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 
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) 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 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]. uc003ulm.1 uc003ulm.2 uc003ulm.3 uc003ulm.4 uc003ulm.5 uc003ulm.6 
ENST00000003302.8 USP28 ENST00000003302.8 Homo sapiens ubiquitin specific peptidase 28 (USP28), transcript variant 1, mRNA. (from RefSeq NM_020886) B0YJC0 B0YJC1 ENST00000003302.1 ENST00000003302.2 ENST00000003302.3 ENST00000003302.4 ENST00000003302.5 ENST00000003302.6 ENST00000003302.7 KIAA1515 NM_020886 Q96RU2 Q9P213 UBP28_HUMAN uc001poh.1 uc001poh.2 uc001poh.3 uc001poh.4 The protein encoded by this gene is a deubiquitinase involved in the DNA damage pathway and DNA damage-induced apoptosis. Overexpression of this gene is seen in several cancers. [provided by RefSeq, Oct 2016]. Deubiquitinase involved in DNA damage response checkpoint and MYC proto-oncogene stability. Involved in DNA damage induced apoptosis by specifically deubiquitinating proteins of the DNA damage pathway such as CLSPN. Also involved in G2 DNA damage checkpoint, by deubiquitinating CLSPN, and preventing its degradation by the anaphase promoting complex/cyclosome (APC/C). In contrast, it does not deubiquitinate PLK1. Specifically deubiquitinates MYC in the nucleoplasm, leading to prevent MYC degradation by the proteasome: acts by specifically interacting with isoform 1 of FBXW7 (FBW7alpha) in the nucleoplasm and counteracting ubiquitination of MYC by the SCF(FBW7) complex. In contrast, it does not interact with isoform 4 of FBXW7 (FBW7gamma) in the nucleolus, allowing MYC degradation and explaining the selective MYC degradation in the nucleolus. Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal). Interacts with isoform 1 of FBXW7; following DNA damage, dissociates from FBXW7 leading to degradation of MYC. Nucleus, nucleoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96RU2-1; Sequence=Displayed; Name=2; IsoId=Q96RU2-2; Sequence=VSP_015580; Down-regulated upon hypoxia. Degradaded upon nickel ion level or hypoxia exposure. Phosphorylated upon DNA damage at Ser-67 and Ser-714, by ATM or ATR. Belongs to the peptidase C19 family. USP28 subfamily. Contains 1 UIM (ubiquitin-interacting motif) repeat. DNA damage checkpoint cysteine-type endopeptidase activity thiol-dependent ubiquitin-specific protease activity protein binding nucleus nucleoplasm DNA repair proteolysis ubiquitin-dependent protein catabolic process cellular response to DNA damage stimulus Ras protein signal transduction peptidase activity cysteine-type peptidase activity cell proliferation response to ionizing radiation protein deubiquitination nuclear body hydrolase activity regulation of protein stability macromolecular complex cellular response to UV thiol-dependent ubiquitinyl hydrolase activity intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator uc001poh.1 uc001poh.2 uc001poh.3 uc001poh.4 
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 
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 
ENST00000006724.7 CEACAM7 ENST00000006724.7 Cell membrane; Lipid-anchor, GPI-anchor (Potential). (from UniProt Q14002) A8K848 CEAM7_HUMAN CGM2 ENST00000006724.1 ENST00000006724.2 ENST00000006724.3 ENST00000006724.4 ENST00000006724.5 ENST00000006724.6 O15148 O15149 Q0VAC1 Q13983 Q14002 Q9UPJ2 X98311 uc002ori.1 uc002ori.2 Cell membrane; Lipid-anchor, GPI-anchor (Potential). Event=Alternative splicing; Named isoforms=2; Name=2a; IsoId=Q14002-1; Sequence=Displayed; Name=2b; IsoId=Q14002-2; Sequence=VSP_002488; Strongly down-regulated in colonic adenocarcinomas. Belongs to the immunoglobulin superfamily. CEA family. Contains 1 Ig-like C2-type (immunoglobulin-like) domain. Contains 1 Ig-like V-type (immunoglobulin-like) domain. extracellular region plasma membrane membrane apical plasma membrane anchored component of membrane uc002ori.1 uc002ori.2 
ENST00000006750.8 CD79B ENST00000006750.8 Homo sapiens CD79b molecule (CD79B), transcript variant 1, mRNA. (from RefSeq NM_000626) B29 CD79B_HUMAN ENST00000006750.1 ENST00000006750.2 ENST00000006750.3 ENST00000006750.4 ENST00000006750.5 ENST00000006750.6 ENST00000006750.7 IGB NM_000626 P40259 Q53FS2 Q9BU06 uc002jdq.1 uc002jdq.2 uc002jdq.3 The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-beta protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. Required in cooperation with CD79A for initiation of the signal transduction cascade activated by the B-cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking to late endosomes and antigen presentation. Enhances phosphorylation of CD79A, possibly by recruiting kinases which phosphorylate CD79A or by recruiting proteins which bind to CD79A and protect it from dephosphorylation. Heterodimer of alpha and beta chains; disulfide-linked. Part of the B-cell antigen receptor complex where the alpha/beta chain heterodimer is non-covalently associated with an antigen- specific membrane-bound surface immunoglobulin of two heavy chains and two light chains. Interacts with LYN (By similarity). Cell membrane; Single-pass type I membrane protein. Note=Following antigen binding, the BCR has been shown to translocate from detergent-soluble regions of the cell membrane to lipid rafts although signal transduction through the complex can also occur outside lipid rafts (By similarity). Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=P40259-1; Sequence=Displayed; Name=Short; IsoId=P40259-2; Sequence=VSP_002477; B-cells. Phosphorylated on tyrosine upon B-cell activation by SRC-type Tyr-kinases such as BLK, LYN and SYK. Defects in CD79B are the cause of agammaglobulinemia type 6 (AGM6) [MIM:612692]. It is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. Contains 1 Ig-like V-type (immunoglobulin-like) domain. Contains 1 ITAM domain. Name=CD79Bbase; Note=CD79B mutation db; URL="http://bioinf.uta.fi/CD79Bbase/"; adaptive immune response immune system process transmembrane signaling receptor activity protein binding nucleoplasm Golgi apparatus cytosol plasma membrane integral component of plasma membrane immune response signal transduction cell surface receptor signaling pathway response to bacterium external side of plasma membrane membrane integral component of membrane B cell receptor complex B cell differentiation identical protein binding protein homodimerization activity B cell receptor signaling pathway protein homooligomerization extracellular exosome uc002jdq.1 uc002jdq.2 uc002jdq.3 
ENST00000006777.11 RHBDD2 ENST00000006777.11 Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 6, mRNA. (from RefSeq NM_001346189) ENST00000006777.1 ENST00000006777.10 ENST00000006777.2 ENST00000006777.3 ENST00000006777.4 ENST00000006777.5 ENST00000006777.6 ENST00000006777.7 ENST00000006777.8 ENST00000006777.9 NM_001346189 Q6NTF9 Q7L534 Q9H5W6 Q9UDT2 RHBD2_HUMAN RHBDL7 uc003udw.1 uc003udw.2 uc003udw.3 The protein encoded by this gene is a member of the rhomboid family of membrane-bound proteases and is overexpressed in some breast cancers. Members of this family are involved in intramembrane proteolysis. In mouse, the orthologous protein associates with the Golgi body. [provided by RefSeq, Sep 2016]. Membrane; Multi-pass membrane protein (Potential). Belongs to the peptidase S54 family. Although strongly related to the peptidase S54 family, it lacks the conserved active sites, suggesting that it has no peptidase activity. Sequence=BAB15503.1; Type=Erroneous initiation; Golgi membrane Hrd1p ubiquitin ligase ERAD-L complex serine-type endopeptidase activity nucleus nucleoplasm Golgi apparatus membrane integral component of membrane integral component of endoplasmic reticulum membrane ER-associated ubiquitin-dependent protein catabolic process endoplasmic reticulum unfolded protein response perinuclear region of cytoplasm misfolded protein binding ubiquitin-specific protease binding uc003udw.1 uc003udw.2 uc003udw.3 
ENST00000007264.7 RPUSD1 ENST00000007264.7 Homo sapiens RNA pseudouridine synthase domain containing 1 (RPUSD1), transcript variant 1, mRNA. (from RefSeq NM_058192) C16orf40 D3DU66 ENST00000007264.1 ENST00000007264.2 ENST00000007264.3 ENST00000007264.4 ENST00000007264.5 ENST00000007264.6 NM_058192 Q9UJJ7 RLUCL RUSD1_HUMAN uc002ckb.1 uc002ckb.2 uc002ckb.3 uc002ckb.4 Belongs to the pseudouridine synthase RluA family. enzyme-directed rRNA pseudouridine synthesis pseudouridine synthesis molecular_function RNA binding cellular_component biological_process RNA modification pseudouridine synthase activity uc002ckb.1 uc002ckb.2 uc002ckb.3 uc002ckb.4 
ENST00000007390.3 TSR3 ENST00000007390.3 Homo sapiens TSR3 ribosome maturation factor (TSR3), mRNA. (from RefSeq NM_001001410) C16orf42 ENST00000007390.1 ENST00000007390.2 NM_001001410 Q6PJT8 Q9UJK0 TSR3_HUMAN UND313L uc002cll.1 uc002cll.2 uc002cll.3 uc002cll.4 uc002cll.5 Probable pre-rRNA processing protein involved in ribosome biogenesis (By similarity). Belongs to the TSR3 family. rRNA modification cytosol rRNA processing transferase activity maturation of SSU-rRNA ribosome biogenesis uc002cll.1 uc002cll.2 uc002cll.3 uc002cll.4 uc002cll.5 
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 
ENST00000007969.12 LRRC23 ENST00000007969.12 Homo sapiens leucine rich repeat containing 23 (LRRC23), transcript variant 1, mRNA. (from RefSeq NM_201650) A8K8C6 D3DUT1 ENST00000007969.1 ENST00000007969.10 ENST00000007969.11 ENST00000007969.2 ENST00000007969.3 ENST00000007969.4 ENST00000007969.5 ENST00000007969.6 ENST00000007969.7 ENST00000007969.8 ENST00000007969.9 LRC23_HUMAN LRPB7 NM_201650 Q53EV4 Q8N6K6 Q92977 Q99620 uc001qrp.1 uc001qrp.2 uc001qrp.3 uc001qrp.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q53EV4-1; Sequence=Displayed; Name=2; IsoId=Q53EV4-2; Sequence=VSP_021889; Note=Ref.1 (AAC51638) sequence is in conflict in position: 276:E->G; Contains 8 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. molecular_function cellular_component cytoplasm cytosol biological_process uc001qrp.1 uc001qrp.2 uc001qrp.3 uc001qrp.4 
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 
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 
ENST00000010404.6 MGST1 ENST00000010404.6 Homo sapiens microsomal glutathione S-transferase 1 (MGST1), transcript variant 1, mRNA. (from RefSeq NM_145792) A8K533 ENST00000010404.1 ENST00000010404.2 ENST00000010404.3 ENST00000010404.4 ENST00000010404.5 GST12 MGST MGST1_HUMAN NM_145792 P10620 uc001rdf.1 uc001rdf.2 uc001rdf.3 uc001rdf.4 The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, two of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. Other family members, demonstrating glutathione S-transferase and peroxidase activities, are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. This gene encodes a protein that catalyzes the conjugation of glutathione to electrophiles and the reduction of lipid hydroperoxides. This protein is localized to the endoplasmic reticulum and outer mitochondrial membrane where it is thought to protect these membranes from oxidative stress. Several transcript variants, some non-protein coding and some protein coding, have been found for this gene. [provided by RefSeq, May 2012]. Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Has a wide substrate specificity. RX + glutathione = HX + R-S-glutathione. Can be activated by reagents that attack Cys-50 sulfhydryl, such as N-ethylmaleimide. Activation also occurs via nitration of Tyr-93 by peroxynitrite (By similarity). Homotrimer; The trimer binds only one molecule of glutathione (By similarity). Q8WX92:COBRA1; NbExp=2; IntAct=EBI-2691601, EBI-347721; Microsome (By similarity). Mitochondrion outer membrane; Peripheral membrane protein (By similarity). Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity). Highly expressed in liver. Peroxynitrite induces nitration at Tyr-93 which activates the enzyme (By similarity). Belongs to the MAPEG family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mgst1/"; glutathione transferase activity glutathione peroxidase activity protein binding nucleus mitochondrion mitochondrial outer membrane peroxisomal membrane endoplasmic reticulum endoplasmic reticulum membrane plasma membrane glutathione metabolic process xenobiotic metabolic process response to organonitrogen compound membrane integral component of membrane transferase activity response to lipopolysaccharide Leydig cell differentiation azurophil granule membrane response to drug identical protein binding protein homodimerization activity intracellular membrane-bounded organelle glutathione binding neutrophil degranulation apical part of cell oxidation-reduction process protein homotrimerization cellular response to lipid hydroperoxide cellular oxidant detoxification glutathione derivative biosynthetic process prostaglandin biosynthetic process prostaglandin-E synthase activity uc001rdf.1 uc001rdf.2 uc001rdf.3 uc001rdf.4 
ENST00000011292.8 CPA1 ENST00000011292.8 Homo sapiens carboxypeptidase A1 (CPA1), mRNA. (from RefSeq NM_001868) A4D1M1 CBPA1_HUMAN CPA ENST00000011292.1 ENST00000011292.2 ENST00000011292.3 ENST00000011292.4 ENST00000011292.5 ENST00000011292.6 ENST00000011292.7 NM_001868 P15085 Q53XU0 Q9BS67 Q9UCF2 uc003vpx.1 uc003vpx.2 uc003vpx.3 uc003vpx.4 uc003vpx.5 This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. This enzyme is produced in the pancreas and preferentially cleaves C-terminal branched-chain and aromatic amino acids from dietary proteins. This gene and several family members are present in a gene cluster on chromosome 7. Mutations in this gene may be linked to chronic pancreatitis, while elevated protein levels may be associated with pancreatic cancer. [provided by RefSeq, Jan 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK291493.1, BT007313.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968832 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000011292.8/ ENSP00000011292.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Carboxypeptidase that catalyzes the release of a C- terminal amino acid, but has little or no action with -Asp, -Glu, -Arg, -Lys or -Pro. Release of a C-terminal amino acid, but little or no action with -Asp, -Glu, -Arg, -Lys or -Pro. Binds 1 zinc ion per subunit. Monomer. May form a complex with proelastase 2. Secreted. Belongs to the peptidase M14 family. carboxypeptidase activity metallocarboxypeptidase activity protein binding extracellular region extracellular space proteolysis peptidase activity metallopeptidase activity exopeptidase activity zinc ion binding hydrolase activity metal ion binding uc003vpx.1 uc003vpx.2 uc003vpx.3 uc003vpx.4 uc003vpx.5 
ENST00000011619.6 RANBP9 ENST00000011619.6 Homo sapiens RAN binding protein 9 (RANBP9), mRNA. (from RefSeq NM_005493) A0PJA2 ENST00000011619.1 ENST00000011619.2 ENST00000011619.3 ENST00000011619.4 ENST00000011619.5 NM_005493 O94764 Q6P3T7 Q7LBR2 Q7Z7F9 Q96S59 RANB9_HUMAN RANBPM uc003nbb.1 uc003nbb.2 uc003nbb.3 uc003nbb.4 This gene encodes a protein that binds RAN, a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The protein encoded by this gene has also been shown to interact with several other proteins, including met proto-oncogene, homeodomain interacting protein kinase 2, androgen receptor, and cyclin-dependent kinase 11. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF306510.1, BC052781.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000011619.6/ ENSP00000011619.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## May act as an adapter protein to couple membrane receptors to intracellular signaling pathways. May be involved in signaling of ITGB2/LFA-1 and other integrins. Enhances HGF-MET signaling by recruiting Sos and activating the Ras pathway. Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but not affect estrogen-induced transactivation. Stabilizes TP73 isoform Alpha, probably by inhibiting its ubiquitination, and increases its proapoptotic activity. Inhibits the kinase activity of DYRK1A and DYRK1B. Inhibits FMR1 binding to RNA (By similarity). Interacts with NGFR and DDX4 (By similarity). Interacts with GTP-bound Ran, AR, CDC2L1/p110C, CALB1, S100A7, USP11, MKLN1, SOS1 or SOS2, GID8, and FMR1. Interacts with the Dyrk kinases HIPK2, DYRK1A, and DYRK1B. Interacts with TP73 isoform Alpha but not with TP53. Interacts with the HGF receptor MET and the integrins ITGB1 and ITGB2, but not with ITGAL. Part of a complex consisting of RANBP9, MKLN1 and GID8. Part of a complex consisting of RANBP9, RAN, DYRK1B and COPS5. Directly interacts with RANBP10. Q9NRI5:DISC1; NbExp=6; IntAct=EBI-636085, EBI-529989; Q9Y463:DYRK1B; NbExp=4; IntAct=EBI-636085, EBI-634187; P36873-2:PPP1CC; NbExp=3; IntAct=EBI-636085, EBI-3964623; P31151:S100A7; NbExp=3; IntAct=EBI-636085, EBI-357520; Cytoplasm, cytosol. Nucleus. Note==Predominantly cytoplasmic. A phosphorylated form is associated with the plasma membrane. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96S59-1; Sequence=Displayed; Name=2; IsoId=Q96S59-2; Sequence=VSP_013175; Ubiquitously expressed, with highest levels in testes, placenta, heart, and muscle, and lowest levels in lung. Within the brain, expressed predominantly by neurons in the gray matter of cortex, the granular layer of cerebellum and the Purkinje cells. The SPRY domain mediates the interaction with MET, AR, and CDC2L1. Phosphorylated upon DNA damage, probably by ATM or ATR. Phosphorylated in response to stress. Can be phosphorylated by the cleaved p110 form of CDC2L1 (p110C). Ubiquitinated. Polyubiquitination targets the protein for rapid degradation via the ubiquitin system. Can be deubiquitinated by USP11. Belongs to the RANBP9/10 family. Contains 1 B30.2/SPRY domain. Contains 1 CTLH domain. Contains 1 LisH domain. According to some authors (PubMed:9817760) RANBP9 would be located in centrosomes and involved in microtubule assembly, but other authors infirmed these results in (PubMed:11470507). Sequence=AAH19886.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH52781.1; Type=Frameshift; Positions=13, 30, 34; Sequence=AAK15469.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA23216.1; Type=Erroneous initiation; Note=Translation N-terminally extended; ubiquitin ligase complex MAPK cascade protein binding nucleus cytoplasm cytosol microtubule associated complex plasma membrane microtubule nucleation axon guidance Ran GTPase binding membrane enzyme binding macromolecular complex assembly negative regulation of ERK1 and ERK2 cascade uc003nbb.1 uc003nbb.2 uc003nbb.3 uc003nbb.4 
ENST00000011653.9 CD4 ENST00000011653.9 Homo sapiens CD4 molecule (CD4), transcript variant 9, mRNA. (from RefSeq NM_001382714) B2R737 CD4_HUMAN D3DUS5 ENST00000011653.1 ENST00000011653.2 ENST00000011653.3 ENST00000011653.4 ENST00000011653.5 ENST00000011653.6 ENST00000011653.7 ENST00000011653.8 NM_001382714 P01730 Q4ZGK2 Q5U066 Q9UDE5 uc001qqv.1 uc001qqv.2 uc001qqv.3 uc001qqv.4 This gene encodes the CD4 membrane glycoprotein of T lymphocytes. The CD4 antigen acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presenting cell in the context of class II MHC molecules. The CD4 antigen is also a primary receptor for entry of the human immunodeficiency virus through interactions with the HIV Env gp120 subunit. This gene is expressed not only in T lymphocytes, but also in B cells, macrophages, granulocytes, as well as in various regions of the brain. The protein functions to initiate or augment the early phase of T-cell activation, and may function as an important mediator of indirect neuronal damage in infectious and immune-mediated diseases of the central nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, May 2020]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. Accessory protein for MHC class-II antigen/T-cell receptor interaction. May regulate T-cell activation. Induces the aggregation of lipid rafts. Associates with LCK. Binds to HIV-1 gp120 and to P4HB/PDI and upon HIV-1 binding to the cell membrane, is part of P4HB/PDI- CD4-CXCR4-gp120 complex. Interacts with HIV-1 Envelope polyprotein gp160 and protein Vpu. Interacts with Human Herpes virus 7 capsid proteins. Interacts with PTK2/FAK1; this interaction requires the presence of HIV-1 gp120. Cell membrane; Single-pass type I membrane protein. Note=Localizes to lipid rafts. Removed from plasma membrane by HIV-1 Nef protein that increases clathrin-dependent endocytosis of this antigen to target it to lysosomal degradation. Cell surface expression is also down-modulated by HIV-1 Envelope polyprotein gp160 that interacts with, and sequesters CD4 in the endoplasmic reticulum. Palmitoylation and association with LCK contribute to the enrichment of CD4 in lipid rafts. The OKT monoclonal antibodies are widely used for the analysis of human peripheral blood T-lymphocytes. OKT4 reacts with T-helper/inducer lymphocytes. The OKT4 epitope of the CD4 cell-surface protein is polymorphic in white, black, and Japanese populations. The variable phenotypic expression is due a CD4 polymorphism. OKT4 positive individuals carry Arg-265 and OKT4 negative individuals carry Trp-265 [MIM:613949]. Primary receptor for HIV-1. Contains 3 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 Ig-like V-type (immunoglobulin-like) domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cd4/"; Name=Wikipedia; Note=CD4 entry; URL="http://en.wikipedia.org/wiki/CD4"; virus receptor activity cytokine production positive regulation of protein phosphorylation adaptive immune response immune system process transmembrane signaling receptor activity receptor binding extracellular matrix structural constituent protein binding early endosome endoplasmic reticulum lumen endoplasmic reticulum membrane plasma membrane integral component of plasma membrane induction by virus of host cell-cell fusion immune response cell adhesion signal transduction cell surface receptor signaling pathway enzyme linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway zinc ion binding external side of plasma membrane cell surface positive regulation of calcium ion transport into cytosol coreceptor activity membrane integral component of membrane viral process fusion of virus membrane with host plasma membrane cytokine-mediated signaling pathway immunoglobulin binding enzyme binding protein kinase binding T cell differentiation macrophage differentiation entry into host cell clathrin-coated vesicle membrane response to estradiol maintenance of protein location in cell response to vitamin D positive regulation of kinase activity helper T cell enhancement of adaptive immune response interleukin-15-mediated signaling pathway signaling receptor activity interleukin-16 binding interleukin-16 receptor activity T cell receptor complex positive regulation of T cell proliferation T cell activation MHC class II protein binding identical protein binding protein homodimerization activity positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of MAPK cascade T cell selection positive regulation of interleukin-2 biosynthetic process membrane raft positive regulation of monocyte differentiation positive regulation of protein kinase activity positive regulation of transcription, DNA-templated positive regulation of viral entry into host cell regulation of defense response to virus by virus positive regulation of peptidyl-tyrosine phosphorylation defense response to Gram-negative bacterium positive regulation of calcium-mediated signaling T cell receptor signaling pathway regulation of T cell activation positive regulation of T cell activation regulation of calcium ion transport membrane organization positive regulation of ERK1 and ERK2 cascade cellular response to granulocyte macrophage colony-stimulating factor stimulus protein tyrosine kinase binding uc001qqv.1 uc001qqv.2 uc001qqv.3 uc001qqv.4 
ENST00000011684.11 PLEKHG6 ENST00000011684.11 Homo sapiens pleckstrin homology and RhoGEF domain containing G6 (PLEKHG6), transcript variant 1, mRNA. (from RefSeq NM_018173) ENST00000011684.1 ENST00000011684.10 ENST00000011684.2 ENST00000011684.3 ENST00000011684.4 ENST00000011684.5 ENST00000011684.6 ENST00000011684.7 ENST00000011684.8 ENST00000011684.9 NM_018173 PKHG6_HUMAN Q3KR16 Q3SWR1 Q8N1P1 Q8WYY1 Q9H8F4 Q9NVK9 uc001qnr.1 uc001qnr.2 uc001qnr.3 uc001qnr.4 Guanine nucleotide exchange factor activating the small GTPase RHOA, which, in turn, induces myosin filament formation. Also activates RHOG. Does not activate RAC1, or to a much lower extent than RHOA and RHOG. Part of a functional unit, involving PLEKHG6, MYH10 and RHOA, at the cleavage furrow to advance furrow ingression during cytokinesis. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with EZR, required for normal macropinocytosis. Interacts with MYH10. Interacts with ELMO1 and EZR (in an open conformation). Interacts with CSPP1. Cytoplasm. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Cleavage furrow. Note=During mitosis, localizes to the spindle pole, central spindle and cleavage furrow. In epithelial cells, recruited to the apical membrane by EZR. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q3KR16-1; Sequence=Displayed; Name=2; IsoId=Q3KR16-2; Sequence=VSP_028857; Note=No experimental confirmation available; Name=3; IsoId=Q3KR16-3; Sequence=VSP_028856, VSP_028858; Note=No experimental confirmation available; Highest expression in the placenta. Low levels in small intestine, lung, liver, kidney, thymus and heart. Contains 1 DH (DBL-homology) domain. Contains 1 PH domain. spindle pole Rho guanyl-nucleotide exchange factor activity GTPase activator activity protein binding cytoplasm centrosome spindle cytoskeleton microvillus cell junction cleavage furrow regulation of Rho protein signal transduction cell projection positive regulation of GTPase activity uc001qnr.1 uc001qnr.2 uc001qnr.3 uc001qnr.4 
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 
ENST00000013125.9 MAP4K5 ENST00000013125.9 Homo sapiens mitogen-activated protein kinase kinase kinase kinase 5 (MAP4K5), transcript variant 2, mRNA. (from RefSeq NM_198794) ENST00000013125.1 ENST00000013125.2 ENST00000013125.3 ENST00000013125.4 ENST00000013125.5 ENST00000013125.6 ENST00000013125.7 ENST00000013125.8 M4K5_HUMAN NM_198794 Q8IYF6 Q9Y4K4 uc001wyb.1 uc001wyb.2 uc001wyb.3 uc001wyb.4 uc001wyb.5 This gene encodes a member of the serine/threonine protein kinase family, that is highly similar to yeast SPS1/STE20 kinase. Yeast SPS1/STE20 functions near the beginning of the MAP kinase signal cascades that is essential for yeast pheromone response. This kinase was shown to activate Jun kinase in mammalian cells, which suggested a role in stress response. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]. May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway. ATP + a protein = ADP + a phosphoprotein. Magnesium. Interacts with both SH3 domains of the adapter proteins CRK and CRKL. P46108:CRK; NbExp=5; IntAct=EBI-1279, EBI-886; P62993:GRB2; NbExp=4; IntAct=EBI-1279, EBI-401755; P16333:NCK1; NbExp=2; IntAct=EBI-1279, EBI-389883; Cytoplasm. Ubiquitously expressed in all tissues examined, with high levels in the ovary, testis and prostate. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. Contains 1 CNH domain. Contains 1 protein kinase domain. nucleotide binding activation of MAPKKK activity protein kinase activity protein serine/threonine kinase activity protein binding ATP binding cytoplasm protein phosphorylation activation of JUN kinase activity MAP kinase kinase kinase kinase activity kinase activity phosphorylation transferase activity signal transduction by protein phosphorylation activation of protein kinase activity intracellular signal transduction uc001wyb.1 uc001wyb.2 uc001wyb.3 uc001wyb.4 uc001wyb.5 
ENST00000013222.5 INMT ENST00000013222.5 Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA. (from RefSeq NM_006774) ENST00000013222.1 ENST00000013222.2 ENST00000013222.3 ENST00000013222.4 INMT_HUMAN NM_006774 O95050 Q3KP49 Q9P1Y2 Q9UBY4 Q9UHQ0 uc003tbs.1 N-methylation of endogenous and xenobiotic compounds is a major method by which they are degraded. This gene encodes an enzyme that N-methylates indoles such as tryptamine. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream MINDY4 (aka FAM188B) gene. In rodents and other mammals such as cetartiodactyla this gene is in the opposite orientation compared to its orientation in human and other primates and this gene appears to have been lost in carnivora and chiroptera. [provided by RefSeq, Jul 2019]. Functions as thioether S-methyltransferase and is active with a variety of thioethers and the corresponding selenium and tellurium compounds, including 3-methylthiopropionaldehyde, dimethyl selenide, dimethyl telluride, 2-methylthioethylamine, 2- methylthioethanol, methyl-n-propyl sulfide and diethyl sulfide. Plays an important role in the detoxification of selenium compounds (By similarity). Catalyzes the N-methylation of tryptamine and structurally related compounds. S-adenosyl-L-methionine + an amine = S- adenosyl-L-homocysteine + a methylated amine. S-adenosyl-L-methionine + dimethyl sulfide = S-adenosyl-L-homocysteine + trimethylsulfonium. Kinetic parameters: KM=2.9 mM for tryptamine; Monomer (By similarity). Cytoplasm (By similarity). Widely expressed. The highest levels were in thyroid, adrenal gland, adult and fetal lung. Intermediate levels in heart, placenta, skeletal muscle, testis, small intestine, pancreas, stomach, spinal cord, lymph node and trachea. Very low levels in adult and fetal kidney and liver, in adult spleen, thymus, ovary, colon and bone marrow. Not expressed in peripheral blood leukocytes and brain. Belongs to the NNMT/PNMT/TEMT family. thioether S-methyltransferase activity protein binding cytoplasm cytosol methyltransferase activity amine metabolic process response to toxic substance transferase activity amine N-methyltransferase activity methylation uc003tbs.1 
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 
ENST00000019317.8 RALBP1 ENST00000019317.8 Can activate specifically hydrolysis of GTP bound to RAC1 and CDC42, but not RALA. Mediates ATP-dependent transport of S-(2,4-dinitrophenyl)-glutathione (DNP-SG) and doxorubicin (DOX) and is the major ATP-dependent transporter of glutathione conjugates of electrophiles (GS-E) and DOX in erythrocytes. Can catalyze transport of glutathione conjugates and xenobiotics, and may contribute to the multidrug resistance phenomenon. Serves as a scaffold protein that brings together proteins forming an endocytotic complex during interphase and also with CDK1 to switch off endocytosis, One of its substrates would be EPN1/Epsin. (from UniProt Q15311) BC013126 D3DUI0 ENST00000019317.1 ENST00000019317.2 ENST00000019317.3 ENST00000019317.4 ENST00000019317.5 ENST00000019317.6 ENST00000019317.7 Q15311 RBP1_HUMAN RLIP1 RLIP76 uc002kob.1 uc002kob.2 uc002kob.3 uc002kob.4 Can activate specifically hydrolysis of GTP bound to RAC1 and CDC42, but not RALA. Mediates ATP-dependent transport of S-(2,4-dinitrophenyl)-glutathione (DNP-SG) and doxorubicin (DOX) and is the major ATP-dependent transporter of glutathione conjugates of electrophiles (GS-E) and DOX in erythrocytes. Can catalyze transport of glutathione conjugates and xenobiotics, and may contribute to the multidrug resistance phenomenon. Serves as a scaffold protein that brings together proteins forming an endocytotic complex during interphase and also with CDK1 to switch off endocytosis, One of its substrates would be EPN1/Epsin. Interacts with the GTP-bound form of RALA, RALB, CDC42 and RAC1. Interacts with REPS1 and REPS2 and this does not affect the Ral-binding activity. Interacts with DAB2IP. Interacts with catalytically active CCNB1 and CDK1 during mitosis. Interacts with EPN1, NUMB and TFAP2A during interphase and mitosis. Membrane; Peripheral membrane protein. Expressed ubiquitously but at low levels. Shows a strong expression in the erythrocytes. Contains 1 Rho-GAP domain. GTPase activator activity protein binding cytosol endocytosis chemotaxis signal transduction small GTPase mediated signal transduction membrane Ral GTPase binding transmembrane transporter activity ATPase activity, coupled to transmembrane movement of substances xenobiotic transporter activity regulation of GTPase activity positive regulation of GTPase activity Rac GTPase binding regulation of small GTPase mediated signal transduction transmembrane transport doxorubicin transport drug transmembrane export uc002kob.1 uc002kob.2 uc002kob.3 uc002kob.4 
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 
ENST00000024061.7 SLC45A4 ENST00000024061.7 Homo sapiens solute carrier family 45 member 4 (SLC45A4), transcript variant 2, mRNA. (from RefSeq NM_001080431) ENST00000024061.1 ENST00000024061.2 ENST00000024061.3 ENST00000024061.4 ENST00000024061.5 ENST00000024061.6 KIAA1126 NM_001080431 Q5BKX6 Q6ZRI2 Q9ULU3 S45A4_HUMAN uc003ywd.1 uc003ywd.2 uc003ywd.3 Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q5BKX6-1; Sequence=Displayed; Name=2; IsoId=Q5BKX6-2; Sequence=VSP_033540, VSP_033541; Name=3; IsoId=Q5BKX6-3; Sequence=VSP_033540, VSP_033541, VSP_033542; Note=No experimental confirmation available. Ref.1 (BAC87328) sequence is in conflict in position: 787:E->K; Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family. Sequence=AAH90891.1; Type=Erroneous initiation; sucrose:proton symporter activity sucrose transport membrane integral component of membrane uc003ywd.1 uc003ywd.2 uc003ywd.3 
ENST00000025008.10 RB1CC1 ENST00000025008.10 Homo sapiens RB1 inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA. (from RefSeq NM_014781) ENST00000025008.1 ENST00000025008.2 ENST00000025008.3 ENST00000025008.4 ENST00000025008.5 ENST00000025008.6 ENST00000025008.7 ENST00000025008.8 ENST00000025008.9 KIAA0203 NM_014781 Q86YR4 Q8TDY2 Q8WVU9 Q92601 RBCC1_HUMAN RBICC uc003xre.1 uc003xre.2 uc003xre.3 uc003xre.4 uc003xre.5 uc003xre.6 The protein encoded by this gene interacts with signaling pathways to coordinately regulate cell growth, cell proliferation, apoptosis, autophagy, and cell migration. This tumor suppressor also enhances retinoblastoma 1 gene expression in cancer cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]. Implicated in the regulation of RB1 expression. Functions as a DNA-binding transcription factor. Is a potent regulator of the RB1 pathway and a mediator that plays a crucial role in muscular differentiation. Expression is, thus, a prerequisite for myogenic differentiation. Involved in autophagy. Required for autophagosome formation (By similarity). Inhibits PTK2/FAK1 and PTK2B/PYK2 activity and activation of downstream signaling pathways. Part of a complex consisting of ATG13/KIAA0652, ULK1 and RB1CC1. This complex associates with ATG101. Interacts with PTK2/FAK1 and PTK2B/PYK2. O75143:ATG13; NbExp=5; IntAct=EBI-1047793, EBI-2798775; A7MCY6:TBKBP1; NbExp=2; IntAct=EBI-1047793, EBI-359969; O75385:ULK1; NbExp=4; IntAct=EBI-1047793, EBI-908831; Nucleus. Cytoplasm, cytosol. Preautophagosomal structure (By similarity). Note=Under starvation conditions, is localized to puncate structures primarily representing the isolation membrane that sequesters a portion of the cytoplasm resulting in the formation of an autophagosome (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8TDY2-1; Sequence=Displayed; Name=2; IsoId=Q8TDY2-2; Sequence=VSP_040097; Note=No experimental confirmation available; Expression levels correlated closely with those of RB1 in cancer cell lines as well as in various normal human tissues. Abundantly expressed in human musculoskeletal and cultured osteosarcoma cells. Expression was difficult to detect in immature proliferating chondroblasts or myogenic cells in embryos, but became obvious and prominent concomitantly with the maturation of osteocytes, chondrocytes, and skeletal muscle cells. Expression in these musculoskeletal cells increased with RB1 expression, which is linked to the terminal differentiation of many tissues and cells. The introduction of the wild-type protein decreased the formation of macroscopic colonies in a cell growth assay. Probably involved in the tumorigenesis of breast cancer. RB1CC1 is frequently mutated in breast cancer and shows characteristics of a classical tumor suppressor gene. Sequence=BAA13194.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; autophagosome assembly pre-autophagosomal structure mitophagy liver development positive regulation of protein phosphorylation protein binding nucleus cytoplasm lysosome endoplasmic reticulum membrane cytosol autophagy cell cycle heart development macroautophagy regulation of macroautophagy extrinsic component of membrane protein kinase binding pexophagy nuclear membrane pre-autophagosomal structure membrane piecemeal microautophagy of nucleus negative regulation of apoptotic process positive regulation of cell size positive regulation of JNK cascade reticulophagy glycophagy ATG1/ULK1 kinase complex negative regulation of extrinsic apoptotic signaling pathway uc003xre.1 uc003xre.2 uc003xre.3 uc003xre.4 uc003xre.5 uc003xre.6 
ENST00000025301.4 AKAP11 ENST00000025301.4 Homo sapiens A-kinase anchoring protein 11 (AKAP11), mRNA. (from RefSeq NM_016248) AKA11_HUMAN AKAP220 ENST00000025301.1 ENST00000025301.2 ENST00000025301.3 KIAA0629 NM_016248 O75124 Q9NUK7 Q9UKA4 uc001uys.1 uc001uys.2 uc001uys.3 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF176555.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000025301.4/ ENSP00000025301.2 RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## Binds to type II regulatory subunits of protein kinase A and anchors/targets them. Cytoplasm. Cytoplasm, cytoskeleton, centrosome. Note=Cytoplasmic in premeiotic pachytene spermatocytes and in the centrosome of developing postmeiotic germ cells, while a midpiece/centrosome localization was found in elongating spermatocytes and mature sperm. Expressed in heart, brain, lung, liver, kidney, testis and ovary. Weakly expressed in skeletal muscle, pancreas and spleen. RII-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer. Belongs to the AKAP110 family. Sequence=BAA92117.1; Type=Erroneous initiation; protein binding nucleolus cytoplasm peroxisome microtubule organizing center cytosol cytoskeleton plasma membrane protein localization protein phosphatase 1 binding intracellular signal transduction protein kinase A binding uc001uys.1 uc001uys.2 uc001uys.3 
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 
ENST00000033079.7 FAM13B ENST00000033079.7 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NYF5-1; Sequence=Displayed; Name=2; IsoId=Q9NYF5-2; Sequence=VSP_042048; Note=No experimental confirmation available; (from UniProt Q9NYF5) C5orf5 D3DQB5 ENST00000033079.1 ENST00000033079.2 ENST00000033079.3 ENST00000033079.4 ENST00000033079.5 ENST00000033079.6 FA13B_HUMAN FAM13B1 NR_169826 Q3ZCR0 Q6PGQ2 Q9NYF5 Q9P0I7 uc003lbz.1 uc003lbz.2 uc003lbz.3 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NYF5-1; Sequence=Displayed; Name=2; IsoId=Q9NYF5-2; Sequence=VSP_042048; Note=No experimental confirmation available; Belongs to the FAM13 family. Contains 1 Rho-GAP domain. Sequence=AAF67482.1; Type=Frameshift; Positions=734; Sequence=AAF67482.1; Type=Miscellaneous discrepancy; GTPase activator activity cytosol signal transduction positive regulation of GTPase activity regulation of small GTPase mediated signal transduction uc003lbz.1 uc003lbz.2 uc003lbz.3 
ENST00000035307.7 CHPF2 ENST00000035307.7 Transfers glucuronic acid (GlcUA) from UDP-GlcUA to N- acetylgalactosamine residues on the non-reducing end of the elongating chondroitin polymer. Has no N- acetylgalactosaminyltransferase activity. (from UniProt Q9P2E5) B2DBD8 CHPF2_HUMAN CHSY3 CSGLCAT ENST00000035307.1 ENST00000035307.2 ENST00000035307.3 ENST00000035307.4 ENST00000035307.5 ENST00000035307.6 KIAA1402 NR_171547 Q6P2I4 Q6UXD2 Q9P2E5 UNQ299/PRO339 uc003wjr.1 uc003wjr.2 uc003wjr.3 uc003wjr.4 Transfers glucuronic acid (GlcUA) from UDP-GlcUA to N- acetylgalactosamine residues on the non-reducing end of the elongating chondroitin polymer. Has no N- acetylgalactosaminyltransferase activity. UDP-alpha-D-glucuronate + N-acetyl-beta-D- galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan = UDP + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-(1->4)- beta-D-glucuronosyl-proteoglycan. Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9P2E5-1; Sequence=Displayed; Name=2; IsoId=Q9P2E5-2; Sequence=VSP_012724, VSP_012725; Note=No experimental confirmation available; Ubiquitous. Highly expressed in placenta, small intestine and pancreas. Belongs to the chondroitin N- acetylgalactosaminyltransferase family. Sequence=BAA92640.1; Type=Erroneous initiation; Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; Golgi membrane Golgi apparatus acetylgalactosaminyltransferase activity membrane integral component of membrane transferase activity chondroitin sulfate biosynthetic process Golgi cisterna membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity uc003wjr.1 uc003wjr.2 uc003wjr.3 uc003wjr.4 
ENST00000037243.7 GABARAPL2 ENST00000037243.7 Homo sapiens GABA type A receptor associated protein like 2 (GABARAPL2), mRNA. (from RefSeq NM_007285) ENST00000037243.1 ENST00000037243.2 ENST00000037243.3 ENST00000037243.4 ENST00000037243.5 ENST00000037243.6 FLC3A GBRL2_HUMAN GEF2 NM_007285 O08765 P60520 Q6FG91 Q9DCP8 Q9UQF7 uc002fen.1 uc002fen.2 uc002fen.3 uc002fen.4 Involved in intra-Golgi traffic. Modulates intra-Golgi transport through coupling between NSF activity and SNAREs activation. It first stimulates the ATPase activity of NSF which in turn stimulates the association with GOSR1 (By similarity). Monomer. Interacts with GABRG2, NSF, GOSR1 and beta- tubulin (By similarity). Interacts with ULK1. Interacts with TP53INP1 and TP53INP2. Interacts with TBC1D25. O75143:ATG13; NbExp=2; IntAct=EBI-720116, EBI-2798775; Q2TAZ0:ATG2A; NbExp=2; IntAct=EBI-720116, EBI-2514077; Q9NT62:ATG3; NbExp=4; IntAct=EBI-720116, EBI-988094; Q9Y4P1:ATG4B; NbExp=5; IntAct=EBI-720116, EBI-712014; O95352:ATG7; NbExp=4; IntAct=EBI-720116, EBI-987834; Q8WXU2:DYX1C1; NbExp=2; IntAct=EBI-720116, EBI-2946907; P00533:EGFR; NbExp=2; IntAct=EBI-720116, EBI-297353; Q9BQS8:FYCO1; NbExp=2; IntAct=EBI-720116, EBI-2869338; O75323:GBAS; NbExp=4; IntAct=EBI-720116, EBI-307133; P40939:HADHA; NbExp=3; IntAct=EBI-720116, EBI-356720; O00410:IPO5; NbExp=4; IntAct=EBI-720116, EBI-356424; Q86V97:KBTBD6; NbExp=2; IntAct=EBI-720116, EBI-2514778; Q8WVZ9:KBTBD7; NbExp=2; IntAct=EBI-720116, EBI-473695; Q14596:NBR1; NbExp=10; IntAct=EBI-720116, EBI-742698; P46934:NEDD4; NbExp=3; IntAct=EBI-720116, EBI-726944; Q8TD19:NEK9; NbExp=4; IntAct=EBI-720116, EBI-1044009; Q9NS23:RASSF1; NbExp=2; IntAct=EBI-720116, EBI-367363; Q8WWW0:RASSF5; NbExp=2; IntAct=EBI-720116, EBI-367390; Q13501:SQSTM1; NbExp=8; IntAct=EBI-720116, EBI-307104; O95210:STBD1; NbExp=3; IntAct=EBI-720116, EBI-2947137; Q13188:STK3; NbExp=2; IntAct=EBI-720116, EBI-992580; Q13043:STK4; NbExp=2; IntAct=EBI-720116, EBI-367376; Q8TC07:TBC1D15; NbExp=2; IntAct=EBI-720116, EBI-1048247; Q9UPU7:TBC1D2B; NbExp=2; IntAct=EBI-720116, EBI-2947180; O15040:TECPR2; NbExp=2; IntAct=EBI-720116, EBI-2946991; Q9GZZ9:UBA5; NbExp=6; IntAct=EBI-720116, EBI-747805; O75385:ULK1; NbExp=3; IntAct=EBI-720116, EBI-908831; Golgi apparatus (By similarity). Cytoplasmic vesicle, autophagosome. Ubiquitous. Expressed at high levels in the brain, heart, prostate, ovary, spleen and skeletal muscle. Expressed at very low levels in lung, thymus and small intestine. Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the MAP1 LC3 family. autophagosome assembly Golgi membrane SNARE binding autophagosome membrane mitophagy protein binding intracellular cytoplasm autophagosome Golgi apparatus cytosol intra-Golgi vesicle-mediated transport autophagy cellular response to nitrogen starvation microtubule binding protein transport macroautophagy cytoplasmic vesicle ubiquitin protein ligase binding positive regulation of ATPase activity beta-tubulin binding GABA receptor binding ATPase binding autophagosome maturation negative regulation of proteasomal protein catabolic process uc002fen.1 uc002fen.2 uc002fen.3 uc002fen.4 
ENST00000037502.11 MYOC ENST00000037502.11 Homo sapiens myocilin (MYOC), mRNA. (from RefSeq NM_000261) B2RD84 ENST00000037502.1 ENST00000037502.10 ENST00000037502.2 ENST00000037502.3 ENST00000037502.4 ENST00000037502.5 ENST00000037502.6 ENST00000037502.7 ENST00000037502.8 ENST00000037502.9 GLC1A MYOC_HUMAN NM_000261 O00620 Q7Z6Q9 Q99972 TIGR uc001ghu.1 uc001ghu.2 uc001ghu.3 uc001ghu.4 uc001ghu.5 MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response protein (TIGR). The trabecular meshwork is a specialized eye tissue essential in regulating intraocular pressure, and mutations in MYOC have been identified as the cause of hereditary juvenile-onset open-angle glaucoma. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.323867.1, U85257.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2153980, SAMEA2154125 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000037502.11/ ENSP00000037502.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May participate in the obstruction of fluid outflow in the trabecular meshwork. Homodimer. Interacts with OLFM3. Rough endoplasmic reticulum. Secreted. Cell projection, cilium. Note=Located preferentially in the ciliary rootlet and basal body of the connecting cilium of photoreceptor cells, and in the rough endoplasmic reticulum. Also secreted. Expressed in large amounts in various types of muscle, ciliary body, papillary sphincter, skeletal muscle, heart and other tissues. Expressed predominantly in the retina. In normal eyes, found in the inner uveal meshwork region and the anterior portion of the meshwork. In contrast, in many glaucomatous eyes, it is found in more regions of the meshwork and appeared more intensively than in normal eyes, regardless of the type or clinical severity of glaucoma. Different isoforms may arise by post-translational modifications. Glycosylated. Palmitoylated (By similarity). Defects in MYOC are the cause of primary open angle glaucoma type 1A (GLC1A) [MIM:137750]. Primary open angle glaucoma (POAG) is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. The disease is asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. Defects in MYOC are a cause of primary congenital glaucoma type 3A (GLC3A) [MIM:231300]. An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early choldhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. Note=MYOC variations may contribute to GLC3A via digenic inheritance with CYP1B1 and/or another locus associated with the disease. Contains 1 olfactomedin-like domain. Sequence=BAA24532.1; Type=Erroneous initiation; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYOC"; osteoblast differentiation regulation of cell-matrix adhesion negative regulation of cell-matrix adhesion fibronectin binding frizzled binding protein binding extracellular region extracellular space mitochondrion mitochondrial outer membrane mitochondrial inner membrane mitochondrial intermembrane space endoplasmic reticulum rough endoplasmic reticulum Golgi apparatus cilium positive regulation of phosphatidylinositol 3-kinase signaling skeletal muscle hypertrophy membrane myelination in peripheral nervous system positive regulation of cell migration receptor tyrosine kinase binding neuron projection development cytoplasmic vesicle myosin light chain binding node of Ranvier negative regulation of Rho protein signal transduction non-canonical Wnt signaling pathway via JNK cascade ERBB2-ERBB3 signaling pathway cell projection regulation of MAPK cascade clustering of voltage-gated sodium channels metal ion binding regulation of stress fiber assembly positive regulation of stress fiber assembly negative regulation of stress fiber assembly positive regulation of focal adhesion assembly positive regulation of protein kinase B signaling positive regulation of mitochondrial depolarization bone development extracellular exosome positive regulation of substrate adhesion-dependent cell spreading uc001ghu.1 uc001ghu.2 uc001ghu.3 uc001ghu.4 uc001ghu.5 
ENST00000037869.7 FAM136A ENST00000037869.7 Homo sapiens family with sequence similarity 136 member A (FAM136A), transcript variant 1, mRNA. (from RefSeq NM_032822) ENST00000037869.1 ENST00000037869.2 ENST00000037869.3 ENST00000037869.4 ENST00000037869.5 ENST00000037869.6 F136A_HUMAN NM_032822 Q96C01 Q96SS3 uc002sgq.1 uc002sgq.2 uc002sgq.3 uc002sgq.4 uc002sgq.5 This gene encodes a mitochondrially localized protein that is highly conserved across species. The gene is expressed in a variety of tissues including human lymphoblast cells and rat neurosensorial epithelium of the cristaampullaris. A mutation in this gene has been associated with familial Meniere's disease, a chronic disorder of the inner ear. Several pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]. ##Evidence-Data-START## Transcript exon combination :: SRR7346977.300755.1, SRR5189658.219773.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: PMID: 25305078; reported by MitoCarta ##RefSeq-Attributes-END## O15116:LSM1; NbExp=1; IntAct=EBI-373319, EBI-347619; Mitochondrion (By similarity). Belongs to the FAM136 family. cytoplasm uc002sgq.1 uc002sgq.2 uc002sgq.3 uc002sgq.4 uc002sgq.5 
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 8, non-coding RNA. (from RefSeq NR_164824) ENST00000039989.1 ENST00000039989.2 ENST00000039989.3 ENST00000039989.4 ENST00000039989.5 ENST00000039989.6 ENST00000039989.7 ENST00000039989.8 NR_164824 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 
ENST00000043402.8 RTN4R ENST00000043402.8 Homo sapiens reticulon 4 receptor (RTN4R), mRNA. (from RefSeq NM_023004) D3DX28 ENST00000043402.1 ENST00000043402.2 ENST00000043402.3 ENST00000043402.4 ENST00000043402.5 ENST00000043402.6 ENST00000043402.7 NM_023004 NOGOR Q9BZR6 RTN4R_HUMAN UNQ330/PRO526 uc002zrv.1 uc002zrv.2 uc002zrv.3 uc002zrv.4 uc002zrv.5 This gene encodes the receptor for reticulon 4, oligodendrocyte myelin glycoprotein and myelin-associated glycoprotein. This receptor mediates axonal growth inhibition and may play a role in regulating axonal regeneration and plasticity in the adult central nervous system. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AL834449.1, ERR279866.1216.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000043402.8/ ENSP00000043402.7 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for RTN4, OMG and MAG. Mediates axonal growth inhibition and may play a role in regulating axonal regeneration and plasticity in the adult central nervous system. Acts in conjunction with RTN4 and LIGO1 in regulating neuronal precursor cell motility during cortical development (By similarity). Homomultimer. Interacts with LINGO1. Interacts with KIAA0319L. Q8IZA0:KIAA0319L; NbExp=4; IntAct=EBI-5240240, EBI-5240269; Cell membrane; Lipid-anchor, GPI-anchor. Widespread in the brain but highest levels in the gray matter. Low levels in heart and kidney not expressed in oligodendrocytes (white matter). Belongs to the Nogo receptor family. Contains 8 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. Contains 1 LRRNT domain. Name=Protein Spotlight; Note=Nerve regrowth: nipped by a no-go - Issue 69 of April 2006; URL="http://web.expasy.org/spotlight/back_issues/sptlt069.shtml"; protein binding endoplasmic reticulum plasma membrane integral component of plasma membrane cell surface receptor signaling pathway axonogenesis heparin binding lipid binding cell surface negative regulation of neuron projection development membrane corpus callosum development neuronal signal transduction axon dendrite growth cone negative regulation of axon extension anchored component of membrane anchored component of external side of plasma membrane positive regulation of Rho protein signal transduction chondroitin sulfate binding signaling receptor activity neuregulin receptor activity cell projection neuron projection neuronal cell body dendritic shaft perikaryon positive regulation of GTPase activity axonal growth cone macromolecular complex binding membrane raft negative regulation of axon regeneration negative regulation of axonogenesis extracellular exosome presynapse glutamatergic synapse ganglioside GM1 binding ganglioside GT1b binding uc002zrv.1 uc002zrv.2 uc002zrv.3 uc002zrv.4 uc002zrv.5 
ENST00000044462.12 PSMA4 ENST00000044462.12 Homo sapiens proteasome 20S subunit alpha 4 (PSMA4), transcript variant 1, mRNA. (from RefSeq NM_002789) D3DW86 ENST00000044462.1 ENST00000044462.10 ENST00000044462.11 ENST00000044462.2 ENST00000044462.3 ENST00000044462.4 ENST00000044462.5 ENST00000044462.6 ENST00000044462.7 ENST00000044462.8 ENST00000044462.9 HC9 NM_002789 P25789 PSA4_HUMAN PSC9 Q53XP2 Q567Q5 Q8TBD1 uc002bdu.1 uc002bdu.2 uc002bdu.3 uc002bdu.4 uc002bdu.5 uc002bdu.6 This gene encodes a core alpha subunit of the 20S proteosome, which is a highly ordered ring-shaped structure composed of four rings of 28 non-identical subunits. Proteasomes cleave peptides in an ATP- and ubiquitin-dependent manner. [provided by RefSeq, Aug 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803615.40060.1, SRR1803615.115885.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000044462.12/ ENSP00000044462.7 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. Cleavage of peptide bonds with very broad specificity. The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits. The 20S proteasome core is composed of 28 subunits that are arranged in four stacked rings, resulting in a barrel-shaped structure. The two end rings are each formed by seven alpha subunits, and the two central rings are each formed by seven beta subunits. The catalytic chamber with the active sites is on the inside of the barrel. Interaction with HTLV-1 TAX protein favors NFKB1 activation. P25786:PSMA1; NbExp=3; IntAct=EBI-359310, EBI-359352; P25787:PSMA2; NbExp=6; IntAct=EBI-359310, EBI-603262; P25788:PSMA3; NbExp=4; IntAct=EBI-359310, EBI-348380; O14818:PSMA7; NbExp=6; IntAct=EBI-359310, EBI-603272; Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P25789-1; Sequence=Displayed; Name=2; IsoId=P25789-2; Sequence=VSP_043102; Note=No experimental confirmation available; Down-regulated by antioxidants BO-653 and probucol. Belongs to the peptidase T1A family. MAPK cascade protein polyubiquitination proteasome complex P-body stimulatory C-type lectin receptor signaling pathway antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent endopeptidase activity threonine-type endopeptidase activity protein binding nucleus nucleoplasm cytoplasm cytosol proteasome core complex proteolysis ubiquitin-dependent protein catabolic process regulation of cellular amino acid metabolic process peptidase activity proteasomal protein catabolic process proteasomal ubiquitin-independent protein catabolic process negative regulation of G2/M transition of mitotic cell cycle viral process protein deubiquitination hydrolase activity proteasome core complex, alpha-subunit complex anaphase-promoting complex-dependent catabolic process SCF-dependent proteasomal ubiquitin-dependent protein catabolic process tumor necrosis factor-mediated signaling pathway NIK/NF-kappaB signaling Fc-epsilon receptor signaling pathway proteasome-mediated ubiquitin-dependent protein catabolic process intracellular membrane-bounded organelle regulation of mRNA stability post-translational protein modification T cell receptor signaling pathway proteolysis involved in cellular protein catabolic process transmembrane transport Wnt signaling pathway, planar cell polarity pathway regulation of transcription from RNA polymerase II promoter in response to hypoxia extracellular exosome interleukin-1-mediated signaling pathway negative regulation of canonical Wnt signaling pathway positive regulation of canonical Wnt signaling pathway regulation of mitotic cell cycle phase transition regulation of hematopoietic stem cell differentiation uc002bdu.1 uc002bdu.2 uc002bdu.3 uc002bdu.4 uc002bdu.5 uc002bdu.6 
ENST00000045083.6 RIPOR3 ENST00000045083.6 Homo sapiens RIPOR family member 3 (RIPOR3), transcript variant 1, mRNA. (from RefSeq NM_080829) C20orf175 ENST00000045083.1 ENST00000045083.2 ENST00000045083.3 ENST00000045083.4 ENST00000045083.5 FA65C_HUMAN FAM65C NM_080829 Q5QPB6 Q96MK2 Q9NQQ2 uc002xvm.1 uc002xvm.2 uc002xvm.3 uc002xvm.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96MK2-1; Sequence=Displayed; Note=No experimental confirmation available; Name=2; IsoId=Q96MK2-2; Sequence=VSP_026496; Note=No experimental confirmation available; Belongs to the FAM65 family. uc002xvm.1 uc002xvm.2 uc002xvm.3 uc002xvm.4 
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 
ENST00000056217.10 ARHGEF5 ENST00000056217.10 Homo sapiens Rho guanine nucleotide exchange factor 5 (ARHGEF5), mRNA. (from RefSeq NM_005435) A6NNJ2 ARHG5_HUMAN ENST00000056217.1 ENST00000056217.2 ENST00000056217.3 ENST00000056217.4 ENST00000056217.5 ENST00000056217.6 ENST00000056217.7 ENST00000056217.8 ENST00000056217.9 NM_005435 Q12774 Q6ZML7 TIM uc003wel.1 uc003wel.2 uc003wel.3 uc003wel.4 uc003wel.5 Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK160365.1, BC136661.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000056217.10/ ENSP00000056217.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q12774-1; Sequence=Displayed; Name=2; IsoId=Q12774-2; Sequence=VSP_035175; Mainly expressed in kidney, liver, pancreas, lung and placenta. Contains 1 DH (DBL-homology) domain. Contains 1 PH domain. Contains 1 SH3 domain. Sequence=BAD18708.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; podosome myeloid dendritic cell chemotaxis guanyl-nucleotide exchange factor activity Rho guanyl-nucleotide exchange factor activity protein binding GTP binding nucleus nucleoplasm cytoplasm cytosol plasma membrane G-protein coupled receptor signaling pathway lipid binding actin cytoskeleton organization cell junction regulation of actin cytoskeleton organization regulation of Rho protein signal transduction intracellular signal transduction cell projection positive regulation of apoptotic process regulation of GTPase activity positive regulation of JUN kinase activity positive regulation of GTPase activity regulation of small GTPase mediated signal transduction positive regulation of sequence-specific DNA binding transcription factor activity regulation of cytoskeleton organization positive regulation of stress fiber assembly positive regulation of podosome assembly cell periphery positive regulation of protein import regulation of ERK1 and ERK2 cascade uc003wel.1 uc003wel.2 uc003wel.3 uc003wel.4 uc003wel.5 
ENST00000056233.4 NFE2L3 ENST00000056233.4 Homo sapiens nuclear factor, erythroid 2 like 3 (NFE2L3), mRNA. (from RefSeq NM_004289) ENST00000056233.1 ENST00000056233.2 ENST00000056233.3 NF2L3_HUMAN NM_004289 NRF3 Q6NUS0 Q7Z498 Q86UJ4 Q86VR5 Q9UQA4 Q9Y4A8 uc003sxq.1 uc003sxq.2 uc003sxq.3 uc003sxq.4 uc003sxq.5 This gene encodes a member of the cap 'n' collar basic-region leucine zipper family of transcription factors. The encoded protein heterodimerizes with small musculoaponeurotic fibrosarcoma factors to bind antioxidant response elements in target genes. This protein is a membrane bound glycoprotein that is targeted to the endoplasmic reticulum and the nuclear envelope. Pseudogenes of this gene are found on chromosomes 16, 17, and 18. [provided by RefSeq, Mar 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC068455.1, AF134891.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000056233.4/ ENSP00000056233.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Activates erythroid-specific, globin gene expression. Heterodimer with MAFG, MAFK and other small MAF proteins that binds to the MAF recognition elements (MARE). Nucleus (By similarity). Highly expressed in human placenta and also in B-cell and monocyte cell lines. Low expression in heart, brain, lung, skeletal muscle, kidney and pancreas. Belongs to the bZIP family. CNC subfamily. Contains 1 bZIP (basic-leucine zipper) domain. Sequence=AAP22344.1; Type=Erroneous gene model prediction; Sequence=BAA76288.1; Type=Erroneous initiation; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin transcription regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity protein binding nucleus cytoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter positive regulation of transcription, DNA-templated uc003sxq.1 uc003sxq.2 uc003sxq.3 uc003sxq.4 uc003sxq.5 
ENST00000057513.8 TNIP3 ENST00000057513.8 Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 1, mRNA. (from RefSeq NM_024873) A1A574 A8K2Z4 ABIN3 ENST00000057513.1 ENST00000057513.2 ENST00000057513.3 ENST00000057513.4 ENST00000057513.5 ENST00000057513.6 ENST00000057513.7 LIND NM_024873 Q96KP6 Q96PQ3 Q9H780 TNIP3_HUMAN uc010ing.1 uc010ing.2 uc010ing.3 uc010ing.4 uc010ing.5 Binds to zinc finger protein TNFAIP3 and inhibits NF- kappa-B activation induced by tumor necrosis factor, Toll-like receptor 4 (TLR4), interleukin-1 and 12-O-tetradecanoylphorbol-13- acetate. Overexpression inhibits NF-kappa-B-dependent gene expression in response to lipopolysaccharide at a level downstream of TRAF6 and upstream of IKBKB. NF-kappa-B inhibition is independent of TNFAIP3 binding. Interacts with TNFAIP3. Interacts with polyubiquitin. Highly expressed in lung, lymph node, thymus and fetal liver. Expressed at lower levels in bone marrow, brain, kidney, spleen, leukocytes and tonsils. Could be detected in heart, salivary gland, adrenal gland, pancreas, ovary and fetal brain. High levels detected in liver, colon, small intestine, muscle, stomach, testis, placenta, thyroid, uterus, prostate, skin and PBL. By Listeria infection. Expression is slightly down- regulated by dexamethasone and slightly up-regulated by IL-10. Strongly induced mRNA and protein expression by lipopolysaccharide. Sequence=BAB15018.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15018.1; Type=Frameshift; Positions=272; Sequence=CAC85929.1; Type=Frameshift; Positions=272; MyD88-independent toll-like receptor signaling pathway protein binding cytosol inflammatory response protein deubiquitination polyubiquitin binding toll-like receptor 4 signaling pathway negative regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of transcription from RNA polymerase II promoter cellular response to lipopolysaccharide uc010ing.1 uc010ing.2 uc010ing.3 uc010ing.4 uc010ing.5 
ENST00000060969.6 SIKE1 ENST00000060969.6 Homo sapiens suppressor of IKBKE 1 (SIKE1), transcript variant 4, non-coding RNA. (from RefSeq NR_049742) ENST00000060969.1 ENST00000060969.2 ENST00000060969.3 ENST00000060969.4 ENST00000060969.5 NR_049742 Q5TEZ7 Q5TEZ9 Q68DZ4 Q9BRV8 Q9H778 SIKE SIKE1_HUMAN uc001efo.1 uc001efo.2 uc001efo.3 uc001efo.4 uc001efo.5 uc001efo.6 SIKE interacts with IKK-epsilon (IKBKE; MIM 605048) and TBK1 (MIM 604834) and acts as a suppressor of TLR3 (MIM 603029) and virus-triggered interferon activation pathways (Huang et al., 2005 [PubMed 16281057]).[supplied by OMIM, Mar 2008]. Physiological suppressor of IKK-epsilon and TBK1 that plays an inhibitory role in virus- and TLR3-triggered IRF3. Inhibits TLR3-mediated activation of interferon-stimulated response elements (ISRE) and the IFN-beta promoter. May act by disrupting the interactions of IKBKE or TBK1 with TICAM1/TRIF, IRF3 and DDX58/RIG-I. Does not inhibit NF-kappa-B activation pathways. Interacts with IKBKE and TBK1 via its coiled coil region. Interaction with TBK1 is disrupted upon viral infection or TLR3 stimulation. Q9Y228:TRAF3IP3; NbExp=2; IntAct=EBI-1773646, EBI-765817; Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BRV8-1; Sequence=Displayed; Name=2; IsoId=Q9BRV8-2; Sequence=VSP_027543; Note=No experimental confirmation available; Widely expressed. Expressed in brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, small intestine, placenta, lung and leukocytes. Present in all cell lines tested (at protein level). Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the SIKE family. Sequence=CAI18824.1; Type=Erroneous gene model prediction; protein binding cytoplasm cytosol Rho GTPase binding protein kinase binding uc001efo.1 uc001efo.2 uc001efo.3 uc001efo.4 uc001efo.5 uc001efo.6 
ENST00000061240.7 TLL1 ENST00000061240.7 Homo sapiens tolloid like 1 (TLL1), transcript variant 1, mRNA. (from RefSeq NM_012464) B2RMU2 ENST00000061240.1 ENST00000061240.2 ENST00000061240.3 ENST00000061240.4 ENST00000061240.5 ENST00000061240.6 NM_012464 O43897 Q96AN3 Q9NQS4 TLL TLL1_HUMAN uc003irh.1 uc003irh.2 uc003irh.3 uc003irh.4 This gene encodes an astacin-like, zinc-dependent, metalloprotease that belongs to the peptidase M12A family. This protease processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Studies in mice suggest that this gene plays multiple roles in the development of mammalian heart, and is essential for the formation of the interventricular septum. Allelic variants of this gene are associated with atrial septal defect type 6. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]. Protease which processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogenesis. Binds 1 zinc ion per subunit (By similarity). Secreted (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O43897-1; Sequence=Displayed; Name=2; IsoId=O43897-2; Sequence=VSP_017197, VSP_017198; Note=No experimental confirmation available; Defects in TLL1 are the cause of atrial septal defect type 6 (ASD6) [MIM:613087]. A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Belongs to the peptidase M12A family. Contains 5 CUB domains. Contains 2 EGF-like domains. skeletal system development metalloendopeptidase activity calcium ion binding extracellular region proteolysis multicellular organism development peptidase activity metallopeptidase activity zinc ion binding hydrolase activity extracellular matrix disassembly cell differentiation metal ion binding uc003irh.1 uc003irh.2 uc003irh.3 uc003irh.4 
ENST00000064571.3 CBLN4 ENST00000064571.3 Homo sapiens cerebellin 4 precursor (CBLN4), mRNA. (from RefSeq NM_080617) CBLN4_HUMAN CBLNL1 ENST00000064571.1 ENST00000064571.2 NM_080617 Q9NTU7 UNQ718/PRO1382 uc002xxa.1 uc002xxa.2 uc002xxa.3 uc002xxa.4 uc002xxa.5 uc002xxa.6 This gene encodes a member of a family of small secreted proteins containing C1Q domains. Members of this family are involved in regulation of neurexin signalling during synapse development. The mouse homolog of the protein encoded by this gene competes with netrin to bind to the deleted in colorectal cancer receptor. [provided by RefSeq, Aug 2012]. ##Evidence-Data-START## Transcript exon combination :: BC050026.1, SRR1803617.233939.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2142586 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000064571.3/ ENSP00000064571.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May be involved in synaptic functions in the CNS. Can enable ER export and secretion of CBLN3 (By similarity). Homohexamer; disulfide-linked homotrimers. The trimers are assembled via the globular C1q domains. The trimers associate via N-terminal cysteine residues to form disulfide-linked hexamers. May interact with CBLN1, CBLN2 and CBLN3 (By similarity). Secreted (By similarity). Cell junction, synapse (By similarity). Contains 1 C1q domain. extracellular region extracellular space protein secretion cell junction synapse uc002xxa.1 uc002xxa.2 uc002xxa.3 uc002xxa.4 uc002xxa.5 uc002xxa.6 
ENST00000064724.8 CLDN11 ENST00000064724.8 Homo sapiens claudin 11 (CLDN11), transcript variant 1, mRNA. (from RefSeq NM_005602) B2R7C1 CLD11_HUMAN D3DNQ5 ENST00000064724.1 ENST00000064724.2 ENST00000064724.3 ENST00000064724.4 ENST00000064724.5 ENST00000064724.6 ENST00000064724.7 NM_005602 O75508 OSP OTM Q5U0P3 uc003fgx.1 uc003fgx.2 uc003fgx.3 uc003fgx.4 uc003fgx.5 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is a major component of central nervous system (CNS) myelin and plays an important role in regulating proliferation and migration of oligodendrocytes. Mouse studies showed that the gene deficiency results in deafness and loss of the Sertoli cell epithelial phenotype in the testis. This protein is a tight junction protein at the human blood-testis barrier (BTB), and the BTB disruption is related to a dysfunction of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Aug 2010]. Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity (By similarity). Interacts with tetraspanin-3/TSPAN3 (By similarity). Cell junction, tight junction. Cell membrane; Multi-pass membrane protein. Belongs to the claudin family. structural molecule activity protein binding plasma membrane bicellular tight junction membrane integral component of membrane calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules cell junction identical protein binding uc003fgx.1 uc003fgx.2 uc003fgx.3 uc003fgx.4 uc003fgx.5 
ENST00000064778.8 FAM168A ENST00000064778.8 Homo sapiens family with sequence similarity 168 member A (FAM168A), transcript variant 1, mRNA. (from RefSeq NM_001286050) A2ICY2 A2ID81 ENST00000064778.1 ENST00000064778.2 ENST00000064778.3 ENST00000064778.4 ENST00000064778.5 ENST00000064778.6 ENST00000064778.7 F168A_HUMAN KIAA0280 NM_001286050 Q86UG2 Q92567 TCRP1 uc001otz.1 uc001otz.2 uc001otz.3 May interact with FAM168B. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q92567-1; Sequence=Displayed; Name=2; IsoId=Q92567-2; Sequence=VSP_010095; Name=3; IsoId=Q92567-3; Sequence=VSP_010095, VSP_034630; Belongs to the FAM168 protein family. Sequence=BAA13408.1; Type=Erroneous initiation; protein binding positive regulation of base-excision repair uc001otz.1 uc001otz.2 uc001otz.3 
ENST00000064780.7 RELT ENST00000064780.7 Homo sapiens RELT TNF receptor (RELT), transcript variant 2, mRNA. (from RefSeq NM_152222) ENST00000064780.1 ENST00000064780.2 ENST00000064780.3 ENST00000064780.4 ENST00000064780.5 ENST00000064780.6 NM_152222 Q86V34 Q969Z4 Q96JU1 Q9BUX7 TNFRSF19L TR19L_HUMAN uc001otv.1 uc001otv.2 uc001otv.3 uc001otv.4 uc001otv.5 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is especially abundant in hematologic tissues. It has been shown to activate the NF-kappaB pathway and selectively bind TNF receptor-associated factor 1 (TRAF1). This receptor is capable of stimulating T-cell proliferation in the presence of CD3 signaling, which suggests its regulatory role in immune response. Two alternatively spliced transcript variants of this gene encoding the same protein have been reported. [provided by RefSeq, Jul 2008]. Mediates activation of NF-kappa-B. May play a role in T- cell activation. Associates with TRAF1. Interacts with RELL1, RELL2 and OXSR1. Cell membrane; Single-pass type I membrane protein. Cytoplasm. Highest levels are in spleen, lymph node, thymus, peripheral blood leukocytes, bone marrow and fetal liver. Very low levels in skeletal muscle, testis and colon. Not detected in brain, kidney and pancreas. Phosphorylated in vitro by OXSR1. Belongs to the RELT family. Contains 1 TNFR-Cys repeat. Sequence=BAB84954.1; Type=Frameshift; Positions=Several; protein binding nucleus cytoplasm plasma membrane apoptotic process membrane integral component of membrane perinuclear region of cytoplasm uc001otv.1 uc001otv.2 uc001otv.3 uc001otv.4 uc001otv.5 
ENST00000066544.8 CDC27 ENST00000066544.8 Homo sapiens cell division cycle 27 (CDC27), transcript variant 10, non-coding RNA. (from RefSeq NR_148340) ANAPC3 CDC27_HUMAN D0S1430E D17S978E ENST00000066544.1 ENST00000066544.2 ENST00000066544.3 ENST00000066544.4 ENST00000066544.5 ENST00000066544.6 ENST00000066544.7 NR_148340 P30260 Q16349 Q96F35 uc002ild.1 uc002ild.2 uc002ild.3 uc002ild.4 uc002ild.5 uc002ild.6 The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae protein Cdc27, and the gene product of Schizosaccharomyces pombe nuc 2. This protein is a component of the anaphase-promoting complex (APC), which is composed of eight protein subunits and is highly conserved in eukaryotic cells. This complex catalyzes the formation of cyclin B-ubiquitin conjugate, which is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. The protein encoded by this gene and three other members of the APC complex contain tetratricopeptide (TPR) repeats, which are important for protein-protein interactions. This protein was shown to interact with mitotic checkpoint proteins including Mad2, p55CDC and BUBR1, and it may thus be involved in controlling the timing of mitosis. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 22 and Y. [provided by RefSeq, May 2014]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.250251.1 [ECO:0000332] ##Evidence-Data-END## Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Protein modification; protein ubiquitination. The APC/C is composed of at least 12 subunits. Interacts with RB. Interacts with FAM168B/MANI (By similarity). Q12834:CDC20; NbExp=6; IntAct=EBI-994813, EBI-367462; P12830:CDH1; NbExp=2; IntAct=EBI-994813, EBI-727477; Q9UKT4:FBXO5; NbExp=2; IntAct=EBI-994813, EBI-852298; Q9UM11:FZR1; NbExp=8; IntAct=EBI-994813, EBI-724997; Q9UI95:MAD2L2; NbExp=2; IntAct=EBI-994813, EBI-77889; P16333:NCK1; NbExp=3; IntAct=EBI-994813, EBI-389883; P51955:NEK2; NbExp=2; IntAct=EBI-994813, EBI-633182; P60484:PTEN; NbExp=7; IntAct=EBI-994813, EBI-696162; Nucleus. Phosphorylated. Phosphorylation on Ser-426 and Thr-446 occurs specifically during mitosis. Belongs to the APC3/CDC27 family. Contains 9 TPR repeats. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cdc27/"; protein binding nucleus nucleoplasm anaphase-promoting complex cytoplasm centrosome cytosol ubiquitin-dependent protein catabolic process metaphase/anaphase transition of mitotic cell cycle protein ubiquitination protein phosphatase binding anaphase-promoting complex-dependent catabolic process protein K11-linked ubiquitination regulation of mitotic cell cycle phase transition spindle microtubule uc002ild.1 uc002ild.2 uc002ild.3 uc002ild.4 uc002ild.5 uc002ild.6 
ENST00000072516.7 IL1RAP ENST00000072516.7 Homo sapiens interleukin 1 receptor accessory protein (IL1RAP), transcript variant 4, mRNA. (from RefSeq NM_001167929) B1NLD0 C3orf13 D3DNW0 ENST00000072516.1 ENST00000072516.2 ENST00000072516.3 ENST00000072516.4 ENST00000072516.5 ENST00000072516.6 IL1AP_HUMAN IL1R3 NM_001167929 O14915 Q86WJ7 Q9NPH3 uc003fso.1 uc003fso.2 This gene encodes a component of the interleukin 1 receptor complex, which initiates signalling events that result in the activation of interleukin 1-responsive genes. Alternative splicing of this gene results in membrane-bound and soluble isoforms differing in their C-terminus. The ratio of soluble to membrane-bound forms increases during acute-phase induction or stress. [provided by RefSeq, Jul 2018]. Coreceptor with IL1R1. Associates with IL1R1 bound to IL1B to form the high affinity interleukin-1 receptor complex which mediates interleukin-1-dependent activation of NF-kappa-B and other pathways. Signaling involves the recruitment of adapter molecules such as TOLLIP, MYD88, and IRAK1 or IRAK2 via the respective TIR domains of the receptor/coreceptor subunits. Recruits TOLLIP to the signaling complex. Does not bind to interleukin-1 alone; binding of IL1RN to IL1R1, prevents its association with IL1R1 to form a signaling complex. The cellular response is modulated through a non-signaling association with the membrane IL1R2 decoy receptor. Secreted forms (isoforms 2 and 3) associate with secreted ligand-bound IL1R2 and increase the affinity of secreted IL1R2 for IL1B; this complex formation may be the dominant mechanism for neutralization of IL1B by secreted/soluble receptors. The interleukin-1 receptor complex is a heterodimer of IL1R1 and IL1RAP. Associates with IL1R2 to form a non-signaling interleukin-1 receptor complex. Isoform 1: Cell membrane; Single-pass type I membrane protein. Isoform 2: Secreted. Isoform 3: Secreted. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=Membrane-bound IL-1RAcP, mIL-1RAcP; IsoId=Q9NPH3-1; Sequence=Displayed; Name=2; Synonyms=Soluble IL-1RAcP, sIL-1RAcP; IsoId=Q9NPH3-2; Sequence=VSP_008050, VSP_008051; Name=3; Synonyms=Soluble IL-1RAcP-beta, sIL-1RAcP-beta; IsoId=Q9NPH3-3; Sequence=VSP_008052; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Name=4; Synonyms=AcPb, mIL-1RAcP687; IsoId=Q9NPH3-5; Sequence=VSP_041256; Detected in liver, skin, placenta, thymus and lung. Isoform 1 is down-regulated by phorbol ester treatment. Isoform 2 is induced by phorbol ester treatment. Belongs to the interleukin-1 receptor family. Contains 3 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 TIR domain. interleukin-33 receptor activity immune system process interleukin-1 receptor activity interleukin-1 receptor binding extracellular region plasma membrane integral component of plasma membrane inflammatory response immune response signal transduction membrane integral component of membrane cytokine-mediated signaling pathway positive regulation of interleukin-13 production positive regulation of interleukin-5 production interleukin-33-mediated signaling pathway interleukin-2 biosynthetic process innate immune response positive regulation of NF-kappaB transcription factor activity positive regulation of synapse assembly macromolecular complex assembly interleukin-1-mediated signaling pathway interleukin-4 secretion glutamatergic synapse trans-synaptic signaling by trans-synaptic complex synaptic membrane adhesion regulation of presynapse assembly positive regulation of interleukin-6 secretion uc003fso.1 uc003fso.2 
ENST00000072644.7 YIPF1 ENST00000072644.7 Homo sapiens Yip1 domain family member 1 (YIPF1), transcript variant 2, non-coding RNA. (from RefSeq NR_036639) B2RCM7 D3DQ40 ENST00000072644.1 ENST00000072644.2 ENST00000072644.3 ENST00000072644.4 ENST00000072644.5 ENST00000072644.6 NR_036639 Q9NWJ1 Q9Y548 YIPF1_HUMAN uc001cvu.1 uc001cvu.2 uc001cvu.3 uc001cvu.4 uc001cvu.5 uc001cvu.6 Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y548-1; Sequence=Displayed; Name=2; IsoId=Q9Y548-2; Sequence=VSP_019437; Belongs to the YIP1 family. Sequence=AAH09674.1; Type=Erroneous initiation; Golgi trans cisterna protein binding endosome Golgi apparatus Golgi medial cisterna trans-Golgi network membrane integral component of membrane vesicle-mediated transport Rab GTPase binding transport vesicle late endosome membrane uc001cvu.1 uc001cvu.2 uc001cvu.3 uc001cvu.4 uc001cvu.5 uc001cvu.6 
ENST00000072869.9 ADCK2 ENST00000072869.9 Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA. (from RefSeq NM_052853) AARF ADCK2_HUMAN ENST00000072869.1 ENST00000072869.2 ENST00000072869.3 ENST00000072869.4 ENST00000072869.5 ENST00000072869.6 ENST00000072869.7 ENST00000072869.8 NM_052853 Q7Z695 Q96CN6 Q9Y6T5 uc003vvy.1 uc003vvy.2 uc003vvy.3 The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr). Membrane; Single-pass membrane protein (Potential). Belongs to the protein kinase superfamily. ADCK protein kinase family. Contains 1 protein kinase domain. Sequence=AAH14107.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; nucleotide binding protein serine/threonine kinase activity ATP binding protein phosphorylation membrane integral component of membrane kinase activity phosphorylation transferase activity uc003vvy.1 uc003vvy.2 uc003vvy.3 
ENST00000075120.12 SLC2A3 ENST00000075120.12 Homo sapiens solute carrier family 2 member 3 (SLC2A3), mRNA. (from RefSeq NM_006931) B2R606 D3DUU6 ENST00000075120.1 ENST00000075120.10 ENST00000075120.11 ENST00000075120.2 ENST00000075120.3 ENST00000075120.4 ENST00000075120.5 ENST00000075120.6 ENST00000075120.7 ENST00000075120.8 ENST00000075120.9 GLUT3 GTR3_HUMAN NM_006931 P11169 Q6I9U2 Q9UG15 uc001qtr.1 uc001qtr.2 uc001qtr.3 uc001qtr.4 uc001qtr.5 Facilitative glucose transporter. Probably a neuronal glucose transporter. Membrane; Multi-pass membrane protein. Highly expressed in brain. Expressed in many tissues. Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. glucose transmembrane transporter activity protein binding glucose binding plasma membrane integral component of plasma membrane carbohydrate metabolic process carbohydrate transport membrane integral component of membrane L-ascorbic acid metabolic process transmembrane transporter activity secretory granule membrane specific granule membrane cell projection perikaryon neutrophil degranulation transmembrane transport extracellular exosome tertiary granule membrane ficolin-1-rich granule membrane glucose transmembrane transport uc001qtr.1 uc001qtr.2 uc001qtr.3 uc001qtr.4 uc001qtr.5 
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 
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 
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 
ENST00000156499.7 KLK14 ENST00000156499.7 Homo sapiens kallikrein related peptidase 14 (KLK14), transcript variant 2, mRNA. (from RefSeq NM_022046) A0A1R3UHJ7 ENST00000156499.1 ENST00000156499.2 ENST00000156499.3 ENST00000156499.4 ENST00000156499.5 ENST00000156499.6 NM_022046 uc061bwe.1 uc061bwe.2 This gene encodes a member of the kallikrein subfamily of serine proteases that have diverse physiological functions such as regulation of blood pressure and desquamation. The altered expression of this gene is implicated in the progression of different cancers including breast and prostate tumors. The encoded protein is a precursor that is proteolytically processed to generate the functional enzyme. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]. uc061bwe.1 uc061bwe.2 
ENST00000156626.12 ST6GALNAC1 ENST00000156626.12 Homo sapiens ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (ST6GALNAC1), transcript variant 1, mRNA. (from RefSeq NM_018414) ENST00000156626.1 ENST00000156626.10 ENST00000156626.11 ENST00000156626.2 ENST00000156626.3 ENST00000156626.4 ENST00000156626.5 ENST00000156626.6 ENST00000156626.7 ENST00000156626.8 ENST00000156626.9 NM_018414 Q6UW90 Q9NSC6 Q9NSC7 SIA7A_HUMAN SIAT7A UNQ543/PRO848 uc002jsh.1 uc002jsh.2 uc002jsh.3 uc002jsh.4 uc002jsh.5 uc002jsh.6 Glycosylation of proteins affects cell-cell interaction, interactions with the matrix, and the functions of intracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuraminic acid (NeuAc), in an alpha-2,6 linkage to O-linked GalNAc residues. The cancer-associated sialyl-Tn (sTn) antigen is formed by ST6GALNAC1-catalyzed sialylation of GalNAc residues on mucins (Ikehara et al., 1999 [PubMed 10536037]; Sewell et al., 2006 [PubMed 16319059]).[supplied by OMIM, Mar 2008]. CMP-N-acetylneuraminate + glycano-(1->3)-(N- acetyl-alpha-D-galactosaminyl)-glycoprotein = CMP + glycano- ((2->6)-alpha-N-acetylneuraminyl)-(N-acetyl-D-galactosaminyl)- glycoprotein. Protein modification; protein glycosylation. Golgi apparatus membrane; Single-pass type II membrane protein (Potential). Belongs to the glycosyltransferase 29 family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org//Genes/ST6GALNAC1ID44087ch17q25.html"; Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ST6GALNAC1"; Name=Functional Glycomics Gateway - GTase; Note=ST6GalNAc I; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_630"; Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity Golgi apparatus protein glycosylation sialyltransferase activity oligosaccharide biosynthetic process membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups sialylation uc002jsh.1 uc002jsh.2 uc002jsh.3 uc002jsh.4 uc002jsh.5 uc002jsh.6 
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 
ENST00000165698.9 REEP1 ENST00000165698.9 Homo sapiens receptor accessory protein 1 (REEP1), transcript variant 2, mRNA. (from RefSeq NM_022912) B7Z4D7 B7Z4F2 B7Z5R9 C2orf23 D6W5M2 ENST00000165698.1 ENST00000165698.2 ENST00000165698.3 ENST00000165698.4 ENST00000165698.5 ENST00000165698.6 ENST00000165698.7 ENST00000165698.8 NM_022912 Q53TI0 Q9H902 REEP1_HUMAN uc002srh.1 uc002srh.2 uc002srh.3 uc002srh.4 uc002srh.5 This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC064846.1, SRR1660803.235260.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: inferred from homology ##RefSeq-Attributes-END## Required for endoplasmic reticulum (ER) network formation, shaping and remodeling; it links ER tubules to the cytoskeleton. May also enhance the cell surface expression of odorant receptors. Interacts with SPAST and ATL1; it preferentially interacts with SPAST isoform 1. Interacts (via C-terminus) with microtubules. Interacts with odorant receptor proteins (By similarity). Membrane. Mitochondrion membrane; Multi-pass membrane protein. Endoplasmic reticulum. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9H902-1; Sequence=Displayed; Name=2; IsoId=Q9H902-2; Sequence=VSP_042573; Note=No experimental confirmation available; Name=3; IsoId=Q9H902-3; Sequence=VSP_043251; Note=No experimental confirmation available; Name=4; IsoId=Q9H902-4; Sequence=VSP_043252; Note=No experimental confirmation available; Defects in REEP1 are the cause of spastic paraplegia autosomal dominant type 31 (SPG31) [MIM:610250]. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Defects in REEP1 are the cause of distal hereditary motor neuronopathy 5B (HMN5B) [MIM:614751]. A disorder characterized by distal muscular atrophy mainly affecting the upper extremities, in contrast to other distal motor neuronopathies. These constitute a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMN5B is characterized by onset in the first or second decade of distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles, but also affecting the lower legs, resulting in abnormal gait and pes cavus. Belongs to the DP1 family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/REEP1"; protein binding cytoplasm mitochondrion endoplasmic reticulum endoplasmic reticulum membrane microtubule binding membrane integral component of membrane olfactory receptor binding mitochondrial membrane regulation of intracellular transport protein insertion into membrane endoplasmic reticulum tubular network endoplasmic reticulum tubular network organization uc002srh.1 uc002srh.2 uc002srh.3 uc002srh.4 uc002srh.5 
ENST00000166139.9 FSTL3 ENST00000166139.9 Homo sapiens follistatin like 3 (FSTL3), mRNA. (from RefSeq NM_005860) A8K7E3 ENST00000166139.1 ENST00000166139.2 ENST00000166139.3 ENST00000166139.4 ENST00000166139.5 ENST00000166139.6 ENST00000166139.7 ENST00000166139.8 FLRG FSTL3_HUMAN NM_005860 O95633 UNQ674/PRO1308 uc002lpk.1 uc002lpk.2 uc002lpk.3 uc002lpk.4 Follistatin-like 3 is a secreted glycoprotein of the follistatin-module-protein family. It may have a role in leukemogenesis. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC005839.2, AY358917.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000166139.9/ ENSP00000166139.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Isoform 1 or the secreted form is a binding and antagonizing protein for members of the TGF-beta family, such us activin, BMP2 and MSTN. Inhibits activin A-, activin B-, BMP2- and MSDT-induced cellular signaling; more effective on activin A than on activin B. Involved in bone formation; inhibits osteoclast differentiationc. Involved in hematopoiesis; involved in differentiation of hemopoietic progenitor cells, increases hematopoietic cell adhesion to fibronectin and seems to contribute to the adhesion of hematopoietic precursor cells to the bone marrow stroma. Isoform 2 or the nuclear form is probably involved in transcriptional regulation via interaction with MLLT10. Interacts with INHBA and INHBB. Interacts with FN1. Interacts with ADAM12. Isoform 2 interacts with MLLT10; the interaction enhances MLLT10 in vitro transcriptional activity and self-association. Interacts with MSTN. O43184-2:ADAM12; NbExp=4; IntAct=EBI-2625790, EBI-2625865; Isoform 1: Secreted. Isoform 2: Nucleus. Note=Although alternative initiation has been demonstrated and resulted in different localization, the major source of nuclear FSTL3 appears not to depend on translation initiation at Met-27 according to (PubMed:16150905). Event=Alternative initiation; Named isoforms=2; Name=1; IsoId=O95633-1; Sequence=Displayed; Name=2; IsoId=O95633-2; Sequence=VSP_038553; Expressed in a wide range of tissues. Note=A chromosomal aberration involving FSTL3 is found in a case of B-cell chronic lymphocytic leukemia. Translocation t(11;19)(q13;p13) with CCDN1. Contains 2 follistatin-like domains. Contains 2 Kazal-like domains. Contains 1 TB (TGF-beta binding) domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/FSTL3ID111ch19p13.html"; ossification kidney development fibronectin binding hematopoietic progenitor cell differentiation protein binding extracellular region extracellular space nucleus nucleoplasm endoplasmic reticulum lumen Golgi apparatus regulation of transcription from RNA polymerase II promoter multicellular organism development spermatogenesis male gonad development positive regulation of cell-cell adhesion secretory granule cell differentiation lung development adrenal gland development regulation of BMP signaling pathway negative regulation of BMP signaling pathway negative regulation of activin receptor signaling pathway post-translational protein modification cellular protein metabolic process neuron projection terminus negative regulation of osteoclast differentiation positive regulation of transcription from RNA polymerase II promoter activin binding cellular response to metal ion negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway uc002lpk.1 uc002lpk.2 uc002lpk.3 uc002lpk.4 
ENST00000166244.8 EPHA8 ENST00000166244.8 Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA. (from RefSeq NM_020526) EEK ENST00000166244.1 ENST00000166244.2 ENST00000166244.3 ENST00000166244.4 ENST00000166244.5 ENST00000166244.6 ENST00000166244.7 EPHA8_HUMAN HEK3 KIAA1459 NM_020526 P29322 Q6IN80 Q8IUX6 Q9NUA9 Q9P269 uc001bfx.1 uc001bfx.2 uc001bfx.3 This gene encodes a member of the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. The protein encoded by this gene functions as a receptor for ephrin A2, A3 and A5 and plays a role in short-range contact-mediated axonal guidance during development of the mammalian nervous system. [provided by RefSeq, Jul 2008]. Receptor tyrosine kinase which binds promiscuously GPI- anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. The GPI-anchored ephrin-A EFNA2, EFNA3, and EFNA5 are able to activate EPHA8 through phosphorylation. With EFNA5 may regulate integrin-mediated cell adhesion and migration on fibronectin substrate but also neurite outgrowth. During development of the nervous system plays also a role in axon guidance. Downstream effectors of the EPHA8 signaling pathway include FYN which promotes cell adhesion upon activation by EPHA8 and the MAP kinases in the stimulation of neurite outgrowth (By similarity). ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. Heterotetramer upon binding of the ligand. The heterotetramer is composed of an ephrin dimer and a receptor dimer. Oligomerization is probably required to induce biological responses. May also form heterodimers with other ephrin receptors (By similarity). Interacts with FYN; possible downstream effector of EPHA8 in regulation of cell adhesion. Interacts with PIK3CG; regulates integrin-mediated cell adhesion to substrate. Interacts with TIAM1; regulates clathrin-mediated endocytosis of EPHA8. Interacts with ANKS1A and ANKS1B; EPHA8 kinase activity- independent but stimulated by EPHA8 ubiquitination. Cell membrane (By similarity); Single-pass type I membrane protein (By similarity). Cell projection (By similarity). Early endosome membrane (By similarity). Note=Undergoes clathrin-mediated endocytosis upon EFNA5-binding and is targeted to early endosomes (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P29322-1; Sequence=Displayed; Name=2; IsoId=P29322-2; Sequence=VSP_041946, VSP_041947; Note=No experimental confirmation available; Phosphorylated. Phosphorylation is stimulated upon binding of its ligands including EFNA2, EFNA3 and EFNA5. Autophosphorylation on Tyr-616 is critical for association with FYN. Autophosphorylation on Tyr-839 modulates tyrosine kinase activity (By similarity). Ubiquitinated. Ubiquitination by CBL regulates the receptor stability and activity through proteasomal degradation. ANKS1A prevents ubiquitination and degradation (By similarity). Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily. Contains 1 Eph LBD (Eph ligand-binding) domain. Contains 2 fibronectin type-III domains. Contains 1 protein kinase domain. Contains 1 SAM (sterile alpha motif) domain. Sequence=CAA41980.1; Type=Erroneous initiation; Note=Translation N-terminally extended; nucleotide binding protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity ephrin receptor activity GPI-linked ephrin receptor activity transmembrane-ephrin receptor activity ATP binding endosome plasma membrane integral component of plasma membrane protein phosphorylation substrate-dependent cell migration cell adhesion transmembrane receptor protein tyrosine kinase signaling pathway multicellular organism development nervous system development axon guidance membrane integral component of membrane kinase activity phosphorylation neuron remodeling transferase activity peptidyl-tyrosine phosphorylation regulation of cell adhesion neuron projection development early endosome membrane regulation of cell adhesion mediated by integrin cell projection neuron projection receptor complex positive regulation of MAPK cascade positive regulation of phosphatidylinositol 3-kinase activity protein autophosphorylation ephrin receptor signaling pathway cellular response to follicle-stimulating hormone stimulus uc001bfx.1 uc001bfx.2 uc001bfx.3 
ENST00000166345.8 TRIP13 ENST00000166345.8 Homo sapiens thyroid hormone receptor interactor 13 (TRIP13), transcript variant 1, mRNA. (from RefSeq NM_004237) C9K0T3 D3DTC0 ENST00000166345.1 ENST00000166345.2 ENST00000166345.3 ENST00000166345.4 ENST00000166345.5 ENST00000166345.6 ENST00000166345.7 NM_004237 O15324 PCH2 PCH2_HUMAN Q15645 uc003jbr.1 uc003jbr.2 uc003jbr.3 uc003jbr.4 uc003jbr.5 This gene encodes a protein that interacts with thyroid hormone receptors, also known as hormone-dependent transcription factors. The gene product interacts specifically with the ligand binding domain. This gene is one of several that may play a role in early-stage non-small cell lung cancer. [provided by RefSeq, Oct 2009]. Plays a key role in chromosome recombination and chromosome structure development during meiosis. Required at early steps in meiotic recombination that leads to non-crossovers pathways. Also needed for efficient completion of homologous synapsis by influencing crossover distribution along the chromosomes affecting both crossovers and non-crossovers pathways. Also required for development of higher-order chromosome structures and is needed for synaptonemal-complex formation. In males, required for efficient synapsis of the sex chromosomes and for sex body formation. Promotes early steps of the DNA double- strand breaks (DSBs) repair process upstream of the assembly of RAD51 complexes. Required for depletion of HORMAD1 and HORMAD2 from synapsed chromosomes (By similarity). Specifically interacts with the ligand binding domain of the thyroid receptor (TR). This interaction does not require the presence of thyroid hormone for its interaction. Interacts with HPV16 E1. Q969Q4:ARL11; NbExp=3; IntAct=EBI-358993, EBI-751892; Q9H0W9:C11orf54; NbExp=3; IntAct=EBI-358993, EBI-740204; Q9BWC7:COMT; NbExp=3; IntAct=EBI-358993, EBI-743305; O95865:DDAH2; NbExp=3; IntAct=EBI-358993, EBI-749139; Q8IVS8:GLYCTK; NbExp=3; IntAct=EBI-358993, EBI-748515; Q9BSH5:HDHD3; NbExp=3; IntAct=EBI-358993, EBI-745201; Q6P9B6:KIAA1609; NbExp=3; IntAct=EBI-358993, EBI-746504; Q14847:LASP1; NbExp=3; IntAct=EBI-358993, EBI-742828; Q96JB6:LOXL4; NbExp=3; IntAct=EBI-358993, EBI-749562; Q15013:MAD2L1BP; NbExp=5; IntAct=EBI-358993, EBI-712181; Q9GZT8:NIF3L1; NbExp=3; IntAct=EBI-358993, EBI-740897; O60260:PARK2; NbExp=3; IntAct=EBI-358993, EBI-716346; P67775:PPP2CA; NbExp=3; IntAct=EBI-358993, EBI-712311; Q96HA8:WDYHV1; NbExp=3; IntAct=EBI-358993, EBI-741158; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q15645-1; Sequence=Displayed; Name=2; IsoId=Q15645-2; Sequence=VSP_016957; Note=No experimental confirmation available; Belongs to the AAA ATPase family. PCH2 subfamily. Sequence=AAC41732.1; Type=Frameshift; Positions=1, 5; nucleotide binding oocyte maturation male germ cell nucleus transcription cofactor activity protein binding ATP binding nucleus chromosome double-strand break repair transcription from RNA polymerase II promoter mitotic spindle assembly checkpoint synaptonemal complex assembly reciprocal meiotic recombination male meiosis I female meiosis I spermatogenesis spermatid development cell differentiation identical protein binding oogenesis meiotic cell cycle meiotic recombination checkpoint regulation of nucleic acid-templated transcription uc003jbr.1 uc003jbr.2 uc003jbr.3 uc003jbr.4 uc003jbr.5 
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 
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 
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 
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 
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 
ENST00000174653.3 AP3M2 ENST00000174653.3 Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. (from UniProt P53677) AP3M2_HUMAN B2RCR0 D3DSY2 ENST00000174653.1 ENST00000174653.2 LP895590 P53677 uc064mjc.1 Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. AP-3 associates with the BLOC-1 complex (By similarity). Adaptor protein complex 3 (AP-3) is an heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2). Golgi apparatus. Belongs to the adaptor complexes medium subunit family. Contains 1 MHD (mu homology) domain. Golgi apparatus intracellular protein transport anterograde axonal transport protein transport membrane vesicle-mediated transport AP-type membrane coat adaptor complex clathrin adaptor complex cytoplasmic vesicle membrane cytoplasmic vesicle anterograde synaptic vesicle transport axon cytoplasm uc064mjc.1 
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 
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 
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 
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 
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 
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 
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 UHRF1BP1 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 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 HSPB11 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 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 
ENST00000194900.8 DLG3 ENST00000194900.8 Contains 1 SH3 domain. (from UniProt Q5JUW8) AB033058 ENST00000194900.1 ENST00000194900.2 ENST00000194900.3 ENST00000194900.4 ENST00000194900.5 ENST00000194900.6 ENST00000194900.7 Q5JUW8 Q5JUW8_HUMAN RP11-291O7.3-003 hCG_15353 uc064zss.1 Contains 1 SH3 domain. Contains 3 PDZ (DHR) domains. uc064zss.1 
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 
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 
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 
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 
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 
ENST00000201015.8 PTHLH ENST00000201015.8 Homo sapiens parathyroid hormone like hormone (PTHLH), transcript variant 2, mRNA. (from RefSeq NM_002820) ENST00000201015.1 ENST00000201015.2 ENST00000201015.3 ENST00000201015.4 ENST00000201015.5 ENST00000201015.6 ENST00000201015.7 NM_002820 Q53XY9 Q53XY9_HUMAN hCG_37265 uc001rin.1 uc001rin.2 uc001rin.3 uc001rin.4 The protein encoded by this gene is a member of the parathyroid hormone family. This hormone, via its receptor, PTHR1, regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. It is responsible for most cases of humoral hypercalcemia of malignancy, and mutations in this gene are associated with brachydactyly type E2 (BDE2). Alternatively spliced transcript variants have been found for this gene. There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, downstream of the initiator AUG codon, resulting in nuclear forms of this hormone. [provided by RefSeq, Nov 2013]. hormone activity extracellular region nucleoplasm Golgi apparatus cytosol signal transduction bone mineralization uc001rin.1 uc001rin.2 uc001rin.3 uc001rin.4 
ENST00000201031.3 TFAP2C ENST00000201031.3 Homo sapiens transcription factor AP-2 gamma (TFAP2C), mRNA. (from RefSeq NM_003222) AP2C_HUMAN ENST00000201031.1 ENST00000201031.2 NM_003222 O00685 O00730 Q86V30 Q8IVB6 Q92754 Q9P1X2 uc002xya.1 uc002xya.2 uc002xya.3 uc002xya.4 uc002xya.5 The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. The encoded protein can act as either a homodimer or heterodimer with other family members and is induced during retinoic acid-mediated differentiation. It plays a role in the development of the eyes, face, body wall, limbs, and neural tube. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC051829.1, U85658.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000201031.3/ ENSP00000201031.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members (By similarity). Interacts with WWOX. Interacts with CITED4. Interacts with UBE2I. Interacts with KCTD1; this interaction represses transcription activation. Interacts with CITED2 (via C-terminus); the interaction stimulates TFAP2B-transcriptional activity. Q99967:CITED2; NbExp=2; IntAct=EBI-937309, EBI-937732; P63279:UBE2I; NbExp=3; IntAct=EBI-937309, EBI-80168; Nucleus (Probable). During retinoic acid-mediated differentiation. The WW-binding motif mediates interaction with WWOX. Sumoylated on Lys-10; which inhibits transcriptional activity. Belongs to the AP-2 family. Name=Wikipedia; Note=Activatin protein 2 entry; URL="http://en.wikipedia.org/wiki/Activating_protein_2"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm mitochondrion cytosol regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter cell-cell signaling male gonad development regulation of gene expression, epigenetic positive regulation of transcription from RNA polymerase II promoter protein dimerization activity uc002xya.1 uc002xya.2 uc002xya.3 uc002xya.4 uc002xya.5 
ENST00000201586.7 SULT2B1 ENST00000201586.7 Homo sapiens sulfotransferase family 2B member 1 (SULT2B1), transcript variant 2, mRNA. (from RefSeq NM_177973) ENST00000201586.1 ENST00000201586.2 ENST00000201586.3 ENST00000201586.4 ENST00000201586.5 ENST00000201586.6 HSST2 NM_177973 O00204 O00205 O75814 ST2B1_HUMAN uc002pjl.1 uc002pjl.2 uc002pjl.3 uc002pjl.4 uc002pjl.5 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene sulfates dehydroepiandrosterone but not 4-nitrophenol, a typical substrate for the phenol and estrogen sulfotransferase subfamilies. Two alternatively spliced variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]. Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs and xenobiotic compounds. Sulfonation increases the water solubility of most compounds, and therefore their renal excretion, but it can also result in bioactivation to form active metabolites. Sulfates hydroxysteroids like DHEA. Isoform 1 preferentially sulfonates cholesterol, and isoform 2 avidly sulfonates pregnenolone but not cholesterol. 3'-phosphoadenylyl sulfate + an alcohol = adenosine 3',5'-bisphosphate + an alkyl sulfate. Kinetic parameters: KM=10.9 uM for DHEA (at 37 degrees Celsius, in the presence of 1mM MgCl2); KM=3.8 uM for DHEA (at 37 degrees Celsius, in the presence of 10mM MgCl2); KM=11.8 uM for pregnenolone (at 37 degrees Celsius, in the presence of 1mM MgCl2); KM=0.6 uM for PAPS (at 37 degrees Celsius, in the presence of 1mM MgCl2); Vmax=1752 pmol/min/mg enzyme toward DHEA (at 37 degrees Celsius, in the presence of 10mM MgCl2); Temperature dependence: Optimum temperature is 37 degrees Celsius. Retains 70% and 20% of activity when incubated at 42 degrees Celsius for 45 and 120 minutes, respectively. Activity is lost after 200 minutes incubation at 42 degrees Celsius; Q8N1B6:-; NbExp=3; IntAct=EBI-749441, EBI-750451; Cytoplasm. Microsome. Nucleus. Note=Phosphorylation of Ser-348 is required for translocation to the nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=SULT2B1b, B; IsoId=O00204-1; Sequence=Displayed; Name=2; Synonyms=SULT2B1a, A; IsoId=O00204-2; Sequence=VSP_012510; Expressed highly in placenta, prostate and trachea and lower expression in the small intestine and lung. Belongs to the sulfotransferase 1 family. sulfate assimilation nucleic acid binding alcohol sulfotransferase activity protein binding nucleus cytoplasm endoplasmic reticulum cytosol lipid metabolic process sulfotransferase activity steroid metabolic process cholesterol metabolic process negative regulation of cell proliferation cholesterol binding transferase activity intracellular membrane-bounded organelle positive regulation of epidermal cell differentiation steroid sulfotransferase activity 3'-phosphoadenosine 5'-phosphosulfate metabolic process extracellular exosome steroid hormone binding uc002pjl.1 uc002pjl.2 uc002pjl.3 uc002pjl.4 uc002pjl.5 
ENST00000201647.11 EPS8L1 ENST00000201647.11 Homo sapiens EPS8 like 1 (EPS8L1), transcript variant 1, mRNA. (from RefSeq NM_133180) DRC3 ENST00000201647.1 ENST00000201647.10 ENST00000201647.2 ENST00000201647.3 ENST00000201647.4 ENST00000201647.5 ENST00000201647.6 ENST00000201647.7 ENST00000201647.8 ENST00000201647.9 EPS8R1 ES8L1_HUMAN NM_133180 PP10566 Q71RE2 Q8NC10 Q8TE68 Q96BB7 Q9BSQ2 Q9GZQ2 Q9NXH0 uc002qis.1 uc002qis.2 uc002qis.3 uc002qis.4 uc002qis.5 uc002qis.6 This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton. Interacts with ABI1. Part of a complex that contains SOS1, ABI1 and EPS8L2. Associates with F-actin. Cytoplasm. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=A; IsoId=Q8TE68-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q8TE68-2; Sequence=VSP_019083, VSP_019085; Name=3; Synonyms=C; IsoId=Q8TE68-3; Sequence=VSP_019084, VSP_019088, VSP_019089; Name=4; IsoId=Q8TE68-4; Sequence=VSP_019082, VSP_019086, VSP_019087, VSP_019088; Detected in placenta. Belongs to the EPS8 family. Contains 1 SH3 domain. Sequence=AAG03038.1; Type=Frameshift; Positions=596; Sequence=AAG03039.1; Type=Erroneous gene model prediction; actin binding protein binding cytoplasm cytosol plasma membrane Rho protein signal transduction ruffle membrane macromolecular complex regulation of Rho protein signal transduction T cell receptor binding cadherin binding extracellular exosome positive regulation of ruffle assembly Rho guanyl-nucleotide exchange factor activity Rac guanyl-nucleotide exchange factor activity uc002qis.1 uc002qis.2 uc002qis.3 uc002qis.4 uc002qis.5 uc002qis.6 
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 
ENST00000202831.7 SLC8B1 ENST00000202831.7 Homo sapiens solute carrier family 8 member B1 (SLC8B1), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_024959) A6NP50 ENST00000202831.1 ENST00000202831.2 ENST00000202831.3 ENST00000202831.4 ENST00000202831.5 ENST00000202831.6 NCKX6 NCKX6_HUMAN NCLX NM_024959 Q4KMS9 Q6J4K1 Q6J4K2 Q9H6I8 SLC24A6 uc001tvc.1 uc001tvc.2 uc001tvc.3 uc001tvc.4 SLC24A6 belongs to a family of potassium-dependent sodium/calcium exchangers that maintain cellular calcium homeostasis through the electrogenic countertransport of 4 sodium ions for 1 calcium ion and 1 potassium ion (Cai and Lytton, 2004 [PubMed 14625281]).[supplied by OMIM, Mar 2008]. Transports Ca(2+) in exchange for either Li(+) or Na(+), explaining how Li(+) catalyzes Ca(2+) exchange. In contrast to other members of the family its function is independent of K(+). Strongly inhibited by zinc. Cell membrane; Multi-pass membrane protein (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6J4K2-1; Sequence=Displayed; Name=2; Synonyms=S-NCLX; IsoId=Q6J4K2-2; Sequence=VSP_016996; Belongs to the sodium/potassium/calcium exchanger family. SLC24A subfamily. Sequence=BAB15271.1; Type=Erroneous initiation; calcium:sodium antiporter activity mitochondrion mitochondrial inner membrane plasma membrane ion transport sodium ion transport calcium ion transport mitochondrial calcium ion transport antiporter activity calcium:cation antiporter activity membrane integral component of membrane mitochondrial crista integral component of mitochondrial membrane sodium ion transmembrane transport sarcolemma glucose homeostasis identical protein binding protein homodimerization activity regulation of insulin secretion response to stimulus regulation of cytosolic calcium ion concentration mitochondrial calcium ion homeostasis transmembrane transport calcium ion transmembrane transport regulation of cardiac muscle cell membrane potential calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential mitochondrial calcium release regulation of lymphocyte chemotaxis regulation of store-operated calcium entry uc001tvc.1 uc001tvc.2 uc001tvc.3 uc001tvc.4 
ENST00000202834.11 TMEM230 ENST00000202834.11 Homo sapiens transmembrane protein 230 (TMEM230), transcript variant 4, mRNA. (from RefSeq NM_001009925) B2RDM8 C20orf30 D3DVZ9 ENST00000202834.1 ENST00000202834.10 ENST00000202834.2 ENST00000202834.3 ENST00000202834.4 ENST00000202834.5 ENST00000202834.6 ENST00000202834.7 ENST00000202834.8 ENST00000202834.9 HSPC274 NM_001009925 Q0VGC8 Q5TDS5 Q96A57 Q96ES2 Q9P0A7 TM230_HUMAN UNQ2432/PRO4992 uc002wlm.1 uc002wlm.2 uc002wlm.3 uc002wlm.4 This gene encodes a multi-pass transmembrane protein that belongs to the TMEM134/TMEM230 protein family. The encoded protein localizes to secretory and recycling vesicle in the neuron and may be involved in synaptic vesicles trafficking and recycling. Mutations in this gene may be linked to familial Parkinson's disease. [provided by RefSeq, Mar 2017]. Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=2; IsoId=Q96A57-1; Sequence=Displayed; Name=1; IsoId=Q96A57-2; Sequence=VSP_018155; Note=Ref.1 (AAF28952) sequence differs from that shown due to several frameshifts; Belongs to the TMEM134/TMEM230 family. endosome early endosome late endosome autophagosome endoplasmic reticulum Golgi apparatus trans-Golgi network synaptic vesicle membrane integral component of membrane cell junction cytoplasmic vesicle synapse synaptic vesicle transport recycling endosome uc002wlm.1 uc002wlm.2 uc002wlm.3 uc002wlm.4 
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 
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 
ENST00000204726.9 GOLGA3 ENST00000204726.9 Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA. (from RefSeq NM_005895) A5PKX6 ENST00000204726.1 ENST00000204726.2 ENST00000204726.3 ENST00000204726.4 ENST00000204726.5 ENST00000204726.6 ENST00000204726.7 ENST00000204726.8 GOGA3_HUMAN NM_005895 O43241 Q08378 Q6P9C7 Q86XW3 Q8TDA9 Q8WZA3 uc001ukz.1 uc001ukz.2 uc001ukz.3 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes a member of the golgin family of proteins which are localized to the Golgi. Its encoded protein has been postulated to play a role in nuclear transport and Golgi apparatus localization. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Feb 2010]. Golgi auto-antigen; probably involved in maintaining Golgi structure. Homodimer. Interacts with GOLGA7. Isoform 1 interacts with GOPC while isoform 3 does not. Cytoplasm. Golgi apparatus, Golgi stack membrane; Peripheral membrane protein. Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=Golgin-160B; IsoId=Q08378-1; Sequence=Displayed; Name=2; IsoId=Q08378-2; Sequence=VSP_007728, VSP_007729; Note=No experimental confirmation available. May be due to an intron retention; Name=3; IsoId=Q08378-4; Sequence=VSP_038000, VSP_038001; Note=No experimental confirmation available; Expressed in all tissues tested. Expressed in liver, testis, lung, heart, salivary gland and kidney. Extended rod-like protein with coiled-coil domains. Cleaved by caspases in apoptotic cells. Sequence=AAA35921.1; Type=Erroneous initiation; Sequence=AAH60826.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAA23661.1; Type=Frameshift; Positions=1378; Golgi membrane protein binding nucleus nucleoplasm nucleolus cytoplasm Golgi apparatus cytosol intra-Golgi vesicle-mediated transport spermatogenesis membrane Golgi transport complex Golgi cisterna membrane cadherin binding extrinsic component of Golgi membrane uc001ukz.1 uc001ukz.2 uc001ukz.3 
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 
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 
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 
ENST00000206474.11 HAUS4 ENST00000206474.11 Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. (from UniProt Q9H6D7) B7WP17 BC001916 C14orf94 D3DS34 ENST00000206474.1 ENST00000206474.10 ENST00000206474.2 ENST00000206474.3 ENST00000206474.4 ENST00000206474.5 ENST00000206474.6 ENST00000206474.7 ENST00000206474.8 ENST00000206474.9 HAUS4_HUMAN Q86T15 Q86T16 Q86U43 Q9H6D7 Q9NX59 uc001wht.1 uc001wht.2 uc001wht.3 uc001wht.4 Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. Component of the HAUS augmin-like complex. The complex interacts with the gamma-tubulin ring complex and this interaction is required for spindle assembly. Cytoplasm, cytoskeleton, centrosome. Cytoplasm, cytoskeleton, spindle. Note=Localizes to interphase centrosomes and to mitotic spindle microtubules. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9H6D7-1; Sequence=Displayed; Name=2; IsoId=Q9H6D7-2; Sequence=VSP_007853; Note=No experimental confirmation available; Name=3; IsoId=Q9H6D7-3; Sequence=VSP_007851; Note=No experimental confirmation available; Name=4; IsoId=Q9H6D7-4; Sequence=VSP_007852; Note=No experimental confirmation available; Belongs to the HAUS4 family. Sequence=CAD62584.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; G2/M transition of mitotic cell cycle molecular_function protein binding cytoplasm centrosome microtubule organizing center spindle cytosol cytoskeleton microtubule cell cycle centrosome cycle regulation of G2/M transition of mitotic cell cycle microtubule minus-end binding spindle assembly cell division HAUS complex ciliary basal body docking uc001wht.1 uc001wht.2 uc001wht.3 uc001wht.4 
ENST00000206513.6 CEBPE ENST00000206513.6 Homo sapiens CCAAT enhancer binding protein epsilon (CEBPE), mRNA. (from RefSeq NM_001805) CEBPE_HUMAN ENST00000206513.1 ENST00000206513.2 ENST00000206513.3 ENST00000206513.4 ENST00000206513.5 NM_001805 Q15744 Q15745 Q8IYI2 Q99803 uc001wiv.1 uc001wiv.2 uc001wiv.3 uc001wiv.4 The protein encoded by this gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC035797.1, U48866.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## C/EBP are DNA-binding proteins that recognize two different motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers. Binds DNA as a dimer and can form stable heterodimers with C/EBP delta. Nucleus. Strongest expression occurs in promyelocyte and late-myeloblast-like cell lines. Phosphorylated. Belongs to the bZIP family. C/EBP subfamily. Contains 1 bZIP (basic-leucine zipper) domain. Sequence=AAC51130.1; Type=Frameshift; Positions=4; Name=CEBPEbase; Note=CEBPE mutation db; URL="http://bioinf.uta.fi/CEBPEbase/"; nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm regulation of transcription, DNA-templated phagocytosis defense response positive regulation of gene expression myeloid cell differentiation macrophage differentiation granulocyte differentiation cytokine biosynthetic process defense response to bacterium protein homodimerization activity positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity cellular response to lipopolysaccharide uc001wiv.1 uc001wiv.2 uc001wiv.3 uc001wiv.4 
ENST00000206542.9 OSGEP ENST00000206542.9 Homo sapiens O-sialoglycoprotein endopeptidase (OSGEP), mRNA. (from RefSeq NM_017807) ENST00000206542.1 ENST00000206542.2 ENST00000206542.3 ENST00000206542.4 ENST00000206542.5 ENST00000206542.6 ENST00000206542.7 ENST00000206542.8 GCPL1 NM_017807 OSGEP_HUMAN Q6IAC3 Q9NPF4 uc001vxf.1 uc001vxf.2 uc001vxf.3 uc001vxf.4 uc001vxf.5 Required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine (By similarity). Widely expressed at low level. Expressed in heart, placenta, liver, kidney, lung, brain, skeletal muscle and pancreas. Belongs to the KAE1 / YgjD family. EKC/KEOPS complex tRNA threonylcarbamoyladenosine modification protein binding nucleus nucleoplasm cytoplasm plasma membrane tRNA processing nuclear speck transferase activity transferase activity, transferring acyl groups transferase activity, transferring acyl groups other than amino-acyl groups metal ion binding N(6)-L-threonylcarbamoyladenine synthase uc001vxf.1 uc001vxf.2 uc001vxf.3 uc001vxf.4 uc001vxf.5 
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 
ENST00000211379.9 BAG6 ENST00000211379.9 Homo sapiens BAG cochaperone 6 (BAG6), transcript variant 3, mRNA. (from RefSeq NM_080703) A2ADJ7 A3KQ42 A3KQ44 A6NGY6 A6PWF7 B0UX84 BAG6_HUMAN BAT3 ENST00000211379.1 ENST00000211379.2 ENST00000211379.3 ENST00000211379.4 ENST00000211379.5 ENST00000211379.6 ENST00000211379.7 ENST00000211379.8 G3 NM_080703 O95874 P46379 Q5HYL9 Q5SQ35 Q5SQ36 Q5SQ37 Q5SQ41 Q5SRP8 Q5SRP9 Q5STC1 Q5STX1 Q5STX3 Q96SA6 Q9BCN4 uc003nvi.1 uc003nvi.2 uc003nvi.3 uc003nvi.4 uc003nvi.5 This gene was first characterized as part of a cluster of genes located within the human major histocompatibility complex class III region. This gene encodes a nuclear protein that is cleaved by caspase 3 and is implicated in the control of apoptosis. In addition, the protein forms a complex with E1A binding protein p300 and is required for the acetylation of p53 in response to DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Chaperone that plays a key role in various processes such as apoptosis, insertion of tail-anchored (TA) membrane proteins to the endoplasmic reticulum membrane and regulation of chromatin. Acts in part by regulating stability of proteins and their degradation by the proteasome. Participates in endoplasmic reticulum stress-induced apoptosis via its interaction with AIFM1/AIF by regulating AIFM1/AIF stability and preventing its degradation. Also required during spermatogenesis for synaptonemal complex assembly via its interaction with HSPA2, by inhibiting polyubiquitination and subsequent proteasomal degradation of HSPA2. Required for selective ubiquitin-mediated degradation of defective nascent chain polypeptides by the proteasome. In this context, may play a role in immuno-proteasomes to generate antigenic peptides via targeted degradation, thereby playing a role in antigen presentation in immune response. Key component of the BAG6/BAT3 complex, a cytosolic multiprotein complex involved in the post-translational delivery of tail-anchored (TA) membrane proteins to the endoplasmic reticulum membrane. TA membrane proteins, also named type II transmembrane proteins, contain a single C-terminal transmembrane region. BAG6/BAT3 acts by facilitating TA membrane proteins capture by ASNA1/TRC40: it is recruited to ribosomes synthesizing membrane proteins, interacts with the transmembrane region of newly released TA proteins and transfers them to ASNA1/TRC40 for targeting to the endoplasmic reticulum membrane. Involved in DNA damage-induced apoptosis: following DNA damage, accumulates in the nucleus and forms a complex with p300/EP300, enhancing p300/EP300-mediated p53/TP53 acetylation leading to increase p53/TP53 transcriptional activity. When nuclear, may also act as a component of some chromatin regulator complex that regulates histone 3 'Lys-4' dimethylation (H3K4me2). Can be released from tumor and dendritic cells in membrane vesicles or exosomes, and engage NCR3 thereby promoting natural killer cell (NK) activation and cytotoxicity. Component of the BAT3 complex, at least composed of BAG6/BAT3, UBL4A and GET3/TRC35. Interacts with AIFM1, CTCFL, HSPA2 and p300/EP300. Interacts with ricin A chain. Interacts with L.pneumophila proteins Lpg2160 and LegU1. Interacts with NCR3. Q7Z434:MAVS; NbExp=2; IntAct=EBI-347552, EBI-995373; Cytoplasm, cytosol. Nucleus. Note=The C- terminal fragment generated by caspase-3 is cytoplasmic. Also found in extracellular vesicular exosomes in some tumor cells. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P46379-1; Sequence=Displayed; Name=2; IsoId=P46379-2; Sequence=VSP_015695; Name=3; IsoId=P46379-3; Sequence=VSP_015695, VSP_030519; Note=No experimental confirmation available; Cleavage by caspase-3 releases a C-terminal peptide that plays a role in ricin-induced apoptosis. In case of infection by L.pneumophila, ubiquitinated by the SCF(LegU1) complex. Contains 1 ubiquitin-like domain. Sequence=AAD18085.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAB63390.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAI18318.2; Type=Erroneous gene model prediction; kidney development immune system process immune response-activating cell surface receptor signaling pathway receptor binding protein binding extracellular region nucleus nucleoplasm cytoplasm cytosol chromatin organization ubiquitin-dependent protein catabolic process apoptotic process synaptonemal complex assembly spermatogenesis brain development proteasomal protein catabolic process membrane internal peptidyl-lysine acetylation natural killer cell activation cell differentiation lung development ER-associated ubiquitin-dependent protein catabolic process Hsp70 protein binding polyubiquitin binding ubiquitin protein ligase binding negative regulation of proteasomal ubiquitin-dependent protein catabolic process regulation of cell proliferation intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator identical protein binding regulation of apoptotic process ribosome binding negative regulation of apoptotic process proteasome-mediated ubiquitin-dependent protein catabolic process intracellular membrane-bounded organelle negative regulation of proteolysis regulation of embryonic development protein stabilization misfolded protein binding intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress extracellular exosome proteasome binding ER-associated misfolded protein catabolic process tail-anchored membrane protein insertion into ER membrane BAT3 complex positive regulation of ERAD pathway maintenance of unfolded protein involved in ERAD pathway protein localization to cytosolic proteasome complex involved in ERAD pathway ubiquitin-specific protease binding uc003nvi.1 uc003nvi.2 uc003nvi.3 uc003nvi.4 uc003nvi.5 
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 
ENST00000211936.10 ZNF184 ENST00000211936.10 Homo sapiens zinc finger protein 184 (ZNF184), transcript variant 3, mRNA. (from RefSeq NM_007149) B2R715 ENST00000211936.1 ENST00000211936.2 ENST00000211936.3 ENST00000211936.4 ENST00000211936.5 ENST00000211936.6 ENST00000211936.7 ENST00000211936.8 ENST00000211936.9 NM_007149 O60792 Q8TBA9 Q99676 ZN184_HUMAN uc003nji.1 uc003nji.2 uc003nji.3 uc003nji.4 The protein encoded by this gene is predicted to be a Kruppel C2H2-type zinc-finger protein family member. Sequence analysis predicts that the protein contains two Kruppel associated box (KRAB) boxes in the N-terminus and highly conserved zinc finger motifs at the C-terminus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]. May be involved in transcriptional regulation. Nucleus (Probable). Predominant expression in testis. Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 19 C2H2-type zinc fingers. Contains 1 KRAB domain. nucleic acid binding DNA binding nucleus regulation of transcription, DNA-templated zinc ion binding metal ion binding uc003nji.1 uc003nji.2 uc003nji.3 uc003nji.4 
ENST00000211998.10 VCL ENST00000211998.10 Homo sapiens vinculin (VCL), transcript variant 1, mRNA. (from RefSeq NM_014000) ENST00000211998.1 ENST00000211998.2 ENST00000211998.3 ENST00000211998.4 ENST00000211998.5 ENST00000211998.6 ENST00000211998.7 ENST00000211998.8 ENST00000211998.9 NM_014000 V9HWK2 uc001jwd.1 uc001jwd.2 uc001jwd.3 uc001jwd.4 uc001jwd.5 uc001jwd.6 Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]. uc001jwd.1 uc001jwd.2 uc001jwd.3 uc001jwd.4 uc001jwd.5 uc001jwd.6 
ENST00000212015.11 SIRT1 ENST00000212015.11 Homo sapiens sirtuin 1 (SIRT1), transcript variant 1, mRNA. (from RefSeq NM_012238) ENST00000212015.1 ENST00000212015.10 ENST00000212015.2 ENST00000212015.3 ENST00000212015.4 ENST00000212015.5 ENST00000212015.6 ENST00000212015.7 ENST00000212015.8 ENST00000212015.9 NM_012238 Q2XNF6 Q5JVQ0 Q96EB6 Q9GZR9 Q9Y6F0 SIR1_HUMAN SIR2L1 uc001jnd.1 uc001jnd.2 uc001jnd.3 uc001jnd.4 This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]. NAD-dependent protein deacetylase that links transcriptional regulation directly to intracellular energetics and participates in the coordination of several separated cellular functions such as cell cycle, response to DNA damage, metobolism, apoptosis and autophagy. Can modulate chromatin function through deacetylation of histones and can promote alterations in the methylation of histones and DNA, leading to transcriptional repression. Deacetylates a broad range of transcription factors and coregulators, thereby regulating target gene expression positively and negatively. Serves as a sensor of the cytosolic ratio of NAD(+)/NADH which is altered by glucose deprivation and metabolic changes associated with caloric restriction. Is essential in skeletal muscle cell differentiation and in response to low nutrients mediates the inhibitory effect on skeletal myoblast differentiation which also involves 5'-AMP-activated protein kinase (AMPK) and nicotinamide phosphoribosyltransferase (NAMPT). Component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes. The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at 'Lys-9' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus. Deacetylates 'Lys-266' of SUV39H1, leading to its activation. Inhibits skeletal muscle differentiation by deacetylating PCAF and MYOD1. Deacetylates H2A and 'Lys-26' of HIST1H1E. Deacetylates 'Lys-16' of histone H4 (in vitro). Involved in NR0B2/SHP corepression function through chromatin remodeling: Recruited to LRH1 target gene promoters by NR0B2/SHP thereby stimulating histone H3 and H4 deacetylation leading to transcriptional repression. Proposed to contribute to genomic integrity via positive regulation of telomere length; however, reports on localization to pericentromeric heterochromatin are conflicting. Proposed to play a role in constitutive heterochromatin (CH) formation and/or maintenance through regulation of the available pool of nuclear SUV39H1. Upon oxidative/metabolic stress decreases SUV39H1 degradation by inhibiting SUV39H1 polyubiquitination by MDM2. This increase in SUV39H1 levels enhances SUV39H1 turnover in CH, which in turn seems to accelerate renewal of the heterochromatin which correlates with greater genomic integrity during stress response. Deacetylates 'Lys-382' of p53/TP53 and impairs its ability to induce transcription-dependent proapoptotic program and modulate cell senescence. Deacetylates TAF1B and thereby represses rDNA transcription by the RNA polymerase I. Deacetylates MYC, promotes the association of MYC with MAX and decreases MYC stability leading to compromised transformational capability. Deacetylates FOXO3 in response to oxidative stress thereby increasing its ability to induce cell cycle arrest and resistance to oxidative stress but inhibiting FOXO3-mediated induction of apoptosis transcriptional activity; also leading to FOXO3 ubiquitination and protesomal degradation. Appears to have a similar effect on MLLT7/FOXO4 in regulation of transcriptional activity and apoptosis. Deacetylates DNMT1; thereby impairs DNMT1 methyltransferase-independent transcription repressor activity, modulates DNMT1 cell cycle regulatory function and DNMT1-mediated gene silencing. Deacetylates RELA/NF-kappa-B p65 thereby inhibiting its transactivating potential and augments apoptosis in response to TNF-alpha. Deacetylates HIF1A, KAT5/TIP60, RB1 and HIC1. Deacetylates FOXO1 resulting in its nuclear retention and enhancement of its transcriptional activity leading to increased gluconeogenesis in liver. Inhibits E2F1 transcriptional activity and apoptotic function, possibly by deacetylation. Involved in HES1- and HEY2-mediated transcriptional repression. In cooperation with MYCN seems to be involved in transcriptional repression of DUSP6/MAPK3 leading to MYCN stabilization by phosphorylation at 'Ser-62'. Deacetylates MEF2D. Required for antagonist-mediated transcription suppression of AR-dependent genes which may be linked to local deacetylation of histone H3. Represses HNF1A- mediated transcription. Required for the repression of ESRRG by CREBZF. Modulates AP-1 transcription factor activity. Deacetylates NR1H3 AND NR1H2 and deacetylation of NR1H3 at 'Lys-434' positively regulates transcription of NR1H3:RXR target genes, promotes NR1H3 proteosomal degradation and results in cholesterol efflux; a promoter clearing mechanism after reach round of transcription is proposed. Involved in lipid metabolism. Implicated in regulation of adipogenesis and fat mobilization in white adipocytes by repression of PPARG which probably involves association with NCOR1 and SMRT/NCOR2. Deacetylates ACSS2 leading to its activation, and HMGCS1. Involved in liver and muscle metabolism. Through deacteylation and activation of PPARGC1A is required to activate fatty acid oxidation in skeletel muscle under low-glucose conditions and is involved in glucose homeostasis. Involved in regulation of PPARA and fatty acid beta-oxidation in liver. Involved in positive regulation of insulin secretion in pancreatic beta cells in response to glucose; the function seems to imply transcriptional repression of UCP2. Proposed to deacetylate IRS2 thereby facilitating its insuline-induced tyrosine phosphorylation. Deacetylates SREBF1 isoform SREBP-1C thereby decreasing its stability and transactivation in lipogenic gene expression. Involved in DNA damage response by repressing genes which are involved in DNA repair, such as XPC and TP73, deacetylating XRCC6/Ku70, and faciliting recruitment of additional factors to sites of damaged DNA, such as SIRT1-deacetylated NBN can recruit ATM to initiate DNA repair and SIRT1-deacetylated XPA interacts with RPA2. Also involved in DNA repair of DNA double- strand breaks by homologous recombination and specifically single- strand annealing independently of XRCC6/Ku70 and NBN. Transcriptional suppression of XPC probably involves an E2F4:RBL2 suppressor complex and protein kinase B (AKT) signaling. Transcriptional suppression of TP73 probably involves E2F4 and PCAF. Deacetylates WRN thereby regulating its helicase and exonuclease activities and regulates WRN nuclear translocation in response to DNA damage. Deacetylates APEX1 at 'Lys-6' and 'Lys-7' and stimulates cellular AP endonuclease activity by promoting the association of APEX1 to XRCC1. Increases p53/TP53-mediated transcription-independent apoptosis by blocking nuclear translocation of cytoplasmic p53/TP53 and probably redirecting it to mitochondria. Deacetylates XRCC6/Ku70 at 'Lys-539' and 'Lys- 542' causing it to sequester BAX away from mitochondria thereby inhibiting stress-induced apoptosis. Is involved in autophagy, presumably by deacetylating ATG5, ATG7 and MAP1LC3B/ATG8. Deacetylates AKT1 which leads to enhanced binding of AKT1 and PDK1 to PIP3 and promotes their activation. Proposed to play role in regulation of STK11/LBK1-dependent AMPK signaling pathways implicated in cellular senescence which seems to involve the regulation of the acetylation status of STK11/LBK1. Can deacetylate STK11/LBK1 and thereby increase its activity, cytoplasmic localization and association with STRAD; however, the relevance of such activity in normal cells is unclear. In endothelial cells is shown to inhibit STK11/LBK1 activity and to promote its degradation. Deacetylates SMAD7 at 'Lys-64' and 'Lys- 70' thereby promoting its degradation. Deacetylates CIITA and augments its MHC class II transacivation and contributes to its stability. Deacteylates MECOM/EVI1. Isoform 2 is shown to deacetylate 'Lys-382' of p53/TP53, however with lower activity than isoform 1. In combination, the two isoforms exert an additive effect. Isoform 2 regulates p53/TP53 expression and cellular stress response and is in turn repressed by p53/TP53 presenting a SIRT1 isoform-dependent auto-regulatory loop. In case of HIV-1 infection, interacts with and deacetylates the viral Tat protein. The viral Tat protein inhibits SIRT1 deacetylation activity toward RELA/NF-kappa-B p65, thereby potentiates its transcriptional activity and SIRT1 is proposed to contribute to T-cell hyperactivation during infection. SirtT1 75 kDa fragment: catalytically inactive 75SirT1 may be involved in regulation of apoptosis. May be involved in protecting chondrocytes from apoptotic death by associating with cytochrome C and interfering with apoptosome assembly. NAD(+) + an acetylprotein = nicotinamide + O- acetyl-ADP-ribose + a protein. Binds 1 zinc ion per subunit (By similarity). Inhibited by nicotinamide. Activated by resveratrol (3,5,4'-trihydroxy-trans-stilbene), butein (3,4,2',4'- tetrahydroxychalcone), piceatannol (3,5,3',4'-tetrahydroxy-trans- stilbene), Isoliquiritigenin (4,2',4'-trihydroxychalcone), fisetin (3,7,3',4'-tetrahydroxyflavone) and quercetin (3,5,7,3',4'- pentahydroxyflavone). MAPK8/JNK1 and RPS19BP1/AROS act as positive regulators of deacetylation activity. Negatively regulated by KIAA1967/DBC1. Found in a complex with PCAF and MYOD1. Interacts with FOXO1; the interaction deacetylates FOXO1, resulting in its nuclear retention and promotion of its transcriptional activity Component of the eNoSC complex, composed of SIRT1, SUV39H1 and RRP8. Interacts with HES1, HEY2 and PML. Interacts with RPS19BP1/AROS. Interacts with KIAA1967/DBC1 (via N-terminus); the interaction disrupts the interaction between SIRT1 and p53/TP53. Interacts with SETD7; the interaction induces the dissociation of SIRT1 from p53/TP53 and increases p53/TP53 activity. Interacts with MYCN, NR1I2, CREBZF, TSC2, TLE1, FOS, JUN, NR0B2, PPARG, NCOR, IRS1, IRS2 and NMNAT1. Interacts with HNF1A; the interaction occurs under nutrient restriction. Interacts with SUZ12; the interaction mediates the association with the PRC4 histone methylation complex which is specific as an association with PCR2 and PCR3 complex variants is not found. Interacts with HIV-1 tat. Q13085:ACACA; NbExp=3; IntAct=EBI-1802965, EBI-717681; P31749:AKT1; NbExp=5; IntAct=EBI-1802965, EBI-296087; P27695:APEX1; NbExp=6; IntAct=EBI-1802965, EBI-1048805; P33076:CIITA; NbExp=4; IntAct=EBI-1802965, EBI-1538819; Q9NS37:CREBZF; NbExp=3; IntAct=EBI-1802965, EBI-632965; P68400:CSNK2A1; NbExp=2; IntAct=EBI-1802965, EBI-347804; P26358:DNMT1; NbExp=11; IntAct=EBI-1802965, EBI-719459; Q01094:E2F1; NbExp=3; IntAct=EBI-1802965, EBI-448924; Q09472:EP300; NbExp=2; IntAct=EBI-1802965, EBI-447295; Q14192:FHL2; NbExp=2; IntAct=EBI-1802965, EBI-701903; Q12778:FOXO1; NbExp=3; IntAct=EBI-1802965, EBI-1108782; Q9R1E0:Foxo1 (xeno); NbExp=2; IntAct=EBI-1802965, EBI-1371343; O43524:FOXO3; NbExp=5; IntAct=EBI-1802965, EBI-1644164; P98177:FOXO4; NbExp=3; IntAct=EBI-1802965, EBI-4481939; P51610:HCFC1; NbExp=2; IntAct=EBI-1802965, EBI-396176; Q14469:HES1; NbExp=4; IntAct=EBI-1802965, EBI-2832522; Q9UBP5:HEY2; NbExp=3; IntAct=EBI-1802965, EBI-750630; Q9Y4H2:IRS2; NbExp=2; IntAct=EBI-1802965, EBI-1049582; Q92831:KAT2B; NbExp=3; IntAct=EBI-1802965, EBI-477430; Q8N163:KIAA1967; NbExp=9; IntAct=EBI-1802965, EBI-355410; Q03112:MECOM; NbExp=2; IntAct=EBI-1802965, EBI-1384862; P42345:MTOR; NbExp=2; IntAct=EBI-1802965, EBI-359260; P01106:MYC; NbExp=4; IntAct=EBI-1802965, EBI-447544; P04198:MYCN; NbExp=3; IntAct=EBI-1802965, EBI-878369; O60934:NBN; NbExp=5; IntAct=EBI-1802965, EBI-494844; Q60974:Ncor1 (xeno); NbExp=2; IntAct=EBI-1802965, EBI-349004; Q02577:NHLH2; NbExp=2; IntAct=EBI-1802965, EBI-5378683; Q9HAN9:NMNAT1; NbExp=3; IntAct=EBI-1802965, EBI-3917542; Q15466:NR0B2; NbExp=6; IntAct=EBI-1802965, EBI-3910729; Q60644:Nr1h2 (xeno); NbExp=2; IntAct=EBI-1802965, EBI-5276809; Q9Z0Y9:Nr1h3 (xeno); NbExp=2; IntAct=EBI-1802965, EBI-5276764; P27986:PIK3R1; NbExp=3; IntAct=EBI-1802965, EBI-79464; P10276:RARA; NbExp=3; IntAct=EBI-1802965, EBI-413374; Q04206:RELA; NbExp=4; IntAct=EBI-1802965, EBI-73886; Q86WX3:RPS19BP1; NbExp=9; IntAct=EBI-1802965, EBI-4479407; Q8N122:RPTOR; NbExp=3; IntAct=EBI-1802965, EBI-1567928; O43159:RRP8; NbExp=3; IntAct=EBI-1802965, EBI-2008793; Q13573:SNW1; NbExp=7; IntAct=EBI-1802965, EBI-632715; P36956-3:SREBF1; NbExp=2; IntAct=EBI-1802965, EBI-948338; O54864:Suv39h1 (xeno); NbExp=4; IntAct=EBI-1802965, EBI-302230; P04608:tat (xeno); NbExp=3; IntAct=EBI-1802965, EBI-6164389; Q04724:TLE1; NbExp=4; IntAct=EBI-1802965, EBI-711424; P04637:TP53; NbExp=13; IntAct=EBI-1802965, EBI-366083; O15350:TP73; NbExp=4; IntAct=EBI-1802965, EBI-389606; P49815:TSC2; NbExp=2; IntAct=EBI-1802965, EBI-396587; Q14191:WRN; NbExp=9; IntAct=EBI-1802965, EBI-368417; P23025:XPA; NbExp=8; IntAct=EBI-1802965, EBI-295222; P12956:XRCC6; NbExp=7; IntAct=EBI-1802965, EBI-353208; Nucleus, PML body. Cytoplasm. Note=Recruited to the nuclear bodies via its interaction with PML. Colocalized with APEX1 in the nucleus. May be found in nucleolus, nuclear euchromatin, heterochromatin and inner membrane. Shuttles between nucleus and cytoplasm. SirtT1 75 kDa fragment: Cytoplasm. Mitochondrion. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96EB6-1; Sequence=Displayed; Name=2; Synonyms=delta-exon8; IsoId=Q96EB6-2; Sequence=VSP_042189; Widely expressed. Up-regulated by methyl methanesulfonate (MMS). In H293T cells by presence of rat calorie restriction (CR) serum. Methylated on multiple lysine residues; methylation is enhanced after DNA damage and is dispensable for deacetylase activity toward p53/TP53. Phosphorylated. Phosphorylated by STK4/MST1, resulting in inhibition of SIRT1-mediated p53/TP53 deacetylation. Phosphorylation by MAPK8/JNK1 at Ser-27, Ser-47, and Thr-530 leads to increased nuclear localization and enzymatic activity. Phosphorylation at Thr-530 by DYRK1A and DYRK3 acivates deacetylase activity and promotes cell survival. Phosphorylation by mammalian target of rapamycin complex 1 (mTORC1) at Ser-47 inhibits deacetylation activity. Phosphorylated by CaMK2, leading to increased p53/TP53 and NF-kappa-B p65/RELA deacetylation activity (By similarity). Phosphorylation at Ser-27 implicating MAPK9 is linked to protein stability. There is some ambiguity for some phosphosites: Ser-159/Ser-162 and Thr-544/Ser-545. Proteolytically cleaved by cathepsin B upon TNF-alpha treatment to yield catalytic inactive but stable SirtT1 75 kDa fragment (75SirT1). S-nitrosylated by GAPDH, leading to inhibit the NAD-dependent protein deacetylase activity (By similarity). Red wine, which contains resveratrol, may participate in activation of sirtuin proteins, and may therefore participate in an extended lifespan as it has been observed in yeast. Calf histone H1 is used as substrate in the in vitro deacetylation assay (PubMed:15469825). As, in vivo, interaction occurs between SIRT1 with HIST1H1E, deacetylation has been validated only for HIST1H1E. The reported ADP-ribosyltransferase activity of sirtuins is likely some inefficient side reaction of the deacetylase activity and may not be physiologically relevant (PubMed:19220062). Belongs to the sirtuin family. Class I subfamily. Contains 1 deacetylase sirtuin-type domain. Sequence=AAH12499.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/sirt1/"; single strand break repair negative regulation of transcription from RNA polymerase II promoter chromatin silencing at rDNA pyrimidine dimer repair by nucleotide-excision repair DNA synthesis involved in DNA repair chromatin nuclear chromatin RNA polymerase II distal enhancer sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding angiogenesis ovulation from ovarian follicle cellular glucose homeostasis positive regulation of protein phosphorylation positive regulation of endothelial cell proliferation p53 binding positive regulation of adaptive immune response transcription corepressor activity histone deacetylase activity protein binding nucleus nuclear envelope nuclear inner membrane nucleoplasm chromatin silencing complex nuclear euchromatin nuclear heterochromatin nucleolus cytoplasm mitochondrion cytosol chromatin organization establishment of chromatin silencing maintenance of chromatin silencing methylation-dependent chromatin silencing rRNA processing protein deacetylation triglyceride mobilization apoptotic process cellular response to DNA damage stimulus response to oxidative stress transforming growth factor beta receptor signaling pathway multicellular organism development spermatogenesis regulation of mitotic cell cycle muscle organ development cell aging circadian rhythm protein C-terminus binding transcription factor binding positive regulation of cell proliferation intrinsic apoptotic signaling pathway in response to DNA damage cellular response to starvation negative regulation of gene expression positive regulation of cholesterol efflux regulation of lipid storage regulation of glucose metabolic process macrophage cytokine production positive regulation of phosphatidylinositol 3-kinase signaling viral process positive regulation of macroautophagy protein ubiquitination histone deacetylation PML body hydrolase activity NAD-dependent histone deacetylase activity peptidyl-lysine acetylation deacetylase activity enzyme binding protein domain specific binding cell differentiation macrophage differentiation negative regulation of cell growth negative regulation of transforming growth factor beta receptor signaling pathway negative regulation of prostaglandin biosynthetic process protein destabilization positive regulation of chromatin silencing negative regulation of TOR signaling regulation of endodeoxyribonuclease activity negative regulation of NF-kappaB transcription factor activity response to insulin circadian regulation of gene expression leptin-mediated signaling pathway rDNA heterochromatin protein deacetylase activity regulation of smooth muscle cell apoptotic process NAD-dependent protein deacetylase activity peptidyl-lysine deacetylation nuclear hormone receptor binding cellular triglyceride homeostasis regulation of peroxisome proliferator activated receptor signaling pathway regulation of cell proliferation negative regulation of phosphorylation histone binding response to hydrogen peroxide behavioral response to starvation cholesterol homeostasis intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator identical protein binding regulation of apoptotic process positive regulation of apoptotic process negative regulation of apoptotic process negative regulation of I-kappaB kinase/NF-kappaB signaling proteasome-mediated ubiquitin-dependent protein catabolic process positive regulation of cysteine-type endopeptidase activity involved in apoptotic process HLH domain binding bHLH transcription factor binding negative regulation of sequence-specific DNA binding transcription factor activity negative regulation of DNA damage response, signal transduction by p53 class mediator positive regulation of blood vessel endothelial cell migration response to leptin positive regulation of MHC class II biosynthetic process negative regulation of fat cell differentiation positive regulation of gluconeogenesis positive regulation of DNA repair positive regulation of angiogenesis negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter positive regulation of insulin receptor signaling pathway metal ion binding NAD-dependent histone deacetylase activity (H3-K9 specific) rhythmic process white fat cell differentiation mitogen-activated protein kinase binding negative regulation of helicase activity positive regulation of smooth muscle cell differentiation positive regulation of histone H3-K9 methylation negative regulation of protein kinase B signaling fatty acid homeostasis negative regulation of androgen receptor signaling pathway histone H3-K9 modification cellular response to hydrogen peroxide NAD+ binding regulation of bile acid biosynthetic process UV-damage excision repair histone H3 deacetylation cellular response to tumor necrosis factor negative regulation of histone H3-K14 acetylation cellular response to hypoxia cellular response to ionizing radiation regulation of protein serine/threonine kinase activity regulation of brown fat cell differentiation stress-induced premature senescence regulation of cellular response to heat negative regulation of histone H3-K9 trimethylation negative regulation of neuron death negative regulation of protein acetylation negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway positive regulation of adipose tissue development keratin filament binding histone H3-K9 deacetylation cellular response to leukemia inhibitory factor positive regulation of macrophage apoptotic process negative regulation of cAMP-dependent protein kinase activity positive regulation of cAMP-dependent protein kinase activity negative regulation of histone H4-K16 acetylation negative regulation of cellular response to testosterone stimulus negative regulation of peptidyl-lysine acetylation negative regulation of cellular senescence positive regulation of cellular senescence ESC/E(Z) complex NAD+ ADP-ribosyltransferase activity protein ADP-ribosylation uc001jnd.1 uc001jnd.2 uc001jnd.3 uc001jnd.4 
ENST00000212355.9 TGFBR3 ENST00000212355.9 Homo sapiens transforming growth factor beta receptor 3 (TGFBR3), transcript variant 4, non-coding RNA. (from RefSeq NR_036634) A0AUW8 A8K5N0 B9EG88 ENST00000212355.1 ENST00000212355.2 ENST00000212355.3 ENST00000212355.4 ENST00000212355.5 ENST00000212355.6 ENST00000212355.7 ENST00000212355.8 NR_036634 Q03167 Q5T2T4 Q5U731 Q9UGI2 TGBR3_HUMAN uc001doh.1 uc001doh.2 uc001doh.3 uc001doh.4 uc001doh.5 This locus encodes the transforming growth factor (TGF)-beta type III receptor. The encoded receptor is a membrane proteoglycan that often functions as a co-receptor with other TGF-beta receptor superfamily members. Ectodomain shedding produces soluble TGFBR3, which may inhibit TGFB signaling. Decreased expression of this receptor has been observed in various cancers. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.[provided by RefSeq, Sep 2010]. Binds to TGF-beta. Could be involved in capturing and retaining TGF-beta for presentation to the signaling receptors. Interacts with TCTEX1D4. P01137:TGFB1; NbExp=2; IntAct=EBI-2852679, EBI-779636; Secreted. Secreted, extracellular space. Cell membrane; Single-pass type I membrane protein (Potential). Note=Exists both as a membrane-bound form and as soluble form in serum and in the extracellular matrix. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q03167-1; Sequence=Displayed; Name=2; IsoId=Q03167-2; Sequence=VSP_040018; Extensively modified by glycosaminoglycan groups (GAG). Contains 1 ZP domain. Sequence=AAA67061.1; Type=Frameshift; Positions=70, 73, 349, 350; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TGFBR3ID42541ch1p33.html"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/tgfbr3/"; response to hypoxia epithelial to mesenchymal transition liver development heart morphogenesis muscular septum morphogenesis outflow tract morphogenesis ventricular compact myocardium morphogenesis transforming growth factor beta-activated receptor activity type II transforming growth factor beta receptor binding transforming growth factor beta receptor binding protein binding glycosaminoglycan binding extracellular region extracellular space cytoplasm plasma membrane integral component of plasma membrane immune response transforming growth factor beta receptor signaling pathway transforming growth factor beta receptor complex assembly heparin binding external side of plasma membrane cell surface coreceptor activity membrane integral component of membrane cell migration fibroblast growth factor binding PDZ domain binding BMP signaling pathway positive regulation of transforming growth factor beta receptor signaling pathway negative regulation of transforming growth factor beta receptor signaling pathway extracellular matrix animal organ regeneration response to follicle-stimulating hormone inhibin-betaglycan-ActRII complex response to prostaglandin E response to luteinizing hormone intracellular signal transduction receptor complex regulation of protein binding SMAD binding activin binding transforming growth factor beta binding negative regulation of epithelial cell proliferation negative regulation of cellular component movement ventricular cardiac muscle tissue morphogenesis cardiac muscle cell proliferation positive regulation of cardiac muscle cell proliferation definitive hemopoiesis cardiac epithelial to mesenchymal transition definitive erythrocyte differentiation heart trabecula formation pathway-restricted SMAD protein phosphorylation ventricular septum morphogenesis epicardium-derived cardiac fibroblast cell development vasculogenesis involved in coronary vascular morphogenesis heart trabecula morphogenesis macromolecular complex assembly extracellular exosome transforming growth factor beta receptor activity, type III regulation of JNK cascade regulation of ERK1 and ERK2 cascade uc001doh.1 uc001doh.2 uc001doh.3 uc001doh.4 uc001doh.5 
ENST00000214869.7 TMED1 ENST00000214869.7 Homo sapiens transmembrane p24 trafficking protein 1 (TMED1), transcript variant 1, mRNA. (from RefSeq NM_006858) ENST00000214869.1 ENST00000214869.2 ENST00000214869.3 ENST00000214869.4 ENST00000214869.5 ENST00000214869.6 IL1RL1L IL1RL1LG NM_006858 Q13445 TMED1_HUMAN uc002mpy.1 uc002mpy.2 uc002mpy.3 uc002mpy.4 uc002mpy.5 uc002mpy.6 This gene belongs to the TMED (transmembrane emp24 domain-containing) protein family, which is involved in the vesicular trafficking of proteins. The protein encoded by this gene was identified by its interaction with interleukin 1 receptor-like 1 (IL1RL1) and may play a role in innate immunity. This protein lacks any similarity to other interleukin 1 ligands. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]. Potential role in vesicular protein trafficking, mainly in the early secretory pathway. May act as a cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and may be involved in vesicle coat formation at the cytoplasmic side. Homodimer in endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment and cis-Golgi network. May interact with IL1RL1. Cell membrane; Single-pass type I membrane protein (Potential). Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus, cis-Golgi network membrane; Single-pass type I membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Single-pass type I membrane protein. Widely expressed. Found only in very low concentrations in the endoplasmic reticulum, Golgi apparatus and endoplasmic reticulum- Golgi intermediate compartment compared to other members of the EMP24/GP25L family. Belongs to the EMP24/GP25L family. Contains 1 GOLD domain. receptor binding protein binding endoplasmic reticulum endoplasmic reticulum membrane endoplasmic reticulum-Golgi intermediate compartment Golgi apparatus plasma membrane intracellular protein transport ER to Golgi vesicle-mediated transport Golgi organization signal transduction cell-cell signaling protein transport membrane integral component of membrane ER to Golgi transport vesicle endoplasmic reticulum-Golgi intermediate compartment membrane uc002mpy.1 uc002mpy.2 uc002mpy.3 uc002mpy.4 uc002mpy.5 uc002mpy.6 
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 
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 
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 
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 
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 
ENST00000216200.9 PVALB ENST00000216200.9 Homo sapiens parvalbumin (PVALB), transcript variant 1, mRNA. (from RefSeq NM_002854) B2R4H7 ENST00000216200.1 ENST00000216200.2 ENST00000216200.3 ENST00000216200.4 ENST00000216200.5 ENST00000216200.6 ENST00000216200.7 ENST00000216200.8 NM_002854 P20472 P78378 PRVA_HUMAN Q4VB78 Q5R3Q9 uc003apx.1 uc003apx.2 uc003apx.3 uc003apx.4 The protein encoded by this gene is a high affinity calcium ion-binding protein that is structurally and functionally similar to calmodulin and troponin C. The encoded protein is thought to be involved in muscle relaxation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]. In muscle, parvalbumin is thought to be involved in relaxation after contraction. It binds two calcium ions. Mass=11927; Mass_error=0.76; Method=Electrospray; Range=2-110; Source=PubMed:10036163; Belongs to the parvalbumin family. Contains 2 EF-hand domains. calcium ion binding nucleus cytoplasm axon stereocilium cuticular plate macromolecular complex protein homodimerization activity neuronal cell body metal ion binding protein heterodimerization activity cochlea development uc003apx.1 uc003apx.2 uc003apx.3 uc003apx.4 
ENST00000216211.9 UPK3A ENST00000216211.9 Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA. (from RefSeq NM_006953) B0QY25 ENST00000216211.1 ENST00000216211.2 ENST00000216211.3 ENST00000216211.4 ENST00000216211.5 ENST00000216211.6 ENST00000216211.7 ENST00000216211.8 NM_006953 O60261 O75631 Q32N05 Q5TII6 UPK3 UPK3A_HUMAN uc003bfy.1 uc003bfy.2 uc003bfy.3 uc003bfy.4 uc003bfy.5 This gene encodes a member of the uroplakin family, a group of transmembrane proteins that form complexes on the apical surface of the bladder epithelium. Mutations in this gene may be associated with renal adysplasia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]. Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in AUM-cytoskeleton interaction in terminally differentiated urothelial cells. It also contributes to the formation of urothelial glycocalyx which may play an important role in preventing bacterial adherence (By similarity). Heterodimer with uroplakin-1B (UPK1B) (By similarity). Endoplasmic reticulum membrane; Single-pass type I membrane protein (By similarity). Note=Heterodimer formation with UPK1B is a prerequisite to exit out of the endoplasmic reticulum (ER) (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75631-1; Sequence=Displayed; Name=2; IsoId=O75631-2; Sequence=VSP_030004; Expressed in ureter. Defects in UPK3A are a cause of renal adysplasia (RADYS) [MIM:191830]; also known as renal agenesis or renal aplasia. Renal agenesis refers to the absence of one (unilateral) or both (bilateral) kidneys at birth. Bilateral renal agenesis belongs to a group of perinatally lethal renal diseases, including severe bilateral renal dysplasia, unilateral renal agenesis with contralateral dysplasia and severe obstructive uropathy. Belongs to the uroplakin-3 family. cell morphogenesis kidney development protein binding endoplasmic reticulum endoplasmic reticulum membrane water transport urea transport membrane integral component of membrane apical plasma membrane epithelial cell differentiation potassium ion homeostasis sodium ion homeostasis urinary bladder development extracellular exosome uc003bfy.1 uc003bfy.2 uc003bfy.3 uc003bfy.4 uc003bfy.5 
ENST00000216214.7 FAM118A ENST00000216214.7 Homo sapiens family with sequence similarity 118 member A (FAM118A), transcript variant 7, non-coding RNA. (from RefSeq NR_146323) B3KWG4 C22orf8 ENST00000216214.1 ENST00000216214.2 ENST00000216214.3 ENST00000216214.4 ENST00000216214.5 ENST00000216214.6 F118A_HUMAN NR_146323 Q5TII5 Q96CY3 Q9NWS6 uc003bfz.1 uc003bfz.2 uc003bfz.3 uc003bfz.4 uc003bfz.5 Membrane; Single-pass membrane protein (Potential). Belongs to the FAM118 family. protein binding membrane integral component of membrane identical protein binding uc003bfz.1 uc003bfz.2 uc003bfz.3 uc003bfz.4 uc003bfz.5 
ENST00000216218.8 ST13 ENST00000216218.8 Homo sapiens ST13 Hsp70 interacting protein (ST13), transcript variant 1, mRNA. (from RefSeq NM_003932) AAG2 ENST00000216218.1 ENST00000216218.2 ENST00000216218.3 ENST00000216218.4 ENST00000216218.5 ENST00000216218.6 ENST00000216218.7 F10A1_HUMAN FAM10A1 HIP NM_003932 O14999 P50502 Q2TU77 SNC6 uc003aze.1 uc003aze.2 uc003aze.3 uc003aze.4 uc003aze.5 uc003aze.6 The protein encoded by this gene is an adaptor protein that mediates the association of the heat shock proteins HSP70 and HSP90. This protein has been shown to be involved in the assembly process of glucocorticoid receptor, which requires the assistance of multiple molecular chaperones. The expression of this gene is reported to be downregulated in colorectal carcinoma tissue suggesting that it is a candidate tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]. One HIP oligomer binds the ATPase domains of at least two HSC70 molecules dependent on activation of the HSC70 ATPase by HSP40. Stabilizes the ADP state of HSC70 that has a high affinity for substrate protein. Through its own chaperone activity, it may contribute to the interaction of HSC70 with various target proteins (By similarity). Homotetramer. Interacts with HSC70 as well as DNAJ homologs and HSP90 (By similarity). Interacts (via the C-terminus 303- 319 AA) with GRK5. P02649:APOE; NbExp=3; IntAct=EBI-357285, EBI-1222467; P29474:NOS3; NbExp=3; IntAct=EBI-357285, EBI-1391623; P49768:PSEN1; NbExp=3; IntAct=EBI-357285, EBI-297277; Cytoplasm (By similarity). Belongs to the FAM10 family. Contains 1 STI1 domain. Contains 3 TPR repeats. protein binding cytoplasm cytosol protein folding response to bacterium protein domain specific binding Hsp70 protein binding protein binding, bridging dATP binding macromolecular complex identical protein binding macromolecular complex binding protein dimerization activity unfolded protein binding chaperone mediated protein folding requiring cofactor chaperone binding protein homooligomerization protein homotetramerization negative regulation of protein refolding extracellular exosome uc003aze.1 uc003aze.2 uc003aze.3 uc003aze.4 uc003aze.5 uc003aze.6 
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 
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 D receptor (VDR), which is required for the ligand-bound VDR- mediated transrepression of the CYP27B1 gene (By similarity). Component of the FACT complex, a stable heterodimer of SSRP1 and SUPT16H. Also component of a CK2-SPT16-SSRP1 complex which forms following UV irradiation, composed of SSRP1, SUPT16H, CSNK2A1, CSNK2A2 and CSNK2B. Component of the WINAC complex, at least composed of SMARCA2, SMARCA4, SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCE1, ACTL6A, BAZ1B/WSTF, ARID1A, SUPT16H, CHAF1A and TOP2B. Interacts with NEK9. Binds to histone H2A-H2B. Interacts with GTF2E2. Nucleus. Chromosome. Note=Colocalizes with RNA polymerase II on chromatin. Recruited to actively transcribed loci. Ubiquitous. The Glu-rich acidic region in C-terminus is essential for FACT activity. ADP-ribosylated. ADP-ribosylation by PARP1 is induced by genotoxic stress and correlates with dissociation of FACT from chromatin. Belongs to the peptidase M24 family. SPT16 subfamily. Although related to the peptidase M24 family, this protein lacks conserved active site residues suggesting that it may lack peptidase activity. Sequence=AAH64561.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH73849.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; RNA binding protein binding nucleus nucleoplasm chromosome DNA replication DNA repair nucleosome disassembly transcription from RNA polymerase II promoter transcription elongation from RNA polymerase II promoter cellular response to DNA damage stimulus nucleosome binding positive regulation of DNA-templated transcription, elongation positive regulation of transcription elongation from RNA polymerase II promoter DNA replication-independent nucleosome organization FACT complex histone binding regulation of signal transduction by p53 class mediator uc001wao.1 uc001wao.2 uc001wao.3 
ENST00000216330.7 FKBP3 ENST00000216330.7 FK506- and rapamycin-binding proteins (FKBPs) constitute a family of receptors for the two immunosuppressants which inhibit T-cell proliferation by arresting two distinct cytoplasmic signal transmission pathways. PPIases accelerate the folding of proteins. (from UniProt Q00688) B2R4Q9 BC016288 ENST00000216330.1 ENST00000216330.2 ENST00000216330.3 ENST00000216330.4 ENST00000216330.5 ENST00000216330.6 FKBP25 FKBP3_HUMAN Q00688 Q14317 uc059bdf.1 FK506- and rapamycin-binding proteins (FKBPs) constitute a family of receptors for the two immunosuppressants which inhibit T-cell proliferation by arresting two distinct cytoplasmic signal transmission pathways. PPIases accelerate the folding of proteins. Peptidylproline (omega=180) = peptidylproline (omega=0). Inhibited preferentially by rapamycin over FK506. Nucleus. Belongs to the FKBP-type PPIase family. Contains 1 PPIase FKBP-type domain. Sequence=AAA58474.1; Type=Frameshift; Positions=197; protein peptidyl-prolyl isomerization RNA binding peptidyl-prolyl cis-trans isomerase activity protein binding FK506 binding nucleus isomerase activity signaling receptor activity uc059bdf.1 
ENST00000216336.3 CTSG ENST00000216336.3 Homo sapiens cathepsin G (CTSG), mRNA. (from RefSeq NM_001911) CATG_HUMAN ENST00000216336.1 ENST00000216336.2 NM_001911 P08311 Q6IBJ6 Q9UCA5 Q9UCU6 uc001wpq.1 uc001wpq.2 uc001wpq.3 uc001wpq.4 uc001wpq.5 The protein encoded by this gene, a member of the peptidase S1 protein family, is found in azurophil granules of neutrophilic polymorphonuclear leukocytes. The encoded protease has a specificity similar to that of chymotrypsin C, and may participate in the killing and digestion of engulfed pathogens, and in connective tissue remodeling at sites of inflammation. In addition, the encoded protein is antimicrobial, with bacteriocidal activity against S. aureus and N. gonorrhoeae. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Sep 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC014460.1, BI833632.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2149004 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216336.3/ ENSP00000216336.2 Protein has antimicrobial activity :: PMID: 2116408 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Serine protease with trypsin- and chymotrypsin-like specificity. Cleaves complement C3. Has antibacterial activity against the Gram-negative bacterium P.aeruginosa, antibacterial activity is inhibited by LPS from P.aeruginosa, Z-Gly-Leu-Phe- CH2Cl and phenylmethylsulfonyl fluoride. Specificity similar to chymotrypsin C. Inhibited by soybean trypsin inhibitor, benzamidine, the synthetic peptide R13K, Z-Gly-Leu-Phe-CH2Cl, phenylmethylsulfonyl fluoride, 3,4-dichloroisocoumarin, DFP, SBTI and alpha-1-antitrypsin. Inhibited by LPS from P.aeruginosa but not by LPS from S.minnesota. Not inhibited by elastinal, CMK, TLCK and ETDA. Kinetic parameters: KM=1.15 mM for Z-Lys-SBzl; KM=0.26 mM for Suc-Ala-Ala-Pro-Phe-SBzl; Cell surface. Belongs to the peptidase S1 family. Contains 1 peptidase S1 domain. angiotensin maturation serine-type endopeptidase activity protein binding extracellular region extracellular space nucleus cytoplasm plasma membrane protein phosphorylation proteolysis immune response heparin binding peptidase activity serine-type peptidase activity cell surface cytoplasmic stress granule hydrolase activity antimicrobial humoral response antibacterial humoral response extracellular matrix disassembly secretory granule response to lipopolysaccharide azurophil granule lumen defense response to bacterium neutrophil degranulation cellular protein metabolic process positive regulation of immune response defense response to Gram-negative bacterium defense response to Gram-positive bacterium defense response to fungus extracellular exosome neutrophil mediated killing of gram-positive bacterium cellular response to lipopolysaccharide uc001wpq.1 uc001wpq.2 uc001wpq.3 uc001wpq.4 uc001wpq.5 
ENST00000216338.9 GZMH ENST00000216338.9 Homo sapiens granzyme H (GZMH), transcript variant 1, mRNA. (from RefSeq NM_033423) CGL2 CTSGL2 ENST00000216338.1 ENST00000216338.2 ENST00000216338.3 ENST00000216338.4 ENST00000216338.5 ENST00000216338.6 ENST00000216338.7 ENST00000216338.8 GRAH_HUMAN NM_033423 P20718 uc001wpr.1 uc001wpr.2 uc001wpr.3 uc001wpr.4 This gene encodes a member of the peptidase S1 family of serine proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a chymotrypsin-like protease. This protein is reported to be constitutively expressed in the NK (natural killer) cells of the immune system and may play a role in the cytotoxic arm of the innate immune response by inducing target cell death and by directly cleaving substrates in pathogen-infected cells. This gene is present in a gene cluster with another member of the granzyme subfamily on chromosome 14. [provided by RefSeq, Nov 2015]. Cytotoxic chymotrypsin-like serine protease with preference for bulky and aromatic residues at the P1 position and acidic residues at the P3' and P4' sites. Probably necessary for target cell lysis in cell-mediated immune responses. Cytoplasmic granule. Note=Cytoplasmic granules of cytolytic T-lymphocytes. Belongs to the peptidase S1 family. Granzyme subfamily. Contains 1 peptidase S1 domain. serine-type endopeptidase activity cytoplasm proteolysis apoptotic process peptidase activity serine-type peptidase activity granzyme-mediated apoptotic signaling pathway membrane hydrolase activity cytolysis uc001wpr.1 uc001wpr.2 uc001wpr.3 uc001wpr.4 
ENST00000216341.9 GZMB ENST00000216341.9 Homo sapiens granzyme B (GZMB), transcript variant 1, mRNA. (from RefSeq NM_004131) CGL1 CSPB CTLA1 ENST00000216341.1 ENST00000216341.2 ENST00000216341.3 ENST00000216341.4 ENST00000216341.5 ENST00000216341.6 ENST00000216341.7 ENST00000216341.8 GRAB_HUMAN GRB NM_004131 P10144 Q8N1D2 Q9UCC1 uc001wps.1 uc001wps.2 uc001wps.3 uc001wps.4 uc001wps.5 This gene encodes a member of the granzyme subfamily of proteins, part of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by natural killer (NK) cells and cytotoxic T lymphocytes (CTLs) and proteolytically processed to generate the active protease, which induces target cell apoptosis. This protein also processes cytokines and degrades extracellular matrix proteins, and these roles are implicated in chronic inflammation and wound healing. Expression of this gene may be elevated in human patients with cardiac fibrosis. [provided by RefSeq, Sep 2016]. This enzyme is necessary for target cell lysis in cell- mediated immune responses. It cleaves after Asp. Seems to be linked to an activation cascade of caspases (aspartate-specific cysteine proteases) responsible for apoptosis execution. Cleaves caspase-3, -7, -9 and 10 to give rise to active enzymes mediating apoptosis. Preferential cleavage: -Asp-|-Xaa- >> -Asn-|- Xaa- > -Met-|-Xaa-, -Ser-|-Xaa-. Inactivated by the serine protease inhibitor diisopropylfluorophosphate. P14222:PRF1; NbExp=3; IntAct=EBI-2505785, EBI-724466; P10124:SRGN; NbExp=2; IntAct=EBI-2505785, EBI-744915; Cytoplasmic granule. Note=Cytoplasmic granules of cytolytic T-lymphocytes and natural killer cells. By staphylococcal enterotoxin A (SEA) in peripheral blood leukocytes. Belongs to the peptidase S1 family. Granzyme subfamily. Contains 1 peptidase S1 domain. immunological synapse serine-type endopeptidase activity protein binding nucleus cytoplasm mitochondrion cytosol proteolysis apoptotic process peptidase activity serine-type peptidase activity granzyme-mediated apoptotic signaling pathway membrane hydrolase activity cytolysis natural killer cell mediated cytotoxicity positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway uc001wps.1 uc001wps.2 uc001wps.3 uc001wps.4 uc001wps.5 
ENST00000216367.10 POLE2 ENST00000216367.10 Homo sapiens DNA polymerase epsilon 2, accessory subunit (POLE2), transcript variant 1, mRNA. (from RefSeq NM_002692) A0AV55 A4FU92 A4LBB7 A6NH58 B4DDE6 DPE2 DPOE2_HUMAN ENST00000216367.1 ENST00000216367.2 ENST00000216367.3 ENST00000216367.4 ENST00000216367.5 ENST00000216367.6 ENST00000216367.7 ENST00000216367.8 ENST00000216367.9 NM_002692 O43560 P56282 uc001wwu.1 uc001wwu.2 uc001wwu.3 uc001wwu.4 uc001wwu.5 DNA polymerase epsilon, which is involved in DNA repair and replication, is composed of a large catalytic subunit and a small accessory subunit. The protein encoded by this gene represents the small subunit (B). Defects in this gene have been linked to colorectal cancer and to combined immunodeficiency. [provided by RefSeq, Jan 2017]. Participates in DNA repair and in chromosomal DNA replication. Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1). Component of the epsilon DNA polymerase complex consisting of four subunits: POLE, POLE2, POLE3 and POLE4. Nucleus. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P56282-1; Sequence=Displayed; Name=2; IsoId=P56282-2; Sequence=VSP_042551; Note=No experimental confirmation available; Name=3; IsoId=P56282-3; Sequence=VSP_043796; In eukaryotes there are five DNA polymerases: alpha, beta, gamma, delta, and epsilon which are responsible for different reactions of DNA synthesis. Belongs to the DNA polymerase epsilon subunit B family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/pole2/"; G1/S transition of mitotic cell cycle DNA binding DNA-directed DNA polymerase activity protein binding nucleus nucleoplasm DNA replication DNA-dependent DNA replication DNA replication initiation DNA repair epsilon DNA polymerase complex nuclear body transferase activity nucleotidyltransferase activity telomere maintenance via semi-conservative replication error-prone translesion synthesis intracellular membrane-bounded organelle uc001wwu.1 uc001wwu.2 uc001wwu.3 uc001wwu.4 uc001wwu.5 
ENST00000216373.10 SOS2 ENST00000216373.10 Homo sapiens SOS Ras/Rho guanine nucleotide exchange factor 2 (SOS2), mRNA. (from RefSeq NM_006939) D3DSB4 ENST00000216373.1 ENST00000216373.2 ENST00000216373.3 ENST00000216373.4 ENST00000216373.5 ENST00000216373.6 ENST00000216373.7 ENST00000216373.8 ENST00000216373.9 NM_006939 Q07890 Q15503 Q17RN1 SOS2_HUMAN uc001wxs.1 uc001wxs.2 uc001wxs.3 uc001wxs.4 uc001wxs.5 uc001wxs.6 This gene encodes a regulatory protein that is involved in the positive regulation of ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.78693.1, SRR1803614.79798.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216373.10/ ENSP00000216373.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Promotes the exchange of Ras-bound GDP by GTP (By similarity). P00519:ABL1; NbExp=2; IntAct=EBI-298181, EBI-375543; P46108:CRK; NbExp=2; IntAct=EBI-298181, EBI-886; P62993:GRB2; NbExp=6; IntAct=EBI-298181, EBI-401755; P16333:NCK1; NbExp=3; IntAct=EBI-298181, EBI-389883; Q9UKS6:PACSIN3; NbExp=2; IntAct=EBI-298181, EBI-77926; P19174:PLCG1; NbExp=4; IntAct=EBI-298181, EBI-79387; Q9Y5X1:SNX9; NbExp=2; IntAct=EBI-298181, EBI-77848; Contains 1 DH (DBL-homology) domain. Contains 1 N-terminal Ras-GEF domain. Contains 1 PH domain. Contains 1 Ras-GEF domain. Name=Wikipedia; Note=Son of sevenless entry; URL="http://en.wikipedia.org/wiki/Son_of_Sevenless"; nucleosome DNA binding guanyl-nucleotide exchange factor activity Rho guanyl-nucleotide exchange factor activity protein binding cytosol G-protein coupled receptor signaling pathway small GTPase mediated signal transduction regulation of Rho protein signal transduction positive regulation of apoptotic process protein heterodimerization activity regulation of small GTPase mediated signal transduction positive regulation of small GTPase mediated signal transduction uc001wxs.1 uc001wxs.2 uc001wxs.3 uc001wxs.4 uc001wxs.5 uc001wxs.6 
ENST00000216392.8 PYGL ENST00000216392.8 Homo sapiens glycogen phosphorylase L (PYGL), transcript variant 1, mRNA. (from RefSeq NM_002863) A6NDQ4 ENST00000216392.1 ENST00000216392.2 ENST00000216392.3 ENST00000216392.4 ENST00000216392.5 ENST00000216392.6 ENST00000216392.7 NM_002863 O60567 O60752 O60913 P06737 PYGL_HUMAN Q501V9 Q641R5 Q96G82 uc001wyu.1 uc001wyu.2 uc001wyu.3 uc001wyu.4 uc001wyu.5 This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]. Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties. (1,4-alpha-D-glucosyl)(n) + phosphate = (1,4- alpha-D-glucosyl)(n-1) + alpha-D-glucose 1-phosphate. Pyridoxal phosphate. Activity of phosphorylase is controlled both by allosteric means (through the noncovalent binding of metabolites) and by covalent modification. Thus AMP allosterically activates, whereas ATP, ADP, and glucose-6-phosphate allosterically inhibit, phosphorylase B. Homodimer. Dimers associate into a tetramer to form the enzymatically active phosphorylase A. Interacts with PPP1R3B (By similarity). Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A. Defects in PYGL are the cause of glycogen storage disease type 6 (GSD6) [MIM:232700]. A metabolic disorder characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly. Heart and skeletal muscle are not affected. Belongs to the glycogen phosphorylase family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PYGL"; nucleotide binding purine nucleobase binding catalytic activity phosphorylase activity protein binding ATP binding glucose binding extracellular region cytoplasm cytosol carbohydrate metabolic process glycogen metabolic process glycogen catabolic process 5-phosphoribose 1-diphosphate biosynthetic process drug binding metabolic process glycogen phosphorylase activity response to bacterium AMP binding transferase activity transferase activity, transferring glycosyl groups vitamin binding pyridoxal phosphate binding carbohydrate binding bile acid binding secretory granule lumen glucose homeostasis protein homodimerization activity neutrophil degranulation extracellular exosome necroptotic process ficolin-1-rich granule lumen uc001wyu.1 uc001wyu.2 uc001wyu.3 uc001wyu.4 uc001wyu.5 
ENST00000216410.8 GNPNAT1 ENST00000216410.8 Homo sapiens glucosamine-phosphate N-acetyltransferase 1 (GNPNAT1), mRNA. (from RefSeq NM_198066) ENST00000216410.1 ENST00000216410.2 ENST00000216410.3 ENST00000216410.4 ENST00000216410.5 ENST00000216410.6 ENST00000216410.7 GNA1 GNA1_HUMAN NM_198066 Q96EK6 uc001xab.1 uc001xab.2 uc001xab.3 uc001xab.4 uc001xab.5 Acetyl-CoA + D-glucosamine 6-phosphate = CoA + N-acetyl-D-glucosamine 6-phosphate. Kinetic parameters: KM=26 uM for acetyl-coenzyme A; KM=97 uM for glucosamine-6-phosphate; Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D- glucosamine biosynthesis; N-acetyl-alpha-D-glucosamine 1-phosphate from alpha-D-glucosamine 6-phosphate (route I): step 1/2. Homodimer. Golgi apparatus membrane; Peripheral membrane protein. Endosome membrane; Peripheral membrane protein (By similarity). Belongs to the acetyltransferase family. GNA1 subfamily. Contains 1 N-acetyltransferase domain. Golgi membrane liver development glucosamine 6-phosphate N-acetyltransferase activity endosome late endosome endoplasmic reticulum endoplasmic reticulum-Golgi intermediate compartment Golgi apparatus cytosol glucosamine metabolic process N-acetylglucosamine metabolic process UDP-N-acetylglucosamine biosynthetic process N-acetyltransferase activity endosome membrane membrane transferase activity transferase activity, transferring acyl groups identical protein binding monosaccharide binding cellular response to leukemia inhibitory factor uc001xab.1 uc001xab.2 uc001xab.3 uc001xab.4 uc001xab.5 
ENST00000216416.9 CNIH1 ENST00000216416.9 Homo sapiens cornichon family AMPA receptor auxiliary protein 1 (CNIH1), mRNA. (from RefSeq NM_005776) CNIH CNIH_HUMAN CNIL ENST00000216416.1 ENST00000216416.2 ENST00000216416.3 ENST00000216416.4 ENST00000216416.5 ENST00000216416.6 ENST00000216416.7 ENST00000216416.8 NM_005776 O95406 Q3SYM7 UNQ155/PRO181 uc001xat.1 uc001xat.2 uc001xat.3 Involved in the selective transport and maturation of TGF-alpha family proteins. Interacts with AREG immature precursor and with immature TGFA, i.e. with a prosegment and lacking full N-glycosylation, but not with the fully N-glycosylated form. In the Golgi apparatus, may form a complex with GORASP55 and transmembrane TGFA. Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane. Note=Located primarily in the ER; may cycle between the ER and the Golgi apparatus. Highly expressed in heart, liver, skeletal muscle, pancreas, adrenal medulla and cortex, thyroid, testis, spleen, appendix, peripheral blood lymphocytes and bone marrow. Lower expression found in brain, placenta, lung, kidney, ovary, small intestine, stomach, lymph node, thymus and fetal liver. Belongs to the cornichon family. Golgi membrane endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus ER to Golgi vesicle-mediated transport immune response signal transduction ER to Golgi transport vesicle membrane membrane integral component of membrane vesicle-mediated transport endoplasmic reticulum-Golgi intermediate compartment membrane COPII vesicle coating uc001xat.1 uc001xat.2 uc001xat.3 
ENST00000216420.12 CGRRF1 ENST00000216420.12 Homo sapiens cell growth regulator with ring finger domain 1 (CGRRF1), mRNA. (from RefSeq NM_006568) CGR19 CGRF1_HUMAN ENST00000216420.1 ENST00000216420.10 ENST00000216420.11 ENST00000216420.2 ENST00000216420.3 ENST00000216420.4 ENST00000216420.5 ENST00000216420.6 ENST00000216420.7 ENST00000216420.8 ENST00000216420.9 NM_006568 Q96BX2 Q99675 RNF197 uc001xay.1 uc001xay.2 uc001xay.3 uc001xay.4 uc001xay.5 Able to inhibit growth in several cell lines (By similarity). Nucleus. Contains 1 RING-type zinc finger. nucleus nucleoplasm endoplasmic reticulum cell cycle cell cycle arrest negative regulation of cell proliferation intracellular membrane-bounded organelle metal ion binding uc001xay.1 uc001xay.2 uc001xay.3 uc001xay.4 uc001xay.5 
ENST00000216442.12 ATP6V1D ENST00000216442.12 Homo sapiens ATPase H+ transporting V1 subunit D (ATP6V1D), mRNA. (from RefSeq NM_015994) ATP6M B2RE33 ENST00000216442.1 ENST00000216442.10 ENST00000216442.11 ENST00000216442.2 ENST00000216442.3 ENST00000216442.4 ENST00000216442.5 ENST00000216442.6 ENST00000216442.7 ENST00000216442.8 ENST00000216442.9 NM_015994 Q9Y5K8 Q9Y688 VATD VATD_HUMAN uc001xjf.1 uc001xjf.2 uc001xjf.3 uc001xjf.4 uc001xjf.5 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the V1 domain D subunit protein. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.236310.1, SRR1803613.130608.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216442.12/ ENSP00000216442.7 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Subunit of the peripheral V1 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system (By similarity). V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components: a, c, c', c'' and d). Belongs to the V-ATPase D subunit family. protein binding lysosomal membrane cytosol plasma membrane ion transport insulin receptor signaling pathway membrane regulation of macroautophagy cell projection organization proton-transporting V-type ATPase complex transferrin transport ion transmembrane transport specific granule membrane ATPase activity, coupled to transmembrane movement of substances neutrophil degranulation proton-transporting ATPase activity, rotational mechanism cilium assembly protein localization to cilium extracellular exosome phagosome acidification hydrogen ion transmembrane transport centrosome cilium uc001xjf.1 uc001xjf.2 uc001xjf.3 uc001xjf.4 uc001xjf.5 
ENST00000216446.9 PLEK2 ENST00000216446.9 Homo sapiens pleckstrin 2 (PLEK2), mRNA. (from RefSeq NM_016445) ENST00000216446.1 ENST00000216446.2 ENST00000216446.3 ENST00000216446.4 ENST00000216446.5 ENST00000216446.6 ENST00000216446.7 ENST00000216446.8 NM_016445 PLEK2_HUMAN Q96JT0 Q9NYT0 uc001xjh.1 uc001xjh.2 uc001xjh.3 The protein encoded by this gene associates with membrane-bound phosphatidylinositols generated by phosphatidylinositol 3-kinase. The encoded protein then interacts with the actin cytoskeleton to induce cell spreading. In conjunction with complement component 1, q subcomponent, B chain (C1QB), this gene shows an increase in expression in melanoma cells and may serve as an accurate biomarker for the disease. [provided by RefSeq, Dec 2015]. ##Evidence-Data-START## Transcript exon combination :: SRR5189658.122977.1, BC001226.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145893, SAMEA2146411 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216446.9/ ENSP00000216446.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May help orchestrate cytoskeletal arrangement. Contribute to lamellipodia formation. Cell projection, lamellipodium membrane; Peripheral membrane protein. Cytoplasm, cytoskeleton. Contains 1 DEP domain. Contains 2 PH domains. cytoplasm cytoskeleton plasma membrane membrane actin cytoskeleton organization lamellipodium membrane positive regulation of cell projection organization actin cytoskeleton reorganization phosphatidylinositol-3-phosphate binding intracellular signal transduction cell projection phosphatidylinositol-3,4-bisphosphate binding phosphatidylinositol-3,5-bisphosphate binding uc001xjh.1 uc001xjh.2 uc001xjh.3 
ENST00000216452.9 PIGH ENST00000216452.9 Homo sapiens phosphatidylinositol glycan anchor biosynthesis class H (PIGH), transcript variant 1, mRNA. (from RefSeq NM_004569) B2RAA4 ENST00000216452.1 ENST00000216452.2 ENST00000216452.3 ENST00000216452.4 ENST00000216452.5 ENST00000216452.6 ENST00000216452.7 ENST00000216452.8 NM_004569 PIGH_HUMAN Q14442 uc001xjr.1 uc001xjr.2 uc001xjr.3 This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. The protein encoded by this gene is a subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.5166.1, SRR1803613.53054.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216452.9/ ENSP00000216452.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Part of the complex catalyzing the transfer of N- acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis. UDP-N-acetyl-D-glucosamine + 1-phosphatidyl- 1D-myo-inositol = UDP + 6-(N-acetyl-alpha-D-glucosaminyl)-1- phosphatidyl-1D-myo-inositol. Glycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis. Associates with PIGA, PIGC, PIGP, PIGQ and DPM2. The latter is not essential for activity. Cytoplasm. Belongs to the PIGH family. Name=Functional Glycomics Gateway - GTase; Note=Phosphatidylinositol N-acetylglucosaminyltransferase subunit H; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_557"; glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex catalytic activity cytoplasm endoplasmic reticulum endoplasmic reticulum membrane cellular protein modification process GPI anchor biosynthetic process preassembly of GPI anchor in ER membrane transferase activity transferase activity, transferring glycosyl groups phosphatidylinositol N-acetylglucosaminyltransferase activity uc001xjr.1 uc001xjr.2 uc001xjr.3 
ENST00000216455.9 PSMA3 ENST00000216455.9 Homo sapiens proteasome 20S subunit alpha 3 (PSMA3), transcript variant 1, mRNA. (from RefSeq NM_002788) B2RCK6 ENST00000216455.1 ENST00000216455.2 ENST00000216455.3 ENST00000216455.4 ENST00000216455.5 ENST00000216455.6 ENST00000216455.7 ENST00000216455.8 HC8 NM_002788 P25788 PSA3_HUMAN PSC8 Q86U83 Q8N1D8 Q9BS70 uc001xdj.1 uc001xdj.2 uc001xdj.3 uc001xdj.4 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Two alternative transcripts encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. Binds to the C-terminus of CDKN1A and thereby mediates its degradation. Negatively regulates the membrane trafficking of the cell-surface thromboxane A2 receptor (TBXA2R) isoform 2. Cleavage of peptide bonds with very broad specificity. The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits. The 20S proteasome core is composed of 28 subunits that are arranged in four stacked rings, resulting in a barrel-shaped structure. The two end rings are each formed by seven alpha subunits, and the two central rings are each formed by seven beta subunits. The catalytic chamber with the active sites is on the inside of the barrel. Interacts with AURKB. Interacts with CDKN1A. Interacts with HIV-1 TAT protein. Interacts with hepatitis C virus (HCV) F protein. Interacts with Epstein-Barr virus EBNA3 proteins. Interacts with MDM2 and RB1. Interacts with the C-terminus of TBXA2R isoform 2. P29590:PML; NbExp=2; IntAct=EBI-348380, EBI-295890; P25786:PSMA1; NbExp=3; IntAct=EBI-348380, EBI-359352; P25789:PSMA4; NbExp=4; IntAct=EBI-348380, EBI-359310; P60900:PSMA6; NbExp=2; IntAct=EBI-348380, EBI-357793; O14818:PSMA7; NbExp=4; IntAct=EBI-348380, EBI-603272; Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P25788-1; Sequence=Displayed; Name=2; IsoId=P25788-2; Sequence=VSP_005280; Down-regulated by antioxidants BO-653 and probucol. Up- regulated by bacterial lipopolysaccharides (LPS) and TNF. Belongs to the peptidase T1A family. MAPK cascade protein polyubiquitination proteasome complex stimulatory C-type lectin receptor signaling pathway antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent endopeptidase activity threonine-type endopeptidase activity protein binding nucleus nucleoplasm cytoplasm cytosol proteasome core complex proteolysis ubiquitin-dependent protein catabolic process regulation of cellular amino acid metabolic process peptidase activity proteasomal protein catabolic process proteasomal ubiquitin-independent protein catabolic process negative regulation of G2/M transition of mitotic cell cycle viral process protein deubiquitination hydrolase activity proteasome core complex, alpha-subunit complex anaphase-promoting complex-dependent catabolic process SCF-dependent proteasomal ubiquitin-dependent protein catabolic process ubiquitin protein ligase binding tumor necrosis factor-mediated signaling pathway NIK/NF-kappaB signaling Fc-epsilon receptor signaling pathway proteasome-mediated ubiquitin-dependent protein catabolic process regulation of mRNA stability post-translational protein modification synapse T cell receptor signaling pathway proteolysis involved in cellular protein catabolic process regulation of endopeptidase activity transmembrane transport Wnt signaling pathway, planar cell polarity pathway regulation of transcription from RNA polymerase II promoter in response to hypoxia extracellular exosome interleukin-1-mediated signaling pathway negative regulation of canonical Wnt signaling pathway positive regulation of canonical Wnt signaling pathway regulation of mitotic cell cycle phase transition regulation of hematopoietic stem cell differentiation uc001xdj.1 uc001xdj.2 uc001xdj.3 uc001xdj.4 
ENST00000216468.8 TMED8 ENST00000216468.8 Homo sapiens transmembrane p24 trafficking protein family member 8 (TMED8), transcript variant 2, mRNA. (from RefSeq NM_213601) B3KTI6 ENST00000216468.1 ENST00000216468.2 ENST00000216468.3 ENST00000216468.4 ENST00000216468.5 ENST00000216468.6 ENST00000216468.7 FAM15B L10 NM_213601 Q3MJB0 Q6PL24 Q9P1V9 TMED8_HUMAN uc001xto.1 uc001xto.2 uc001xto.3 Contains 1 GOLD domain. Sequence=AAF62560.1; Type=Erroneous gene model prediction; uc001xto.1 uc001xto.2 uc001xto.3 
ENST00000216471.5 SAMD15 ENST00000216471.5 Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA. (from RefSeq NM_001010860) C14orf174 ENST00000216471.1 ENST00000216471.2 ENST00000216471.3 ENST00000216471.4 FAM15A NM_001010860 Q2M3P3 Q9P1V8 SAM15_HUMAN uc001xtq.1 uc001xtq.2 uc001xtq.3 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9P1V8-1; Sequence=Displayed; Name=2; IsoId=Q9P1V8-2; Sequence=VSP_023431, VSP_023432; Contains 1 SAM (sterile alpha motif) domain. uc001xtq.1 uc001xtq.2 uc001xtq.3 
ENST00000216479.8 AHSA1 ENST00000216479.8 Homo sapiens activator of HSP90 ATPase activity 1 (AHSA1), transcript variant 1, mRNA. (from RefSeq NM_012111) AHSA1_HUMAN B2R9L2 C14orf3 ENST00000216479.1 ENST00000216479.2 ENST00000216479.3 ENST00000216479.4 ENST00000216479.5 ENST00000216479.6 ENST00000216479.7 HSPC322 NM_012111 O95433 Q96IL6 Q9P060 uc001xtw.1 uc001xtw.2 uc001xtw.3 uc001xtw.4 uc001xtw.5 Cochaperone that stimulates HSP90 ATPase activity (By similarity). May affect a step in the endoplasmic reticulum to Golgi trafficking. Interacts with HSPCA/HSP90 and with the cytoplasmic tail of the vesicular stomatitis virus glycoprotein (VSV G). Interacts with GCH1. Interacts with SRPK1. P30793:GCH1; NbExp=3; IntAct=EBI-448610, EBI-958183; P07900:HSP90AA1; NbExp=4; IntAct=EBI-448610, EBI-296047; Cytoplasm, cytosol. Endoplasmic reticulum. Note=May transiently interact with the endoplasmic reticulum. Expressed in numerous tissues, including brain, heart, skeletal muscle and kidney and, at lower levels, liver and placenta. By heat shock and treatment with the HSP90 inhibitor 17-demethoxygeldanamycin (17AAG). Belongs to the AHA1 family. ATPase activator activity protein binding cytoplasm endoplasmic reticulum cytosol positive regulation of ATPase activity cadherin binding chaperone binding Hsp90 protein binding extracellular exosome uc001xtw.1 uc001xtw.2 uc001xtw.3 uc001xtw.4 uc001xtw.5 
ENST00000216484.7 SPTLC2 ENST00000216484.7 Homo sapiens serine palmitoyltransferase long chain base subunit 2 (SPTLC2), mRNA. (from RefSeq NM_004863) ENST00000216484.1 ENST00000216484.2 ENST00000216484.3 ENST00000216484.4 ENST00000216484.5 ENST00000216484.6 KIAA0526 LCB2 NM_004863 O15270 Q16685 SPTC2_HUMAN uc001xub.1 uc001xub.2 uc001xub.3 uc001xub.4 uc001xub.5 This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB011098.1, SRR1660809.78040.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SSSPTA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SSSPTB complex displays a preference for C18-CoA substrate. Palmitoyl-CoA + L-serine = CoA + 3-dehydro-D- sphinganine + CO(2). Pyridoxal phosphate (By similarity). Lipid metabolism; sphingolipid metabolism. Heterodimer with SPTLC1. Component of the serine palmitoyltransferase (SPT) complex, composed of LCB1/SPTLC1, LCB2 (SPTLC2 or SPTLC3) and ssPT (C14orf147/SSSPTA and C3orf57/SSSPTB). Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity). Widely expressed. Defects in SPTLC2 are the cause of hereditary sensory and autonomic neuropathy type 1C (HSAN1C) [MIM:613640]. It is a form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1C symptoms include loss of touch and vibration in the feet, dysesthesia and severe panmodal sensory loss in the upper and lower limbs, distal lower limb sensory loss with ulceration and osteomyelitis, and distal muscle weakness. Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family. Sequence=BAA25452.2; Type=Erroneous initiation; catalytic activity serine C-palmitoyltransferase activity endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process sphingolipid metabolic process sphingomyelin biosynthetic process biosynthetic process membrane integral component of membrane transferase activity transferase activity, transferring acyl groups serine C-palmitoyltransferase complex sphingolipid biosynthetic process pyridoxal phosphate binding sphinganine biosynthetic process sphingosine biosynthetic process ceramide biosynthetic process adipose tissue development positive regulation of lipophagy uc001xub.1 uc001xub.2 uc001xub.3 uc001xub.4 uc001xub.5 
ENST00000216487.12 RIN3 ENST00000216487.12 Homo sapiens Ras and Rab interactor 3 (RIN3), transcript variant 1, mRNA. (from RefSeq NM_024832) ENST00000216487.1 ENST00000216487.10 ENST00000216487.11 ENST00000216487.2 ENST00000216487.3 ENST00000216487.4 ENST00000216487.5 ENST00000216487.6 ENST00000216487.7 ENST00000216487.8 ENST00000216487.9 NM_024832 Q76LB3 Q8NF30 Q8TB24 Q8TEE8 Q8WYP4 Q9H6A5 Q9HAG1 RIN3_HUMAN uc001yap.1 uc001yap.2 uc001yap.3 uc001yap.4 uc001yap.5 This protein encoded by this gene is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases. The protein functions as a guanine nucleotide exchange for RAB5B and RAB31. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. Potential Ras effector protein. May function as a guanine nucleotide exchange (GEF), by exchanging bound GDP for free GTP. Interacts with RAB5B and BIN1. P16333:NCK1; NbExp=2; IntAct=EBI-1570523, EBI-389883; P19174:PLCG1; NbExp=3; IntAct=EBI-1570523, EBI-79387; Cytoplasm. Cytoplasmic vesicle. Early endosome. Note=Activation of tyrosine phosphorylation signaling induces translocation to cytoplasmic vesicles. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8TB24-1; Sequence=Displayed; Name=4; IsoId=Q8TB24-4; Sequence=VSP_007587, VSP_007588; Note=No experimental confirmation available; Widely expressed. Belongs to the RIN (Ras interaction/interference) family. Contains 1 Ras-associating domain. Contains 1 SH2 domain. Contains 1 VPS9 domain. Sequence=BAB13888.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; Sequence=BAB15357.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC03432.1; Type=Miscellaneous discrepancy; Note=Intron retention; GTPase activator activity protein binding cytoplasm endosome early endosome cytosol endocytosis signal transduction Rab guanyl-nucleotide exchange factor activity Rab GTPase binding cytoplasmic vesicle positive regulation of GTPase activity uc001yap.1 uc001yap.2 uc001yap.3 uc001yap.4 uc001yap.5 
ENST00000216489.8 ALKBH1 ENST00000216489.8 Homo sapiens alkB homolog 1, histone H2A dioxygenase (ALKBH1), mRNA. (from RefSeq NM_006020) ABH ABH1 ALKB1_HUMAN ALKBH ENST00000216489.1 ENST00000216489.2 ENST00000216489.3 ENST00000216489.4 ENST00000216489.5 ENST00000216489.6 ENST00000216489.7 NM_006020 Q13686 Q8TAU1 Q9ULA7 uc001xuc.1 uc001xuc.2 uc001xuc.3 This gene encodes a homolog to the E. coli alkB gene product. The E. coli alkB protein is part of the adaptive response mechanism of DNA alkylation damage repair. It is involved in damage reversal by oxidative demethylation of 1-methyladenine and 3-methylcytosine. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803616.180648.1, SRR1660805.27277.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2467144, SAMN03267755 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216489.8/ ENSP00000216489.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Dioxygenase that repairs alkylated single-stranded DNA and RNA containing 3-methylcytosine by oxidative demethylation. Requires molecular oxygen, alpha-ketoglutarate and iron. May have a role in placental trophoblast lineage differentiation (By similarity). Has DNA lyase activity and introduces double-stranded breaks at abasic sites. Cleaves both single-stranded DNA and double-stranded DNA at abasic sites, with the greatest activity towards double-stranded DNA with two abasic sites. DNA lyase activity does not require alpha-ketoglutarate and iron. The C-O-P bond 3' to the apurinic or apyrimidinic site in DNA is broken by a beta-elimination reaction, leaving a 3'-terminal unsaturated sugar and a product with a terminal 5'-phosphate. DNA-base-CH(3) + 2-oxoglutarate + O(2) = DNA- base + formaldehyde + succinate + CO(2). Binds 1 Fe(2+) ion per subunit. Monomer. Interacts with DNAJB6 (By similarity). Mitochondrion. Nucleus (By similarity). Note=Mainly localizes in euchromatin, largely excluded from heterochromatin and nucleoli (By similarity). Ubiquitous. Belongs to the alkB family. Contains 1 Fe2OG dioxygenase domain. Detected in cytoplasm and nucleus When expressed as fusion protein with an N-terminal tag, or when the first 26 N- terminal residues are removed (PubMed:17979886 and PubMed:18603530). The endogenous, unmodified protein localizes to mitochondria (PubMed:18603530). Sequence=CAA63047.1; Type=Frameshift; Positions=Several; tRNA binding in utero embryonic development neuron migration placenta development tRNA wobble cytosine modification catalytic activity nucleus nuclear euchromatin mitochondrion DNA repair DNA dealkylation involved in DNA repair regulation of translation regulation of translational initiation regulation of translational elongation cellular response to DNA damage stimulus metabolic process ferrous iron binding regulation of gene expression oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors lyase activity cell differentiation neuron projection development oxidative DNA demethylation oxidative DNA demethylase activity chemoattractant activity RNA repair negative regulation of neuron apoptotic process metal ion binding developmental growth positive chemotaxis dioxygenase activity oxidation-reduction process regulation of mitochondrial translation methylcytosine dioxygenase activity oxidative demethylation DNA demethylation 1-ethyladenine demethylase activity tRNA demethylation tRNA demethylase activity uc001xuc.1 uc001xuc.2 uc001xuc.3 
ENST00000216492.10 CHGA ENST00000216492.10 Homo sapiens chromogranin A (CHGA), transcript variant 1, mRNA. (from RefSeq NM_001275) B2R9E9 CMGA_HUMAN ENST00000216492.1 ENST00000216492.2 ENST00000216492.3 ENST00000216492.4 ENST00000216492.5 ENST00000216492.6 ENST00000216492.7 ENST00000216492.8 ENST00000216492.9 NM_001275 P10645 Q53FA8 Q6NR84 Q96E84 Q96GL7 Q9BQB5 uc001ybc.1 uc001ybc.2 uc001ybc.3 uc001ybc.4 uc001ybc.5 uc001ybc.6 uc001ybc.7 The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. It is found in secretory vesicles of neurons and endocrine cells. This gene product is a precursor to three biologically active peptides; vasostatin, pancreastatin, and parastatin. These peptides act as autocrine or paracrine negative modulators of the neuroendocrine system. Two other peptides, catestatin and chromofungin, have antimicrobial activity and antifungal activity, respectively. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]. Pancreastatin strongly inhibits glucose induced insulin release from the pancreas. Interacts with SCG3 (By similarity). Cytoplasmic vesicle, secretory vesicle lumen (By similarity). Cytoplasmic vesicle, secretory vesicle membrane (By similarity). Secreted. Note=Associated with the secretory granule membrane through direct interaction to SCG3 that in turn binds to cholesterol-enriched lipid rafts in intragranular conditions (By similarity). Sulfated on tyrosine residues and/or contains sulfated glycans. O-glycosylated with core 1 or possibly core 8 glycans. Binds calcium with a low-affinity. Belongs to the chromogranin/secretogranin protein family. regulation of the force of heart contraction mast cell chemotaxis extracellular region extracellular space organelle organization regulation of blood pressure membrane antimicrobial humoral response transport vesicle secretory granule transport vesicle membrane cytoplasmic vesicle killing of cells of other organism mast cell cytokine production protein localization to secretory granule negative regulation of catecholamine secretion chromaffin granule mast cell granule defense response to bacterium mast cell degranulation innate immune response mast cell activation perinuclear region of cytoplasm defense response to Gram-negative bacterium defense response to Gram-positive bacterium defense response to fungus positive regulation of cardiac muscle contraction adrenergic receptor signaling pathway involved in cardiac muscle relaxation positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway negative regulation of neuron death positive regulation of relaxation of cardiac muscle positive regulation of dense core granule biogenesis uc001ybc.1 uc001ybc.2 uc001ybc.3 uc001ybc.4 uc001ybc.5 uc001ybc.6 uc001ybc.7 
ENST00000216500.9 DHRS7 ENST00000216500.9 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y394-1; Sequence=Displayed; Name=2; IsoId=Q9Y394-2; Sequence=VSP_008103; Note=No experimental confirmation available; (from UniProt Q9Y394) AL117420 B2R896 CGI-86 DHRS7A DHRS7_HUMAN ENST00000216500.1 ENST00000216500.2 ENST00000216500.3 ENST00000216500.4 ENST00000216500.5 ENST00000216500.6 ENST00000216500.7 ENST00000216500.8 Q9UKU2 Q9Y394 RETSDR4 UNQ285/PRO3448 uc001xes.1 uc001xes.2 uc001xes.3 uc001xes.4 uc001xes.5 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y394-1; Sequence=Displayed; Name=2; IsoId=Q9Y394-2; Sequence=VSP_008103; Note=No experimental confirmation available; Belongs to the short-chain dehydrogenases/reductases (SDR) family. membrane oxidoreductase activity oxidation-reduction process uc001xes.1 uc001xes.2 uc001xes.3 uc001xes.4 uc001xes.5 
ENST00000216513.5 SIX4 ENST00000216513.5 Homo sapiens SIX homeobox 4 (SIX4), mRNA. (from RefSeq NM_017420) ENST00000216513.1 ENST00000216513.2 ENST00000216513.3 ENST00000216513.4 NM_017420 Q4QQH5 Q4V764 Q9UIU6 SIX4_HUMAN uc001xfc.1 uc001xfc.2 uc001xfc.3 uc001xfc.4 uc001xfc.5 This gene encodes a member of the homeobox family, subfamily SIX. The drosophila homolog is a nuclear homeoprotein required for eye development. Studies in mouse show that this gene product functions as a transcription factor, and may have a role in the differentiation or maturation of neuronal cells. [provided by RefSeq, May 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.140483.1, BC098135.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2467146 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216513.5/ ENSP00000216513.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Nucleus (By similarity). Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the SIX/Sine oculis homeobox family. Contains 1 homeobox DNA-binding domain. Sequence=BAA86223.1; Type=Erroneous initiation; Sequence=EAW80786.1; Type=Erroneous initiation; nuclear chromatin transcription regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus transcription factor complex cytoplasm regulation of transcription, DNA-templated multicellular organism development skeletal muscle tissue development regulation of synaptic growth at neuromuscular junction male gonad development anatomical structure morphogenesis regulation of gene expression male sex determination olfactory placode formation regulation of protein localization protein localization to nucleus inner ear morphogenesis negative regulation of apoptotic process negative regulation of neuron apoptotic process sequence-specific DNA binding tongue development sarcomere organization negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter male sex differentiation thymus development generation of neurons embryonic cranial skeleton morphogenesis embryonic skeletal system morphogenesis anatomical structure development regulation of epithelial cell proliferation myoblast migration pharyngeal system development myotome development fungiform papilla morphogenesis trigeminal ganglion development metanephric mesenchyme development regulation of branch elongation involved in ureteric bud branching positive regulation of ureteric bud formation positive regulation of branching involved in ureteric bud morphogenesis skeletal muscle fiber differentiation negative regulation of satellite cell differentiation uc001xfc.1 uc001xfc.2 uc001xfc.3 uc001xfc.4 uc001xfc.5 
ENST00000216540.5 SLC10A1 ENST00000216540.5 Homo sapiens solute carrier family 10 member 1 (SLC10A1), mRNA. (from RefSeq NM_003049) B9EGB6 ENST00000216540.1 ENST00000216540.2 ENST00000216540.3 ENST00000216540.4 GIG29 NM_003049 NTCP NTCP_HUMAN Q14973 Q2TU29 uc001xlr.1 uc001xlr.2 uc001xlr.3 uc001xlr.4 The protein encoded by this gene belongs to the sodium/bile acid cotransporter family, which are integral membrane glycoproteins that participate in the enterohepatic circulation of bile acids. Two homologous transporters are involved in the reabsorption of bile acids; the ileal sodium/bile acid cotransporter with an apical cell localization that absorbs bile acids from the intestinal lumen, bile duct and kidney, and the liver-specific sodium/bile acid cotransporter, represented by this protein, that is found in the basolateral membranes of hepatocytes. Bile acids are the catabolic product of cholesterol metabolism, hence this protein is important for cholesterol homeostasis. [provided by RefSeq, Oct 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189664.103981.1, SRR5189664.104510.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145122, SAMEA2155590 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216540.5/ ENSP00000216540.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## The hepatic sodium/bile acid uptake system exhibits broad substrate specificity and transports various non-bile acid organic compounds as well. It is strictly dependent on the extracellular presence of sodium. Membrane; Multi-pass membrane protein. Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family. virus receptor activity plasma membrane integral component of plasma membrane ion transport sodium ion transport bile acid:sodium symporter activity bile acid transmembrane transporter activity symporter activity bile acid and bile salt transport membrane integral component of membrane viral process basolateral plasma membrane viral entry into host cell transmembrane transport uc001xlr.1 uc001xlr.2 uc001xlr.3 uc001xlr.4 
ENST00000216554.8 EIF5 ENST00000216554.8 Homo sapiens eukaryotic translation initiation factor 5 (EIF5), transcript variant 1, mRNA. (from RefSeq NM_001969) ENST00000216554.1 ENST00000216554.2 ENST00000216554.3 ENST00000216554.4 ENST00000216554.5 ENST00000216554.6 ENST00000216554.7 IF5_HUMAN NM_001969 P55010 Q53XB3 Q9H5N2 Q9UG48 uc001ymq.1 uc001ymq.2 uc001ymq.3 uc001ymq.4 uc001ymq.5 uc001ymq.6 Eukaryotic translation initiation factor-5 (EIF5) interacts with the 40S initiation complex to promote hydrolysis of bound GTP with concomitant joining of the 60S ribosomal subunit to the 40S initiation complex. The resulting functional 80S ribosomal initiation complex is then active in peptidyl transfer and chain elongations (summary by Si et al., 1996 [PubMed 8663286]).[supplied by OMIM, May 2010]. Catalyzes the hydrolysis of GTP bound to the 40S ribosomal initiation complex (40S.mRNA.Met-tRNA[F].eIF-2.GTP) with the subsequent joining of a 60S ribosomal subunit resulting in the release of eIF-2 and the guanine nucleotide. The subsequent joining of a 60S ribosomal subunit results in the formation of a functional 80S initiation complex (80S.mRNA.Met-tRNA[F]). Belongs to the eIF-2-beta/eIF-5 family. Contains 1 W2 domain. nucleotide binding formation of translation preinitiation complex formation of cytoplasmic translation initiation complex RNA binding translation initiation factor activity GTPase activity GDP-dissociation inhibitor activity protein binding GTP binding cytoplasm cytosol plasma membrane translation translational initiation regulation of translational initiation translation factor activity, RNA binding cadherin binding eukaryotic initiation factor eIF2 binding activation of GTPase activity nucleus uc001ymq.1 uc001ymq.2 uc001ymq.3 uc001ymq.4 uc001ymq.5 uc001ymq.6 
ENST00000216629.11 BDKRB1 ENST00000216629.11 This is a receptor for bradykinin. Could be a factor in chronic pain and inflammation. (from UniProt P46663) A8K7F5 BKRB1_HUMAN BRADYB1 ENST00000216629.1 ENST00000216629.10 ENST00000216629.2 ENST00000216629.3 ENST00000216629.4 ENST00000216629.5 ENST00000216629.6 ENST00000216629.7 ENST00000216629.8 ENST00000216629.9 NM_001386007 P46663 Q546S7 Q8N0Y8 uc001yfh.1 uc001yfh.2 uc001yfh.3 uc001yfh.4 uc001yfh.5 This is a receptor for bradykinin. Could be a factor in chronic pain and inflammation. Cell membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor 1 family. Bradykinin receptor subfamily. BDKRB1 sub-subfamily. Name=Wikipedia; Note=Bradykinin receptor entry; URL="http://en.wikipedia.org/wiki/Bradykinin_receptor"; negative regulation of protein phosphorylation positive regulation of leukocyte migration G-protein coupled receptor activity bradykinin receptor activity protein binding endoplasmic reticulum plasma membrane integral component of plasma membrane inflammatory response signal transduction G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration protein kinase C-activating G-protein coupled receptor signaling pathway response to mechanical stimulus membrane integral component of membrane cell migration sensory perception of pain negative regulation of cell growth response to lipopolysaccharide peptide binding neuron projection negative regulation of blood pressure positive regulation of release of sequestered calcium ion into cytosol uc001yfh.1 uc001yfh.2 uc001yfh.3 uc001yfh.4 uc001yfh.5 
ENST00000216639.8 VRK1 ENST00000216639.8 Homo sapiens VRK serine/threonine kinase 1 (VRK1), mRNA. (from RefSeq NM_003384) ENST00000216639.1 ENST00000216639.2 ENST00000216639.3 ENST00000216639.4 ENST00000216639.5 ENST00000216639.6 ENST00000216639.7 NM_003384 Q3SYL2 Q99986 VRK1_HUMAN uc001yft.1 uc001yft.2 uc001yft.3 uc001yft.4 uc001yft.5 This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, thymus, fetal liver, and carcinomas. Its protein localizes to the nucleus and has been shown to promote the stability and nuclear accumulation of a transcriptionally active p53 molecule and, in vitro, to phosphorylate Thr18 of p53 and reduce p53 ubiquitination. This gene, therefore, may regulate cell proliferation. This protein also phosphorylates histone, casein, and the transcription factors ATF2 (activating transcription factor 2) and c-JUN. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC103761.1, SRR1803611.253760.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216639.8/ ENSP00000216639.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Serine/threonine kinase involved in Golgi disassembly during the cell cycle: following phosphorylation by PLK3 during mitosis, required to induce Golgi fragmentation. Acts by mediating phosphorylation of downstream target protein. Phosphorylates 'Thr- 18' of p53/TP53 and may thereby prevent the interaction between p53/TP53 and MDM2. Phosphorylates casein and histone H3. Phosphorylates BANF1: disrupts its ability to bind DNA, reduces its binding to LEM domain-containing proteins and causes its relocalization from the nucleus to the cytoplasm. ATP + a protein = ADP + a phosphoprotein. Active in presence of Mn(2+), Mg(2+) and Zn(2+), but is not functional with Ca(2+) or Cu(2+). Has a higher affinity for Mn(2+) than for Mg(2+). RAN inhibits its autophosphorylation and its ability to phosphorylate histone H3. P15336:ATF2; NbExp=5; IntAct=EBI-1769146, EBI-1170906; P38432:COIL; NbExp=9; IntAct=EBI-1769146, EBI-945751; P05412:JUN; NbExp=4; IntAct=EBI-1769146, EBI-852823; Q9H4B4:PLK3; NbExp=12; IntAct=EBI-1769146, EBI-751877; P62826:RAN; NbExp=12; IntAct=EBI-1769146, EBI-286642; Q12888:TP53BP1; NbExp=8; IntAct=EBI-1769146, EBI-396540; Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, spindle (By similarity). Note=Dispersed throughout the cell but not located on mitotic spindle or chromatids during mitosis. Widely expressed. Highly expressed in fetal liver, testis and thymus. Autophosphorylated at various serine and threonine residues. Autophosphorylation does not impair its ability to phosphorylate p53/TP53. Phosphorylation by PLK3 leads to induction of Golgi fragmentation during mitosis. Defects in VRK1 are the cause of pontocerebellar hypoplasia type 1A (PCH1A) [MIM:607596]; also called pontocerebellar hypoplasia with infantile spinal muscular atrophy or pontocerebellar hypoplasia with anterior horn cell disease. PCH1A is characterized by an abnormally small cerebellum and brainstem, central and peripheral motor dysfunction from birth, gliosis and anterior horn cell degeneration resembling infantile spinal muscular atrophy (SMA). Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. VRK subfamily. Contains 1 protein kinase domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/VRK1ID43556ch14q32.html"; nucleotide binding protein kinase activity protein serine/threonine kinase activity protein binding ATP binding nucleus nucleoplasm nucleolus cytoplasm Golgi stack spindle cytosol cytoskeleton protein phosphorylation cell cycle mitotic nuclear envelope disassembly mitotic nuclear envelope reassembly kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation protein kinase binding nucleosomal histone binding histone kinase activity (H3-S10 specific) histone H3-S10 phosphorylation protein autophosphorylation cell division histone kinase activity (H3-T3 specific) histone H3-T3 phosphorylation Golgi disassembly uc001yft.1 uc001yft.2 uc001yft.3 uc001yft.4 uc001yft.5 
ENST00000216727.9 PABPN1 ENST00000216727.9 Homo sapiens poly(A) binding protein nuclear 1 (PABPN1), transcript variant 1, mRNA. (from RefSeq NM_004643) D3DS49 ENST00000216727.1 ENST00000216727.2 ENST00000216727.3 ENST00000216727.4 ENST00000216727.5 ENST00000216727.6 ENST00000216727.7 ENST00000216727.8 NM_004643 O43484 PAB2 PABP2 PABP2_HUMAN Q86U42 uc001wjk.1 uc001wjk.2 uc001wjk.3 uc001wjk.4 uc001wjk.5 This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3' ends of eukaryotic transcripts and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. This gene contains a GCG trinucleotide repeat at the 5' end of the coding region, and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Related pseudogenes have been identified on chromosomes 19 and X. Read-through transcription also exists between this gene and the neighboring upstream BCL2-like 2 (BCL2L2) gene. [provided by RefSeq, Dec 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.332773.1, SRR1163655.418336.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Involved in the 3'-end formation of mRNA precursors (pre-mRNA) by the addition of a poly(A) tail of 200-250 nt to the upstream cleavage product. Stimulates poly(A) polymerase (PAPOLA) conferring processivity on the poly(A) tail elongation reaction and controls also the poly(A) tail length. Increases the affinity of poly(A) polymerase for RNA. Is also present at various stages of mRNA metabolism including nucleocytoplasmic trafficking and nonsense-mediated decay (NMD) of mRNA. Cooperates with SKIP to synergistically activate E-box-mediated transcription through MYOD1 and may regulate the expression of muscle-specific genes. Binds to poly(A) and to poly(G) with high affinity. May protect the poly(A) tail from degradation (By similarity). Monomer and homooligomer. Binds RNA as a monomer and oligomerizes when bound to poly(A). Interacts with PAPOLA, but only in presence of oligo(A) RNA. Interacts with transportin (By similarity). Identified in a mRNP granule complex, at least composed of ACTB, ACTN4, DHX9, ERG, HNRNPA1, HNRNPA2B1, HNRNPAB, HNRNPD, HNRNPL, HNRNPR, HNRNPU, HSPA1, HSPA8, IGF2BP1, ILF2, ILF3, NCBP1, NCL, PABPC1, PABPC4, PABPN1, RPLP0, RPS3, RPS3A, RPS4X, RPS8, RPS9, SYNCRIP, TROVE2, YBX1 and untranslated mRNAs. Association in a ternary complex with CPSF4 and influenza A virus NS1 blocks pre-mRNAs processing, thereby preventing nuclear export of host cell mRNAs. Associates in a single complex with SKIP and MYOD1 and interacts with SKIP in differentiated myocytes. Interacts with NUDT21/CPSF5. Nucleus (By similarity). Cytoplasm. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Shuttles between the nucleus and the cytoplasm but predominantly found in the nucleus. Its nuclear import may involve the nucleocytoplasmic transport receptor transportin and a RAN-GTP-sensitive import mechanism. Is exported to the cytoplasm by a carrier-mediated pathway that is independent of mRNA traffic. Nucleus; nuclear speckle. Colocalizes with SKIP and poly(A) RNA in nuclear speckles (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q86U42-1; Sequence=Displayed; Name=2; IsoId=Q86U42-2; Sequence=VSP_009847, VSP_009848; Note=May be due to a competing donor splice site; Name=3; Synonyms=BCL2L2-PABPN1; IsoId=Q92843-2; Sequence=External; Note=Based on a readthrough transcript which may produce a BCL2L2-PABPN1 fusion protein. No experimental confirmation available; Ubiquitous. The RRM domain is essential for specific adenine bases recognition in the poly(A) tail but not sufficient for poly(A) binding (By similarity). Arginine dimethylation is asymmetric and involves PRMT1 and PRMT3. It does not influence the RNA binding properties (By similarity). The poly-Ala region of PABPN1 is polymorphic (6-7 repeats) in the population and is expanded to 8-13 repeats in OPMD patients. Compound heterozygotes for (GCG)9 mutation and a (GCG)7 allele result in earlier onset and more severe clinical manifestations of the disease. Defects in PABPN1 are the cause of oculopharyngeal muscular dystrophy (OPMD) [MIM:164300]. OPMD is a form of late- onset slowly progressive myopathy characterized by eyelid ptosis, dysphagia and, sometimes by other cranial and limb-muscle involvement. Intranuclear filamentous inclusions or "aggregates" are detected in the myocytes of patients; these inclusions contain PABPN1, ubiquitin, subunits of the proteasome and poly(A) RNA. The association of the expanded polyalanine mutations together with the capability to oligomerize may induce these inclusions and cell death. Expanded polyalanine mutations may either result from unequal crossing over during germ cell homologous recombination or from DNA slippage. The pathogenic mechanisms mediated by polyalanine expansion mutations may be either a general disruption of cellular RNA metabolism due to the trapping by the inclusions of PABPN1, mRNAs and/or nuclear proteins, resulting in the induction of cell death; or may change the normal muscle cell differentiation. Contains 1 RRM (RNA recognition motif) domain. Sequence=CAD62310.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PABPN1"; MAPK cascade mRNA splicing, via spliceosome nucleic acid binding RNA binding protein binding nucleus nucleoplasm cytoplasm termination of RNA polymerase II transcription RNA processing mRNA processing muscle contraction nuclear speck poly(A)+ mRNA export from nucleus mRNA 3'-end processing nuclear inclusion body modification by virus of host mRNA processing RNA polymerase binding cellular response to lipopolysaccharide positive regulation of polynucleotide adenylyltransferase activity ribonucleoprotein complex uc001wjk.1 uc001wjk.2 uc001wjk.3 uc001wjk.4 uc001wjk.5 
ENST00000216733.8 EFS ENST00000216733.8 Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA. (from RefSeq NM_005864) B2RAJ7 CASS3 EFS_HUMAN ENST00000216733.1 ENST00000216733.2 ENST00000216733.3 ENST00000216733.4 ENST00000216733.5 ENST00000216733.6 ENST00000216733.7 NM_005864 O43281 O43282 uc001wjo.1 uc001wjo.2 uc001wjo.3 uc001wjo.4 uc001wjo.5 uc001wjo.6 The protein encoded by this gene is a member of the CAS (CRK-associated substrate) family of adaptor proteins which typically serve as scaffolds for the assembly of larger signaling complexes. These complexes form at the cell surface where integrin binding leads to the subsequent phosphorylation of a CAS protein. Additional binding of SRC family kinases leads to CAS hyperphosphorylation and the creation of binding sites for CRK and other proteins that cause actin cytoskeleton reorganization. This gene plays a role in integrin-mediated cell attachment, spreading, and migration and also plays a role in both normal and malignant cellular transformation. This broadly expressed gene has been shown to play a role in neurite outgrowth and its expression in the thymus and lymphocytes is important for T cell maturation and the development of immunological self-tolerance. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020]. Docking protein which plays a central coordinating role for tyrosine-kinase-based signaling related to cell adhesion. May serve as an activator of SRC and a downstream effector. Interacts with the SH3 domain of FYN and with CRK, SRC, and YES (By similarity). Event=Alternative splicing; Named isoforms=2; Name=Efs1; IsoId=O43281-1; Sequence=Displayed; Name=Efs2; IsoId=O43281-2; Sequence=VSP_004232; The protein has been detected in lung and placenta. Contains a central domain (substrate domain) containing multiple potential SH2-binding sites and a C-terminal domain containing a divergent helix-loop-helix (HLH) motif. The SH2- binding sites putatively bind CRK, NCK and ABL SH2 domains. The SH3-binding sites that bind to the SRC SH3 domain are required for interaction with CRK and are implicated in promotion of serum response element (SRE) activation. The SH3 domain interacts with PTK2/FAK1. Phosphorylated on multiple tyrosine residues. Phosphorylated on tyrosines by FYN and SRC (By similarity). Belongs to the CAS family. Contains 1 SH3 domain. protein binding cytoplasm cell adhesion cell migration SH3 domain binding protein domain specific binding intracellular signal transduction actin filament reorganization plasma membrane uc001wjo.1 uc001wjo.2 uc001wjo.3 uc001wjo.4 uc001wjo.5 uc001wjo.6 
ENST00000216756.11 CINP ENST00000216756.11 Homo sapiens cyclin dependent kinase 2 interacting protein (CINP), transcript variant 1, mRNA. (from RefSeq NM_032630) CINP_HUMAN ENST00000216756.1 ENST00000216756.10 ENST00000216756.2 ENST00000216756.3 ENST00000216756.4 ENST00000216756.5 ENST00000216756.6 ENST00000216756.7 ENST00000216756.8 ENST00000216756.9 NM_032630 Q9BW66 Q9NPF9 uc059fna.1 uc059fna.2 The protein encoded by this gene is reported to be a component of the DNA replication complex as well as a genome-maintenance protein. It may interact with proteins important for replication initiation and has been shown to bind chromatin at the G1 phase of the cell cycle and dissociate from chromatin with replication initiation. It may also serve to regulate checkpoint signaling as part of the DNA damage response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. ##Evidence-Data-START## Transcript exon combination :: SRR5189658.143715.1, SRR1660803.130635.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216756.11/ ENSP00000216756.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Interacts with the components of the replication complex and 2 kinases, CDK2 and CDC7, thereby providing a functional and physical link between CDK2 and CDC7 during firing of the origins of replication. Regulates ATR-mediated checkpoint signaling. Homodimer. Interacts with CDK2 and CDC7. Interacts with the components of the replication complex, MCM2, MCM3, MCM4, MCM5, MCM6, MCM7 and with ORC2-containing complexes. Interacts with ATRIP. Interacts with CEP152. Nucleus. Note=Binds to nuclear under G1 conditions, and dissociates from chromatin with the start of DNA replication. Phosphorylated by CDC7 but not by CDK2. Belongs to the CINP family. protein binding nucleus DNA replication DNA repair cellular response to DNA damage stimulus cell cycle cell division uc059fna.1 uc059fna.2 
ENST00000216780.9 PCK2 ENST00000216780.9 Homo sapiens phosphoenolpyruvate carboxykinase 2, mitochondrial (PCK2), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_004563) ENST00000216780.1 ENST00000216780.2 ENST00000216780.3 ENST00000216780.4 ENST00000216780.5 ENST00000216780.6 ENST00000216780.7 ENST00000216780.8 NM_004563 O43253 PCKGM_HUMAN PEPCK2 Q16822 Q86U01 Q9BV62 uc001wlt.1 uc001wlt.2 uc001wlt.3 uc001wlt.4 uc001wlt.5 This gene encodes a mitochondrial enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate in the presence of guanosine triphosphate (GTP). A cytosolic form of this protein is encoded by a different gene and is the key enzyme of gluconeogenesis in the liver. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2014]. Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle (By similarity). GTP + oxaloacetate = GDP + phosphoenolpyruvate + CO(2). Manganese (By similarity). Binds 1 manganese ion per subunit (By similarity). Carbohydrate biosynthesis; gluconeogenesis. Monomer. P84022:SMAD3; NbExp=2; IntAct=EBI-2825219, EBI-347161; Mitochondrion. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q16822-1; Sequence=Displayed; Name=2; IsoId=Q16822-2; Sequence=VSP_038783; Phosphorylated upon DNA damage, probably by ATM or ATR. Defects in PCK2 are the cause of mitochondrial phosphoenolpyruvate carboxykinase deficiency (M-PEPCKD) [MIM:261650]. A metabolic disorder resulting from impaired gluconeogenesis. It is a rare disease with less than 10 cases reported in the literature. Clinical characteristics include hypotonia, hepatomegaly, failure to thrive, lactic acidosis and hypoglycemia. Autoposy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait. In eukaryotes there are two isozymes: a cytoplasmic one and a mitochondrial one. Belongs to the phosphoenolpyruvate carboxykinase [GTP] family. Sequence=CAD62600.1; Type=Erroneous initiation; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PCK2"; nucleotide binding phosphoenolpyruvate carboxykinase activity phosphoenolpyruvate carboxykinase (GTP) activity protein binding GTP binding mitochondrion mitochondrial matrix cytosol pyruvate metabolic process gluconeogenesis lyase activity carboxy-lyase activity purine nucleotide binding propionate catabolic process manganese ion binding cellular response to insulin stimulus response to lipid response to starvation glycerol biosynthetic process from pyruvate metal ion binding hepatocyte differentiation cellular response to glucose stimulus cellular response to dexamethasone stimulus uc001wlt.1 uc001wlt.2 uc001wlt.3 uc001wlt.4 uc001wlt.5 
ENST00000216797.10 NFKBIA ENST00000216797.10 Homo sapiens NFKB inhibitor alpha (NFKBIA), mRNA. (from RefSeq NM_020529) B2R8L6 ENST00000216797.1 ENST00000216797.2 ENST00000216797.3 ENST00000216797.4 ENST00000216797.5 ENST00000216797.6 ENST00000216797.7 ENST00000216797.8 ENST00000216797.9 IKBA IKBA_HUMAN MAD3 NFKBI NM_020529 P25963 uc001wtf.1 uc001wtf.2 uc001wtf.3 uc001wtf.4 uc001wtf.5 uc001wtf.6 This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC004983.1, M69043.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216797.10/ ENSP00000216797.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL dimers in the cytoplasm through masking of their nuclear localization signals. On cellular stimulation by immune and proinflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to translocate to the nucleus and activate transcription. Interacts with RELA; the interaction requires the nuclear import signal. Interacts with NKIRAS1 and NKIRAS2. Part of a 70-90 kDa complex at least consisting of CHUK, IKBKB, NFKBIA, RELA, IKBKAP and MAP3K14. Interacts with HBV protein X. Interacts with RWDD3; the interaction enhances sumoylation. Interacts (when phosphorylated at the 2 serine residues in the destruction motif D-S-G-X(2,3,4)-S) with BTRC. Associates with the SCF(BTRC) complex, composed of SKP1, CUL1 and BTRC; the association is mediated via interaction with BTRC. Part of a SCF(BTRC)-like complex lacking CUL1, which is associated with RELA; RELA interacts directly with NFKBIA. Interacts with PRMT2. Interacts with PRKACA in platelets; this interaction is disrupted by thrombin and collagen. Interacts with HIF1AN. Self; NbExp=2; IntAct=EBI-307386, EBI-307386; O15111:CHUK; NbExp=6; IntAct=EBI-307386, EBI-81249; Q60680-2:Chuk (xeno); NbExp=2; IntAct=EBI-307386, EBI-646264; Q8N668:COMMD1; NbExp=3; IntAct=EBI-307386, EBI-1550112; O14920:IKBKB; NbExp=9; IntAct=EBI-307386, EBI-81266; Q9Y6K9:IKBKG; NbExp=2; IntAct=EBI-307386, EBI-81279; P19838:NFKB1; NbExp=2; IntAct=EBI-307386, EBI-300010; Q04206:RELA; NbExp=12; IntAct=EBI-307386, EBI-73886; Cytoplasm. Nucleus. Note=Shuttles between the nucleus and the cytoplasm by a nuclear localization signal (NLS) and a CRM1-dependent nuclear export (By similarity). Induced in adherent monocytes. Phosphorylated; disables inhibition of NF-kappa-B DNA-binding activity. Phosphorylation at positions 32 and 36 is prerequisite to recognition by UBE2D3 leading to polyubiquitination and subsequent degradation. Sumoylated; sumoylation requires the presence of the nuclear import signal. Monoubiquitinated at Lys-21 and/or Lys-22 by UBE2D3. Ubiquitin chain elongation is then performed by CDC34 in cooperation with the SCF(FBXW11) E3 ligase complex, building ubiquitin chains from the UBE2D3-primed NFKBIA-linked ubiquitin. The resulting polyubiquitination leads to protein degradation. Also ubiquitinated by SCF(BTRC) following stimulus-dependent phosphorylation at Ser-32 and Ser-36. Deubiquitinated by porcine reproductive and respiratory syndrome virus Nsp2 protein, which thereby interferes with NFKBIA degradation and impairs subsequent NF-kappa-B activation. Defects in NFKBIA are the cause of ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant (ADEDAID) [MIM:612132]. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. ADEDAID is an ectodermal dysplasia associated with decreased production of pro-inflammatory cytokines and certain interferons, rendering patients susceptible to infection. Belongs to the NF-kappa-B inhibitor family. Contains 5 ANK repeats. Name=NFKBIAbase; Note=NFKBIA mutation db; URL="http://bioinf.uta.fi/NFKBIAbase/"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/nfkbia/"; protein binding nucleus nucleoplasm cytoplasm cytosol plasma membrane protein import into nucleus apoptotic process I-kappaB kinase/NF-kappaB signaling cytoplasmic sequestering of NF-kappaB transcription factor binding nuclear localization sequence binding regulation of gene expression negative regulation of macrophage derived foam cell differentiation positive regulation of cholesterol efflux negative regulation of lipid storage viral process protein deubiquitination enzyme binding ubiquitin protein ligase binding lipopolysaccharide-mediated signaling pathway negative regulation of NF-kappaB transcription factor activity positive regulation of cellular protein metabolic process response to muramyl dipeptide response to lipopolysaccharide tumor necrosis factor-mediated signaling pathway I-kappaB/NF-kappaB complex toll-like receptor 4 signaling pathway response to muscle stretch regulation of cell proliferation identical protein binding cytoplasmic sequestering of transcription factor negative regulation of apoptotic process response to exogenous dsRNA negative regulation of DNA binding negative regulation of myeloid cell differentiation negative regulation of Notch signaling pathway positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter positive regulation of inflammatory response NF-kappaB binding cellular response to cold nucleotide-binding oligomerization domain containing 1 signaling pathway nucleotide-binding oligomerization domain containing 2 signaling pathway interleukin-1-mediated signaling pathway cellular response to tumor necrosis factor regulation of NIK/NF-kappaB signaling uc001wtf.1 uc001wtf.2 uc001wtf.3 uc001wtf.4 uc001wtf.5 uc001wtf.6 
ENST00000216799.9 EMC9 ENST00000216799.9 Homo sapiens ER membrane protein complex subunit 9 (EMC9), transcript variant 1, mRNA. (from RefSeq NM_016049) C14orf122 CGI-112 D3DS60 EMC9_HUMAN ENST00000216799.1 ENST00000216799.2 ENST00000216799.3 ENST00000216799.4 ENST00000216799.5 ENST00000216799.6 ENST00000216799.7 ENST00000216799.8 FAM158A NM_016049 Q9BUM3 Q9Y3B6 uc001wmi.1 uc001wmi.2 uc001wmi.3 uc001wmi.4 Component of the ER membrane protein complex (EMC). Cytoplasm. Belongs to the EMC8/EMC9 family. protein binding cytoplasm ER membrane protein complex uc001wmi.1 uc001wmi.2 uc001wmi.3 uc001wmi.4 
ENST00000216802.10 PSME2 ENST00000216802.10 Homo sapiens proteasome activator subunit 2 (PSME2), mRNA. (from RefSeq NM_002818) ENST00000216802.1 ENST00000216802.2 ENST00000216802.3 ENST00000216802.4 ENST00000216802.5 ENST00000216802.6 ENST00000216802.7 ENST00000216802.8 ENST00000216802.9 NM_002818 PSME2_HUMAN Q15129 Q9UL46 uc001wmj.1 uc001wmj.2 uc001wmj.3 uc001wmj.4 uc001wmj.5 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the beta subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three beta and three alpha subunits combine to form a heterohexameric ring. Six pseudogenes have been identified on chromosomes 4, 5, 8, 10 and 13. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK026580.1, SRR1163655.105740.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216802.10/ ENSP00000216802.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Implicated in immunoproteasome assembly and required for efficient antigen processing. The PA28 activator complex enhances the generation of class I binding peptides by altering the cleavage pattern of the proteasome. Heterodimer of PSME1 and PSME2, which forms a hexameric ring. By IFNG/IFN-gamma. Belongs to the PA28 family. MAPK cascade protein polyubiquitination proteasome complex stimulatory C-type lectin receptor signaling pathway antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent protein binding nucleoplasm cytoplasm cytosol regulation of cellular amino acid metabolic process proteasome activator complex positive regulation of endopeptidase activity negative regulation of G2/M transition of mitotic cell cycle membrane protein deubiquitination anaphase-promoting complex-dependent catabolic process SCF-dependent proteasomal ubiquitin-dependent protein catabolic process tumor necrosis factor-mediated signaling pathway interleukin-12-mediated signaling pathway NIK/NF-kappaB signaling Fc-epsilon receptor signaling pathway identical protein binding proteasome-mediated ubiquitin-dependent protein catabolic process regulation of mRNA stability post-translational protein modification T cell receptor signaling pathway transmembrane transport Wnt signaling pathway, planar cell polarity pathway endopeptidase activator activity regulation of proteasomal protein catabolic process regulation of transcription from RNA polymerase II promoter in response to hypoxia extracellular exosome interleukin-1-mediated signaling pathway negative regulation of canonical Wnt signaling pathway positive regulation of canonical Wnt signaling pathway regulation of mitotic cell cycle phase transition regulation of hematopoietic stem cell differentiation regulation of G1/S transition of mitotic cell cycle uc001wmj.1 uc001wmj.2 uc001wmj.3 uc001wmj.4 uc001wmj.5 
ENST00000216807.12 BRMS1L ENST00000216807.12 Homo sapiens BRMS1 like transcriptional repressor (BRMS1L), mRNA. (from RefSeq NM_032352) A6NFW5 A6NH45 BRM1L_HUMAN ENST00000216807.1 ENST00000216807.10 ENST00000216807.11 ENST00000216807.2 ENST00000216807.3 ENST00000216807.4 ENST00000216807.5 ENST00000216807.6 ENST00000216807.7 ENST00000216807.8 ENST00000216807.9 NM_032352 Q5PSV4 Q9BRI4 uc001wtl.1 uc001wtl.2 uc001wtl.3 uc001wtl.4 uc001wtl.5 The protein encoded by this gene shows sequence similarity to the human breast carcinoma metastasis suppressor (BRMS1) protein and the mammalian Sds3 (suppressor of defective silencing 3) proteins. This protein is a component of the mSin3a family of histone deacetylase complexes (HDAC). [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.414428.1, SRR3476690.829117.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216807.12/ ENSP00000216807.6 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Involved in the histone deacetylase (HDAC1)-dependent transcriptional repression activity. When overexpressed in lung cancer cell line that lacks p53/TP53 expression, inhibits cell growth. Component of the Sin3/HDAC1 corepressor complex at least composed of BRMS1, BRMS1L and ING2/ING1L. Interacts with HDAC and SIN3A. Nucleus (Probable). Belongs to the BRMS1 family. negative regulation of transcription from RNA polymerase II promoter protein binding nucleus histone deacetylation regulation of growth histone deacetylase binding Sin3-type complex histone deacetylase activity uc001wtl.1 uc001wtl.2 uc001wtl.3 uc001wtl.4 uc001wtl.5 
ENST00000216832.9 PNN ENST00000216832.9 Homo sapiens pinin, desmosome associated protein (PNN), mRNA. (from RefSeq NM_002687) B4DZX8 DRS ENST00000216832.1 ENST00000216832.2 ENST00000216832.3 ENST00000216832.4 ENST00000216832.5 ENST00000216832.6 ENST00000216832.7 ENST00000216832.8 MEMA NM_002687 O60899 PININ_HUMAN Q53EM7 Q6P5X4 Q7KYL1 Q99738 Q9H307 Q9UHZ9 Q9UQR9 uc001wuw.1 uc001wuw.2 uc001wuw.3 uc001wuw.4 uc001wuw.5 uc001wuw.6 Transcriptional activator binding to the E-box 1 core sequence of the E-cadherin promoter gene; the core-binding sequence is 5'CAGGTG-3'. Capable of reversing CTBP1-mediated transcription repression. Component of a splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of a few core proteins and several more peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Participates in the regulation of alternative pre-mRNA splicing. Associates to spliced mRNA within 60 nt upstream of the 5'-splice sites. Involved in the establishment and maintenance of epithelia cell-cell adhesion. Potential tumor suppressor for renal cell carcinoma. Found in a mRNA splicing-dependent exon junction complex (EJC), at least composed of ACIN1, CASC3, EIF4A3, MAGOH, PNN, RBM8A, RNPS1, SAP18 and ALYREF/THOC4. Found in a complex with SR proteins. Found in a mRNP complex with RNPS1. Interacts with C6orf111/SRRP130, CTBP1, CTBP2, KRT8, KRT18, KRT19, PS1D/PNO40, PPIG, RNPS1, SFRS4 and SRRM2. Identified in the spliceosome C complex. Q9UBC1:NFKBIL1; NbExp=1; IntAct=EBI-681904, EBI-1043728; Q15287:RNPS1; NbExp=1; IntAct=EBI-681904, EBI-395959; Nucleus speckle. Cell junction, desmosome. Note=Cell-cell contact area, predominantly desmosome of intercellular adherens junction. Not a nucleocytoplasmic shuttling protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H307-1; Sequence=Displayed; Name=2; IsoId=Q9H307-2; Sequence=VSP_015307; Expressed in placenta, lung, liver, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, heart, epidermis, esophagus, brain and smooth and skeletal muscle. Expressed strongly in melanoma metastasis lesions and advanced primary tumors. Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the pinin family. mRNA splicing, via spliceosome DNA binding RNA binding structural molecule activity protein binding nucleus spliceosomal complex intermediate filament plasma membrane cell-cell junction mRNA processing cell adhesion RNA splicing membrane nuclear speck cell junction desmosome exon-exon junction complex catalytic step 2 spliceosome uc001wuw.1 uc001wuw.2 uc001wuw.3 uc001wuw.4 uc001wuw.5 uc001wuw.6 
ENST00000216862.8 CYP24A1 ENST00000216862.8 Homo sapiens cytochrome P450 family 24 subfamily A member 1 (CYP24A1), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_000782) CP24A_HUMAN CYP24 ENST00000216862.1 ENST00000216862.2 ENST00000216862.3 ENST00000216862.4 ENST00000216862.5 ENST00000216862.6 ENST00000216862.7 NM_000782 Q07973 Q15807 Q32ML3 uc002xwv.1 uc002xwv.2 uc002xwv.3 uc002xwv.4 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Has a role in maintaining calcium homeostasis. Catalyzes the NADPH-dependent 24-hydroxylation of calcidiol (25- hydroxyvitamin D(3)) and calcitriol (1-alpha,25-dihydroxyvitamin D(3)). The enzyme can perform up to 6 rounds of hydroxylation of calcitriol leading to calcitroic acid. It also shows 23- hydroxylating activity leading to 1-alpha,25-dihydroxyvitamin D(3)-26,23-lactone as end product. Calcitriol + NADPH + O(2) = calcitetrol + NADP(+) + H(2)O. Calcidiol + NADPH + O(2) = secalciferol + NADP(+) + H(2)O. Heme group (By similarity). Mitochondrion. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q07973-1; Sequence=Displayed; Name=2; IsoId=Q07973-2; Sequence=VSP_043101; Note=No experimental confirmation available; Defects in CYP24A1 are the cause of hypercalcemia infantile (HCAI) [MIM:143880]. HCAI is a disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis. Belongs to the cytochrome P450 family. osteoblast differentiation monooxygenase activity iron ion binding nucleus nucleoplasm mitochondrion mitochondrial outer membrane plasma membrane vitamin metabolic process 25-hydroxycholecalciferol-24-hydroxylase activity oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen heme binding 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity response to vitamin D vitamin D metabolic process vitamin D catabolic process metal ion binding oxidation-reduction process vitamin D receptor signaling pathway uc002xwv.1 uc002xwv.2 uc002xwv.3 uc002xwv.4 
ENST00000216879.9 NSFL1C ENST00000216879.9 Homo sapiens NSFL1 cofactor (NSFL1C), transcript variant 1, mRNA. (from RefSeq NM_016143) A2A2L1 B2RD74 ENST00000216879.1 ENST00000216879.2 ENST00000216879.3 ENST00000216879.4 ENST00000216879.5 ENST00000216879.6 ENST00000216879.7 ENST00000216879.8 NM_016143 NSF1C_HUMAN Q5JXA4 Q5JXA5 Q7Z533 Q9H102 Q9NVL9 Q9UI06 Q9UNZ2 UBXN2C uc002wfc.1 uc002wfc.2 uc002wfc.3 uc002wfc.4 N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein encoded by this gene binds a hexamer of cytosolic p97 and is required for p97-mediated regrowth of Golgi cisternae from mitotic Golgi fragments. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, May 2011]. Reduces the ATPase activity of VCP. Necessary for the fragmentation of Golgi stacks during mitosis and for VCP-mediated reassembly of Golgi stacks after mitosis. May play a role in VCP- mediated formation of transitional endoplasmic reticulum (tER) (By similarity). Inhibits the activity of CTSL (in vitro). Part of a ternary complex containing STX5A, NSFL1C and VCP. NSFL1C forms a homotrimer that binds to one end of a VCP homohexamer. The complex binds to membranes enriched in phosphatidylethanolamine-containing lipids and promotes Golgi membrane fusion. Interaction with VCIP135 leads to dissociation of the complex via ATP hydrolysis by VCP. Binds ubiquitin and mono- ubiquitinated proteins via its N-terminal UBA-like domain when bound to VCP (By similarity). Nucleus (By similarity). Golgi apparatus, Golgi stack (By similarity). Chromosome (By similarity). Note=Predominantly nuclear in interphase cells. Bound to the axial elements of sex chromosomes in pachytene spermatocytes. A small proportion of the protein is cytoplasmic, associated with Golgi stacks (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9UNZ2-1; Sequence=Displayed; Name=2; IsoId=Q9UNZ2-4; Sequence=VSP_009263; Note=No experimental confirmation available; Name=3; IsoId=Q9UNZ2-5; Sequence=VSP_009262; Name=4; IsoId=Q9UNZ2-6; Sequence=VSP_041062; Phosphorylated during mitosis. Phosphorylation inhibits interaction with Golgi membranes and is required for the fragmentation of the Golgi stacks during mitosis (By similarity). Belongs to the NSFL1C family. Contains 1 SEP domain. Contains 1 UBX domain. Sequence=AAF17199.1; Type=Frameshift; Positions=Several; Sequence=AAF17199.1; Type=Miscellaneous discrepancy; Note=Sequencing errors; autophagosome assembly establishment of mitotic spindle orientation protein binding phospholipid binding nucleus nucleoplasm chromosome cytoplasm Golgi apparatus Golgi stack microtubule organizing center cytosol cytoskeleton plasma membrane Golgi organization lipid binding nuclear envelope reassembly spindle pole centrosome ubiquitin binding proteasome-mediated ubiquitin-dependent protein catabolic process intermediate filament cytoskeleton positive regulation of mitotic centrosome separation ATPase binding membrane fusion negative regulation of protein localization to centrosome VCP-NSFL1C complex uc002wfc.1 uc002wfc.2 uc002wfc.3 uc002wfc.4 
ENST00000216962.9 PYGB ENST00000216962.9 Homo sapiens glycogen phosphorylase B (PYGB), mRNA. (from RefSeq NM_002862) ENST00000216962.1 ENST00000216962.2 ENST00000216962.3 ENST00000216962.4 ENST00000216962.5 ENST00000216962.6 ENST00000216962.7 ENST00000216962.8 NM_002862 P11216 PYGB_HUMAN Q96AK1 Q9NPX8 uc002wup.1 uc002wup.2 uc002wup.3 uc002wup.4 uc002wup.5 The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.211977.1, SRR1660807.231969.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216962.9/ ENSP00000216962.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties. (1,4-alpha-D-glucosyl)(n) + phosphate = (1,4- alpha-D-glucosyl)(n-1) + alpha-D-glucose 1-phosphate. Pyridoxal phosphate. Activity of phosphorylase is controlled both by allosteric means (through the non-covalent binding of metabolites) and by covalent modification. Thus AMP allosterically activates, whereas ATP, ADP, and glucose-6-phosphate allosterically inhibit, phosphorylase B. Homodimer. Dimers associate into a tetramer to form the enzymatically active phosphorylase A. Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A. Belongs to the glycogen phosphorylase family. catalytic activity phosphorylase activity protein binding extracellular region cytoplasm carbohydrate metabolic process glycogen metabolic process glycogen catabolic process metabolic process glycogen phosphorylase activity membrane transferase activity transferase activity, transferring glycosyl groups pyridoxal phosphate binding azurophil granule lumen neutrophil degranulation extracellular exosome uc002wup.1 uc002wup.2 uc002wup.3 uc002wup.4 uc002wup.5 
ENST00000216968.5 PROCR ENST00000216968.5 Homo sapiens protein C receptor (PROCR), mRNA. (from RefSeq NM_006404) B2RC04 ENST00000216968.1 ENST00000216968.2 ENST00000216968.3 ENST00000216968.4 EPCR EPCR_HUMAN NM_006404 Q14218 Q6IB56 Q96CB3 Q9ULX1 Q9UNN8 uc002xbt.1 uc002xbt.2 uc002xbt.3 uc002xbt.4 uc002xbt.5 uc002xbt.6 The protein encoded by this gene is a receptor for activated protein C, a serine protease activated by and involved in the blood coagulation pathway. The encoded protein is an N-glycosylated type I membrane protein that enhances the activation of protein C. Mutations in this gene have been associated with venous thromboembolism and myocardial infarction, as well as with late fetal loss during pregnancy. The encoded protein may also play a role in malarial infection and has been associated with cancer. [provided by RefSeq, Jul 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC014451.1, SRR5189652.204729.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216968.5/ ENSP00000216968.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Binds activated protein C. Enhances protein C activation by the thrombin-thrombomodulin complex; plays a role in the protein C pathway controlling blood coagulation. P25116:F2R; NbExp=3; IntAct=EBI-719705, EBI-2803960; Membrane; Single-pass type I membrane protein. Expressed strongly in the endothelial cells of arteries and veins in heart and lung, less intensely in capillaries in the lung and skin, and not at all in the endothelium of small vessels of the liver and kidney. N-glycosylated. A soluble form exists; probably released by a metalloprotease. Seems to have the same activity as the membrane- bound form. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/procr/"; protein binding extracellular region extracellular space centrosome plasma membrane integral component of plasma membrane focal adhesion blood coagulation hemostasis cell surface membrane integral component of membrane signaling receptor activity perinuclear region of cytoplasm negative regulation of coagulation extracellular exosome uc002xbt.1 uc002xbt.2 uc002xbt.3 uc002xbt.4 uc002xbt.5 uc002xbt.6 
ENST00000217026.5 MYBL2 ENST00000217026.5 Homo sapiens MYB proto-oncogene like 2 (MYBL2), transcript variant 1, mRNA. (from RefSeq NM_002466) B2RBS5 BMYB ENST00000217026.1 ENST00000217026.2 ENST00000217026.3 ENST00000217026.4 MYBB_HUMAN NM_002466 P10244 uc002xlb.1 uc002xlb.2 uc002xlb.3 uc002xlb.4 The protein encoded by this gene, a member of the MYB family of transcription factor genes, is a nuclear protein involved in cell cycle progression. The encoded protein is phosphorylated by cyclin A/cyclin-dependent kinase 2 during the S-phase of the cell cycle and possesses both activator and repressor activities. It has been shown to activate the cell division cycle 2, cyclin D1, and insulin-like growth factor-binding protein 5 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]. Transcription factor involved in the regulation of cell survival, proliferation, and differentiation. Transactivates the expression of the CLU gene. Component of the DREAM complex (also named LINC complex) at least composed of E2F4, E2F5, LIN9, LIN37, LIN52, LIN54, MYBL1, MYBL2, RBL1, RBL2, RBBP4, TFDP1 and TFDP2. The complex exists in quiescent cells where it represses cell cycle-dependent genes. It dissociates in S phase when LIN9, LIN37, LIN52 and LIN54 form a subcomplex that binds to MYBL22. Nucleus. Phosphorylated by cyclin A/CDK2 during S-phase. Phosphorylation at Thr-520 is probably involved in transcriptional activity. Contains 3 HTH myb-type DNA-binding domains. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MYBL2ID41469ch20q13.html"; mitotic cell cycle RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm regulation of transcription from RNA polymerase II promoter Myb complex positive regulation of neuron apoptotic process positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter regulation of cell cycle mitotic spindle assembly cellular response to leukemia inhibitory factor uc002xlb.1 uc002xlb.2 uc002xlb.3 uc002xlb.4 
ENST00000217043.4 R3HDML ENST00000217043.4 Homo sapiens R3H domain containing like (R3HDML), mRNA. (from RefSeq NM_178491) CRSPL_HUMAN ENST00000217043.1 ENST00000217043.2 ENST00000217043.3 NM_178491 Q9H3Y0 uc002xls.1 uc002xls.2 uc002xls.3 uc002xls.4 uc002xls.5 Putative serine protease inhibitor (By similarity). Secreted (Potential). Belongs to the CRISP family. Despite its name, it does not contain a R3H domain. extracellular region extracellular space negative regulation of peptidase activity peptidase inhibitor activity uc002xls.1 uc002xls.2 uc002xls.3 uc002xls.4 uc002xls.5 
ENST00000217086.9 SALL4 ENST00000217086.9 Homo sapiens spalt like transcription factor 4 (SALL4), transcript variant 1, mRNA. (from RefSeq NM_020436) ENST00000217086.1 ENST00000217086.2 ENST00000217086.3 ENST00000217086.4 ENST00000217086.5 ENST00000217086.6 ENST00000217086.7 ENST00000217086.8 NM_020436 Q540H3 Q9UJQ4 SALL4_HUMAN ZNF797 uc002xwh.1 uc002xwh.2 uc002xwh.3 uc002xwh.4 uc002xwh.5 uc002xwh.6 uc002xwh.7 This gene encodes a zinc finger transcription factor thought to play a role in the development of abducens motor neurons. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. Probable transcription factor. Interacts with NANOG (By similarity). Nucleus (Probable). Expressed in testis. Defects in SALL4 are the cause of Duane-radial ray syndrome (DRRS) [MIM:607323]; also known as Okihiro syndrome. DRRS is a disorder characterized by the association of forearm malformations with Duane retraction syndrome. Defects in SALL4 are the cause of oculootoradial syndrome (OORS) [MIM:147750]. Oculootoradial syndrome is an autosomal dominant condition characterized by upper limbs anomalies (radial ray defects, carpal bones fusion), extraocular motor disturbances, congenital bilateral non-progressive mixed hearing loss. Other less consistent malformations include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation or rectovaginal fistula. The IVIC syndrome is an allelic disorder of Duane-radial ray syndrome (DRRS) with a similar phenotype. Belongs to the sal C2H2-type zinc-finger protein family. Contains 7 C2H2-type zinc fingers. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SALL4"; negative regulation of transcription from RNA polymerase II promoter heterochromatin in utero embryonic development inner cell mass cell proliferation neural tube closure ventricular septum development nucleic acid binding DNA binding protein binding nucleus nucleoplasm cytoplasm regulation of transcription, DNA-templated heart development transcription factor binding tissue development stem cell population maintenance neural tube development embryonic limb morphogenesis macromolecular complex somatic stem cell population maintenance intracellular membrane-bounded organelle positive regulation of transcription from RNA polymerase II promoter metal ion binding uc002xwh.1 uc002xwh.2 uc002xwh.3 uc002xwh.4 uc002xwh.5 uc002xwh.6 uc002xwh.7 
ENST00000217109.9 CSTF1 ENST00000217109.9 Homo sapiens cleavage stimulation factor subunit 1 (CSTF1), transcript variant 2, mRNA. (from RefSeq NM_001324) CSTF1_HUMAN ENST00000217109.1 ENST00000217109.2 ENST00000217109.3 ENST00000217109.4 ENST00000217109.5 ENST00000217109.6 ENST00000217109.7 ENST00000217109.8 NM_001324 Q05048 Q5QPD8 uc002xxm.1 uc002xxm.2 uc002xxm.3 This gene encodes one of three subunits which combine to form cleavage stimulation factor (CSTF). CSTF is involved in the polyadenylation and 3'end cleavage of pre-mRNAs. Similar to mammalian G protein beta subunits, this protein contains transducin-like repeats. Several transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]. One of the multiple factors required for polyadenylation and 3'-end cleavage of mammalian pre-mRNAs. May be responsible for the interaction of CSTF with other factors to form a stable complex on the pre-mRNA. Homodimer. The CSTF complex is composed of CSTF1 (50 kDa subunit), CSTF2 (64 kDa subunit) and CSTF3 (77 kDa subunit). Interacts directly with CSTF3. Interacts with BARD1. Q99728:BARD1; NbExp=4; IntAct=EBI-1789619, EBI-473181; Q9H0E2:TOLLIP; NbExp=2; IntAct=EBI-1789619, EBI-74615; Nucleus. The WD6 domain is required for interaction with BARD1. WD domains are responsible for interaction with CSTF3. N-terminus mediates homodimerization. The N-terminus is blocked. Contains 6 WD repeats. Sequence=CAC12718.2; Type=Erroneous gene model prediction; mRNA splicing, via spliceosome RNA binding protein binding nucleus nucleoplasm mRNA cleavage stimulating factor complex termination of RNA polymerase II transcription mRNA processing mRNA 3'-end processing uc002xxm.1 uc002xxm.2 uc002xxm.3 
ENST00000217133.2 TUBB1 ENST00000217133.2 Homo sapiens tubulin beta 1 class VI (TUBB1), mRNA. (from RefSeq NM_030773) ENST00000217133.1 NM_030773 Q9H4B7 TBB1_HUMAN uc002yak.1 uc002yak.2 uc002yak.3 uc002yak.4 This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AJ292757.1, BC033679.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000217133.2/ ENSP00000217133.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain (By similarity). Dimer of alpha and beta chains (By similarity). Interacts with RANBP10. Cytoplasm, cytoskeleton. Hematopoietic cell-specific. Major isotype in leukocytes, where it represents 50% of all beta-tubulins. Some glutamate residues at the C-terminus are polyglutamylated. This modification occurs exclusively on glutamate residues and results in polyglutamate chains on the gamma-carboxyl group. Also monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella) whereas glutamylation is prevalent in neuronal cells, centrioles, axonemes, and the mitotic spindle. Both modifications can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of such modifications is still unclear but they regulate the assembly and dynamics of axonemal microtubules (Probable). Defects in TUBB1 are a cause of macrothrombocytopenia autosomal dominant TUBB1-related (MAD-TUBB1) [MIM:613112]. It is a congenital blood disorder characterized by increased platelet size and decreased number of circulating platelets. Belongs to the tubulin family. nucleotide binding microtubule cytoskeleton organization mitotic cell cycle GTPase activity structural constituent of cytoskeleton GTP binding cytoplasm cytoskeleton microtubule microtubule-based process spindle assembly extracellular exosome uc002yak.1 uc002yak.2 uc002yak.3 uc002yak.4 
ENST00000217159.6 SLCO4A1 ENST00000217159.6 Homo sapiens solute carrier organic anion transporter family member 4A1 (SLCO4A1), mRNA. (from RefSeq NM_016354) ENST00000217159.1 ENST00000217159.2 ENST00000217159.3 ENST00000217159.4 ENST00000217159.5 NM_016354 OATP1 OATP4A1 OATPE Q96BD0 Q9H4T7 Q9H4T8 Q9H8P2 Q9NWX8 Q9UI35 Q9UIG7 SLC21A12 SO4A1_HUMAN uc002ydb.1 uc002ydb.2 Mediates the Na(+)-independent transport of organic anions such as the thyroid hormones T3 (triiodo-L-thyronine), T4 (thyroxine) and rT3, and of estrone-3-sulfate and taurocholate. Cell membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=4; Comment=Experimental confirmation may be lacking for some isoforms; Name=1; IsoId=Q96BD0-1; Sequence=Displayed; Name=2; IsoId=Q96BD0-2; Sequence=VSP_006152, VSP_006156; Name=3; IsoId=Q96BD0-3; Sequence=VSP_006153, VSP_006155; Name=4; IsoId=Q96BD0-4; Sequence=VSP_006154; Ubiquitous, with the exception of spleen and leukocytes. Belongs to the organo anion transporter (TC 2.A.60) family. Contains 1 Kazal-like domain. Sequence=BAA91247.1; Type=Erroneous initiation; plasma membrane integral component of plasma membrane ion transport sodium-independent organic anion transmembrane transporter activity thyroid hormone transmembrane transporter activity membrane integral component of membrane sodium-independent organic anion transport transmembrane transport thyroid hormone transport uc002ydb.1 uc002ydb.2 
ENST00000217169.8 BIRC7 ENST00000217169.8 Homo sapiens baculoviral IAP repeat containing 7 (BIRC7), transcript variant 1, mRNA. (from RefSeq NM_139317) BIRC7_HUMAN ENST00000217169.1 ENST00000217169.2 ENST00000217169.3 ENST00000217169.4 ENST00000217169.5 ENST00000217169.6 ENST00000217169.7 KIAP LIVIN MLIAP NM_139317 Q96CA5 Q9BQV0 Q9H2A8 Q9HAP7 RNF50 UNQ5800/PRO19607/PRO21344 uc002yej.1 uc002yej.2 uc002yej.3 uc002yej.4 uc002yej.5 This gene encodes a member of the inhibitor of apoptosis protein (IAP) family, and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is essential for inhibitory activity and interacts with caspases, while the RING finger domain sometimes enhances antiapoptotic activity but does not inhibit apoptosis alone. Elevated levels of the encoded protein may be associated with cancer progression and play a role in chemotherapy sensitivity. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jul 2013]. Apoptotic regulator capable of exerting proapoptotic and anti-apoptotic activities and plays crucial roles in apoptosis, cell proliferation, and cell cycle control. Its anti-apoptotic activity is mediated through the inhibition of CASP3, CASP7 and CASP9, as well as by its E3 ubiquitin-protein ligase activity. As it is a weak caspase inhibitor, its anti-apoptotic activity is thought to be due to its ability to ubiquitinate DIABLO/SMAC targeting it for degradation thereby promoting cell survival. May contribute to caspase inhibition, by blocking the ability of DIABLO/SMAC to disrupt XIAP/BIRC4-caspase interactions. Protects against apoptosis induced by TNF or by chemical agents such as adriamycin, etoposide or staurosporine. Suppression of apoptosis is mediated by activation of MAPK8/JNK1, and possibly also of MAPK9/JNK2. This activation depends on TAB1 and NR2C2/TAK1. In vitro, inhibits CASP3 and proteolytic activation of pro-CASP9. Isoform 1 blocks staurosporine-induced apoptosis. Isoform 2 blocks etoposide-induced apoptosis. Isoform 2 protects against natural killer (NK) cell killing whereas isoform 1 augments killing. Binds to CASP9. Interaction with DIABLO/SMAC via the BIR domain disrupts binding to CASP9 and apoptotic suppressor activity. Interacts with TAB1. In vitro, interacts with CASP3 and CASP7 via its BIR domain. P55211:CASP9; NbExp=5; IntAct=EBI-517623, EBI-516799; Q9NR28:DIABLO; NbExp=6; IntAct=EBI-517623, EBI-517508; O43464:HTRA2; NbExp=2; IntAct=EBI-517623, EBI-517086; Nucleus. Cytoplasm. Golgi apparatus. Note=Nuclear, and in a filamentous pattern throughout the cytoplasm. Full-length livin is detected exclusively in the cytoplasm, whereas the truncated form (tLivin) is found in the peri-nuclear region with marked localization to the Golgi apparatus; the accumulation of tLivin in the nucleus shows positive correlation with the increase in apoptosis. Event=Alternative splicing; Named isoforms=2; Name=2; Synonyms=Livin alpha; IsoId=Q96CA5-1; Sequence=Displayed; Name=1; Synonyms=Livin beta; IsoId=Q96CA5-2; Sequence=VSP_002459; Isoform 1 and isoform 2 are expressed at very low levels or not detectable in most adult tissues. Detected in adult heart, placenta, lung, lymph node, spleen and ovary, and in several carcinoma cell lines. Isoform 2 is detected in fetal kidney, heart and spleen, and at lower levels in adult brain, skeletal muscle and peripheral blood leukocytes. The RING domain is essential for autoubiquitination. Autoubiquitinated and undergoes proteasome-mediated degradation. The truncated protein (tLivin) not only loses its anti- apoptotic effect but also acquires a pro-apoptotic effect. Belongs to the IAP family. Contains 1 BIR repeat. Contains 1 RING-type zinc finger. ubiquitin-protein transferase activity cysteine-type endopeptidase inhibitor activity protein binding nucleus cytoplasm Golgi apparatus microtubule organizing center cytosol apoptotic process activation of JUN kinase activity negative regulation of peptidase activity protein ubiquitination transferase activity enzyme binding peptidase inhibitor activity positive regulation of protein ubiquitination regulation of cell proliferation cysteine-type endopeptidase inhibitor activity involved in apoptotic process negative regulation of apoptotic process negative regulation of cysteine-type endopeptidase activity involved in apoptotic process metal ion binding ubiquitin protein ligase activity regulation of natural killer cell apoptotic process inhibition of cysteine-type endopeptidase activity involved in apoptotic process uc002yej.1 uc002yej.2 uc002yej.3 uc002yej.4 uc002yej.5 
ENST00000217173.7 UBOX5 ENST00000217173.7 Homo sapiens U-box domain containing 5 (UBOX5), transcript variant 1, mRNA. (from RefSeq NM_014948) ENST00000217173.1 ENST00000217173.2 ENST00000217173.3 ENST00000217173.4 ENST00000217173.5 ENST00000217173.6 KIAA0860 NM_014948 O94941 Q6IAR5 Q86X87 Q9H4J2 RNF37 RNF37_HUMAN UBCE7IP5 uc002whw.1 uc002whw.2 uc002whw.3 uc002whw.4 uc002whw.5 uc002whw.6 This gene encodes a U-box domain containing protein. The encoded protein interacts with E2 enzymes and may play a role in the ubiquitination pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]. Interacts with UBE2L3 (By similarity). Nucleus (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O94941-1; Sequence=Displayed; Name=2; IsoId=O94941-2; Sequence=VSP_042899; Note=No experimental confirmation available; Contains 1 RING-type zinc finger. Contains 1 U-box domain. Sequence=BAA74883.2; Type=Erroneous initiation; protein polyubiquitination ubiquitin-protein transferase activity protein binding nucleus nucleoplasm focal adhesion protein ubiquitination nuclear body transferase activity ubiquitin protein ligase binding ubiquitin-ubiquitin ligase activity metal ion binding ubiquitin protein ligase activity uc002whw.1 uc002whw.2 uc002whw.3 uc002whw.4 uc002whw.5 uc002whw.6 
ENST00000217182.6 EEF1A2 ENST00000217182.6 Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA. (from RefSeq NM_001958) B5BUF3 E1P5J1 EEF1AL EF1A2_HUMAN ENST00000217182.1 ENST00000217182.2 ENST00000217182.3 ENST00000217182.4 ENST00000217182.5 NM_001958 P54266 Q05639 Q0VGC7 STN uc002yfe.1 uc002yfe.2 uc002yfe.3 uc002yfe.4 uc002yfe.5 This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer. [provided by RefSeq, Mar 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC110409.1, X70940.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000217182.6/ ENSP00000217182.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis. Monomer (By similarity). Nucleus (By similarity). Brain, heart, and skeletal muscle. Belongs to the GTP-binding elongation factor family. EF-Tu/EF-1A subfamily. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/EEF1A2ID40408ch20q13.html"; nucleotide binding translation elongation factor activity GTPase activity protein binding GTP binding cytoplasm eukaryotic translation elongation factor 1 complex translation translational elongation translation factor activity, RNA binding response to inorganic substance protein kinase binding neuronal cell body positive regulation of apoptotic process synapse response to electrical stimulus positive regulation of lipid kinase activity cytoplasmic side of lysosomal membrane regulation of chaperone-mediated autophagy nucleus uc002yfe.1 uc002yfe.2 uc002yfe.3 uc002yfe.4 uc002yfe.5 
ENST00000217188.2 SRMS ENST00000217188.2 Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA. (from RefSeq NM_080823) C20orf148 ENST00000217188.1 NM_080823 Q9H3Y6 SRMS_HUMAN uc002yfi.1 uc002yfi.2 uc002yfi.3 uc002yfi.4 May be involved in proliferation or differentiation of keratinocytes in the skin (By similarity). ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. Belongs to the protein kinase superfamily. Tyr protein kinase family. SRC subfamily. Contains 1 protein kinase domain. Contains 1 SH2 domain. Contains 1 SH3 domain. nucleotide binding protein kinase activity protein tyrosine kinase activity non-membrane spanning protein tyrosine kinase activity receptor binding protein binding ATP binding cytoplasm cytosol protein phosphorylation transmembrane receptor protein tyrosine kinase signaling pathway negative regulation of signal transduction kinase activity phosphorylation cell migration transferase activity peptidyl-tyrosine phosphorylation cell differentiation extrinsic component of cytoplasmic side of plasma membrane peptidyl-tyrosine autophosphorylation regulation of cell proliferation uc002yfi.1 uc002yfi.2 uc002yfi.3 uc002yfi.4 
ENST00000217233.9 TRIB3 ENST00000217233.9 Homo sapiens tribbles pseudokinase 3 (TRIB3), transcript variant 1, mRNA. (from RefSeq NM_021158) C20orf97 ENST00000217233.1 ENST00000217233.2 ENST00000217233.3 ENST00000217233.4 ENST00000217233.5 ENST00000217233.6 ENST00000217233.7 ENST00000217233.8 NIPK NM_021158 Q53GU4 Q53ZW7 Q6I9Y9 Q8TAI6 Q96RU7 Q9H5M8 Q9NUD2 SKIP3 TRB3 TRIB3_HUMAN uc002wdm.1 uc002wdm.2 uc002wdm.3 uc002wdm.4 uc002wdm.5 uc002wdm.6 The protein encoded by this gene is a putative protein kinase that is induced by the transcription factor NF-kappaB. The encoded protein is a negative regulator of NF-kappaB and can also sensitize cells to TNF- and TRAIL-induced apoptosis. In addition, this protein can negatively regulate the cell survival serine-threonine kinase AKT1. Differential promoter usage and alternate splicing result in multiple transcript variants. [provided by RefSeq, Jul 2014]. Disrupts insulin signaling by binding directly to Akt kinases and blocking their activation. May bind directly to and mask the 'Thr-308' phosphorylation site in AKT1. Binds to ATF4 and inhibits its transcriptional activation activity. Interacts with the NF-kappa-B transactivator p65 RELA and inhibits its phosphorylation and thus its transcriptional activation activity. Interacts with MAPK kinases and regulates activation of MAP kinases. May play a role in programmed neuronal cell death but does not appear to affect non-neuronal cells. Does not display kinase activity. Inhibits the transcriptional activity of DDIT3/CHOP and is involved in DDIT3/CHOP-dependent cell death during ER stress. Interacts with AKT1, AKT2, ATF4, MAP2K1 and MAP2K7. Interacts with DDIT3/CHOP and inhibits its interaction with EP300/P300. P18848:ATF4; NbExp=2; IntAct=EBI-492476, EBI-492498; Nucleus (Probable). Highest expression in liver, pancreas, peripheral blood leukocytes and bone marrow. Also highly expressed in a number of primary lung, colon and breast tumors. Expressed in spleen, thymus, and prostate and is undetectable in other examined tissues, including testis, ovary, small intestine, colon, leukocyte, heart, brain, placenta, lung, skeletal muscle, and kidney. By hypoxia, TNF, and by nutrient starvation. Expression is PI 3-kinase and/or NF-kappa-B-dependent. Induced by ER stress via ATF4-DDIT3/CHOP pathway and can downregulate its own induction by repression of ATF4-DDIT3/CHOP functions. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. Tribbles subfamily. Contains 1 protein kinase domain. The role of this protein in Akt activation has been demonstrated by Du et al (PubMed:12791994) for the mouse ortholog but Iynedjian (PubMed:15469416) has not been able to reproduce the result in rat hepatocytes. negative regulation of transcription from RNA polymerase II promoter transcription corepressor activity protein kinase inhibitor activity protein binding ATP binding nucleus cytosol plasma membrane protein phosphorylation negative regulation of protein kinase activity apoptotic process regulation of autophagy regulation of glucose transport regulation of lipid metabolic process protein kinase binding mitogen-activated protein kinase kinase binding ubiquitin protein ligase binding positive regulation of protein binding positive regulation of proteasomal ubiquitin-dependent protein catabolic process cellular response to insulin stimulus response to endoplasmic reticulum stress regulation of MAP kinase activity negative regulation of fat cell differentiation negative regulation of fatty acid biosynthetic process negative regulation of transcription, DNA-templated positive regulation of ubiquitin-protein transferase activity negative regulation of protein kinase B signaling ubiquitin-protein transferase regulator activity intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress kinase activity uc002wdm.1 uc002wdm.2 uc002wdm.3 uc002wdm.4 uc002wdm.5 uc002wdm.6 
ENST00000217246.8 MACROD2 ENST00000217246.8 Homo sapiens mono-ADP ribosylhydrolase 2 (MACROD2), transcript variant 1, mRNA. (from RefSeq NM_080676) A1Z1Q3 A6NFF7 B0QZ39 B3KWV0 C20orf133 ENST00000217246.1 ENST00000217246.2 ENST00000217246.3 ENST00000217246.4 ENST00000217246.5 ENST00000217246.6 ENST00000217246.7 MACD2_HUMAN NM_080676 Q0P6D5 Q495E0 Q5W199 Q6ZN71 uc002wot.1 uc002wot.2 uc002wot.3 uc002wot.4 The protein encoded by this gene is a deacetylase involved in removing ADP-ribose from mono-ADP-ribosylated proteins. The encoded protein has been shown to translocate from the nucleus to the cytoplasm upon DNA damage. [provided by RefSeq, May 2017]. Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins. Kinetic parameters: KM=107 uM for O-acetyl-ADP-ribose; Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=A1Z1Q3-1; Sequence=Displayed; Name=2; IsoId=A1Z1Q3-2; Sequence=VSP_027806; Note=No experimental confirmation available; Name=4; IsoId=A1Z1Q3-4; Sequence=VSP_035478; Note=No experimental confirmation available; Name=5; IsoId=A1Z1Q3-5; Sequence=VSP_035478, VSP_027806; Note=No experimental confirmation available; Name=6; IsoId=A1Z1Q3-6; Sequence=VSP_035721, VSP_035722; Note=No experimental confirmation available; Contains 1 Macro domain. Sequence=BAD18504.1; Type=Frameshift; Positions=151; nucleus nucleolus centrosome cellular response to DNA damage stimulus brain development response to bacterium hydrolase activity hydrolase activity, acting on glycosyl bonds deacetylase activity purine nucleoside metabolic process protein de-ADP-ribosylation uc002wot.1 uc002wot.2 uc002wot.3 uc002wot.4 
ENST00000217254.11 SLC52A3 ENST00000217254.11 Homo sapiens solute carrier family 52 member 3 (SLC52A3), transcript variant 3, mRNA. (from RefSeq NM_001370086) A8K6P1 C20orf54 ENST00000217254.1 ENST00000217254.10 ENST00000217254.2 ENST00000217254.3 ENST00000217254.4 ENST00000217254.5 ENST00000217254.6 ENST00000217254.7 ENST00000217254.8 ENST00000217254.9 NM_001370086 Q5W1A0 Q5W1A1 Q8NCL7 Q96GD5 Q9NQ40 RFT2 S52A3_HUMAN uc284pqm.1 This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven transmembrane domains and a cell surface localization signal in the C-terminus. Mutations at this locus have been associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. [provided by RefSeq, Mar 2012]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## CDS exon combination :: SRR1660805.3173.1, SRR1803617.219045.1 [ECO:0000331] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology ##RefSeq-Attributes-END## Riboflavin transporter. Riboflavin transport is Na(+)- independent but moderately pH-sensitive. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin, flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), and to a lesser extent by amiloride. Kinetic parameters: KM=0.98 uM for riboflavin; Cell membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NQ40-1; Sequence=Displayed; Name=2; IsoId=Q9NQ40-2; Sequence=VSP_003814, VSP_003815; Note=No experimental confirmation available; Predominantly expressed in testis. Highly expressed in small intestine and prostate. Defects in SLC52A3 are the cause of Brown-Vialetto-Van Laere syndrome type 1 (BVVLS1) [MIM:211530]. A rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, which develop over a relatively short period of time in a previously healthy individual. Sensorineural hearing loss may precede the neurological signs. The course is invariably progressive, but the rate of decline is variable within and between families. With disease evolution, long tract signs, lower motor neuron signs, cerebellar ataxia, and lower cranial nerve (III-VI) palsies develop, giving rise to a complex picture resembling amyotrophic lateral sclerosis. Diaphragmatic weakness and respiratory compromise are some of the most distressing features, leading to recurrent chest infections and respiratory failure, which are often the cause of patients' demise. Defects in SLC52A3 are the cause of Fazio-Londe disease (FALOND) [MIM:211500]. A rare neurological disease characterized by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. It may present in childhood with severe neurological deterioration with hypotonia, respiratory insufficiency leading to premature death, or later in life with bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. Belongs to the riboflavin transporter family. It is uncertain whether Met-1 or Met-5 is the initiator. nucleus cytoplasm plasma membrane integral component of plasma membrane riboflavin metabolic process sensory perception of sound membrane integral component of membrane apical plasma membrane nuclear membrane riboflavin transporter activity riboflavin transport cellular response to heat uc284pqm.1 
ENST00000217260.9 RSPO4 ENST00000217260.9 Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA. (from RefSeq NM_001029871) A2A2I6 C20orf182 ENST00000217260.1 ENST00000217260.2 ENST00000217260.3 ENST00000217260.4 ENST00000217260.5 ENST00000217260.6 ENST00000217260.7 ENST00000217260.8 NM_001029871 Q2I0M5 Q9UGB2 RSPO4_HUMAN uc002wej.1 uc002wej.2 uc002wej.3 uc002wej.4 uc002wej.5 This gene encodes a member of the R-spondin family of proteins that share a common domain organization consisting of a signal peptide, cysteine-rich/furin-like domain, thrombospondin domain and a C-terminal basic region. The encoded protein may be involved in activation of Wnt/beta-catenin signaling pathways. Mutations in this gene are associated with anonychia congenital. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]. Activator of the beta-catenin signaling cascade, leading to TCF-dependent gene activation. Acts both in the canonical Wnt/beta-catenin-dependent pathway and in non-canonical Wnt signaling pathway, probably by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway (By similarity). Binds heparin (By similarity). Secreted (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q2I0M5-1; Sequence=Displayed; Name=2; IsoId=Q2I0M5-2; Sequence=VSP_018325; The FU repeat is required for activation and stabilization of beta-catenin (By similarity). Tyr-112 may be phosphorylated; however as this position is probably extracellular, the vivo relevance is not proven. Defects in RSPO4 are the cause of nail disorder non- syndromic congenital type 4 (NDNC4) [MIM:206800]. A nail disorder characterized by congenital anonychia or its milder phenotypic variant hyponychia. Anonychia/hyponychia is the absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies. Upon injection into mice, it induces rapid onset of crypt cell proliferation involving beta-catenin stabilization. It also displays efficacy in a model of chemotherapy-induced intestinal mucositis. Belongs to the R-spondin family. Contains 1 FU (furin-like) repeat. Contains 1 TSP type-1 domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RSPO4"; extracellular region heparin binding Wnt signaling pathway positive regulation of Wnt signaling pathway nail development response to stimulus uc002wej.1 uc002wej.2 uc002wej.3 uc002wej.4 uc002wej.5 
ENST00000217289.9 FERMT1 ENST00000217289.9 Homo sapiens fermitin family member 1 (FERMT1), mRNA. (from RefSeq NM_017671) C20orf42 D3DW10 ENST00000217289.1 ENST00000217289.2 ENST00000217289.3 ENST00000217289.4 ENST00000217289.5 ENST00000217289.6 ENST00000217289.7 ENST00000217289.8 FERM1_HUMAN KIND1 NM_017671 Q8IX34 Q8IYH2 Q9BQL6 Q9NWM2 Q9NXQ3 URP1 uc002wmr.1 uc002wmr.2 uc002wmr.3 uc002wmr.4 This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB105105.1, AF443278.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## Involved in cell adhesion. Contributes to integrin activation. When coexpressed with talin, potentiates activation of ITGA2B. Required for normal keratinocyte proliferation. Required for normal polarization of basal keratinocytes in skin, and for normal cell shape. Required for normal adhesion of keratinocytes to fibronectin and laminin, and for normal keratinocyte migration to wound sites. May mediate TGF-beta 1 signaling in tumor progression. Interacts with the cytoplasmic domain of integrins ITGB1 and ITGB3. Cytoplasm, cytoskeleton. Cell junction, focal adhesion. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Note=Constituent of focal adhesions. Localized at the basal aspect of skin keratinocytes, close to the cell membrane. Colocalizes with filamentous actin. Upon TGFB1 treatment, it localizes to membrane ruffles. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9BQL6-1; Sequence=Displayed; Name=2; IsoId=Q9BQL6-2; Sequence=VSP_003810, VSP_003811; Name=3; IsoId=Q9BQL6-3; Sequence=VSP_003809; Name=4; IsoId=Q9BQL6-4; Sequence=VSP_009224, VSP_009225; Note=No experimental confirmation available; Expressed in brain, skeletal muscle, kidney, colon, adrenal gland, prostate, and placenta. Weakly or not expressed in heart, thymus, spleen, liver, small intestine, bone marrow, lung and peripheral blood leukocytes. Overexpressed in some colon and lung tumors. In skin, it is localized within the epidermis and particularly in basal keratocytes. Not detected in epidermal melanocytes and dermal fibroblasts. By TGFB1. The FERM domain is not correctly detected by PROSITE or Pfam techniques because it contains the insertion of a PH domain. The FERM domain contains the subdomains F1, F2 and F3. It is preceded by a F0 domain with a ubiquitin-like fold. The F0 domain is required for integrin activation and for localization at focal adhesions. Defects in FERMT1 are the cause of Kindler syndrome (KINDS) [MIM:173650]. An autosomal recessive skin disorder characterized by skin blistering, photosensitivity, progressive poikiloderma, and extensive skin atrophy. Additional clinical features include gingival erosions, ocular, esophageal, gastrointestinal and urogenital involvement, and an increased risk of mucocutaneous malignancy. Note=Although most FERMT1 mutations are predicted to lead to premature termination of translation, and to loss of FERMT1 function, significant clinical variability is observed among patients. There is an association of FERMT1 missense and in-frame deletion mutations with milder disease phenotypes, and later onset of complications (PubMed:21936020). Belongs to the kindlin family. Contains 1 FERM domain. Contains 1 PH domain. Sequence=BAA91358.1; Type=Erroneous initiation; Sequence=BAC03826.1; Type=Erroneous initiation; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FERMT1"; positive regulation of cell-matrix adhesion cytoplasm cytosol cytoskeleton plasma membrane focal adhesion cell adhesion integrin-mediated signaling pathway negative regulation of gene expression membrane cell junction positive regulation of transforming growth factor beta receptor signaling pathway ruffle membrane positive regulation of cell adhesion mediated by integrin negative regulation of protein import into nucleus cell projection keratinocyte proliferation actin filament binding keratinocyte migration negative regulation of anagen basement membrane organization negative regulation of canonical Wnt signaling pathway establishment of epithelial cell polarity negative regulation of stem cell proliferation positive regulation of transforming growth factor-beta secretion uc002wmr.1 uc002wmr.2 uc002wmr.3 uc002wmr.4 
ENST00000217320.8 TLDC2 ENST00000217320.8 Homo sapiens TBC/LysM-associated domain containing 2 (TLDC2), transcript variant 1, mRNA. (from RefSeq NM_080628) A0PJX2 B3KVU8 C20orf118 CT118_HUMAN ENST00000217320.1 ENST00000217320.2 ENST00000217320.3 ENST00000217320.4 ENST00000217320.5 ENST00000217320.6 ENST00000217320.7 NM_080628 uc002xgg.1 uc002xgg.2 uc002xgg.3 Belongs to the OXR1 family. Contains 1 TLD domain. uc002xgg.1 uc002xgg.2 uc002xgg.3 
ENST00000217381.3 SNTA1 ENST00000217381.3 Homo sapiens syntrophin alpha 1 (SNTA1), mRNA. (from RefSeq NM_003098) A8K7H9 E1P5N1 ENST00000217381.1 ENST00000217381.2 NM_003098 Q13424 Q16438 SNT1 SNTA1_HUMAN uc002wzd.1 uc002wzd.2 uc002wzd.3 Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK291994.1, BC026215.2 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000217381.3/ ENSP00000217381.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5- bisphosphate (By similarity). Monomer and homodimer. Interacts with the other members of the syntrophin family SNTB1 and SNTB2; SGCG and SGCA of the dystrophin glycoprotein complex; NOS1; GRB2; the sodium channel proteins SCN4A and SCN5A; F-actin and calmodulin (By similarity). Interacts with dystrophin protein DMD and related proteins DTNA and UTRN and with MAPK12, TGFA and GA. O95477:ABCA1; NbExp=2; IntAct=EBI-717191, EBI-784112; Q63538:Mapk12 (xeno); NbExp=5; IntAct=EBI-717191, EBI-783937; Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side (By similarity). Cell junction (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=In skeletal muscle, it localizes at the cytoplasmic side of the sarcolemmal membrane and at neuromuscular junctions (By similarity). High expression in skeletal muscle and heart. Low expression in brain, pancreas, liver, kidney and lung. Not detected in placenta. The PH 1 domain mediates the oligomerization in a calcium dependent manner, and the association with the phosphatidylinositol 4,5-bisphosphate (By similarity). The PDZ domain binds to the last three or four amino acids of ion channels and receptor proteins. The association with dystrophin or related proteins probably leaves the PDZ domain available to recruit proteins to the membrane (By similarity). The SU domain binds calmodulin in a calcium-dependent manner (By similarity). Phosphorylated by CaM-kinase II. Phosphorylation may inhibit the interaction with DMD (By similarity). Defects in SNTA1 are the cause of long QT syndrome type 12 (LQT12) [MIM:612955]. A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to excercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Belongs to the syntrophin family. Contains 1 PDZ (DHR) domain. Contains 2 PH domains. Contains 1 SU (syntrophin unique) domain. regulation of heart rate actin binding structural molecule activity protein binding calmodulin binding cytoplasm cytoskeleton plasma membrane muscle contraction dystrophin-associated glycoprotein complex syntrophin complex membrane cell junction PDZ domain binding neuromuscular junction macromolecular complex sarcolemma ion channel binding synapse nitric-oxide synthase binding ATPase binding regulation of ventricular cardiac muscle cell membrane repolarization ventricular cardiac muscle cell action potential negative regulation of peptidyl-cysteine S-nitrosylation regulation of sodium ion transmembrane transport lateral plasma membrane sodium channel regulator activity uc002wzd.1 uc002wzd.2 uc002wzd.3 
ENST00000217386.2 OXT ENST00000217386.2 Homo sapiens oxytocin/neurophysin I prepropeptide (OXT), mRNA. (from RefSeq NM_000915) ENST00000217386.1 NM_000915 X5D7M6 uc002wht.1 uc002wht.2 This gene encodes a precursor protein that is processed to produce oxytocin and neurophysin I. Oxytocin is a posterior pituitary hormone which is synthesized as an inactive precursor in the hypothalamus along with its carrier protein neurophysin I. Together with neurophysin, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis, where it is either stored or secreted into the bloodstream. The precursor seems to be activated while it is being transported along the axon to the posterior pituitary. This hormone contracts smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. [provided by RefSeq, Dec 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC069144.1, M25650.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145774, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000217386.2/ ENSP00000217386.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## uc002wht.1 uc002wht.2 
ENST00000217402.3 CHMP4B ENST00000217402.3 Homo sapiens charged multivesicular body protein 4B (CHMP4B), mRNA. (from RefSeq NM_176812) C20orf178 CHM4B_HUMAN E1P5N4 ENST00000217402.1 ENST00000217402.2 NM_176812 Q53ZD6 Q9H444 SHAX1 uc002xaa.1 uc002xaa.2 uc002xaa.3 uc002xaa.4 uc002xaa.5 This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein (CHMP) protein family. The protein is part of the endosomal sorting complex required for transport (ESCRT) complex III (ESCRT-III), which functions in the sorting of endocytosed cell-surface receptors into multivesicular endosomes. The ESCRT machinery also functions in the final abscisson stage of cytokinesis and in the budding of enveloped viruses such as HIV-1. The three proteins of the CHMP4 subfamily interact with programmed cell death 6 interacting protein (PDCD6IP, also known as ALIX), which also functions in the ESCRT pathway. The CHMP4 proteins assemble into membrane-attached 5-nm filaments that form circular scaffolds and promote or stabilize outward budding. These polymers are proposed to help generate the luminal vesicles of multivesicular bodies. Mutations in this gene result in autosomal dominant posterior polar cataracts.[provided by RefSeq, Oct 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.522347.1, SRR3476690.263413.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000217402.3/ ENSP00000217402.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. When overexpressed, membrane-assembled circular arrays of CHMP4B filaments can promote or stabilize negative curvature and outward budding. Via its interaction with PDCD6IP involved in HIV-1 p6- and p9-dependent virus release. Probable core component of the endosomal sorting required for transport complex III (ESCRT-III). ESCRT-III components are thought to multimerize to form a flat lattice on the perimeter membrane of the endosome. Several assembly forms of ESCRT-III may exist that interact and act sequentally. Interacts with CHMP6 and CHMP4C. Interacts with PDCD6IP; the interaction is direct. Interacts with VPS4A; the interaction is direct. Interacts with VPS4B; the interaction is direct. Interacts with CHMP7. Interacts with CFTR; the interaction requires misfolded CFTR. Cytoplasm, cytosol. Late endosome membrane; Peripheral membrane protein (Probable). Widely expressed. Expressed at higher level in heart and skeletal muscle. Also expressed in brain, colon, thymus, spleen, kidney, liver, small intestine, placenta, lung and peripheral blood lymphocytes. The acidic C-terminus and the basic N-termminus are thought to render the protein in a closed, soluble and inactive conformation through an autoinhibitory intramolecular interaction. The open and active conformation, which enables membrane binding and oligomerization, is achieved by interaction with other cellular binding partners, probably including other ESCRT components. Defects in CHMP4B are the cause of cataract posterior polar type 3 (CTPP3) [MIM:605387]. A subcapsular opacity, usually disk-shaped, located at the back of the lens. It can have a marked effect on visual acuity. Its overexpression strongly inhibits HIV-1 release. Belongs to the SNF7 family. mitotic cytokinesis ESCRT III complex protein binding nucleus nuclear envelope cytoplasm endosome cytosol posttranslational protein targeting to membrane autophagy nucleus organization vacuolar transport mitotic metaphase plate congression cytoplasmic side of plasma membrane exit from mitosis regulation of autophagy regulation of centrosome duplication protein transport membrane endosomal transport macroautophagy viral life cycle membrane coat midbody nuclear envelope reassembly late endosome membrane vesicle multivesicular body assembly maintenance of lens transparency viral budding via host ESCRT complex identical protein binding protein homodimerization activity cadherin binding viral budding regulation of viral process protein homooligomerization negative regulation of cell death extracellular exosome membrane fission ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway negative regulation of neuron death regulation of mitotic spindle assembly positive regulation of viral release from host cell negative regulation of autophagosome assembly uc002xaa.1 uc002xaa.2 uc002xaa.3 uc002xaa.4 uc002xaa.5 
ENST00000217407.3 LBP ENST00000217407.3 Homo sapiens lipopolysaccharide binding protein (LBP), mRNA. (from RefSeq NM_004139) B2R938 ENST00000217407.1 ENST00000217407.2 LBP_HUMAN NM_004139 O43438 P18428 Q92672 Q9H403 Q9UD66 uc002xic.1 uc002xic.2 uc002xic.3 uc002xic.4 The protein encoded by this gene is involved in the acute-phase immunologic response to gram-negative bacterial infections. Gram-negative bacteria contain a glycolipid, lipopolysaccharide (LPS), on their outer cell wall. Together with bactericidal permeability-increasing protein (BPI), the encoded protein binds LPS and interacts with the CD14 receptor, probably playing a role in regulating LPS-dependent monocyte responses. Studies in mice suggest that the encoded protein is necessary for the rapid acute-phase response to LPS but not for the clearance of LPS from circulation. This protein is part of a family of structurally and functionally related proteins, including BPI, plasma cholesteryl ester transfer protein (CETP), and phospholipid transfer protein (PLTP). [provided by RefSeq, Apr 2012]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189652.89550.1, SRR5189664.106705.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000217407.3/ ENSP00000217407.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds to the lipid A moiety of bacterial lipopolysaccharides (LPS), a glycolipid present in the outer membrane of all Gram-negative bacteria. The LBP/LPS complex seems to interact with the CD14 receptor. Q13162:PRDX4; NbExp=4; IntAct=EBI-3927059, EBI-2211957; Secreted. Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family. lipopolysaccharide binding toll-like receptor signaling pathway leukocyte chemotaxis involved in inflammatory response macrophage activation involved in immune response immune system process receptor binding protein binding extracellular region extracellular space lipid transport acute-phase response cellular defense response opsonization lipid binding cell surface lipopolysaccharide transport membrane cytokine-mediated signaling pathway lipopolysaccharide-mediated signaling pathway detection of molecule of bacterial origin response to lipopolysaccharide negative regulation of tumor necrosis factor production positive regulation of chemokine production positive regulation of interleukin-6 production positive regulation of interleukin-8 production positive regulation of tumor necrosis factor production macromolecule localization toll-like receptor 4 signaling pathway positive regulation of toll-like receptor 4 signaling pathway positive regulation of tumor necrosis factor biosynthetic process defense response to bacterium positive regulation of macrophage activation innate immune response positive regulation of cytolysis defense response to Gram-negative bacterium defense response to Gram-positive bacterium positive regulation of respiratory burst involved in inflammatory response extracellular exosome lipoteichoic acid binding cellular response to lipopolysaccharide cellular response to lipoteichoic acid lipopeptide binding positive regulation of neutrophil chemotaxis uc002xic.1 uc002xic.2 uc002xic.3 uc002xic.4 
ENST00000217420.2 SLC32A1 ENST00000217420.2 Homo sapiens solute carrier family 32 member 1 (SLC32A1), mRNA. (from RefSeq NM_080552) ENST00000217420.1 NM_080552 Q8N489 Q9H598 VGAT VIAAT VIAAT_HUMAN uc002xjc.1 uc002xjc.2 uc002xjc.3 uc002xjc.4 The protein encoded by this gene is an integral membrane protein involved in gamma-aminobutyric acid (GABA) and glycine uptake into synaptic vesicles. The encoded protein is a member of amino acid/polyamine transporter family II. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK055051.1, SRR3476690.433362.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145743, SAMEA2153733 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000217420.2/ ENSP00000217420.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in the uptake of GABA and glycine into the synaptic vesicles. Cytoplasmic vesicle membrane; Multi-pass membrane protein (By similarity). Retina. Expressed throughout the horizontal cells or more specifically at the terminals. Belongs to the amino acid/polyamine transporter 2 family. Sequence=AAH36458.2; Type=Erroneous initiation; amino acid transmembrane transport plasma membrane ion transport neurotransmitter transport neurotransmitter secretion aging synaptic vesicle amino acid transmembrane transporter activity glycine transmembrane transporter activity gamma-aminobutyric acid:proton symporter activity gamma-aminobutyric acid transport glycine transport membrane integral component of membrane hippocampus development integral component of synaptic vesicle membrane dendrite cytoplasmic vesicle membrane synaptic vesicle membrane cytoplasmic vesicle neuron projection intracellular organelle dendrite terminus neuron projection terminus cone cell pedicle synapse presynaptic active zone cell tip inhibitory synapse clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane neurotransmitter loading into synaptic vesicle GABA-ergic synapse uc002xjc.1 uc002xjc.2 uc002xjc.3 uc002xjc.4 
ENST00000217423.4 CST4 ENST00000217423.4 Homo sapiens cystatin S (CST4), mRNA. (from RefSeq NM_001899) CYTS_HUMAN ENST00000217423.1 ENST00000217423.2 ENST00000217423.3 NM_001899 P01036 Q9UBI5 Q9UCS9 uc002wto.1 uc002wto.2 uc002wto.3 The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a type 2 salivary cysteine peptidase inhibitor. The protein is an S-type cystatin, based on its high level of expression in saliva, tears and seminal plasma. The specific role in these fluids is unclear but antibacterial and antiviral activity is present, consistent with a protective function. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X54667.1, BP333642.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## This protein strongly inhibits papain and ficin, partially inhibits stem bromelain and bovine cathepsin C, but does not inhibit porcine cathepsin B or clostripain. Papain is inhibited non-competitively. Secreted. Expressed in submandibular and sublingual saliva but not in parotid saliva (at protein level). Expressed in saliva, tears, urine and seminal fluid. Phosphorylated at both its N- and C-terminal regions. Mass=14175.8569; Mass_error=0.0564; Method=Electrospray; Range=21-141; Source=PubMed:20189825; Mass=14255.8567; Mass_error=0.0899; Method=Electrospray; Range=21-141; Note=Monophosphorylated at Ser- 23, also called form S1; Source=PubMed:20189825; Mass=14335.811; Mass_error=0.0775; Method=Electrospray; Range=21-141; Note=Diphosphorylated at Ser-21 and Ser-23, also called form S2; Source=PubMed:20189825; Belongs to the cystatin family. detection of chemical stimulus involved in sensory perception of bitter taste retina homeostasis cysteine-type endopeptidase inhibitor activity extracellular region extracellular space negative regulation of peptidase activity negative regulation of endopeptidase activity peptidase inhibitor activity negative regulation of proteolysis extracellular exosome uc002wto.1 uc002wto.2 uc002wto.3 
ENST00000217426.7 AHCY ENST00000217426.7 Homo sapiens adenosylhomocysteinase (AHCY), transcript variant 6, mRNA. (from RefSeq NM_001362750) A8K307 E1P5P2 ENST00000217426.1 ENST00000217426.2 ENST00000217426.3 ENST00000217426.4 ENST00000217426.5 ENST00000217426.6 NM_001362750 P23526 Q96A36 SAHH SAHH_HUMAN uc002xai.1 uc002xai.2 uc002xai.3 uc002xai.4 uc002xai.5 S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. It catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DRR138525.461807.1, SRR1163658.64733.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## Adenosylhomocysteine is a competitive inhibitor of S- adenosyl-L-methionine-dependent methyl transferase reactions; therefore adenosylhomocysteinase may play a key role in the control of methylations via regulation of the intracellular concentration of adenosylhomocysteine. S-adenosyl-L-homocysteine + H(2)O = L- homocysteine + adenosine. Binds 1 NAD per subunit. Amino-acid biosynthesis; L-homocysteine biosynthesis; L- homocysteine from S-adenosyl-L-homocysteine: step 1/1. Homotetramer. Cytoplasm. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Defects in AHCY are the cause of hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]. A metabolic disorder characterized by hypermethioninemia associated with failure to thrive, mental and motor retardation, facial dysmorphism with abnormal hair and teeth, and myocardiopathy. Belongs to the adenosylhomocysteinase family. sulfur amino acid metabolic process response to hypoxia chronic inflammatory response to antigenic stimulus adenosylhomocysteinase activity protein binding nucleus cytoplasm cytosol one-carbon metabolic process response to nutrient hydrolase activity S-adenosylhomocysteine catabolic process adenyl nucleotide binding methylation S-adenosylmethionine cycle melanosome circadian sleep/wake cycle identical protein binding neuron projection NAD binding extracellular exosome uc002xai.1 uc002xai.2 uc002xai.3 uc002xai.4 uc002xai.5 
ENST00000217428.7 SPINT3 ENST00000217428.7 Homo sapiens serine peptidase inhibitor, Kunitz type 3 (SPINT3), mRNA. (from RefSeq NM_006652) A6NCQ6 ENST00000217428.1 ENST00000217428.2 ENST00000217428.3 ENST00000217428.4 ENST00000217428.5 ENST00000217428.6 NM_006652 P49223 Q6UDR8 Q96KK2 SPIT3_HUMAN uc010ghg.1 uc010ghg.2 Secreted (Probable). Contains 1 BPTI/Kunitz inhibitor domain. serine-type endopeptidase inhibitor activity extracellular region negative regulation of peptidase activity negative regulation of endopeptidase activity peptidase inhibitor activity negative regulation of transforming growth factor beta receptor signaling pathway receptor antagonist activity transforming growth factor beta binding negative regulation of receptor activity uc010ghg.1 uc010ghg.2 
ENST00000217446.8 PIGU ENST00000217446.8 Homo sapiens phosphatidylinositol glycan anchor biosynthesis class U (PIGU), mRNA. (from RefSeq NM_080476) CDC91L1 ENST00000217446.1 ENST00000217446.2 ENST00000217446.3 ENST00000217446.4 ENST00000217446.5 ENST00000217446.6 ENST00000217446.7 NM_080476 PIGU_HUMAN PSEC0205 Q7Z489 Q8N2F2 Q9H490 UNQ3055/PRO9875 uc002xas.1 uc002xas.2 uc002xas.3 uc002xas.4 uc002xas.5 The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY422169.1, BC030512.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## Component of the GPI transamidase complex. May be involved in the recognition of either the GPI attachment signal or the lipid portion of GPI. Glycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis. Forms a complex with PIGK/GPI8, PIGS, PIGT and GPAA1/GAA1. Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H490-1; Sequence=Displayed; Name=2; IsoId=Q9H490-2; Sequence=VSP_009543; Note=No experimental confirmation available; Belongs to the PIGU family. endoplasmic reticulum endoplasmic reticulum membrane plasma membrane GPI anchor biosynthetic process membrane integral component of membrane attachment of GPI anchor to protein integral component of endoplasmic reticulum membrane protein localization to cell surface GPI-anchor transamidase complex regulation of JAK-STAT cascade GPI-anchor transamidase activity GPI anchor binding uc002xas.1 uc002xas.2 uc002xas.3 uc002xas.4 uc002xas.5 
ENST00000217455.9 ACOT8 ENST00000217455.9 Homo sapiens acyl-CoA thioesterase 8 (ACOT8), mRNA. (from RefSeq NM_005469) ACOT8_HUMAN ACTEIII ENST00000217455.1 ENST00000217455.2 ENST00000217455.3 ENST00000217455.4 ENST00000217455.5 ENST00000217455.6 ENST00000217455.7 ENST00000217455.8 NM_005469 O14734 O15261 PTE1 PTE2 Q17RX4 uc002xqa.1 uc002xqa.2 uc002xqa.3 uc002xqa.4 The protein encoded by this gene is a peroxisomal thioesterase that appears to be involved more in the oxidation of fatty acids rather than in their formation. The encoded protein can bind to the human immunodeficiency virus-1 protein Nef, and mediate Nef-induced down-regulation of CD4 in T-cells. [provided by RefSeq, Oct 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.330817.1, SRR5189667.88385.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2152474, SAMEA2152798 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000217455.9/ ENSP00000217455.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. May mediate Nef-induced down-regulation of CD4. Major thioesterase in peroxisomes. Competes with BAAT (Bile acid CoA: amino acid N- acyltransferase) for bile acid-CoA substrate (such as chenodeoxycholoyl-CoA). Shows a preference for medium-length fatty acyl-CoAs (By similarity). May be involved in the metabolic regulation of peroxisome proliferation. Choloyl-CoA + H(2)O = cholate + CoA. Interacts with HIV-1 Nef. P04601:nef (xeno); NbExp=5; IntAct=EBI-1237371, EBI-6164028; Peroxisome. Detected in a T-cell line (at protein level). Ubiquitous. Regulated by peroxisome proliferator (such as Clofibrate), via the peroxisome proliferator-activated receptors (PPARs) (By similarity). Belongs to the C/M/P thioester hydrolase family. acetyl-CoA hydrolase activity succinyl-CoA hydrolase activity protein binding peroxisome peroxisomal matrix cytosol protein targeting to peroxisome lipid metabolic process fatty acid metabolic process acyl-CoA metabolic process bile acid biosynthetic process peroxisome organization fatty acid catabolic process viral process CoA hydrolase activity palmitoyl-CoA hydrolase activity peroxisome fission hydrolase activity fatty acid beta-oxidation using acyl-CoA oxidase choloyl-CoA hydrolase activity alpha-linolenic acid metabolic process dicarboxylic acid catabolic process negative regulation of CD4 biosynthetic process acetoacetyl-CoA hydrolase activity acyl-CoA hydrolase activity hydroxymethylglutaryl-CoA hydrolase activity carboxylic ester hydrolase activity medium-chain acyl-CoA hydrolase activity long-chain acyl-CoA hydrolase activity uc002xqa.1 uc002xqa.2 uc002xqa.3 uc002xqa.4 
ENST00000217456.3 APMAP ENST00000217456.3 Homo sapiens adipocyte plasma membrane associated protein (APMAP), mRNA. (from RefSeq NM_020531) A8K514 APMAP_HUMAN B4DXG1 C20orf3 ENST00000217456.1 ENST00000217456.2 NM_020531 Q6UVZ8 Q9GZS8 Q9HDC9 Q9NUB2 UNQ1869/PRO4305 uc002wty.1 uc002wty.2 uc002wty.3 uc002wty.4 uc002wty.5 Exhibits strong arylesterase activity with beta-naphthyl acetate and phenyl acetate. May play a role in adipocyte differentiation. Membrane; Single-pass type II membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9HDC9-1; Sequence=Displayed; Name=2; IsoId=Q9HDC9-2; Sequence=VSP_036992, VSP_036993; Liver, glomerular and tubular structures of the kidney, endothelial cells, arterial wall and pancreatic islets of Langerhans (at protein level). Found ubiquitously in adult as well as in embryonic tissues. In adult tissue, the highest expression is found in the liver, placenta and heart. Found on the cell surface of monocytes. In embryonic tissue, the highest expression levels is found in the liver and the kidney. Belongs to the strictosidine synthase family. Sequence=AAQ89435.1; Type=Erroneous initiation; Sequence=BAB11885.1; Type=Erroneous initiation; Sequence=BAB15253.1; Type=Erroneous initiation; Sequence=BAB15578.1; Type=Erroneous initiation; arylesterase activity endoplasmic reticulum biological_process biosynthetic process cell surface membrane integral component of membrane strictosidine synthase activity uc002wty.1 uc002wty.2 uc002wty.3 uc002wty.4 uc002wty.5 
ENST00000217740.4 RNF125 ENST00000217740.4 Homo sapiens ring finger protein 125 (RNF125), mRNA. (from RefSeq NM_017831) ENST00000217740.1 ENST00000217740.2 ENST00000217740.3 NM_017831 Q96EQ8 Q9NX39 RN125_HUMAN uc002kxf.1 uc002kxf.2 uc002kxf.3 This gene encodes a novel E3 ubiquitin ligase that contains a RING finger domain in the N-terminus and three zinc-binding and one ubiquitin-interacting motif in the C-terminus. As a result of myristoylation, this protein associates with membranes and is primarily localized to intracellular membrane systems. The encoded protein may function as a positive regulator in the T-cell receptor signaling pathway. [provided by RefSeq, Mar 2012]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.373170.1, SRR1660809.78201.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000217740.4/ ENSP00000217740.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## E3 ubiquitin-protein ligase that acts as a positive regulator of T-cell activation. E3 ligase proteins mediate ubiquitination and subsequent proteasomal degradation of target proteins. Protein modification; protein ubiquitination. Predominantly expressed in lymphoid tissues, including bone marrow, spleen and thymus. Also weakly expressed in other tissues. Predominant in the CD4+ and CD8+ T-cells, suggesting that it is preferentially confined to T-cells. Contains 1 RING-type zinc finger. Golgi membrane protein polyubiquitination p53 binding adaptive immune response immune system process protein binding Golgi apparatus ubiquitin-dependent protein catabolic process zinc ion binding membrane protein ubiquitination transferase activity ubiquitin conjugating enzyme binding negative regulation of type I interferon production VCP-NPL4-UFD1 AAA ATPase complex negative regulation of RIG-I signaling pathway intracellular membrane-bounded organelle metal ion binding ubiquitin protein ligase activity uc002kxf.1 uc002kxf.2 uc002kxf.3 
ENST00000217901.10 IDH3G ENST00000217901.10 Homo sapiens isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma (IDH3G), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_004135) ENST00000217901.1 ENST00000217901.2 ENST00000217901.3 ENST00000217901.4 ENST00000217901.5 ENST00000217901.6 ENST00000217901.7 ENST00000217901.8 ENST00000217901.9 IDH3G_HUMAN NM_004135 P51553 Q9BUU5 uc004fip.1 uc004fip.2 uc004fip.3 uc004fip.4 uc004fip.5 Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the gamma subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. This gene is a candidate gene for periventricular heterotopia. Several alternatively spliced transcript variants of this gene have been described, but only some of their full length natures have been determined. [provided by RefSeq, Jul 2008]. Isocitrate + NAD(+) = 2-oxoglutarate + CO(2) + NADH. Binds 1 magnesium or manganese ion per subunit (By similarity). Activated by increasing ADP/ATP ratios and by Ca(2+) (By similarity). Heterooligomer of subunits alpha, beta, and gamma in the apparent ratio of 2:1:1 (By similarity). Mitochondrion. Belongs to the isocitrate and isopropylmalate dehydrogenases family. nucleotide binding magnesium ion binding isocitrate dehydrogenase (NAD+) activity ATP binding nucleoplasm nucleolus mitochondrion mitochondrial matrix carbohydrate metabolic process tricarboxylic acid cycle isocitrate metabolic process oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor metal ion binding NAD binding oxidation-reduction process uc004fip.1 uc004fip.2 uc004fip.3 uc004fip.4 uc004fip.5 
ENST00000217909.8 SLC25A43 ENST00000217909.8 Homo sapiens solute carrier family 25 member 43 (SLC25A43), mRNA. (from RefSeq NM_145305) ENST00000217909.1 ENST00000217909.2 ENST00000217909.3 ENST00000217909.4 ENST00000217909.5 ENST00000217909.6 ENST00000217909.7 NM_145305 O75854 Q8N9L5 Q8WUT9 S2543_HUMAN uc004erd.1 uc004erd.2 uc004erd.3 uc004erd.4 uc004erd.5 This gene encodes a member of the mitochondrial carrier family of proteins.[provided by RefSeq, Dec 2009]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.385473.1, BC019584.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000217909.8/ ENSP00000217909.7 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Mitochondrion inner membrane; Multi-pass membrane protein (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8WUT9-1; Sequence=Displayed; Name=2; IsoId=Q8WUT9-2; Sequence=VSP_026245; Note=No experimental confirmation available; Belongs to the mitochondrial carrier family. Contains 3 Solcar repeats. Sequence=AAC62432.1; Type=Erroneous gene model prediction; mitochondrion mitochondrial inner membrane membrane integral component of membrane transmembrane transporter activity transmembrane transport uc004erd.1 uc004erd.2 uc004erd.3 uc004erd.4 uc004erd.5 
ENST00000217926.7 H2BW1 ENST00000217926.7 Homo sapiens H2B.W histone 1 (H2BW1), mRNA. (from RefSeq NM_001002916) B1AK72 ENST00000217926.1 ENST00000217926.2 ENST00000217926.3 ENST00000217926.4 ENST00000217926.5 ENST00000217926.6 H2BFWT H2BWT_HUMAN NM_001002916 Q147W3 Q7Z2G1 uc004elr.1 uc004elr.2 uc004elr.3 uc004elr.4 uc004elr.5 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-independent histone that is a member of the H2B histone family that is specifically expressed in sperm nuclei. A polymorphism in the 5' UTR of this gene is associated with male infertility.[provided by RefSeq, Oct 2015]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: BC038109.2, BI459475.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript replication-independent histone :: PMID: 25731851 ##RefSeq-Attributes-END## Atypical histone H2B. Nucleosomes containing it are structurally and dynamically indistinguishable from those containing conventional H2B. However, unlike conventional H2B, does not recruit chromosome condensation factors and does not participate in the assembly of mitotic chromosomes. May be important for telomere function. The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA. Nucleus membrane. Chromosome. Testis-specific. Present in sperm cells (at protein level). In contrast to other H2B histones, it does not contain the conserved residue in C-terminus that is the target of monoubiquitination. Ortholog in primates, but not in rodents. Belongs to the histone H2B family. nucleosome DNA binding nucleus chromosome nucleosome assembly membrane nuclear membrane protein heterodimerization activity uc004elr.1 uc004elr.2 uc004elr.3 uc004elr.4 uc004elr.5 
ENST00000217939.7 MXRA5 ENST00000217939.7 Homo sapiens matrix remodeling associated 5 (MXRA5), mRNA. (from RefSeq NM_015419) ENST00000217939.1 ENST00000217939.2 ENST00000217939.3 ENST00000217939.4 ENST00000217939.5 ENST00000217939.6 MXRA5_HUMAN NM_015419 Q6P1M7 Q9NR99 Q9Y3Y8 uc004crg.1 uc004crg.2 uc004crg.3 uc004crg.4 uc004crg.5 uc004crg.6 uc004crg.7 This gene encodes one of the matrix-remodelling associated proteins. This protein contains 7 leucine-rich repeats and 12 immunoglobulin-like C2-type domains related to perlecan. This gene has a pseudogene on chromosome Y. [provided by RefSeq, Mar 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The extent of this transcript is supported by transcript alignments. An in-frame AUG is located 25 codons upstream of the annotated translation start site but is not being annotated as a start site since it is poorly conserved, is in a weak Kozak sequence context, and is predicted to disrupt an N-terminal signal peptide sequence. ##Evidence-Data-START## CDS exon combination :: AF245505.1 [ECO:0000331] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: downstream AUG is associated with N-terminal localization signal MANE Ensembl match :: ENST00000217939.7/ ENSP00000217939.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Secreted (Potential). Over-expressed in centenarians. Expression is reduced from young to old but increased from old to centenarians. Contains 12 Ig-like C2-type (immunoglobulin-like) domains. Contains 7 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. Contains 1 LRRNT domain. Sequence=AAH11846.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH64986.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH80586.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; extracellular matrix structural constituent extracellular region extracellular exosome response to transforming growth factor beta uc004crg.1 uc004crg.2 uc004crg.3 uc004crg.4 uc004crg.5 uc004crg.6 uc004crg.7 
ENST00000217958.8 PSMD10 ENST00000217958.8 Homo sapiens proteasome 26S subunit, non-ATPase 10 (PSMD10), transcript variant 1, mRNA. (from RefSeq NM_002814) ENST00000217958.1 ENST00000217958.2 ENST00000217958.3 ENST00000217958.4 ENST00000217958.5 ENST00000217958.6 ENST00000217958.7 NM_002814 O75832 PSD10_HUMAN Q8IZK9 uc004enp.1 uc004enp.2 uc004enp.3 uc004enp.4 This gene encodes a subunit of the PA700/19S complex, which is the regulatory component of the 26S proteasome. The 26S proteosome complex is required for ubiquitin-dependent protein degradation. This protein is a non-ATPase subunit that may be involved in protein-protein interactions. Aberrant expression of this gene may paly a role in tumorigenesis. Two transcripts encoding different isoforms have been described. Pseudogenes have been identified on chromosomes 3 and 20.[provided by RefSeq, Mar 2011]. Acts as a chaperone during the assembly of the 26S proteasome, specifically of the PA700/19S regulatory complex (RC). In the initial step of the base subcomplex assembly is part of an intermediate PSMD10:PSMC4:PSMC5:PAAF1 module which probably assembles with a PSMD5:PSMC2:PSMC1:PSMD2 module. Acts as an proto-oncoprotein by being involved in negative regulation of tumor suppressors RB1 and p53/TP53. Overexpression is leading to phosphorylation of RB1 and proteasomal degradation of RB1. Regulates CDK4-mediated phosphorylation of RB1 by competing with CDKN2A for binding with CDK4. Facilitates binding of MDM2 to p53/TP53 and the mono- and polyubiquitination of p53/TP53 by MDM2 suggesting a function in targeting the TP53:MDM2 complex to the 26S proteasome. Involved in p53-independent apoptosis. Involved in regulation of NF-kappa-B by retaining it in the cytoplasm. Binds to the NF-kappa-B component RELA and accelerates its XPO1/CRM1-mediated nuclear export. Part of transient complex containing PSMD10, PSMC4, PSMC5 and PAAF1 formed during the assembly of the 26S proteasome. Stays associated throughout the assembly of the PA700/19S RC and is released upon association with the 20S core. Interacts with PSMC4. Interacts with RB1. Interacts with CDK4. Interacts with MDM2. Interacts with RELA. Associates with a CDK4:CCND2 serine/threonine kinase complex. P43358:MAGEA4; NbExp=5; IntAct=EBI-752185, EBI-743122; P43686:PSMC4; NbExp=8; IntAct=EBI-752185, EBI-743997; Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75832-1; Sequence=Displayed; Name=2; IsoId=O75832-2; Sequence=VSP_043043; Overexpressed in hepatocellular carcinomas. Contains 7 ANK repeats. Was initially identified as a genuine component of the 26S proteasome. negative regulation of transcription from RNA polymerase II promoter MAPK cascade protein polyubiquitination proteasome complex stimulatory C-type lectin receptor signaling pathway antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent protein binding nucleus nucleoplasm cytoplasm cytosol regulation of transcription from RNA polymerase II promoter regulation of cellular amino acid metabolic process apoptotic process cytoplasmic sequestering of NF-kappaB transcription factor binding negative regulation of G2/M transition of mitotic cell cycle protein deubiquitination positive regulation of cell growth anaphase-promoting complex-dependent catabolic process SCF-dependent proteasomal ubiquitin-dependent protein catabolic process positive regulation of protein ubiquitination negative regulation of NF-kappaB transcription factor activity positive regulation of proteasomal ubiquitin-dependent protein catabolic process tumor necrosis factor-mediated signaling pathway NIK/NF-kappaB signaling Fc-epsilon receptor signaling pathway negative regulation of apoptotic process proteasome-mediated ubiquitin-dependent protein catabolic process negative regulation of MAPK cascade regulation of mRNA stability negative regulation of DNA damage response, signal transduction by p53 class mediator post-translational protein modification intermediate filament cytoskeleton positive regulation of cyclin-dependent protein serine/threonine kinase activity T cell receptor signaling pathway transmembrane transport Wnt signaling pathway, planar cell polarity pathway regulation of transcription from RNA polymerase II promoter in response to hypoxia RNA polymerase II sequence-specific DNA binding transcription factor binding interleukin-1-mediated signaling pathway proteasome regulatory particle assembly negative regulation of canonical Wnt signaling pathway negative regulation of release of cytochrome c from mitochondria positive regulation of canonical Wnt signaling pathway regulation of mitotic cell cycle phase transition regulation of hematopoietic stem cell differentiation proteasome regulatory particle, base subcomplex uc004enp.1 uc004enp.2 uc004enp.3 uc004enp.4 
ENST00000217971.8 PGRMC1 ENST00000217971.8 Homo sapiens progesterone receptor membrane component 1 (PGRMC1), transcript variant 1, mRNA. (from RefSeq NM_006667) ENST00000217971.1 ENST00000217971.2 ENST00000217971.3 ENST00000217971.4 ENST00000217971.5 ENST00000217971.6 ENST00000217971.7 NM_006667 Q6IB11 Q6IB11_HUMAN hCG_23188 uc004erb.1 uc004erb.2 uc004erb.3 uc004erb.4 uc004erb.5 uc004erb.6 This gene encodes a putative membrane-associated progesterone steroid receptor. The protein is expressed predominantly in the liver and kidney. [provided by RefSeq, Mar 2010]. protein binding membrane integral component of membrane uc004erb.1 uc004erb.2 uc004erb.3 uc004erb.4 uc004erb.5 uc004erb.6 
ENST00000217999.3 RHOXF1 ENST00000217999.3 Homo sapiens Rhox homeobox family member 1 (RHOXF1), mRNA. (from RefSeq NM_139282) ENST00000217999.1 ENST00000217999.2 NM_139282 O95030 OTEX PEPP1 Q3SYE0 Q8NHV9 RHXF1_HUMAN uc004esk.1 uc004esk.2 uc004esk.3 This gene is a member of the PEPP subfamily of paired-like homoebox genes. The gene may be regulated by androgens and epigenetic mechanisms. The encoded nuclear protein is likely a transcription factor that may play a role in human reproduction. [provided by RefSeq, Dec 2012]. ##Evidence-Data-START## Transcript exon combination :: BC069529.1, AY099086.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000217999.3/ ENSP00000217999.1 RefSeq Select criteria :: based on expression ##RefSeq-Attributes-END## May be a transcription factor involved in reproductive processes. Does not interact with itself. Nucleus. Ovary, testis and epididymis. Also detected in the prostate and the mammary gland. Expressed in many tumor cell lines derived from acute lymphocytic leukemia, prostate, endometrial adenocarcinoma, melanoma, bladder carcinoma, colon carcinoma, erythroleukemia and breast carcinoma. Not expressed in placenta. By androgen. Mutagenesis of amino acids 147 to 164 and 155 to 164 lead to a major cytoplasmic localization, with only minor localization in the nucleus. Belongs to the paired-like homeobox family. PEPP subfamily. Contains 1 homeobox DNA-binding domain. Sequence=AAC78617.1; Type=Erroneous gene model prediction; nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development gamete generation positive regulation of gene expression sexual reproduction intracellular steroid hormone receptor signaling pathway sequence-specific DNA binding uc004esk.1 uc004esk.2 uc004esk.3 
ENST00000218006.3 GUCY2F ENST00000218006.3 Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA. (from RefSeq NM_001522) ENST00000218006.1 ENST00000218006.2 GUC2F GUC2F_HUMAN NM_001522 P51841 Q9UJF1 RETGC2 uc065aqx.1 uc065aqx.2 The protein encoded by this gene is a guanylyl cyclase found predominantly in photoreceptors in the retina. The encoded protein is thought to be involved in resynthesis of cGMP after light activation of the visual signal transduction cascade, allowing a return to the dark state. This protein is a single-pass type I membrane protein. Defects in this gene may be a cause of X-linked retinitis pigmentosa. [provided by RefSeq, Dec 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no transcript sequence was available to make the entire refseq consistent with the reference genome assembly. The extent of this transcript is supported by transcript alignments. ##Evidence-Data-START## Transcript exon combination :: L37378.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA2161674 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000218006.3/ ENSP00000218006.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction. GTP = 3',5'-cyclic GMP + diphosphate. Activated by GCAP-1; inhibited by calcium. Membrane; Single-pass type I membrane protein. Retina. Localized exclusively in the outer nuclear layer and inner segments of the rod and cone photoreceptor cells. The protein kinase domain is predicted to be catalytically inactive. There are 9 conserved cysteine residues in sensory guanylate cyclases, 6 in the extracellular domain, which may be involved in intra- or interchain disulfide bonds. Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. Contains 1 guanylate cyclase domain. Contains 1 protein kinase domain. Name=Mutations of the GUCY2F gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/gcmut.htm"; nucleotide binding peptide receptor activity guanylate cyclase activity protein kinase activity ATP binding GTP binding nuclear outer membrane plasma membrane integral component of plasma membrane cGMP biosynthetic process protein phosphorylation signal transduction receptor guanylyl cyclase signaling pathway visual perception cyclic nucleotide biosynthetic process membrane integral component of membrane lyase activity phosphorus-oxygen lyase activity natriuretic peptide receptor activity peptide hormone binding cGMP-mediated signaling regulation of rhodopsin mediated signaling pathway intracellular signal transduction signaling receptor activity protein homodimerization activity protein heterodimerization activity response to stimulus detection of light stimulus involved in visual perception photoreceptor disc membrane uc065aqx.1 uc065aqx.2 
ENST00000218032.7 TLR8 ENST00000218032.7 Homo sapiens toll like receptor 8 (TLR8), transcript variant 2, mRNA. (from RefSeq NM_138636) B3Y654 ENST00000218032.1 ENST00000218032.2 ENST00000218032.3 ENST00000218032.4 ENST00000218032.5 ENST00000218032.6 NM_138636 Q495P4 Q6UXL6 Q9NR97 Q9NYG9 TLR8_HUMAN UNQ249/PRO286 uc004cve.1 uc004cve.2 uc004cve.3 uc004cve.4 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is predominantly expressed in lung and peripheral blood leukocytes, and lies in close proximity to another family member, TLR7, on chromosome X. [provided by RefSeq, Jul 2008]. Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. Interacts with MYD88 via their respective TIR domains. Interacts with UNC93B1 (By similarity). Interacts with BTK. Membrane; Single-pass type I membrane protein (By similarity). Detected in brain, heart, lung, liver, placenta, in monocytes, and at lower levels in CD11c+ immature dendritic cells. Belongs to the Toll-like receptor family. Contains 23 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. Contains 1 TIR domain. Golgi membrane microglial cell activation regulation of protein phosphorylation toll-like receptor signaling pathway immune system process MyD88-dependent toll-like receptor signaling pathway DNA binding RNA binding double-stranded RNA binding single-stranded RNA binding transmembrane signaling receptor activity endoplasmic reticulum membrane plasma membrane inflammatory response immune response signal transduction I-kappaB kinase/NF-kappaB signaling drug binding signaling pattern recognition receptor activity response to virus external side of plasma membrane endosome membrane membrane integral component of membrane immunoglobulin mediated immune response positive regulation of interleukin-6 production toll-like receptor 8 signaling pathway toll-like receptor 9 signaling pathway endolysosome membrane signaling receptor activity identical protein binding positive regulation of interferon-gamma biosynthetic process innate immune response positive regulation of innate immune response positive regulation of interferon-alpha biosynthetic process positive regulation of interferon-beta biosynthetic process positive regulation of interleukin-8 biosynthetic process regulation of cytokine secretion positive regulation of interleukin-1 beta secretion defense response to virus cellular response to mechanical stimulus positive regulation of interleukin-6 secretion negative regulation of interleukin-12 secretion uc004cve.1 uc004cve.2 uc004cve.3 uc004cve.4 
ENST00000218068.7 PAGE4 ENST00000218068.7 Homo sapiens PAGE family member 4 (PAGE4), transcript variant 1, mRNA. (from RefSeq NM_007003) B2R529 D3DX68 ENST00000218068.1 ENST00000218068.2 ENST00000218068.3 ENST00000218068.4 ENST00000218068.5 ENST00000218068.6 GAGC1_HUMAN GAGEC1 JM27 NM_007003 O60829 Q6IBI1 uc004don.1 uc004don.2 uc004don.3 uc004don.4 This gene is a member of the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in prostate and prostate cancer. It is also expressed in other male and female reproductive tissues including testis, fallopian tube, uterus, and placenta, as well as in testicular cancer and uterine cancer. The protein encoded by this gene shares sequence similarity with other GAGE/PAGE proteins, and also belongs to a family of CT (cancer-testis) antigens. The protein may play a role in benign and malignant prostate diseases. A related pseudogene is located on chromosome 7. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. Preferentially expressed in normal male and female reproductive tissues, prostate, testis, fallopian tube, uterus, and placenta, as well as in prostate cancer, testicular cancer, and uterine cancer. Belongs to the GAGE family. molecular_function DNA binding transcription coactivator activity protein binding cellular_component nucleus cytoplasm mitochondrion response to oxidative stress biological_process regulation of stress-activated MAPK cascade response to starvation negative regulation of apoptotic process negative regulation of oxidative stress-induced cell death negative regulation of reactive oxygen species biosynthetic process positive regulation of nucleic acid-templated transcription uc004don.1 uc004don.2 uc004don.3 uc004don.4 
ENST00000218075.9 GLRA2 ENST00000218075.9 Homo sapiens glycine receptor alpha 2 (GLRA2), transcript variant 1, mRNA. (from RefSeq NM_002063) A8K0J6 B2R6I8 ENST00000218075.1 ENST00000218075.2 ENST00000218075.3 ENST00000218075.4 ENST00000218075.5 ENST00000218075.6 ENST00000218075.7 ENST00000218075.8 GLRA2_HUMAN NM_002063 P23416 Q53YX7 Q6ICQ0 Q99862 uc010neq.1 uc010neq.2 uc010neq.3 uc010neq.4 uc010neq.5 The glycine receptor consists of two subunits, alpha and beta, and acts as a pentamer. The protein encoded by this gene is an alpha subunit and can bind strychnine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]. The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing). Pentamer composed of alpha and beta subunits. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=Alpha-2*; IsoId=P23416-1; Sequence=Displayed; Name=Alpha-2B; IsoId=P23416-2; Sequence=VSP_000082; The alpha subunit binds strychnine. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA2 sub- subfamily. transmembrane signaling receptor activity ion channel activity extracellular ligand-gated ion channel activity chloride channel activity plasma membrane integral component of plasma membrane ion transport chloride transport signal transduction neuropeptide signaling pathway chemical synaptic transmission membrane integral component of membrane glycine binding extracellular-glycine-gated chloride channel activity transmitter-gated ion channel activity glycine-gated chloride ion channel activity cell junction ion transmembrane transport chloride channel complex regulation of membrane potential cell projection neuron projection response to amino acid synapse postsynaptic membrane metal ion binding neurological system process synaptic transmission, glycinergic regulation of postsynaptic membrane potential excitatory postsynaptic potential cellular response to amino acid stimulus cellular response to zinc ion cellular response to ethanol chloride transmembrane transport transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential uc010neq.1 uc010neq.2 uc010neq.3 uc010neq.4 uc010neq.5 
ENST00000218099.7 F9 ENST00000218099.7 Homo sapiens coagulation factor IX (F9), transcript variant 1, mRNA. (from RefSeq NM_000133) A8K9N4 ENST00000218099.1 ENST00000218099.2 ENST00000218099.3 ENST00000218099.4 ENST00000218099.5 ENST00000218099.6 F2RM36 FA9_HUMAN NM_000133 P00740 Q5JYJ8 uc004fas.1 uc004fas.2 uc004fas.3 This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Sep 2015]. Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood coagulation by converting factor X to its active form in the presence of Ca(2+) ions, phospholipids, and factor VIIIa. Selective cleavage of Arg-|-Ile bond in factor X to form factor Xa. Heterodimer of a light chain and a heavy chain; disulfide-linked. Secreted. Synthesized primarily in the liver and secreted in plasma. Calcium binds to the gamma-carboxyglutamic acid (Gla) residues and, with stronger affinity, to another site, beyond the Gla domain. Activated by factor XIa, which excises the activation peptide. The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains. Defects in F9 are the cause of recessive X-linked hemophilia B (HEMB) [MIM:306900]; also known as Christmas disease. Note=Mutations in position 43 (Oxford-3, San Dimas) and 46 (Cambridge) prevents cleavage of the propeptide, mutation in position 93 (Alabama) probably fails to bind to cell membranes, mutation in position 191 (Chapel-Hill) or in position 226 (Nagoya OR Hilo) prevent cleavage of the activation peptide. Defects in F9 are the cause of thrombophilia due to factor IX defect (THPH8) [MIM:300807]. A hemostatic disorder characterized by a tendency to thrombosis. Available under the name BeneFix (Baxter and American Home Products). Used to treat hemophilia B. In 1952, one of the earliest researchers of the disease, Dr. R.G. Macfarlane used the patient's surname, Christmas, to refer to the disease and also to refer to the clotting factor which he called the 'Christmas Factor' At the time Stephen Christmas was a 5-year-old boy. He died in 1993 at the age of 46 from acquired immunodeficiency syndrome contracted through treatment with blood products. Belongs to the peptidase S1 family. Contains 2 EGF-like domains. Contains 1 Gla (gamma-carboxy-glutamate) domain. Contains 1 peptidase S1 domain. Name=Wikipedia; Note=Factor IX entry; URL="http://en.wikipedia.org/wiki/Factor_IX"; Name=HAEMB; Note=Hemophilia B mutation database; URL="http://www.kcl.ac.uk/ip/petergreen/haemBdatabase.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/F9"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/f9/"; Name=BeneFix; Note=Clinical information on BeneFix; URL="http://www.wyeth.com/products/benefix.asp"; Name=Protein Spotlight; Note=The Christmas Factor - Issue 41 of December 2003; URL="http://web.expasy.org/spotlight/back_issues/sptlt041.shtml"; endopeptidase activity serine-type endopeptidase activity calcium ion binding protein binding extracellular region extracellular space endoplasmic reticulum lumen Golgi lumen plasma membrane proteolysis ER to Golgi vesicle-mediated transport blood coagulation blood coagulation, intrinsic pathway hemostasis peptidase activity serine-type peptidase activity hydrolase activity zymogen activation metal ion binding extracellular exosome uc004fas.1 uc004fas.2 uc004fas.3 
ENST00000218104.6 ABCD1 ENST00000218104.6 Homo sapiens ATP binding cassette subfamily D member 1 (ABCD1), mRNA. (from RefSeq NM_000033) ABCD1_HUMAN ALD ENST00000218104.1 ENST00000218104.2 ENST00000218104.3 ENST00000218104.4 ENST00000218104.5 NM_000033 P33897 Q6GTZ2 uc004fif.1 uc004fif.2 uc004fif.3 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC025358.1, Z21876.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000218104.6/ ENSP00000218104.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity. Can form homodimers and heterodimers with ABCD2/ALDR and ABCD3/PMP70. Dimerization is necessary to form an active transporter. Interacts with PEX19. Self; NbExp=2; IntAct=EBI-81045, EBI-81045; P48410:Abcd1 (xeno); NbExp=2; IntAct=EBI-81045, EBI-81118; P28288:ABCD3; NbExp=2; IntAct=EBI-81045, EBI-80992; Peroxisome membrane; Multi-pass membrane protein. Defects in ABCD1 are the cause of adrenoleukodystrophy X- linked (X-ALD) [MIM:300100]. X-ALD is a peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO) phenotype. Note=The promoter region of ABCD1 is deleted in the chromosome Xq28 deletion syndrome which involves ABCD1 and the neighboring gene BCAP31. Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily. Contains 1 ABC transmembrane type-1 domain. Contains 1 ABC transporter domain. Name=X-ALD gene mutation database; URL="http://www.x-ald.nl/"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCD1"; Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=P33897"; very long-chain fatty acid metabolic process nucleotide binding regulation of oxidative phosphorylation long-chain fatty acid transporter activity protein binding ATP binding cytoplasm mitochondrion lysosome lysosomal membrane peroxisome peroxisomal membrane integral component of peroxisomal membrane endoplasmic reticulum endoplasmic reticulum membrane cytosol fatty acid beta-oxidation peroxisome organization fatty-acyl-CoA transporter activity peroxisomal long-chain fatty acid import fatty-acyl-CoA transport peroxisomal membrane transport membrane integral component of membrane ATPase activity enzyme binding fatty acid elongation mitochondrial membrane regulation of fatty acid beta-oxidation positive regulation of fatty acid beta-oxidation fatty acid beta-oxidation using acyl-CoA oxidase alpha-linolenic acid metabolic process very long-chain fatty-acyl-CoA catabolic process ATPase activity, coupled to transmembrane movement of substances long-chain fatty acid catabolic process very long-chain fatty acid catabolic process identical protein binding protein homodimerization activity myelin maintenance ADP binding linoleic acid metabolic process perinuclear region of cytoplasm regulation of mitochondrial depolarization transmembrane transport fatty acid homeostasis sterol homeostasis negative regulation of cytokine production involved in inflammatory response regulation of cellular response to oxidative stress negative regulation of reactive oxygen species biosynthetic process neuron projection maintenance positive regulation of unsaturated fatty acid biosynthetic process uc004fif.1 uc004fif.2 uc004fif.3 
ENST00000218176.4 KCND1 ENST00000218176.4 Homo sapiens potassium voltage-gated channel subfamily D member 1 (KCND1), mRNA. (from RefSeq NM_004979) B2RCG0 ENST00000218176.1 ENST00000218176.2 ENST00000218176.3 KCND1_HUMAN NM_004979 O75671 Q9NSA2 uc004dlx.1 uc004dlx.2 uc004dlx.3 This gene encodes a multipass membrane protein that comprises the pore subunit of the voltage-gated A-type potassium channel, which functions in the repolarization of membrane action potentials. Activity of voltage-gated potassium channels is important in a number of physiological processes, among them the regulation of neurotransmitter release, heart rate, insulin secretion, and smooth muscle contraction. [provided by RefSeq, Aug 2013]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC045659.1, AB021865.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000218176.4/ ENSP00000218176.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by interactions with other alpha subunits and with regulatory subunits. Homotetramer or heterotetramer with KCND2 and/or KCND3. Associates with the regulatory subunits KCNIP1, KCNIP2, KCNIP3 and KCNIP4 (By similarity). Interacts with DPP10 (Probable). Membrane; Multi-pass membrane protein. Cell projection, dendrite (By similarity). Widely expressed. Highly expressed in brain, in particular in cerebellum and thalamus; detected at lower levels in the other parts of the brain. The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Belongs to the potassium channel family. D (Shal) (TC 1.A.1.2) subfamily. Kv4.1/KCND1 sub-subfamily. ion channel activity voltage-gated ion channel activity voltage-gated potassium channel activity A-type (transient outward) potassium channel activity potassium channel activity cellular_component plasma membrane ion transport potassium ion transport voltage-gated potassium channel complex membrane integral component of membrane dendrite regulation of ion transmembrane transport cell projection neuronal cell body metal ion binding protein homooligomerization transmembrane transport cardiac conduction potassium ion transmembrane transport uc004dlx.1 uc004dlx.2 uc004dlx.3 
ENST00000218230.6 PCSK1N ENST00000218230.6 Homo sapiens proprotein convertase subtilisin/kexin type 1 inhibitor (PCSK1N), mRNA. (from RefSeq NM_013271) ENST00000218230.1 ENST00000218230.2 ENST00000218230.3 ENST00000218230.4 ENST00000218230.5 NM_013271 PCSK1_HUMAN Q4VC04 Q9UHG2 uc004dkz.1 uc004dkz.2 uc004dkz.3 uc004dkz.4 uc004dkz.5 uc004dkz.6 uc004dkz.7 The protein encoded by this gene functions as an inhibitor of prohormone convertase 1, which regulates the proteolytic cleavage of neuroendocrine peptide precursors. The proprotein is further processed into multiple short peptides. A polymorphism within this gene may be associated with obesity. [provided by RefSeq, Aug 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC094731.1, BX459856.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000218230.6/ ENSP00000218230.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May function in the control of the neuroendocrine secretory pathway. Proposed be a specific endogenous inhibitor of PCSK1. ProSAAS and Big PEN-LEN, both containing the C-terminal inhibitory domain, but not the further processed peptides reduce PCSK1 activity in the endoplasmic reticulum and Golgi. It reduces the activity of the 84 kDa form but not the autocatalytically derived 66 kDa form of PCSK1. Subsequent processing of proSAAS may eliminate the inhibition. Slows down convertase-mediated processing of proopiomelanocortin and proenkephalin. May control the intracellular timing of PCSK1 rather than its total level of activity. The function of the processed secreted peptides is not known (By similarity). Interacts via the C-terminal inhibitory domain with PCSK1 66 kDa form (By similarity). Secreted (By similarity). Golgi apparatus, trans-Golgi network (By similarity). Note=A N-terminal processed peptide, probably Big SAAS or Little SAAS, is accumulated in cytoplasmic protein tau deposits in frontotemporal dementia and parkinsonism linked to chromosome 17 (Pick disease), Alzheimer disease and amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 (Guam disease). Expressed in brain and pancreas. ProSAAS(1-180) increases secretion of enzymatically inactive PCSK1 (By similarity). The C-terminal inhibitory domain is involved in inhibition of PCSK1. It corresponds to the probable processing intermediate Big PEN-LEN, binds to PCSK1 in vitro and contains the hexapeptide L-L-R-V-K-R, which, as a synthetic peptide, is sufficient for PCSK1 inhibition (By similarity). Proteolytically cleaved in the Golgi. O-glycosylated with a core 1 or possibly core 8 glycan. response to dietary excess endopeptidase inhibitor activity serine-type endopeptidase inhibitor activity receptor binding extracellular region extracellular space Golgi apparatus trans-Golgi network neuropeptide signaling pathway response to cold negative regulation of endopeptidase activity peptide hormone processing secretory granule uc004dkz.1 uc004dkz.2 uc004dkz.3 uc004dkz.4 uc004dkz.5 uc004dkz.6 uc004dkz.7 
ENST00000218249.7 RAB40AL ENST00000218249.7 Homo sapiens RAB40A like (RAB40AL), mRNA. (from RefSeq NM_001031834) ENST00000218249.1 ENST00000218249.2 ENST00000218249.3 ENST00000218249.4 ENST00000218249.5 ENST00000218249.6 NM_001031834 P0C0E4 Q495H3 RB40L_HUMAN RLGP uc004ejs.1 uc004ejs.2 uc004ejs.3 uc004ejs.4 uc004ejs.5 This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. Disruptions in this gene are associated with Duchenne muscular dystrophy. [provided by RefSeq, Apr 2010]. ##Evidence-Data-START## Transcript is intronless :: BC101169.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000218249.7/ ENSP00000218249.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (By similarity). Protein modification; protein ubiquitination. Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Mitochondrion. Expressed in brain, heart, skeletal muscle, kidney and liver. Highest expression in brain. The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes (By similarity). Belongs to the small GTPase superfamily. Rab family. Contains 1 SOCS box domain. nucleotide binding GTPase activity GTP binding cytoplasm mitochondrion endosome plasma membrane intracellular protein transport synaptic vesicle membrane protein ubiquitination Rab protein signal transduction intracellular signal transduction protein localization to plasma membrane uc004ejs.1 uc004ejs.2 uc004ejs.3 uc004ejs.4 uc004ejs.5 
ENST00000218316.4 GPR50 ENST00000218316.4 Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA. (from RefSeq NM_004224) ENST00000218316.1 ENST00000218316.2 ENST00000218316.3 MTR1L_HUMAN NM_004224 Q0VGG3 Q13585 Q3ZAR0 uc010ntg.1 uc010ntg.2 uc010ntg.3 uc010ntg.4 This gene product belongs to the G-protein coupled receptor 1 family. Even though this protein shares similarity with the melatonin receptors, it does not bind melatonin, however, it inhibits melatonin receptor 1A function through heterodimerization. Polymorphic variants of this gene have been associated with bipolar affective disorder in women. [provided by RefSeq, Jan 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U52219.1, BC103696.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142680, SAMEA2149876 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000218316.4/ ENSP00000218316.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Does not bind melatonin. Homodimer, and heterodimer with MTNR1A and MTNR1B. Cell membrane; Multi-pass membrane protein. Hypothalamus and pituitary. Belongs to the G-protein coupled receptor 1 family. G-protein coupled receptor activity protein binding nucleoplasm plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway cell-cell signaling melatonin receptor activity membrane integral component of membrane identical protein binding uc010ntg.1 uc010ntg.2 uc010ntg.3 uc010ntg.4 
ENST00000218340.4 RP2 ENST00000218340.4 Homo sapiens RP2 activator of ARL3 GTPase (RP2), mRNA. (from RefSeq NM_006915) ENST00000218340.1 ENST00000218340.2 ENST00000218340.3 NM_006915 O75695 Q86XJ7 Q9NU67 XRP2_HUMAN uc004dgw.1 uc004dgw.2 uc004dgw.3 uc004dgw.4 uc004dgw.5 uc004dgw.6 The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC043348.2, SRR1660803.127077.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000218340.4/ ENSP00000218340.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane. Involved in localization of proteins, such as NPHP3, to the cilium membrane by inducing hydrolysis of GTP ARL3, leading to the release of UNC119 (or UNC119B). Acts as a GTPase-activating protein (GAP) for tubulin in concert with tubulin-specific chaperone C, but does not enhance tubulin heterodimerization. Acts as guanine nucleotide dissociation inhibitor towards ADP-ribosylation factor-like proteins. Found in a complex with ARL3, RP2 and UNC119 (or UNC119B); RP2 induces hydrolysis of GTP ARL3 in the complex, leading to the release of UNC119 (or UNC119B). Interacts with ARL3; interaction is direct and stimulated with the activated GTP- bound form of ARL3. Cell membrane; Lipid-anchor; Cytoplasmic side. Cell projection, cilium. Note=Detected predominantly to the plasma membrane of rod and cone photoreceptors. Not detected in the nucleus. Ubiquitous. Expressed in the rod and cone photoreceptors, extending from the tips of the outer segment (OS) through the inner segment (IS) and outer nuclear layer (ONL) and into the synaptic terminals of the outer plexiform layer (ONL). Also detected in the bipolar, horizontal and amacrine cells in the inner nuclear layer (INL), extending to the inner plexiform layer (IPL) and though the ganglion cell layer (GCL) and into the nerve fiber layer (NFL) (at protein level). Myristoylated on Gly-2; which may be required for membrane targeting (Probable). Palmitoylated on Cys-3; which may be required for plasma membrane targeting (Probable). Mutation of Cys-3 targets the protein to internal membranes. Defects in RP2 are the cause of retinitis pigmentosa type 2 (RP2) [MIM:312600]; also known as X-linked retinitis pigmentosa 2 (XLRP-2). RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Belongs to the TBCC family. Contains 1 C-CAP/cofactor C-like domain. Name=Mutations of the RP2 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/rp2mut.htm"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RP2"; nucleotide binding magnesium ion binding cell morphogenesis GTPase activator activity protein binding GTP binding nucleoplasm cytoplasm Golgi apparatus centriole plasma membrane cilium protein folding post-Golgi vesicle-mediated transport visual perception protein transport membrane nuclear body cytoplasmic vesicle ciliary basal body cell projection positive regulation of GTPase activity unfolded protein binding extracellular exosome periciliary membrane compartment post-chaperonin tubulin folding pathway uc004dgw.1 uc004dgw.2 uc004dgw.3 uc004dgw.4 uc004dgw.5 uc004dgw.6 
ENST00000218348.7 USP11 ENST00000218348.7 Protease that can remove conjugated ubiquitin from target proteins and polyubiquitin chains. Inhibits the degradation of target proteins by the proteasome. Plays a role in the regulation of pathways leading to NF-kappa-B activation. Plays a role in the regulation of DNA repair after double-stranded DNA breaks. (from UniProt P51784) B2RTX1 BC140849 ENST00000218348.1 ENST00000218348.2 ENST00000218348.3 ENST00000218348.4 ENST00000218348.5 ENST00000218348.6 P51784 Q8IUG6 Q9BWE1 UBP11_HUMAN UHX1 uc064yux.1 Protease that can remove conjugated ubiquitin from target proteins and polyubiquitin chains. Inhibits the degradation of target proteins by the proteasome. Plays a role in the regulation of pathways leading to NF-kappa-B activation. Plays a role in the regulation of DNA repair after double-stranded DNA breaks. Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal). Interacts with RANBP9/RANBPM. Interacts with BRCA2, CHUK/IKKA and NFKBIA. Interacts with papilloma virus protein 16E7. P03129:E7 (xeno); NbExp=6; IntAct=EBI-306876, EBI-866453; P04608:tat (xeno); NbExp=3; IntAct=EBI-306876, EBI-6164389; Nucleus. Cytoplasm. Note=Predominantly nuclear. Associates with chromatin. Belongs to the peptidase C19 family. Contains 1 DUSP domain. It is uncertain whether Met-1 or Met-44 is the initiator. Sequence=AAC50450.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAC50450.1; Type=Frameshift; Positions=65, 117, 134, 146; Sequence=BAC20463.1; Type=Erroneous initiation; Sequence=CAD20056.1; Type=Erroneous gene model prediction; cysteine-type endopeptidase activity thiol-dependent ubiquitin-specific protease activity protein binding nucleus nucleoplasm chromosome cytoplasm cytosol proteolysis ubiquitin-dependent protein catabolic process peptidase activity cysteine-type peptidase activity protein deubiquitination hydrolase activity thiol-dependent ubiquitinyl hydrolase activity uc064yux.1 
ENST00000218388.9 TIMP1 ENST00000218388.9 Homo sapiens TIMP metallopeptidase inhibitor 1 (TIMP1), mRNA. (from RefSeq NM_003254) ENST00000218388.1 ENST00000218388.2 ENST00000218388.3 ENST00000218388.4 ENST00000218388.5 ENST00000218388.6 ENST00000218388.7 ENST00000218388.8 NM_003254 Q6FGX5 Q6FGX5_HUMAN RP1-230G1.3-001 hCG_29141 uc004dif.1 uc004dif.2 uc004dif.3 uc004dif.4 uc004dif.5 This gene belongs to the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases (MMPs), a group of peptidases involved in degradation of the extracellular matrix. In addition to its inhibitory role against most of the known MMPs, the encoded protein is able to promote cell proliferation in a wide range of cell types, and may also have an anti-apoptotic function. Transcription of this gene is highly inducible in response to many cytokines and hormones. In addition, the expression from some but not all inactive X chromosomes suggests that this gene inactivation is polymorphic in human females. This gene is located within intron 6 of the synapsin I gene and is transcribed in the opposite direction. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC000866.1, GQ891504.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000218388.9/ ENSP00000218388.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Contains 1 NTR domain. cell activation protease binding connective tissue replacement involved in inflammatory response wound healing extracellular region collagen trimer basement membrane aging metalloendopeptidase inhibitor activity response to organic substance negative regulation of endopeptidase activity extracellular matrix response to cytokine wound healing negative regulation of apoptotic process response to peptide hormone cartilage development uc004dif.1 uc004dif.2 uc004dif.3 uc004dif.4 uc004dif.5 
ENST00000218436.7 ITIH6 ENST00000218436.7 Homo sapiens inter-alpha-trypsin inhibitor heavy chain family member 6 (ITIH6), mRNA. (from RefSeq NM_198510) A6NN03 ENST00000218436.1 ENST00000218436.2 ENST00000218436.3 ENST00000218436.4 ENST00000218436.5 ENST00000218436.6 ITIH5L ITIH6_HUMAN NM_198510 Q6UXX5 UNQ6369/PRO21074 uc004dtj.1 uc004dtj.2 uc004dtj.3 The protein encoded by this gene belongs to the interalpha trypsin inhibitor heavy chain (ITIH) family. Interalpha trypsin inhibitor (ITI) is composed of two heavy chains (containing VWA domain) and one light chain. The light chain confers the protease-inhibitor function, while the heavy chains are involved in mediating protein-protein interactions with the components of the extracellular matrix. [provided by RefSeq, Sep 2009]. ##Evidence-Data-START## Transcript exon combination :: AY358170.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968832, SAMEA2142853 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000218436.7/ ENSP00000218436.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Secreted (By similarity). Belongs to the ITIH family. Contains 1 VIT domain. Contains 1 VWFA domain. serine-type endopeptidase inhibitor activity extracellular region negative regulation of peptidase activity negative regulation of endopeptidase activity hyaluronan metabolic process peptidase inhibitor activity uc004dtj.1 uc004dtj.2 uc004dtj.3 
ENST00000218516.4 GLA ENST00000218516.4 Homo sapiens galactosidase alpha (GLA), transcript variant 1, mRNA. (from RefSeq NM_000169) ENST00000218516.1 ENST00000218516.2 ENST00000218516.3 NM_000169 Q53Y83 Q53Y83_HUMAN hCG_20401 uc004ehl.1 uc004ehl.2 uc004ehl.3 This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK222627.1, X05790.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000218516.4/ ENSP00000218516.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## catalytic activity hydrolase activity, hydrolyzing O-glycosyl compounds alpha-galactosidase activity lysosome carbohydrate metabolic process metabolic process hydrolase activity hydrolase activity, acting on glycosyl bonds galactoside binding uc004ehl.1 uc004ehl.2 uc004ehl.3 
ENST00000218652.12 NDFIP2 ENST00000218652.12 Homo sapiens Nedd4 family interacting protein 2 (NDFIP2), transcript variant 1, mRNA. (from RefSeq NM_019080) ENST00000218652.1 ENST00000218652.10 ENST00000218652.11 ENST00000218652.2 ENST00000218652.3 ENST00000218652.4 ENST00000218652.5 ENST00000218652.6 ENST00000218652.7 ENST00000218652.8 ENST00000218652.9 KIAA1165 N4WBP5A NFIP2_HUMAN NM_019080 Q7Z2H3 Q7Z428 Q8TAR3 Q9NV92 Q9ULQ5 uc058xra.1 uc058xra.2 Activates HECT domain-containing E3 ubiquitin-protein ligases, including ITCH, NEDD4, NEDD4L, SMURF2, WWP1 and WWP2, and consequently modulates the stability of their targets. As a result, may control many cellular processes. Recruits ITCH, NEDD4 and SMURF2 to endosomal membranes. May modulate EGFR signaling. Forms heterodimers with NDFIP1. Interacts with HECT domain-containing E3 ubiquitin-protein ligases, including NEDD4. Interacts with NEDD4L (By similarity). Interacts with PTEN. When phosphorylated at Tyr-167, interacts with SRC and LYN SH2 domain. May thus act as a scaffold that recruits SRC to NDFIP1, enhancing NDFIP1 phosphorylation. Interacts with SLC11A2/DMT1. May interact with phosphorylated EGFR. Endosome membrane; Multi-pass membrane protein. Golgi apparatus membrane. Endosome, multivesicular body membrane. Expressed in brain, lung, heart, skeletal muscle, kidney, liver and placenta. By T-cell activation. The PY (WW-binding) motifs are required for E3 ubiquitin- protein ligase activation and for ubiquitination. Ubiquitinated by NEDD4 and ITCH. Also ubiquitinated by NEDD4L. Ubiquitination by NEDD4 or NEDD4L does not affect turnover (By similarity). Undergoes transient tyrosine-phosphorylation following EGF stimulation, most probably catalyzed by SRC. Also phosphorylated by LYN and FYN. Sequence=AAH21988.1; Type=Erroneous initiation; Sequence=AAH26126.1; Type=Erroneous initiation; Sequence=BAA91863.1; Type=Erroneous initiation; Golgi membrane protein binding cytoplasm mitochondrion endosome endoplasmic reticulum Golgi apparatus ubiquitin-dependent protein catabolic process vacuolar transport endosome membrane negative regulation of gene expression membrane integral component of membrane metal ion transport positive regulation of protein ubiquitination negative regulation of transporter activity multivesicular body membrane positive regulation of I-kappaB kinase/NF-kappaB signaling intracellular membrane-bounded organelle perinuclear region of cytoplasm WW domain binding negative regulation of protein transport uc058xra.1 uc058xra.2 
ENST00000218721.1 MLNR ENST00000218721.1 Homo sapiens motilin receptor (MLNR), mRNA. (from RefSeq NM_001507) GPR38 MTLR MTLR1 MTLR_HUMAN NM_001507 O43193 uc010tgj.1 uc010tgj.2 Motilin is a 22 amino acid peptide hormone expressed throughout the gastrointestinal (GI) tract. The protein encoded by this gene is a motilin receptor which is a member of the G-protein coupled receptor 1 family. This member is a multi-pass transmembrane protein, and is an important therapeutic target for the treatment of hypomotility disorders. [provided by RefSeq, Aug 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY603964.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145240, SAMEA2145313 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000218721.1/ ENSP00000218721.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for motilin. Cell membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=A; IsoId=O43193-1; Sequence=Displayed; Name=B; IsoId=O43193-2; Sequence=VSP_001894; Expressed only in thyroid, stomach, and bone marrow. Belongs to the G-protein coupled receptor 1 family. G-protein coupled receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway G-protein coupled peptide receptor activity membrane integral component of membrane hormone binding uc010tgj.1 uc010tgj.2 
ENST00000218758.10 ACP5 ENST00000218758.10 Homo sapiens acid phosphatase 5, tartrate resistant (ACP5), transcript variant 1, mRNA. (from RefSeq NM_001111035) A8K3V2 ENST00000218758.1 ENST00000218758.2 ENST00000218758.3 ENST00000218758.4 ENST00000218758.5 ENST00000218758.6 ENST00000218758.7 ENST00000218758.8 ENST00000218758.9 NM_001111035 P13686 PPA5_HUMAN Q2TAB1 Q6IAS6 Q9UCJ5 Q9UCJ6 Q9UCJ7 uc002msi.1 uc002msi.2 uc002msi.3 uc002msi.4 uc002msi.5 uc002msi.6 This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. [provided by RefSeq, Aug 2008]. Involved in osteopontin/bone sialoprotein dephosphorylation. Its expression seems to increase in certain pathological states such as Gaucher and Hodgkin diseases, the hairy cell, the B-cell, and the T-cell leukemias. A phosphate monoester + H(2)O = an alcohol + phosphate. Binds 2 iron ions per subunit. Exists either as monomer or, after proteolytic processing, as a dimer of two chains linked by disulfide bond(s). Lysosome. Defects in ACP5 are the cause of spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]. A disease characterized by vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. Note=ACP5 inactivating mutations result in a functional excess of phosphorylated osteopontin causing deregulation of osteopontin signaling and consequential autoimmune disease. Belongs to the metallophosphoesterase superfamily. Purple acid phosphatase family. Name=Wikipedia; Note=Tartrate-resistant acid phosphatase entry; URL="http://en.wikipedia.org/wiki/Tartrate-resistant_acid_phosphatase"; ossification acid phosphatase activity lysosome cytosol riboflavin metabolic process ferrous iron binding ferric iron binding integral component of membrane dephosphorylation hydrolase activity response to lipopolysaccharide negative regulation of interleukin-1 beta production negative regulation of interleukin-12 production negative regulation of tumor necrosis factor production negative regulation of superoxide anion generation response to cytokine negative regulation of nitric oxide biosynthetic process bone resorption metal ion binding negative regulation of inflammatory response defense response to Gram-positive bacterium bone morphogenesis uc002msi.1 uc002msi.2 uc002msi.3 uc002msi.4 uc002msi.5 uc002msi.6 
ENST00000218867.4 SGCG ENST00000218867.4 Homo sapiens sarcoglycan gamma (SGCG), transcript variant 4, mRNA. (from RefSeq NM_001378246) ENST00000218867.1 ENST00000218867.2 ENST00000218867.3 NM_001378246 Q13326 Q32M32 Q5T9J6 SGCG_HUMAN uc001uom.1 uc001uom.2 uc001uom.3 uc001uom.4 This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK316579.1, SRR5189655.131113.1 [ECO:0000332] ##Evidence-Data-END## Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix. Interacts with the syntrophin SNTA1. Cross-link to form 2 major subcomplexes: one consisting of SGCB, SGCD and SGCG and the other consisting of SGCB and SGCD. The association between SGCB and SGCG is particularly strong while SGCA is loosely associated with the other sarcoglycans (By similarity). Interacts with FLNC. P21399:ACO1; NbExp=2; IntAct=EBI-5357343, EBI-2847111; O75190:DNAJB6; NbExp=2; IntAct=EBI-5357343, EBI-1053164; O75923:DYSF; NbExp=3; IntAct=EBI-5357343, EBI-2799016; Cell membrane, sarcolemma; Single-pass type II membrane protein (By similarity). Cytoplasm, cytoskeleton (By similarity). Expressed in skeletal and heart muscle. Defects in SGCG are the cause of limb-girdle muscular dystrophy type 2C (LGMD2C) [MIM:253700]. LGMD2C is characterized by progressive muscle wasting from early childhood. Belongs to the sarcoglycan beta/delta/gamma/zeta family. Name=Leiden Muscular Dystrophy pages; Note=SGCG mutations in LGMD2C; URL="http://www.dmd.nl/sgcg_home.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SGCG"; protein binding nucleoplasm cytoplasm cytoskeleton plasma membrane muscle organ development dystroglycan complex sarcoglycan complex membrane integral component of membrane sarcolemma cardiac muscle tissue development heart contraction uc001uom.1 uc001uom.2 uc001uom.3 uc001uom.4 
ENST00000219022.3 OLFM4 ENST00000219022.3 Homo sapiens olfactomedin 4 (OLFM4), mRNA. (from RefSeq NM_006418) ENST00000219022.1 ENST00000219022.2 GW112 NM_006418 O95362 OLFM4_HUMAN Q5VWG0 Q6UX06 Q86T22 UNQ362/PRO698 uc001vhl.1 uc001vhl.2 uc001vhl.3 uc001vhl.4 uc001vhl.5 This gene was originally cloned from human myeloblasts and found to be selectively expressed in inflammed colonic epithelium. This gene encodes a member of the olfactomedin family. The encoded protein is an antiapoptotic factor that promotes tumor growth and is an extracellular matrix glycoprotein that facilitates cell adhesion. [provided by RefSeq, Mar 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY358567.1, BC117329.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219022.3/ ENSP00000219022.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May promote proliferation of pancreatic cancer cells by favoring the transition from the S to G2/M phase. In myeloid leukemic cell lines, inhibits cell growth and induces cell differentiation and apoptosis. May play a role in the inhibition of EIF4EBP1 phosphorylation/deactivation. Facilitates cell adhesion, most probably through interaction with cell surface lectins and cadherin. Homomultimer; disulfide-linked. Interacts with NDUFA13. Interacts with cell surface lectins (locutions ricinus communis agglutinin I, concanavalin-A and wheat germ agglutinin) and cadherin. Secreted, extracellular space. Mitochondrion. Note=Subcellular location is not clearly defined: has been shown to be secreted (PubMed:16566923), but also in the mitochondrion (PubMed:15059901 and PubMed:20724538), cytoplasm and plasma membrane (PubMed:20724538) and in the nucleus (PubMed:15059901). Expressed during myeloid lineage development. Much higher expression in bone marrow neutrophils than in peripheral blood neutrophils (at protein level). Strongly expressed in the prostate, small intestine and colon and moderately expressed in the bone marrow and stomach. Overexpressed in some pancreatic cancer tissues. Elevated expression during the early S phase of the cell cycle, followed by a gradual decrease during late S phase. By retinoic acid. This induction requires functional NFKB pathway. The olfactomedin-like domain is involved in the interaction with cadherin. N-glycosylated. Contains 1 olfactomedin-like domain. Sequence=AAC72970.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAC72970.1; Type=Frameshift; Positions=Several; catalytic activity protein binding extracellular region extracellular space mitochondrion plasma membrane cell adhesion specific granule lumen specific granule protein homodimerization activity neutrophil degranulation cadherin binding perinuclear region of cytoplasm protein homooligomerization extracellular exosome positive regulation of substrate adhesion-dependent cell spreading tertiary granule lumen regulation of necrotic cell death secretory granule azurophil granule regulation of apoptotic process regulation of phagocytosis regulation of neutrophil extravasation uc001vhl.1 uc001vhl.2 uc001vhl.3 uc001vhl.4 uc001vhl.5 
ENST00000219066.5 NTHL1 ENST00000219066.5 Has both an apurinic and/or apyrimidinic endonuclease activity and a DNA N-glycosylase activity. Incises damaged DNA at cytosines, thymines and guanines. Acts on a damaged strand, 5' from the damaged site. Required for the repair of both oxidative DNA damage and spontaneous mutagenic lesions. (from UniProt P78549) ENST00000219066.1 ENST00000219066.2 ENST00000219066.3 ENST00000219066.4 NTH1 NTHL1_HUMAN OCTS3 P78549 Q1MVR1 Q99566 Q99794 Q9BPX2 U79718 uc002col.1 Has both an apurinic and/or apyrimidinic endonuclease activity and a DNA N-glycosylase activity. Incises damaged DNA at cytosines, thymines and guanines. Acts on a damaged strand, 5' from the damaged site. Required for the repair of both oxidative DNA damage and spontaneous mutagenic lesions. The C-O-P bond 3' to the apurinic or apyrimidinic site in DNA is broken by a beta-elimination reaction, leaving a 3'-terminal unsaturated sugar and a product with a terminal 5'-phosphate. Binds 1 4Fe-4S cluster. The cluster is not important for the catalytic activity, but which is probably involved in the proper positioning of the enzyme along the DNA strand. Nucleus. Widely expressed with highest levels in heart and lowest levels in lung and liver. Expression levels are regulated during the cell cycle with increased levels during early and mid S-phase. Belongs to the Nth/MutY family. It is uncertain whether Met-1, Met-9 or Met-16 is the initiator. Sequence=AAC51136.1; Type=Erroneous initiation; Sequence=AAH03014.1; Type=Erroneous initiation; Sequence=BAA19413.1; Type=Erroneous initiation; Sequence=BAA32695.1; Type=Erroneous initiation; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/nthl1/"; oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity DNA binding double-stranded DNA binding catalytic activity DNA-(apurinic or apyrimidinic site) lyase activity endonuclease activity protein binding nucleus nucleoplasm mitochondrion DNA repair base-excision repair base-excision repair, AP site formation nucleotide-excision repair, DNA incision, 5'-to lesion cellular response to DNA damage stimulus metabolic process oxidized purine nucleobase lesion DNA N-glycosylase activity hydrolase activity hydrolase activity, acting on glycosyl bonds lyase activity DNA N-glycosylase activity depyrimidination metal ion binding iron-sulfur cluster binding 4 iron, 4 sulfur cluster binding uc002col.1 
ENST00000219069.6 ZNF263 ENST00000219069.6 Homo sapiens zinc finger protein 263 (ZNF263), mRNA. (from RefSeq NM_005741) B2R634 ENST00000219069.1 ENST00000219069.2 ENST00000219069.3 ENST00000219069.4 ENST00000219069.5 FPM315 NM_005741 O14978 O43387 Q96H95 ZKSCAN12 ZN263_HUMAN uc002cuq.1 uc002cuq.2 uc002cuq.3 uc002cuq.4 uc002cuq.5 Might play an important role in basic cellular processes as a transcriptional repressor. Nucleus (By similarity). Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and leukocyte. Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 9 C2H2-type zinc fingers. Contains 1 KRAB domain. Contains 1 SCAN box domain. negative regulation of transcription from RNA polymerase II promoter transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated sequence-specific DNA binding negative regulation of transcription, DNA-templated metal ion binding uc002cuq.1 uc002cuq.2 uc002cuq.3 uc002cuq.4 uc002cuq.5 
ENST00000219070.9 MMP2 ENST00000219070.9 Homo sapiens matrix metallopeptidase 2 (MMP2), transcript variant 1, mRNA. (from RefSeq NM_004530) B2R6U1 CLG4A ENST00000219070.1 ENST00000219070.2 ENST00000219070.3 ENST00000219070.4 ENST00000219070.5 ENST00000219070.6 ENST00000219070.7 ENST00000219070.8 MMP2_HUMAN NM_004530 P08253 Q9UCJ8 uc002ehz.1 uc002ehz.2 uc002ehz.3 uc002ehz.4 uc002ehz.5 uc002ehz.6 This gene is a member of the matrix metalloproteinase (MMP) gene family, that are zinc-dependent enzymes capable of cleaving components of the extracellular matrix and molecules involved in signal transduction. The protein encoded by this gene is a gelatinase A, type IV collagenase, that contains three fibronectin type II repeats in its catalytic site that allow binding of denatured type IV and V collagen and elastin. Unlike most MMP family members, activation of this protein can occur on the cell membrane. This enzyme can be activated extracellularly by proteases, or, intracellulary by its S-glutathiolation with no requirement for proteolytical removal of the pro-domain. This protein is thought to be involved in multiple pathways including roles in the nervous system, endometrial menstrual breakdown, regulation of vascularization, and metastasis. Mutations in this gene have been associated with Winchester syndrome and Nodulosis-Arthropathy-Osteolysis (NAO) syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]. Ubiquitinous metalloproteinase that is involved in diverse functions such as remodeling of the vasculature, angiogenesis, tissue repair, tumor invasion, inflammation, and atherosclerotic plaque rupture. As well as degrading extracellular matrix proteins, can also act on several nonmatrix proteins such as big endothelial 1 and beta-type CGRP promoting vasoconstriction. Also cleaves KISS at a Gly-|-Leu bond. Appears to have a role in myocardial cell death pathways. Contributes to myocardial oxidative stress by regulating the activity of GSK3beta. Cleaves GSK3beta in vitro. PEX, the C-terminal non-catalytic fragment of MMP2, posseses anti-angiogenic and anti-tumor properties and inhibits cell migration and cell adhesion to FGF2 and vitronectin. Ligand for integrinv/beta3 on the surface of blood vessels. Cleavage of gelatin type I and collagen types IV, V, VII, X. Cleaves the collagen-like sequence Pro-Gln-Gly-|- Ile-Ala-Gly-Gln. Binds 4 calcium ions per subunit. Binds 2 zinc ions per subunit. Inhibited by histatin-3 1/24 (histatin-5). Interacts (via the C-terminal hemopexin-like domains- containing region) with the integrin alpha-V/beta-3; the interaction promotes vascular invasion in angiogenic vessels and melamoma cells. Interacts (via the C-terminal PEX domain) with TIMP2 (via the C-terminal); the interaction inhibits the degradation activity. Interacts with GSK3B. Q8IX30:SCUBE3; NbExp=2; IntAct=EBI-1033518, EBI-4479975; Secreted, extracellular space, extracellular matrix. Membrane. Nucleus. Note=Colocalizes with integrin alphaV/beta3 at the membrane surface in angiogenic blood vessels and melanomas. Found in mitochondria, along microfibrils, and in nuclei of cardiomyocytes. Produced by normal skin fibroblasts. PEX is expressed in a number of tumors including gliomas, breast and prostate. Aspirin appears to inhibit expression. The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme. Phosphorylation on multiple sites modulates enzymatic activity. Phosphorylated by PKC in vitro. The propeptide is processed by MMP14 (MT-MMP1) and MMP16 (MT- MMP3). Autocatalytic cleavage in the C-terminal produces the anti- angiogenic peptide, PEX. This processing appears to be facilitated by binding integrinv/beta3. Defects in MMP2 are the cause of Torg-Winchester syndrome (TWS) [MIM:259600]; also known as multicentric osteolysis nodulosis and arthropathy (MONA). TWS is an autosomal recessive osteolysis syndrome. It is severe with generalized osteolysis and osteopenia. Subcutaneous nodules are usually absent. Torg- Winchester syndrome has been associated with a number of additional features including coarse face, corneal opacities, patches of thickened, hyperpigmented skin, hypertrichosis and gum hypertrophy. However, these features are not always present and have occasionally been observed in other osteolysis syndromes. Belongs to the peptidase M10A family. Contains 3 fibronectin type-II domains. Contains 4 hemopexin-like domains. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MMP2ID41396ch16q13.html"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mmp2/"; angiogenesis response to hypoxia blood vessel maturation intramembranous ossification metalloendopeptidase activity serine-type endopeptidase activity protein binding extracellular region extracellular space nucleus cytoplasm mitochondrion plasma membrane proteolysis embryo implantation peptidase activity metallopeptidase activity zinc ion binding membrane hydrolase activity cytokine-mediated signaling pathway extracellular matrix disassembly sarcomere extracellular matrix organization collagen catabolic process extracellular matrix cellular response to reactive oxygen species endodermal cell differentiation cellular protein metabolic process metal ion binding ephrin receptor signaling pathway positive regulation of smooth muscle cell proliferation skeletal system morphogenesis tissue remodeling face morphogenesis bone trabecula formation cellular response to amino acid stimulus response to beta-amyloid positive regulation of vascular smooth muscle cell proliferation uc002ehz.1 uc002ehz.2 uc002ehz.3 uc002ehz.4 uc002ehz.5 uc002ehz.6 
ENST00000219097.7 ORC6 ENST00000219097.7 Homo sapiens origin recognition complex subunit 6 (ORC6), transcript variant 2, non-coding RNA. (from RefSeq NR_037620) B3KN89 ENST00000219097.1 ENST00000219097.2 ENST00000219097.3 ENST00000219097.4 ENST00000219097.5 ENST00000219097.6 NR_037620 ORC6L ORC6_HUMAN Q9Y5N6 uc002eeh.1 uc002eeh.2 uc002eeh.3 uc002eeh.4 The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Gene silencing studies with small interfering RNA demonstrated that this protein plays an essential role in coordinating chromosome replication and segregation with cytokinesis. [provided by RefSeq, Oct 2010]. Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent, however specific DNA sequences that define origins of replication have not been identified so far. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. ORC is composed of six subunits. In human, ORC is cell cycle-dependent regulated: it is sequentially assembled at the exit from anaphase of mitosis and disassembled as cells enter S phase. Interacts with DBF4 (By similarity). Q9UBD5:ORC3; NbExp=4; IntAct=EBI-374840, EBI-374916; Nucleus. Phosphorylated upon DNA damage, probably by ATM or ATR. Defects in ORC6 are the cause of Meier-Gorlin syndrome type 3 (MGORS3) [MIM:613803]. MGORS3 is a syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. Belongs to the ORC6 family. G1/S transition of mitotic cell cycle origin recognition complex fibrillar center DNA binding DNA replication origin binding protein binding nucleus nucleoplasm nuclear origin of replication recognition complex DNA replication DNA replication initiation membrane negative regulation of cell division uc002eeh.1 uc002eeh.2 uc002eeh.3 uc002eeh.4 
ENST00000219139.8 PHAF1 ENST00000219139.8 Homo sapiens chromosome 16 open reading frame 70 (C16orf70), transcript variant 1, mRNA. (from RefSeq NM_025187) C16orf6 C16orf70 CP070_HUMAN ENST00000219139.1 ENST00000219139.2 ENST00000219139.3 ENST00000219139.4 ENST00000219139.5 ENST00000219139.6 ENST00000219139.7 NM_025187 Q9BSU1 Q9HA86 uc002erd.1 uc002erd.2 uc002erd.3 uc002erd.4 uc002erd.5 P54252:ATXN3; NbExp=2; IntAct=EBI-946080, EBI-946046; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BSU1-1; Sequence=Displayed; Name=2; IsoId=Q9BSU1-2; Sequence=VSP_026623, VSP_026624, VSP_026625; Note=No experimental confirmation available; Belongs to the UPF0183 family. Was originally (Ref.1) thought to be a lin-10 homolog. protein binding trans-Golgi network dendrite synaptic vesicle membrane Golgi to plasma membrane protein transport uc002erd.1 uc002erd.2 uc002erd.3 uc002erd.4 uc002erd.5 
ENST00000219150.10 CORO1A ENST00000219150.10 Homo sapiens coronin 1A (CORO1A), transcript variant 2, mRNA. (from RefSeq NM_007074) B2RBL1 COR1A_HUMAN CORO1 ENST00000219150.1 ENST00000219150.2 ENST00000219150.3 ENST00000219150.4 ENST00000219150.5 ENST00000219150.6 ENST00000219150.7 ENST00000219150.8 ENST00000219150.9 NM_007074 P31146 Q2YD73 uc002dww.1 uc002dww.2 uc002dww.3 uc002dww.4 uc002dww.5 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Alternative splicing results in multiple transcript variants. A related pseudogene has been defined on chromosome 16. [provided by RefSeq, Sep 2010]. May be a crucial component of the cytoskeleton of highly motile cells, functioning both in the invagination of large pieces of plasma membrane, as well as in forming protrusions of the plasma membrane involved in cell locomotion. In mycobacteria- infected cells, its retention on the phagosomal membrane prevents fusion between phagosomes and lysosomes. Binds actin (By similarity). P40763:STAT3; NbExp=2; IntAct=EBI-1046676, EBI-518675; Cytoplasm, cytoskeleton (By similarity). Cytoplasm, cell cortex (By similarity). Cytoplasmic vesicle, phagosome membrane (By similarity). Note=In non-infected macrophages, associated with the cortical microtubule network. In mycobacteria-infected macrophages, becomes progressively relocalized and retained around the mycobacterial phagosomes. Retention on the phagosomal membrane is strictly dependent on mycobacterial viability and not due to impaired acidification (By similarity). Expressed in brain, thymus, spleen, bone marrow and lymph node. Low in lung and gut. Belongs to the WD repeat coronin family. Contains 7 WD repeats. immunological synapse phagolysosome assembly phagocytic cup RNA binding actin binding actin monomer binding protein binding cytoplasm early endosome cytosol cytoskeleton actin filament plasma membrane cell-cell junction cell cortex calcium ion transport phagocytosis actin filament organization protein C-terminus binding regulation of actin polymerization or depolymerization cytoskeletal protein binding regulation of cell shape actin cytoskeleton membrane cell migration lamellipodium actin cytoskeleton organization positive regulation of cell migration axon leukocyte chemotaxis phagocytic vesicle membrane regulation of actin filament polymerization cortical actin cytoskeleton cell leading edge negative regulation of vesicle fusion cytoplasmic vesicle cell-substrate adhesion myosin heavy chain binding uropod organization regulation of actin cytoskeleton organization macromolecular complex response to cytokine nerve growth factor signaling pathway positive regulation of T cell proliferation identical protein binding protein homodimerization activity T cell homeostasis natural killer cell degranulation negative regulation of neuron apoptotic process phosphatidylinositol 3-kinase binding innate immune response synapse phagocytic vesicle homeostasis of number of cells within a tissue positive regulation of T cell activation positive chemotaxis actin filament binding negative regulation of actin nucleation regulation of release of sequestered calcium ion into cytosol early endosome to recycling endosome transport extracellular exosome cellular response to interleukin-4 glutamatergic synapse immunological synapse formation nucleus uc002dww.1 uc002dww.2 uc002dww.3 uc002dww.4 uc002dww.5 
ENST00000219162.4 MT4 ENST00000219162.4 Homo sapiens metallothionein 4 (MT4), mRNA. (from RefSeq NM_032935) ENST00000219162.1 ENST00000219162.2 ENST00000219162.3 MT4_HUMAN NM_032935 P47944 Q14DA1 uc002eje.1 uc002eje.2 Seems to bind zinc and copper. Could play a special role in regulating zinc metabolism during the differentiation of stratified epithelia. Belongs to the metallothionein superfamily. Type 1 family. nucleus cytoplasm cellular metal ion homeostasis cellular zinc ion homeostasis biological_process detoxification of copper ion metal ion binding cellular response to cadmium ion cellular response to copper ion cellular response to zinc ion uc002eje.1 uc002eje.2 
ENST00000219169.9 NUTF2 ENST00000219169.9 Homo sapiens nuclear transport factor 2 (NUTF2), transcript variant 1, mRNA. (from RefSeq NM_005796) B2R4G7 ENST00000219169.1 ENST00000219169.2 ENST00000219169.3 ENST00000219169.4 ENST00000219169.5 ENST00000219169.6 ENST00000219169.7 ENST00000219169.8 NM_005796 NTF2 NTF2_HUMAN P13662 P61970 Q6IB67 uc002eup.1 uc002eup.2 uc002eup.3 uc002eup.4 uc002eup.5 This gene encodes a cytosolic factor that facilitates protein transport into the nucleus. The encoded protein is required for nuclear import of the small Ras-like GTPase, Ran which is involved in numerous cellular processes. This protein also interacts with the nuclear pore complex glycoprotein p62. [provided by RefSeq, Apr 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1105906.1, SRR3476690.653232.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219169.9/ ENSP00000219169.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Facilitates protein transport into the nucleus. Interacts with the nucleoporin p62 and with Ran. Acts at a relatively late stage of nuclear protein import, subsequent to the initial docking of nuclear import ligand at the nuclear envelope. Could be part of a multicomponent system of cytosolic factors that assemble at the pore complex during nuclear import. Homodimer. Cytoplasm. Contains 1 NTF2 domain. protein binding nucleus nuclear inner membrane nuclear outer membrane nuclear pore nucleoplasm cytoplasm cytosol protein import into nucleus protein export from nucleus nucleocytoplasmic transport Ran GTPase binding protein transport membrane structural constituent of nuclear pore nuclear membrane positive regulation of protein import into nucleus identical protein binding nuclear pore central transport channel mRNA transport nuclear import signal receptor activity extracellular exosome protein localization to nuclear pore negative regulation of vascular endothelial growth factor production uc002eup.1 uc002eup.2 uc002eup.3 uc002eup.4 uc002eup.5 
ENST00000219197.11 CBLN1 ENST00000219197.11 Homo sapiens cerebellin 1 precursor (CBLN1), mRNA. (from RefSeq NM_004352) B2RAN9 CBLN1_HUMAN ENST00000219197.1 ENST00000219197.10 ENST00000219197.2 ENST00000219197.3 ENST00000219197.4 ENST00000219197.5 ENST00000219197.6 ENST00000219197.7 ENST00000219197.8 ENST00000219197.9 NM_004352 P02682 P23435 Q52M09 uc002efq.1 uc002efq.2 uc002efq.3 uc002efq.4 uc002efq.5 This gene encodes a cerebellum-specific precursor protein, precerebellin, with similarity to the globular (non-collagen-like) domain of complement component C1qB. Precerebellin is processed to give rise to several derivatives, including the hexadecapeptide, cerebellin, which is highly enriched in postsynaptic structures of Purkinje cells. Cerebellin has also been found in human and rat adrenals, where it has been shown to enhance the secretory activity of this gland. [provided by RefSeq, Aug 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1141237.1, SRR3476690.238601.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968832 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219197.11/ ENSP00000219197.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Cerebellin-1 is required for synapse integrity and synaptic plasticity. Required for the ER export and secretion of CBLN3 (By similarity). Cerebellin exerts neuromodulatory functions. Directly stimulates norepinephrine release via the adenylate cyclase/PKA- dependent signaling pathway; and indirectly enhances adrenocortical secretion in vivo, through a paracrine mechanism involving medullary catecholamine release (By similarity). Homohexamer; disulfide-linked homotrimers. The trimers are assembled via the globular C1q domains. The trimers associate via N-terminal cysteine residues to form disulfide-linked hexamers. Probably forms a heteomeric complex with CBLN3. May interact with CBLN2 and CBLN4 (By similarity). Secreted. Membrane. Cell junction, synapse. Note=Might be bound to, or associated with, a membrane. In the Purkinje cells postsynaptic structures. In the cerebellum, cerebellin is much less abundant than [des- Ser1]-cerebellin. Low at birth, the cerebellin concentration increases between day 5 and 15, and reaches peak values between day 21 and 56. The proteolytic processing to yield cerebellin seems to occur either prior to the secretion by presynaptic neurons and subsequent oligomerization or in some other location after release of the mature protein. Contains 1 C1q domain. protein binding extracellular region plasma membrane heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules chemical synaptic transmission nervous system development protein secretion membrane cerebellar granule cell differentiation cell junction protein homodimerization activity synaptic cleft synapse postsynaptic membrane positive regulation of synapse assembly negative regulation of excitatory postsynaptic potential glutamatergic synapse positive regulation of long term synaptic depression regulation of presynapse assembly uc002efq.1 uc002efq.2 uc002efq.3 uc002efq.4 uc002efq.5 
ENST00000219204.8 ARL2BP ENST00000219204.8 Homo sapiens ADP ribosylation factor like GTPase 2 binding protein (ARL2BP), mRNA. (from RefSeq NM_012106) AR2BP_HUMAN B3KQJ5 BART BART1 ENST00000219204.1 ENST00000219204.2 ENST00000219204.3 ENST00000219204.4 ENST00000219204.5 ENST00000219204.6 ENST00000219204.7 NM_012106 Q504R0 Q9Y2Y0 uc002elf.1 uc002elf.2 uc002elf.3 ADP-ribosylation factor (ARF)-like proteins (ARLs) comprise a functionally distinct group of the ARF family of RAS-related GTPases. The protein encoded by this gene binds to ARL2.GTP with high affinity but does not interact with ARL2.GDP, activated ARF, or RHO proteins. The lack of detectable membrane association of this protein or ARL2 upon activation of ARL2 is suggestive of actions distinct from those of the ARFs. This protein is considered to be the first ARL2-specific effector identified, due to its interaction with ARL2.GTP but lack of ARL2 GTPase-activating protein activity. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660803.49844.1, SRR3476690.1049778.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219204.8/ ENSP00000219204.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Together with ARL2, plays a role in the nuclear translocation, retention and transcriptional activity of STAT3. May play a role as an effector of ARL2. Found in a complex with ARL2BP, ARL2 and SLC25A6. Found in a complex with ARL2, ARL2BP and SLC25A4. Interacts with STAT2, STAT3 and STAT4. Interacts with GTP bound ARL2 and ARL3; the complex ARL2-ARL2BP as well as ARL2BP alone, binds to ANT1. Interacts with STAT3; interaction is enhanced with ARL2. Cytoplasm. Mitochondrion intermembrane space. Cytoplasm, cytoskeleton, centrosome. Nucleus. Cytoplasm, cytoskeleton, spindle. Note=The complex formed with ARL2BP, ARL2 and SLC25A4 is expressed in mitochondria (By similarity). Detected in the midbody matrix. Not detected in the Golgi, nucleus and on the mitotic spindle. Centrosome-associated throughout the cell cycle. Not detected to interphase microtubules. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y2Y0-1; Sequence=Displayed; Name=2; IsoId=Q9Y2Y0-2; Sequence=VSP_025317, VSP_025318; Note=No experimental confirmation available; Ubiquitous. Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the ARL2BP family. transcription coactivator activity protein binding nucleus cytoplasm mitochondrion mitochondrial intermembrane space mitochondrial matrix centrosome microtubule organizing center spindle cytosol cytoskeleton cilium signal transduction midbody GTPase regulator activity positive regulation of tyrosine phosphorylation of STAT protein cell projection regulation of catalytic activity regulation of insulin secretion maintenance of protein location in nucleus positive regulation of nucleic acid-templated transcription uc002elf.1 uc002elf.2 uc002elf.3 
ENST00000219207.10 PLLP ENST00000219207.10 Homo sapiens plasmolipin (PLLP), mRNA. (from RefSeq NM_015993) B2R9T6 ENST00000219207.1 ENST00000219207.2 ENST00000219207.3 ENST00000219207.4 ENST00000219207.5 ENST00000219207.6 ENST00000219207.7 ENST00000219207.8 ENST00000219207.9 NM_015993 PLLP_HUMAN PMLP Q9Y342 TM4SF11 uc002elg.1 uc002elg.2 uc002elg.3 uc002elg.4 Appears to be involved in myelination. Could also participate in ion transport events as addition of plasmolipin to lipid bilayers induces the formation of ion channels, which are voltage-dependent and K(+)-selective (By similarity). Hexamer arranged as a trimer of two plasmolipin subunits (By similarity). Membrane; Multi-pass membrane protein. Belongs to the MAL family. Contains 1 MARVEL domain. protein binding ion transport response to wounding membrane integral component of membrane structural constituent of myelin sheath myelination compact myelin membrane raft uc002elg.1 uc002elg.2 uc002elg.3 uc002elg.4 
ENST00000219235.5 CCL22 ENST00000219235.5 Homo sapiens C-C motif chemokine ligand 22 (CCL22), mRNA. (from RefSeq NM_002990) A-152E5.1 A0N0Q6 B2R4W2 CCL22_HUMAN ENST00000219235.1 ENST00000219235.2 ENST00000219235.3 ENST00000219235.4 MDC NM_002990 O00626 SCYA22 uc002elh.1 uc002elh.2 uc002elh.3 uc002elh.4 uc002elh.5 This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, dendritic cells, natural killer cells and for chronically activated T lymphocytes. It also displays a mild activity for primary activated T lymphocytes and has no chemoattractant activity for neutrophils, eosinophils and resting T lymphocytes. The product of this gene binds to chemokine receptor CCR4. This chemokine may play a role in the trafficking of activated T lymphocytes to inflammatory sites and other aspects of activated T lymphocyte physiology. [provided by RefSeq, Sep 2014]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.47952.1, U83171.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219235.5/ ENSP00000219235.4 Protein has antimicrobial activity :: PMID: 12949249 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May play a role in the trafficking of activated/effector T-lymphocytes to inflammatory sites and other aspects of activated T-lymphocyte physiology. Chemotactic for monocytes, dendritic cells and natural killer cells. Mild chemoattractant for primary activated T-lymphocytes and a potent chemoattractant for chronically activated T-lymphocytes but has no chemoattractant activity for neutrophils, eosinophils, and resting T-lymphocytes. Binds to CCR4. Processed forms MDC(3-69), MDC(5-69) and MDC(7-69) seem not be active. Secreted. Highly expressed in macrophage and in monocyte-derived dendritic cells, and thymus. Also found in lymph node, appendix, activated monocytes, resting and activated macrophages. Lower expression in lung and spleen. Very weak expression in small intestine. In lymph node expressed in a mature subset of Langerhans' cells (CD1a+ and CD83+). Expressed in Langerhans' cell histiocytosis but not in dermatopathic lymphadenopathy. Expressed in atopic dermatitis, allergic contact dermatitis skin, and psoriasis, in both the epidermis and dermis. The N-terminal processed forms MDC(3-69), MDC(5-69) and MDC(7-69) are produced by proteolytic cleavage after secretion from monocyte derived dendrocytes. Belongs to the intercrine beta (chemokine CC) family. Name=Wikipedia; Note=CCL22 entry; URL="http://en.wikipedia.org/wiki/CCL22"; monocyte chemotaxis cytokine activity extracellular region extracellular space chemotaxis inflammatory response immune response signal transduction G-protein coupled receptor signaling pathway cell-cell signaling chemokine activity response to virus cytokine-mediated signaling pathway neutrophil chemotaxis killing of cells of other organism positive regulation of GTPase activity CCR chemokine receptor binding lymphocyte chemotaxis cell chemotaxis chemokine-mediated signaling pathway positive regulation of ERK1 and ERK2 cascade cellular response to interferon-gamma cellular response to interleukin-1 cellular response to tumor necrosis factor uc002elh.1 uc002elh.2 uc002elh.3 uc002elh.4 uc002elh.5 
ENST00000219240.9 DHODH ENST00000219240.9 Homo sapiens dihydroorotate dehydrogenase (quinone) (DHODH), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001361) A8K8C8 ENST00000219240.1 ENST00000219240.2 ENST00000219240.3 ENST00000219240.4 ENST00000219240.5 ENST00000219240.6 ENST00000219240.7 ENST00000219240.8 NM_001361 PYRD_HUMAN Q02127 Q6P176 uc002fbp.1 uc002fbp.2 uc002fbp.3 uc002fbp.4 uc002fbp.5 The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803616.136604.1, SRR1803617.224526.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000219240.9/ ENSP00000219240.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor. (S)-dihydroorotate + a quinone = orotate + a quinol. Binds 1 FMN per subunit. Pyrimidine metabolism; UMP biosynthesis via de novo pathway; orotate from (S)-dihydroorotate (quinone route): step 1/1. Monomer. Mitochondrion inner membrane; Single-pass membrane protein. The uncleaved transit peptide is required for mitochondrial targeting and proper membrane integration. Defects in DHODH are the cause of postaxial acrofacial dysostosis (POADS) [MIM:263750]; also known as Miller syndrome. POADS is characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the posterior elements of the limbs, coloboma of the eyelids and supernumerary nipples. POADS is a very rare disorder: only 2 multiplex families, each consisting of 2 affected siblings born to unaffected, nonconsanguineous parents, have been described among a total of around 30 reported cases. The identification of DHODH defects as the cause of postaxial acrofacial dysostosis (POADS) was obtained via exome sequencing (PubMed:19915526), demonstrating that this method is a powerful tool for identifying genes underlying rare mendelian disorders. Exome sequencing consists of targeted resequencing of all protein-coding subsequences, which requires around 5% as much sequencing as a whole human genome. Belongs to the dihydroorotate dehydrogenase family. Type 2 subfamily. catalytic activity dihydroorotate dehydrogenase activity nucleoplasm cytoplasm mitochondrion mitochondrial inner membrane cytosol 'de novo' pyrimidine nucleobase biosynthetic process pyrimidine nucleotide biosynthetic process female pregnancy lactation drug binding pyrimidine ribonucleotide biosynthetic process FMN binding response to organic cyclic compound membrane integral component of membrane oxidoreductase activity oxidoreductase activity, acting on the CH-CH group of donors response to caffeine response to drug response to starvation neuronal cell body positive regulation of apoptotic process 'de novo' UMP biosynthetic process pyrimidine nucleoside biosynthetic process ubiquinone binding oxidation-reduction process regulation of mitochondrial fission response to L-arginine uc002fbp.1 uc002fbp.2 uc002fbp.3 uc002fbp.4 uc002fbp.5 
ENST00000219244.9 CCL17 ENST00000219244.9 Homo sapiens C-C motif chemokine ligand 17 (CCL17), mRNA. (from RefSeq NM_002987) A0N0Q9 CCL17_HUMAN ENST00000219244.1 ENST00000219244.2 ENST00000219244.3 ENST00000219244.4 ENST00000219244.5 ENST00000219244.6 ENST00000219244.7 ENST00000219244.8 NM_002987 Q2M287 Q92583 SCYA17 TARC uc002elj.1 uc002elj.2 This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for T lymphocytes, but not monocytes or granulocytes. The product of this gene binds to chemokine receptors CCR4 and CCR8. This chemokine plays important roles in T cell development in thymus as well as in trafficking and activation of mature T cells. [provided by RefSeq, Sep 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC069107.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2144335, SAMEA2156670 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: upstream AUG and CDS extension is not conserved MANE Ensembl match :: ENST00000219244.9/ ENSP00000219244.4 Protein has antimicrobial activity :: PMID: 12949249 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Chemotactic factor for T-lymphocytes but not monocytes or granulocytes. May play a role in T-cell development in thymus and in trafficking and activation of mature T-cells. Binds to CCR4. Secreted. Expressed at high levels in thymus and at low levels in the lung, colon and small intestine. By phytohemagglutinin (PHA) in the peripheral blood mononuclear cells and by cytokines in monocytes. Belongs to the intercrine beta (chemokine CC) family. Was originally (PubMed:9521068) thought to be a ligand for CCR8. Name=Wikipedia; Note=CCL17 entry; URL="http://en.wikipedia.org/wiki/CCL17"; monocyte chemotaxis receptor binding cytokine activity protein binding extracellular region extracellular space chemotaxis inflammatory response immune response G-protein coupled receptor signaling pathway cell-cell signaling multicellular organism development chemokine activity neutrophil chemotaxis killing of cells of other organism CCR4 chemokine receptor binding positive regulation of GTPase activity negative regulation of myoblast differentiation CCR chemokine receptor binding lymphocyte chemotaxis chemokine-mediated signaling pathway positive regulation of ERK1 and ERK2 cascade cellular response to interferon-gamma cellular response to interleukin-1 cellular response to tumor necrosis factor uc002elj.1 uc002elj.2 
ENST00000219252.10 POLR2C ENST00000219252.10 Homo sapiens RNA polymerase II subunit C (POLR2C), mRNA. (from RefSeq NM_032940) ENST00000219252.1 ENST00000219252.2 ENST00000219252.3 ENST00000219252.4 ENST00000219252.5 ENST00000219252.6 ENST00000219252.7 ENST00000219252.8 ENST00000219252.9 NM_032940 Q6FGR6 Q6FGR6_HUMAN hCG_2025883 uc002elt.1 uc002elt.2 uc002elt.3 This gene encodes the third largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a cysteine rich region and exists as a heterodimer with another polymerase subunit, POLR2J. These two subunits form a core subassembly unit of the polymerase. A pseudogene has been identified on chromosome 21. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC003159.1, SRR3476690.801283.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219252.10/ ENSP00000219252.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## DNA binding DNA-directed 5'-3' RNA polymerase activity nucleus nucleoplasm cytoplasm cytosol transcription, DNA-templated microtubule cytoskeleton protein dimerization activity uc002elt.1 uc002elt.2 uc002elt.3 
ENST00000219255.3 PARD6A ENST00000219255.3 Homo sapiens par-6 family cell polarity regulator alpha (PARD6A), transcript variant 1, mRNA. (from RefSeq NM_016948) ENST00000219255.1 ENST00000219255.2 NM_016948 O14911 PAR6A PAR6A_HUMAN Q9NPB6 Q9NPJ7 uc002ett.1 uc002ett.2 uc002ett.3 uc002ett.4 This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cell membrane protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. The protein also has a role in the epithelial-to-mesenchymal transition (EMT) that characterizes the invasive phenotype associated with metastatic carcinomas. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. Adapter protein involved in asymmetrical cell division and cell polarization processes. Probably involved in the formation of epithelial tight junctions. Association with PARD3 may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins. Interacts with MAP2K5 (By similarity). Interacts with PARD3. Interacts with GTP-bound forms of CDC42, ARHQ/TC10 and RAC1. Interacts with the N-terminal part of PRKCI and PRKCZ. Part of a complex with PARD3, CDC42 or RAC1 and PRKCI or PRKCZ. Part of a complex with LLGL1 and PRKCI (By similarity). Interacts with human T-cell leukemia virus type I TAX protein. Interacts with MPP5 and CRB3. Interacts with TGFBR1; involved in TGF-beta induced epithelial to mesenchymal transition. Interacts with ECT2 ('Thr- 359' phosphorylated form) and PRKCI. P60953:CDC42; NbExp=7; IntAct=EBI-81876, EBI-81752; Q8TEW0:PARD3; NbExp=7; IntAct=EBI-81876, EBI-81968; Q8ND90:PNMA1; NbExp=2; IntAct=EBI-81876, EBI-302345; P41743:PRKCI; NbExp=9; IntAct=EBI-81876, EBI-286199; Q05513:PRKCZ; NbExp=3; IntAct=EBI-81876, EBI-295351; P63000:RAC1; NbExp=2; IntAct=EBI-81876, EBI-413628; Q04917:YWHAH; NbExp=2; IntAct=EBI-81876, EBI-306940; Cytoplasm. Cell membrane. Cell projection, ruffle. Cell junction, tight junction. Note=Colocalizes with GTP- bound CDC42 or RAC1 at membrane ruffles and with PARD3 and PRKCI at epithelial tight junctions. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NPB6-1; Sequence=Displayed; Name=2; IsoId=Q9NPB6-2; Sequence=VSP_007459; Expressed in pancreas, skeletal muscle, brain and heart. Weakly expressed in kidney and placenta. The pseudo-CRIB domain together with the PDZ domain is required for the interaction with Rho small GTPases (By similarity). The OPR domain mediates interactions with MAP2K5 (By similarity). The PDZ domain mediates the interaction with CRB3. Phosphorylated by the TGF-beta receptor (By similarity). Belongs to the PAR6 family. Contains 1 OPR domain. Contains 1 PDZ (DHR) domain. Contains 1 pseudo-CRIB domain. ruffle negative regulation of protein phosphorylation protein kinase C binding protein binding nucleus cytoplasm centrosome microtubule organizing center cytosol cytoskeleton plasma membrane bicellular tight junction cell cortex cell cycle centrosome cycle establishment or maintenance of cell polarity transforming growth factor beta receptor signaling pathway transcription factor binding membrane viral process apical plasma membrane Rho GTPase binding cell junction GTP-dependent protein binding centriolar satellite cell projection cell-cell junction maintenance positive regulation of protein secretion cell division Wnt signaling pathway, planar cell polarity pathway regulation of cellular localization bicellular tight junction assembly positive regulation of protein localization to centrosome uc002ett.1 uc002ett.2 uc002ett.3 uc002ett.4 
ENST00000219271.4 MMP15 ENST00000219271.4 Homo sapiens matrix metallopeptidase 15 (MMP15), mRNA. (from RefSeq NM_002428) A0A2U6 ENST00000219271.1 ENST00000219271.2 ENST00000219271.3 MMP15_HUMAN NM_002428 P51511 Q14111 uc002ena.1 uc002ena.2 uc002ena.3 uc002ena.4 uc002ena.5 This gene encodes a member of the peptidase M10 family and membrane-type subfamily of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Members of this subfamily contain a transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. The encoded preproprotein is proteolytically processed to generate the mature protease. This protein may play a role in cancer progression. [provided by RefSeq, Jan 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC036495.1, Z48482.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219271.4/ ENSP00000219271.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Endopeptidase that degrades various components of the extracellular matrix. May activate progelatinase A. Binds 1 zinc ion per subunit (By similarity). Calcium (By similarity). P04070:PROC; NbExp=2; IntAct=EBI-1383043, EBI-1383018; Membrane; Single-pass type I membrane protein; Extracellular side (Potential). Appeared to be synthesized preferentially in liver, placenta, testis, colon and intestine. Substantial amounts are also detected in pancreas, kidney, lung, heart and skeletal muscle. The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme. The precursor is cleaved by a furin endopeptidase (By similarity). Belongs to the peptidase M10A family. Contains 4 hemopexin-like domains. Sequence=BAA13071.1; Type=Erroneous initiation; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mmp15/"; metalloendopeptidase activity protein binding extracellular space plasma membrane integral component of plasma membrane cellular protein modification process proteolysis enzyme activator activity peptidase activity metallopeptidase activity zinc ion binding membrane integral component of membrane hydrolase activity extracellular matrix disassembly extracellular matrix organization collagen catabolic process extracellular matrix response to estradiol endodermal cell differentiation positive regulation of catalytic activity metal ion binding metalloaminopeptidase activity uc002ena.1 uc002ena.2 uc002ena.3 uc002ena.4 uc002ena.5 
ENST00000219281.8 USB1 ENST00000219281.8 Homo sapiens U6 snRNA biogenesis phosphodiesterase 1 (USB1), transcript variant 1, mRNA. (from RefSeq NM_024598) B4DWE3 B4DZW5 C16orf57 ENST00000219281.1 ENST00000219281.2 ENST00000219281.3 ENST00000219281.4 ENST00000219281.5 ENST00000219281.6 ENST00000219281.7 NM_024598 Q96FZ9 Q9BQ65 Q9H8X8 USB1_HUMAN uc002emz.1 uc002emz.2 uc002emz.3 uc002emz.4 uc002emz.5 This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]. Putative phosphodiesterase responsible for the U6 snRNA 3' end processing. Acts as a ribonuclease (RNase) responsible for trimming the poly(U) tract of the last nucleotides in the pre-U6 snRNA molecule, leading to the formation of mature U6 snRNA 3'end- terminated with a 2',3'-cyclic phosphate. Nucleus. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9BQ65-1; Sequence=Displayed; Name=2; IsoId=Q9BQ65-2; Sequence=VSP_042878; Note=No experimental confirmation available; Name=3; IsoId=Q9BQ65-3; Sequence=VSP_042936; Note=No experimental confirmation available; Defects in USB1 are the cause of poikiloderma with neutropenia (PN) [MIM:604173]. PN is a genodermatosis characterized by poikiloderma, pachyonychia and chronic neutropenia. The disorder starts as a papular erythematous rash on the limbs during the first year of life. It gradually spreads centripetally and, as the papular rash resolves, hypo- and hyperpigmentation result, with development of telangiectasias. Another skin manifestation is pachyonychia, but alopecia and leukoplakia are distinctively absent. One of the most important extracutaneous symptoms is an increased susceptibility to infections, mainly affecting the respiratory system, primarily due to a chronic neutropenia and to neutrophil functional defects. Bone marrow abnormalities account for neutropenia and may evolve into myelodysplasia associated with the risk of leukemic transformation. Poikiloderma with neutropenia shows phenotypic overlap with Rothmund-Thomson syndrome. Belongs to the USB1 family. 3'-5'-exoribonuclease activity nuclease activity nucleus RNA splicing hydrolase activity U6 snRNA 3'-end processing intercellular bridge nucleic acid phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis, exonucleolytic poly(U)-specific exoribonuclease activity, producing 3' uridine cyclic phosphate ends uc002emz.1 uc002emz.2 uc002emz.3 uc002emz.4 uc002emz.5 
ENST00000219299.8 CCDC113 ENST00000219299.8 Homo sapiens coiled-coil domain containing 113 (CCDC113), transcript variant 1, mRNA. (from RefSeq NM_014157) B2RAQ7 B4DR20 CC113_HUMAN ENST00000219299.1 ENST00000219299.2 ENST00000219299.3 ENST00000219299.4 ENST00000219299.5 ENST00000219299.6 ENST00000219299.7 HSPC065 NM_014157 Q9H0I3 Q9NZX2 uc002ene.1 uc002ene.2 uc002ene.3 uc002ene.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H0I3-1; Sequence=Displayed; Name=2; IsoId=Q9H0I3-2; Sequence=VSP_042753; Note=No experimental confirmation available; Sequence=AAF29037.1; Type=Frameshift; Positions=187; protein binding nucleoplasm cytoplasm microtubule organizing center cytosol cytoskeleton cell projection organization macromolecular complex centriolar satellite cilium assembly uc002ene.1 uc002ene.2 uc002ene.3 uc002ene.4 
ENST00000219301.8 PRSS54 ENST00000219301.8 Secreted (Probable). (from UniProt Q6PEW0) BC057843 ENST00000219301.1 ENST00000219301.2 ENST00000219301.3 ENST00000219301.4 ENST00000219301.5 ENST00000219301.6 ENST00000219301.7 KLKBL4 PRS54_HUMAN Q6PEW0 Q96LN9 Q9NT77 uc002enf.1 uc002enf.2 uc002enf.3 Secreted (Probable). The serine protease domain lacks the essential His, Asp, and Ser residues of the catalytic triad at positions 83, 129 and 221 and is predicted to be inactive. Belongs to the peptidase S1 family. Plasma kallikrein subfamily. Contains 1 peptidase S1 domain. serine-type endopeptidase activity extracellular region extracellular space proteolysis uc002enf.1 uc002enf.2 uc002enf.3 
ENST00000219302.8 NME3 ENST00000219302.8 Homo sapiens NME/NM23 nucleoside diphosphate kinase 3 (NME3), mRNA. (from RefSeq NM_002513) ENST00000219302.1 ENST00000219302.2 ENST00000219302.3 ENST00000219302.4 ENST00000219302.5 ENST00000219302.6 ENST00000219302.7 NDK3_HUMAN NM_002513 Q13232 Q9BWH4 uc002cmm.1 uc002cmm.2 uc002cmm.3 uc002cmm.4 uc002cmm.5 Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. Probably has a role in normal hematopoiesis by inhibition of granulocyte differentiation and induction of apoptosis. ATP + nucleoside diphosphate = ADP + nucleoside triphosphate. Magnesium (By similarity). Preferentially expressed at early stages of myeloid differentiation of highly purified CD34+ cells. Belongs to the NDK family. nucleotide binding nucleoside diphosphate kinase activity protein binding ATP binding cytosol purine nucleotide metabolic process nucleoside diphosphate phosphorylation GTP biosynthetic process pyrimidine nucleotide metabolic process UTP biosynthetic process CTP biosynthetic process apoptotic process nucleotide metabolic process nucleobase-containing small molecule interconversion kinase activity phosphorylation transferase activity metal ion binding uc002cmm.1 uc002cmm.2 uc002cmm.3 uc002cmm.4 uc002cmm.5 
ENST00000219313.9 PSMD7 ENST00000219313.9 Homo sapiens proteasome 26S subunit, non-ATPase 7 (PSMD7), mRNA. (from RefSeq NM_002811) D3DWS9 ENST00000219313.1 ENST00000219313.2 ENST00000219313.3 ENST00000219313.4 ENST00000219313.5 ENST00000219313.6 ENST00000219313.7 ENST00000219313.8 MOV34L NM_002811 P51665 PSD7_HUMAN Q6PKI2 Q96E97 uc002fcq.1 uc002fcq.2 uc002fcq.3 uc002fcq.4 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1146516.1, SRR3476690.1155915.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219313.9/ ENSP00000219313.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Acts as a regulatory subunit of the 26S proteasome which is involved in the ATP-dependent degradation of ubiquitinated proteins. Homodimer. Does not bind a metal ion. Belongs to the peptidase M67A family. Contains 1 MPN (JAB/Mov34) domain. Sequence=AAH00338.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; MAPK cascade protein polyubiquitination proteasome complex stimulatory C-type lectin receptor signaling pathway antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent protein binding extracellular region nucleus nucleoplasm cytosol proteasome regulatory particle regulation of cellular amino acid metabolic process negative regulation of G2/M transition of mitotic cell cycle membrane protein deubiquitination anaphase-promoting complex-dependent catabolic process SCF-dependent proteasomal ubiquitin-dependent protein catabolic process tumor necrosis factor-mediated signaling pathway secretory granule lumen NIK/NF-kappaB signaling Fc-epsilon receptor signaling pathway protein homodimerization activity proteasome-mediated ubiquitin-dependent protein catabolic process neutrophil degranulation regulation of mRNA stability post-translational protein modification T cell receptor signaling pathway transmembrane transport Wnt signaling pathway, planar cell polarity pathway regulation of transcription from RNA polymerase II promoter in response to hypoxia extracellular exosome interleukin-1-mediated signaling pathway negative regulation of canonical Wnt signaling pathway positive regulation of canonical Wnt signaling pathway regulation of mitotic cell cycle phase transition regulation of hematopoietic stem cell differentiation ficolin-1-rich granule lumen uc002fcq.1 uc002fcq.2 uc002fcq.3 uc002fcq.4 
ENST00000219320.9 SLC38A7 ENST00000219320.9 Homo sapiens solute carrier family 38 member 7 (SLC38A7), transcript variant 7, non-coding RNA. (from RefSeq NR_161424) ENST00000219320.1 ENST00000219320.2 ENST00000219320.3 ENST00000219320.4 ENST00000219320.5 ENST00000219320.6 ENST00000219320.7 ENST00000219320.8 NR_161424 Q53GJ9 Q9H9I5 Q9NVC3 S38A7_HUMAN SNAT7 uc002eod.1 uc002eod.2 uc002eod.3 Mediates sodium-dependent transport of amino acids, preferentially L-glutamine (By similarity). Membrane; Multi-pass membrane protein (By similarity). Note=In neurons, located in soma and axons (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NVC3-1; Sequence=Displayed; Name=2; IsoId=Q9NVC3-2; Sequence=VSP_031511; Note=No experimental confirmation available; Belongs to the amino acid/polyamine transporter 2 family. amino acid transmembrane transport L-histidine transmembrane transporter activity L-glutamate transmembrane transporter activity protein binding ion transport sodium ion transport amino acid transport asparagine transport glutamine transport amino acid transmembrane transporter activity L-amino acid transmembrane transporter activity L-alanine transmembrane transporter activity L-asparagine transmembrane transporter activity L-aspartate transmembrane transporter activity L-glutamine transmembrane transporter activity L-leucine transmembrane transporter activity L-methionine transmembrane transporter activity L-serine transmembrane transporter activity branched-chain amino acid transport neutral amino acid transport L-alanine transport L-glutamate transport methionine transport L-serine transport membrane integral component of membrane axon neuronal cell body L-aspartate transport L-histidine transmembrane transport cation transmembrane transport L-alpha-amino acid transmembrane transport uc002eod.1 uc002eod.2 uc002eod.3 
ENST00000219334.10 SMPD3 ENST00000219334.10 Homo sapiens sphingomyelin phosphodiesterase 3 (SMPD3), mRNA. (from RefSeq NM_018667) ENST00000219334.1 ENST00000219334.2 ENST00000219334.3 ENST00000219334.4 ENST00000219334.5 ENST00000219334.6 ENST00000219334.7 ENST00000219334.8 ENST00000219334.9 NM_018667 NSMA2_HUMAN Q2M1S8 Q9NY59 uc002ewa.1 uc002ewa.2 uc002ewa.3 uc002ewa.4 uc002ewa.5 Catalyzes the hydrolysis of sphingomyelin to form ceramide and phosphocholine. Ceramide mediates numerous cellular functions, such as apoptosis and growth arrest, and is capable of regulating these 2 cellular events independently. Also hydrolyzes sphingosylphosphocholine. Regulates the cell cycle by acting as a growth suppressor in confluent cells. Probably acts as a regulator of postnatal development and participates in bone and dentin mineralization. Sphingomyelin + H(2)O = N-acylsphingosine + phosphocholine. Magnesium. Activated by unsaturated fatty acids and phosphatidylserine. pH dependence: Optimum pH is 7.5; Golgi apparatus membrane; Lipid-anchor. Cell membrane; Lipid-anchor. Note=May localize to detergent-resistant subdomains of Golgi membranes of hypothalamic neurosecretory neurons. According to PubMed:15051724, it localizes to plasma membrane in confluent contact-inhibited cells. Predominantly expressed in brain. Up-regulated during G0/G1 phases. Palmitoylated, palmitoylation-deficient proteins are targeted for lysosomal degradation (By similarity). Belongs to the neutral sphingomyelinase family. Golgi cis cisterna Golgi membrane skeletal system development ossification regulation of protein phosphorylation endochondral ossification chondrocyte development hematopoietic progenitor cell differentiation regulation of leukocyte migration chondrocyte development involved in endochondral bone morphogenesis phospholipase activity sphingomyelin phosphodiesterase activity protein binding cytoplasm Golgi apparatus plasma membrane lipid metabolic process sphingolipid metabolic process ceramide metabolic process sphingomyelin metabolic process sphingomyelin catabolic process glycosphingolipid metabolic process cell cycle signal transduction multicellular organism development polysaccharide transport membrane hydrolase activity peptide hormone secretion bone mineralization lung development BMP signaling pathway collagen metabolic process cellular response to reactive oxygen species multicellular organism growth identical protein binding protein kinase B signaling positive regulation of mitotic nuclear division metal ion binding platelet-derived growth factor receptor signaling pathway lung alveolus development positive regulation of smooth muscle cell proliferation cartilage development bone development respiratory system development regulation of cartilage development neutral sphingomyelin phosphodiesterase activity cellular response to hydrogen peroxide G1 to G0 transition cellular response to magnesium ion cellular response to tumor necrosis factor cellular response to redox state DNA biosynthetic process extracellular matrix assembly sphingolipid mediated signaling pathway dentinogenesis bone growth regulation of hyaluronan biosynthetic process negative regulation of hyaluronan biosynthetic process cellular response to peptide positive regulation of exosomal secretion positive regulation of ceramide biosynthetic process uc002ewa.1 uc002ewa.2 uc002ewa.3 uc002ewa.4 uc002ewa.5 
ENST00000219343.11 SLC7A6 ENST00000219343.11 Homo sapiens solute carrier family 7 member 6 (SLC7A6), transcript variant 2, mRNA. (from RefSeq NM_003983) ENST00000219343.1 ENST00000219343.10 ENST00000219343.2 ENST00000219343.3 ENST00000219343.4 ENST00000219343.5 ENST00000219343.6 ENST00000219343.7 ENST00000219343.8 ENST00000219343.9 KIAA0245 NM_003983 Q68DS4 Q7L1N3 Q92536 YLAT2_HUMAN uc002evu.1 uc002evu.2 uc002evu.3 uc002evu.4 Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Also acts as an arginine/glutamine exchanger, following an antiport mechanism for amino acid transport, influencing arginine release in exchange for extracellular amino acids. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L-arginine in monocytes. Reduces uptake of ornithine in retinal pigment epithelial (RPE) cells. Arginine transport is strongly inhibited by lysine, glutamate, leucine, glutamine, methionine and histidine, in the presence of Na(+). Also inhibited by protein kinase C (PKC) and treatment with phorbol-12-myristate-13-acetate (PMA). Mutual inhibition is observed when leucine or glutamine is used as substrate. Inhibition of arginine and leucine uptake also occurs when SLC3A2/4F2hc is either truncated at its C-terminus or mutated at critical residues within the terminal 15 amino acids. Kinetic parameters: KM=295 uM for glutamine (in the presence of NaCl); KM=236 uM for leucine (in the presence of NaCl); KM=120 uM for arginine (in the presence of NaCl); KM=138 uM for arginine (in the absence of NaCl); Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc. Basolateral cell membrane; Multi-pass membrane protein. Expressed in normal fibroblasts and those from LPI patients. Also expressed in HUVECs, monocytes, RPE cells, and various carcinoma cell lines. Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family. Sequence=BAA13376.2; Type=Erroneous initiation; amino acid transmembrane transport plasma membrane integral component of plasma membrane amino acid transport amino acid transmembrane transporter activity L-amino acid transmembrane transporter activity antiporter activity membrane integral component of membrane basolateral plasma membrane transmembrane transporter activity intracellular membrane-bounded organelle leukocyte migration transmembrane transport L-alpha-amino acid transmembrane transport uc002evu.1 uc002evu.2 uc002evu.3 uc002evu.4 
ENST00000219345.10 PLA2G15 ENST00000219345.10 Homo sapiens phospholipase A2 group XV (PLA2G15), transcript variant 1, mRNA. (from RefSeq NM_012320) B3KMF3 ENST00000219345.1 ENST00000219345.2 ENST00000219345.3 ENST00000219345.4 ENST00000219345.5 ENST00000219345.6 ENST00000219345.7 ENST00000219345.8 ENST00000219345.9 LYPLA3 NM_012320 PAG15_HUMAN Q53GZ1 Q8NCC3 Q9NPQ6 Q9UG04 Q9Y2B3 UNQ341/PRO540 uc002evr.1 uc002evr.2 uc002evr.3 uc002evr.4 uc002evr.5 Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene hydrolyzes lysophosphatidylcholine to glycerophosphorylcholine and a free fatty acid. This enzyme is present in the plasma and thought to be associated with high-density lipoprotein. A later paper contradicts the function of this gene. It demonstrates that this gene encodes a lysosomal enzyme instead of a lysophospholipase and has both calcium-independent phospholipase A2 and transacylase activities. [provided by RefSeq, Jul 2008]. Has transacylase and calcium-independent phospholipase A2 activity. Catalyzes the formation of 1-O-acyl-N- acetylsphingosine and the concomitant release of a lyso- phospholipid (By similarity). May have weak lysophospholipase activity. Lysosome (By similarity). Secreted. Highly expressed in heart, placenta, skeletal muscle, kidney and pancreas. Detected at lower levels in spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocytes. N-glycosylated. Belongs to the AB hydrolase superfamily. Lipase family. Sequence=CAB53675.1; Type=Erroneous initiation; lysophospholipase activity phospholipid binding extracellular region extracellular space nucleoplasm lysosome lipid metabolic process fatty acid metabolic process phospholipid metabolic process glycerophospholipid metabolic process ceramide metabolic process O-acyltransferase activity fatty acid catabolic process membrane lipid catabolic process transferase activity transferase activity, transferring acyl groups hydrolase activity phosphatidylcholine catabolic process intracellular membrane-bounded organelle phosphatidylethanolamine catabolic process phosphatidylcholine metabolic process calcium-independent phospholipase A2 activity extracellular exosome uc002evr.1 uc002evr.2 uc002evr.3 uc002evr.4 uc002evr.5 
ENST00000219368.8 FA2H ENST00000219368.8 Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA. (from RefSeq NM_024306) ENST00000219368.1 ENST00000219368.2 ENST00000219368.3 ENST00000219368.4 ENST00000219368.5 ENST00000219368.6 ENST00000219368.7 FA2H_HUMAN FAAH NM_024306 O75213 Q7L5A8 Q96DK1 Q9H1A5 uc002fde.1 uc002fde.2 uc002fde.3 uc002fde.4 This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.[provided by RefSeq, Mar 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.205016.1, AK058016.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968832 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219368.8/ ENSP00000219368.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids. Iron (By similarity). Endoplasmic reticulum membrane; Multi-pass membrane protein. Microsome membrane; Multi-pass membrane protein. Detected in differentiating cultured keratinocytes (at protein level). Detected in epidermis and cultured keratinocytes. Highly expressed in brain and colon. Detected at lower levels in testis, prostate, pancreas and kidney. Up-regulated during keratinocyte differentiation. The histidine box domains may contain the active site and/or be involved in metal ion binding. Defects in FA2H are a cause of spastic paraplegia autosomal recessive type 35 (SPG35) [MIM:612319]. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Belongs to the sterol desaturase family. SCS7 subfamily. Contains 1 cytochrome b5 heme-binding domain. Sequence=AAC23496.1; Type=Erroneous gene model prediction; sebaceous gland cell differentiation iron ion binding endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process fatty acid metabolic process fatty acid biosynthetic process glucosylceramide biosynthetic process galactosylceramide biosynthetic process lipid biosynthetic process membrane integral component of membrane oxidoreductase activity heme binding sphingolipid biosynthetic process lipid modification organelle membrane central nervous system myelin maintenance peripheral nervous system myelin maintenance regulation of cell proliferation regulation of hair cycle intracellular membrane-bounded organelle plasma membrane raft organization ceramide biosynthetic process metal ion binding oxidation-reduction process establishment of skin barrier fatty acid alpha-hydroxylase activity uc002fde.1 uc002fde.2 uc002fde.3 uc002fde.4 
ENST00000219406.11 PDIA2 ENST00000219406.11 Homo sapiens protein disulfide isomerase family A member 2 (PDIA2), mRNA. (from RefSeq NM_006849) A6ZJ64 B4DI27 ENST00000219406.1 ENST00000219406.10 ENST00000219406.2 ENST00000219406.3 ENST00000219406.4 ENST00000219406.5 ENST00000219406.6 ENST00000219406.7 ENST00000219406.8 ENST00000219406.9 NM_006849 PDIA2_HUMAN PDIP Q13087 Q2WGM4 Q4TT67 Q6B010 Q96KJ6 Q9BW95 uc002cgo.1 uc002cgo.2 uc002cgo.3 This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, two catalytically active thioredoxin (TRX) domains, two TRX-like domains and a C-terminal ER-retention sequence. The protein plays a role in the folding of nascent proteins in the endoplasmic reticulum by forming disulfide bonds through its thiol isomerase, oxidase, and reductase activity. The encoded protein also possesses estradiol-binding activity and can modulate intracellular estradiol levels. [provided by RefSeq, Sep 2017]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7410570.571219.1, SRR7410570.571220.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219406.11/ ENSP00000219406.7 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Acts as an intracellular estrogen-binding protein. May be involved in modulating cellular levels and biological functions of estrogens in the pancreas. May act as a chaperone that inhibits aggregation of misfolded proteins. Catalyzes the rearrangement of -S-S- bonds in proteins. Monomer; predominantly as monomer under reducing conditions. Homodimer; disulfide-linked. Part of a large chaperone multiprotein complex comprising DNAJB11, HSP90B1, HSPA5, HYOU, PDIA2, PDIA4, PDIA6, PPIB, SDF2L1, UGT1A1 and very small amounts of ERP29, but not, or at very low levels, CALR nor CANX. P16333:NCK1; NbExp=3; IntAct=EBI-1752525, EBI-389883; Endoplasmic reticulum lumen (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q13087-1; Sequence=Displayed; Name=2; IsoId=Q13087-2; Sequence=VSP_039292; Highly expressed in pancreas (at protein level). The disulfide-linked homodimer exhibits an enhanced chaperone activity. Glycosylated. Belongs to the protein disulfide isomerase family. Contains 2 thioredoxin domains. Sequence=AAC50401.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part; Sequence=AAH75029.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part; Sequence=BAG58339.1; Type=Erroneous initiation; Note=Translation N-terminally extended; protein disulfide isomerase activity steroid binding protein binding endoplasmic reticulum endoplasmic reticulum lumen protein folding protein retention in ER lumen lipid binding disulfide oxidoreductase activity peptide disulfide oxidoreductase activity isomerase activity protein folding in endoplasmic reticulum response to endoplasmic reticulum stress cell redox homeostasis oxidation-reduction process uc002cgo.1 uc002cgo.2 uc002cgo.3 
ENST00000219409.8 ARHGDIG ENST00000219409.8 Homo sapiens Rho GDP dissociation inhibitor gamma (ARHGDIG), mRNA. (from RefSeq NM_001176) ENST00000219409.1 ENST00000219409.2 ENST00000219409.3 ENST00000219409.4 ENST00000219409.5 ENST00000219409.6 ENST00000219409.7 GDIR3_HUMAN NM_001176 Q4TT69 Q96S29 Q99819 uc002cgm.1 uc002cgm.2 uc002cgm.3 The GDP-dissociation inhibitors (GDIs) play a primary role in modulating the activation of GTPases by inhibiting the exchange of GDP for GTP. See ARHGDIB (MIM 602843).[supplied by OMIM, Nov 2010]. ##Evidence-Data-START## Transcript exon combination :: AB593111.1, ERR279844.8487.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219409.8/ ENSP00000219409.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Inhibits GDP/GTP exchange reaction of RhoB. Interacts specifically with the GDP- and GTP-bound forms of post- translationally processed Rhob and Rhog proteins, both of which show a growth-regulated expression in mammalian cells. Stimulates the release of the GDP-bound but not the GTP-bound RhoB protein. Also inhibits the GDP/GTP exchange of RhoB but shows less ability to inhibit the dissociation of prebound GTP. Cytoplasm. Primarily expressed in pancreas and brain. Belongs to the Rho GDI family. blastocyst hatching GDP-dissociation inhibitor activity Rho GDP-dissociation inhibitor activity GTPase activator activity protein binding cytoplasm cytosol plasma membrane negative regulation of cell adhesion Rho protein signal transduction membrane GTPase regulator activity cytoplasmic vesicle regulation of protein localization positive regulation of GTPase activity Rac GTPase binding regulation of catalytic activity regulation of small GTPase mediated signal transduction uc002cgm.1 uc002cgm.2 uc002cgm.3 
ENST00000219439.9 HSDL1 ENST00000219439.9 Homo sapiens hydroxysteroid dehydrogenase like 1 (HSDL1), transcript variant 1, mRNA. (from RefSeq NM_031463) B4DSL2 D3DUL4 ENST00000219439.1 ENST00000219439.2 ENST00000219439.3 ENST00000219439.4 ENST00000219439.5 ENST00000219439.6 ENST00000219439.7 ENST00000219439.8 HSDL1_HUMAN NM_031463 Q3SXM4 Q3SXM5 Q8NC98 Q9BY22 uc002fhk.1 uc002fhk.2 uc002fhk.3 uc002fhk.4 Interacts with STYXL1. Mitochondrion. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q3SXM5-1; Sequence=Displayed; Name=2; IsoId=Q3SXM5-2; Sequence=VSP_042823; Note=No experimental confirmation available; Highly expressed in testis and ovary. Also detected in thyroid, spinal cord, adrenal gland, heart, placenta, skeletal muscle, small intestine, colon, spleen, prostate and pancreas. Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily. Although related to the SDR family, lacks the conserved active Tyr residue in position 218 which is replaced by a Phe, suggesting that it may lack oxidoreductase activity. Sequence=AAK15047.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAK16927.1; Type=Erroneous initiation; Note=Translation N-terminally extended; protein binding mitochondrion oxidation-reduction process steroid dehydrogenase activity uc002fhk.1 uc002fhk.2 uc002fhk.3 uc002fhk.4 
ENST00000219473.12 USP10 ENST00000219473.12 Homo sapiens ubiquitin specific peptidase 10 (USP10), transcript variant 2, mRNA. (from RefSeq NM_005153) B2RDJ8 B4DS84 ENST00000219473.1 ENST00000219473.10 ENST00000219473.11 ENST00000219473.2 ENST00000219473.3 ENST00000219473.4 ENST00000219473.5 ENST00000219473.6 ENST00000219473.7 ENST00000219473.8 ENST00000219473.9 KIAA0190 NM_005153 Q14694 Q9BWG7 Q9NSL7 UBP10_HUMAN uc002fii.1 uc002fii.2 uc002fii.3 uc002fii.4 uc002fii.5 Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. Several transcript variants, some protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2013]. Hydrolase that can remove conjugated ubiquitin from target proteins such as p53/TP53, BECN1, SNX3 and CFTR. Acts as an essential regulator of p53/TP53 stability: in unstressed cells, specifically deubiquitinates p53/TP53 in the cytoplasm, leading to counteract MDM2 action and stabilize p53/TP53. Following DNA damage, translocates to the nucleus and deubiquitinates p53/TP53, leading to regulate the p53/TP53-dependent DNA damage response. Component of a regulatory loop that controls autophagy and p53/TP53 levels: mediates deubiquitination of BECN1, a key regulator of autophagy, leading to stabilize the PIK3C3/VPS34- containing complexes. In turn, PIK3C3/VPS34-containing complexes regulate USP10 stability, suggesting the existence of a regulatory system by which PIK3C3/VPS34-containing complexes regulate p53/TP53 protein levels via USP10 and USP13. Does not deubiquitinate MDM2. Deubiquitinates CFTR in early endosomes, enhancing its endocytic recycling. Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal). Specifically inhibited by spautin-1 (specific and potent autophagy inhibitor-1), a derivative of MBCQ that binds to USP10 and inhibits deubiquitinase activity. Regulated by PIK3C3/VPS34-containing complexes. Interacts with G3BP, which may regulate its function. Interacts with p53/TP53, SNX3 and CFTR. Cytoplasm. Nucleus. Early endosome. Note=Cytoplasmic in normal conditions. After DNA damage, translocates to the nucleus following phosphorylation by ATM. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q14694-1; Sequence=Displayed; Name=2; IsoId=Q14694-2; Sequence=VSP_038869; Name=3; IsoId=Q14694-3; Sequence=VSP_038868; Note=No experimental confirmation available; Widely expressed. Following DNA damage. Down-regulated in renal cell carcinomas. Phosphorylated by ATM following DNA damage, leading to stablization and translocation it to the nucleus. Ubiquitinated. Deubiquitinated by USP13. Belongs to the peptidase C19 family. USP10 subfamily. Sequence=CAD97644.1; Type=Erroneous initiation; p53 binding RNA binding cysteine-type endopeptidase activity thiol-dependent ubiquitin-specific protease activity protein binding nucleus nucleoplasm cytoplasm endosome early endosome cytosol DNA repair proteolysis ubiquitin-dependent protein catabolic process autophagy cellular response to DNA damage stimulus peptidase activity cysteine-type peptidase activity regulation of autophagy protein deubiquitination hydrolase activity translesion synthesis DNA damage response, signal transduction by p53 class mediator macromolecular complex thiol-dependent ubiquitinyl hydrolase activity negative regulation of I-kappaB kinase/NF-kappaB signaling ion channel binding cellular response to interleukin-1 uc002fii.1 uc002fii.2 uc002fii.3 uc002fii.4 uc002fii.5 
ENST00000219478.11 ZNF500 ENST00000219478.11 Homo sapiens zinc finger protein 500 (ZNF500), transcript variant 1, mRNA. (from RefSeq NM_021646) A8K6X7 ENST00000219478.1 ENST00000219478.10 ENST00000219478.2 ENST00000219478.3 ENST00000219478.4 ENST00000219478.5 ENST00000219478.6 ENST00000219478.7 ENST00000219478.8 ENST00000219478.9 KIAA0557 NM_021646 O60304 Q0VAL2 Q96CQ8 Q9BTG0 ZKSCAN18 ZN500_HUMAN uc002cxp.1 uc002cxp.2 uc002cxp.3 May be involved in transcriptional regulation. Nucleus (Potential). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 5 C2H2-type zinc fingers. Contains 1 KRAB domain. Contains 1 SCAN box domain. Sequence=BAA25483.1; Type=Erroneous initiation; nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm cytosol regulation of transcription, DNA-templated metal ion binding uc002cxp.1 uc002cxp.2 uc002cxp.3 
ENST00000219479.7 NME4 ENST00000219479.7 Homo sapiens NME/NM23 nucleoside diphosphate kinase 4 (NME4), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_005009) ENST00000219479.1 ENST00000219479.2 ENST00000219479.3 ENST00000219479.4 ENST00000219479.5 ENST00000219479.6 NDKM_HUMAN NM23D NM_005009 O00746 Q5U0M9 uc002cgz.1 uc002cgz.2 uc002cgz.3 uc002cgz.4 uc002cgz.5 The nucleoside diphosphate (NDP) kinases (EC 2.7.4.6) are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates. The enzymes are products of the nm23 gene family, which includes NME4 (Milon et al., 1997 [PubMed 9099850]).[supplied by OMIM, May 2008]. Major role in the synthesis of nucleoside triphosphates other than ATP (By similarity). ATP + nucleoside diphosphate = ADP + nucleoside triphosphate. Magnesium (By similarity). Homohexamer. Interacts with CAPN8 (By similarity). Mitochondrion intermembrane space. Widely distributed. Found at very high levels in prostate, heart, liver, small intestine, and skeletal muscle tissues, and in low amounts in the brain and in blood leukocytes. Belongs to the NDK family. nucleotide binding nucleoside diphosphate kinase activity protein binding ATP binding mitochondrion mitochondrial inner membrane mitochondrial intermembrane space mitochondrial matrix purine nucleotide metabolic process nucleoside diphosphate phosphorylation GTP biosynthetic process pyrimidine nucleotide metabolic process UTP biosynthetic process CTP biosynthetic process lipid transport lipid binding nucleoside metabolic process nucleotide metabolic process nucleobase-containing small molecule interconversion membrane kinase activity phosphorylation transferase activity metal ion binding cardiolipin binding uc002cgz.1 uc002cgz.2 uc002cgz.3 uc002cgz.4 uc002cgz.5 
ENST00000219481.10 DECR2 ENST00000219481.10 Homo sapiens 2,4-dienoyl-CoA reductase 2 (DECR2), mRNA. (from RefSeq NM_020664) DECR2_HUMAN ENST00000219481.1 ENST00000219481.2 ENST00000219481.3 ENST00000219481.4 ENST00000219481.5 ENST00000219481.6 ENST00000219481.7 ENST00000219481.8 ENST00000219481.9 NM_020664 PDCR Q6ZRS7 Q96ET0 Q9NUI1 uc002chb.1 uc002chb.2 uc002chb.3 uc002chb.4 uc002chb.5 Auxiliary enzyme of beta-oxidation. Participates in the degradation of unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions in peroxisome. Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA to yield trans-3-enoyl-CoA. Has activity towards short and medium chain 2,4-dienoyl-CoAs, but also towards 2,4,7,10,13,16,19- docosaheptaenoyl-CoA, suggesting that it does not constitute a rate limiting step in the peroxisomal degradation of docosahexaenoic acid. Trans-2,3-didehydroacyl-CoA + NADP(+) = trans,trans-2,3,4,5-tetradehydroacyl-CoA + NADPH. Kinetic parameters: KM=59 uM for 2,4-hexadienoyl-CoA; KM=6 uM for 2,4-decadienoyl-CoA; KM=102 uM for 2,4,7,10,13,16,19-docosaheptaenoyl-CoA; Vmax=1.75 umol/min/mg enzyme toward 2,4-Hexadienoyl CoA; Vmax=1.37 umol/min/mg enzyme toward 2,4-Decadienoyl CoA; Monomer, dimer and oligomer. Peroxisome (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NUI1-1; Sequence=Displayed; Name=2; IsoId=Q9NUI1-2; Sequence=VSP_013630, VSP_013631, VSP_013632; Note=No experimental confirmation available; Name=3; IsoId=Q9NUI1-3; Sequence=VSP_013629; Note=No experimental confirmation available; Belongs to the short-chain dehydrogenases/reductases (SDR) family. 2,4-dienoyl-CoA reductase subfamily. peroxisome peroxisomal membrane cytosol protein targeting to peroxisome lipid metabolic process fatty acid metabolic process unsaturated fatty acid biosynthetic process 2,4-dienoyl-CoA reductase (NADPH) activity oxidoreductase activity trans-2-enoyl-CoA reductase (NADPH) activity fatty acid beta-oxidation using acyl-CoA oxidase oxidation-reduction process uc002chb.1 uc002chb.2 uc002chb.3 uc002chb.4 uc002chb.5 
ENST00000219548.9 STUB1 ENST00000219548.9 Homo sapiens STIP1 homology and U-box containing protein 1 (STUB1), transcript variant 1, mRNA. (from RefSeq NM_005861) A2IDB9 CHIP CHIP_HUMAN ENST00000219548.1 ENST00000219548.2 ENST00000219548.3 ENST00000219548.4 ENST00000219548.5 ENST00000219548.6 ENST00000219548.7 ENST00000219548.8 NM_005861 O60526 PP1131 Q969U2 Q9HBT1 Q9UNE7 uc002cit.1 uc002cit.2 uc002cit.3 uc002cit.4 uc002cit.5 This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014]. E3 ubiquitin-protein ligase which targets misfolded chaperone substrates towards proteasomal degradation. Collaborates with ATXN3 in the degradation of misfolded chaperone substrates: ATXN3 restricting the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension. Ubiquitinates NOS1 in concert with Hsp70 and Hsp40. Modulates the activity of several chaperone complexes, including Hsp70, Hsc70 and Hsp90. Mediates transfer of non-canonical short ubiquitin chains to HSPA8 that have no effect on HSPA8 degradation. Mediates polyubiquitination of DNA polymerase beta (POLB) at 'Lys-41', 'Lys-61' and 'Lys-81', thereby playing a role in base-excision repair: catalyzes polyubiquitination by amplifying the HUWE1/ARF- BP1-dependent monoubiquitination and leading to POLB-degradation by the proteasome. Mediates polyubiquitination of CYP3A4. Ubiquitinates EPHA2 and may regulate the receptor stability and activity through proteasomal degradation. Protein modification; protein ubiquitination. Homodimer (By similarity). Interacts with BAG2, and with the E2 ubiquitin conjugating enzymes UBE2D1, UBE2D2 and UBE2D3. Interacts with the C-terminal domains of HSPA8 and HSPA1A. Detected in a ternary complex containing STUB1, HSPA1A and HSPBP1. Interacts with MKKS. Interacts with DYX1C1 and POLB. Interacts (via TPR repeats) with HSP90AA1. Interacts (when monoubiquitinated) with ATXN3. Interacts with UBE2W (By similarity). Interacts (via the U-box domain) with the UBE2V2- UBE2N heterodimer; the complex has a specific 'Lys-63'-linked polyubiquitination activity. Interacts with DNAJB6. Q86WG3:ATCAY; NbExp=4; IntAct=EBI-357085, EBI-1783328; P07900:HSP90AA1; NbExp=9; IntAct=EBI-357085, EBI-296047; P08107:HSPA1B; NbExp=3; IntAct=EBI-357085, EBI-629985; P11142:HSPA8; NbExp=3; IntAct=EBI-357085, EBI-351896; P10636:MAPT; NbExp=2; IntAct=EBI-357085, EBI-366182; P61088:UBE2N; NbExp=3; IntAct=EBI-357085, EBI-1052908; Q7Z7E8:UBE2Q1; NbExp=3; IntAct=EBI-357085, EBI-1783287; P12504:vif (xeno); NbExp=2; IntAct=EBI-357085, EBI-779991; Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UNE7-1; Sequence=Displayed; Name=2; IsoId=Q9UNE7-2; Sequence=VSP_015947; Note=No experimental confirmation available; Highly expressed in skeletal muscle, heart, pancreas, brain and placenta. Detected in kidney, liver and lung. The TPR domain is essential for ubiquitination mediated by UBE2D1. Phosphorylated upon DNA damage, probably by ATM or ATR. Monoubiquitinated at Lys-2 following cell stress by UBE2W, promoting the interaction with ATXN3 (By similarity). Auto- ubiquitinated; mediated by UBE2D1 and UBE2D2. Antibodies against STUB1 are found in patients with chronic lymphocytic leukemia (CLL) and in colorectal cancer patients. Contains 3 TPR repeats. Contains 1 U-box domain. ubiquitin ligase complex protein polyubiquitination G-protein coupled receptor binding response to ischemia ubiquitin-protein transferase activity protein binding nucleus nucleoplasm cytoplasm endoplasmic reticulum cytosol DNA repair ubiquitin-dependent protein catabolic process misfolded or incompletely synthesized protein catabolic process cellular response to DNA damage stimulus protein ubiquitination transferase activity enzyme binding kinase binding Z disc ER-associated ubiquitin-dependent protein catabolic process negative regulation of transforming growth factor beta receptor signaling pathway Hsp70 protein binding ubiquitin-dependent SMAD protein catabolic process protein binding, bridging TPR domain binding endoplasmic reticulum unfolded protein response heat shock protein binding ubiquitin conjugating enzyme complex positive regulation of protein ubiquitination ubiquitin protein ligase binding regulation of protein stability regulation of glucocorticoid metabolic process negative regulation of protein binding positive regulation of proteasomal ubiquitin-dependent protein catabolic process ubiquitin-ubiquitin ligase activity cellular response to heat ERBB2 signaling pathway nuclear inclusion body protein homodimerization activity proteasome-mediated ubiquitin-dependent protein catabolic process SMAD binding tau protein binding chaperone binding positive regulation of ubiquitin-protein transferase activity protein maturation misfolded protein binding protein autoubiquitination Hsp90 protein binding ubiquitin protein ligase activity chaperone-mediated autophagy protein K63-linked ubiquitination cellular response to misfolded protein cellular response to hypoxia positive regulation of chaperone-mediated protein complex assembly uc002cit.1 uc002cit.2 uc002cit.3 uc002cit.4 uc002cit.5 
ENST00000219596.6 MEFV ENST00000219596.6 Homo sapiens MEFV innate immuity regulator, pyrin (MEFV), transcript variant 1, mRNA. (from RefSeq NM_000243) D3DUC0 ENST00000219596.1 ENST00000219596.2 ENST00000219596.3 ENST00000219596.4 ENST00000219596.5 MEF MEFV_HUMAN NM_000243 O15553 Q3MJ84 Q96PN4 Q96PN5 uc002cun.1 uc002cun.2 This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]. Probably controls the inflammatory response in myelomonocytic cells at the level of the cytoskeleton organization. Interacts with PSTPIP1. Isoform 1: Cytoplasm, cytoskeleton. Note=Associated with microtubules and with the filamentous actin of perinuclear filaments and peripheral lamellar ruffles. Isoform 2: Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=FL; IsoId=O15553-2; Sequence=Displayed; Name=2; Synonyms=D2; IsoId=O15553-1; Sequence=VSP_008223; Expressed in peripheral blood leukocytes, particularly in mature granulocytes and to a lesser extent in monocytes but not in lymphocytes. Detected in spleen, lung and muscle, probably as a result of leukocyte infiltration in these tissues. Not expressed in thymus, prostate, testis, ovary, small intestine, colon, heart, brain, placenta, liver, kidney, pancreas. Expression detected in several myeloid leukemic, colon cancer, and prostate cancer cell lines. First detected in bone marrow promyelocytes. Expression increases throughout myelocyte differentiation and peaks in the mature myelomonocytic cells. In monocytes, by treatment with colchicine and IFN- alpha, and by the proinflammatory cytokines IFNG/IFN-gamma, TNF and bacterial lipopolysaccharides (LPS). Repressed in monocytes by the antiinflammatory cytokines IL10/interleukin-10, TGFB1 and IL4/interleukin-4. In neutrophils, colchicine, TNF, bacterial lipopolysaccharides (LPS), IL10/interleukin-10, INF-alpha and IL4/interleukin-4 have no effect on expression. IFNG/IFN-gamma increases expression in neutrophils. Defects in MEFV are the cause of familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]. ARFMF is an inherited disorder characterized by recurrent episodic fever, serosal inflammation and pain in the abdomen, chest or joints. ARFMF is frequently complicated by amyloidosis, which leads to renal failure and can be prophylactically treated with colchicine. ARFMF primarily affects ancestral ethnic groups living around the Mediterranean basin: North African Jews, Armenians, Arabs and Turks. The disease is also distributed in other populations including Greeks, Cypriots, Italians and Spanish, although at a lower prevalence. Defects in MEFV are the cause of familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610]. ADFMF is characterized by periodic fever, serosal inflammation and pain in the abdomen, chest or joints as seen also in the autosomal recessive form of the disease. It is associated with renal amyloidosis and characterized by colchicine unresponsiveness. Contains 1 B box-type zinc finger. Contains 1 B30.2/SPRY domain. Contains 1 DAPIN domain. Name=INFEVERS; Note=Repertory of FMF and hereditary autoinflammatory disorders mutations; URL="http://fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=1"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MEFV"; ruffle immune system process actin binding protein binding nucleus cytoplasm autophagosome cytosol cytoskeleton microtubule microtubule associated complex inflammatory response zinc ion binding positive regulation of autophagy lamellipodium cytoplasmic vesicle negative regulation of interleukin-1 beta production negative regulation of interleukin-12 production response to interferon-gamma identical protein binding cell projection innate immune response metal ion binding negative regulation of inflammatory response negative regulation of macrophage inflammatory protein 1 alpha production negative regulation of cytokine production involved in inflammatory response negative regulation of NLRP3 inflammasome complex assembly positive regulation of cysteine-type endopeptidase activity uc002cun.1 uc002cun.2 
ENST00000219599.8 CRYM ENST00000219599.8 Homo sapiens crystallin mu (CRYM), transcript variant 1, mRNA. (from RefSeq NM_001888) CRYM_HUMAN D5MNX0 ENST00000219599.1 ENST00000219599.2 ENST00000219599.3 ENST00000219599.4 ENST00000219599.5 ENST00000219599.6 ENST00000219599.7 NM_001888 Q14894 Q5HYB7 THBP uc002dim.1 uc002dim.2 uc002dim.3 uc002dim.4 uc002dim.5 Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Mutations in this gene have been associated with autosomal dominant non-syndromic deafness. [provided by RefSeq, Sep 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BX648477.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## Specifically catalyzes the reduction of imine bonds in brain substrates that may include cystathionine ketimine (CysK) and lanthionine ketimine (LK). Binds thyroid hormone which is a strong reversible inhibitor. Presumably involved in the regulation of the free intracellular concentration of triiodothyronine and access to its nuclear receptors. Thiomorpholine 3-carboxylate + NAD(P)(+) = 3,4-dehydro-thiomorpholine-3-carboxylate + NAD(P)H. NAD or NADP. pH dependence: Optimum pH is 4.5; Homodimer. Cytoplasm. Expressed in neural tissue, muscle and kidney. Belongs to the ornithine cyclodeaminase family. negative regulation of transcription from RNA polymerase II promoter transcription corepressor activity protein binding nucleus cytoplasm mitochondrion peroxisomal matrix cytosol lysine catabolic process sensory perception of sound oxidoreductase activity thyroid hormone metabolic process hormone binding protein homodimerization activity thiomorpholine-carboxylate dehydrogenase activity NADP binding oxidation-reduction process extracellular exosome thyroid hormone binding thyroid hormone transport uc002dim.1 uc002dim.2 uc002dim.3 uc002dim.4 uc002dim.5 
ENST00000219611.7 CAPN15 ENST00000219611.7 Homo sapiens calpain 15 (CAPN15), mRNA. (from RefSeq NM_005632) B1B1M4 CAN15_HUMAN ENST00000219611.1 ENST00000219611.2 ENST00000219611.3 ENST00000219611.4 ENST00000219611.5 ENST00000219611.6 NM_005632 O75808 Q2KHS2 Q8WTY9 Q9BUW0 SOLH uc002chi.1 uc002chi.2 uc002chi.3 uc002chi.4 This gene encodes a protein containing zinc-finger-like repeats and a calpain-like protease domain. The encoded protein may function as a transcription factor, RNA-binding protein, or in protein-protein interactions during visual system development. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: U85647.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219611.7/ ENSP00000219611.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75808-1; Sequence=Displayed; Name=2; IsoId=O75808-2; Sequence=VSP_023361, VSP_023362; Note=No experimental confirmation available; Widely expressed with higher expression in brain. Belongs to the peptidase C2 family. Contains 1 calpain catalytic domain. Contains 5 RanBP2-type zinc fingers. calcium-dependent cysteine-type endopeptidase activity cytoplasm proteolysis peptidase activity cysteine-type peptidase activity hydrolase activity metal ion binding uc002chi.1 uc002chi.2 uc002chi.3 uc002chi.4 
ENST00000219660.6 AQP8 ENST00000219660.6 Homo sapiens aquaporin 8 (AQP8), mRNA. (from RefSeq NM_001169) AQP8_HUMAN ENST00000219660.1 ENST00000219660.2 ENST00000219660.3 ENST00000219660.4 ENST00000219660.5 NM_001169 O94778 Q8IUU3 Q9UIA4 uc002doc.1 uc002doc.2 uc002doc.3 uc002doc.4 uc002doc.5 Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 8 mRNA is found in pancreas and colon but not other tissues. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF067797.1, AB013456.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219660.6/ ENSP00000219660.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Forms a water-specific channel; mercury-sensitive. Not permeable to glycerol or urea. Membrane; Multi-pass membrane protein. Expressed only in pancreas and colon. Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA). Belongs to the MIP/aquaporin (TC 1.A.8) family. mitochondrion plasma membrane integral component of plasma membrane water transport water channel activity channel activity membrane integral component of membrane mitochondrial membrane apical part of cell transmembrane transport cellular response to cAMP uc002doc.1 uc002doc.2 uc002doc.3 uc002doc.4 uc002doc.5 
ENST00000219689.12 USP31 ENST00000219689.12 May recognize and hydrolyze the peptide bond at the C- terminal Gly of ubiquitin. Involved in the processing of poly- ubiquitin precursors as well as that of ubiquitinated proteins (By similarity). (from UniProt Q70CQ4) ENST00000219689.1 ENST00000219689.10 ENST00000219689.11 ENST00000219689.2 ENST00000219689.3 ENST00000219689.4 ENST00000219689.5 ENST00000219689.6 ENST00000219689.7 ENST00000219689.8 ENST00000219689.9 KIAA1203 NR_170599 Q6AW97 Q6ZTC0 Q6ZTN2 Q70CQ4 Q9ULL7 UBP31_HUMAN uc002dll.1 uc002dll.2 uc002dll.3 uc002dll.4 uc002dll.5 May recognize and hydrolyze the peptide bond at the C- terminal Gly of ubiquitin. Involved in the processing of poly- ubiquitin precursors as well as that of ubiquitinated proteins (By similarity). Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q70CQ4-1; Sequence=Displayed; Name=2; IsoId=Q70CQ4-2; Sequence=VSP_020459, VSP_020460, VSP_020461, VSP_020462; Note=No experimental confirmation available; Widely expressed. Belongs to the peptidase C19 family. Sequence=AK126752; Type=Frameshift; Positions=941; thiol-dependent ubiquitin-specific protease activity nucleus proteolysis ubiquitin-dependent protein catabolic process peptidase activity cysteine-type peptidase activity protein deubiquitination hydrolase activity thiol-dependent ubiquitinyl hydrolase activity uc002dll.1 uc002dll.2 uc002dll.3 uc002dll.4 uc002dll.5 
ENST00000219746.14 TOX3 ENST00000219746.14 Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA. (from RefSeq NM_001080430) B4DRD0 B5MCW4 CAGF9 ENST00000219746.1 ENST00000219746.10 ENST00000219746.11 ENST00000219746.12 ENST00000219746.13 ENST00000219746.2 ENST00000219746.3 ENST00000219746.4 ENST00000219746.5 ENST00000219746.6 ENST00000219746.7 ENST00000219746.8 ENST00000219746.9 NM_001080430 O15405 TNRC9 TOX3_HUMAN uc002egw.1 uc002egw.2 uc002egw.3 uc002egw.4 The protein encoded by this gene contains an HMG-box, indicating that it may be involved in bending and unwinding of DNA and alteration of chromatin structure. The C-terminus of the encoded protein is glutamine-rich due to CAG repeats in the coding sequence. A minor allele of this gene has been implicated in an elevated risk of breast cancer. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2009]. Transcriptional coactivator of the p300/CBP-mediated trancription complex. Activates transactivation through cAMP response element (CRE) sites. Protects against cell death by inducing antiapoptotic and repressing pro-apoptotic transcripts. Stimulates transcription from the estrogen-responsive or BCL-2 promoters. Required for depolarization-induced transcription activation of the C-FOS promoter in neurons. Associates with chromatin to the estrogen-responsive C3 promoter region. Homodimer. Interacts with CREB1; the interaction is not depolarization dependent. Interacts with CREBBP (via C-terminus) (By similarity). Interacts (via HGM box) with CITED1 (via C- terminus); the interaction increases estrogen-response element (ERE)-dependent transcription and protection against cell death. Interacts with CREB1 (phosphorylated form). Nucleus (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O15405-1; Sequence=Displayed; Name=2; IsoId=O15405-2; Sequence=VSP_043095, VSP_043096; Note=No experimental confirmation available; Expressed mainly in epithelial cells. Expressed in the central nervous system (CNS), in the ileum and within the brain in the frontal and occipital lobe. Up-regulated by GPR39 in neuronal cells. the C-terminus is required for calcium responsiveness but not for transactivation activity (By similarity). The N-terminus is absolutely necessary for transactivation activity (By similarity). Contains 1 HMG box DNA-binding domain. RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding chromatin binding protein binding nucleus regulation of transcription from RNA polymerase II promoter apoptotic process estrogen response element binding protein homodimerization activity regulation of apoptotic process negative regulation of neuron apoptotic process positive regulation of transcription, DNA-templated phosphoprotein binding uc002egw.1 uc002egw.2 uc002egw.3 uc002egw.4 
ENST00000219782.10 MAZ ENST00000219782.10 Homo sapiens MYC associated zinc finger protein (MAZ), transcript variant 2, mRNA. (from RefSeq NM_001042539) A8QJL9 ENST00000219782.1 ENST00000219782.2 ENST00000219782.3 ENST00000219782.4 ENST00000219782.5 ENST00000219782.6 ENST00000219782.7 ENST00000219782.8 ENST00000219782.9 MAZ_HUMAN NM_001042539 P56270 Q15703 Q99443 ZNF801 uc002dtx.1 uc002dtx.2 uc002dtx.3 uc002dtx.4 uc002dtx.5 May function as a transcription factor with dual roles in transcription initiation and termination. Binds to two sites, ME1a1 and ME1a2, within the MYC promoter having greater affinity for the former. Also binds to multiple G/C-rich sites within the promoter of the Sp1 family of transcription factors. Interacts with BPTF. P43146:DCC; NbExp=4; IntAct=EBI-1809742, EBI-1222919; P70211:Dcc (xeno); NbExp=2; IntAct=EBI-1809742, EBI-1798863; Q91562:dcc (xeno); NbExp=2; IntAct=EBI-1809742, EBI-1809954; Nucleus (Probable). Note=In brains of Alzheimer disease patients, present in a plaque-like structures. Present in kidney, liver and brain. In the brain, highest levels are found in motor cortex and midfrontal cortex (at protein level). Contains 6 C2H2-type zinc fingers. Sequence=AAB04121.1; Type=Erroneous initiation; Sequence=BAA12728.1; Type=Erroneous initiation; RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding nucleic acid binding DNA binding RNA binding protein binding nucleus regulation of transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter termination of RNA polymerase II transcription positive regulation of cell proliferation positive regulation of gene expression positive regulation of phosphatidylinositol 3-kinase signaling positive regulation of cell migration positive regulation of transcription, DNA-templated metal ion binding positive regulation of protein kinase B signaling negative regulation of apoptotic signaling pathway uc002dtx.1 uc002dtx.2 uc002dtx.3 uc002dtx.4 uc002dtx.5 
ENST00000219789.11 CDIPT ENST00000219789.11 Homo sapiens CDP-diacylglycerol--inositol 3-phosphatidyltransferase (CDIPT), transcript variant 1, mRNA. (from RefSeq NM_006319) CDIPT_HUMAN ENST00000219789.1 ENST00000219789.10 ENST00000219789.2 ENST00000219789.3 ENST00000219789.4 ENST00000219789.5 ENST00000219789.6 ENST00000219789.7 ENST00000219789.8 ENST00000219789.9 NM_006319 O14735 PIS PIS1 Q6FGU1 Q6ZN70 uc002dum.1 uc002dum.2 uc002dum.3 uc002dum.4 uc002dum.5 uc002dum.6 Phosphatidylinositol breakdown products are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. Two enzymes, CDP-diacylglycerol synthase and phosphatidylinositol synthase, are involved in the biosynthesis of phosphatidylinositol. Phosphatidylinositol synthase, a member of the CDP-alcohol phosphatidyl transferase class-I family, is an integral membrane protein found on the cytoplasmic side of the endoplasmic reticulum and the Golgi apparatus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]. Catalyzes the biosynthesis of phosphatidylinositol (PtdIns) as well as PtdIns:inositol exchange reaction. May thus act to reduce an excessive cellular PtdIns content. The exchange activity is due to the reverse reaction of PtdIns synthase and is dependent on CMP, which is tightly bound to the enzyme. CDP-diacylglycerol + myo-inositol = CMP + phosphatidyl-1D-myo-inositol. Magnesium. Manganese. Inhibited by PtdIns (product inhibition), phosphatidylinositol phosphate, and nucleoside di- and tri- phosphates. pH dependence: Optimum pH is 9.0; Temperature dependence: Optimum temperature is 50 degrees Celsius; Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity). Golgi apparatus membrane; Multi- pass membrane protein (By similarity). Cell membrane; Multi-pass membrane protein (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O14735-1; Sequence=Displayed; Name=2; IsoId=O14735-2; Sequence=VSP_013618, VSP_013619, VSP_013620; Widely expressed. Higher expression in adult liver and skeletal muscle, slightly lower levels seen in pancreas, kidney, lung, placenta, brain, heart, leukocyte, colon, small intestine, ovary, testis, prostate, thymus and spleen. In fetus, expressed in kidney, liver, lung and brain. Belongs to the CDP-alcohol phosphatidyltransferase class-I family. Golgi membrane CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity protein binding endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus plasma membrane lipid metabolic process phosphatidylinositol biosynthetic process phospholipid biosynthetic process membrane integral component of membrane transferase activity phosphotransferase activity, for other substituted phosphate groups diacylglycerol binding manganese ion binding carbohydrate binding alcohol binding CDP-diacylglycerol metabolic process uc002dum.1 uc002dum.2 uc002dum.3 uc002dum.4 uc002dum.5 uc002dum.6 
ENST00000219821.9 TMC5 ENST00000219821.9 Homo sapiens transmembrane channel like 5 (TMC5), transcript variant 3, mRNA. (from RefSeq NM_024780) ENST00000219821.1 ENST00000219821.2 ENST00000219821.3 ENST00000219821.4 ENST00000219821.5 ENST00000219821.6 ENST00000219821.7 ENST00000219821.8 NM_024780 Q68DK8 Q6UXY8 Q8IY20 Q8NHV6 Q9H8I7 TMC5_HUMAN UNQ8238/PRO33604 uc002dge.1 uc002dge.2 uc002dge.3 uc002dge.4 uc002dge.5 May function as ion channels, transporters or modulators of such. Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q6UXY8-1; Sequence=Displayed; Name=2; IsoId=Q6UXY8-2; Sequence=VSP_026046; Name=3; IsoId=Q6UXY8-3; Sequence=VSP_026044, VSP_026045; Name=4; IsoId=Q6UXY8-4; Sequence=VSP_026043; Note=No experimental confirmation available; Belongs to the TMC family. Sequence=BAB14629.1; Type=Erroneous initiation; Note=Translation N-terminally extended; ion channel activity integral component of plasma membrane ion transport mechanically-gated ion channel activity membrane integral component of membrane ion transmembrane transport transmembrane transport extracellular exosome uc002dge.1 uc002dge.2 uc002dge.3 uc002dge.4 uc002dge.5 
ENST00000219837.12 KNOP1 ENST00000219837.12 Homo sapiens lysine rich nucleolar protein 1 (KNOP1), transcript variant 12, mRNA. (from RefSeq NM_001348537) C16orf88 CP088_HUMAN ENST00000219837.1 ENST00000219837.10 ENST00000219837.11 ENST00000219837.2 ENST00000219837.3 ENST00000219837.4 ENST00000219837.5 ENST00000219837.6 ENST00000219837.7 ENST00000219837.8 ENST00000219837.9 NM_001348537 O43328 Q1ED39 Q5FWF3 TSG118 uc002dgq.1 uc002dgq.2 uc002dgq.3 uc002dgq.4 uc002dgq.5 The protein encoded by this gene is a nucleolar protein that interacts with zinc finger 106 protein. The encoded protein has several of the same characteristics as nucleostemin and may be involved in testis development. [provided by RefSeq, Feb 2017]. Interacts with ZFP106 (By similarity). Nucleus, nucleolus (By similarity). Sequence=AAC05805.1; Type=Erroneous initiation; Sequence=AAH89430.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; RNA binding nucleus nucleolus uc002dgq.1 uc002dgq.2 uc002dgq.3 uc002dgq.4 uc002dgq.5 
ENST00000220003.14 CSK ENST00000220003.14 Non-receptor tyrosine-protein kinase that plays an important role in the regulation of cell growth, differentiation, migration and immune response. Phosphorylates tyrosine residues located in the C-terminal tails of Src-family kinases (SFKs) including LCK, SRC, HCK, FYN, LYN or YES1. Upon tail phosphorylation, Src-family members engage in intramolecular interactions between the phosphotyrosine tail and the SH2 domain that result in an inactive conformation. To inhibit SFKs, CSK is recruited to the plasma membrane via binding to transmembrane proteins or adapter proteins located near the plasma membrane. Suppresses signaling by various surface receptors, including T- cell receptor (TCR) and B-cell receptor (BCR) by phosphorylating and maintaining inactive several positive effectors such as FYN or LCK. (from UniProt P41240) CSK_HUMAN ENST00000220003.1 ENST00000220003.10 ENST00000220003.11 ENST00000220003.12 ENST00000220003.13 ENST00000220003.2 ENST00000220003.3 ENST00000220003.4 ENST00000220003.5 ENST00000220003.6 ENST00000220003.7 ENST00000220003.8 ENST00000220003.9 NR_170550 P41240 Q2M3N2 Q6FGZ6 uc002ays.1 uc002ays.2 uc002ays.3 uc002ays.4 Non-receptor tyrosine-protein kinase that plays an important role in the regulation of cell growth, differentiation, migration and immune response. Phosphorylates tyrosine residues located in the C-terminal tails of Src-family kinases (SFKs) including LCK, SRC, HCK, FYN, LYN or YES1. Upon tail phosphorylation, Src-family members engage in intramolecular interactions between the phosphotyrosine tail and the SH2 domain that result in an inactive conformation. To inhibit SFKs, CSK is recruited to the plasma membrane via binding to transmembrane proteins or adapter proteins located near the plasma membrane. Suppresses signaling by various surface receptors, including T- cell receptor (TCR) and B-cell receptor (BCR) by phosphorylating and maintaining inactive several positive effectors such as FYN or LCK. ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. Homodimer (via SH3-domain). Interacts with PTPN8 (By similarity). Interacts with phosphorylated SIT1, PAG1, LIME1 and TGFB1I1; these interactions serve to recruit CSK to the membrane where it can phosphorylate and inhibit Src-family kinases. Interacts with SRCIN1. Interacts with RHOH. Interacts (via SH2 domain) with SCIMP. P00523:SRC (xeno); NbExp=6; IntAct=EBI-1380630, EBI-848039; Cytoplasm (By similarity). Cell membrane (By similarity). Note=Mainly cytoplasmic, also present in lipid rafts (By similarity). Expressed in lung and macrophages. The architecture of this protein is similar to that of Src-family kinases (SFKs) with one N-terminal SH3 domain, one SH2 domain, and a C-terminal kinase domain. Phosphorylated at Ser-364 by PKA, leading to increased activity. Autophosphorylated. Belongs to the protein kinase superfamily. Tyr protein kinase family. CSK subfamily. Contains 1 protein kinase domain. Contains 1 SH2 domain. Contains 1 SH3 domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/csk/"; nucleotide binding adaptive immune response immune system process protein kinase activity protein tyrosine kinase activity non-membrane spanning protein tyrosine kinase activity protein binding ATP binding cytoplasm cytosol plasma membrane cell-cell junction protein phosphorylation brain development protein C-terminus binding negative regulation of cell proliferation negative regulation of low-density lipoprotein particle clearance membrane kinase activity phosphorylation transferase activity peptidyl-tyrosine phosphorylation protein phosphatase binding T cell costimulation negative regulation of interleukin-6 production negative regulation of kinase activity protein kinase A catalytic subunit binding adherens junction organization identical protein binding negative regulation of Golgi to plasma membrane protein transport positive regulation of MAP kinase activity membrane raft negative regulation of bone resorption protein autophosphorylation metal ion binding oligodendrocyte differentiation negative regulation of phagocytosis T cell receptor signaling pathway regulation of Fc receptor mediated stimulatory signaling pathway extracellular exosome proline-rich region binding negative regulation of ERK1 and ERK2 cascade cellular response to peptide hormone stimulus uc002ays.1 uc002ays.2 uc002ays.3 uc002ays.4 
ENST00000220058.9 MTFMT ENST00000220058.9 Homo sapiens mitochondrial methionyl-tRNA formyltransferase (MTFMT), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_139242) ENST00000220058.1 ENST00000220058.2 ENST00000220058.3 ENST00000220058.4 ENST00000220058.5 ENST00000220058.6 ENST00000220058.7 ENST00000220058.8 FMT FMT1 FMT_HUMAN NM_139242 Q96DP5 uc002aof.1 uc002aof.2 uc002aof.3 uc002aof.4 uc002aof.5 uc002aof.6 The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. [provided by RefSeq, Jun 2011]. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.186666.1, SRR3476690.992099.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000220058.9/ ENSP00000220058.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Formylates methionyl-tRNA in mitochondria. A single tRNA(Met) gene gives rise to both an initiator and an elongator species via an unknown mechanism (By similarity). 10-formyltetrahydrofolate + L-methionyl- tRNA(fMet) = tetrahydrofolate + N-formylmethionyl-tRNA(fMet). Mitochondrion (By similarity). Composed of an N- and a C-terminal domain. The N-terminal domain carries the tetrahydrofolate (THF)-binding site and the C- terminal domain is presumably involved in positioning the Met-tRNA substrate for the formylation reaction. Belongs to the fmt family. Sequence=AAH16630.2; Type=Erroneous initiation; Sequence=AAH33687.1; Type=Erroneous initiation; Sequence=BAB70984.1; Type=Erroneous initiation; catalytic activity methionyl-tRNA formyltransferase activity mitochondrion translation translational initiation biosynthetic process transferase activity hydroxymethyl-, formyl- and related transferase activity conversion of methionyl-tRNA to N-formyl-methionyl-tRNA uc002aof.1 uc002aof.2 uc002aof.3 uc002aof.4 uc002aof.5 uc002aof.6 
ENST00000220062.9 RASL12 ENST00000220062.9 Homo sapiens RAS like family 12 (RASL12), transcript variant 1, mRNA. (from RefSeq NM_016563) B2RC29 ENST00000220062.1 ENST00000220062.2 ENST00000220062.3 ENST00000220062.4 ENST00000220062.5 ENST00000220062.6 ENST00000220062.7 ENST00000220062.8 NM_016563 Q9NYN1 RASLC_HUMAN RIS uc002aoi.1 uc002aoi.2 uc002aoi.3 Belongs to the small GTPase superfamily. Ras family. nucleotide binding GTPase activity calmodulin binding GTP binding plasma membrane signal transduction Ras protein signal transduction membrane GDP binding uc002aoi.1 uc002aoi.2 uc002aoi.3 
ENST00000220244.7 CEMIP ENST00000220244.7 Homo sapiens cell migration inducing hyaluronidase 1 (CEMIP), transcript variant 3, mRNA. (from RefSeq NM_018689) ENST00000220244.1 ENST00000220244.2 ENST00000220244.3 ENST00000220244.4 ENST00000220244.5 ENST00000220244.6 K1199_HUMAN KIAA1199 NM_018689 Q6L9J5 Q8WUJ3 Q9H1K5 Q9NPN9 Q9ULM1 uc002bfw.1 uc002bfw.2 May be involved in hearing. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8WUJ3-1; Sequence=Displayed; Name=2; IsoId=Q8WUJ3-2; Sequence=VSP_009814, VSP_009815; Note=No experimental confirmation available; Weakly expressed. In ear, it is specifically expressed in inner ear. Expressed in cochlea and vestibule tissues. Belongs to the TMEM2 family. Contains 1 G8 domain. Contains 4 PbH1 repeats. hyalurononglucosaminidase activity protein binding hyaluronic acid binding extracellular region nucleus cytoplasm endoplasmic reticulum plasma membrane clathrin-coated pit sensory perception of sound metabolic process positive regulation of peptidyl-threonine phosphorylation membrane hydrolase activity hydrolase activity, acting on glycosyl bonds hyaluronan biosynthetic process hyaluronan catabolic process positive regulation of cell migration clathrin-coated vesicle membrane clathrin heavy chain binding clathrin-coated endocytic vesicle ER retention sequence binding positive regulation of release of sequestered calcium ion into cytosol positive regulation of protein targeting to membrane positive regulation of protein kinase C activity uc002bfw.1 uc002bfw.2 
ENST00000220325.9 EHD4 ENST00000220325.9 Homo sapiens EH domain containing 4 (EHD4), mRNA. (from RefSeq NM_139265) EHD4_HUMAN ENST00000220325.1 ENST00000220325.2 ENST00000220325.3 ENST00000220325.4 ENST00000220325.5 ENST00000220325.6 ENST00000220325.7 ENST00000220325.8 FKSG7 HCA10 HCA11 NM_139265 PAST4 Q9H223 Q9HAR1 Q9NZN2 uc001zot.1 uc001zot.2 uc001zot.3 uc001zot.4 uc001zot.5 Plays a role in early endosomal transport. Homooligomer, and heterooligomer with EHD1, EHD2 and EHD3. Early endosome membrane; Peripheral membrane protein. Recycling endosome membrane; Peripheral membrane protein. Highly expressed in pancreas and heart. The EH domain interacts with Asn-Pro-Phe (NPF) motifs of target proteins (By similarity). Contains 1 EF-hand domain. Contains 1 EH domain. nucleotide binding nucleic acid binding calcium ion binding protein binding ATP binding GTP binding nucleus endosome endoplasmic reticulum plasma membrane pinocytosis membrane regulation of endocytosis early endosome membrane endocytic recycling cadherin binding metal ion binding perinuclear region of cytoplasm positive regulation of peptidyl-tyrosine phosphorylation protein homooligomerization recycling endosome membrane extracellular exosome cellular response to growth factor stimulus uc001zot.1 uc001zot.2 uc001zot.3 uc001zot.4 uc001zot.5 
ENST00000220420.10 TGM5 ENST00000220420.10 Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA. (from RefSeq NM_201631) ENST00000220420.1 ENST00000220420.2 ENST00000220420.3 ENST00000220420.4 ENST00000220420.5 ENST00000220420.6 ENST00000220420.7 ENST00000220420.8 ENST00000220420.9 NM_201631 O43548 O43549 Q0VF40 Q9UEZ4 TGM5_HUMAN TGMX uc001zrd.1 uc001zrd.2 uc001zrd.3 This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009]. Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Contributes to the formation of the cornified cell envelope of keratinocytes. Protein glutamine + alkylamine = protein N(5)- alkylglutamine + NH(3). Binds 1 calcium ion per subunit (By similarity). Cytoplasm. Note=Associated with intermediate filaments. Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=O43548-1; Sequence=Displayed; Name=Short; IsoId=O43548-2; Sequence=VSP_006415; Expressed in foreskin keratinocytes. By 12-O-tetradecanoylphorbol-13-acetate (TPA) and calcium in NHEK cells. Defects in TGM5 are a cause of peeling skin syndrome type A (APSS) [MIM:609796]. A non-inflammatory form of peeling skin syndrome, a genodermatosis characterized by the continuous shedding of the outer layers of the epidermis. In APSS patients, skin peeling is strictly limited to the dorsa of the hands and feet, and it is accompanied by accompanied by painless erythema and spontaneous non-scarring healing. Ultrastructural and histological analysis shows a level of blistering high in the epidermis at the stratum granulosum-stratum corneum junction. Belongs to the transglutaminase superfamily. Transglutaminase family. protein-glutamine gamma-glutamyltransferase activity cytoplasm plasma membrane cellular protein modification process epidermis development transferase activity transferase activity, transferring acyl groups peptide cross-linking metal ion binding cornification uc001zrd.1 uc001zrd.2 uc001zrd.3 
ENST00000220478.8 SCG3 ENST00000220478.8 Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA. (from RefSeq NM_013243) A8K2B0 B3KQP6 B4DK99 ENST00000220478.1 ENST00000220478.2 ENST00000220478.3 ENST00000220478.4 ENST00000220478.5 ENST00000220478.6 ENST00000220478.7 F5H3R8 NM_013243 Q8WXD2 Q96C83 Q96GE8 Q9Y6G7 SCG3_HUMAN UNQ2502/PRO5990 uc002abh.1 uc002abh.2 uc002abh.3 uc002abh.4 uc002abh.5 The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Granins may serve as precursors for biologically active peptides. Some granins have been shown to function as helper proteins in sorting and proteolytic processing of prohormones; however, the function of this protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. Interacts with CHGA (By similarity). Cytoplasmic vesicle, secretory vesicle lumen (By similarity). Cytoplasmic vesicle, secretory vesicle membrane; Peripheral membrane protein (By similarity). Secreted. Note=Associated with the secretory granule membrane through direct binding to cholesterol-enriched lipid rafts in intragranular conditions (By similarity). Neuroendocrine and endocrine secretory granules. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8WXD2-1; Sequence=Displayed; Name=2; IsoId=Q8WXD2-2; Sequence=VSP_042876; Note=No experimental confirmation available; Expressed in brain, heart, kidney, liver and skeletal muscle. Polymorphisms in the 5'-flanking region and in intron 1 may have an effect on transcriptional activity and be associated with an increase in subcutaneous, but not visceral, fat area. Hence, may influence the risk of obesity. platelet degranulation RNA binding extracellular region endoplasmic reticulum lumen membrane transport vesicle transport vesicle membrane secretory granule membrane cytoplasmic vesicle protein localization to secretory granule secretory granule lumen post-translational protein modification cellular protein metabolic process uc002abh.1 uc002abh.2 uc002abh.3 uc002abh.4 uc002abh.5 
ENST00000220496.9 DNAJC17 ENST00000220496.9 Homo sapiens DnaJ heat shock protein family (Hsp40) member C17 (DNAJC17), mRNA. (from RefSeq NM_018163) DJC17_HUMAN ENST00000220496.1 ENST00000220496.2 ENST00000220496.3 ENST00000220496.4 ENST00000220496.5 ENST00000220496.6 ENST00000220496.7 ENST00000220496.8 NM_018163 Q9NVM6 uc001zms.1 uc001zms.2 uc001zms.3 uc001zms.4 Contains 1 J domain. Contains 1 RRM (RNA recognition motif) domain. negative regulation of transcription from RNA polymerase II promoter nucleic acid binding RNA binding nucleus cytoplasm toxin transport uc001zms.1 uc001zms.2 uc001zms.3 uc001zms.4 
ENST00000220507.5 RHOV ENST00000220507.5 Homo sapiens ras homolog family member V (RHOV), mRNA. (from RefSeq NM_133639) ARHV ENST00000220507.1 ENST00000220507.2 ENST00000220507.3 ENST00000220507.4 NM_133639 Q2KHQ5 Q8TDW6 Q96L33 RHOV_HUMAN WRCH2 uc001znd.1 uc001znd.2 uc001znd.3 uc001znd.4 Plays a role in the control of the actin cytoskeleton via activation of the JNK pathway (By similarity). Magnesium (By similarity). Interacts with PAK2 (By similarity). Cell membrane; Lipid-anchor; Cytoplasmic side (By similarity). Endosome membrane; Lipid-anchor; Cytoplasmic side (By similarity). Note=Treatment with TNF activates endosomal but not plasma membrane RHOV (By similarity). Highly expressed in pancreas, placenta, and fetal brain. Belongs to the small GTPase superfamily. Rho family. nucleotide binding GTPase activity protein binding GTP binding cytoplasm endosome cytosol plasma membrane cell cortex endocytosis actin filament organization establishment or maintenance of cell polarity small GTPase mediated signal transduction Rho protein signal transduction regulation of cell shape endosome membrane membrane protein kinase binding cell projection assembly actin cytoskeleton organization Cdc42 protein signal transduction regulation of actin cytoskeleton organization cell projection metal ion binding regulation of small GTPase mediated signal transduction uc001znd.1 uc001znd.2 uc001znd.3 uc001znd.4 
ENST00000220509.10 VPS18 ENST00000220509.10 Homo sapiens VPS18 core subunit of CORVET and HOPS complexes (VPS18), mRNA. (from RefSeq NM_020857) ENST00000220509.1 ENST00000220509.2 ENST00000220509.3 ENST00000220509.4 ENST00000220509.5 ENST00000220509.6 ENST00000220509.7 ENST00000220509.8 ENST00000220509.9 KIAA1475 NM_020857 Q8TCG0 Q96DI3 Q9H268 Q9P253 VPS18_HUMAN uc001zne.1 uc001zne.2 uc001zne.3 uc001zne.4 Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps18 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AL713725.1, AB040908.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000220509.10/ ENSP00000220509.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes. Interacts with HOOK1 (By similarity). Part of a large heterooligomeric complex together with VPS11, VPS16 and VPS33A. Interacts with STX7. Q7L1V2:MON1B; NbExp=2; IntAct=EBI-1053363, EBI-2655311; Late endosome membrane; Peripheral membrane protein; Cytoplasmic side. Lysosome membrane; Peripheral membrane protein; Cytoplasmic side. Note=Cytoplasmic, peripheral membrane protein associated with late endosomes/lysosomes. Ubiquitous. Expression was highest in heart and low in lung. Belongs to the VPS18 family. Contains 1 clathrin repeat. Contains 1 RING-type zinc finger. Sequence=AAH01513.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites; Sequence=BAA95999.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; actin binding protein binding lysosome lysosomal membrane endosome early endosome late endosome autophagosome actin filament intracellular protein transport vesicle docking involved in exocytosis autophagy endosome organization vacuole organization lysosome organization endosome to lysosome transport protein transport membrane vesicle-mediated transport syntaxin binding AP-3 adaptor complex clathrin-coated vesicle protein binding, bridging HOPS complex cytoplasmic vesicle late endosome membrane CORVET complex regulation of SNARE complex assembly viral entry into host cell metal ion binding presynapse glutamatergic synapse regulation of synaptic vesicle exocytosis uc001zne.1 uc001zne.2 uc001zne.3 uc001zne.4 
ENST00000220514.8 OIP5 ENST00000220514.8 Homo sapiens Opa interacting protein 5 (OIP5), transcript variant 1, mRNA. (from RefSeq NM_007280) ENST00000220514.1 ENST00000220514.2 ENST00000220514.3 ENST00000220514.4 ENST00000220514.5 ENST00000220514.6 ENST00000220514.7 MIS18B MS18B_HUMAN NM_007280 O43482 Q96BX7 uc001znp.1 uc001znp.2 uc001znp.3 uc001znp.4 The protein encoded by this gene localizes to centromeres, where it is essential for recruitment of CENP-A through the mediator Holliday junction recognition protein. Expression of this gene is upregulated in several cancers, making it a putative therapeutic target. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]. Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis. Homodimer, and heterodimer with MIS18A. Identified in a complex containing MIS18A, MIS18B, MIS18BP1, RBBP7 and RBBP4. Binds outer membrane protein OpaP from Neisseria gonorrhoeae. P04049:RAF1; NbExp=4; IntAct=EBI-536879, EBI-365996; Nucleus. Chromosome. Chromosome, centromere. Note=Associated with centromeres in interphase cells, from late anaphase to the G1 phase. Not detected on centromeres during earlier phases of mitosis. Associated with chromatin. Sequence=AAC39561.1; Type=Erroneous initiation; chromosome, centromeric region chromatin protein binding nucleus nucleoplasm chromosome cytosol cell cycle chromosome segregation cell communication chromocenter Cajal body nuclear speck CENP-A containing nucleosome assembly identical protein binding metal ion binding cell division uc001znp.1 uc001znp.2 uc001znp.3 uc001znp.4 
ENST00000220531.9 BLOC1S6 ENST00000220531.9 Homo sapiens biogenesis of lysosomal organelles complex 1 subunit 6 (BLOC1S6), transcript variant 5, non-coding RNA. (from RefSeq NR_132352) BL1S6_HUMAN ENST00000220531.1 ENST00000220531.2 ENST00000220531.3 ENST00000220531.4 ENST00000220531.5 ENST00000220531.6 ENST00000220531.7 ENST00000220531.8 NR_132352 PA PLDN Q9UL45 uc001zvq.1 uc001zvq.2 uc001zvq.3 uc001zvq.4 uc001zvq.5 uc001zvq.6 The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]. Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. May play a role in intracellular vesicle trafficking, particularly in the vesicle-docking and fusion process. Interacts with BLOC1S4 and DTNBP1/BLOC1S7 (By similarity). Homodimer. Component of the biogenesis of lysosome- related organelles complex 1 (BLOC-1) composed of BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Octamer composed of one copy each BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. The BLOC-1 complex associates with the AP-3 protein complex and membrane protein cargos. Interacts with BLOC1S5, F-actin, SNAP25 isoform 1 and isoform 2, SNAP47 and STX12. Self; NbExp=3; IntAct=EBI-465781, EBI-465781; P78537:BLOC1S1; NbExp=10; IntAct=EBI-465781, EBI-348630; Q6QNY1:BLOC1S2; NbExp=3; IntAct=EBI-465781, EBI-465872; Q6QNY0:BLOC1S3; NbExp=3; IntAct=EBI-465781, EBI-465930; Q9NUP1:CNO; NbExp=5; IntAct=EBI-465781, EBI-465852; Q96EV8:DTNBP1; NbExp=6; IntAct=EBI-465781, EBI-465804; Q8TDH9:MUTED; NbExp=2; IntAct=EBI-465781, EBI-465861; O95295:SNAPIN; NbExp=2; IntAct=EBI-465781, EBI-296723; Cytoplasm. Endomembrane system; Peripheral membrane protein. Note=It can exist as a soluble protein as well as a peripheral membrane protein. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9UL45-1; Sequence=Displayed; Name=2; IsoId=Q9UL45-2; Sequence=VSP_009293, VSP_009294; Note=May be due to a competing acceptor splice site; Name=3; IsoId=Q9UL45-3; Sequence=Not described; Note=May be due to exons 2 and 3 skipping. No experimental confirmation available; Widely expressed. Phosphorylated. Defects in BLOC1S6 are the cause of Hermansky-Pudlak syndrome type 9 (HPS9) [MIM:614171]. A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. Belongs to the BLOC1S6 family. protein binding cytoplasm cytosol anterograde axonal transport membrane synaptic vesicle docking extrinsic component of membrane syntaxin binding transport vesicle BLOC-1 complex neuron projection development melanosome transport melanosome organization endosome to melanosome transport identical protein binding protein homodimerization activity anterograde synaptic vesicle transport positive regulation of pigment cell differentiation actin filament binding presynapse axon cytoplasm SNARE complex uc001zvq.1 uc001zvq.2 uc001zvq.3 uc001zvq.4 uc001zvq.5 uc001zvq.6 
ENST00000220592.10 AGO2 ENST00000220592.10 Homo sapiens argonaute RISC catalytic component 2 (AGO2), transcript variant 1, mRNA. (from RefSeq NM_012154) AGO2_HUMAN EIF2C2 ENST00000220592.1 ENST00000220592.2 ENST00000220592.3 ENST00000220592.4 ENST00000220592.5 ENST00000220592.6 ENST00000220592.7 ENST00000220592.8 ENST00000220592.9 NM_012154 Q8TCZ5 Q8WV58 Q96ID1 Q9UKV8 uc003yvm.1 uc003yvm.2 uc003yvm.3 uc003yvm.4 uc003yvm.5 uc003yvm.6 This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. Required for RNA-mediated gene silencing (RNAi) by the RNA-induced silencing complex (RISC). The 'minimal RISC' appears to include EIF2C2/AGO2 bound to a short guide RNA such as a microRNA (miRNA) or short interfering RNA (siRNA). These guide RNAs direct RISC to complementary mRNAs that are targets for RISC- mediated gene silencing. The precise mechanism of gene silencing depends on the degree of complementarity between the miRNA or siRNA and its target. Binding of RISC to a perfectly complementary mRNA generally results in silencing due to endonucleolytic cleavage of the mRNA specifically by EIF2C2/AGO2. Binding of RISC to a partially complementary mRNA results in silencing through inhibition of translation, and this is independent of endonuclease activity. May inhibit translation initiation by binding to the 7- methylguanosine cap, thereby preventing the recruitment of the translation initiation factor eIF4-E. May also inhibit translation initiation via interaction with EIF6, which itself binds to the 60S ribosomal subunit and prevents its association with the 40S ribosomal subunit. The inhibition of translational initiation leads to the accumulation of the affected mRNA in cytoplasmic processing bodies (P-bodies), where mRNA degradation may subsequently occur. In some cases RISC-mediated translational repression is also observed for miRNAs that perfectly match the 3' untranslated region (3'-UTR). Can also up-regulate the translation of specific mRNAs under certain growth conditions. Binds to the AU element of the 3'-UTR of the TNF (TNF-alpha) mRNA and up-regulates translation under conditions of serum starvation. Also required for transcriptional gene silencing (TGS), in which short RNAs known as antigene RNAs or agRNAs direct the transcriptional repression of complementary promoter regions. Endonucleolytic cleavage to 5'- phosphomonoester. Inhibited by EDTA. Kinetic parameters: KM=1.1 nM for a synthetic 21-nucleotide single-stranded RNA; Interacts with DICER1 through its Piwi domain and with TARBP2 during assembly of the RNA-induced silencing complex (RISC). Together, DICER1, EIF2C2/AGO2 and TARBP2 constitute the trimeric RISC loading complex (RLC), or micro-RNA (miRNA) loading complex (miRLC). Within the RLC/miRLC, DICER1 and TARBP2 are required to process precursor miRNAs (pre-miRNAs) to mature miRNAs and then load them onto EIF2C2/AGO2. EIF2C2/AGO2 bound to the mature miRNA constitutes the minimal RISC and may subsequently dissociate from DICER1 and TARBP2. Note however that the term RISC has also been used to describe the trimeric RLC/miRLC. The formation of RISC complexes containing siRNAs rather than miRNAs appears to occur independently of DICER1. Interacts with EIF2C1/AGO1. Also interacts with DDB1, DDX5, DDX6, DDX20, DHX30, DHX36, DDX47, DHX9, EIF6, ELAVL, FXR1, GEMIN4, HNRNPF, IGF2BP1, ILF3, IMP8, MATR3, MOV10, PABPC1, PRMT5, P4HA1, P4HB, RBM4, SART3, TNRC6A, TNRC6B, UPF1 and YBX1. Interacts with the P-body components DCP1A and XRN1. Associates with polysomes and messenger ribonucleoproteins (mNRPs). Interacts with RBM4; the interaction is modulated under stress-induced conditions, occurs under both cell proliferation and differentiation conditions and in a RNA- and phosphorylation-independent manner. Interacts with LIMD1, WTIP and AJUBA. Interacts with TRIM71. Q96C10:DHX58; NbExp=2; IntAct=EBI-528269, EBI-744193; Q9UPY3:DICER1; NbExp=6; IntAct=EBI-528269, EBI-395506; O15397:IPO8; NbExp=3; IntAct=EBI-528269, EBI-358808; Q9UHD2:TBK1; NbExp=2; IntAct=EBI-528269, EBI-356402; A7MCY6:TBKBP1; NbExp=2; IntAct=EBI-528269, EBI-359969; Cytoplasm, P-body. Nucleus. Note=Translational repression of mRNAs results in their recruitment to P-bodies. Translocation to the nucleus requires IMP8. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UKV8-1; Sequence=Displayed; Name=2; IsoId=Q9UKV8-2; Sequence=VSP_037001; Note=No experimental confirmation available; The Piwi domain may perform RNA cleavage by a mechanism similar to that of RNase H. However, while RNase H utilizes a triad of Asp-Asp-Glu (DDE) for metal ion coordination, this protein appears to utilize a triad of Asp-Asp-His (DDH). Hydroxylated. 4-hydroxylation appears to enhance protein stability but is not required for miRNA-binding or endonuclease activity. Belongs to the argonaute family. Ago subfamily. Contains 1 PAZ domain. Contains 1 Piwi domain. Sequence=AAH07633.1; Type=Erroneous initiation; Sequence=AAL76093.1; Type=Miscellaneous discrepancy; Note=cDNA contains a duplication of an internal sequence at the 5' end; Sequence=BC125214; Type=Frameshift; Positions=450; RNA 7-methylguanosine cap binding P-body RNA polymerase II core binding core promoter binding nucleic acid binding RNA binding double-stranded RNA binding single-stranded RNA binding mRNA binding translation initiation factor activity nuclease activity endonuclease activity endoribonuclease activity protein binding nucleus nucleoplasm cytoplasm cytosol polysome mRNA cap binding complex regulation of transcription, DNA-templated translation translational initiation regulation of translation Wnt signaling pathway, calcium modulating pathway protein C-terminus binding post-embryonic development RNA secondary structure unwinding miRNA metabolic process positive regulation of gene expression negative regulation of gene expression membrane RISC complex hydrolase activity endoribonuclease activity, producing 5'-phosphomonoesters cell junction production of siRNA involved in RNA interference dendrite gene silencing by RNA pre-miRNA processing siRNA loading onto RISC involved in RNA interference posttranscriptional gene silencing by RNA production of miRNAs involved in gene silencing by miRNA siRNA binding miRNA binding miRNA mediated inhibition of translation mRNA cleavage involved in gene silencing by miRNA miRNA loading onto RISC involved in gene silencing by miRNA negative regulation of amyloid precursor protein biosynthetic process positive regulation of angiogenesis positive regulation of transcription from RNA polymerase II promoter negative regulation of translational initiation metal ion binding positive regulation of nuclear-transcribed mRNA poly(A) tail shortening regulation of gene silencing by miRNA extracellular exosome endoribonuclease activity, cleaving siRNA-paired mRNA RISC-loading complex RNA phosphodiester bond hydrolysis, endonucleolytic endoribonuclease activity, cleaving miRNA-paired mRNA mRNA cleavage involved in gene silencing by siRNA mRNA cap binding positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay positive regulation of trophoblast cell migration positive regulation of miRNA mediated inhibition of translation ribonucleoprotein complex uc003yvm.1 uc003yvm.2 uc003yvm.3 uc003yvm.4 uc003yvm.5 uc003yvm.6 
ENST00000220597.4 PAG1 ENST00000220597.4 Homo sapiens phosphoprotein membrane anchor with glycosphingolipid microdomains 1 (PAG1), mRNA. (from RefSeq NM_018440) A8K1A3 CBP ENST00000220597.1 ENST00000220597.2 ENST00000220597.3 NM_018440 PAG PHAG1_HUMAN Q2M1Z9 Q5BKU4 Q9NWQ8 Q9NYK0 uc003ybz.1 uc003ybz.2 uc003ybz.3 uc003ybz.4 The protein encoded by this gene is a type III transmembrane adaptor protein that binds to the tyrosine kinase csk protein. It is thought to be involved in the regulation of T cell activation. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK289818.1, SRR1660805.105152.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000220597.4/ ENSP00000220597.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Negatively regulates TCR (T-cell antigen receptor)- mediated signaling in T-cells and FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Promotes CSK activation and recruitment to lipid rafts, which results in LCK inhibition. Inhibits immunological synapse formation by preventing dynamic arrangement of lipid raft proteins. May be involved in cell adhesion signaling. Interacts with FYN. When phosphorylated, interacts with CSK. Interacts with SLC9A3R1/EBP50. In resting T-cells, part of a PAG1-SLC9A3R1-MSN complex which is disrupted upon TCR activation. Interacts with LYN on plasma membrane lipid rafts. Identified in a complex with LYN and STAT3. Cell membrane; Single-pass type III membrane protein. Note=Present in lipid rafts. Ubiquitously expressed. Present in germinal center B-cells, plasma cells, T-cells, monocytes and platelets (at protein level). Palmitoylated. Phosphorylated by FYN on Tyr-317 in resting T-cells; which promotes interaction with CSK. Dephosphorylated by PTPRC/CD45 upon TCR activation; which leads to CSK dissociation. May also be dephosphorylated by PTPN11. Hyperphosphorylated in mast cells upon FCER1 activation. Phosphorylated by LYN. adaptive immune response immune system process SH3/SH2 adaptor activity protein binding plasma membrane signal transduction positive regulation of signal transduction membrane integral component of membrane intracellular signal transduction SH2 domain binding membrane raft T cell receptor signaling pathway regulation of T cell activation negative regulation of T cell activation uc003ybz.1 uc003ybz.2 uc003ybz.3 uc003ybz.4 
ENST00000220616.9 TG ENST00000220616.9 Homo sapiens thyroglobulin (TG), mRNA. (from RefSeq NM_003235) ENST00000220616.1 ENST00000220616.2 ENST00000220616.3 ENST00000220616.4 ENST00000220616.5 ENST00000220616.6 ENST00000220616.7 ENST00000220616.8 NM_003235 O15274 O43899 P01266 Q15593 Q15948 Q9NYR1 Q9NYR2 Q9UMZ0 Q9UNY3 THYG_HUMAN uc003ytw.1 uc003ytw.2 uc003ytw.3 uc003ytw.4 uc003ytw.5 Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X05615.1, U93033.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA2144120 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000220616.9/ ENSP00000220616.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Precursor of the iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3). Homodimer. Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Major; IsoId=P01266-1; Sequence=Displayed; Name=2; Synonyms=Minor; IsoId=P01266-2; Sequence=VSP_012655; Thyroid gland specific. Sulfated tyrosines are desulfated during iodination. Defects in TG are the cause of thyroid dyshormonogenesis 3 (TDH3) [MIM:274700]. A disorder due to thyroid dyshormonogenesis, causing large goiters of elastic and soft consistency in the majority of patients. Although the degree of thyroid dysfunction varies considerably among patients with defective thyroglobulin synthesis, patients usually have a relatively high serum free triiodothyronine (T3) concentration with disproportionately low free tetraiodothyronine (T4) level. The maintenance of relatively high free T3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases. Variations in TG are associated with susceptibility to autoimmune thyroid disease type 3 (AITD3) [MIM:608175]. AITDs including Graves disease (GD) and Hashimoto thyroiditis (HT), are among the most common human autoimmune diseases. They are complex diseases, which are caused by an interaction between susceptibility genes and nongenetic factors, such as infection. Belongs to the type-B carboxylesterase/lipase family. Contains 11 thyroglobulin type-1 domains. Name=Wikipedia; Note=Thyroglobulin entry; URL="http://en.wikipedia.org/wiki/Thyroglobulin"; hormone activity extracellular region signal transduction iodide transport thyroid gland development regulation of myelination thyroid hormone metabolic process hormone biosynthetic process uc003ytw.1 uc003ytw.2 uc003ytw.3 uc003ytw.4 uc003ytw.5 
ENST00000220659.11 BRF2 ENST00000220659.11 Homo sapiens BRF2 RNA polymerase III transcription initiation factor subunit (BRF2), mRNA. (from RefSeq NM_018310) B2RD62 BRF2_HUMAN BRFU D3DSW6 ENST00000220659.1 ENST00000220659.10 ENST00000220659.2 ENST00000220659.3 ENST00000220659.4 ENST00000220659.5 ENST00000220659.6 ENST00000220659.7 ENST00000220659.8 ENST00000220659.9 NM_018310 PRO1470 Q9H2Y3 Q9H3B3 Q9HAW0 Q9NUY6 uc003xkk.1 uc003xkk.2 uc003xkk.3 uc003xkk.4 uc003xkk.5 This gene encodes one of the multiple subunits of the RNA polymerase III transcription factor complex required for transcription of genes with promoter elements upstream of the initiation site. The product of this gene, a TFIIB-like factor, is directly recruited to the TATA-box of polymerase III small nuclear RNA gene promoters through its interaction with the TATA-binding protein. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7410570.427703.1, DRR138522.14564.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000220659.11/ ENSP00000220659.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## General activator of RNA polymerase III transcription. Factor exclusively required for RNA polymerase III transcription of genes with promoter elements upstream of the initiation sites. Binds 1 zinc ion per subunit (By similarity). Component of TFIIIB complex. The TFIIIB complex has two activities, alpha and beta. The TFIIIB-alpha activity complex is composed of TBP, BDP1, and a complex containing both BRF2 and at least four stably associated proteins; this complex inhibits the transcription by pol III via its phosphorylation by CK2; YY1 facilitates the TFIIIB-alpha complex formation. BRF2 recruitment to the TATA box containing small nuclear RNA (snRNA) gene templates is TBP-dependent. Interacts with TBP; this interaction with TBP mediates its TATA-box recruitment of these promoters. Interacts with TBP and the BURE sequence (GC-rich sequence downstream from the TATA box) to form a strong ternary complex which is joined by BDP1; this ternary complex stimulates pol III transcription. Forms a trimeric complex composed of TBP, BRF2 and mini-SNAPc complex (SNAP43, SNAP50, and the N-terminal third of SNAP190) on the promoter. Assembly of the TBP-BRF2 complex is stimulated by SNAP190. Interacts with MAF1 and SNAPC4. Nucleus. Down-regulated by epigallocatechin gallate (EGCG) treatment. Belongs to the TFIIB family. Contains 1 TFIIB-type zinc finger. Sequence=AAG35486.1; Type=Erroneous initiation; transcription factor TFIIIB complex RNA polymerase III type 3 promoter sequence-specific DNA binding RNA polymerase III type 3 promoter DNA binding nucleus nucleoplasm DNA-templated transcription, initiation regulation of transcription, DNA-templated regulation of transcription from RNA polymerase III promoter transcription factor binding cellular response to oxidative stress metal ion binding DNA-templated transcriptional preinitiation complex assembly RNA polymerase III transcriptional preinitiation complex assembly uc003xkk.1 uc003xkk.2 uc003xkk.3 uc003xkk.4 uc003xkk.5 
ENST00000220669.10 ZFAND1 ENST00000220669.10 Homo sapiens zinc finger AN1-type containing 1 (ZFAND1), transcript variant 1, mRNA. (from RefSeq NM_024699) ENST00000220669.1 ENST00000220669.2 ENST00000220669.3 ENST00000220669.4 ENST00000220669.5 ENST00000220669.6 ENST00000220669.7 ENST00000220669.8 ENST00000220669.9 NM_024699 Q658R7 Q6IA32 Q6PGQ6 Q8TCF1 Q9H810 ZFAN1_HUMAN uc003ycj.1 uc003ycj.2 uc003ycj.3 uc003ycj.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8TCF1-1; Sequence=Displayed; Name=2; IsoId=Q8TCF1-2; Sequence=VSP_014988; Note=No experimental confirmation available; Contains 2 AN1-type zinc fingers. protein binding cytoplasm zinc ion binding cytoplasmic stress granule stress granule disassembly metal ion binding proteasome binding positive regulation of intracellular protein transport cellular response to arsenite ion cellular response to oxidative stress cellular response to heat cellular response to osmotic stress uc003ycj.1 uc003ycj.2 uc003ycj.3 uc003ycj.4 
ENST00000220751.5 RIPK2 ENST00000220751.5 Homo sapiens receptor interacting serine/threonine kinase 2 (RIPK2), transcript variant 1, mRNA. (from RefSeq NM_003821) CARDIAK ENST00000220751.1 ENST00000220751.2 ENST00000220751.3 ENST00000220751.4 NM_003821 O43353 Q6UWF0 RICK RIP2 RIPK2_HUMAN UNQ277/PRO314/PRO34092 uc003yee.1 uc003yee.2 uc003yee.3 uc003yee.4 uc003yee.5 This gene encodes a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. The encoded protein contains a C-terminal caspase activation and recruitment domain (CARD), and is a component of signaling complexes in both the innate and adaptive immune pathways. It is a potent activator of NF-kappaB and inducer of apoptosis in response to various stimuli. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY358814.1, SRR1660807.150538.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000220751.5/ ENSP00000220751.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Serine/threonine/tyrosine kinase that plays an essential role in modulation of innate and adaptive immune responses. Upon stimulation by bacterial peptidoglycans, NOD1 and NOD2 are activated, oligomerize and recruit RIPK2 through CARD-CARD domains. Once recruited, RIPK2 autophosphorylates and undergoes 'Lys-63'-linked polyubiquitination by E3 ubiquitin ligases BIRC2 and BIRC3. The polyubiquitinated protein mediates the recruitment of MAP3K7/TAK1 to IKBKG/NEMO and induces 'Lys-63'-linked polyubiquitination of IKBKG/NEMO and subsequent activation of IKBKB/IKKB. In turn, NF-kappa-B is released from NF-kappa-B inhibitors and translocates into the nucleus where it activates the transcription of hundreds of genes involved in immune response, growth control, or protection against apoptosis. Plays also a role during engagement of the T-cell receptor (TCR) in promoting BCL10 phosphorylation and subsequent NF-kappa-B activation. ATP + a protein = ADP + a phosphoprotein. ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. Binds to CFLAR/CLARP and CASP1 via their CARD domains. Binds to BIRC3/c-IAP1 and BIRC2/c-IAP2, TRAF1, TRAF2, TRAF5 and TRAF6. May be a component of both the TNFRSF1A and TNRFSF5/CD40 receptor complex. Interacts with NOD1 and NOD2. Interacts with MAP3K4; this interaction sequesters RIPK2 from the NOD2 signaling pathway. Interacts with IKBKG/NEMO. The polyubiquitinated protein interacts with MAP3K7/TAK1. Interacts with XIAP/BIRC4. Q13490:BIRC2; NbExp=3; IntAct=EBI-358522, EBI-514538; Q13489:BIRC3; NbExp=3; IntAct=EBI-358522, EBI-517709; Q7Z434:MAVS; NbExp=3; IntAct=EBI-358522, EBI-995373; Cytoplasm (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O43353-1; Sequence=Displayed; Name=2; IsoId=O43353-2; Sequence=VSP_013266; Detected in heart, brain, placenta, lung, peripheral blood leukocytes, spleen, kidney, testis, prostate, pancreas and lymph node. Contains an N-terminal kinase domain and a C-terminal caspase activation and recruitment domain (CARD) that mediates the recruitment of CARD-containing proteins. Autophosphorylated. Autophosphorylation at Tyr-474 is necessary for effective NOD2 signaling. Phosphorylated upon DNA damage, probably by ATM or ATR. Ubiquitinated on Lys-209; undergoes 'Lys-63'-linked polyubiquitination catalyzed by ITCH. Polyubiquitinated with 'Lys- 48' and 'Lys-63'-linked chains by BIRC2/c-IAP1 and BIRC3/c-IAP2, leading to activation of NF-kappa-B. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. Contains 1 CARD domain. Contains 1 protein kinase domain. nucleotide binding activation of MAPK activity positive regulation of cytokine-mediated signaling pathway adaptive immune response immune system process positive regulation of T-helper 1 type immune response protein kinase activity protein serine/threonine kinase activity non-membrane spanning protein tyrosine kinase activity receptor binding protein binding ATP binding cytoplasm mitochondrion cytosol cytoskeleton protein phosphorylation apoptotic process inflammatory response signal transduction I-kappaB kinase/NF-kappaB signaling JNK cascade positive regulation of peptidyl-threonine phosphorylation positive regulation of cell death kinase activity phosphorylation transferase activity peptidyl-tyrosine phosphorylation LIM domain binding positive regulation of protein ubiquitination lipopolysaccharide-mediated signaling pathway vesicle positive regulation of protein binding positive regulation of chemokine production positive regulation of interferon-alpha production positive regulation of interferon-beta production positive regulation of interferon-gamma production positive regulation of interleukin-12 production positive regulation of interleukin-2 production positive regulation of interleukin-6 production positive regulation of tumor necrosis factor production positive regulation of stress-activated MAPK cascade macromolecular complex positive regulation of immature T cell proliferation positive regulation of peptidyl-serine phosphorylation toll-like receptor 2 signaling pathway toll-like receptor 4 signaling pathway T cell proliferation identical protein binding protein homodimerization activity regulation of apoptotic process positive regulation of apoptotic process negative regulation of apoptotic process positive regulation of I-kappaB kinase/NF-kappaB signaling response to exogenous dsRNA innate immune response positive regulation of T-helper 1 cell differentiation positive regulation of transcription from RNA polymerase II promoter positive regulation of JNK cascade positive regulation of alpha-beta T cell proliferation CARD domain binding positive regulation of interleukin-1 beta secretion positive regulation of peptidyl-tyrosine phosphorylation defense response to Gram-positive bacterium T cell receptor signaling pathway positive regulation of NF-kappaB transcription factor activity positive regulation of ERK1 and ERK2 cascade nucleotide-binding oligomerization domain containing signaling pathway nucleotide-binding oligomerization domain containing 1 signaling pathway nucleotide-binding oligomerization domain containing 2 signaling pathway interleukin-1-mediated signaling pathway response to interleukin-1 response to interleukin-12 response to interleukin-18 cellular response to lipopolysaccharide cellular response to lipoteichoic acid cellular response to peptidoglycan cellular response to muramyl dipeptide caspase binding activation of cysteine-type endopeptidase activity positive regulation of xenophagy uc003yee.1 uc003yee.2 uc003yee.3 uc003yee.4 uc003yee.5 
ENST00000220763.10 CPQ ENST00000220763.10 Homo sapiens carboxypeptidase Q (CPQ), mRNA. (from RefSeq NM_016134) B2RD88 CBPQ_HUMAN ENST00000220763.1 ENST00000220763.2 ENST00000220763.3 ENST00000220763.4 ENST00000220763.5 ENST00000220763.6 ENST00000220763.7 ENST00000220763.8 ENST00000220763.9 LCH1 NM_016134 PGCP Q8NBZ1 Q9UNM8 Q9Y5X6 Q9Y646 uc003yhw.1 uc003yhw.2 uc003yhw.3 uc003yhw.4 uc003yhw.5 uc003yhw.6 This gene encodes a metallopeptidase that belongs to the peptidase M28 family. The encoded protein may catalyze the cleavage of dipeptides with unsubstituted terminals into amino acids. [provided by RefSeq, Jul 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.988663.1, SRR3476690.1004497.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000220763.10/ ENSP00000220763.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Carboxypeptidase that may play an important role in the hydrolysis of circulating peptides. Catalyzes more efficiently the hydrolysis of dipeptides with unsubstituted terminals into amino acids. May play a role in thyroxin hormone liberation from its TG/thyroglobulin precursor. Homodimer. The monomeric form is inactive while the homodimer is active. Endoplasmic reticulum. Golgi apparatus. Lysosome (By similarity). Secreted. Note=Secretion is stimulated by TSH/thyroid-stimulating hormone, INS/insulin and SST/somatostatin (By similarity). Mainly detected in blood plasma. Abundant in placenta and kidney. Present at low level in muscles, liver and skin fibroblasts. Not detected in brain or white blood cells (at protein level). Up-regulated in the majority of hepatitis C virus- associated hepatocellular carcinoma. N-glycosylated. The secreted form is modified by hybrid or complex type oligosaccharide chains (By similarity). Belongs to the peptidase M28 family. Sequence=AAD31418.1; Type=Frameshift; Positions=446; carboxypeptidase activity extracellular region extracellular space cytoplasm lysosome endoplasmic reticulum Golgi apparatus proteolysis thyroid hormone generation peptidase activity metallopeptidase activity hydrolase activity tissue regeneration protein homodimerization activity peptide catabolic process intracellular membrane-bounded organelle metal ion binding extracellular exosome metallodipeptidase activity uc003yhw.1 uc003yhw.2 uc003yhw.3 uc003yhw.4 uc003yhw.5 uc003yhw.6 
ENST00000220764.7 DECR1 ENST00000220764.7 Homo sapiens 2,4-dienoyl-CoA reductase 1 (DECR1), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001359) DECR DECR_HUMAN ENST00000220764.1 ENST00000220764.2 ENST00000220764.3 ENST00000220764.4 ENST00000220764.5 ENST00000220764.6 NM_001359 Q16698 Q2M304 Q93085 uc003yek.1 uc003yek.2 uc003yek.3 This gene encodes an accessory enzyme which participates in the beta-oxidation and metabolism of unsaturated fatty enoyl-CoA esters. [provided by RefSeq, Jul 2008]. Auxiliary enzyme of beta-oxidation. It participates in the metabolism of unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions. Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA to yield trans-3- enoyl-CoA. Trans-2,3-didehydroacyl-CoA + NADP(+) = trans,trans-2,3,4,5-tetradehydroacyl-CoA + NADPH. Kinetic parameters: KM=7.7 uM for NADPH; KM=14.3 uM for trans-2,trans-4-hexadienoyl-CoA; Vmax=30.3 umol/min/mg enzyme; Homotetramer. Mitochondrion. Heart = liver = pancreas > kidney >> skeletal muscle = lung. Belongs to the short-chain dehydrogenases/reductases (SDR) family. 2,4-dienoyl-CoA reductase subfamily. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DECR1"; nucleus nucleoplasm mitochondrion mitochondrial matrix cytosol lipid metabolic process fatty acid metabolic process fatty acid beta-oxidation 2,4-dienoyl-CoA reductase (NADPH) activity oxidoreductase activity protein homotetramerization oxidation-reduction process NADPH binding uc003yek.1 uc003yek.2 uc003yek.3 
ENST00000220772.8 SFRP1 ENST00000220772.8 Homo sapiens secreted frizzled related protein 1 (SFRP1), mRNA. (from RefSeq NM_003012) ENST00000220772.1 ENST00000220772.2 ENST00000220772.3 ENST00000220772.4 ENST00000220772.5 ENST00000220772.6 ENST00000220772.7 FRP FRP1 NM_003012 O00546 O14779 Q8N474 SARP2 SFRP1_HUMAN uc003xnt.1 uc003xnt.2 uc003xnt.3 uc003xnt.4 uc003xnt.5 This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. Members of this family act as soluble modulators of Wnt signaling; epigenetic silencing of SFRP genes leads to deregulated activation of the Wnt-pathway which is associated with cancer. This gene may also be involved in determining the polarity of photoreceptor cells in the retina. [provided by RefSeq, Sep 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC036503.1, AF056087.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03267752, SAMN03267761 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000220772.8/ ENSP00000220772.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP1 decreases intracellular beta-catenin levels (By similarity). Has antiproliferative effects on vascular cells, in vitro and in vivo, and can induce, in vivo, an angiogenic response. In vascular cell cycle, delays the G1 phase and entry into the S phase (By similarity). In kidney development, inhibits tubule formation and bud growth in metanephroi (By similarity). Inhibits WNT1/WNT4-mediated TCF-dependent transcription. Interacts with WNT1, WNT2 and FRZD6. Interacts with WNT4 and WNT8 (By similarity). Secreted. Note=Cell membrane or extracellular matrix-associated. Released by heparin-binding. Widely expressed. Absent from lung, liver and peripheral blood leukocytes. Highest levels in heart and fetal kidney. Also expressed in testis, ovary, fetal brain and lung, leiomyomal cells, myometrial cells and vascular smooth muscle cells. Expressed in foreskin fibroblasts and in keratinocytes. Down-regulated in colorectal and breast tumors. Up- regulated in uterine leiomyomas under high estrogenic conditions. Expression, in leiomyomal cells, also increased both under hypoxic and serum deprivation conditions. The FZ domain is involved in binding with Wnt ligands (By similarity). Mass=7266.4; Method=MALDI; Range=169-210; Note=Isoform N-glycosylated on Asn-173; Source=PubMed:11741940; May have therapeutic use in cardiac surgery. Belongs to the secreted frizzled-related protein (sFRP) family. Contains 1 FZ (frizzled) domain. Contains 1 NTR domain. osteoblast differentiation ureteric bud development somitogenesis neural tube closure positive regulation of cell-matrix adhesion hematopoietic progenitor cell differentiation cysteine-type endopeptidase activity frizzled binding protein binding extracellular region extracellular space cytosol plasma membrane proteolysis multicellular organism development drug binding heparin binding positive regulation of cell proliferation negative regulation of cell proliferation male gonad development female gonad development cellular response to starvation dorsal/ventral axis specification anterior/posterior pattern specification cell surface regulation of cell cycle process negative regulation of gene expression negative regulation of epithelial to mesenchymal transition regulation of neuron projection development neural crest cell fate commitment response to organic cyclic compound Wnt signaling pathway Wnt-protein binding neural tube development hemopoiesis cell differentiation positive regulation of Wnt signaling pathway negative regulation of Wnt signaling pathway negative regulation of ossification positive regulation of cell growth negative regulation of cell growth negative regulation of cell migration negative regulation of BMP signaling pathway negative regulation of osteoblast proliferation somatic stem cell population maintenance non-canonical Wnt signaling pathway response to drug identical protein binding positive regulation of apoptotic process negative regulation of apoptotic process negative regulation of JUN kinase activity positive regulation of GTPase activity cellular response to fibroblast growth factor stimulus stromal-epithelial cell signaling involved in prostate gland development negative regulation of B cell differentiation positive regulation of fat cell differentiation negative regulation of osteoblast differentiation negative regulation of osteoclast differentiation regulation of angiogenesis positive regulation of smoothened signaling pathway negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated development of primary male sexual characteristics negative regulation of insulin secretion negative regulation of bone remodeling negative regulation of fibroblast proliferation digestive tract morphogenesis positive regulation of epithelial cell proliferation negative regulation of epithelial cell proliferation negative regulation of peptidyl-tyrosine phosphorylation positive regulation of stress fiber assembly positive regulation of focal adhesion assembly canonical Wnt signaling pathway Wnt signaling pathway, planar cell polarity pathway hematopoietic stem cell differentiation bone trabecula formation prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis regulation of branching involved in prostate gland morphogenesis negative regulation of androgen receptor signaling pathway extracellular exosome cellular response to vitamin D cellular response to interleukin-1 cellular response to tumor necrosis factor cellular response to growth factor stimulus cellular response to prostaglandin E stimulus cellular response to estrogen stimulus cellular response to estradiol stimulus cellular response to hypoxia cellular response to X-ray cellular response to heparin dopaminergic neuron differentiation cellular response to transforming growth factor beta stimulus cellular response to BMP stimulus negative regulation of canonical Wnt signaling pathway regulation of establishment of planar polarity planar cell polarity pathway involved in neural tube closure Wnt signaling pathway involved in somitogenesis convergent extension involved in somitogenesis positive regulation of canonical Wnt signaling pathway positive regulation of extrinsic apoptotic signaling pathway via death domain receptors regulation of midbrain dopaminergic neuron differentiation negative regulation of planar cell polarity pathway involved in axis elongation positive regulation of non-canonical Wnt signaling pathway negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation negative regulation of fibroblast apoptotic process positive regulation of fibroblast apoptotic process positive regulation of extrinsic apoptotic signaling pathway uc003xnt.1 uc003xnt.2 uc003xnt.3 uc003xnt.4 uc003xnt.5 
ENST00000220809.9 PLAT ENST00000220809.9 Homo sapiens plasminogen activator, tissue type (PLAT), transcript variant 1, mRNA. (from RefSeq NM_000930) A8K022 B2R8E8 ENST00000220809.1 ENST00000220809.2 ENST00000220809.3 ENST00000220809.4 ENST00000220809.5 ENST00000220809.6 ENST00000220809.7 ENST00000220809.8 NM_000930 P00750 Q15103 Q503B0 Q6PJA5 Q7Z7N2 Q86YK8 Q9BU99 Q9BZW1 TPA_HUMAN uc003xos.1 uc003xos.2 uc003xos.3 uc003xos.4 This gene encodes tissue-type plasminogen activator, a secreted serine protease that converts the proenzyme plasminogen to plasmin, a fibrinolytic enzyme. The encoded preproprotein is proteolytically processed by plasmin or trypsin to generate heavy and light chains. These chains associate via disulfide linkages to form the heterodimeric enzyme. This enzyme plays a role in cell migration and tissue remodeling. Increased enzymatic activity causes hyperfibrinolysis, which manifests as excessive bleeding, while decreased activity leads to hypofibrinolysis, which can result in thrombosis or embolism. Alternative splicing of this gene results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]. Converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen. By controlling plasmin-mediated proteolysis, it plays an important role in tissue remodeling and degradation, in cell migration and many other physiopathological events. Plays a direct role in facilitating neuronal migration. Specific cleavage of Arg-|-Val bond in plasminogen to form plasmin. Inhibited by SERPINA5. Heterodimer of chain A and chain B held by a disulfide bond. Forms heterodimer with SERPINA5. Binds to fibrin with high affinity. This interaction leads to an increase in the catalytic efficiency of the enzyme between 100-fold and 1000-fold, due to an increase in affinity for plasminogen. Similarly, binding to heparin increases the activation of plasminogen. Binds to annexin A2, cytokeratin-8, fibronectin and laminin. Binds to mannose receptor and the low-density lipoprotein receptor-related protein (LRP1); these proteins are involved in TPA clearance. Yet unidentified interactions on endothelial cells and vascular smooth muscle cells (VSMC) lead to a 100-fold stimulation of plasminogen activation. In addition, binding to VSMC reduces TPA inhibition by PAI-1 by 30-fold. Binds LRP1B; binding is followed by internalization and degradation. Secreted, extracellular space. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=Long; IsoId=P00750-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P00750-2; Sequence=VSP_005411, VSP_005412; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Name=3; IsoId=P00750-3; Sequence=VSP_015957; Note=No experimental confirmation available; Name=4; Synonyms=Neonatal; IsoId=P00750-4; Sequence=VSP_028029, VSP_028030; Note=No experimental confirmation available; Synthesized in numerous tissues (including tumors) and secreted into most extracellular body fluids, such as plasma, uterine fluid, saliva, gingival crevicular fluid, tears, seminal fluid, and milk. Both FN1 and one of the kringle domains are required for binding to fibrin. Both FN1 and EGF-like domains are important for binding to LRP1. The FN1 domain mediates binding to annexin A2. The second kringle domain is implicated in binding to cytokeratin-8 and to the endothelial cell surface binding site. The single chain, almost fully active enzyme, can be further processed into a two-chain fully active form by a cleavage after Arg-310 catalyzed by plasmin, tissue kallikrein or factor Xa. Differential cell-specific N-linked glycosylation gives rise to two glycoforms, type I (glycosylated at Asn-219) and type II (not glycosylated at Asn-219). The single chain type I glycoform is less readily converted into the two-chain form by plasmin, and the two-chain type I glycoform has a lower activity than the two- chain type II glycoform in the presence of fibrin. N-glycosylation of Asn-152; the bound oligomannosidic glycan is involved in the interaction with the mannose receptor. Characterization of O-linked glycan was studied in Bowes melanoma cell line. Note=Increased activity of TPA results in increased fibrinolysis of fibrin blood clots that is associated with excessive bleeding. Defective release of TPA results in hypofibrinolysis that can lead to thrombosis or embolism. Available under the names Activase (Genentech) and Retavase (Centocor and Roche) [Retavase is a fragment of TPA that contains kringle 2 and the protease domain; it was also known as BM 06.022]. Used in Acute Myocardial Infarction (AMI), in Acute Ischemic Stroke (AIS) and Pulmonary Embolism (PE) to initiate fibrinolysis. Belongs to the peptidase S1 family. Contains 1 EGF-like domain. Contains 1 fibronectin type-I domain. Contains 2 kringle domains. Contains 1 peptidase S1 domain. Name=Wikipedia; Note=Tissue plasminogen activator entry; URL="http://en.wikipedia.org/wiki/Tissue_plasminogen_Activator"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/plat/"; Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=PLAT"; Name=Activase; Note=Clinical information on Activase; URL="http://www.gene.com/gene/products/information/cardiovascular/activase/insert.jsp#pharmacology"; Name=Retavase; Note=Clinical information on Retavase; URL="http://www.retavase.com/pdf/Retavase_PI.pdf"; response to hypoxia serine-type endopeptidase activity receptor binding protein binding extracellular region extracellular space cytoplasm cellular protein modification process proteolysis blood coagulation peptidase activity serine-type peptidase activity cell surface smooth muscle cell migration hydrolase activity secretory granule plasminogen activation fibrinolysis apical part of cell negative regulation of proteolysis platelet-derived growth factor receptor signaling pathway phosphoprotein binding extracellular exosome glutamatergic synapse uc003xos.1 uc003xos.2 uc003xos.3 uc003xos.4 
ENST00000220812.3 DKK4 ENST00000220812.3 Homo sapiens dickkopf WNT signaling pathway inhibitor 4 (DKK4), mRNA. (from RefSeq NM_014420) DKK4_HUMAN ENST00000220812.1 ENST00000220812.2 NM_014420 Q3KNX0 Q9UBT3 Q9Y4C3 uc003xpb.1 uc003xpb.2 uc003xpb.3 uc003xpb.4 uc003xpb.5 This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. Activity of this protein is modulated by binding to the Wnt co-receptor and the co-factor kremen 2. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: CX167283.1, CX163996.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2144335 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000220812.3/ ENSP00000220812.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6. DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero- posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease (By similarity). Interacts with LRP5 and LRP6 (By similarity). Secreted. Expressed in cerebellum, T-cells, esophagus and lung. The C-terminal cysteine-rich domain mediates interaction with LRP5 and LRP6 (By similarity). Appears to be not glycosylated. Can be proteolytically processed by a furin-like protease. Belongs to the dickkopf family. molecular_function cellular_component extracellular region extracellular space multicellular organism development Wnt signaling pathway negative regulation of Wnt signaling pathway co-receptor binding receptor antagonist activity negative regulation of hair follicle placode formation negative regulation of canonical Wnt signaling pathway negative regulation of receptor activity uc003xpb.1 uc003xpb.2 uc003xpb.3 uc003xpb.4 uc003xpb.5 
ENST00000220853.8 EMC2 ENST00000220853.8 Homo sapiens ER membrane protein complex subunit 2 (EMC2), transcript variant 5, non-coding RNA. (from RefSeq NR_138033) EMC2_HUMAN ENST00000220853.1 ENST00000220853.2 ENST00000220853.3 ENST00000220853.4 ENST00000220853.5 ENST00000220853.6 ENST00000220853.7 KIAA0103 NR_138033 Q15006 Q8WUE1 TTC35 uc003ymw.1 uc003ymw.2 uc003ymw.3 Component of the ER membrane protein complex (EMC). Nucleus (By similarity). Cytoplasm. Belongs to the EMC2 family. Contains 3 TPR repeats. protein binding nucleus cytoplasm endoplasmic reticulum ER membrane protein complex uc003ymw.1 uc003ymw.2 uc003ymw.3 
ENST00000220876.12 STMN2 ENST00000220876.12 Homo sapiens stathmin 2 (STMN2), transcript variant 2, mRNA. (from RefSeq NM_007029) A8K9M2 ENST00000220876.1 ENST00000220876.10 ENST00000220876.11 ENST00000220876.2 ENST00000220876.3 ENST00000220876.4 ENST00000220876.5 ENST00000220876.6 ENST00000220876.7 ENST00000220876.8 ENST00000220876.9 NM_007029 O14952 Q6PK68 Q93045 SCG10 SCGN10 STMN2_HUMAN uc003ybj.1 uc003ybj.2 uc003ybj.3 uc003ybj.4 This gene encodes a member of the stathmin family of phosphoproteins. Stathmin proteins function in microtubule dynamics and signal transduction. The encoded protein plays a regulatory role in neuronal growth and is also thought to be involved in osteogenesis. Reductions in the expression of this gene have been associated with Down's syndrome and Alzheimer's disease. Alternatively spliced transcript variants have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Nov 2010]. Regulator of microtubule stability. When phosphorylated by MAPK8, stabilizes microtubules and consequently controls neurite length in cortical neurons. In the developing brain, negatively regulates the rate of exit from multipolar stage and retards radial migration from the ventricular zone (By similarity). Interacts with MAPK8 (By similarity). Interacts with ITM2C. Q8IYF3:TEX11; NbExp=2; IntAct=EBI-714194, EBI-742397; Cytoplasm (By similarity). Cytoplasm, perinuclear region (By similarity). Cell projection, growth cone. Membrane; Peripheral membrane protein; Cytoplasmic side (Potential). Cell projection, axon. Golgi apparatus. Endosome (By similarity). Note=Associated with punctate structures in the perinuclear cytoplasm, axons, and growth cones of developing neurons. SCG10 exists in both soluble and membrane-bound forms (By similarity). Neuron specific. Sumoylated. Phosphorylated mostly by MAPK8, but also by MAPK9 and MAPK10 in the developing brain cortex (By similarity). N-terminal palmitoylation promotes specific anchoring to the cytosolic leaflet of Golgi membranes and subsequent vesicular trafficking along dendrites and axons. Neuronal Stathmins are substrates for palmitoyltransferases ZDHHC3, ZDHHC7 and ZDHHC15. Belongs to the stathmin family. protein binding cytoplasm endosome Golgi apparatus microtubule depolymerization negative regulation of microtubule depolymerization positive regulation of neuron projection development negative regulation of neuron projection development tubulin binding membrane lamellipodium axon growth cone regulation of microtubule polymerization or depolymerization negative regulation of microtubule polymerization positive regulation of microtubule depolymerization neuron projection development vesicle cell projection neuron projection neuronal cell body calcium-dependent protein binding perinuclear region of cytoplasm regulation of cytoskeleton organization cellular response to nerve growth factor stimulus uc003ybj.1 uc003ybj.2 uc003ybj.3 uc003ybj.4 
ENST00000220913.10 CHRAC1 ENST00000220913.10 Homo sapiens chromatin accessibility complex subunit 1 (CHRAC1), transcript variant 1, mRNA. (from RefSeq NM_017444) CHRAC15 CHRC1_HUMAN ENST00000220913.1 ENST00000220913.2 ENST00000220913.3 ENST00000220913.4 ENST00000220913.5 ENST00000220913.6 ENST00000220913.7 ENST00000220913.8 ENST00000220913.9 NM_017444 Q9NRG0 uc003yvl.1 uc003yvl.2 uc003yvl.3 uc003yvl.4 uc003yvl.5 CHRAC1 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]. Forms a complex with DNA polymerase epsilon subunit POLE3 and binds naked DNA, which is then incorporated into chromatin, aided by the nucleosome remodeling activity of ISWI/SNF2H and ACF1. Interacts with POLE3. Together with POLE3, ACF1 and ISWI/SNF2H proteins, it forms the ISWI chromatin-remodeling complex, CHRAC. Nucleus (Potential). Expressed in all tissues tested, including, heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. DNA binding transcription factor activity, sequence-specific DNA binding DNA-directed DNA polymerase activity protein binding nucleus chromatin remodeling regulation of transcription, DNA-templated epsilon DNA polymerase complex CHRAC transferase activity nucleotidyltransferase activity protein heterodimerization activity DNA biosynthetic process uc003yvl.1 uc003yvl.2 uc003yvl.3 uc003yvl.4 uc003yvl.5 
ENST00000220940.2 GML ENST00000220940.2 Homo sapiens glycosylphosphatidylinositol anchored molecule like (GML), mRNA. (from RefSeq NM_002066) A0AVF6 ENST00000220940.1 GML_HUMAN LY6DL NM_002066 O00686 O00731 Q99445 uc003yxg.1 uc003yxg.2 uc003yxg.3 uc003yxg.4 May play a role in the apoptotic pathway or cell-cycle regulation induced by p53/TP53 after DNA damage. Cell membrane; Lipid-anchor, GPI-anchor (Potential). By p53/TP53. Contains 1 UPAR/Ly6 domain. plasma membrane apoptotic process DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest negative regulation of cell proliferation membrane extrinsic component of membrane anchored component of membrane uc003yxg.1 uc003yxg.2 uc003yxg.3 uc003yxg.4 
ENST00000221086.8 MTMR9 ENST00000221086.8 Homo sapiens myotubularin related protein 9 (MTMR9), mRNA. (from RefSeq NM_015458) C8orf9 ENST00000221086.1 ENST00000221086.2 ENST00000221086.3 ENST00000221086.4 ENST00000221086.5 ENST00000221086.6 ENST00000221086.7 MTMR8 MTMR9_HUMAN NM_015458 Q52LU3 Q8WW11 Q96QG6 Q96QG7 Q9NX50 uc003wtm.1 uc003wtm.2 uc003wtm.3 uc003wtm.4 uc003wtm.5 This gene encodes a myotubularin-related protein that is atypical to most other members of the myotubularin-related protein family because it has no dual-specificity phosphatase domain. The encoded protein contains a double-helical motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation. In mouse, a protein similar to the encoded protein binds with MTMR7, and together they dephosphorylate phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AJ297823.1, BC034990.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221086.8/ ENSP00000221086.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Probable pseudophosphatase. Contains a Gly residue instead of a conserved Cys residue in the dsPTPase catalytic loop which renders it catalytically inactive as a phosphatase (Potential). Interacts with MTMR6, MTMR7 and MTMR8. Cytoplasm. Expressed in many tissues. Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Contains 1 myotubularin phosphatase domain. protein binding cytoplasm endoplasmic reticulum cytosol plasma membrane phosphatidylinositol biosynthetic process endocytosis negative regulation of autophagy positive regulation of phosphatase activity membrane protein phosphatase binding enzyme regulator activity ruffle membrane macromolecular complex cell projection perinuclear region of cytoplasm protein stabilization regulation of phosphatidylinositol dephosphorylation uc003wtm.1 uc003wtm.2 uc003wtm.3 uc003wtm.4 uc003wtm.5 
ENST00000221114.8 DCTN6 ENST00000221114.8 Homo sapiens dynactin subunit 6 (DCTN6), mRNA. (from RefSeq NM_006571) B2RAC1 DCTN6_HUMAN ENST00000221114.1 ENST00000221114.2 ENST00000221114.3 ENST00000221114.4 ENST00000221114.5 ENST00000221114.6 ENST00000221114.7 NM_006571 O00399 WS3 uc003xhy.1 uc003xhy.2 uc003xhy.3 uc003xhy.4 uc003xhy.5 The protein encoded by this gene contains an RGD (Arg-Gly-Asp) motif in the N-terminal region, which confers adhesive properties to macromolecular proteins like fibronectin. It shares a high degree of sequence similarity with the mouse homolog, which has been suggested to play a role in mitochondrial biogenesis. The exact biological function of this gene is not known. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.517648.1, SRR3476690.1104743.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221114.8/ ENSP00000221114.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Member of the pointed-end complex of the dynactin shoulder complex which contains DCTN4, DCTN5 and DCTN6 subunits and ACTR10 (By similarity). Cytoplasm, cytoskeleton (By similarity). Ubiquitous. Belongs to the dynactin subunits 5/6 family. Dynactin subunit 6 subfamily. chromosome, centromeric region kinetochore condensed chromosome kinetochore chromosome cytoplasm centrosome cytosol cytoskeleton dynactin complex ER to Golgi vesicle-mediated transport antigen processing and presentation of exogenous peptide antigen via MHC class II uc003xhy.1 uc003xhy.2 uc003xhy.3 uc003xhy.4 uc003xhy.5 
ENST00000221130.11 GSR ENST00000221130.11 Homo sapiens glutathione-disulfide reductase (GSR), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_000637) ENST00000221130.1 ENST00000221130.10 ENST00000221130.2 ENST00000221130.3 ENST00000221130.4 ENST00000221130.5 ENST00000221130.6 ENST00000221130.7 ENST00000221130.8 ENST00000221130.9 NM_000637 V9HW90 uc003xih.1 uc003xih.2 uc003xih.3 uc003xih.4 uc003xih.5 This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and reduces oxidized glutathione disulfide (GSSG) to the sulfhydryl form GSH, which is an important cellular antioxidant. Rare mutations in this gene result in hereditary glutathione reductase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2010]. uc003xih.1 uc003xih.2 uc003xih.3 uc003xih.4 uc003xih.5 
ENST00000221132.8 TNFRSF10A ENST00000221132.8 Homo sapiens TNF receptor superfamily member 10a (TNFRSF10A), mRNA. (from RefSeq NM_003844) A8K5I4 APO2 DR4 ENST00000221132.1 ENST00000221132.2 ENST00000221132.3 ENST00000221132.4 ENST00000221132.5 ENST00000221132.6 ENST00000221132.7 NM_003844 O00220 Q53Y72 Q96E62 TR10A_HUMAN TRAILR1 uc003xda.1 uc003xda.2 uc003xda.3 uc003xda.4 uc003xda.5 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL), and thus transduces cell death signal and induces cell apoptosis. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DRR138524.404726.1, SRR6380201.98557.17 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221132.8/ ENSP00000221132.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for the cytotoxic ligand TNFSF10/TRAIL. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. Promotes the activation of NF- kappa-B. Can interact with TRADD and RIPK1. Interacts with ARAP1. Q96P48:ARAP1; NbExp=4; IntAct=EBI-518861, EBI-710003; Q14790:CASP8; NbExp=9; IntAct=EBI-518861, EBI-78060; P50591:TNFSF10; NbExp=8; IntAct=EBI-518861, EBI-495373; Membrane; Single-pass type I membrane protein. Widely expressed. High levels are found in spleen, peripheral blood leukocytes, small intestine and thymus, but also in K-562 erythroleukemia cells, MCF-7 breast carcinoma cells and activated T-cells. Contains 1 death domain. Contains 3 TNFR-Cys repeats. protease binding death receptor activity protein binding plasma membrane apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process signal transduction cell surface receptor signaling pathway activation of NF-kappaB-inducing kinase activity transcription factor binding extrinsic apoptotic signaling pathway via death domain receptors cell surface membrane integral component of membrane TRAIL-activated apoptotic signaling pathway signaling receptor activity regulation of apoptotic process positive regulation of apoptotic process TRAIL binding leukocyte migration cellular response to mechanical stimulus extrinsic apoptotic signaling pathway regulation of extrinsic apoptotic signaling pathway via death domain receptors negative regulation of extrinsic apoptotic signaling pathway via death domain receptors uc003xda.1 uc003xda.2 uc003xda.3 uc003xda.4 uc003xda.5 
ENST00000221138.9 PPP2CB ENST00000221138.9 Homo sapiens protein phosphatase 2 catalytic subunit beta (PPP2CB), mRNA. (from RefSeq NM_001009552) D3DSV4 ENST00000221138.1 ENST00000221138.2 ENST00000221138.3 ENST00000221138.4 ENST00000221138.5 ENST00000221138.6 ENST00000221138.7 ENST00000221138.8 NM_001009552 P11082 P62714 PP2AB_HUMAN Q6FHK5 uc003xik.1 uc003xik.2 uc003xik.3 uc003xik.4 uc003xik.5 This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes a beta isoform of the catalytic subunit. [provided by RefSeq, Mar 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.541421.1, SRR1163658.175840.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221138.9/ ENSP00000221138.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## PP2A can modulate the activity of phosphorylase B kinase casein kinase 2, mitogen-stimulated S6 kinase, and MAP-2 kinase. A phosphoprotein + H(2)O = a protein + phosphate. Binds 1 iron ion per subunit (By similarity). Binds 1 manganese ion per subunit (By similarity). Found in a complex with at least ARL2, PPP2CB, PPP2R1A, PPP2R2A, PPP2R5E and TBCD. Interacts with TBCD (By similarity). PP2A consists of a common heterodimeric core enzyme (composed of a 36 kDa catalytic subunit (subunit C) and a 65 kDa constant regulatory subunit (PR65) (subunit A)) that associates with a variety of regulatory subunits. Proteins that associate with the core dimer include three families of regulatory subunits B (the R2/B/PR55/B55, R3/B''/PR72/PR130/PR59 and R5/B'/B56 families), the 48 kDa variable regulatory subunit, viral proteins, and cell signaling molecules. Binds PPME1. May indirectly interact with SGOL1, most probably through regulatory B56 subunits. P78318:IGBP1; NbExp=3; IntAct=EBI-1044367, EBI-1055954; Cytoplasm. Nucleus. Chromosome, centromere. Cytoplasm, cytoskeleton, spindle pole. Note=In prometaphase cells, but not in anaphase cells, localizes at centromeres. During mitosis, also found at spindle poles. Reversibly methyl esterified on Leu-309. Carboxyl methylation may play a role in holoenzyme assembly. It varies during the cell cycle. Demethylated by PME1 (in vitro). Phosphorylation of either threonine (by autophosphorylation- activated protein kinase) or tyrosine results in inactivation of the phosphatase. Auto-dephosphorylation has been suggested as a mechanism for reactivation. Belongs to the PPP phosphatase family. PP-1 subfamily. protein phosphatase type 2A complex chromosome, centromeric region spindle pole phosphoprotein phosphatase activity protein serine/threonine phosphatase activity protein binding nucleus chromosome cytoplasm cytosol cytoskeleton protein dephosphorylation protein C-terminus binding apoptotic mitochondrial changes response to lead ion regulation of gene expression hydrolase activity response to endoplasmic reticulum stress peptidyl-threonine dephosphorylation response to hydrogen peroxide proteasome-mediated ubiquitin-dependent protein catabolic process negative regulation of Ras protein signal transduction response to antibiotic metal ion binding tau protein binding peptidyl-serine dephosphorylation positive regulation of microtubule binding uc003xik.1 uc003xik.2 uc003xik.3 uc003xik.4 uc003xik.5 
ENST00000221166.10 NEFM ENST00000221166.10 Homo sapiens neurofilament medium (NEFM), transcript variant 1, mRNA. (from RefSeq NM_005382) ENST00000221166.1 ENST00000221166.2 ENST00000221166.3 ENST00000221166.4 ENST00000221166.5 ENST00000221166.6 ENST00000221166.7 ENST00000221166.8 ENST00000221166.9 NEF3 NFM NFM_HUMAN NM_005382 P07197 Q4QRK6 uc003xed.1 uc003xed.2 uc003xed.3 uc003xed.4 uc003xed.5 uc003xed.6 Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]. Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. P06400:RB1; NbExp=2; IntAct=EBI-1105035, EBI-491274; Q15796:SMAD2; NbExp=3; IntAct=EBI-1105035, EBI-1040141; There are a number of repeats of the tripeptide K-S-P, NFM is phosphorylated on a number of the serines in this motif. It is thought that phosphorylation of NFM results in the formation of interfilament cross bridges that are important in the maintenance of axonal caliber. Phosphorylation seems to play a major role in the functioning of the larger neurofilament polypeptides (NF-M and NF-H), the levels of phosphorylation being altered developmentally and coincidentally with a change in the neurofilament function. Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization. Belongs to the intermediate filament family. Name=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org"; structural molecule activity structural constituent of cytoskeleton protein binding intermediate filament neurofilament microtubule binding axon neurofilament bundle assembly intermediate filament cytoskeleton neurofibrillary tangle uc003xed.1 uc003xed.2 uc003xed.3 uc003xed.4 uc003xed.5 uc003xed.6 
ENST00000221200.9 KCTD9 ENST00000221200.9 Homo sapiens potassium channel tetramerization domain containing 9 (KCTD9), mRNA. (from RefSeq NM_017634) ENST00000221200.1 ENST00000221200.2 ENST00000221200.3 ENST00000221200.4 ENST00000221200.5 ENST00000221200.6 ENST00000221200.7 ENST00000221200.8 KCTD9_HUMAN NM_017634 Q6NUM8 Q7L273 Q9NXV4 uc003xeo.1 uc003xeo.2 uc003xeo.3 uc003xeo.4 uc003xeo.5 Contains 1 BTB (POZ) domain. Contains 1 KHA domain. Contains 3 pentapeptide repeat domains. Sequence=BAA90904.1; Type=Erroneous initiation; protein binding protein ubiquitination intracellular signal transduction identical protein binding protein self-association protein homooligomerization cullin family protein binding uc003xeo.1 uc003xeo.2 uc003xeo.3 uc003xeo.4 uc003xeo.5 
ENST00000221232.11 CNOT3 ENST00000221232.11 Homo sapiens CCR4-NOT transcription complex subunit 3 (CNOT3), mRNA. (from RefSeq NM_014516) CNOT3_HUMAN ENST00000221232.1 ENST00000221232.10 ENST00000221232.2 ENST00000221232.3 ENST00000221232.4 ENST00000221232.5 ENST00000221232.6 ENST00000221232.7 ENST00000221232.8 ENST00000221232.9 KIAA0691 LENG2 NM_014516 NOT3 O75175 Q9NZN7 Q9UF76 uc002qdj.1 uc002qdj.2 uc002qdj.3 uc002qdj.4 uc002qdj.5 The CCR4-NOT complex functions as general transcription regulation complex. Subunit of the CCR4-NOT core complex that contains CHAF1A, CHAF1B, CNOT1, CNOT2, CNOT3, CNOT4, CNOT6 and CNOT8. Binds TIP120B. Interacts with NANOS2 (By similarity). Q96LI5:CNOT6L; NbExp=2; IntAct=EBI-743073, EBI-1046635; P50616:TOB1; NbExp=2; IntAct=EBI-743073, EBI-723281; Cytoplasm (Probable). Nucleus (Probable). Cytoplasm, P-body (By similarity). Note=NANOS2 promotes its localization to P-body (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O75175-1; Sequence=Displayed; Name=2; IsoId=O75175-2; Sequence=VSP_009920, VSP_009921; Name=3; IsoId=O75175-3; Sequence=VSP_009919, VSP_009922; Note=No experimental confirmation available; Ubiquitous. Highly expressed in brain, heart, thymus, spleen, kidney, liver, small intestine, lung and peripheral blood leukocytes. Belongs to the CNOT2/3/5 family. Sequence=BAA31666.2; Type=Erroneous initiation; nuclear-transcribed mRNA poly(A) tail shortening P-body trophectodermal cell differentiation protein binding nucleus cytoplasm cytosol regulation of transcription, DNA-templated regulation of translation DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest multicellular organism development negative regulation of translation CCR4-NOT complex CCR4-NOT core complex gene silencing by RNA regulation of stem cell population maintenance uc002qdj.1 uc002qdj.2 uc002qdj.3 uc002qdj.4 uc002qdj.5 
ENST00000221233.9 EXOSC5 ENST00000221233.9 Homo sapiens exosome component 5 (EXOSC5), mRNA. (from RefSeq NM_020158) CML28 ENST00000221233.1 ENST00000221233.2 ENST00000221233.3 ENST00000221233.4 ENST00000221233.5 ENST00000221233.6 ENST00000221233.7 ENST00000221233.8 EXOS5_HUMAN NM_020158 Q32Q81 Q8NG16 Q96I89 Q9NQT4 RRP46 uc002oqo.1 uc002oqo.2 uc002oqo.3 uc002oqo.4 uc002oqo.5 Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. Component of the RNA exosome complex. Specifically part of the catalytically inactive RNA exosome core (Exo-9) complex which is believed to associate with catalytic subunits EXOSC10, and DIS3 or DIS3L in cytoplasmic- and nuclear-specific RNA exosome complex forms. Exo-9 is formed by a hexameric ring of RNase PH domain-containing subunits specifically containing the heterodimers EXOSC4-EXOSC9, EXOSC5-EXOSC8 and EXOSC6-EXOSC7, and peripheral S1 domain-containing components EXOSC1, EXOSC2 and EXOSC3 located on the top of the ring structure. Interacts with EXOSC1. Interacts with GTPBP1. Interacts with ZC3HAV1. Interacts with DDX17 only in the presence of ZC3HAV1 in an RNA-independent manner. Q9Y3B2:EXOSC1; NbExp=10; IntAct=EBI-371876, EBI-371892; Q9NQT5:EXOSC3; NbExp=7; IntAct=EBI-371876, EBI-371866; Q96B26:EXOSC8; NbExp=4; IntAct=EBI-371876, EBI-371922; Nucleus, nucleolus. Cytoplasm (Probable). Nucleus (Probable). Highly expressed in a variety of hematopoietic and epithelial tumor cell lines, but not in normal hematopoietic tissues or other normal tissue, with the exception of testis. Belongs to the RNase PH family. The six exosome core subunits containing a RNase PH- domain are not phosphorolytically active. Sequence=AAM75154.1; Type=Erroneous initiation; 3'-5'-exoribonuclease activity nuclear exosome (RNase complex) cytoplasmic exosome (RNase complex) exosome (RNase complex) RNA binding protein binding nucleus nucleoplasm nucleolus cytoplasm cytosol rRNA processing RNA catabolic process rRNA catabolic process nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' U4 snRNA 3'-end processing transcriptionally active chromatin regulation of mRNA stability exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay DNA deamination defense response to virus nuclear mRNA surveillance polyadenylation-dependent snoRNA 3'-end processing RNA phosphodiester bond hydrolysis, exonucleolytic exoribonuclease activity uc002oqo.1 uc002oqo.2 uc002oqo.3 uc002oqo.4 uc002oqo.5 
ENST00000221265.8 PAF1 ENST00000221265.8 Homo sapiens PAF1 homolog, Paf1/RNA polymerase II complex component (PAF1), transcript variant 1, mRNA. (from RefSeq NM_019088) ENST00000221265.1 ENST00000221265.2 ENST00000221265.3 ENST00000221265.4 ENST00000221265.5 ENST00000221265.6 ENST00000221265.7 NM_019088 O75239 PAF1_HUMAN PD2 Q8N7H5 Q9H166 Q9NUU9 uc002old.1 uc002old.2 uc002old.3 uc002old.4 uc002old.5 uc002old.6 This gene encodes a subunit of the polymerase associated factor (PAF1) complex. The PAF1 complex interacts with RNA polymerase II and plays a role in transcription elongation as well as histone modifications including ubiquitylation and methylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]. Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non- phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of MLL1; it promotes leukemogenesis though association with MLL-rearranged oncoproteins, such as MLL-MLLT3/AF9 and MLL-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Connects PAF1C with the RNF20/40 E3 ubiquitin-protein ligase complex. Involved in polyadenylation of mRNA precursors. Has oncogenic activity in vivo and in vitro. Component of the PAF1 complex, which consists of CDC73, PAF1, LEO1, CTR9, RTF1 and WDR61. Interacts with POLR2A, TCEA1, TTC37, MLL, SUPT5H, RNF20 and RNF40. Interacts with UBE2E1. Interacts with influenza A strain H3N2 NS1 protein; the interaction interferes with host cell gene transcription, specifically with that of antiviral genes. Q6P1J9:CDC73; NbExp=25; IntAct=EBI-2607770, EBI-930143; Q6PD62:CTR9; NbExp=22; IntAct=EBI-2607770, EBI-1019583; Q8WVC0:LEO1; NbExp=17; IntAct=EBI-2607770, EBI-932432; Q03164:MLL; NbExp=4; IntAct=EBI-2607770, EBI-591370; B2BUF1:NS1 (xeno); NbExp=6; IntAct=EBI-2607770, EBI-4291940; P24928:POLR2A; NbExp=5; IntAct=EBI-2607770, EBI-295301; Q92541:RTF1; NbExp=16; IntAct=EBI-2607770, EBI-1055239; P23193:TCEA1; NbExp=4; IntAct=EBI-2607770, EBI-2608271; Q6PGP7:TTC37; NbExp=2; IntAct=EBI-2607770, EBI-6083436; P51965:UBE2E1; NbExp=2; IntAct=EBI-2607770, EBI-348546; Nucleus. Note=Punctuate distribution throughout the nucleus except in nucleoli and the perinuclear chromatin. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8N7H5-1; Sequence=Displayed; Name=2; IsoId=Q8N7H5-2; Sequence=VSP_032650, VSP_032651, VSP_032652; Note=No experimental confirmation available; Belongs to the PAF1 family. Sequence=AAC25503.1; Type=Erroneous gene model prediction; Sequence=EAW56880.1; Type=Erroneous gene model prediction; Sequence=EAW56881.1; Type=Erroneous gene model prediction; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PAF1ID44202ch19q13.html"; negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core binding endodermal cell fate commitment chromatin binding protein binding nucleus nucleoplasm cytoplasm transcription from RNA polymerase II promoter transcription elongation from RNA polymerase II promoter mRNA polyadenylation histone monoubiquitination membrane Wnt signaling pathway protein ubiquitination histone modification nucleosome positioning Cdc73/Paf1 complex stem cell population maintenance cell junction positive regulation of histone methylation positive regulation of mRNA 3'-end processing positive regulation of transcription elongation from RNA polymerase II promoter histone H2B ubiquitination protein localization to nucleus transcriptionally active chromatin negative regulation of myeloid cell differentiation positive regulation of transcription from RNA polymerase II promoter cellular response to lipopolysaccharide positive regulation of cell cycle G1/S phase transition uc002old.1 uc002old.2 uc002old.3 uc002old.4 uc002old.5 uc002old.6 
ENST00000221283.10 STXBP2 ENST00000221283.10 Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA. (from RefSeq NM_006949) ENST00000221283.1 ENST00000221283.2 ENST00000221283.3 ENST00000221283.4 ENST00000221283.5 ENST00000221283.6 ENST00000221283.7 ENST00000221283.8 ENST00000221283.9 NM_006949 Q15833 Q9BU65 STXB2_HUMAN UNC18B uc002mha.1 uc002mha.2 uc002mha.3 uc002mha.4 uc002mha.5 uc002mha.6 uc002mha.7 This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]. Involved in intracellular vesicle trafficking and vesicle fusion with membranes. Contributes to the granule exocytosis machinery through interaction with soluble N- ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins that regulate membrane fusion. Regulates cytotoxic granule exocytosis in natural killer (NK) cells. Interacts with STX1A, STX2 and STX3 (By similarity). Interacts with STX11. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q15833-1; Sequence=Displayed; Name=2; IsoId=Q15833-2; Sequence=VSP_040121; Placenta, lung, liver, kidney and pancreas, as well as in peripheral blood lymphocytes. Defects in STXBP2 are the cause of familial hemophagocytic lymphohistiocytosis type 5 (FHL5) [MIM:613101]. FHL5 is rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. Belongs to the STXBP/unc-18/SEC1 family. leukocyte mediated cytotoxicity platelet degranulation protein binding extracellular region cytosol plasma membrane exocytosis vesicle docking involved in exocytosis protein transport vesicle-mediated transport apical plasma membrane syntaxin-1 binding syntaxin-3 binding specific granule azurophil granule zymogen granule membrane regulation of mast cell degranulation neutrophil degranulation cytolytic granule phagocytic vesicle extracellular exosome tertiary granule cellular response to interferon-gamma uc002mha.1 uc002mha.2 uc002mha.3 uc002mha.4 uc002mha.5 uc002mha.6 uc002mha.7 
ENST00000221307.13 CYP4F3 ENST00000221307.13 Homo sapiens cytochrome P450 family 4 subfamily F member 3 (CYP4F3), transcript variant 1, mRNA. (from RefSeq NM_000896) CP4F3_HUMAN ENST00000221307.1 ENST00000221307.10 ENST00000221307.11 ENST00000221307.12 ENST00000221307.2 ENST00000221307.3 ENST00000221307.4 ENST00000221307.5 ENST00000221307.6 ENST00000221307.7 ENST00000221307.8 ENST00000221307.9 LTB4H NM_000896 O60634 Q08477 Q5U740 uc002nbj.1 uc002nbj.2 uc002nbj.3 uc002nbj.4 uc002nbj.5 This gene, CYP4F3, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F8, is approximately 18 kb away. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2019]. Cytochromes P450 are a group of heme-thiolate monooxygenases. This enzyme requires molecular oxygen and NADPH for the omega-hydroxylation of LTB4, a potent chemoattractant for polymorphonuclear leukocytes. (6Z,8E,10E,14Z)-(5S,12R)-5,12-dihydroxyicosa- 6,8,10,14-tetraenoate + NADPH + O(2) = (6Z,8E,10E,14Z)-(5S,12R)- 5,12,20-trihydroxyicosa-6,8,10,14-tetraenoate + NADP(+) + H(2)O. Heme group (By similarity). Inhibited by carbon monoxide (CO). Lipid metabolism; leukotriene B4 degradation. Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity). Microsome membrane; Single-pass membrane protein (By similarity). Expressed in the polymorphonuclear leukocytes as well as leukocytes. Belongs to the cytochrome P450 family. Sequence=AAC08589.1; Type=Frameshift; Positions=67, 114; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/cyp4f3/"; monooxygenase activity iron ion binding endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process fatty acid metabolic process icosanoid metabolic process leukotriene metabolic process membrane integral component of membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen arachidonic acid metabolic process heme binding organelle membrane leukotriene B4 catabolic process intracellular membrane-bounded organelle metal ion binding leukotriene-B4 20-monooxygenase activity oxidation-reduction process aromatase activity uc002nbj.1 uc002nbj.2 uc002nbj.3 uc002nbj.4 uc002nbj.5 
ENST00000221315.10 ZNF432 ENST00000221315.10 Homo sapiens zinc finger protein 432 (ZNF432), transcript variant 1, mRNA. (from RefSeq NM_014650) ENST00000221315.1 ENST00000221315.2 ENST00000221315.3 ENST00000221315.4 ENST00000221315.5 ENST00000221315.6 ENST00000221315.7 ENST00000221315.8 ENST00000221315.9 KIAA0798 NM_014650 O94892 ZN432_HUMAN uc002pyk.1 uc002pyk.2 uc002pyk.3 uc002pyk.4 uc002pyk.5 May be involved in transcriptional regulation. Nucleus (Probable). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 16 C2H2-type zinc fingers. Contains 1 KRAB domain. Sequence=BAA34518.2; Type=Erroneous initiation; nucleic acid binding DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated metal ion binding uc002pyk.1 uc002pyk.2 uc002pyk.3 uc002pyk.4 uc002pyk.5 
ENST00000221399.8 TULP2 ENST00000221399.8 Homo sapiens TUB like protein 2 (TULP2), mRNA. (from RefSeq NM_003323) ENST00000221399.1 ENST00000221399.2 ENST00000221399.3 ENST00000221399.4 ENST00000221399.5 ENST00000221399.6 ENST00000221399.7 NM_003323 O00295 Q8TC50 TUBL2 TULP2_HUMAN uc002pkz.1 uc002pkz.2 uc002pkz.3 uc002pkz.4 TULP2 is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. Members of this family have been identified in plants, vertebrates, and invertebrates. The TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BC026070.2, U82469.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968189, SAMEA1968540 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221399.8/ ENSP00000221399.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Cytoplasm (By similarity). Secreted (By similarity). Note=Does not have a cleavable signal peptide and is secreted by a non-conventional pathway (By similarity). Strongly expressed in testis. Also expressed in retina. Expressed in cancer cell lines. Belongs to the TUB family. extracellular region cytoplasm cilium visual perception macromolecular complex binding protein localization to cilium uc002pkz.1 uc002pkz.2 uc002pkz.3 uc002pkz.4 
ENST00000221403.7 DHDH ENST00000221403.7 Homo sapiens dihydrodiol dehydrogenase (DHDH), mRNA. (from RefSeq NM_014475) 2DD DHDH_HUMAN ENST00000221403.1 ENST00000221403.2 ENST00000221403.3 ENST00000221403.4 ENST00000221403.5 ENST00000221403.6 NM_014475 Q9UQ10 uc002ple.1 uc002ple.2 This gene encodes an enzyme that belongs to the family of dihydrodiol dehydrogenases, which exist in multiple forms in mammalian tissues and are involved in the metabolism of xenobiotics and sugars. These enzymes catalyze the NADP1-linked oxidation of transdihydrodiols of aromatic hydrocarbons to corresponding catechols. This enzyme is a dimeric dihydrodiol dehydrogenase, and it differs from monomeric dihydrodiol dehydrogenases in its high substrate specificity for trans-dihydrodiols of aromatic hydrocarbons in the oxidative direction. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC032730.1, SRR5189667.70683.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221403.7/ ENSP00000221403.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Trans-1,2-dihydrobenzene-1,2-diol + NADP(+) = catechol + NADPH. D-xylose + NADP(+) = D-xylono-1,5-lactone + NADPH. Homodimer. Small intestine. Belongs to the Gfo/Idh/MocA family. carbohydrate metabolic process NAD(P)+ transhydrogenase activity electron carrier activity oxidoreductase activity electron transport chain D-xylose catabolic process trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity D-xylose 1-dehydrogenase (NADP+) activity oxidation-reduction process uc002ple.1 uc002ple.2 
ENST00000221418.9 ECH1 ENST00000221418.9 Homo sapiens enoyl-CoA hydratase 1 (ECH1), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001398) A8K745 ECH1_HUMAN ENST00000221418.1 ENST00000221418.2 ENST00000221418.3 ENST00000221418.4 ENST00000221418.5 ENST00000221418.6 ENST00000221418.7 ENST00000221418.8 NM_001398 Q13011 Q8WVX0 Q96EZ9 uc002oji.1 uc002oji.2 uc002oji.3 uc002oji.4 uc002oji.5 This gene encodes a member of the hydratase/isomerase superfamily. The gene product shows high sequence similarity to enoyl-coenzyme A (CoA) hydratases of several species, particularly within a conserved domain characteristic of these proteins. The encoded protein, which contains a C-terminal peroxisomal targeting sequence, localizes to the peroxisome. The rat ortholog, which localizes to the matrix of both the peroxisome and mitochondria, can isomerize 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, indicating that it is a delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions in the auxiliary step of the fatty acid beta-oxidation pathway. Expression of the rat gene is induced by peroxisome proliferators. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.360432.1, SRR5189655.103444.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2155770 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221418.9/ ENSP00000221418.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Isomerization of 3-trans,5-cis-dienoyl-CoA to 2-trans,4- trans-dienoyl-CoA (By similarity). Lipid metabolism; fatty acid beta-oxidation. Homohexamer (By similarity). P42858:HTT; NbExp=2; IntAct=EBI-711968, EBI-466029; P40763:STAT3; NbExp=2; IntAct=EBI-711968, EBI-518675; Mitochondrion (By similarity). Peroxisome (By similarity). Belongs to the enoyl-CoA hydratase/isomerase family. catalytic activity protein binding mitochondrion peroxisome peroxisomal matrix cytosol protein targeting to peroxisome lipid metabolic process fatty acid metabolic process fatty acid beta-oxidation membrane isomerase activity delta3,5-delta2,4-dienoyl-CoA isomerase activity extracellular exosome uc002oji.1 uc002oji.2 uc002oji.3 uc002oji.4 uc002oji.5 
ENST00000221419.10 HNRNPL ENST00000221419.10 Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 1, mRNA. (from RefSeq NM_001533) A6ND69 A6NIT8 ENST00000221419.1 ENST00000221419.2 ENST00000221419.3 ENST00000221419.4 ENST00000221419.5 ENST00000221419.6 ENST00000221419.7 ENST00000221419.8 ENST00000221419.9 HNRPL HNRPL_HUMAN NM_001533 P/OKcl.14 P14866 Q9H3P3 uc060yfy.1 uc060yfy.2 Heterogeneous nuclear RNAs (hnRNAs) which include mRNA precursors and mature mRNAs are associated with specific proteins to form heterogenous ribonucleoprotein (hnRNP) complexes. Heterogeneous nuclear ribonucleoprotein L is among the proteins that are stably associated with hnRNP complexes and along with other hnRNP proteins is likely to play a major role in the formation, packaging, processing, and function of mRNA. Heterogeneous nuclear ribonucleoprotein L is present in the nucleoplasm as part of the HNRP complex. HNRP proteins have also been identified outside of the nucleoplasm. Exchange of hnRNP for mRNA-binding proteins accompanies transport of mRNA from the nucleus to the cytoplasm. Since HNRP proteins have been shown to shuttle between the nucleus and the cytoplasm, it is possible that they also have cytoplasmic functions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Is associated with most nascent transcripts including those of the landmark giant loops of amphibian lampbrush chromosomes. Associates, together with APEX1, to the negative calcium responsive element (nCaRE) B2 of the APEX2 promoter. Identified in a mRNP granule complex, at least composed of ACTB, ACTN4, DHX9, ERG, HNRNPA1, HNRNPA2B1, HNRNPAB, HNRNPD, HNRNPL, HNRNPR, HNRNPU, HSPA1, HSPA8, IGF2BP1, ILF2, ILF3, NCBP1, NCL, PABPC1, PABPC4, PABPN1, RPLP0, RPS3, RPS3A, RPS4X, RPS8, RPS9, SYNCRIP, TROVE2, YBX1 and untranslated mRNAs. Interacts with HNRPLL. Interacts with APEX1; the interaction is DNA-dependent. Nucleus, nucleoplasm. Cytoplasm. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P14866-1; Sequence=Displayed; Name=2; IsoId=P14866-2; Sequence=VSP_044301; Several isoelectric forms of the L protein are probably the results of post-translational modifications. Contains 3 RRM (RNA recognition motif) domains. Sequence=CAA34261.1; Type=Erroneous initiation; Note=Translation N-terminally extended; regulation of alternative mRNA splicing, via spliceosome mRNA splicing, via spliceosome nucleic acid binding RNA binding protein binding nucleus nucleoplasm cytoplasm RNA processing mRNA processing membrane RNA metabolic process ribonucleoprotein granule transcription regulatory region DNA binding extracellular exosome pre-mRNA intronic binding ribonucleoprotein complex uc060yfy.1 uc060yfy.2 
ENST00000221431.11 SARS2 ENST00000221431.11 Homo sapiens seryl-tRNA synthetase 2, mitochondrial (SARS2), transcript variant 2, mRNA. (from RefSeq NM_017827) A6NHW7 B4DE10 ENST00000221431.1 ENST00000221431.10 ENST00000221431.2 ENST00000221431.3 ENST00000221431.4 ENST00000221431.5 ENST00000221431.6 ENST00000221431.7 ENST00000221431.8 ENST00000221431.9 NM_017827 Q9BVP3 Q9NP81 SARSM SYSM_HUMAN uc002oka.1 uc002oka.2 uc002oka.3 uc002oka.4 This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009]. Catalyzes the attachment of serine to tRNA(Ser). Is also able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L-seryl-tRNA(Sec), which will be further converted into selenocysteinyl-tRNA(Sec) (By similarity). ATP + L-serine + tRNA(Ser) = AMP + diphosphate + L-seryl-tRNA(Ser). ATP + L-serine + tRNA(Sec) = AMP + diphosphate + L-seryl-tRNA(Sec). Aminoacyl-tRNA biosynthesis; selenocysteinyl-tRNA(Sec) biosynthesis; L-seryl-tRNA(Sec) from L-serine and tRNA(Sec): step 1/1. Homodimer. The tRNA molecule binds across the dimer (By similarity). Q9UHX1:PUF60; NbExp=1; IntAct=EBI-1049768, EBI-1053259; Mitochondrion matrix (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NP81-1; Sequence=Displayed; Name=2; IsoId=Q9NP81-2; Sequence=VSP_043020; Note=No experimental confirmation available; Consists of two distinct domains, a catalytic core and a N-terminal extension that is involved in tRNA binding (By similarity). Defects in SARS2 are the cause of hyperuricemia pulmonary hypertension renal failure and alkalosis (HUPRA) [MIM:613845]. HUPRA is a multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely. Belongs to the class-II aminoacyl-tRNA synthetase family. Type-1 seryl-tRNA synthetase subfamily. Sequence=AAH01020.2; Type=Erroneous initiation; Note=Translation N-terminally extended; nucleotide binding RNA binding aminoacyl-tRNA ligase activity serine-tRNA ligase activity ATP binding mitochondrion mitochondrial matrix translation tRNA aminoacylation for protein translation seryl-tRNA aminoacylation ligase activity selenocysteinyl-tRNA(Sec) biosynthetic process uc002oka.1 uc002oka.2 uc002oka.3 uc002oka.4 
ENST00000221444.2 KCNA7 ENST00000221444.2 Homo sapiens potassium voltage-gated channel subfamily A member 7 (KCNA7), mRNA. (from RefSeq NM_031886) A1KYX7 ENST00000221444.1 KCNA7_HUMAN NM_031886 Q96RP8 Q9BYS4 uc002pmg.1 uc002pmg.2 uc002pmg.3 uc002pmg.4 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. The gene is expressed preferentially in skeletal muscle, heart and kidney. It is a candidate gene for inherited cardiac disorders. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AJ310479.1, BC140906.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2158188, SAMEA2158800 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient (By similarity). Heterotetramer of potassium channel proteins (By similarity). Membrane; Multi-pass membrane protein (By similarity). Highly expressed in skeletal muscle, heart and kidney. The N-terminus may be important in determining the rate of inactivation of the channel while the tail may play a role in modulation of channel activity and/or targeting of the channel to specific subcellular compartments (By similarity). The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position (By similarity). Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.7/KCNA7 sub-subfamily. ion channel activity voltage-gated ion channel activity voltage-gated potassium channel activity delayed rectifier potassium channel activity potassium channel activity plasma membrane ion transport potassium ion transport voltage-gated potassium channel complex membrane integral component of membrane regulation of ion transmembrane transport protein homooligomerization transmembrane transport potassium ion transmembrane transport uc002pmg.1 uc002pmg.2 uc002pmg.3 uc002pmg.4 
ENST00000221452.13 RELB ENST00000221452.13 Homo sapiens RELB proto-oncogene, NF-kB subunit (RELB), mRNA. (from RefSeq NM_006509) ENST00000221452.1 ENST00000221452.10 ENST00000221452.11 ENST00000221452.12 ENST00000221452.2 ENST00000221452.3 ENST00000221452.4 ENST00000221452.5 ENST00000221452.6 ENST00000221452.7 ENST00000221452.8 ENST00000221452.9 NM_006509 Q01201 Q6GTX7 Q9UEI7 RELB_HUMAN uc060zvi.1 uc060zvi.2 NF-kappa-B is a pleiotropic transcription factor which is present in almost all cell types and is involved in many biological processed such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF- kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF- kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. NF-kappa-B heterodimeric RelB-p50 and RelB-p52 complexes are transcriptional activators. RELB neither associates with DNA nor with RELA/p65 or REL. Stimulates promoter activity in the presence of NFKB2/p49. Component of the NF-kappa-B RelB-p50 complex. Component of the NF-kappa-B RelB-p52 complex. Self-associates; the interaction seems to be transient and may prevent degradation allowing for heterodimer formation with p50 or p52. Interacts with NFKB1/p50, NFKB2/p52 and NFKB2/p100. Interacts with NFKBID (By similarity). Q8N668:COMMD1; NbExp=2; IntAct=EBI-357837, EBI-1550112; P49841:GSK3B; NbExp=4; IntAct=EBI-357837, EBI-373586; Nucleus. Cytoplasm, cytoskeleton, centrosome. Note=Co-localizes with NEK6 in the centrosome. By mitogens. Both N- and C-terminal domains are required for transcriptional activation. Phosphorylation at 'Thr-103' and 'Ser-573' is followed by proteasomal degradation (By similarity). Contains 1 RHD (Rel-like) domain. Was originally (PubMed:1577270) thought to inhibit the transcriptional activity of nuclear factor NF-kappa-B. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/RELBID324.html"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding stimulatory C-type lectin receptor signaling pathway DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding transcription corepressor activity protein binding nucleus nucleoplasm cytoplasm microtubule organizing center cytosol cytoskeleton regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter inflammatory response I-kappaB kinase/NF-kappaB signaling positive regulation of gene expression transcriptional repressor complex antigen processing and presentation protein kinase binding lymphocyte differentiation negative regulation of interferon-beta production circadian regulation of gene expression macromolecular complex response to cytokine NIK/NF-kappaB signaling T-helper 1 type immune response identical protein binding myeloid dendritic cell differentiation T-helper 1 cell differentiation negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter rhythmic process cellular response to osmotic stress centrosome uc060zvi.1 uc060zvi.2 
ENST00000221455.8 CLASRP ENST00000221455.8 Homo sapiens CLK4 associating serine/arginine rich protein (CLASRP), transcript variant 3, non-coding RNA. (from RefSeq NR_103529) A0A0A0MQS2 ENST00000221455.1 ENST00000221455.2 ENST00000221455.3 ENST00000221455.4 ENST00000221455.5 ENST00000221455.6 ENST00000221455.7 NR_103529 uc002pak.1 uc002pak.2 uc002pak.3 uc002pak.4 uc002pak.1 uc002pak.2 uc002pak.3 uc002pak.4 
ENST00000221459.7 LIN7B ENST00000221459.7 Homo sapiens lin-7 homolog B, crumbs cell polarity complex component (LIN7B), transcript variant 1, mRNA. (from RefSeq NM_022165) ENST00000221459.1 ENST00000221459.2 ENST00000221459.3 ENST00000221459.4 ENST00000221459.5 ENST00000221459.6 LIN7B_HUMAN MALS2 NM_022165 Q9HAP6 UNQ3116/PRO10200 VELI2 uc002pmp.1 uc002pmp.2 uc002pmp.3 uc002pmp.4 Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2, ERBB3 and ERBB4 to the basolateral membrane of epithelial cells. May increase the amplitude of ASIC3 acid-evoked currents by stabilizing the channel at the cell surface (By similarity). Forms two exclusive ternary complexes with CASK and APBA1 or CASKIN1. Can also interact with other modular proteins containing protein-protein interaction domains like MPP5, MPP6, MPP7, DLG1, DLG2 and DLG3 through its L27 domain. Interacts with DLG4 and GRIN2B as well as CDH1 and CTNNB1, the channels KCNJ12/Kir2.2, KCNJ4/Kir2.3 and probably KCNJ2/Kir2.1 and SLC6A12/BGT-1 via its PDZ domain. The association of LIN7A with cadherin and beta-catenin is calcium-dependent, occurs at synaptic junctions and requires the actin cytoskeleton. Interacts with EGFR, ERBB2, ERBB3 and ERBB4 with both PDZ and KID domains. Associates with KIF17 via APBA1 (By similarity). Interacts with ASIC3. Interacts with TOPK. Interacts with RTKN. Cell membrane; Peripheral membrane protein. Basolateral cell membrane; Peripheral membrane protein. Cell junction (By similarity). Cell junction, synapse, postsynaptic cell membrane, postsynaptic density; Peripheral membrane protein (By similarity). Cell junction, tight junction (By similarity). Cell junction, synapse, synaptosome (By similarity). Note=Enriched in synaptosomes and at epithelial cell-cell junctions (By similarity). Mainly basolateral in renal epithelial cells. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9HAP6-1; Sequence=Displayed; Name=2; IsoId=Q9HAP6-2; Sequence=VSP_042156; The kinase interacting site is required for proper delivery of ERBB2 to the basolateral membrane (By similarity). The PDZ domain regulates endocytosis and recycling of the receptor at the membrane (By similarity). The L27 domain mediates interaction with CASK and is involved in the formation of multimeric complexes and the association of LIN7 to membranes (By similarity). Belongs to the lin-7 family. Contains 1 L27 domain. Contains 1 PDZ (DHR) domain. plasma membrane cell-cell junction bicellular tight junction exocytosis neurotransmitter secretion postsynaptic density protein transport membrane basolateral plasma membrane protein domain specific binding cell junction PDZ domain binding neuron projection maintenance of epithelial cell apical/basal polarity synapse postsynaptic membrane L27 domain binding MPP7-DLG1-LIN7 complex presynapse protein localization to basolateral plasma membrane uc002pmp.1 uc002pmp.2 uc002pmp.3 uc002pmp.4 
ENST00000221462.9 PPP1R37 ENST00000221462.9 Homo sapiens protein phosphatase 1 regulatory subunit 37 (PPP1R37), mRNA. (from RefSeq NM_019121) B5MDA4 ENST00000221462.1 ENST00000221462.2 ENST00000221462.3 ENST00000221462.4 ENST00000221462.5 ENST00000221462.6 ENST00000221462.7 ENST00000221462.8 KIAA1986 LRRC68 NM_019121 O75864 PPR37_HUMAN Q8IWK3 Q8TF16 uc021uvs.1 uc021uvs.2 uc021uvs.3 Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes. Interacts with PPP1CA. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75864-1; Sequence=Displayed; Name=2; IsoId=O75864-2; Sequence=VSP_031754, VSP_031755; Note=Due to an intron retention. No experimental confirmation available; Belongs to the PPP1R37 family. Contains 5 LRR (leucine-rich) repeats. Sequence=AAC62258.1; Type=Erroneous gene model prediction; Sequence=BAB85572.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; protein phosphatase inhibitor activity protein binding negative regulation of phosphatase activity negative regulation of phosphoprotein phosphatase activity uc021uvs.1 uc021uvs.2 uc021uvs.3 
ENST00000221466.10 FCGRT ENST00000221466.10 Homo sapiens Fc fragment of IgG receptor and transporter (FCGRT), transcript variant 1, mRNA. (from RefSeq NM_001136019) ENST00000221466.1 ENST00000221466.2 ENST00000221466.3 ENST00000221466.4 ENST00000221466.5 ENST00000221466.6 ENST00000221466.7 ENST00000221466.8 ENST00000221466.9 FCGRN_HUMAN FCRN NM_001136019 P55899 Q5HYM5 Q9HBV7 Q9NZ19 uc002poe.1 uc002poe.2 uc002poe.3 uc002poe.4 This gene encodes a receptor that binds the Fc region of monomeric immunoglobulin G. The encoded protein transfers immunoglobulin G antibodies from mother to fetus across the placenta. This protein also binds immunoglobulin G to protect the antibody from degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]. Binds to the Fc region of monomeric immunoglobulins gamma. Mediates the uptake of IgG from milk. Possible role in transfer of immunoglobulin G from mother to fetus. FcRn complex consist of two subunits: p51, and p14 which is equivalent to beta-2-microglobulin. It forms an MHC class I- like heterodimer (By similarity). Cell membrane; Single-pass type I membrane protein (By similarity). Belongs to the immunoglobulin superfamily. positive regulation of T cell mediated cytotoxicity IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor antigen processing and presentation of endogenous peptide antigen via MHC class Ib antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent extracellular space endosome plasma membrane immune response external side of plasma membrane endosome membrane membrane integral component of membrane IgG binding beta-2-microglobulin binding peptide antigen binding uc002poe.1 uc002poe.2 uc002poe.3 uc002poe.4 
ENST00000221476.4 CKM ENST00000221476.4 Homo sapiens creatine kinase, M-type (CKM), mRNA. (from RefSeq NM_001824) CKMM ENST00000221476.1 ENST00000221476.2 ENST00000221476.3 KCRM_HUMAN NM_001824 P06732 Q96QL9 uc002pbd.1 uc002pbd.2 uc002pbd.3 uc002pbd.4 uc002pbd.5 uc002pbd.6 The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis and is an important serum marker for myocardial infarction. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in striated muscle as well as in other tissues, and as a heterodimer with a similar brain isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC007462.1, SRR5189655.101838.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2158800, SAMEA2159607 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221476.4/ ENSP00000221476.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa. ATP + creatine = ADP + phosphocreatine. Dimer of identical or non-identical chains. With MM being the major form in skeletal muscle and myocardium, MB existing in myocardium, and BB existing in many tissues, especially brain. Cytoplasm. Belongs to the ATP:guanido phosphotransferase family. Contains 1 phosphagen kinase C-terminal domain. Contains 1 phosphagen kinase N-terminal domain. Name=Wikipedia; Note=Creatine kinase entry; URL="http://en.wikipedia.org/wiki/Creatine_kinase"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/ckm/"; Name=Wikipedia; Note=CKM entry; URL="http://en.wikipedia.org/wiki/CKM_(gene)"; nucleotide binding catalytic activity creatine kinase activity protein binding ATP binding extracellular space cytoplasm cytosol creatine metabolic process kinase activity phosphorylation transferase activity transferase activity, transferring phosphorus-containing groups phosphocreatine biosynthetic process uc002pbd.1 uc002pbd.2 uc002pbd.3 uc002pbd.4 uc002pbd.5 uc002pbd.6 
ENST00000221480.6 PEX11G ENST00000221480.6 Homo sapiens peroxisomal biogenesis factor 11 gamma (PEX11G), transcript variant 1, mRNA. (from RefSeq NM_080662) ENST00000221480.1 ENST00000221480.2 ENST00000221480.3 ENST00000221480.4 ENST00000221480.5 NM_080662 PEX11C PX11C_HUMAN Q8NDM0 Q96HA9 uc002mgk.1 uc002mgk.2 uc002mgk.3 uc002mgk.4 The protein encoded by this gene is a member of the PEX11 family. This family is reported to regulate the number and size of peroxisomes in evolutionarily distant organisms. The protein encoded by this gene may induce clustering of peroxisomes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]. Peroxisome membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96HA9-1; Sequence=Displayed; Name=2; IsoId=Q96HA9-2; Sequence=VSP_013539; Note=No experimental confirmation available; Belongs to the peroxin-11 family. protein binding peroxisome peroxisomal membrane integral component of peroxisomal membrane membrane integral component of membrane peroxisome fission intrinsic component of peroxisomal membrane macromolecular complex regulation of peroxisome size uc002mgk.1 uc002mgk.2 uc002mgk.3 uc002mgk.4 
ENST00000221485.8 SLC17A7 ENST00000221485.8 Homo sapiens solute carrier family 17 member 7 (SLC17A7), mRNA. (from RefSeq NM_020309) BNPI ENST00000221485.1 ENST00000221485.2 ENST00000221485.3 ENST00000221485.4 ENST00000221485.5 ENST00000221485.6 ENST00000221485.7 NM_020309 Q6PCD0 Q9P2U7 VGLU1_HUMAN VGLUT1 uc002pnp.1 uc002pnp.2 uc002pnp.3 uc002pnp.4 uc002pnp.5 The protein encoded by this gene is a vesicle-bound, sodium-dependent phosphate transporter that is specifically expressed in the neuron-rich regions of the brain. It is preferentially associated with the membranes of synaptic vesicles and functions in glutamate transport. The protein shares 82% identity with the differentiation-associated Na-dependent inorganic phosphate cotransporter and they appear to form a distinct class within the Na+/Pi cotransporter family. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from transcript and genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC059379.1, SRR3476690.554678.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221485.8/ ENSP00000221485.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane (By similarity). Membrane; Multi-pass membrane protein (Potential). Cell junction, synapse, synaptosome (By similarity). Expressed in several regions of the brain including amygdala, cerebellum, cerebral cortex, hippocampus, frontal lobe, medulla, occipital lobe, putamen and temporal lobe. Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. VGLUT subfamily. neural retina development L-glutamate transmembrane transporter activity inorganic phosphate transmembrane transporter activity neurotransmitter transporter activity plasma membrane integral component of plasma membrane ion transport sodium ion transport phosphate ion transport neurotransmitter transport chemical synaptic transmission brain development long-term memory synaptic vesicle extracellular-glutamate-gated chloride channel activity glutamate secretion symporter activity sodium:inorganic phosphate symporter activity sodium-dependent phosphate transmembrane transporter activity L-glutamate transport membrane integral component of membrane cell junction integral component of synaptic vesicle membrane synaptic vesicle membrane cytoplasmic vesicle synaptic transmission, glutamatergic sodium ion transmembrane transport sequestering of neurotransmitter neuron projection intracellular organelle cerebellar mossy fiber sodium-dependent phosphate transport synapse presynaptic active zone regulation of synapse structure or activity L-glutamate import transmembrane transport excitatory synapse excitatory postsynaptic potential clathrin-sculpted glutamate transport vesicle membrane synaptic vesicle lumen acidification neurotransmitter loading into synaptic vesicle postsynapse regulation of synaptic vesicle endocytosis chloride transmembrane transport uc002pnp.1 uc002pnp.2 uc002pnp.3 uc002pnp.4 uc002pnp.5 
ENST00000221486.6 RNASEH2A ENST00000221486.6 Homo sapiens ribonuclease H2 subunit A (RNASEH2A), mRNA. (from RefSeq NM_006397) B2RCY1 ENST00000221486.1 ENST00000221486.2 ENST00000221486.3 ENST00000221486.4 ENST00000221486.5 NM_006397 O75792 Q96F11 RNASEHI RNH2A_HUMAN RNHIA uc002mvg.1 uc002mvg.2 uc002mvg.3 uc002mvg.4 The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK315327.1, AY363912.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221486.6/ ENSP00000221486.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Catalytic subunit of RNase HII, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging- strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes. Endonucleolytic cleavage to 5'- phosphomonoester. Manganese or magnesium. Binds 1 divalent metal ion per monomer in the absence of substrate. May bind a second metal ion after substrate binding (By similarity). The RNase H2 complex is a heterotrimer composed of the catalytic subunit RNASEH2A and the non-catalytic subunits RNASEH2B and RNASEH2C. Nucleus (Probable). Defects in RNASEH2A are the cause of Aicardi-Goutieres syndrome type 4 (AGS4) [MIM:610333]. A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. Belongs to the RNase HII family. Eukaryotic subfamily. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RNASEH2A"; nucleic acid binding RNA binding nuclease activity endonuclease activity RNA-DNA hybrid ribonuclease activity ribonuclease activity nucleus nucleoplasm cytosol DNA replication mismatch repair RNA catabolic process RNA metabolic process hydrolase activity ribonuclease H2 complex DNA replication, removal of RNA primer metal ion binding nucleic acid phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis, endonucleolytic uc002mvg.1 uc002mvg.2 uc002mvg.3 uc002mvg.4 
ENST00000221494.10 SF3A2 ENST00000221494.10 Homo sapiens splicing factor 3a subunit 2 (SF3A2), mRNA. (from RefSeq NM_007165) B2RBU1 D6W605 ENST00000221494.1 ENST00000221494.2 ENST00000221494.3 ENST00000221494.4 ENST00000221494.5 ENST00000221494.6 ENST00000221494.7 ENST00000221494.8 ENST00000221494.9 NM_007165 O75245 Q15428 SAP62 SF3A2_HUMAN uc002lvg.1 uc002lvg.2 uc002lvg.3 uc002lvg.4 uc002lvg.5 This gene encodes subunit 2 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 2 interacts with subunit 1 through its amino-terminus while the single zinc finger domain of subunit 2 plays a role in its binding to the 15S U2 snRNP. Subunit 2 may also function independently of its RNA splicing function as a microtubule-binding protein. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC009903.2, SRR3476690.238362.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221494.10/ ENSP00000221494.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Subunit of the splicing factor SF3A required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the 'E' complex. Component of splicing factor SF3A which is composed of three subunits; SF3A3/SAP61, SF3A2/SAP62, SF3A1/SAP114. SF3A associates with the splicing factor SF3B and a 12S RNA unit to form the U2 small nuclear ribonucleoproteins complex (U2 snRNP). Identified in the spliceosome C complex. Interacts with HTATSF1. Nucleus (By similarity). Belongs to the SF3A2 family. Contains 1 matrin-type zinc finger. spliceosomal complex assembly mRNA 3'-splice site recognition mRNA splicing, via spliceosome nucleic acid binding RNA binding protein binding nucleus nucleoplasm spliceosomal complex U2 snRNP mRNA processing zinc ion binding RNA splicing positive regulation of neuron projection development nuclear speck metal ion binding U2-type prespliceosome U2-type precatalytic spliceosome catalytic step 2 spliceosome U2-type prespliceosome assembly uc002lvg.1 uc002lvg.2 uc002lvg.3 uc002lvg.4 uc002lvg.5 
ENST00000221496.5 AMH ENST00000221496.5 Homo sapiens anti-Mullerian hormone (AMH), mRNA. (from RefSeq NM_000479) ENST00000221496.1 ENST00000221496.2 ENST00000221496.3 ENST00000221496.4 MIF MIS_HUMAN NM_000479 O75246 P03971 Q6GTN3 uc002lvh.1 uc002lvh.2 uc002lvh.3 uc002lvh.4 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate N- and C-terminal cleavage products that homodimerize and associate to form a biologically active noncovalent complex. This complex binds to the anti-Mullerian hormone receptor type 2 and causes the regression of Mullerian ducts in the male embryo that would otherwise differentiate into the uterus and fallopian tubes. This protein also plays a role in Leydig cell differentiation and function and follicular development in adult females. Mutations in this gene result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC049194.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221496.5/ ENSP00000221496.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## This glycoprotein, produced by the Sertoli cells of the testis, causes regression of the Muellerian duct. It is also able to inhibit the growth of tumors derived from tissues of Muellerian duct origin. Homodimer; disulfide-linked. Secreted. Defects in AMH are the cause of persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]. PMDS1 is a form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males. Although it does not compete with EGF for receptor binding sites, MIS can inhibit the autophosphorylation of the EGF receptor in vitro. Belongs to the TGF-beta family. Name=Wikipedia; Note=Anti-Mullerian hormone entry; URL="http://en.wikipedia.org/wiki/Anti-m%C3%BCllerian_hormone"; preantral ovarian follicle growth urogenital system development Mullerian duct regression receptor binding transforming growth factor beta receptor binding hormone activity extracellular region extracellular space cell-cell signaling gonadal mesoderm development sex determination sex differentiation aging growth factor activity gonad development positive regulation of gene expression response to organic cyclic compound cell differentiation BMP signaling pathway response to drug positive regulation of NF-kappaB transcription factor activity negative regulation of ovarian follicle development uc002lvh.1 uc002lvh.2 uc002lvh.3 uc002lvh.4 
ENST00000221498.7 DKKL1 ENST00000221498.7 Homo sapiens dickkopf like acrosomal protein 1 (DKKL1), transcript variant 1, mRNA. (from RefSeq NM_014419) DKKL1_HUMAN ENST00000221498.1 ENST00000221498.2 ENST00000221498.3 ENST00000221498.4 ENST00000221498.5 ENST00000221498.6 NM_014419 Q9UK85 SGY1 UNQ735/PRO1429 uc002pnk.1 uc002pnk.2 uc002pnk.3 uc002pnk.4 uc002pnk.5 The dickkopf protein family interacts with the Wnt signaling pathway and its members are characterized by two conserved cysteine-rich domains. This gene encodes a secreted protein that has low sequence similarity to the dickkopf-3 protein. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2010]. Secreted. N-glycosylated. To the N-terminal section of DKK-3. acrosomal vesicle extracellular region extracellular space penetration of zona pellucida anatomical structure morphogenesis cytoplasmic vesicle co-receptor binding positive regulation of apoptotic process positive regulation of fat cell differentiation receptor antagonist activity negative regulation of canonical Wnt signaling pathway negative regulation of testosterone biosynthetic process negative regulation of receptor activity uc002pnk.1 uc002pnk.2 uc002pnk.3 uc002pnk.4 uc002pnk.5 
ENST00000221515.6 RETN ENST00000221515.6 Homo sapiens resistin (RETN), transcript variant 1, mRNA. (from RefSeq NM_020415) D6W649 ENST00000221515.1 ENST00000221515.2 ENST00000221515.3 ENST00000221515.4 ENST00000221515.5 FIZZ3 HXCP1 NM_020415 Q540D9 Q9HD89 RETN_HUMAN RSTN UNQ407/PRO1199 uc002mhf.1 uc002mhf.2 uc002mhf.3 This gene belongs to the family defined by the mouse resistin-like genes. The characteristic feature of this family is the C-terminal stretch of 10 cys residues with identical spacing. The mouse homolog of this protein is secreted by adipocytes, and may be the hormone potentially linking obesity to type II diabetes. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]. Hormone that seems to suppress insulin ability to stimulate glucose uptake into adipose cells. Potentially links obesity to diabetes. Homodimer; disulfide-linked (By similarity). Secreted. Expressed only in fatty tissues. Belongs to the resistin/FIZZ family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/retn/"; hormone activity extracellular region extracellular space nucleus signal transduction aging biological_process response to mechanical stimulus response to insulin azurophil granule lumen specific granule lumen neutrophil degranulation fat cell differentiation positive regulation of synaptic transmission extracellular exosome negative regulation of feeding behavior positive regulation of progesterone secretion uc002mhf.1 uc002mhf.2 uc002mhf.3 
ENST00000221538.8 RSPH6A ENST00000221538.8 Homo sapiens radial spoke head 6 homolog A (RSPH6A), mRNA. (from RefSeq NM_030785) ENST00000221538.1 ENST00000221538.2 ENST00000221538.3 ENST00000221538.4 ENST00000221538.5 ENST00000221538.6 ENST00000221538.7 NM_030785 Q53FE2 Q6PEZ9 Q9H0K4 RSH6A_HUMAN RSHL1 uc002pdm.1 uc002pdm.2 uc002pdm.3 uc002pdm.4 uc002pdm.5 The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of doublet microtubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to regulate the activity of dynein and the symmetry of flagellar bending patterns. This gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2). [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AL136761.1, AK098837.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221538.8/ ENSP00000221538.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Belongs to the flagellar radial spoke RSP4/6 family. radial spoke intracellular cilium assembly cilium movement involved in cell motility uc002pdm.1 uc002pdm.2 uc002pdm.3 uc002pdm.4 uc002pdm.5 
ENST00000221543.10 TBC1D17 ENST00000221543.10 Homo sapiens TBC1 domain family member 17 (TBC1D17), transcript variant 1, mRNA. (from RefSeq NM_024682) ENST00000221543.1 ENST00000221543.2 ENST00000221543.3 ENST00000221543.4 ENST00000221543.5 ENST00000221543.6 ENST00000221543.7 ENST00000221543.8 ENST00000221543.9 NM_024682 Q9HA65 TBC17_HUMAN uc002pqo.1 uc002pqo.2 uc002pqo.3 uc002pqo.4 uc002pqo.5 May act as a GTPase-activating protein for Rab family protein(s). Contains 1 Rab-GAP TBC domain. GTPase activator activity protein binding autophagosome cytosol intracellular protein transport autophagy protein transport Rab GTPase binding cytoplasmic vesicle retrograde transport, endosome to Golgi recycling endosome activation of GTPase activity regulation of cilium assembly uc002pqo.1 uc002pqo.2 uc002pqo.3 uc002pqo.4 uc002pqo.5 
ENST00000221573.11 SNAPC2 ENST00000221573.11 Homo sapiens small nuclear RNA activating complex polypeptide 2 (SNAPC2), transcript variant 1, mRNA. (from RefSeq NM_003083) B2RBZ6 D6W663 ENST00000221573.1 ENST00000221573.10 ENST00000221573.2 ENST00000221573.3 ENST00000221573.4 ENST00000221573.5 ENST00000221573.6 ENST00000221573.7 ENST00000221573.8 ENST00000221573.9 NM_003083 Q13486 Q13487 SNAP45 SNPC2_HUMAN uc002miw.1 uc002miw.2 uc002miw.3 uc002miw.4 This gene encodes a subunit of the snRNA-activating protein complex which is associated with the TATA box-binding protein. The encoded protein is necessary for RNA polymerase II and III dependent small-nuclear RNA gene transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]. Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box. Part of the SNAPc complex composed of 5 subunits: SNAPC1, SNAPC2, SNAPC3, SNAPC4 and SNAPC5. SNAPC2 interacts with TBP and SNAPC4. Nucleus. transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm cytosol regulation of transcription, DNA-templated transcription from RNA polymerase II promoter transcription from RNA polymerase III promoter snRNA transcription nuclear body snRNA transcription from RNA polymerase II promoter uc002miw.1 uc002miw.2 uc002miw.3 uc002miw.4 
ENST00000221665.5 FIZ1 ENST00000221665.5 Homo sapiens FLT3 interacting zinc finger 1 (FIZ1), mRNA. (from RefSeq NM_032836) A2RU72 ENST00000221665.1 ENST00000221665.2 ENST00000221665.3 ENST00000221665.4 FIZ1_HUMAN NM_032836 Q6ZMJ7 Q96SL8 ZNF798 uc002qli.1 uc002qli.2 uc002qli.3 uc002qli.4 uc002qli.5 This gene encodes zinc finger protein, which interacts with a receptor tyrosine kinase involved in the regulation of hematopoietic and lymphoid cells. This gene product also interacts with a transcription factor that regulates the expression of rod-specific genes in retina. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AK027674.1, SRR1163657.14902.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2154405 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221665.5/ ENSP00000221665.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## May be a transcriptional repressor of NRL function in photoreceptors. Does not repress CRX-mediated transactivation (By similarity). Interacts with FLT3 cytoplasmic catalytic domain, following receptor stimulation, in a kinase-independent manner. Does not interact with other structurally related receptor tyrosine kinases, including KIT, CSF1R and PDGFR. Interacts with NRL (By similarity). Cytoplasm (By similarity). Nucleus (By similarity). Widely expressed. Contains 11 C2H2-type zinc fingers. Sequence=BAD18728.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; positive regulation of protein phosphorylation nucleic acid binding nucleus cytoplasm receptor tyrosine kinase binding metal ion binding uc002qli.1 uc002qli.2 uc002qli.3 uc002qli.4 uc002qli.5 
ENST00000221671.8 C19orf44 ENST00000221671.8 Homo sapiens chromosome 19 open reading frame 44 (C19orf44), transcript variant 1, mRNA. (from RefSeq NM_032207) CS044_HUMAN ENST00000221671.1 ENST00000221671.2 ENST00000221671.3 ENST00000221671.4 ENST00000221671.5 ENST00000221671.6 ENST00000221671.7 NM_032207 Q8N6Y7 Q9H6X5 uc002neh.1 uc002neh.2 uc002neh.3 uc002neh.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H6X5-1; Sequence=Displayed; Name=2; IsoId=Q9H6X5-2; Sequence=VSP_026311; Note=No experimental confirmation available; protein binding uc002neh.1 uc002neh.2 uc002neh.3 uc002neh.4 
ENST00000221700.11 CYP4F2 ENST00000221700.11 Homo sapiens cytochrome P450 family 4 subfamily F member 2 (CYP4F2), mRNA. (from RefSeq NM_001082) A8K425 CP4F2_HUMAN ENST00000221700.1 ENST00000221700.10 ENST00000221700.2 ENST00000221700.3 ENST00000221700.4 ENST00000221700.5 ENST00000221700.6 ENST00000221700.7 ENST00000221700.8 ENST00000221700.9 NM_001082 P78329 Q16677 Q6NWT4 Q6NWT6 Q9NNZ0 Q9UIU8 uc002nbs.1 uc002nbs.2 uc002nbs.3 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F11, is approximately 16 kb away. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK290790.1, U02388.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2152474, SAMEA2153946 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221700.11/ ENSP00000221700.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. (6Z,8E,10E,14Z)-(5S,12R)-5,12-dihydroxyicosa- 6,8,10,14-tetraenoate + NADPH + O(2) = (6Z,8E,10E,14Z)-(5S,12R)- 5,12,20-trihydroxyicosa-6,8,10,14-tetraenoate + NADP(+) + H(2)O. Heme group (By similarity). P16333:NCK1; NbExp=2; IntAct=EBI-1752413, EBI-389883; Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein. Liver. Belongs to the cytochrome P450 family. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/cyp4f2/"; very long-chain fatty acid metabolic process long-chain fatty acid metabolic process renal water homeostasis pressure natriuresis monooxygenase activity iron ion binding protein binding cytoplasm endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process fatty acid metabolic process icosanoid metabolic process leukotriene metabolic process blood coagulation regulation of blood pressure arachidonic acid epoxygenase activity membrane apical plasma membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen drug metabolic process alkane 1-monooxygenase activity arachidonic acid metabolic process epoxygenase P450 pathway heme binding organelle membrane negative regulation of icosanoid secretion positive regulation of icosanoid secretion leukotriene B4 catabolic process vitamin E metabolic process menaquinone catabolic process phylloquinone catabolic process vitamin K catabolic process intracellular membrane-bounded organelle metal ion binding leukotriene-B4 20-monooxygenase activity arachidonic acid omega-hydroxylase activity alpha-tocopherol omega-hydroxylase activity tocotrienol omega-hydroxylase activity sodium ion homeostasis oxidation-reduction process aromatase activity omega-hydroxylase P450 pathway uc002nbs.1 uc002nbs.2 uc002nbs.3 
ENST00000221797.5 LGALS13 ENST00000221797.5 Homo sapiens galectin 13 (LGALS13), mRNA. (from RefSeq NM_013268) C5HZ15 ENST00000221797.1 ENST00000221797.2 ENST00000221797.3 ENST00000221797.4 NM_013268 PLAC8 PP13_HUMAN Q9UHV8 uc002omb.1 uc002omb.2 uc002omb.3 uc002omb.4 uc002omb.5 Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene has lysophospholipase activity. It is composed of two identical subunits which are held together by disulfide bonds. This protein has structural similarity to several members of the beta-galactoside-binding S-type lectin family. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC066304.1, CB995660.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2149398, SAMEA2153307 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221797.5/ ENSP00000221797.3 RefSeq Select criteria :: based on expression ##RefSeq-Attributes-END## Has lysophospholipase activity. 2-lysophosphatidylcholine + H(2)O = glycerophosphocholine + a carboxylate. Homodimer; disulfide-linked. Detected in adult and fetal spleen, fetal kidney, adult urinary bladder and placenta. Placental expression originates predominantly from the syncytiotrophoblast. Contains 1 galectin domain. lysophospholipase activity protein binding nucleus cytoplasm phospholipid metabolic process apoptotic process nuclear matrix carbohydrate binding positive regulation of T cell apoptotic process uc002omb.1 uc002omb.2 uc002omb.3 uc002omb.4 uc002omb.5 
ENST00000221801.8 FBL ENST00000221801.8 Homo sapiens fibrillarin (FBL), mRNA. (from RefSeq NM_001436) B5BUE8 ENST00000221801.1 ENST00000221801.2 ENST00000221801.3 ENST00000221801.4 ENST00000221801.5 ENST00000221801.6 ENST00000221801.7 FBRL_HUMAN FIB1 FLRN NM_001436 O75259 P22087 Q6IAT5 Q9UPI6 uc002omn.1 uc002omn.2 uc002omn.3 uc002omn.4 uc002omn.5 This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate in the first step in processing preribosomal RNA. It is associated with the U3, U8, and U13 small nuclear RNAs and is located in the dense fibrillar component (DFC) of the nucleolus. The encoded protein contains an N-terminal repetitive domain that is rich in glycine and arginine residues, like fibrillarins in other species. Its central region resembles an RNA-binding domain and contains an RNP consensus sequence. Antisera from approximately 8% of humans with the autoimmune disease scleroderma recognize fibrillarin. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC019260.1, SRR1163658.428476.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221801.8/ ENSP00000221801.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Involved in pre-rRNA processing. Utilizes the methyl donor S-adenosyl-L-methionine to catalyze the site-specific 2'- hydroxyl methylation of ribose moieties in pre-ribosomal RNA. Site specificity is provided by a guide RNA that base pairs with the substrate. Methylation occurs at a characteristic distance from the sequence involved in base pairing with the guide RNA. Interacts with NOLC1 (By similarity). Component of box C/D small nucleolar ribonucleoprotein (snoRNP) particles that contain NHP2L1, FBL, NOP5 and NOP56, plus a guide RNA. It is associated with the U3, U8, U13, X and Y small nuclear RNAs. Component of several ribosomal and nucleolar protein complexes. Interacts with PRMT5 and UTP20. Interacts with DDX5. P17844:DDX5; NbExp=6; IntAct=EBI-358318, EBI-351962; Nucleus, nucleolus. Note=Fibrillar region of the nucleolus. By homology to other fibrillarins, some or all of the N- terminal domain arginines are modified to asymmetric dimethylarginine (DMA). Belongs to the methyltransferase superfamily. Fibrillarin family. box C/D snoRNA 3'-end processing TFIID-class transcription factor binding osteoblast differentiation fibrillar center dense fibrillar component granular component RNA binding protein binding nucleus nucleoplasm chromosome nucleolus rRNA processing methyltransferase activity rRNA methyltransferase activity Cajal body membrane snoRNA metabolic process transferase activity rRNA methylation box C/D snoRNP complex small-subunit processome methylation snoRNA localization ATPase binding extracellular exosome histone glutamine methylation histone-glutamine methyltransferase activity uc002omn.1 uc002omn.2 uc002omn.3 uc002omn.4 uc002omn.5 
ENST00000221804.5 CLC ENST00000221804.5 Homo sapiens Charcot-Leyden crystal galectin (CLC), mRNA. (from RefSeq NM_001828) ENST00000221804.1 ENST00000221804.2 ENST00000221804.3 ENST00000221804.4 LPPL_HUMAN NM_001828 Q05315 Q0VDE3 uc002omh.1 uc002omh.2 uc002omh.3 uc002omh.4 uc002omh.5 Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. It is both structurally and functionally related to the galectin family of beta-galactoside binding proteins. It may be associated with inflammation and some myeloid leukemias. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AV715152.1, AV714984.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221804.5/ ENSP00000221804.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May have both lysophospholipase and carbohydrate-binding activities. 2-lysophosphatidylcholine + H(2)O = glycerophosphocholine + a carboxylate. Cytoplasmic granule. Note=Localized in granules from where it may be secreted or transported to other locations in the cell. Expressed exclusively by eosinophils and basophils. Not detected in monocytes and neutrophils. Forms hexagonal bipyramidal crystals, known as Charcot-Leyden crystals, in tissues and secretions from sites of eosinophil-associated inflammation and some myeloid leukemias. Contains 1 galectin domain. Name=Functional Glycomics Gateway - Glycan Binding; Note=Galectin-10; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Stlect_277"; regulation of T cell anergy regulation of T cell cytokine production protein binding cytoplasm cytosol multicellular organism development carbohydrate binding identical protein binding regulation of activated T cell proliferation T cell apoptotic process cysteine-type endopeptidase activity involved in apoptotic process lysophospholipase activity uc002omh.1 uc002omh.2 uc002omh.3 uc002omh.4 uc002omh.5 
ENST00000221847.6 EBI3 ENST00000221847.6 Homo sapiens Epstein-Barr virus induced 3 (EBI3), mRNA. (from RefSeq NM_005755) A0N0N2 ENST00000221847.1 ENST00000221847.2 ENST00000221847.3 ENST00000221847.4 ENST00000221847.5 IL27B IL27B_HUMAN NM_005755 O75269 Q14213 uc002lzu.1 uc002lzu.2 uc002lzu.3 uc002lzu.4 uc002lzu.5 This gene was identified by its induced expression in B lymphocytes in response Epstein-Barr virus infection. It encodes a secreted glycoprotein belonging to the hematopoietin receptor family, and heterodimerizes with a 28 kDa protein to form interleukin 27 (IL-27). IL-27 regulates T cell and inflammatory responses, in part by activating the Jak/STAT pathway of CD4+ T cells. [provided by RefSeq, Sep 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC015364.1, SRR1163657.205051.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221847.6/ ENSP00000221847.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Cytokine with pro- and anti-inflammatory properties, that can regulate T-helper cell development, suppress T-cell proliferation, stimulate cytotoxic T-cell activity, induce isotype switching in B-cells, and that has diverse effects on innate immune cells. Among its target cells are CD4 T-helper cells which can differentiate in type 1 effector cells (TH1), type 2 effector cells (TH2) and IL17 producing helper T-cells (TH17). It drives rapid clonal expansion of naive but not memory CD4 T-cells. It also strongly synergizes with IL-12 to trigger interferon- gamma/IFN-gamma production of naive CD4 T-cells, binds to the cytokine receptor WSX-1/TCCR. Another important role of IL27 is its antitumor activity as well as its antiangiogenic activity with activation of production of antiangiogenic chemokines. Heterodimer with IL27. IL-27 is a heterodimer composed IL27 and EBI3. EBI3 is also a component of the IL-12 heterodimer. Interacts with SQSTM1. Secreted. By Epstein-Barr virus (EBV). Belongs to the type I cytokine receptor family. Type 3 subfamily. Contains 2 fibronectin type-III domains. Name=Wikipedia; Note=Interleukin-27 entry; URL="http://en.wikipedia.org/wiki/Interleukin_27"; cytokine receptor activity cytokine activity protein binding extracellular region extracellular space endoplasmic reticulum lumen plasma membrane humoral immune response external side of plasma membrane membrane cytokine binding T-helper 1 type immune response T cell proliferation receptor complex positive regulation of interferon-gamma biosynthetic process interleukin-27 receptor binding positive regulation of alpha-beta T cell proliferation interleukin-27-mediated signaling pathway interleukin-35-mediated signaling pathway uc002lzu.1 uc002lzu.2 uc002lzu.3 uc002lzu.4 uc002lzu.5 
ENST00000221855.8 TBCB ENST00000221855.8 Homo sapiens tubulin folding cofactor B (TBCB), transcript variant 3, non-coding RNA. (from RefSeq NR_155756) CG22 CKAP1 ENST00000221855.1 ENST00000221855.2 ENST00000221855.3 ENST00000221855.4 ENST00000221855.5 ENST00000221855.6 ENST00000221855.7 NR_155756 O00111 O00674 O14728 Q99426 TBCB_HUMAN uc002odg.1 uc002odg.2 uc002odg.3 Binds to alpha-tubulin folding intermediates after their interaction with cytosolic chaperonin in the pathway leading from newly synthesized tubulin to properly folded heterodimer. Involved in regulation of tubulin heterodimer dissociation. May function as a negative regulator of axonal growth. Supercomplex made of cofactors A to E. Cofactors A and D function by capturing and stabilizing tubulin in a quasi-native conformation. Cofactor E binds to the cofactor D-tubulin complex; interaction with cofactor C then causes the release of tubulin polypeptides that are committed to the native state. Cofactors B and E can form a heterodimer which binds to alpha-tubulin and enhances their ability to dissociate tubulin heterodimers. Binds to GAN. Q9H2C0:GAN; NbExp=3; IntAct=EBI-764356, EBI-764342; Q93009:USP7; NbExp=2; IntAct=EBI-764356, EBI-302474; Cytoplasm. Cytoplasm, cytoskeleton. Note=Colocalizes with microtubules. In differentiated neurons, located in the cytoplasm. In differentiating neurons, accumulates at the growth cone. Found in most tissues. Phosphorylation by PAK1 is required for normal function. Phosphorylated upon DNA damage, probably by ATM or ATR. Ubiquitinated in the presence of GAN which targets it for degradation by the proteasome (By similarity). Belongs to the TBCB family. Contains 1 CAP-Gly domain. Sequence=AAB51182.1; Type=Erroneous gene model prediction; protein binding cytoplasm cytosol cytoskeleton microtubule multicellular organism development nervous system development microtubule cytoskeleton cell differentiation uc002odg.1 uc002odg.2 uc002odg.3 
ENST00000221856.11 FSD1 ENST00000221856.11 Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), transcript variant 1, mRNA. (from RefSeq NM_024333) B2RDT0 ENST00000221856.1 ENST00000221856.10 ENST00000221856.2 ENST00000221856.3 ENST00000221856.4 ENST00000221856.5 ENST00000221856.6 ENST00000221856.7 ENST00000221856.8 ENST00000221856.9 FSD1_HUMAN GLFND MIR1 NM_024333 Q9BTV5 Q9BXN0 Q9HAG4 VLP27 uc002lzy.1 uc002lzy.2 uc002lzy.3 uc002lzy.4 This gene encodes a centrosome associated protein that is characterized by an N-terminal coiled-coil region downstream of B-box (BBC) domain, a central fibronectin type III domain, and a C-terminal repeats in splA and RyR (SPRY) domain. The encoded protein associates with a subset of microtubules and may be involved in the stability and organization of microtubules during cytokinesis. [provided by RefSeq, Apr 2009]. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.965954.1, SRR3476690.765012.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221856.11/ ENSP00000221856.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## May be involved in microtubule organization and stabilization. Oligomerization is required for binding to microtubules. Cytoplasm, cytoskeleton, centrosome. Nucleus. Cytoplasm. Cleavage furrow. Note=Cell-cycle-dependent association with the centrosome. Colocalizes with a subpopulation of microtubules. Does not associates with microtubules during mitosis but reassociates with microtubules during cytokinesis. Localizes to the central portions of a small subset of microtubules in interphase cells and a subpopulation of microtubules in the cleavage furrow, not present in the mitotic spindle. Highly expressed in brain tissues, including cerebellum, cerebral cortex, medulla, occipital pole, frontal lobe, temporal lobe and putamen. Lower expression in spinal chord. B30.2 box contains a microtubule-binding site. Contains 1 B30.2/SPRY domain. Contains 1 COS domain. Contains 1 fibronectin type-III domain. nucleus cytoplasm centrosome microtubule organizing center cytoskeleton microtubule cell cycle microtubule binding cytoplasmic microtubule organization cleavage furrow regulation of cytokinesis protein homodimerization activity protein homooligomerization cell division regulation of cell division regulation of mitotic spindle organization uc002lzy.1 uc002lzy.2 uc002lzy.3 uc002lzy.4 
ENST00000221859.9 POLR2I ENST00000221859.9 Homo sapiens RNA polymerase II subunit I (POLR2I), mRNA. (from RefSeq NM_006233) B2R5J2 ENST00000221859.1 ENST00000221859.2 ENST00000221859.3 ENST00000221859.4 ENST00000221859.5 ENST00000221859.6 ENST00000221859.7 ENST00000221859.8 NM_006233 P36954 Q6NW05 RPB9_HUMAN uc002ode.1 uc002ode.2 uc002ode.3 uc002ode.4 uc002ode.5 This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with two other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. The product of this gene has two zinc finger motifs with conserved cysteines and the subunit does possess zinc binding activity. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC017112.1, SRR1163655.549868.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2467144 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221859.9/ ENSP00000221859.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB9 is part of the upper jaw surrounding the central large cleft and thought to grab the incoming DNA template (By similarity). Component of the RNA polymerase II (Pol II) complex consisting of 12 subunits. Nucleus. Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the archaeal RpoM/eukaryotic RPA12/RPB9/RPC11 RNA polymerase family. Contains 1 TFIIS-type zinc finger. mRNA splicing, via spliceosome maintenance of transcriptional fidelity during DNA-templated transcription elongation from RNA polymerase II promoter nucleic acid binding DNA-directed 5'-3' RNA polymerase activity nucleus nucleoplasm DNA-directed RNA polymerase II, core complex nucleolus transcription-coupled nucleotide-excision repair transcription, DNA-templated transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter transcription elongation from RNA polymerase II promoter 7-methylguanosine mRNA capping mRNA cleavage zinc ion binding fibroblast growth factor receptor signaling pathway RNA metabolic process somatic stem cell population maintenance snRNA transcription from RNA polymerase II promoter metal ion binding positive regulation of viral transcription regulation of gene silencing by miRNA uc002ode.1 uc002ode.2 uc002ode.3 uc002ode.4 uc002ode.5 
ENST00000221891.9 APLP1 ENST00000221891.9 Homo sapiens amyloid beta precursor like protein 1 (APLP1), transcript variant 1, mRNA. (from RefSeq NM_001024807) APLP1_HUMAN ENST00000221891.1 ENST00000221891.2 ENST00000221891.3 ENST00000221891.4 ENST00000221891.5 ENST00000221891.6 ENST00000221891.7 ENST00000221891.8 NM_001024807 O00113 P51693 Q96A92 uc002ocf.1 uc002ocf.2 uc002ocf.3 uc002ocf.4 uc002ocf.5 This gene encodes a member of the highly conserved amyloid precursor protein gene family. The encoded protein is a membrane-associated glycoprotein that is cleaved by secretases in a manner similar to amyloid beta A4 precursor protein cleavage. This cleavage liberates an intracellular cytoplasmic fragment that may act as a transcriptional activator. The encoded protein may also play a role in synaptic maturation during cortical development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. May play a role in postsynaptic function. The C-terminal gamma-secretase processed fragment, ALID1, activates transcription activation through APBB1 (Fe65) binding (By similarity). Couples to JIP signal transduction through C-terminal binding. May interact with cellular G-protein signaling pathways. Can regulate neurite outgrowth through binding to components of the extracellular matrix such as heparin and collagen I. The gamma-CTF peptide, C30, is a potent enhancer of neuronal apoptosis (By similarity). Monomer and homodimer. Heparin binding promotes homodimerization. Binds, via its C-terminus, to the PID domain of several cytoplasmic proteins, including APBB and APBA family members, MAPK8IP1 and Dab1 (By similarity). Binding to Dab1 inhibits its serine phosphorylation (By similarity). Interacts with CPEB1. Interacts (via NPXY motif) with DAB2 (via PID domain); the interaction is impaired by tyrosine phosphorylation of the NPXY motif. Interacts (via NPXY motif) with DAB1 (By similarity). Self; NbExp=3; IntAct=EBI-74648, EBI-74648; Q06481:APLP2; NbExp=2; IntAct=EBI-74648, EBI-79306; P05067-4:APP; NbExp=2; IntAct=EBI-74648, EBI-302641; P17028:ZNF24; NbExp=2; IntAct=EBI-74648, EBI-707773; Cell membrane; Single-pass type I membrane protein. C30: Cytoplasm. Note=C-terminally processed in the Golgi complex. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P51693-1; Sequence=Displayed; Name=2; IsoId=P51693-2; Sequence=VSP_039100; Expressed in the cerebral cortex where it is localized to the postsynaptic density (PSD). The NPXY sequence motif found in many tyrosine- phosphorylated proteins is required for the specific binding of the PID domain. However, additional amino acids either N- or C- terminal to the NPXY motif are often required for complete interaction. The NPXY site is also involved in clathrin-mediated endocytosis. Proteolytically cleaved by caspases during neuronal apoptosis. Cleaved, in vitro, at Asp-620 by caspase-3 (By similarity). N- and O-glycosylated. O-glycosylation with core 1 or possibly core 8 glycans. Glycosylation on Ser-227 is the preferred site to Thr-228. Binds zinc and copper in the extracellular domain. Zinc-binding increases heparin binding. No Cu(2+) reducing activity with copper-binding. Belongs to the APP family. protein binding basement membrane cytoplasm plasma membrane endocytosis apoptotic process cell adhesion nervous system development heparin binding animal organ morphogenesis membrane integral component of membrane alpha-2A adrenergic receptor binding alpha-2B adrenergic receptor binding alpha-2C adrenergic receptor binding identical protein binding metal ion binding transition metal ion binding perinuclear region of cytoplasm cellular response to norepinephrine stimulus uc002ocf.1 uc002ocf.2 uc002ocf.3 uc002ocf.4 uc002ocf.5 
ENST00000221922.11 CCDC9 ENST00000221922.11 Homo sapiens coiled-coil domain containing 9 (CCDC9), mRNA. (from RefSeq NM_015603) CCDC9_HUMAN ENST00000221922.1 ENST00000221922.10 ENST00000221922.2 ENST00000221922.3 ENST00000221922.4 ENST00000221922.5 ENST00000221922.6 ENST00000221922.7 ENST00000221922.8 ENST00000221922.9 NM_015603 Q9Y3X0 uc010xym.1 uc010xym.2 uc010xym.3 uc010xym.4 RNA binding protein binding uc010xym.1 uc010xym.2 uc010xym.3 uc010xym.4 
ENST00000221930.6 TGFB1 ENST00000221930.6 Homo sapiens transforming growth factor beta 1 (TGFB1), mRNA. (from RefSeq NM_000660) A0A499FJK2 ENST00000221930.1 ENST00000221930.2 ENST00000221930.3 ENST00000221930.4 ENST00000221930.5 NM_000660 uc002oqh.1 uc002oqh.2 uc002oqh.3 uc002oqh.4 uc002oqh.5 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X02812.1, SRR3476690.819241.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA2142670 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221930.6/ ENSP00000221930.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## uc002oqh.1 uc002oqh.2 uc002oqh.3 uc002oqh.4 uc002oqh.5 
ENST00000221943.14 DMAC2 ENST00000221943.14 Homo sapiens distal membrane arm assembly complex 2 (DMAC2), transcript variant 15, non-coding RNA. (from RefSeq NR_135478) AT5SL_HUMAN ATP5SL B4DDC0 ENST00000221943.1 ENST00000221943.10 ENST00000221943.11 ENST00000221943.12 ENST00000221943.13 ENST00000221943.2 ENST00000221943.3 ENST00000221943.4 ENST00000221943.5 ENST00000221943.6 ENST00000221943.7 ENST00000221943.8 ENST00000221943.9 NR_135478 Q96D43 Q9NW81 uc002oqw.1 uc002oqw.2 uc002oqw.3 uc002oqw.4 Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NW81-1; Sequence=Displayed; Name=2; IsoId=Q9NW81-2; Sequence=VSP_031270, VSP_031271; Note=No experimental confirmation available; Name=3; IsoId=Q9NW81-3; Sequence=VSP_043807, VSP_031271; Belongs to the ATP synthase subunit s family. mitochondrion ubiquitin-dependent protein catabolic process protein ubiquitination SCF ubiquitin ligase complex SCF-dependent proteasomal ubiquitin-dependent protein catabolic process mitochondrial respiratory chain complex I assembly mitochondrial respiratory chain complex I ubiquitin-protein transferase activity uc002oqw.1 uc002oqw.2 uc002oqw.3 uc002oqw.4 
ENST00000221954.7 CEACAM4 ENST00000221954.7 Homo sapiens CEA cell adhesion molecule 4 (CEACAM4), transcript variant 1, mRNA. (from RefSeq NM_001817) CEAM4_HUMAN CGM7 ENST00000221954.1 ENST00000221954.2 ENST00000221954.3 ENST00000221954.4 ENST00000221954.5 ENST00000221954.6 NM_001817 O75871 Q03715 Q7LDZ7 uc002orh.1 uc002orh.2 Membrane; Single-pass type I membrane protein. Granulocytes. N-glycosylated. Belongs to the immunoglobulin superfamily. CEA family. Contains 1 Ig-like V-type (immunoglobulin-like) domain. integral component of plasma membrane phagocytosis membrane integral component of membrane uc002orh.1 uc002orh.2 
ENST00000221957.9 PLIN3 ENST00000221957.9 Homo sapiens perilipin 3 (PLIN3), transcript variant 1, mRNA. (from RefSeq NM_005817) A8K4Y9 ENST00000221957.1 ENST00000221957.2 ENST00000221957.3 ENST00000221957.4 ENST00000221957.5 ENST00000221957.6 ENST00000221957.7 ENST00000221957.8 M6PRBP1 NM_005817 O60664 PLIN3_HUMAN Q53G77 Q9BS03 Q9UBD7 Q9UP92 TIP47 uc002mbj.1 uc002mbj.2 uc002mbj.3 uc002mbj.4 Mannose 6-phophate receptors (MPRs) deliver lysosomal hydrolase from the Golgi to endosomes and then return to the Golgi complex. The protein encoded by this gene interacts with the cytoplasmic domains of both cation-independent and cation-dependent MPRs, and is required for endosome-to-Golgi transport. This protein also binds directly to the GTPase RAB9 (RAB9A), a member of the RAS oncogene family. The interaction with RAB9 has been shown to increase the affinity of this protein for its cargo. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2009]. Required for the transport of mannose 6-phosphate receptors (MPR) from endosomes to the trans-Golgi network. Homooligomer. Interacts with M6PR (via the cytoplasmic domain). Interacts with IGF2R (via the cytoplasmic domain). Isoform 2 may exist as a homodimer (known as PP17C). O94955:RHOBTB3; NbExp=1; IntAct=EBI-725795, EBI-2367123; Cytoplasm. Endosome membrane; Peripheral membrane protein; Cytoplasmic side (Potential). Lipid droplet (Potential). Note=Membrane associated on endosomes. Detected in the envelope and the core of lipid bodies and in lipid sails. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O60664-1; Sequence=Displayed; Note=PP17b; Name=2; IsoId=O60664-2; Sequence=VSP_004664; Note=PP17a; Name=3; IsoId=O60664-3; Sequence=VSP_040325; Belongs to the perilipin family. protein binding cytoplasm endosome Golgi apparatus lipid particle cytosol endosome membrane membrane vesicle-mediated transport transport vesicle cadherin binding uc002mbj.1 uc002mbj.2 uc002mbj.3 uc002mbj.4 
ENST00000221972.8 CD79A ENST00000221972.8 Homo sapiens CD79a molecule (CD79A), transcript variant 1, mRNA. (from RefSeq NM_001783) A0N775 CD79A_HUMAN ENST00000221972.1 ENST00000221972.2 ENST00000221972.3 ENST00000221972.4 ENST00000221972.5 ENST00000221972.6 ENST00000221972.7 IGA MB1 NM_001783 P11912 Q53FB8 uc002orv.1 uc002orv.2 uc002orv.3 uc002orv.4 The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-alpha protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. Required in cooperation with CD79B for initiation of the signal transduction cascade activated by binding of antigen to the B-cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking to late endosomes and antigen presentation. Also required for BCR surface expression and for efficient differentiation of pro- and pre-B-cells. Stimulates SYK autophosphorylation and activation. Binds to BLNK, bringing BLNK into proximity with SYK and allowing SYK to phosphorylate BLNK. Also interacts with and increases activity of some Src- family tyrosine kinases. Represses BCR signaling during development of immature B-cells. Heterodimer of alpha and beta chains; disulfide-linked. Part of the B-cell antigen receptor complex where the alpha/beta chain heterodimer is non-covalently associated with an antigen- specific membrane-bound surface immunoglobulin of two heavy chains and two light chains. Interacts through its phosphorylated ITAM domain with the SH2 domains of SYK which stimulates SYK autophosphorylation and activation. Also interacts, when phosphorylated on Tyr-210, with the SH2 domain of BLNK/SLP65, bringing BLNK into proximity with SYK and allowing SYK to phosphorylate BLNK which is necessary for trafficking of the BCR to late endosomes. Interacts with Src-family tyrosine kinases including FYN and LYN, increasing their activity (By similarity). Cell membrane; Single-pass type I membrane protein. Note=Following antigen binding, the BCR has been shown to translocate from detergent-soluble regions of the cell membrane to lipid rafts although signal transduction through the complex can also occur outside lipid rafts (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Long; IsoId=P11912-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P11912-2; Sequence=VSP_002476; B-cells. Phosphorylated on tyrosine, serine and threonine residues upon B-cell activation. Phosphorylation of tyrosine residues by Src-family kinases is an early and essential feature of the BCR signaling cascade. The phosphorylated tyrosines serve as docking sites for SH2-domain containing kinases, leading to their activation which in turn leads to phosphorylation of downstream targets. Phosphorylated by LYN. Phosphorylation of serine and threonine residues may prevent subsequent tyrosine phosphorylation. Arginine methylation in the ITAM domain may interfere with the binding of SYK. It promotes signals leading to B cell differentiation (By similarity). Defects in CD79A are the cause of agammaglobulinemia type 3 (AGM3) [MIM:613501]. It is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. Note=Two different mutations, one at the splice donor site of intron 2 and the other at the splice acceptor site for exon 3, have been identified. Both mutations give rise to a truncated protein. Contains 1 Ig-like C2-type (immunoglobulin-like) domain. Contains 1 ITAM domain. Name=CD79Abase; Note=CD79A mutation db; URL="http://bioinf.uta.fi/CD79Abase/"; adaptive immune response immune system process transmembrane signaling receptor activity protein binding multivesicular body plasma membrane cell surface receptor signaling pathway external side of plasma membrane membrane integral component of membrane B cell receptor complex B cell differentiation B cell proliferation B cell activation protein homodimerization activity membrane raft B cell receptor signaling pathway protein homotetramerization uc002orv.1 uc002orv.2 uc002orv.3 uc002orv.4 
ENST00000221978.10 NKG7 ENST00000221978.10 Homo sapiens natural killer cell granule protein 7 (NKG7), transcript variant 1, mRNA. (from RefSeq NM_005601) ENST00000221978.1 ENST00000221978.2 ENST00000221978.3 ENST00000221978.4 ENST00000221978.5 ENST00000221978.6 ENST00000221978.7 ENST00000221978.8 ENST00000221978.9 GIG1 NKG7_HUMAN NM_005601 Q16617 uc002pwj.1 uc002pwj.2 uc002pwj.3 uc002pwj.4 uc002pwj.5 Cell membrane; Multi-pass membrane protein. Cytoplasmic granule membrane; Multi-pass membrane protein. Note=Cytoplasmic granules of cytolytic T-lymphocytes, NK cells, and neutrophils. Expressed in activated T-cells, in kidney, liver, lung and pancreas. Not expressed in brain, heart, or skeletal muscle. Expressed at high levels in TCR gamma delta- expressing CTL clones, and in some TCR alpha beta-expressing CTL clones (both CD4+ and CD8+), but is not expressed in other TCR alpha beta-expressing CTL clones and in cell lines representing B- cells, monocytes, and myeloid cells. By CSF3/G-CSF. Belongs to the PMP-22/EMP/MP20 family. protein binding plasma membrane integral component of plasma membrane membrane integral component of membrane uc002pwj.1 uc002pwj.2 uc002pwj.3 uc002pwj.4 uc002pwj.5 
ENST00000221980.5 ICAM5 ENST00000221980.5 Homo sapiens intercellular adhesion molecule 5 (ICAM5), mRNA. (from RefSeq NM_003259) ENST00000221980.1 ENST00000221980.2 ENST00000221980.3 ENST00000221980.4 ICAM5_HUMAN NM_003259 Q9UMF0 Q9Y6F3 TLCN TLN uc002mnu.1 uc002mnu.2 uc002mnu.3 uc002mnu.4 uc002mnu.5 uc002mnu.6 The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is expressed on the surface of telencephalic neurons and displays two types of adhesion activity, homophilic binding between neurons and heterophilic binding between neurons and leukocytes. It may be a critical component in neuron-microglial cell interactions in the course of normal development or as part of neurodegenerative diseases. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC026338.1, U72671.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2154665, SAMN02400288 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221980.5/ ENSP00000221980.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). Membrane; Single-pass type I membrane protein. Expressed on neurons in the most rostral segment of the mammalian brain, the telencephalon. Glycosylation at Asn-54 is critical for functional folding (By similarity). Belongs to the immunoglobulin superfamily. ICAM family. Contains 9 Ig-like C2-type (immunoglobulin-like) domains. integrin binding protein binding plasma membrane integral component of plasma membrane phagocytosis cell adhesion membrane integral component of membrane extracellular matrix organization regulation of immune response cell-cell adhesion uc002mnu.1 uc002mnu.2 uc002mnu.3 uc002mnu.4 uc002mnu.5 uc002mnu.6 
ENST00000221992.11 CEACAM5 ENST00000221992.11 Homo sapiens CEA cell adhesion molecule 5 (CEACAM5), transcript variant 1, mRNA. (from RefSeq NM_004363) CEA CEAM5_HUMAN ENST00000221992.1 ENST00000221992.10 ENST00000221992.2 ENST00000221992.3 ENST00000221992.4 ENST00000221992.5 ENST00000221992.6 ENST00000221992.7 ENST00000221992.8 ENST00000221992.9 NM_004363 P06731 uc002orl.1 uc002orl.2 uc002orl.3 uc002orl.4 uc002orl.5 This gene encodes a cell surface glycoprotein that represents the founding member of the carcinoembryonic antigen (CEA) family of proteins. The encoded protein is used as a clinical biomarker for gastrointestinal cancers and may promote tumor development through its role as a cell adhesion molecule. Additionally, the encoded protein may regulate differentiation, apoptosis, and cell polarity. This gene is present in a CEA family gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]. Cell surface glycoprotein that plays a role in cell adhesion and in intracellular signaling. Receptor for E.coli Dr adhesins. Homodimer. Binding of E.coli Dr adhesins leads to dissociation of the homodimer. Cell membrane; Lipid-anchor, GPI-anchor. Found in adenocarcinomas of endodermally derived digestive system epithelium and fetal colon. Complex immunoreactive glycoprotein with a MW of 180 kDa comprising 60% carbohydrate. Belongs to the immunoglobulin superfamily. CEA family. Contains 7 Ig-like (immunoglobulin-like) domains. Sequence=AAA62835.1; Type=Frameshift; Positions=359, 361; extracellular region plasma membrane integral component of plasma membrane apoptotic process cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules cell surface negative regulation of myotube differentiation membrane basolateral plasma membrane apical plasma membrane anchored component of membrane homotypic cell-cell adhesion GPI anchor binding identical protein binding protein homodimerization activity negative regulation of apoptotic process leukocyte migration extracellular exosome integral component of external side of plasma membrane negative regulation of anoikis uc002orl.1 uc002orl.2 uc002orl.3 uc002orl.4 uc002orl.5 
ENST00000221996.12 CRX ENST00000221996.12 Homo sapiens cone-rod homeobox (CRX), mRNA. (from RefSeq NM_000554) CORD2 CRX_HUMAN ENST00000221996.1 ENST00000221996.10 ENST00000221996.11 ENST00000221996.2 ENST00000221996.3 ENST00000221996.4 ENST00000221996.5 ENST00000221996.6 ENST00000221996.7 ENST00000221996.8 ENST00000221996.9 NM_000554 O43186 uc002phq.1 uc002phq.2 uc002phq.3 uc002phq.4 uc002phq.5 uc002phq.6 The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BQ423938.1, BU187765.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221996.12/ ENSP00000221996.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several photoreceptor-specific genes, including the opsin genes. Acts synergistically with other transcription factors, e.g. NRL and RX, to regulate photoreceptor cell-specific gene transcription. Essential for the maintenance of mammalian photoreceptors. Interacts with SCA7 (By similarity). Interacts with RAX2. Interacts (via the homeobox) with NRL (via the leucine-zipper domain). Interacts with PDC. Nucleus (By similarity). Retina. Defects in CRX are the cause of Leber congenital amaurosis type 7 (LCA7) [MIM:613829]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. Defects in CRX are the cause of cone-rod dystrophy type 2 (CORD2) [MIM:120970]; also known as cone-rod retinal dystrophy 2 (CRD2). CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. Defects in CRX are a cause of retinitis pigmentosa (RP) [MIM:268000]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Belongs to the paired homeobox family. Contains 1 homeobox DNA-binding domain. Name=Mutations of the CRX gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/crxmut.htm"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CRX"; nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated multicellular organism development nervous system development visual perception circadian rhythm animal organ morphogenesis cell differentiation nuclear hormone receptor binding leucine zipper domain binding sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter positive regulation of photoreceptor cell differentiation response to stimulus uc002phq.1 uc002phq.2 uc002phq.3 uc002phq.4 uc002phq.5 uc002phq.6 
ENST00000222002.4 SULT2A1 ENST00000222002.4 Homo sapiens sulfotransferase family 2A member 1 (SULT2A1), mRNA. (from RefSeq NM_003167) ENST00000222002.1 ENST00000222002.2 ENST00000222002.3 HST NM_003167 Q06520 ST2A1_HUMAN STD uc002phr.1 uc002phr.2 uc002phr.3 This gene encodes a member of the sulfotransferase family. Sulfotransferases aid in the metabolism of drugs and endogenous compounds by converting these substances into more hydrophilic water-soluble sulfate conjugates that can be easily excreted. This protein catalyzes the sulfation of steroids and bile acids in the liver and adrenal glands, and may have a role in the inherited adrenal androgen excess in women with polycystic ovary syndrome. [provided by RefSeq, Mar 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC020755.1, SRR5189664.117161.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2155590, SAMN03267753 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222002.4/ ENSP00000222002.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfonation of steroids and bile acids in the liver and adrenal glands. 3'-phosphoadenylyl sulfate + glycolithocholate = adenosine 3',5'-bisphosphate + glycolithocholate 3-sulfate. 3'-phosphoadenylyl sulfate + taurolithocholate = adenosine 3',5'-bisphosphate + taurolithocholate sulfate. Homodimer. P40763:STAT3; NbExp=2; IntAct=EBI-3921363, EBI-518675; Cytoplasm. Liver, adrenal and at lower level in the kidney. Is present in human fetus in higher level in the adrenal than the liver and the kidney. The N-terminus is blocked. Estrogens present in maternal circulation is predominantly derived from fetal dehydroepiandosterone sulfate which is hydrolyzed and metabolized to estrogens in placenta. Belongs to the sulfotransferase 1 family. protein binding cytoplasm cytosol ethanol catabolic process lipid metabolic process sulfotransferase activity steroid metabolic process lipid catabolic process transferase activity regulation of lipid metabolic process bile acid catabolic process bile-salt sulfotransferase activity steroid sulfotransferase activity 3'-phosphoadenosine 5'-phosphosulfate metabolic process sulfation uc002phr.1 uc002phr.2 uc002phr.3 
ENST00000222005.7 CDC37 ENST00000222005.7 Homo sapiens cell division cycle 37, HSP90 cochaperone (CDC37), mRNA. (from RefSeq NM_007065) CDC37A CDC37_HUMAN ENST00000222005.1 ENST00000222005.2 ENST00000222005.3 ENST00000222005.4 ENST00000222005.5 ENST00000222005.6 NM_007065 Q16543 Q53YA2 uc002mof.1 uc002mof.2 uc002mof.3 The protein encoded by this gene is highly similar to Cdc 37, a cell division cycle control protein of Sacchromyces cerevisiae. This protein is a molecular chaperone with specific function in cell signal transduction. It has been shown to form complex with Hsp90 and a variety of protein kinases including CDK4, CDK6, SRC, RAF-1, MOK, as well as eIF2 alpha kinases. It is thought to play a critical role in directing Hsp90 to its target kinases. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1159146.1, SRR3476690.452014.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222005.7/ ENSP00000222005.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Co-chaperone that binds to numerous kinases and promotes their interaction with the Hsp90 complex, resulting in stabilization and promotion of their activity. Forms a complex with Hsp90/HSP90AB1 and CDK6. Interacts with AR, CDK4, CDK6, EIF2AK1 and RB1. P11500:- (xeno); NbExp=3; IntAct=EBI-295634, EBI-640126; P31749:AKT1; NbExp=2; IntAct=EBI-295634, EBI-296087; P02649:APOE; NbExp=3; IntAct=EBI-295634, EBI-1222467; P11802:CDK4; NbExp=5; IntAct=EBI-295634, EBI-295644; Q00534:CDK6; NbExp=2; IntAct=EBI-295634, EBI-295663; P33279:EIF2AK1 (xeno); NbExp=3; IntAct=EBI-295634, EBI-640100; O14879:IFIT3; NbExp=4; IntAct=EBI-295634, EBI-745127; P29474:NOS3; NbExp=4; IntAct=EBI-295634, EBI-1391623; P53041:PPP5C; NbExp=2; IntAct=EBI-295634, EBI-716663; P49768:PSEN1; NbExp=3; IntAct=EBI-295634, EBI-297277; Cytoplasm. Constitutively sumoylated by UBE2I. Belongs to the CDC37 family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cdc37/"; regulation of cyclin-dependent protein serine/threonine kinase activity protein binding cytoplasm cytosol protein folding protein targeting posttranscriptional regulation of gene expression protein kinase regulator activity kinase binding protein kinase binding heat shock protein binding ERBB2 signaling pathway regulation of protein kinase activity protein stabilization unfolded protein binding chaperone binding Hsp90 protein binding regulation of interferon-gamma-mediated signaling pathway regulation of type I interferon-mediated signaling pathway extracellular exosome scaffold protein binding mitophagy in response to mitochondrial depolarization HSP90-CDC37 chaperone complex uc002mof.1 uc002mof.2 uc002mof.3 
ENST00000222008.11 RABAC1 ENST00000222008.11 Homo sapiens Rab acceptor 1 (RABAC1), mRNA. (from RefSeq NM_006423) ENST00000222008.1 ENST00000222008.10 ENST00000222008.2 ENST00000222008.3 ENST00000222008.4 ENST00000222008.5 ENST00000222008.6 ENST00000222008.7 ENST00000222008.8 ENST00000222008.9 NM_006423 PRA1 PRAF1 PRAF1_HUMAN Q7Z4Y2 Q9UI14 Q9Y3R1 uc002osf.1 uc002osf.2 uc002osf.3 uc002osf.4 uc002osf.5 General Rab protein regulator required for vesicle formation from the Golgi complex. May control vesicle docking and fusion by mediating the action of Rab GTPases to the SNARE complexes. In addition it inhibits the removal of Rab GTPases from the membrane by GDI (By similarity). Homodimer. Interacts with VAMP2 (synaptobrevin-2), GDI1, and PCLO (By similarity). Interacts specifically with prenylated Rab proteins; strongly with RAB4B, RAB5A and RAB5C, and weakly with RAB4A, RAB6, RAB7A, RAB17 and RAB22. Interacts with NDRG1. Self; NbExp=4; IntAct=EBI-712367, EBI-712367; P51116:FXR2; NbExp=3; IntAct=EBI-712367, EBI-740459; Q9GZT8:NIF3L1; NbExp=3; IntAct=EBI-712367, EBI-740897; Q6ZVK8:NUDT18; NbExp=3; IntAct=EBI-712367, EBI-740486; Q9H8W4:PLEKHF2; NbExp=3; IntAct=EBI-712367, EBI-742388; Q14088:RAB33A; NbExp=3; IntAct=EBI-712367, EBI-744685; Q96C03:SMCR7; NbExp=3; IntAct=EBI-712367, EBI-750153; P37840:SNCA; NbExp=4; IntAct=EBI-712367, EBI-985879; Q96HA8:WDYHV1; NbExp=3; IntAct=EBI-712367, EBI-741158; Cell membrane; Multi-pass membrane protein (By similarity). Cytoplasm (By similarity). Golgi apparatus (By similarity). Cytoplasmic vesicle, secretory vesicle, synaptic vesicle (By similarity). Note=According to some authors, it is an integral membrane protein, while others showed that it is cytoplasmic and membrane-associated to Golgi and synaptic vesicles (By similarity). Ubiquitous. Strongest expression found in placenta, pituitary gland, kidney, lung and stomach. In fetal tissues, it is more abundant in kidney and lung. Belongs to the PRA1 family. In contrast to the mouse ortholog, it does not interact with Ras. protein binding cytoplasm Golgi apparatus plasma membrane synaptic vesicle protein C-terminus binding membrane integral component of membrane cell junction cytoplasmic vesicle identical protein binding synapse proline-rich region binding uc002osf.1 uc002osf.2 uc002osf.3 uc002osf.4 uc002osf.5 
ENST00000222032.10 CNFN ENST00000222032.10 Homo sapiens cornifelin (CNFN), mRNA. (from RefSeq NM_032488) B2R569 CNFN_HUMAN ENST00000222032.1 ENST00000222032.2 ENST00000222032.3 ENST00000222032.4 ENST00000222032.5 ENST00000222032.6 ENST00000222032.7 ENST00000222032.8 ENST00000222032.9 NM_032488 Q9BYD5 uc002otp.1 uc002otp.2 uc002otp.3 uc002otp.4 uc002otp.5 uc002otp.6 Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia. Directly or indirectly cross-linked to CE proteins loricin and involucrin (IVL). Cytoplasm. Note=Constituent of the scaffolding of the cornified envelope (By similarity). Abundant in the cervix. Moderately abundant in the uterus and fetal skin. Expression is markedly increased in psoriatic skin (18.5 fold increase in comparison with normal skin) and its overexpression alters the protein composition of cornified cell envelope (CE), but does not affect keratinocyte differentiation. Expressed in the granular cell layer of epidermis in uninvolved psoriatic skin and in the psoriatic lesions it is found in the upper-spinous layer. Increased expression also seen in atopic dermatitis (14.3 fold increase in comparison with normal skin) and mycosis fungoides (4.6 fold increase in comparison with normal skin) and in both conditions expressed in the granular cell layer of epidermis. Belongs to the cornifelin family. cornified envelope cytoplasm keratinization uc002otp.1 uc002otp.2 uc002otp.3 uc002otp.4 uc002otp.5 uc002otp.6 
ENST00000222033.6 ZNRF4 ENST00000222033.6 Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA. (from RefSeq NM_181710) A8K886 ENST00000222033.1 ENST00000222033.2 ENST00000222033.3 ENST00000222033.4 ENST00000222033.5 NM_181710 O75866 Q8WWF5 RNF204 ZNRF4_HUMAN uc002mca.1 uc002mca.2 uc002mca.3 uc002mca.4 uc002mca.5 uc002mca.6 Membrane; Single-pass type I membrane protein (Potential). Contains 1 PA (protease associated) domain. Contains 1 RING-type zinc finger. protein binding lysosomal membrane endoplasmic reticulum endoplasmic reticulum membrane ubiquitin-dependent protein catabolic process membrane integral component of membrane protein ubiquitination transferase activity metal ion binding ubiquitin protein ligase activity uc002mca.1 uc002mca.2 uc002mca.3 uc002mca.4 uc002mca.5 uc002mca.6 
ENST00000222122.10 DBP ENST00000222122.10 Homo sapiens D-box binding PAR bZIP transcription factor (DBP), mRNA. (from RefSeq NM_001352) A2I2P4 DBP_HUMAN ENST00000222122.1 ENST00000222122.2 ENST00000222122.3 ENST00000222122.4 ENST00000222122.5 ENST00000222122.6 ENST00000222122.7 ENST00000222122.8 ENST00000222122.9 NM_001352 Q10586 uc002pjx.1 uc002pjx.2 uc002pjx.3 uc002pjx.4 uc002pjx.5 uc002pjx.6 The protein encoded by this gene is a member of the PAR bZIP transcription factor family and binds to specific sequences in the promoters of several genes, such as albumin, CYP2A4, and CYP2A5. The encoded protein can bind DNA as a homo- or heterodimer and is involved in the regulation of some circadian rhythm genes. [provided by RefSeq, Jul 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7346977.333055.1, SRR7346977.851635.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222122.10/ ENSP00000222122.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## This transcriptional activator recognizes and binds to the sequence 5'-RTTAYGTAAY-3' found in the promoter of genes such as albumin, CYP2A4 and CYP2A5. It is not essential for circadian rhythm generation, but modulates important clock output genes. May be a direct target for regulation by the circadian pacemaker component clock. May affect circadian period and sleep regulation. Binds DNA as a homodimer or a heterodimer. Can form a heterodimer with TEF. Nucleus. Ubiquitously expressed. Expressed in the suprachiasmatic nuclei (SCN) and in most peripheral tissues, with a strong circadian rhythmicity. Belongs to the bZIP family. PAR subfamily. Contains 1 bZIP (basic-leucine zipper) domain. nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding liver development DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter circadian rhythm positive regulation of transcription from RNA polymerase II promoter rhythmic process uc002pjx.1 uc002pjx.2 uc002pjx.3 uc002pjx.4 uc002pjx.5 uc002pjx.6 
ENST00000222139.11 EPOR ENST00000222139.11 Homo sapiens erythropoietin receptor (EPOR), transcript variant 1, mRNA. (from RefSeq NM_000121) B2RCG4 ENST00000222139.1 ENST00000222139.10 ENST00000222139.2 ENST00000222139.3 ENST00000222139.4 ENST00000222139.5 ENST00000222139.6 ENST00000222139.7 ENST00000222139.8 ENST00000222139.9 EPOR_HUMAN NM_000121 P19235 Q15443 Q2M205 uc002mrj.1 uc002mrj.2 uc002mrj.3 uc002mrj.4 This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. Dysregulation of this gene may affect the growth of certain tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]. Receptor for erythropoietin. Mediates erythropoietin- induced erythroblast proliferation and differentiation. Upon EPO stimulation, EPOR dimerizes triggering the JAK2/STAT5 signaling cascade. In some cell types, can also activate STAT1 and STAT3. May also activate the LYN tyrosine kinase. Isoform EPOR-T acts as a dominant-negative receptor of EPOR-mediated signaling. Forms homodimers on EPO stimulation. The tyrosine- phosphorylated form interacts with several SH2 domain-containing proteins including LYN (By similarity), the adapter protein APS, PTPN6 (By similarity), PTPN11, JAK2, PI3 kinases, STAT5A/B, SOCS3, CRKL (By similarity). Interacts with INPP5D/SHIP1 (By similarity). The N-terminal SH2 domain of PTPN6 binds Tyr-454 and inhibits signaling through dephosphorylation of JAK2 (By similarity). APS binding also inhibits the JAK-STAT signaling. Binding to PTPN11, preferentially through the N-terminal SH2 domain, promotes mitogenesis and phosphorylation of PTPN11 (By similarity). Binding of JAK2 (through its N-terminal) promotes cell-surface expression (By similarity). Interaction with the ubiquitin ligase NOSIP mediates EPO-induced cell proliferation. Interacts with ATXN2L. Self; NbExp=2; IntAct=EBI-617321, EBI-617321; Q62225:Cish (xeno); NbExp=4; IntAct=EBI-617321, EBI-617489; P01588:EPO; NbExp=2; IntAct=EBI-617321, EBI-1027362; P16885:PLCG2; NbExp=3; IntAct=EBI-617321, EBI-617403; O14508:SOCS2; NbExp=3; IntAct=EBI-617321, EBI-617737; Cell membrane; Single-pass type I membrane protein. Isoform EPOR-S: Secreted. Note=Secreted and located to the cell surface. Event=Alternative splicing; Named isoforms=3; Name=EPOR-F; Synonyms=Full-length form; IsoId=P19235-1; Sequence=Displayed; Name=EPOR-S; Synonyms=Soluble form; IsoId=P19235-2; Sequence=VSP_009508, VSP_009509; Name=EPOR-T; Synonyms=Truncated form; IsoId=P19235-3; Sequence=VSP_009510, VSP_009511; Erythroid cells and erythroid progenitor cells. Isoform EPOR-F is the most abundant form in EPO-dependent erythroleukemia cells and in late-stage erythroid progenitors. Isoform EPOR-S and isoform EPOR-T are the predominant forms in bone marrow. Isoform EPOR-T is the most abundant from in early- stage erythroid progenitor cells. The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell- surface receptor binding. The box 1 motif is required for JAK interaction and/or activation. Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2- containing phosphatases. On EPO stimulation, phosphorylated on C-terminal tyrosine residues by JAK2. The phosphotyrosine motifs are also recruitment sites for several SH2-containing proteins and adapter proteins which mediate cell proliferation. Phosphorylation on Tyr-454 is required for PTPN6 interaction, Tyr-426 for PTPN11. Tyr-426 is also required for SOCS3 binding, but Tyr-454/Tyr-456 motif is the preferred binding site. Ubiquitination at Lys-281 mediates receptor internalization, whereas ubiquitination at Lys-453 promotes trafficking of activated receptors to the lysosomes for degradation (By similarity). Ubiquitinated by NOSIP; appears to be either multi- monoubiquitinated or polyubiquitinated. Ubiquitination mediates proliferation and survival of EPO-dependent cells. Defects in EPOR are the cause of familial erythrocytosis type 1 (ECYT1) [MIM:133100]. ECYT1 is an autosomal dominant disorder characterized by increased serum red blood cell mass, elevated hemoglobin and hematocrit, hypersensitivity of erythroid progenitors to erythropoietin, erythropoietin low serum levels, and no increase in platelets nor leukocytes. It has a relatively benign course and does not progress to leukemia. Belongs to the type I cytokine receptor family. Type 1 subfamily. Contains 1 fibronectin type-III domain. transmembrane signaling receptor activity cytokine receptor activity erythropoietin receptor activity protein binding extracellular region plasma membrane integral component of plasma membrane signal transduction brain development heart development positive regulation of phosphatidylinositol 3-kinase signaling membrane integral component of membrane cytokine-mediated signaling pathway erythropoietin-mediated signaling pathway identical protein binding positive regulation of Ras protein signal transduction decidualization uc002mrj.1 uc002mrj.2 uc002mrj.3 uc002mrj.4 
ENST00000222145.9 RASIP1 ENST00000222145.9 Homo sapiens Ras interacting protein 1 (RASIP1), mRNA. (from RefSeq NM_017805) ENST00000222145.1 ENST00000222145.2 ENST00000222145.3 ENST00000222145.4 ENST00000222145.5 ENST00000222145.6 ENST00000222145.7 ENST00000222145.8 NM_017805 Q5U651 Q6U676 RAIN_HUMAN uc002pki.1 uc002pki.2 uc002pki.3 uc002pki.4 uc002pki.5 Required for the proper formation of vascular structures that develop via both vasculogenesis and angiogenesis. Acts as a critical and vascular-specific regulator of GTPase signaling, cell architecture, and adhesion, which is essential for endothelial cell morphogenesis and blood vessel tubulogenesis. Regulates the activity of Rho GTPases in part by recruiting ARHGAP29 and suppressing RhoA signaling and dampening ROCK and MYH9 activities in endothelial cells (By similarity). May act as effector for Golgi-bound HRAS and other Ras-like proteins. May promote HRAS- mediated transformation. Negative regulator of amino acid starvation-induced autophagy. Interacts with Ras family members that have been activated by GTP binding. Interacts with HRAS, RAP1A, RAP2, RRAS, RAF1 and RRAS2. Interacts with MYH9 and ARHGAP29 (By similarity). Cytoplasm, perinuclear region. Golgi apparatus, Golgi stack. Note=Associated with perinuclear vesicles. Is recruited to Golgi stacks by activated HRAS. Highly expressed in heart. Detected at lower levels in placenta and pancreas. Contains 1 dilute domain. Contains 1 Ras-associating domain. angiogenesis vasculogenesis protein binding cytoplasm Golgi apparatus Golgi stack cell-cell junction signal transduction negative regulation of autophagy macromolecular complex positive regulation of integrin activation negative regulation of Rho protein signal transduction protein homodimerization activity regulation of GTPase activity perinuclear region of cytoplasm branching morphogenesis of an epithelial tube GTPase binding negative regulation of membrane permeability negative regulation of Rho-dependent protein serine/threonine kinase activity uc002pki.1 uc002pki.2 uc002pki.3 uc002pki.4 uc002pki.5 
ENST00000222214.10 GCDH ENST00000222214.10 Homo sapiens glutaryl-CoA dehydrogenase (GCDH), transcript variant 4, non-coding RNA. (from RefSeq NR_102317) A8K2Z2 ENST00000222214.1 ENST00000222214.2 ENST00000222214.3 ENST00000222214.4 ENST00000222214.5 ENST00000222214.6 ENST00000222214.7 ENST00000222214.8 ENST00000222214.9 GCDH_HUMAN NR_102317 O14719 Q92947 uc002mvq.1 uc002mvq.2 uc002mvq.3 uc002mvq.4 uc002mvq.5 uc002mvq.6 The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12. [provided by RefSeq, Mar 2013]. Catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. Isoform Short is inactive. Glutaryl-CoA + electron-transfer flavoprotein = (E)-but-2-enoyl-CoA + CO(2) + reduced electron-transfer flavoprotein. FAD. Amino-acid metabolism; lysine degradation. Amino-acid metabolism; tryptophan metabolism. Homotetramer. P62993:GRB2; NbExp=1; IntAct=EBI-1236978, EBI-401755; P29474:NOS3; NbExp=1; IntAct=EBI-1236978, EBI-1391623; P49768:PSEN1; NbExp=1; IntAct=EBI-1236978, EBI-297277; Mitochondrion matrix. Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=Q92947-1; Sequence=Displayed; Name=Short; IsoId=Q92947-2; Sequence=VSP_000145; Isoform 1 and isoform 2 are expressed in fibroblasts and liver. Defects in GCDH are the cause of glutaric aciduria type 1 (GA1) [MIM:231670]. GA1 is an autosomal recessive metabolic disorder characterized by progressive dystonia and athetosis due to gliosis and neuronal loss in the basal ganglia. Belongs to the acyl-CoA dehydrogenase family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GCDH"; fatty-acyl-CoA binding acyl-CoA dehydrogenase activity glutaryl-CoA dehydrogenase activity mitochondrion mitochondrial matrix lysine catabolic process tryptophan metabolic process acyl-CoA metabolic process oxidoreductase activity oxidoreductase activity, acting on the CH-CH group of donors fatty acid oxidation fatty acid beta-oxidation using acyl-CoA dehydrogenase glutaryl-CoA hydrolase activity fatty-acyl-CoA biosynthetic process flavin adenine dinucleotide binding oxidation-reduction process uc002mvq.1 uc002mvq.2 uc002mvq.3 uc002mvq.4 uc002mvq.5 uc002mvq.6 
ENST00000222219.8 DNASE2 ENST00000222219.8 Homo sapiens deoxyribonuclease 2, lysosomal (DNASE2), mRNA. (from RefSeq NM_001375) B2RD06 DNASE2A DNL2 DNS2A_HUMAN ENST00000222219.1 ENST00000222219.2 ENST00000222219.3 ENST00000222219.4 ENST00000222219.5 ENST00000222219.6 ENST00000222219.7 NM_001375 O00115 O43910 uc002mvn.1 uc002mvn.2 uc002mvn.3 This gene encodes a member of the DNase family. The protein, located in the lysosome, hydrolyzes DNA under acidic conditions and mediates the breakdown of DNA during erythropoiesis and apoptosis. Two codominant alleles have been characterized, DNASE2*L (low activity) and DNASE2*H (high activity), that differ at one nucleotide in the promoter region. The DNASE2*H allele is represented in this record. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803615.28874.1, SRR3476690.755593.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2151358 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222219.8/ ENSP00000222219.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Hydrolyzes DNA under acidic conditions with a preference for double-stranded DNA. Plays a major role in the degradation of nuclear DNA in cellular apoptosis during development. Necessary for proper fetal development and for definitive erythropoiesis in fetal liver, where it degrades nuclear DNA expelled from erythroid precursor cells. Endonucleolytic cleavage to nucleoside 3'- phosphates and 3'-phosphooligonucleotide end-products. Q9Y265:RUVBL1; NbExp=1; IntAct=EBI-1051412, EBI-353675; Q9Y230:RUVBL2; NbExp=1; IntAct=EBI-1051412, EBI-352939; Lysosome. Glycosylated. Mutations that eliminate N-glycosylation sites reduce activity, but enzymatic deglycosylation has no effect. Not required for the generation of the characteristic DNA fragmentation observed in apoptotic cells, but for the degradation of DNA from dying cells (By similarity). Belongs to the DNase II family. DNA catabolic process, endonucleolytic DNA binding nuclease activity endonuclease activity endodeoxyribonuclease activity deoxyribonuclease II activity lysosome DNA metabolic process DNA catabolic process apoptotic DNA fragmentation apoptotic process multicellular organism development hydrolase activity erythrocyte differentiation regulation of immune response extracellular exosome uc002mvn.1 uc002mvn.2 uc002mvn.3 
ENST00000222224.4 LENG1 ENST00000222224.4 Homo sapiens leukocyte receptor cluster member 1 (LENG1), mRNA. (from RefSeq NM_024316) ENST00000222224.1 ENST00000222224.2 ENST00000222224.3 LENG1_HUMAN NM_024316 Q96BZ8 Q9HCU7 uc002qdm.1 uc002qdm.2 uc002qdm.3 uc002qdm.4 uc002qdm.5 Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the leukocyte receptor cluster (LRC) present on 19q13.4. Sequence=AAG01393.1; Type=Erroneous initiation; molecular_function protein binding cellular_component biological_process uc002qdm.1 uc002qdm.2 uc002qdm.3 uc002qdm.4 uc002qdm.5 
ENST00000222247.10 RPL18A ENST00000222247.10 Homo sapiens ribosomal protein L18a (RPL18A), mRNA. (from RefSeq NM_000980) ENST00000222247.1 ENST00000222247.2 ENST00000222247.3 ENST00000222247.4 ENST00000222247.5 ENST00000222247.6 ENST00000222247.7 ENST00000222247.8 ENST00000222247.9 NM_000980 Q02543 RL18A_HUMAN uc002nhp.1 uc002nhp.2 uc002nhp.3 uc002nhp.4 uc002nhp.5 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18AE family of ribosomal proteins that is a component of the 60S subunit. The encoded protein may play a role in viral replication by interacting with the hepatitis C virus internal ribosome entry site (IRES). This gene is co-transcribed with the U68 snoRNA, located within the third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Jul 2012]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: CD174123.1, CD173034.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222247.10/ ENSP00000222247.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds IPO9 with high affinity. Q9NY93:DDX56; NbExp=1; IntAct=EBI-350523, EBI-372376; Q9NX58:LYAR; NbExp=1; IntAct=EBI-350523, EBI-713507; O43586:PSTPIP1; NbExp=1; IntAct=EBI-350523, EBI-1050964; O00442:RTCD1; NbExp=1; IntAct=EBI-350523, EBI-1045306; Belongs to the ribosomal protein L18Ae family. Sequence=CAA56788.1; Type=Frameshift; Positions=65; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic translation RNA binding structural constituent of ribosome protein binding cytosol ribosome translation translational initiation SRP-dependent cotranslational protein targeting to membrane membrane viral transcription cytosolic large ribosomal subunit polysomal ribosome uc002nhp.1 uc002nhp.2 uc002nhp.3 uc002nhp.4 uc002nhp.5 
ENST00000222248.4 SLC5A5 ENST00000222248.4 Homo sapiens solute carrier family 5 member 5 (SLC5A5), mRNA. (from RefSeq NM_000453) ENST00000222248.1 ENST00000222248.2 ENST00000222248.3 NIS NM_000453 O43702 Q2M335 Q92911 Q9NYB6 SC5A5_HUMAN uc002nhr.1 uc002nhr.2 uc002nhr.3 uc002nhr.4 uc002nhr.5 This gene encodes a member of the sodium glucose cotransporter family. The encoded protein is responsible for the uptake of iodine in tissues such as the thyroid and lactating breast tissue. The iodine taken up by the thyroid is incorporated into the metabolic regulators triiodothyronine (T3) and tetraiodothyronine (T4). Mutations in this gene are associated with thyroid dyshormonogenesis 1.[provided by RefSeq, Sep 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U66088.1, D87920.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMEA2142586 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222248.4/ ENSP00000222248.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Mediates iodide uptake in the thyroid gland. Membrane; Multi-pass membrane protein. Expression is primarily in thyroid tissue, but also to a lower extent in mammary gland and ovary. Expression is reduced in tumors. Defects in SLC5A5 are the cause of thyroid dyshormonogenesis 1 (TDH1) [MIM:274400]. A disorder characterized by the inability of the thyroid to maintain a concentration difference of readily exchangeable iodine between the plasma and the thyroid gland, leading to congenital hypothyroidism. Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC5A5"; nucleus plasma membrane thyroid hormone generation ion transport sodium ion transport sodium:iodide symporter activity iodide transmembrane transporter activity symporter activity iodide transport membrane integral component of membrane transmembrane transporter activity transmembrane transport extracellular exosome cellular response to cAMP cellular response to gonadotropin stimulus extracellular vesicle uc002nhr.1 uc002nhr.2 uc002nhr.3 uc002nhr.4 uc002nhr.5 
ENST00000222249.13 KCNN1 ENST00000222249.13 Homo sapiens potassium calcium-activated channel subfamily N member 1 (KCNN1), mRNA. (from RefSeq NM_002248) ENST00000222249.1 ENST00000222249.10 ENST00000222249.11 ENST00000222249.12 ENST00000222249.2 ENST00000222249.3 ENST00000222249.4 ENST00000222249.5 ENST00000222249.6 ENST00000222249.7 ENST00000222249.8 ENST00000222249.9 KCNN1_HUMAN NM_002248 Q5KR10 Q6DJU4 Q92952 SK uc002nht.1 uc002nht.2 uc002nht.3 uc002nht.4 Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. This gene is a member of the KCNN family of potassium channel genes. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U69883.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03465404 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Forms a voltage-independent potassium channel activated by intracellular calcium. Activation is followed by membrane hyperpolarization. Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization. The channel is blocked by apamin (By similarity). Heterooligomer. The complex is composed of 4 channel subunits each of which binds to a calmodulin subunit which regulates the channel activity through calcium-binding (By similarity). Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q92952-1; Sequence=Displayed; Name=2; IsoId=Q92952-2; Sequence=VSP_022501; Belongs to the potassium channel KCNN family. KCa2.1/KCNN1 subfamily. calmodulin binding plasma membrane ion transport potassium ion transport chemical synaptic transmission voltage-gated potassium channel complex calcium-activated potassium channel activity membrane integral component of membrane small conductance calcium-activated potassium channel activity neuron projection neuronal cell body dendritic spine protein heterodimerization activity potassium ion transmembrane transport uc002nht.1 uc002nht.2 uc002nht.3 uc002nht.4 
ENST00000222250.5 ARRDC2 ENST00000222250.5 Homo sapiens arrestin domain containing 2 (ARRDC2), transcript variant 1, mRNA. (from RefSeq NM_015683) ARRD2_HUMAN B2RBG9 ENST00000222250.1 ENST00000222250.2 ENST00000222250.3 ENST00000222250.4 NM_015683 O95895 PP2703 Q6ZRV9 Q8TBH0 Q8WYG6 uc002nhv.1 uc002nhv.2 uc002nhv.3 uc002nhv.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8TBH0-1; Sequence=Displayed; Name=2; IsoId=Q8TBH0-2; Sequence=VSP_019544; Belongs to the arrestin family. plasma membrane cytoplasmic vesicle uc002nhv.1 uc002nhv.2 uc002nhv.3 uc002nhv.4 
ENST00000222254.13 PIK3R2 ENST00000222254.13 Homo sapiens phosphoinositide-3-kinase regulatory subunit 2 (PIK3R2), transcript variant 2, non-coding RNA. (from RefSeq NR_073517) ENST00000222254.1 ENST00000222254.10 ENST00000222254.11 ENST00000222254.12 ENST00000222254.2 ENST00000222254.3 ENST00000222254.4 ENST00000222254.5 ENST00000222254.6 ENST00000222254.7 ENST00000222254.8 ENST00000222254.9 NR_073517 O00459 P85B_HUMAN Q5EAT5 Q9UPH9 uc002nia.1 uc002nia.2 uc002nia.3 uc002nia.4 Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Three transcript variants, one protein coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Apr 2019]. Binds to activated (phosphorylated) protein-tyrosine kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Heterodimer of a regulatory subunit PIK3R2 and a p110 catalytic subunit (PIK3CA, PIK3CB or PIK3CD). Interacts with AXL. Interacts with FLT1 (tyrosine-phosphorylated) and FLT4 (tyrosine- phosphorylated). Interacts with NYAP1, NYAP2 and MYO16. P62993:GRB2; NbExp=4; IntAct=EBI-346930, EBI-401755; P42338:PIK3CB; NbExp=3; IntAct=EBI-346930, EBI-2609540; Phosphorylated in response to signaling from activated receptor-type protein kinases. Dephosphorylated by PTPRJ. Belongs to the PI3K p85 subunit family. Contains 1 Rho-GAP domain. Contains 2 SH2 domains. Contains 1 SH3 domain. cellular glucose homeostasis phosphotyrosine binding protein binding nucleus cytosol phosphatidylinositol 3-kinase complex phosphatidylinositol biosynthetic process signal transduction insulin receptor signaling pathway regulation of autophagy phosphatidylinositol 3-kinase signaling protein transport protein phosphatase binding receptor tyrosine kinase binding cellular response to insulin stimulus response to endoplasmic reticulum stress Fc-epsilon receptor signaling pathway Fc-gamma receptor signaling pathway involved in phagocytosis positive regulation of protein import into nucleus negative regulation of MAPK cascade regulation of phosphatidylinositol 3-kinase activity positive regulation of transcription from RNA polymerase II promoter phosphatidylinositol phosphorylation 1-phosphatidylinositol-3-kinase regulator activity protein heterodimerization activity vascular endothelial growth factor receptor signaling pathway phosphatidylinositol-mediated signaling T cell receptor signaling pathway leukocyte migration regulation of small GTPase mediated signal transduction positive regulation of protein kinase B signaling uc002nia.1 uc002nia.2 uc002nia.3 uc002nia.4 
ENST00000222256.9 RAB3A ENST00000222256.9 Homo sapiens RAB3A, member RAS oncogene family (RAB3A), mRNA. (from RefSeq NM_002866) A8K0J4 ENST00000222256.1 ENST00000222256.2 ENST00000222256.3 ENST00000222256.4 ENST00000222256.5 ENST00000222256.6 ENST00000222256.7 ENST00000222256.8 NM_002866 P20336 Q9NYE1 RAB3A_HUMAN uc002nie.1 uc002nie.2 uc002nie.3 uc002nie.4 Involved in exocytosis by regulating a late step in synaptic vesicle fusion. Could play a role in neurotransmitter release by regulating membrane flow in the nerve terminal. Heterodimer with RIMS2. Part of a ternary complex involving PCLO and EPAC2. Interacts with RPH3A. Interacts with the exocyst complex through SEC15. Binds SYTL4, RIMS1 and RIMS2. Interacts with RAB3IP. Interacts with SGSM1 and SGSM3 (By similarity). Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Specifically expressed in brain. Belongs to the small GTPase superfamily. Rab family. nucleotide binding acrosomal vesicle ATPase activator activity plasma membrane repair respiratory system process GTPase activity protein binding GTP binding cytoplasm lysosome endosome cytosol plasma membrane intracellular protein transport exocytosis vesicle docking involved in exocytosis mitochondrion organization neurotransmitter secretion neuromuscular synaptic transmission axonogenesis synaptic vesicle protein C-terminus binding protein secretion post-embryonic development regulation of synaptic vesicle priming glutamate secretion protein transport membrane synaptic vesicle exocytosis synaptic vesicle maturation calcium ion regulated exocytosis regulation of exocytosis transport vesicle secretory granule lung development axon secretory granule membrane GTP-dependent protein binding cytoplasmic vesicle myosin V binding regulation of synaptic vesicle fusion to presynaptic membrane vesicle lysosome localization Rab protein signal transduction positive regulation of ATPase activity macromolecular complex synaptic vesicle recycling terminal bouton intracellular organelle neutrophil degranulation post-translational protein modification constitutive secretory pathway regulated exocytosis positive regulation of exocytosis regulation of short-term neuronal synaptic plasticity perinuclear region of cytoplasm synaptic vesicle transport presynaptic active zone maintenance of presynaptic active zone structure sensory perception of touch GDP-dissociation inhibitor binding ATPase binding response to electrical stimulus clathrin-sculpted acetylcholine transport vesicle membrane clathrin-sculpted glutamate transport vesicle membrane acrosomal vesicle exocytosis clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane evoked neurotransmitter secretion clathrin-sculpted monoamine transport vesicle membrane protein localization to plasma membrane synaptic vesicle clustering anchored component of synaptic vesicle membrane positive regulation of regulated secretory pathway extracellular vesicle regulation of plasma membrane repair regulation of synaptic vesicle exocytosis uc002nie.1 uc002nie.2 uc002nie.3 uc002nie.4 
ENST00000222271.7 COMP ENST00000222271.7 Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA. (from RefSeq NM_000095) COMP_HUMAN ENST00000222271.1 ENST00000222271.2 ENST00000222271.3 ENST00000222271.4 ENST00000222271.5 ENST00000222271.6 NM_000095 O14592 P49747 Q16388 Q16389 Q2NL86 Q8N4T2 uc002nke.1 uc002nke.2 uc002nke.3 uc002nke.4 uc002nke.5 The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Contraction or expansion of a 5 aa aspartate repeat and other mutations can cause pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq, Jul 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK223216.1, SRR1660809.75424.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2467144 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222271.7/ ENSP00000222271.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May play a role in the structural integrity of cartilage via its interaction with other extracellular matrix proteins such as the collagens and fibronectin. Can mediate the interaction of chondrocytes with the cartilage extracellular matrix through interaction with cell surface integrin receptors. Could play a role in the pathogenesis of osteoarthritis. Potent suppressor of apoptosis in both primary chondrocytes and transformed cells. Suppresses apoptosis by blocking the activation of caspase-3 and by inducing the IAP family of survival proteins (BIRC3, BIRC2, BIRC5 and XIAP). Essential for maintaining a vascular smooth muscle cells (VSMCs) contractile/differentiated phenotype under physiological and pathological stimuli. Maintains this phenotype of VSMCs by interacting with ITGA7 (By similarity). Binds 11-14 calcium ions per subunit. Pentamer; disulfide-linked. Exists in a more compact conformation in the presence of calcium and shows a more extended conformation in the absence of calcium. Interacts with ITGB3, ITGA5 and FN1. Binding to FN1 requires the presence of divalent cations (Ca(2+), Mg(2+) or Mn(2+)). The greatest amount of binding is seen in the presence of Mn(2+). Interacts with MATN1, MATN3, MATN4 and ACAN. Binds heparin, heparan sulfate and chondroitin sulfate. EDTA dimishes significantly its binding to ACAN and abolishes its binding to MATN3, MATN4 and chondroitin sulfate. Interacts with collagen I, II and IX, and interaction with these collagens is dependent on the presence of zinc ions. Interacts with ADAMTS12. Interacts with ITGA7 (By similarity). Secreted, extracellular space, extracellular matrix. Abundantly expressed in the chondrocyte extracellular matrix, and is also found in bone, tendon, ligament and synovium and blood vessels. Increased amounts are produced during late stages of osteoarthritis in the area adjacent to the main defect. Present during the earliest stages of limb maturation and is later found in regions where the joints develop. The cell attachment motif mediates the attachment to chondrocytes. It mediates the induction of both the IAP family of survival proteins and the antiapoptotic response. The TSP C-terminal domain mediates interaction with FN1 and ACAN. Each of the eight TSP type-3 repeats binds two calcium ions. The TSP C-terminal domain binds three calcium ions. Defects in COMP are the cause of multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]. EDM is a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and the milder Ribbing types. Defects in COMP are the cause of pseudoachondroplasia (PSACH) [MIM:177170]. PSAC is a dominantly inherited chondrodysplasia characterized by short stature and early-onset osteoarthrosis. PSACH is more severe than EDM1 and is recognized in early childhood. Belongs to the thrombospondin family. Contains 4 EGF-like domains. Contains 1 TSP C-terminal (TSPC) domain. Contains 8 TSP type-3 repeats. Sequence=AAB86501.1; Type=Erroneous gene model prediction; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COMP"; skeletal system development ossification protease binding chondrocyte development endochondral bone growth growth plate cartilage development integrin binding extracellular matrix structural constituent calcium ion binding protein binding collagen binding extracellular region extracellular space apoptotic process response to unfolded protein cell adhesion blood coagulation heparin binding protein secretion animal organ morphogenesis multicellular organism aging animal organ senescence regulation of gene expression vascular smooth muscle contraction protein processing extracellular matrix organization collagen fibril organization bone mineralization regulation of bone mineralization BMP signaling pathway extracellular matrix macromolecular complex multicellular organism growth chondrocyte proliferation tendon development BMP binding negative regulation of apoptotic process proteoglycan binding heparan sulfate proteoglycan binding skin development muscle fiber development artery morphogenesis musculoskeletal movement neuromuscular process cartilage development limb development bone morphogenesis extracellular exosome platelet aggregation vascular smooth muscle cell development bone growth negative regulation of hemostasis positive regulation of chondrocyte proliferation uc002nke.1 uc002nke.2 uc002nke.3 uc002nke.4 uc002nke.5 
ENST00000222275.3 UPK1A ENST00000222275.3 Homo sapiens uroplakin 1A (UPK1A), transcript variant 1, mRNA. (from RefSeq NM_007000) ENST00000222275.1 ENST00000222275.2 NM_007000 O00322 Q3KNU5 Q3KNU6 TSPAN21 UPK1A_HUMAN uc060xgs.1 uc060xgs.2 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The protein may also play a role in tumor suppression. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]. Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions (By similarity). Homodimer; disulfide-linked. Interacts with uroplakin-2 (UPK2) (By similarity). Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O00322-1; Sequence=Displayed; Name=2; IsoId=O00322-2; Sequence=VSP_030005; Note=No experimental confirmation available; High expression restricted to ureteric urothelium (most superficial cells); low expression in prostate. Expression in normal urothelial cells is lost in culture. Some expression in tumor cell lines derived from urothelial malignancies. Belongs to the tetraspanin (TM4SF) family. protein binding endoplasmic reticulum plasma membrane integral component of plasma membrane cell surface membrane integral component of membrane apical plasma membrane epithelial cell differentiation protein homodimerization activity protein oligomerization extracellular exosome uc060xgs.1 uc060xgs.2 
ENST00000222284.10 TMEM147 ENST00000222284.10 Homo sapiens transmembrane protein 147 (TMEM147), transcript variant 1, mRNA. (from RefSeq NM_032635) ENST00000222284.1 ENST00000222284.2 ENST00000222284.3 ENST00000222284.4 ENST00000222284.5 ENST00000222284.6 ENST00000222284.7 ENST00000222284.8 ENST00000222284.9 NM_032635 O75790 Q9BVK8 TM147_HUMAN uc002oaj.1 uc002oaj.2 uc002oaj.3 uc002oaj.4 Forms a complex with NCLN and NOMO2, resulting in a stabilization of the 3 proteins, which are otherwise quickly degraded by the proteasome. Due to the strong similarity between NOMO1, NOMO2 and NOMO3, probably also interacts with NOMO1 and NOMO3. Endoplasmic reticulum membrane; Multi-pass membrane protein. protein binding endoplasmic reticulum endoplasmic reticulum membrane membrane integral component of membrane macromolecular complex uc002oaj.1 uc002oaj.2 uc002oaj.3 uc002oaj.4 
ENST00000222286.9 GAPDHS ENST00000222286.9 Homo sapiens glyceraldehyde-3-phosphate dehydrogenase, spermatogenic (GAPDHS), mRNA. (from RefSeq NM_014364) B2RC82 ENST00000222286.1 ENST00000222286.2 ENST00000222286.3 ENST00000222286.4 ENST00000222286.5 ENST00000222286.6 ENST00000222286.7 ENST00000222286.8 G3PT_HUMAN GAPD2 GAPDH2 GAPDS HSD-35 HSD35 NM_014364 O14556 O60823 Q6JTT9 Q9HCU6 uc002oaf.1 uc002oaf.2 uc002oaf.3 This gene encodes a protein belonging to the glyceraldehyde-3-phosphate dehydrogenase family of enzymes that play an important role in carbohydrate metabolism. Like its somatic cell counterpart, this sperm-specific enzyme functions in a nicotinamide adenine dinucleotide-dependent manner to remove hydrogen and add phosphate to glyceraldehyde 3-phosphate to form 1,3-diphosphoglycerate. During spermiogenesis, this enzyme may play an important role in regulating the switch between different energy-producing pathways, and it is required for sperm motility and male fertility. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.262758.1, SRR5189667.118236.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222286.9/ ENSP00000222286.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May play an important role in regulating the switch between different pathways for energy production during spermiogenesis and in the spermatozoon. Required for sperm motility and male fertility (By similarity). D-glyceraldehyde 3-phosphate + phosphate + NAD(+) = 3-phospho-D-glyceroyl phosphate + NADH. Carbohydrate degradation; glycolysis; pyruvate from D- glyceraldehyde 3-phosphate: step 1/5. Homotetramer. Interacts with ARRB2; the interaction is detected in the nucleus upon OR1D2 stimulation. Cytoplasm (By similarity). Testis specific. The testis-specific N-terminal extension mediates tight association with the cytoskeletal fibrous sheath of the spermatozoa flagellum, possibly via interchain disulfide-bonding of Cys-21 with sheath components (PubMed:18298375). Belongs to the glyceraldehyde-3-phosphate dehydrogenase family. glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity protein binding nucleus cytoplasm cytosol glucose metabolic process gluconeogenesis glycolytic process oxidoreductase activity oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor flagellated sperm motility positive regulation of glycolytic process NADP binding NAD binding oxidation-reduction process canonical glycolysis uc002oaf.1 uc002oaf.2 uc002oaf.3 
ENST00000222305.8 USF2 ENST00000222305.8 Homo sapiens upstream transcription factor 2, c-fos interacting (USF2), transcript variant 1, mRNA. (from RefSeq NM_003367) BHLHB12 ENST00000222305.1 ENST00000222305.2 ENST00000222305.3 ENST00000222305.4 ENST00000222305.5 ENST00000222305.6 ENST00000222305.7 NM_003367 O00671 O00709 Q05750 Q07952 Q15851 Q15852 Q15853 Q6FI33 USF2_HUMAN uc002nyq.1 uc002nyq.2 uc002nyq.3 This gene encodes a member of the basic helix-loop-helix leucine zipper family of transcription factors. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs and is involved in regulating multiple cellular processes. [provided by RefSeq, Mar 2016]. Transcription factor that binds to a symmetrical DNA sequence (E-boxes) (5'-CACGTG-3') that is found in a variety of viral and cellular promoters. Interacts with MAF (By similarity). Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as an homodimer or a heterodimer (USF1/USF2). In vivo, the USF1/USF2A heterodimer represents over 66% of the usf binding activity whereas the USF1 and USF2A homodimers represent less than 10%. The USF1/USF2B heterodimer accounted for almost 15% in some cell. Nucleus. Event=Alternative splicing; Named isoforms=3; Comment=Additional isoforms seem to exist; Name=USF2A; IsoId=Q15853-1; Sequence=Displayed; Name=USF2A-delta-H; IsoId=Q15853-2; Sequence=VSP_002165; Name=USF2B; IsoId=Q15853-3; Sequence=VSP_002164; Ubiquitous. Contains 1 bHLH (basic helix-loop-helix) domain. regulation of transcription from RNA polymerase II promoter by glucose positive regulation of transcription from RNA polymerase II promoter by glucose nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter lactation late viral transcription protein homodimerization activity intracellular membrane-bounded organelle bHLH transcription factor binding sequence-specific DNA binding positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity protein dimerization activity lipid homeostasis uc002nyq.1 uc002nyq.2 uc002nyq.3 
ENST00000222329.9 ERF ENST00000222329.9 Homo sapiens ETS2 repressor factor (ERF), transcript variant 1, mRNA. (from RefSeq NM_006494) B2RAP1 ENST00000222329.1 ENST00000222329.2 ENST00000222329.3 ENST00000222329.4 ENST00000222329.5 ENST00000222329.6 ENST00000222329.7 ENST00000222329.8 ERF_HUMAN NM_006494 P50548 Q59G38 Q9UPI7 uc002ote.1 uc002ote.2 uc002ote.3 uc002ote.4 uc002ote.5 uc002ote.6 ETS2 is a transcription factor and protooncogene involved in development, apoptosis, and the regulation of telomerase. The protein encoded by this gene binds to the ETS2 promoter and is a strong repressor of ETS2 transcription. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]. Potent transcriptional repressor that binds to the H1 element of the Ets2 promoter. May regulate other genes involved in cellular proliferation. Required for extraembryonic ectoderm differentiation, ectoplacental cone cavity closure, and chorioallantoic attachment (By similarity). May be important for regulating trophoblast stem cell differentiation (By similarity). Nucleus. Highest levels in testis, ovary, pancreas, and heart. Phosphorylated by multiple kinases including MAPK1/ERK2 at THR-526. Phosphorylation regulates the activity of ERF. Belongs to the ETS family. Contains 1 ETS DNA-binding domain. Sequence=BAD92508.1; Type=Miscellaneous discrepancy; Note=The sequence differs from that shown because it seems to be derived from a pre-mRNA; negative regulation of transcription from RNA polymerase II promoter mitotic cell cycle nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding transcription corepressor activity nucleus nucleoplasm cytosol regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter cell differentiation sequence-specific DNA binding uc002ote.1 uc002ote.2 uc002ote.3 uc002ote.4 uc002ote.5 uc002ote.6 
ENST00000222330.8 GSK3A ENST00000222330.8 Homo sapiens glycogen synthase kinase 3 alpha (GSK3A), mRNA. (from RefSeq NM_019884) ENST00000222330.1 ENST00000222330.2 ENST00000222330.3 ENST00000222330.4 ENST00000222330.5 ENST00000222330.6 ENST00000222330.7 GSK3A_HUMAN NM_019884 O14959 P49840 uc002otb.1 uc002otb.2 uc002otb.3 This gene encodes a multifunctional Ser/Thr protein kinase that is implicated in the control of several regulatory proteins including glycogen synthase, and transcription factors, such as JUN. It also plays a role in the WNT and PI3K signaling pathways, as well as regulates the production of beta-amyloid peptides associated with Alzheimer's disease. [provided by RefSeq, Oct 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC027984.1, BC051865.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222330.8/ ENSP00000222330.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Constitutively active protein kinase that acts as a negative regulator in the hormonal control of glucose homeostasis, Wnt signaling and regulation of transctiption factors and microtubules, by phosphorylating and inactivating glycogen synthase (GYS1 or GYS2), CTNNB1/beta-catenin, APC and AXIN1. Requires primed phosphorylation of the majority of its substrates. Contributes to insulin regulation of glycogen synthesis by phosphorylating and inhibiting GYS1 activity and hence glycogen synthesis. Regulates glycogen metabolism in liver, but not in muscle. May also mediate the development of insulin resistance by regulating activation of transcription factors. In Wnt signaling, regulates the level and transcriptional activity of nuclear CTNNB1/beta-catenin. Facilitates amyloid precursor protein (APP) processing and the generation of APP-derived amyloid plaques found in Alzheimer disease. May be involved in the regulation of replication in pancreatic beta-cells. Is necessary for the establishment of neuronal polarity and axon outgrowth. ATP + [tau protein] = ADP + [tau protein] phosphate. ATP + a protein = ADP + a phosphoprotein. Activated by phosphorylation at Tyr-279. In response to insulin, inhibited by phosphorylation at Ser-21 by PKB/AKT1; phosphorylation at this site causes a conformational change, preventing access of substrates to the active site. Inhibited by lithium. Monomer. Interacts with ARRB2 (By similarity). Interacts with AXIN1 and CTNNB1/beta-catenin. O75398:DEAF1; NbExp=2; IntAct=EBI-1044067, EBI-718185; Phosphorylated by AKT1 at Ser-21: upon insulin-mediated signaling, the activated PKB/AKT1 protein kinase phosphorylates and desactivates GSK3A, resulting in the dephosphorylation and activation of GYS1. Activated by phosphorylation at Tyr-279. Higher expression and activity of GSK3A are found in the skeletal muscle (vastus lateralis) of patients with type 2 diabetes (PubMed:10868943). Several potent GSK3 (GSK3A and GSK3B) inhibitors have been identified and characterized in preclinical models for treatments of type 2 diabetes (PubMed:19366350). Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. GSK-3 subfamily. Contains 1 protein kinase domain. nucleotide binding regulation of systemic arterial blood pressure cardiac left ventricle morphogenesis protein kinase activity protein serine/threonine kinase activity receptor binding protein binding ATP binding nucleus mitochondrion cytosol carbohydrate metabolic process glycogen metabolic process protein phosphorylation signal transduction dopamine receptor signaling pathway nervous system development insulin receptor signaling pathway negative regulation of signal transduction positive regulation of autophagy positive regulation of gene expression negative regulation of UDP-glucose catabolic process Wnt signaling pathway kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation peptidyl-threonine phosphorylation protein kinase binding axon beta-catenin destruction complex positive regulation of protein ubiquitination negative regulation of TOR signaling positive regulation of proteasomal ubiquitin-dependent protein catabolic process cellular response to insulin stimulus protein kinase A catalytic subunit binding cellular response to interleukin-3 IRE1-mediated unfolded protein response neuronal cell body proteasome-mediated ubiquitin-dependent protein catabolic process negative regulation of glycogen biosynthetic process positive regulation of protein catabolic process positive regulation of heart contraction negative regulation of glucose import negative regulation of insulin receptor signaling pathway tau protein binding tau-protein kinase activity excitatory postsynaptic potential negative regulation of cell growth involved in cardiac muscle cell development regulation of microtubule cytoskeleton organization positive regulation of adrenergic receptor signaling pathway negative regulation of canonical Wnt signaling pathway extrinsic apoptotic signaling pathway extrinsic apoptotic signaling pathway in absence of ligand apical dendrite postsynapse positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway positive regulation of beta-amyloid formation regulation of mitophagy positive regulation of protein targeting to mitochondrion negative regulation of glycogen synthase activity, transferring glucose-1-phosphate proximal dendrite negative regulation of type B pancreatic cell development negative regulation of dendrite development negative regulation of glycogen (starch) synthase activity positive regulation of glycogen (starch) synthase activity uc002otb.1 uc002otb.2 uc002otb.3 
ENST00000222345.11 SIPA1L3 ENST00000222345.11 Homo sapiens signal induced proliferation associated 1 like 3 (SIPA1L3), mRNA. (from RefSeq NM_015073) ENST00000222345.1 ENST00000222345.10 ENST00000222345.2 ENST00000222345.3 ENST00000222345.4 ENST00000222345.5 ENST00000222345.6 ENST00000222345.7 ENST00000222345.8 ENST00000222345.9 KIAA0545 NM_015073 O60292 Q2TV87 SI1L3_HUMAN SPAL3 uc002ohk.1 uc002ohk.2 uc002ohk.3 uc002ohk.4 uc002ohk.5 This gene belongs to the signal induced proliferation associated 1 family of genes, which encode GTPase-activating proteins specific for the GTP-binding protein Rap1. Rap1 has been implicated in regulation of cell adhesion, cell polarity, and organization of the cytoskeleton. Like other members of the family, the protein encoded by this gene contains RapGAP and PDZ domains. In addition, this protein contains a C-terminal leucine zipper domain. This gene is proposed to function in epithelial cell morphogenesis and establishment or maintenance of polarity. Consistently, expression of the protein in cell culture showed localization to cell-cell borders in apical regions, and downregulation of the gene in 3D Caco2 cell culture resulted in abnormal cell polarity and morphogenesis. Allelic variants of this gene have been associated with congenital cataracts in humans. [provided by RefSeq, Feb 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: BC150620.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222345.11/ ENSP00000222345.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Contains 1 PDZ (DHR) domain. Contains 1 Rap-GAP domain. eye development stress fiber hematopoietic progenitor cell differentiation epithelial cell morphogenesis GTPase activator activity protein binding extracellular space plasma membrane cytoskeleton organization membrane apical plasma membrane positive regulation of GTPase activity apical part of cell regulation of small GTPase mediated signal transduction tricellular tight junction establishment of epithelial cell polarity uc002ohk.1 uc002ohk.2 uc002ohk.3 uc002ohk.4 uc002ohk.5 
ENST00000222374.3 CADM4 ENST00000222374.3 Homo sapiens cell adhesion molecule 4 (CADM4), mRNA. (from RefSeq NM_145296) B2R7L5 CADM4_HUMAN ENST00000222374.1 ENST00000222374.2 IGSF4C NECL4 NM_145296 Q8NFZ8 Q9Y4A4 TSLL2 uc002oxc.1 uc002oxc.2 uc002oxc.3 Involved in the cell-cell adhesion. Has calcium- and magnesium-independent cell-cell adhesion activity. May have tumor- suppressor activity. Monomer and homodimer. Membrane; Single-pass type I membrane protein (Potential). Expressed in brain, prostate, brain, kidney and some other organs. N-glycosylated (By similarity). Belongs to the nectin family. Contains 2 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 Ig-like V-type (immunoglobulin-like) domain. Sequence=AAC32740.1; Type=Erroneous gene model prediction; regulation of protein phosphorylation negative regulation of protein phosphorylation cell adhesion negative regulation of peptidyl-threonine phosphorylation membrane integral component of membrane protein phosphatase binding negative regulation of vascular endothelial growth factor receptor signaling pathway receptor tyrosine kinase binding cell leading edge regulation of Rac protein signal transduction regulation of cell proliferation vascular endothelial growth factor receptor 1 binding vascular endothelial growth factor receptor 2 binding cell-cell contact zone negative regulation of peptidyl-tyrosine phosphorylation regulation of wound healing negative regulation of vascular endothelial growth factor signaling pathway regulation of cell motility uc002oxc.1 uc002oxc.2 uc002oxc.3 
ENST00000222381.8 PON1 ENST00000222381.8 Homo sapiens paraoxonase 1 (PON1), mRNA. (from RefSeq NM_000446) B2RA40 ENST00000222381.1 ENST00000222381.2 ENST00000222381.3 ENST00000222381.4 ENST00000222381.5 ENST00000222381.6 ENST00000222381.7 NM_000446 P27169 PON PON1_HUMAN Q16052 Q6B0J6 Q9UCB1 uc003uns.1 uc003uns.2 uc003uns.3 uc003uns.4 uc003uns.5 This gene encodes a member of the paraoxonase family of enzymes and exhibits lactonase and ester hydrolase activity. Following synthesis in the kidney and liver, the enzyme is secreted into the circulation, where it binds to high density lipoprotein (HDL) particles and hydrolyzes thiolactones and xenobiotics, including paraoxon, a metabolite of the insecticide parathion. Polymorphisms in this gene may be associated with coronary artery disease and diabetic retinopathy. The gene is found in a cluster of three related paraoxonase genes on chromosome 7. [provided by RefSeq, Aug 2017]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: D84371.1, U53784.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968540, SAMEA1968832 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222381.8/ ENSP00000222381.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Hydrolyzes the toxic metabolites of a variety of organophosphorus insecticides. Capable of hydrolyzing a broad spectrum of organophosphate substrates and lactones, and a number of aromatic carboxylic acid esters. Mediates an enzymatic protection of low density lipoproteins against oxidative modification and the consequent series of events leading to atheroma formation. A phenyl acetate + H(2)O = a phenol + acetate. An aryl dialkyl phosphate + H(2)O = dialkyl phosphate + an aryl alcohol. An N-acyl-L-homoserine lactone + H(2)O = an N- acyl-L-homoserine. Binds 2 calcium ions per subunit. Homodimer. Heterooligomer with phosphate-binding protein (HPBP). Interacts with CLU. Secreted, extracellular space. Plasma, associated with HDL (at protein level). Expressed in liver, but not in heart, brain, placenta, lung, skeletal muscle, kidney or pancreas. Glycosylated. The signal sequence is not cleaved. Present in two forms, form B contains a disulfide bond, form A does not. The allelic form of the enzyme with Gln-192 (allozyme A) hydrolyzes paraoxon with a low turnover number and the one with Arg-192 (allozyme B) with a high turnover number. Genetic variation in PON1 is associated with susceptibility to microvascular complications of diabetes type 5 (MVCD5) [MIM:612633]. These are pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new- onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. Note=Homozygosity for the Leu-55 allele is strongly associated with the development of retinal disease in diabetic patients. The preferential association of PON1 with HDL is mediated in part by its signal peptide, by binding phospholipids directly, rather than binding apo AI. The retained signal peptide may allow transfer of the protein between phospholipid surfaces. Belongs to the paraoxonase family. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/pon1/"; Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=PON1"; aryldialkylphosphatase activity arylesterase activity calcium ion binding phospholipid binding extracellular region extracellular space lipid metabolic process cholesterol metabolic process response to toxic substance positive regulation of cholesterol efflux dephosphorylation hydrolase activity lipoxygenase pathway aromatic compound catabolic process response to nutrient levels positive regulation of transporter activity high-density lipoprotein particle spherical high-density lipoprotein particle protein homodimerization activity intracellular membrane-bounded organelle carboxylic acid catabolic process organophosphate catabolic process phosphatidylcholine metabolic process metal ion binding positive regulation of binding extracellular exosome response to fatty acid blood microparticle acyl-L-homoserine-lactone lactonohydrolase activity response to fluoride negative regulation of plasma lipoprotein particle oxidation uc003uns.1 uc003uns.2 uc003uns.3 uc003uns.4 uc003uns.5 
ENST00000222382.5 CYP3A43 ENST00000222382.5 Homo sapiens cytochrome P450 family 3 subfamily A member 43 (CYP3A43), transcript variant 1, mRNA. (from RefSeq NM_022820) CP343_HUMAN ENST00000222382.1 ENST00000222382.2 ENST00000222382.3 ENST00000222382.4 NM_022820 Q75MK2 Q9HB52 Q9HB53 Q9HB54 Q9HB55 Q9HB57 uc003ury.1 uc003ury.2 uc003ury.3 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein has a low level of testosterone hydroxylase activity, and may play a role in aging mechanisms and cancer progression. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. Exhibits low testosterone 6-beta-hydroxylase activity. RH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + H(2)O. Heme group (By similarity). Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein. Event=Alternative splicing; Named isoforms=4; Comment=Additional isoforms seem to exist; Name=1; IsoId=Q9HB55-1; Sequence=Displayed; Name=2; IsoId=Q9HB55-2; Sequence=VSP_000609; Name=3; IsoId=Q9HB55-3; Sequence=VSP_000610, VSP_000611; Name=4; IsoId=Q9HB55-4; Sequence=VSP_000612, VSP_000613; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Highest expression level in prostate. Also expressed in liver, kidney, pancreas, fetal liver and fetal skeletal muscle. By rifampicin. At protein level, three alleles are known: CYP3A43*1, CYP3A43*2 and CYP3A43*3. The sequence shown is that of CYP3A43*1, which is the most frequent allele. The allele CYP3A43*2 is likely to be non-functional. Chimeric transcripts, characterized by CYP3A43 exon 1 joined at canonical splice sites to distinct sets of CYP3A4 or CYP3A5 exons, have been detected. All are possibly produced by trans-splicing. CYP3A43-CYP3A4 chimeric transcripts exist in 3 different combinations: CYP3A43 exon 1 joined in frame to CYP3A4 exons 2-13, CYP3A43 exon 1 joined in frame to CYP3A4 exons 4-13 and CYP3A43 exon 1 joined in frame to CYP3A4 exon 7-13. The longest chimeric isoform (CYP3A43 exon 1 joined to CYP3A4 exons 2- 13) exhibits 6-beta-hydroxylase activity, while a shorter isoform (CYP3A43 exon 1 joined to CYP3A4 exons 4-13) does not. CYP3A43- CYP3A5 chimeric transcripts exist in 2 different combinations: CYP3A43 exon 1 joined in frame to CYP3A5 exon 11-13 and CYP3A43 exon 1 joined in frame to CYP3A5 exon 12-13. All chimeric transcripts are expressed at very low levels in the liver (PubMed:11726664). Belongs to the cytochrome P450 family. Name=Cytochrome P450 Allele Nomenclature Committee; Note=CYP3A43 alleles; URL="http://www.cypalleles.ki.se/cyp3a43.htm"; monooxygenase activity iron ion binding endoplasmic reticulum endoplasmic reticulum membrane steroid metabolic process steroid hydroxylase activity membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen heme binding organelle membrane intracellular membrane-bounded organelle metal ion binding testosterone 6-beta-hydroxylase activity oxidation-reduction process aromatase activity oxidative demethylation estrogen 16-alpha-hydroxylase activity uc003ury.1 uc003ury.2 uc003ury.3 
ENST00000222388.6 ABCF2-H2BK1 ENST00000222388.6 Homo sapiens ABCF2-H2BE1 readthrough (ABCF2-H2BE1), transcript variant 2, non-coding RNA. (from RefSeq NR_160983) A0A090N7Y2 ENST00000222388.1 ENST00000222388.2 ENST00000222388.3 ENST00000222388.4 ENST00000222388.5 NR_160983 uc003wjo.1 uc003wjo.2 uc003wjo.3 This gene represents readthrough transcription between ABCF2 and a downstream histone H2B-like gene. [provided by RefSeq, Mar 2019]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. ##RefSeq-Attributes-START## readthrough transcript :: includes exons from GeneID 10061, 114483833 ##RefSeq-Attributes-END## uc003wjo.1 uc003wjo.2 uc003wjo.3 
ENST00000222390.11 HGF ENST00000222390.11 Homo sapiens hepatocyte growth factor (HGF), transcript variant 1, mRNA. (from RefSeq NM_000601) A1L3U6 ENST00000222390.1 ENST00000222390.10 ENST00000222390.2 ENST00000222390.3 ENST00000222390.4 ENST00000222390.5 ENST00000222390.6 ENST00000222390.7 ENST00000222390.8 ENST00000222390.9 HGF_HUMAN HPTA NM_000601 P14210 Q02935 Q13494 Q14519 Q3KRB2 Q8TCE2 Q9BYL9 Q9BYM0 Q9UDU6 uc285zri.1 uc285zri.2 This gene encodes a protein that binds to the hepatocyte growth factor receptor to regulate cell growth, cell motility and morphogenesis in numerous cell and tissue types. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate alpha and beta chains, which form the mature heterodimer. This protein is secreted by mesenchymal cells and acts as a multi-functional cytokine on cells of mainly epithelial origin. This protein also plays a role in angiogenesis, tumorogenesis, and tissue regeneration. Although the encoded protein is a member of the peptidase S1 family of serine proteases, it lacks peptidase activity. Mutations in this gene are associated with nonsyndromic hearing loss. [provided by RefSeq, Nov 2015]. HGF is a potent mitogen for mature parenchymal hepatocyte cells, seems to be an hepatotrophic factor, and acts as growth factor for a broad spectrum of tissues and cell types. It has no detectable protease activity. Activating ligand for the receptor tyrosine kinase MET by binding and promoting its dimerization. Dimer of an alpha chain and a beta chain linked by a disulfide bond. P08581:MET; NbExp=2; IntAct=EBI-1039104, EBI-1039152; P16056:Met (xeno); NbExp=2; IntAct=EBI-1039104, EBI-1798780; Event=Alternative splicing; Named isoforms=6; Name=1; IsoId=P14210-1; Sequence=Displayed; Name=2; IsoId=P14210-2; Sequence=VSP_009622, VSP_009623; Name=3; IsoId=P14210-3; Sequence=VSP_009617; Name=4; Synonyms=HGF/NK2; IsoId=P14210-4; Sequence=VSP_009620, VSP_009621; Note=Acts as a competitive antagonist in MET-signaling; Name=5; IsoId=P14210-5; Sequence=VSP_009617, VSP_009622, VSP_009623; Note=No experimental confirmation available; Name=6; Synonyms=HGF/NK1; IsoId=P14210-6; Sequence=VSP_009618, VSP_009619; Defects in HGF are the cause of deafness autosomal recessive type 39 (DFNB39) [MIM:608265]. A form of profound prelingual sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Belongs to the peptidase S1 family. Plasminogen subfamily. Contains 4 kringle domains. Contains 1 PAN domain. Contains 1 peptidase S1 domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/hgf/"; Name=Wikipedia; Note=Hepatocyte growth factor entry; URL="http://en.wikipedia.org/wiki/Hepatocyte_growth_factor"; MAPK cascade activation of MAPK activity mitotic cell cycle cell morphogenesis epithelial to mesenchymal transition liver development positive regulation of protein phosphorylation platelet degranulation serine-type endopeptidase activity protein binding extracellular region extracellular space proteolysis growth factor activity negative regulation of autophagy positive regulation of phosphatidylinositol 3-kinase signaling membrane cytokine-mediated signaling pathway hyaluronan metabolic process positive regulation of cell migration platelet alpha granule lumen animal organ regeneration positive regulation of myelination negative regulation of interleukin-6 production positive regulation of interleukin-10 production negative regulation of peptidyl-serine phosphorylation cellular response to hepatocyte growth factor stimulus chemoattractant activity identical protein binding negative regulation of apoptotic process negative regulation of cysteine-type endopeptidase activity involved in apoptotic process positive regulation of osteoblast differentiation positive regulation of angiogenesis positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity hepatocyte growth factor receptor signaling pathway epithelial cell proliferation negative regulation of inflammatory response positive regulation of peptidyl-tyrosine phosphorylation positive chemotaxis myoblast proliferation positive regulation of protein kinase B signaling cell chemotaxis regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling positive regulation of neuron projection regeneration negative regulation of release of cytochrome c from mitochondria regulation of p38MAPK cascade negative regulation of hydrogen peroxide-mediated programmed cell death negative regulation of extrinsic apoptotic signaling pathway via death domain receptors regulation of tau-protein kinase activity positive regulation of DNA biosynthetic process uc285zri.1 uc285zri.2 
ENST00000222399.11 LAMB1 ENST00000222399.11 Homo sapiens laminin subunit beta 1 (LAMB1), mRNA. (from RefSeq NM_002291) ENST00000222399.1 ENST00000222399.10 ENST00000222399.2 ENST00000222399.3 ENST00000222399.4 ENST00000222399.5 ENST00000222399.6 ENST00000222399.7 ENST00000222399.8 ENST00000222399.9 LAMB1_HUMAN NM_002291 P07942 Q14D91 uc003vew.1 uc003vew.2 uc003vew.3 uc003vew.4 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 1. The beta 1 chain has 7 structurally distinct domains which it shares with other beta chain isomers. The C-terminal helical region containing domains I and II are separated by domain alpha, domains III and V contain several EGF-like repeats, and domains IV and VI have a globular conformation. Laminin, beta 1 is expressed in most tissues that produce basement membranes, and is one of the 3 chains constituting laminin 1, the first laminin isolated from Engelbreth-Holm-Swarm (EHS) tumor. A sequence in the beta 1 chain that is involved in cell attachment, chemotaxis, and binding to the laminin receptor was identified and shown to have the capacity to inhibit metastasis. [provided by RefSeq, Aug 2011]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by published experimental evidence. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660803.8226.1, SRR1803611.79860.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222399.11/ ENSP00000222399.6 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Beta-1 is a subunit of laminin-1 (laminin-111 or EHS laminin), laminin-2 (laminin-211 or merosin), laminin-6 (laminin- 311 or K-laminin), laminin-8 (laminin-411), laminin-10 (laminin- 511) and laminin-12 (laminin-213). Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component. The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure. Domains VI and IV are globular. Contains 13 laminin EGF-like domains. Contains 1 laminin IV type B domain. Contains 1 laminin N-terminal domain. integrin binding structural molecule activity extracellular matrix structural constituent protein binding extracellular region basement membrane laminin-1 complex laminin-2 complex extracellular space endoplasmic reticulum lumen cell adhesion animal organ morphogenesis tissue development cell migration neuronal-glial interaction involved in cerebral cortex radial glia guided migration extracellular matrix organization positive regulation of cell migration neuron projection development substrate adhesion-dependent cell spreading endodermal cell differentiation odontogenesis laminin complex laminin-8 complex laminin-10 complex post-translational protein modification cellular protein metabolic process perinuclear region of cytoplasm positive regulation of epithelial cell proliferation extracellular exosome basement membrane assembly uc003vew.1 uc003vew.2 uc003vew.3 uc003vew.4 
ENST00000222402.8 UBE2D4 ENST00000222402.8 Homo sapiens ubiquitin conjugating enzyme E2 D4 (putative) (UBE2D4), mRNA. (from RefSeq NM_015983) A4D1V0 ENST00000222402.1 ENST00000222402.2 ENST00000222402.3 ENST00000222402.4 ENST00000222402.5 ENST00000222402.6 ENST00000222402.7 NM_015983 Q9Y2X8 UB2D4_HUMAN UBCH5D uc003tja.1 uc003tja.2 uc003tja.3 uc003tja.4 Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro able to promote polyubiquitination using all 7 ubiquitin Lys residues, but may prefer 'Lys-11' and 'Lys-48'-linked polyubiquitination. ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine. Protein modification; protein ubiquitination. Q86UW9:DTX2; NbExp=3; IntAct=EBI-745527, EBI-740376; Q9BV68:RNF126; NbExp=3; IntAct=EBI-745527, EBI-357322; Q8ND25:ZNRF1; NbExp=3; IntAct=EBI-745527, EBI-2129250; Belongs to the ubiquitin-conjugating enzyme family. ubiquitin ligase complex nucleotide binding ubiquitin-protein transferase activity protein binding ATP binding ubiquitin-dependent protein catabolic process protein ubiquitination transferase activity ubiquitin protein ligase binding protein K29-linked ubiquitination protein K27-linked ubiquitination ubiquitin conjugating enzyme activity protein K63-linked ubiquitination protein K48-linked ubiquitination protein K11-linked ubiquitination protein K6-linked ubiquitination uc003tja.1 uc003tja.2 uc003tja.3 uc003tja.4 
ENST00000222462.3 WNT16 ENST00000222462.3 Homo sapiens Wnt family member 16 (WNT16), transcript variant 1, mRNA. (from RefSeq NM_057168) ENST00000222462.1 ENST00000222462.2 NM_057168 Q2M3G1 Q9UBV4 Q9Y5C0 WNT16_HUMAN uc003vjw.1 uc003vjw.2 uc003vjw.3 uc003vjw.4 uc003vjw.5 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It contains two transcript variants diverging at the 5' termini. These two variants are proposed to be the products of separate promoters and not to be splice variants from a single promoter. They are differentially expressed in normal tissues, one of which (variant 2) is expressed at significant levels only in the pancreas, whereas another one (variant 1) is expressed more ubiquitously with highest levels in adult kidney, placenta, brain, heart, and spleen. [provided by RefSeq, Jul 2008]. Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters (By similarity). Secreted, extracellular space, extracellular matrix. Event=Alternative splicing; Named isoforms=2; Name=Wnt-16b; IsoId=Q9UBV4-1; Sequence=Displayed; Name=Wnt-16a; IsoId=Q9UBV4-2; Sequence=VSP_006797; Isoform Wnt-16b is expressed in peripheral lymphoid organs such as spleen, appendix, and lymph nodes, in kidney but not in bone marrow. Isoform Wnt-16a is expressed at significant levels only in the pancreas. Palmitoylation at Ser-227 is required for efficient binding to frizzled receptors. It is also required for subsequent palmitoylation at Cys-81. Palmitoylation is necessary for proper trafficking to cell surface (By similarity). Belongs to the Wnt family. optic cup formation involved in camera-type eye development receptor binding frizzled binding extracellular region extracellular space cytoplasm multicellular organism development positive regulation of gene expression positive regulation of phosphatidylinositol 3-kinase signaling Wnt signaling pathway neuron differentiation keratinocyte differentiation keratinocyte proliferation cell fate commitment positive regulation of JNK cascade bone remodeling cardiac epithelial to mesenchymal transition negative regulation of cell death replicative senescence oxidative stress-induced premature senescence uc003vjw.1 uc003vjw.2 uc003vjw.3 uc003vjw.4 uc003vjw.5 
ENST00000222481.9 CPA2 ENST00000222481.9 Homo sapiens carboxypeptidase A2 (CPA2), mRNA. (from RefSeq NM_001869) A4D1M4 C9JIK1 CBPA2_HUMAN ENST00000222481.1 ENST00000222481.2 ENST00000222481.3 ENST00000222481.4 ENST00000222481.5 ENST00000222481.6 ENST00000222481.7 ENST00000222481.8 NM_001869 P48052 Q53XS1 Q96A12 Q96QN3 Q9UCF1 uc003vpq.1 uc003vpq.2 uc003vpq.3 uc003vpq.4 uc003vpq.5 Three different forms of human pancreatic procarboxypeptidase A have been isolated. The encoded protein represents the A2 form, which is a monomeric protein with different biochemical properties from the A1 and A3 forms. The A2 form of pancreatic procarboxypeptidase acts on aromatic C-terminal residues and is a secreted protein. [provided by RefSeq, Dec 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC007009.1, BC014571.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222481.9/ ENSP00000222481.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Similar to that of carboxypeptidase A (EC 3.4.17.1), but with a preference for bulkier C-terminal residues. Binds 1 zinc ion per subunit. Secreted. Belongs to the peptidase M14 family. Sequence=AAA74425.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH07009.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH14571.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH15140.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=EAL24092.1; Type=Erroneous gene model prediction; carboxypeptidase activity metallocarboxypeptidase activity extracellular region extracellular space vacuole proteolysis protein catabolic process in the vacuole peptidase activity metallopeptidase activity zinc ion binding hydrolase activity metal ion binding uc003vpq.1 uc003vpq.2 uc003vpq.3 uc003vpq.4 uc003vpq.5 
ENST00000222482.10 CPA4 ENST00000222482.10 Homo sapiens carboxypeptidase A4 (CPA4), transcript variant 1, mRNA. (from RefSeq NM_016352) B7Z576 CBPA4_HUMAN CPA3 ENST00000222482.1 ENST00000222482.2 ENST00000222482.3 ENST00000222482.4 ENST00000222482.5 ENST00000222482.6 ENST00000222482.7 ENST00000222482.8 ENST00000222482.9 NM_016352 Q86UY9 Q9UI42 UNQ694/PRO1339 uc285zyb.1 uc285zyb.2 This gene is a member of the carboxypeptidase A/B subfamily, and it is located in a cluster with three other family members on chromosome 7. Carboxypeptidases are zinc-containing exopeptidases that catalyze the release of carboxy-terminal amino acids, and are synthesized as zymogens that are activated by proteolytic cleavage. This gene could be involved in the histone hyperacetylation pathway. It is imprinted and may be a strong candidate gene for prostate cancer aggressiveness. [provided by RefSeq, Jul 2008]. Metalloprotease that could be involved in the histone hyperacetylation pathway. Binds 1 zinc ion per subunit. Interacts with LXN. Secreted (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UI42-1; Sequence=Displayed; Name=2; IsoId=Q9UI42-2; Sequence=VSP_042894; Note=No experimental confirmation available; Fetal expression in the adrenal gland, brain, heart, intestine, kidney, liver and lung. Except for fetal brain that shows no imprinting, expression was found preferentially from the maternal allele. Up-regulated by inhibitors of histone dacetylation. Belongs to the peptidase M14 family. carboxypeptidase activity metallocarboxypeptidase activity protein binding cellular_component extracellular region extracellular space proteolysis peptidase activity metallopeptidase activity zinc ion binding histone acetylation hydrolase activity metal ion binding uc285zyb.1 uc285zyb.2 
ENST00000222511.11 GTPBP10 ENST00000222511.11 Homo sapiens GTP binding protein 10 (GTPBP10), transcript variant 2, mRNA. (from RefSeq NM_033107) A4D1E9 B4DFY6 ENST00000222511.1 ENST00000222511.10 ENST00000222511.2 ENST00000222511.3 ENST00000222511.4 ENST00000222511.5 ENST00000222511.6 ENST00000222511.7 ENST00000222511.8 ENST00000222511.9 GTPBA_HUMAN NM_033107 OBGH2 Q3B7A6 Q5H9V2 Q8IXG8 Q8N982 Q8WU16 Q9BSP1 Q9Y6T6 UG0751c10 uc003ukm.1 uc003ukm.2 uc003ukm.3 uc003ukm.4 Small G proteins, such as GTPBP10, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008]. May be involved in the ribosome maturation process. Complements an ObgE(CgtA) function in E.coli ribosome maturation. Plays a role of GTPase in vitro. When missing, disorganization of the nuceleolar architecture is observed. Nucleus, nucleolus. Chromosome. Note=Found in the dense fibrillar compartment region of the nucleolus. At the onset of mitosis moves to the chromosome surface and remains there until anaphase. Gradually re-assembles into the nucleolus at late anaphase to telophase. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=A4D1E9-1; Sequence=Displayed; Name=2; IsoId=A4D1E9-2; Sequence=VSP_029880; Name=3; IsoId=A4D1E9-3; Sequence=VSP_029881, VSP_029882; Belongs to the GTP1/OBG family. nucleotide binding RNA binding protein binding GTP binding nucleus chromosome nucleolus ribosome biogenesis uc003ukm.1 uc003ukm.2 uc003ukm.3 uc003ukm.4 
ENST00000222543.11 TFPI2 ENST00000222543.11 Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), transcript variant 1, mRNA. (from RefSeq NM_006528) ENST00000222543.1 ENST00000222543.10 ENST00000222543.2 ENST00000222543.3 ENST00000222543.4 ENST00000222543.5 ENST00000222543.6 ENST00000222543.7 ENST00000222543.8 ENST00000222543.9 NM_006528 P48307 Q66ME8 Q9UC86 TFPI2_HUMAN uc003umy.1 uc003umy.2 uc003umy.3 uc003umy.4 This gene encodes a member of the Kunitz-type serine proteinase inhibitor family. The protein can inhibit a variety of serine proteases including factor VIIa/tissue factor, factor Xa, plasmin, trypsin, chymotryspin and plasma kallikrein. This gene has been identified as a tumor suppressor gene in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. May play a role in the regulation of plasmin-mediated matrix remodeling. Inhibits trypsin, plasmin, factor VIIa/tissue factor and weakly factor Xa. Has no effect on thrombin. Secreted. Umbilical vein endothelial cells, liver, placenta, heart, pancreas, and maternal serum at advanced pregnancy. This inhibitor contains three inhibitory domains. Contains 3 BPTI/Kunitz inhibitor domains. serine-type endopeptidase inhibitor activity extracellular matrix structural constituent extracellular region extracellular space blood coagulation hemostasis negative regulation of peptidase activity negative regulation of endopeptidase activity peptidase inhibitor activity extracellular matrix cellular response to fluid shear stress uc003umy.1 uc003umy.2 uc003umy.3 uc003umy.4 
ENST00000222547.8 BET1 ENST00000222547.8 Homo sapiens Bet1 golgi vesicular membrane trafficking protein (BET1), transcript variant 1, mRNA. (from RefSeq NM_005868) ENST00000222547.1 ENST00000222547.2 ENST00000222547.3 ENST00000222547.4 ENST00000222547.5 ENST00000222547.6 ENST00000222547.7 NM_005868 Q53XK0 Q53XK0_HUMAN hCG_19198 tcag7.252 uc003unf.1 uc003unf.2 uc003unf.3 This gene encodes a golgi-associated membrane protein that participates in vesicular transport from the endoplasmic reticulum (ER) to the Golgi complex. The encoded protein functions as a soluble N-ethylaleimide-sensitive factor attachment protein receptor and may be involved in the docking of ER-derived vesicles with the cis-Golgi membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. protein binding protein transport membrane integral component of membrane integral component of Golgi membrane uc003unf.1 uc003unf.2 uc003unf.3 
ENST00000222567.6 POLR1F ENST00000222567.6 Homo sapiens RNA polymerase I subunit F (POLR1F), mRNA. (from RefSeq NM_001002926) A0PJ45 B7Z724 ENST00000222567.1 ENST00000222567.2 ENST00000222567.3 ENST00000222567.4 ENST00000222567.5 NM_001002926 Q3B726 RPA43_HUMAN TWISTNB uc003sup.1 uc003sup.2 uc003sup.3 DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Through its association with RRN3/TIF-IA may be involved in recruitment of Pol I to rDNA promoters. Component of the RNA polymerase I (Pol I) complex consisting of at least 13 subunits (By similarity). Interacts with RRN3/TIF-IA. Nucleus, nucleolus (By similarity). Widely expressed. Expressed in all fetal and adult tissues tested, with highest expression in fetal lung, liver, and kidney, and low expression in all adult tissues. Belongs to the eukaryotic RPA43 RNA polymerase subunit family. Sequence=AAH14574.1; Type=Frameshift; Positions=224; DNA-directed 5'-3' RNA polymerase activity nucleus nucleoplasm nucleolus DNA-directed RNA polymerase I complex transcription, DNA-templated transcription initiation from RNA polymerase I promoter transcription elongation from RNA polymerase I promoter termination of RNA polymerase I transcription positive regulation of gene expression, epigenetic cellular response to leukemia inhibitory factor RNA polymerase I activity uc003sup.1 uc003sup.2 uc003sup.3 
ENST00000222573.5 ITGB8 ENST00000222573.5 Homo sapiens integrin subunit beta 8 (ITGB8), mRNA. (from RefSeq NM_002214) A4D133 ENST00000222573.1 ENST00000222573.2 ENST00000222573.3 ENST00000222573.4 ITB8_HUMAN NM_002214 P26012 uc003suu.1 uc003suu.2 uc003suu.3 uc003suu.4 uc003suu.5 This gene is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alpha subunit to form a heterodimeric integrin complex. In general, integrin complexes mediate cell-cell and cell-extracellular matrix interactions and this complex plays a role in human airway epithelial proliferation. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.12804.1, M73780.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222573.5/ ENSP00000222573.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Integrin alpha-V/beta-8 is a receptor for fibronectin. Heterodimer of an alpha and a beta subunit. Beta-8 associates with alpha-V. Membrane; Single-pass type I membrane protein. Placenta, kidney, brain, ovary, uterus and in several transformed cells. Transiently expressed in 293 human embryonic kidney cells. Belongs to the integrin beta chain family. Contains 1 VWFA domain. vasculogenesis ganglioside metabolic process receptor binding integrin binding plasma membrane cell adhesion integrin-mediated signaling pathway integrin complex cell surface positive regulation of gene expression negative regulation of gene expression membrane integral component of membrane cell migration extracellular matrix organization cell adhesion mediated by integrin integrin alphav-beta8 complex signaling receptor activity positive regulation of angiogenesis cartilage development placenta blood vessel development extracellular exosome regulation of transforming growth factor beta activation extracellular matrix protein binding cell-matrix adhesion uc003suu.1 uc003suu.2 uc003suu.3 uc003suu.4 uc003suu.5 
ENST00000222584.8 SP4 ENST00000222584.8 Homo sapiens Sp4 transcription factor (SP4), transcript variant 1, mRNA. (from RefSeq NM_003112) ENST00000222584.1 ENST00000222584.2 ENST00000222584.3 ENST00000222584.4 ENST00000222584.5 ENST00000222584.6 ENST00000222584.7 NM_003112 O60402 Q02446 Q32M52 SP4_HUMAN uc003sva.1 uc003sva.2 uc003sva.3 uc003sva.4 uc003sva.5 The protein encoded by this gene is a transcription factor that can bind to the GC promoter region of a variety of genes, including those of the photoreceptor signal transduction system. The encoded protein binds to the same sites in promoter CpG islands as does the transcription factor SP1, although its expression is much more restricted compared to that of SP1. This gene may be involved in bipolar disorder and schizophrenia. [provided by RefSeq, May 2016]. Binds to GT and GC boxes promoters elements. Probable transcriptional activator. Nucleus. Abundant in brain. Belongs to the Sp1 C2H2-type zinc-finger protein family. Contains 3 C2H2-type zinc fingers. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity protein binding nucleus nucleoplasm cytosol regulation of transcription from RNA polymerase II promoter sequence-specific DNA binding metal ion binding positive regulation of nucleic acid-templated transcription uc003sva.1 uc003sva.2 uc003sva.3 uc003sva.4 uc003sva.5 
ENST00000222644.10 PALS2 ENST00000222644.10 Homo sapiens membrane palmitoylated protein 6 (MPP6), transcript variant 2, mRNA. (from RefSeq NM_001303037) A4D157 ENST00000222644.1 ENST00000222644.2 ENST00000222644.3 ENST00000222644.4 ENST00000222644.5 ENST00000222644.6 ENST00000222644.7 ENST00000222644.8 ENST00000222644.9 MPP6 MPP6_HUMAN NM_001303037 Q9H0E1 Q9NZW5 VAM1 uc003swy.1 uc003swy.2 uc003swy.3 uc003swy.4 uc003swy.5 Members of the peripheral membrane-associated guanylate kinase (MAGUK) family function in tumor suppression and receptor clustering by forming multiprotein complexes containing distinct sets of transmembrane, cytoskeletal, and cytoplasmic signaling proteins. All MAGUKs contain a PDZ-SH3-GUK core and are divided into 4 subfamilies, DLG-like (see DLG1; MIM 601014), ZO1-like (see TJP1; MIM 601009), p55-like (see MPP1; MIM 305360), and LIN2-like (see CASK; MIM 300172), based on their size and the presence of additional domains. MPP6 is a member of the p55-like MAGUK subfamily (Tseng et al., 2001 [PubMed 11311936]).[supplied by OMIM, Mar 2008]. Interacts with CADM1 (By similarity). Interacts with the LIN7 proteins. Membrane; Peripheral membrane protein (By similarity). Abundant in testis, brain, and kidney with lower levels detectable in other tissues. Belongs to the MAGUK family. Contains 1 guanylate kinase-like domain. Contains 2 L27 domains. Contains 1 PDZ (DHR) domain. Contains 1 SH3 domain. protein binding plasma membrane membrane macromolecular complex assembly extracellular exosome uc003swy.1 uc003swy.2 uc003swy.3 uc003swy.4 uc003swy.5 
ENST00000222673.6 OGDH ENST00000222673.6 Homo sapiens oxoglutarate dehydrogenase (OGDH), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_002541) B4E2U9 D3DVL0 E9PBM1 ENST00000222673.1 ENST00000222673.2 ENST00000222673.3 ENST00000222673.4 ENST00000222673.5 NM_002541 ODO1_HUMAN Q02218 Q96DD3 Q9UDX0 uc003tln.1 uc003tln.2 uc003tln.3 uc003tln.4 uc003tln.5 This gene encodes one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Krebs cycle. The protein is located in the mitochondrial matrix and uses thiamine pyrophosphate as a cofactor. A congenital deficiency in 2-oxoglutarate dehydrogenase activity is believed to lead to hypotonia, metabolic acidosis, and hyperlactatemia. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]. The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2- oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3). 2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine = [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2). Thiamine pyrophosphate. Catabolite repressed. Mitochondrion matrix. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q02218-1; Sequence=Displayed; Name=2; IsoId=Q02218-2; Sequence=VSP_042313; Name=3; IsoId=Q02218-3; Sequence=VSP_043628, VSP_043629; Note=No experimental confirmation available; Belongs to the alpha-ketoglutarate dehydrogenase family. Sequence=BAA01393.1; Type=Frameshift; Positions=1003; Sequence=BAA06836.1; Type=Frameshift; Positions=1003; Name=Wikipedia; Note=Alpha-ketoglutarate dehydrogenase entry; URL="http://en.wikipedia.org/wiki/Alpha-ketoglutarate_dehydrogenase"; oxoglutarate dehydrogenase (succinyl-transferring) activity nucleus mitochondrion mitochondrial matrix generation of precursor metabolites and energy glycolytic process tricarboxylic acid cycle 2-oxoglutarate metabolic process succinyl-CoA metabolic process lysine catabolic process oxidoreductase activity oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor thiamine pyrophosphate binding mitochondrial membrane oxoglutarate dehydrogenase complex metal ion binding oxidation-reduction process uc003tln.1 uc003tln.2 uc003tln.3 uc003tln.4 uc003tln.5 
ENST00000222674.2 NPVF ENST00000222674.2 Homo sapiens neuropeptide VF precursor (NPVF), mRNA. (from RefSeq NM_022150) A4D164 C7orf9 ENST00000222674.1 NM_022150 Q7LE27 Q96PI9 Q9HCQ7 RFRP RFRP_HUMAN uc003sxo.1 uc003sxo.2 uc003sxo.3 uc003sxo.4 Neuropeptide RFRP-1 acts as a potent negative regulator of gonadotropin synthesis and secretion. Neuropeptides NPSF and NPVF efficiently inhibit forskolin-induced production of cAMP, but RFRP-2 shows no inhibitory activity. Neuropeptide RFRP-1 induces secretion of prolactin in rats. Neuropeptide NPVF blocks morphine- induced analgesia. P00519:ABL1; NbExp=1; IntAct=EBI-1753111, EBI-375543; P06241:FYN; NbExp=1; IntAct=EBI-1753111, EBI-515315; P16333:NCK1; NbExp=1; IntAct=EBI-1753111, EBI-389883; Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9HCQ7-1; Sequence=Displayed; Name=2; IsoId=Q9HCQ7-2; Sequence=VSP_039962; Isoform 1 is specifically expressed in the retina. Neuropeptides RFRP-1 and NPVF are detected in the hypothalamus. Mass=1428.85; Method=MALDI; Range=81-92; Source=PubMed:20027225; Mass=969.56; Method=MALDI; Range=124-131; Source=PubMed:20027225; Belongs to the FARP (FMRFamide related peptide) family. extracellular region neuropeptide signaling pathway negative regulation of gonadotropin secretion uc003sxo.1 uc003sxo.2 uc003sxo.3 uc003sxo.4 
ENST00000222693.5 CAV2 ENST00000222693.5 Homo sapiens caveolin 2 (CAV2), transcript variant 1, mRNA. (from RefSeq NM_001233) ENST00000222693.1 ENST00000222693.2 ENST00000222693.3 ENST00000222693.4 NM_001233 Q53X57 Q53X57_HUMAN hCG_39087 tcag7.25 uc003vid.1 uc003vid.2 uc003vid.3 uc003vid.4 uc003vid.5 The protein encoded by this gene is a major component of the inner surface of caveolae, small invaginations of the plasma membrane, and is involved in essential cellular functions, including signal transduction, lipid metabolism, cellular growth control and apoptosis. This protein may function as a tumor suppressor. This gene and related family member (CAV1) are located next to each other on chromosome 7, and express colocalizing proteins that form a stable hetero-oligomeric complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Additional isoforms resulting from the use of alternate in-frame translation initiation codons have also been described, and shown to have preferential localization in the cell (PMID:11238462). [provided by RefSeq, May 2011]. May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity (By similarity). Golgi apparatus membrane; Peripheral membrane protein. Cell membrane; Peripheral membrane protein. Membrane, caveola; Peripheral membrane protein (By similarity). Belongs to the caveolin family. Golgi membrane negative regulation of endothelial cell proliferation positive regulation of endothelial cell proliferation acrosomal membrane caveolar macromolecular signaling complex Golgi apparatus plasma membrane caveola focal adhesion mitochondrion organization endoplasmic reticulum organization negative regulation of cell proliferation membrane integral component of membrane protein kinase binding negative regulation of transforming growth factor beta receptor signaling pathway protein binding, bridging macromolecular complex protein heterodimerization activity skeletal muscle fiber development binding, bridging caveola assembly basement membrane organization scaffold protein binding uc003vid.1 uc003vid.2 uc003vid.3 uc003vid.4 uc003vid.5 
ENST00000222718.7 HOXA2 ENST00000222718.7 Homo sapiens homeobox A2 (HOXA2), mRNA. (from RefSeq NM_006735) A1L4K3 B2RMW3 ENST00000222718.1 ENST00000222718.2 ENST00000222718.3 ENST00000222718.4 ENST00000222718.5 ENST00000222718.6 HOX1K HXA2_HUMAN NM_006735 O43364 uc003syh.1 uc003syh.2 uc003syh.3 uc003syh.4 uc003syh.5 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC130571.1, CN431833.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142670 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222718.7/ ENSP00000222718.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Defects in HOXA2 are a cause of microtia hearing impairment and cleft palate (MHICP) [MIM:612290]. Microtia is a congenital deformity of the outer ear and occurs in approximately one in 8'000-10'000 births. It is characterized by a small, abnormally shaped outer ear. It can be unilateral or bilateral. Syndromic forms of microtia occur in conjunction with other abnormalities. The most common associated malformations is the cleft palate, a congenital fissure of the soft and/or hard palate due to faulty fusion. Defects in HOXA2 are a cause of autosomal- recessive bilateral microtia, mixed symmetrical severe to profound hearing impairment and partial cleft palate. Belongs to the Antp homeobox family. Proboscipedia subfamily. Contains 1 homeobox DNA-binding domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding cell fate determination osteoblast development DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated multicellular organism development segment specification pattern specification process motor neuron axon guidance anterior/posterior pattern specification dorsal/ventral pattern formation rhombomere 2 development rhombomere 3 development rhombomere 3 morphogenesis brain segmentation middle ear morphogenesis intracellular membrane-bounded organelle sequence-specific DNA binding cell fate commitment negative regulation of neuron differentiation negative regulation of osteoblast differentiation positive regulation of transcription from RNA polymerase II promoter embryonic viscerocranium morphogenesis embryonic skeletal system morphogenesis cellular response to retinoic acid uc003syh.1 uc003syh.2 uc003syh.3 uc003syh.4 uc003syh.5 
ENST00000222725.10 LFNG ENST00000222725.10 Homo sapiens LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (LFNG), transcript variant 1, mRNA. (from RefSeq NM_001040167) ENST00000222725.1 ENST00000222725.2 ENST00000222725.3 ENST00000222725.4 ENST00000222725.5 ENST00000222725.6 ENST00000222725.7 ENST00000222725.8 ENST00000222725.9 LFNG_HUMAN NM_001040167 O00589 Q8NES3 Q96C39 Q9UJW5 uc003smf.1 uc003smf.2 uc003smf.3 uc003smf.4 uc003smf.5 This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also includes the MFNG (GeneID: 4242) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, these proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. The protein encoded by this gene is predicted to be a single-pass type II Golgi membrane protein but it may also be secreted and proteolytically processed like the related proteins in mouse and Drosophila (PMID: 9187150). Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. [provided by RefSeq, May 2018]. Glycosyltransferase that initiates the elongation of O- linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Decreases the binding of JAGGED1 to NOTCH2 but not that of DELTA1. Essential mediator of somite segmentation and patterning (By similarity). Transfers a beta-D-GlcNAc residue from UDP-D- GlcNAc to the fucose residue of a fucosylated protein acceptor. Manganese (By similarity). Golgi apparatus membrane; Single-pass type II membrane protein (By similarity). Event=Alternative splicing; Named isoforms=3; Comment=Experimental confirmation may be lacking for some isoforms; Name=1; IsoId=Q8NES3-1; Sequence=Displayed; Name=2; IsoId=Q8NES3-2; Sequence=VSP_001792, VSP_001793; Name=3; IsoId=Q8NES3-3; Sequence=VSP_001794, VSP_001795; A soluble form may be derived from the membrane form by proteolytic processing (Potential). Defects in LFNG are the cause of spondylocostal dysostosis type 3 (SCDO3) [MIM:609813]. An autosomal recessive condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. Belongs to the glycosyltransferase 31 family. Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B3GNT1"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LFNG"; Name=Functional Glycomics Gateway - GTase; Note=Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_551"; Golgi membrane ovarian follicle development somitogenesis marginal zone B cell differentiation molecular_function extracellular region Golgi apparatus multicellular organism development compartment pattern specification pattern specification process regulation of Notch signaling pathway animal organ morphogenesis regulation of somitogenesis membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups integral component of Golgi membrane T cell differentiation positive regulation of protein binding O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity protein O-linked fucosylation positive regulation of Notch signaling pathway metal ion binding positive regulation of meiotic cell cycle negative regulation of Notch signaling pathway involved in somitogenesis extracellular vesicle uc003smf.1 uc003smf.2 uc003smf.3 uc003smf.4 uc003smf.5 
ENST00000222726.4 HOXA5 ENST00000222726.4 Homo sapiens homeobox A5 (HOXA5), mRNA. (from RefSeq NM_019102) A4D179 ENST00000222726.1 ENST00000222726.2 ENST00000222726.3 HOX1C HXA5_HUMAN NM_019102 O43367 P20719 Q96CY6 uc003syn.1 uc003syn.2 uc003syn.3 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Methylation of this gene may result in the loss of its expression and, since the encoded protein upregulates the tumor suppressor p53, this protein may play an important role in tumorigenesis. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC013682.1, ERR279833.10864.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03267755, SAMN03267761 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222726.4/ ENSP00000222726.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Also binds to its own promoter. Binds specifically to the motif 5'-CYYNATTA[TG]Y-3'. Nucleus. Expressed during embryogenesis and in adult kidney. Belongs to the Antp homeobox family. Contains 1 homeobox DNA-binding domain. nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding skeletal system development morphogenesis of an epithelium respiratory system process DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated multicellular organism development pattern specification process respiratory gaseous exchange anterior/posterior pattern specification positive regulation of receptor biosynthetic process cell migration negative regulation of angiogenesis lung development thyroid gland development regulation of mammary gland epithelial cell proliferation multicellular organism growth positive regulation of apoptotic process sequence-specific DNA binding positive regulation of myeloid cell differentiation negative regulation of erythrocyte differentiation positive regulation of transcription from RNA polymerase II promoter lung alveolus development embryonic skeletal system morphogenesis embryonic skeletal system development bronchiole development trachea morphogenesis epithelial tube branching involved in lung morphogenesis lung goblet cell differentiation lobar bronchus epithelium development lung-associated mesenchyme development trachea cartilage morphogenesis cartilage morphogenesis intestinal epithelial cell maturation mesenchymal-epithelial cell signaling mammary gland epithelial cell differentiation mammary gland alveolus development cell-cell signaling involved in mammary gland development uc003syn.1 uc003syn.2 uc003syn.3 
ENST00000222728.3 HOXA6 ENST00000222728.3 Homo sapiens homeobox A6 (HOXA6), mRNA. (from RefSeq NM_024014) A4D192 ENST00000222728.1 ENST00000222728.2 HOX1B HXA6_HUMAN NM_024014 P31267 Q2M3G3 Q9UPM0 uc003syo.1 uc003syo.2 uc003syo.3 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC104915.1, EL736261.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222728.3/ ENSP00000222728.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Belongs to the Antp homeobox family. Contains 1 homeobox DNA-binding domain. nuclear chromatin RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development anterior/posterior pattern specification sequence-specific DNA binding embryonic skeletal system morphogenesis embryonic skeletal system development uc003syo.1 uc003syo.2 uc003syo.3 
ENST00000222747.8 TSPAN12 ENST00000222747.8 Homo sapiens tetraspanin 12 (TSPAN12), mRNA. (from RefSeq NM_012338) A4D0V8 B4DRG6 ENST00000222747.1 ENST00000222747.2 ENST00000222747.3 ENST00000222747.4 ENST00000222747.5 ENST00000222747.6 ENST00000222747.7 NET2 NM_012338 O95859 Q549U9 Q8N5Y0 TM4SF12 TSN12_HUMAN UNQ774/PRO1568 uc003vjk.1 uc003vjk.2 uc003vjk.3 uc003vjk.4 uc003vjk.5 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY358703.1, SRR3476690.754286.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222747.8/ ENSP00000222747.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Regulator of cell surface receptor signal transduction. Plays a central role in retinal vascularization by regulating norrin (NDP) signal transduction. Acts in concert with norrin (NDP) to promote FZD4 multimerization and subsequent activation of FZD4, leading to promote accumulation of beta-catenin (CTNNB1) and stimulate LEF/TCF-mediated transcriptional programs. Suprisingly, it only activate the norrin (NDP)-dependent activation of FZD4, while it does not activate the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1) (By similarity). Acts as a regulator of membrane proteinases such as ADAM10 and MMP14/MT1-MMP. Activates ADAM10-dependent cleavage activity of amyloid precursor protein (APP). Activates MMP14/MT1-MMP-dependent cleavage activity. Component of a complex, at least composed of TSPAN12, FZD4 and norrin (NDP) (By similarity). Interacts (when palmitoylated) with ADAM10. Interacts with MMP14/MT1-MMP. Cell membrane; Multi-pass membrane protein (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O95859-1; Sequence=Displayed; Name=2; IsoId=O95859-2; Sequence=VSP_038525; Note=No experimental confirmation available; Palmitoylated; required for interaction with ADAM10. The precise position of palmitoylated residues is unclear and occurs either on Cys-9, Cys-12 and/or Cys-83. Defects in TSPAN12 are the cause of vitreoretinopathy exudative type 5 (EVR5) [MIM:613310]. It is a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. Note=TSPAN12 dominant and recessive mutations have been identified in patients with exudative vitreoretinopathy. Patients with mutations in both alleles of TSPAN12 have severe exudative vitreoretinopathy or retinal dysplasia. These mutations appear to result in a milder phenotype in heterozygous mutation carriers (PubMed:22427576). Belongs to the tetraspanin (TM4SF) family. angiogenesis protein binding plasma membrane integral component of plasma membrane cell surface receptor signaling pathway retina layer formation membrane integral component of membrane Wnt signaling pathway regulation of angiogenesis Wnt-activated receptor activity uc003vjk.1 uc003vjk.2 uc003vjk.3 uc003vjk.4 uc003vjk.5 
ENST00000222792.11 CHN2 ENST00000222792.11 Homo sapiens chimerin 2 (CHN2), transcript variant 2, mRNA. (from RefSeq NM_004067) ARHGAP3 BCH CHIO_HUMAN ENST00000222792.1 ENST00000222792.10 ENST00000222792.2 ENST00000222792.3 ENST00000222792.4 ENST00000222792.5 ENST00000222792.6 ENST00000222792.7 ENST00000222792.8 ENST00000222792.9 NM_004067 P52757 Q2M203 Q75MM2 uc003szz.1 uc003szz.2 uc003szz.3 uc003szz.4 uc003szz.5 This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that contains a phorbol-ester/diacylglycerol (DAG)-type zinc finger, a Rho-GAP domain, and an SH2 domain. The encoded protein translocates from the cytosol to the Golgi apparatus membrane upon binding by diacylglycerol (DAG). Activity of this protein is important in cell proliferation and migration, and expression changes in this gene have been detected in cancers. A mutation in this gene has also been associated with schizophrenia in men. Alternative transcript splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, May 2014]. GTPase-activating protein for p21-rac. Insufficient expression of beta-2 chimaerin is expected to lead to higher Rac activity and could therefore play a role in the progression from low-grade to high-grade tumors. Membrane; Peripheral membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=Beta-2; IsoId=P52757-1; Sequence=Displayed; Name=Beta-1; IsoId=P52757-2; Sequence=Not described; Highest levels in the brain and pancreas. Also expressed in the heart, placenta, and weakly in the kidney and liver. Expression is much reduced in the malignant gliomas, compared to normal brain or low-grade astrocytomas. Contains 1 phorbol-ester/DAG-type zinc finger. Contains 1 Rho-GAP domain. Contains 1 SH2 domain. SH3/SH2 adaptor activity GTPase activator activity protein binding cytosol signal transduction positive regulation of signal transduction membrane intracellular signal transduction regulation of GTPase activity positive regulation of GTPase activity metal ion binding regulation of small GTPase mediated signal transduction uc003szz.1 uc003szz.2 uc003szz.3 uc003szz.4 uc003szz.5 
ENST00000222800.8 ABHD11 ENST00000222800.8 Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=A; IsoId=Q8NFV4-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q8NFV4-2; Sequence=VSP_023925, VSP_023928; Name=3; Synonyms=C; IsoId=Q8NFV4-3; Sequence=VSP_023926, VSP_023927; Name=4; Synonyms=D; IsoId=Q8NFV4-4; Sequence=VSP_023924; Name=5; Synonyms=E; IsoId=Q8NFV4-5; Sequence=VSP_023924, VSP_023929, VSP_023930; (from UniProt Q8NFV4) ABHDB_HUMAN ENST00000222800.1 ENST00000222800.2 ENST00000222800.3 ENST00000222800.4 ENST00000222800.5 ENST00000222800.6 ENST00000222800.7 NR_169872 PP1226 Q6PJU0 Q8N722 Q8N723 Q8NFV2 Q8NFV3 Q8NFV4 Q9HBS8 WBSCR21 uc003tzb.1 uc003tzb.2 uc003tzb.3 uc003tzb.4 uc003tzb.5 Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=A; IsoId=Q8NFV4-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q8NFV4-2; Sequence=VSP_023925, VSP_023928; Name=3; Synonyms=C; IsoId=Q8NFV4-3; Sequence=VSP_023926, VSP_023927; Name=4; Synonyms=D; IsoId=Q8NFV4-4; Sequence=VSP_023924; Name=5; Synonyms=E; IsoId=Q8NFV4-5; Sequence=VSP_023924, VSP_023929, VSP_023930; Ubiquitously expressed. Note=ABHD11 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Belongs to the AB hydrolase superfamily. It is uncertain whether Met-1 or Met-10 is the initiator. Sequence=AAG17214.1; Type=Erroneous translation; Note=Wrong choice of frame; Sequence=AAS07472.1; Type=Erroneous gene model prediction; molecular_function cellular_component mitochondrion biological_process hydrolase activity uc003tzb.1 uc003tzb.2 uc003tzb.3 uc003tzb.4 uc003tzb.5 
ENST00000222803.10 FKBP14 ENST00000222803.10 Homo sapiens FKBP prolyl isomerase 14 (FKBP14), transcript variant 3, non-coding RNA. (from RefSeq NR_046479) ENST00000222803.1 ENST00000222803.2 ENST00000222803.3 ENST00000222803.4 ENST00000222803.5 ENST00000222803.6 ENST00000222803.7 ENST00000222803.8 ENST00000222803.9 FKB14_HUMAN FKBP22 NR_046479 Q9NWM8 UNQ322/PRO381 uc003tal.1 uc003tal.2 uc003tal.3 uc003tal.4 The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012]. PPIases accelerate the folding of proteins during protein synthesis. Peptidylproline (omega=180) = peptidylproline (omega=0). Endoplasmic reticulum lumen. Defects in FKBP14 are the cause of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH) [MIM:614557]. A syndrome with features of Ehlers-Danlos syndrome types VIA and VIB on the one hand, and the collagen VI- related congenital myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy on the other hand. Clinically, this disorder is characterized by the following features: severe generalized hypotonia at birth with marked muscle weakness that improve in infancy; early-onset progressive kyphoscoliosis; joint hypermobility without contractures; hyperelastic skin with follicular hyperkeratosis, easy bruising, and occasional abnormal scarring; myopathy as confirmed by muscle MRI, histology, and electron microscopy; hearing impairment, which is predominantly sensorineural; and a normal ratio of lysyl pyridinoline to hydroxylysyl pyridinoline (LP/HP) in urine. Contains 2 EF-hand domains. Contains 1 PPIase FKBP-type domain. protein peptidyl-prolyl isomerization peptidyl-prolyl cis-trans isomerase activity calcium ion binding endoplasmic reticulum endoplasmic reticulum lumen isomerase activity IRE1-mediated unfolded protein response metal ion binding uc003tal.1 uc003tal.2 uc003tal.3 uc003tal.4 
ENST00000222812.8 STX1A ENST00000222812.8 Homo sapiens syntaxin 1A (STX1A), transcript variant 1, mRNA. (from RefSeq NM_004603) ENST00000222812.1 ENST00000222812.2 ENST00000222812.3 ENST00000222812.4 ENST00000222812.5 ENST00000222812.6 ENST00000222812.7 NM_004603 Q75ME0 Q75ME0_HUMAN hCG_96107 uc003tyx.1 uc003tyx.2 uc003tyx.3 uc003tyx.4 uc003tyx.5 This gene encodes a member of the syntaxin superfamily. Syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane. Syntaxins possess a single C-terminal transmembrane domain, a SNARE [Soluble NSF (N-ethylmaleimide-sensitive fusion protein)-Attachment protein REceptor] domain (known as H3), and an N-terminal regulatory domain (Habc). Syntaxins bind synaptotagmin in a calcium-dependent fashion and interact with voltage dependent calcium and potassium channels via the C-terminal H3 domain. This gene product is a key molecule in ion channel regulation and synaptic exocytosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]. Belongs to the syntaxin family. Contains 1 t-SNARE coiled-coil homology domain. SNARE binding positive regulation of neurotransmitter secretion SNAP receptor activity plasma membrane integral component of plasma membrane intracellular protein transport synaptic vesicle voltage-gated potassium channel complex response to gravity positive regulation of norepinephrine secretion regulation of synaptic vesicle priming postsynaptic density membrane integral component of membrane synaptic vesicle exocytosis synaptic vesicle docking vesicle-mediated transport myosin binding calcium ion regulated exocytosis regulation of exocytosis calcium channel inhibitor activity protein domain specific binding insulin secretion secretory granule integral component of synaptic vesicle membrane axon synaptic vesicle membrane protein binding, bridging synaptic vesicle fusion to presynaptic active zone membrane nuclear membrane myosin head/neck binding macromolecular complex positive regulation of catecholamine secretion SNARE complex assembly actomyosin presynaptic membrane neuron projection ATP-dependent protein binding intracellular organelle ion channel binding regulated exocytosis positive regulation of exocytosis positive regulation of calcium ion-dependent exocytosis hormone secretion protein heterodimerization activity protein N-terminus binding vesicle docking calcium-dependent protein binding presynaptic active zone membrane synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex synaptobrevin 2-SNAP-25-syntaxin-1a complex protein localization to membrane modulation of excitatory postsynaptic potential glutamatergic synapse integral component of presynaptic membrane positive regulation of excitatory postsynaptic potential uc003tyx.1 uc003tyx.2 uc003tyx.3 uc003tyx.4 uc003tyx.5 
ENST00000222823.9 NOD1 ENST00000222823.9 Homo sapiens nucleotide binding oligomerization domain containing 1 (NOD1), transcript variant 1, mRNA. (from RefSeq NM_006092) CARD4 ENST00000222823.1 ENST00000222823.2 ENST00000222823.3 ENST00000222823.4 ENST00000222823.5 ENST00000222823.6 ENST00000222823.7 ENST00000222823.8 NM_006092 NOD1_HUMAN Q549U4 Q8IWF5 Q9Y239 uc003tav.1 uc003tav.2 uc003tav.3 uc003tav.4 uc003tav.5 This gene encodes a member of the nucleotide-binding oligomerization domain (NOD)-like receptor (NLR) family of proteins. The encoded protein plays a role in innate immunity by acting as a pattern-recognition receptor (PRR) that binds bacterial peptidoglycans and initiates inflammation. This protein has also been implicated in the immune response to viral and parasitic infection. Major structural features of this protein include an N-terminal caspase recruitment domain (CARD), a centrally located nucleotide-binding domain (NBD), and 10 tandem leucine-rich repeats (LRRs) in its C terminus. The CARD is involved in apoptotic signaling, LRRs participate in protein-protein interactions, and mutations in the NBD may affect the process of oligomerization and subsequent function of the LRR domain. Mutations in this gene are associated with asthma, inflammatory bowel disease, Behcet disease and sarcoidosis in human patients. [provided by RefSeq, Aug 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.197963.1, BC040339.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222823.9/ ENSP00000222823.4 RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## Enhances caspase-9-mediated apoptosis. Induces NF-kappa- B activity via RIPK2 and IKK-gamma. Confers responsiveness to intracellular bacterial lipopolysaccharides (LPS). Forms an intracellular sensing system along with ARHGEF2 for the detection of microbial effectors during cell invasion by pathogens. Required for RHOA and RIPK2 dependent NF-kappa-B signaling pathways activation upon S.flexneri cell invasion. Involved not only in sensing peptidoglycan (PGN)-derived muropeptides but also in the activation of NF-kappa-B by Shigella effector proteins IpgB2 and OspB. Homodimer. Self-associates. Binds to caspase-9 and RIPK2 by CARD-CARD interaction. Interacts with ARHGEF2. Self; NbExp=2; IntAct=EBI-1051262, EBI-1051262; Cytoplasm. Basolateral cell membrane. Note=Recruited to the basolateral membrane compartment in polarized epithelial cells. Highly expressed in adult heart, skeletal muscle, pancreas, spleen and ovary. Also detected in placenta, lung, liver, kidney, thymus, testis, small intestine and colon. Contains 1 CARD domain. Contains 9 LRR (leucine-rich) repeats. Contains 1 NACHT domain. nucleotide binding activation of MAPK activity immune system process positive regulation of dendritic cell antigen processing and presentation protein binding ATP binding cytoplasm cytosol plasma membrane apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process defense response inflammatory response signal transduction JNK cascade cysteine-type endopeptidase activator activity involved in apoptotic process detection of biotic stimulus positive regulation of cell death membrane detection of bacterium basolateral plasma membrane apical plasma membrane positive regulation of interleukin-1 beta production positive regulation of interleukin-6 production positive regulation of tumor necrosis factor production positive regulation of stress-activated MAPK cascade intracellular signal transduction interleukin-8 biosynthetic process defense response to bacterium identical protein binding protein homodimerization activity peptidoglycan binding regulation of apoptotic process positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of cysteine-type endopeptidase activity involved in apoptotic process macromolecular complex binding innate immune response positive regulation of JNK cascade CARD domain binding defense response to Gram-positive bacterium positive regulation of nitric-oxide synthase activity positive regulation of NF-kappaB transcription factor activity positive regulation of ERK1 and ERK2 cascade nucleotide-binding oligomerization domain containing signaling pathway interleukin-1-mediated signaling pathway cellular response to muramyl dipeptide positive regulation of NIK/NF-kappaB signaling positive regulation of xenophagy uc003tav.1 uc003tav.2 uc003tav.3 uc003tav.4 uc003tav.5 
ENST00000222982.8 CYP3A5 ENST00000222982.8 Homo sapiens cytochrome P450 family 3 subfamily A member 5 (CYP3A5), transcript variant 5, mRNA. (from RefSeq NM_001291830) A4D289 B7Z5I7 CP3A5_HUMAN ENST00000222982.1 ENST00000222982.2 ENST00000222982.3 ENST00000222982.4 ENST00000222982.5 ENST00000222982.6 ENST00000222982.7 NM_001291830 P20815 Q53WY8 Q75MV0 Q9HB56 uc003urq.1 uc003urq.2 uc003urq.3 uc003urq.4 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein metabolizes drugs as well as the steroid hormones testosterone and progesterone. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Two pseudogenes of this gene have been identified within this cluster on chromosome 7. Expression of this gene is widely variable among populations, and a single nucleotide polymorphism that affects transcript splicing has been associated with susceptibility to hypertensions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]. Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. RH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + H(2)O. Heme group (By similarity). Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P20815-1; Sequence=Displayed; Name=2; IsoId=P20815-2; Sequence=VSP_042734, VSP_042735; Note=No experimental confirmation available; P450 can be induced to high levels in liver and other tissues by various foreign compounds, including drugs, pesticides, and carcinogens. Chimeric transcripts, characterized by CYP3A43 exon 1 joined at canonical splice sites to distinct sets of CYP3A5 exons, have been detected. All are possibly produced by trans- splicing. The chimeric transcripts exist in 2 different combinations: CYP3A43 exon 1 joined in frame to CYP3A5 exon 11-13 and CYP3A43 exon 1 joined in frame to CYP3A5 exon 12-13. All chimeric transcripts are expressed at very low levels in the liver (PubMed:11726664). Belongs to the cytochrome P450 family. Name=Cytochrome P450 Allele Nomenclature Committee; Note=CYP3A5 alleles; URL="http://www.cypalleles.ki.se/cyp3a5.htm"; lipid hydroxylation monooxygenase activity iron ion binding endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process xenobiotic metabolic process steroid metabolic process estrogen metabolic process steroid hydroxylase activity retinoic acid 4-hydroxylase activity alkaloid catabolic process membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen oxygen binding heme binding organelle membrane retinol metabolic process retinoic acid metabolic process drug catabolic process intracellular membrane-bounded organelle metal ion binding testosterone 6-beta-hydroxylase activity oxidation-reduction process aromatase activity oxidative demethylation estrogen 16-alpha-hydroxylase activity uc003urq.1 uc003urq.2 uc003urq.3 uc003urq.4 
ENST00000222990.8 SNX8 ENST00000222990.8 Homo sapiens sorting nexin 8 (SNX8), mRNA. (from RefSeq NM_013321) A4D207 ENST00000222990.1 ENST00000222990.2 ENST00000222990.3 ENST00000222990.4 ENST00000222990.5 ENST00000222990.6 ENST00000222990.7 NM_013321 Q96I67 Q9Y5X2 SNX8_HUMAN uc003slw.1 uc003slw.2 uc003slw.3 uc003slw.4 May be involved in several stages of intracellular trafficking. May play a role in intracellular protein transport from early endosomes to the trans-Golgi network. P16333:NCK1; NbExp=2; IntAct=EBI-1752557, EBI-389883; Early endosome membrane; Peripheral membrane protein; Cytoplasmic side. Note=Colocalizes with retromer components. Belongs to the sorting nexin family. Contains 1 PX (phox homology) domain. protein binding endosome cytosol intracellular protein transport lipid binding protein transport membrane early endosome membrane early endosome to Golgi transport phosphatidylinositol binding retrograde transport, endosome to Golgi identical protein binding intracellular membrane-bounded organelle retromer complex uc003slw.1 uc003slw.2 uc003slw.3 uc003slw.4 
ENST00000223023.5 WASL ENST00000223023.5 Homo sapiens WASP like actin nucleation promoting factor (WASL), mRNA. (from RefSeq NM_003941) ENST00000223023.1 ENST00000223023.2 ENST00000223023.3 ENST00000223023.4 NM_003941 O00401 Q7Z746 WASL_HUMAN uc003vkz.1 uc003vkz.2 uc003vkz.3 uc003vkz.4 uc003vkz.5 uc003vkz.6 This gene encodes a member of the Wiskott-Aldrich syndrome (WAS) protein family. Wiskott-Aldrich syndrome proteins share similar domain structure, and associate with a variety of signaling molecules to alter the actin cytoskeleton. The encoded protein is highly expressed in neural tissues, and interacts with several proteins involved in cytoskeletal organization, including cell division control protein 42 (CDC42) and the actin-related protein-2/3 (ARP2/3) complex. The encoded protein may be involved in the formation of long actin microspikes, and in neurite extension. [provided by RefSeq, Jul 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC052955.1, SRR1660805.240690.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223023.5/ ENSP00000223023.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Regulates actin polymerization by stimulating the actin- nucleating activity of the Arp2/3 complex. Binds to HSF1/HSTF1 and forms a complex on heat shock promoter elements (HSE) that negatively regulates HSP90 expression. Binds actin and the Arp2/3 complex. Interacts with CDC42. Binds to SH3 domains of GRB2. Interacts with the C-terminal SH3 domain of DNMBP. Interacts with SNX9. Interacts with the WW domains of PRPF40A/FBP11. Interacts with PTK2/FAK1 (By similarity). Interacts with NOSTRIN. Interacts with Shigella flexneri protein IcsA. The interaction with IcsA enhances the affinity of WASL for Arp2/3, thus assembling a tight complex which has maximal activity in actin assembly. Interacts with E.coli effector protein EspF(U). Identified in a complex containing at least WASL, BAIAP2L1 and E.coli EspF(U). Binds to TNK2. P61157:ACTR3 (xeno); NbExp=3; IntAct=EBI-957615, EBI-351419; P60953:CDC42; NbExp=3; IntAct=EBI-957615, EBI-81752; Q8R511:Fnbp1 (xeno); NbExp=2; IntAct=EBI-957615, EBI-1111424; P62993:GRB2; NbExp=3; IntAct=EBI-957615, EBI-401755; O60504-2:SORBS3; NbExp=2; IntAct=EBI-957615, EBI-1222956; O43516:WIPF1; NbExp=3; IntAct=EBI-957615, EBI-346356; Cytoplasm, cytoskeleton (By similarity). Nucleus (By similarity). Note=Preferentially localized in the cytoplasm when phosphorylated and in the nucleus when unphosphorylated (By similarity). Phosphorylation at Ser-242, Tyr-256, Ser-484 and Ser-485 enhances actin polymerization activity. Contains 1 CRIB domain. Contains 1 WH1 domain. Contains 2 WH2 domains. actin cortical patch assembly actin binding protein binding nucleus cytoplasm cytosol cytoskeleton actin filament plasma membrane endocytosis membrane budding actin filament organization cell cycle actin polymerization or depolymerization response to bacterium actin cytoskeleton vesicle organization lamellipodium actin cytoskeleton organization actin filament polymerization actin filament-based movement vesicle transport along actin filament actin cap actin cortical patch endocytic vesicle membrane GTPase regulator activity cytoplasmic vesicle regulation of protein localization cellular protein complex localization Fc-gamma receptor signaling pathway involved in phagocytosis positive regulation of transcription from RNA polymerase II promoter ephrin receptor signaling pathway regulation of nitric-oxide synthase activity actin filament binding cell division positive regulation of filopodium assembly spindle localization actin cortical patch localization dendritic spine morphogenesis membrane organization macromolecular complex assembly extracellular exosome negative regulation of membrane tubulation positive regulation of clathrin-dependent endocytosis negative regulation of lymphocyte migration positive regulation of Arp2/3 complex-mediated actin nucleation uc003vkz.1 uc003vkz.2 uc003vkz.3 uc003vkz.4 uc003vkz.5 uc003vkz.6 
ENST00000223026.9 HYAL4 ENST00000223026.9 Homo sapiens hyaluronidase 4 (HYAL4), mRNA. (from RefSeq NM_012269) D0VXG1 ENST00000223026.1 ENST00000223026.2 ENST00000223026.3 ENST00000223026.4 ENST00000223026.5 ENST00000223026.6 ENST00000223026.7 ENST00000223026.8 HYAL4_HUMAN NM_012269 Q2M3T9 Q9UL99 Q9Y6T9 uc003vlc.1 uc003vlc.2 uc003vlc.3 uc003vlc.4 uc003vlc.5 This gene encodes a protein which is similar in structure to hyaluronidases but lacks hyaluronidase activity. The encoded protein acts as a chondroitin-sulfate-specific endo-beta-N-acetylgalactosaminidase; that is, it exhibits hydrolytic activity toward chondroitin sulfate chains and degrades them into oligosaccharides. Proteoglycans are formed by the covalent linkage of chondroitin sulfate chains to protein. Proteoglycans are ubiquitous components of the extracellular matrix of connective tissues and are also found at the surface of many cell types where they participate in a variety of cellular processes such as cell proliferation, differentiation, migration, cell-cell recognition, extracellular matrix deposition, and tissue morphogenesis. The expression of this gene is highest in testes and placenta. [provided by RefSeq, Apr 2019]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. ##Evidence-Data-START## CDS exon combination :: AB470346.1, BC104790.1 [ECO:0000331] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223026.9/ ENSP00000223026.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Endo-hyaluronidase that degrades hyaluronan to smaller oligosaccharide fragments. Has also chondroitin sulfate hydrolase activity, The best substrate being the galactosaminidic linkage in the sequence of a trisulfated tetrasaccharide. Random hydrolysis of (1->4)-linkages between N-acetyl-beta-D-glucosamine and D-glucuronate residues in hyaluronate. pH dependence: Optimum pH is 4.5-5 (for chondroitin sulfate hydrolase activity); Temperature dependence: Optimum temperature is 37 degrees Celsius; Membrane; Multi-pass membrane protein (Potential). Detected in placenta and skeletal muscle. Belongs to the glycosyl hydrolase 56 family. catalytic activity hyalurononglucosaminidase activity carbohydrate metabolic process glycosaminoglycan catabolic process metabolic process cell surface membrane integral component of membrane hydrolase activity hydrolase activity, acting on glycosyl bonds chondroitin sulfate catabolic process uc003vlc.1 uc003vlc.2 uc003vlc.3 uc003vlc.4 uc003vlc.5 
ENST00000223029.8 AIMP2 ENST00000223029.8 Homo sapiens aminoacyl tRNA synthetase complex interacting multifunctional protein 2 (AIMP2), transcript variant 1, mRNA. (from RefSeq NM_006303) AIMP2_HUMAN ENST00000223029.1 ENST00000223029.2 ENST00000223029.3 ENST00000223029.4 ENST00000223029.5 ENST00000223029.6 ENST00000223029.7 JTV1 NM_006303 PRO0992 Q13155 Q75MR1 Q96CZ5 Q9P1L2 uc003spo.1 uc003spo.2 uc003spo.3 uc003spo.4 uc003spo.5 The protein encoded by this gene is part of the aminoacyl-tRNA synthetase complex, which contains nine different aminoacyl-tRNA synthetases and three non-enzymatic factors. The encoded protein is one of the non-enzymatic factors and is required for assembly and stability of the complex. [provided by RefSeq, May 2016]. Required for assembly and stability of the aminoacyl- tRNA synthase complex. Mediates ubiquitination and degradation of FUBP1, a transcriptional activator of MYC, leading to MYC down- regulation which is required for aveolar type II cell differentiation. Blocks MDM2-mediated ubiquitination and degradation of p53/TP53. Functions as a proapoptotic factor. Component of the aminoacyl-tRNA synthase complex which is comprised of a bifunctional glutamyl-prolyl-tRNA synthase, the monospecific isoleucyl, leucyl, glutaminyl, methionyl, lysyl, arginyl and aspartyl-tRNA synthases, and three auxiliary proteins, EEF1E1/p18, AIMP2/p38 and AIMP1/p43. Binds FUBP1 (via C-terminus). Interacts in both its unphosphorylated and phosphorylated forms with p53/TP53 (via N-terminus) in the nucleus following UV irradiation. Interacts (via N-terminus) with KARS and PARK2/parkin (via first RING-type domain). Q0VDD7:C19orf57; NbExp=4; IntAct=EBI-745226, EBI-741210; P04591:gag (xeno); NbExp=3; IntAct=EBI-745226, EBI-6179719; Cytoplasm, cytosol (By similarity). Nucleus (By similarity). Note=Following DNA damage, dissociates from the aminoacyl-tRNA synthase complex and translocates from the cytoplasm to the nucleus (By similarity). Phosphorylated on serine residues in response to UV irradiation (By similarity). Ubiquitinated by PARK2, leading to its degradation by the proteasome. Mutant PARK2 fails to ubiquitinate AIMP2 efficiently, allowing its accumulation which may contribute to neurodegeneration associated with Parkinson disease. Accumulates in brains affected by autosomal- recessive juvenile parkinsonism, idiopathic Parkinson disease and diffuse Lewy body disease. Contains 1 GST C-terminal domain. Sequence=AAC50391.1; Type=Frameshift; Positions=312; protein binding nucleus cytoplasm cytosol translation tRNA aminoacylation for protein translation apoptotic process multicellular organism development negative regulation of cell proliferation membrane aminoacyl-tRNA synthetase multienzyme complex cell differentiation positive regulation of protein ubiquitination binding, bridging Type II pneumocyte differentiation macromolecular complex assembly positive regulation of neuron death positive regulation of aminoacyl-tRNA ligase activity uc003spo.1 uc003spo.2 uc003spo.3 uc003spo.4 uc003spo.5 
ENST00000223054.8 MOSPD3 ENST00000223054.8 Homo sapiens motile sperm domain containing 3 (MOSPD3), transcript variant 2, mRNA. (from RefSeq NM_001040097) A4D2D1 A6NG17 C9JE89 D6W5W1 ENST00000223054.1 ENST00000223054.2 ENST00000223054.3 ENST00000223054.4 ENST00000223054.5 ENST00000223054.6 ENST00000223054.7 MSPD3_HUMAN NM_001040097 O75423 O75424 O75425 uc003uvq.1 uc003uvq.2 uc003uvq.3 uc003uvq.4 This gene encodes a multi-pass membrane protein with a major sperm protein (MSP) domain. The deletion of a similar mouse gene is associated with defective cardiac development and neonatal lethality. Alternate transcriptional splice variants, encoding different isoforms, have been described. [provided by RefSeq, Jul 2008]. Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=O75425-1; Sequence=Displayed; Name=2; IsoId=O75425-2; Sequence=VSP_014053; Note=Gene prediction confirmed by EST data; Name=3; IsoId=O75425-3; Sequence=VSP_014054, VSP_014055; Note=Gene prediction confirmed by EST data; Name=4; IsoId=O75425-4; Sequence=VSP_044522; Note=Gene prediction confirmed by EST data; Contains 1 MSP domain. endoplasmic reticulum membrane plasma membrane heart development membrane integral component of membrane FFAT motif binding endoplasmic reticulum-plasma membrane tethering endoplasmic reticulum membrane organization uc003uvq.1 uc003uvq.2 uc003uvq.3 uc003uvq.4 
ENST00000223061.6 PCOLCE ENST00000223061.6 Homo sapiens procollagen C-endopeptidase enhancer (PCOLCE), mRNA. (from RefSeq NM_002593) B2R9E1 ENST00000223061.1 ENST00000223061.2 ENST00000223061.3 ENST00000223061.4 ENST00000223061.5 NM_002593 O14550 PCOC1_HUMAN PCPE1 Q15113 uc003uvo.1 uc003uvo.2 uc003uvo.3 uc003uvo.4 uc003uvo.5 uc003uvo.6 Fibrillar collagen types I-III are synthesized as precursor molecules known as procollagens. These precursors contain amino- and carboxyl-terminal peptide extensions known as N- and C-propeptides, respectively, which are cleaved, upon secretion of procollagen from the cell, to yield the mature triple helical, highly structured fibrils. This gene encodes a glycoprotein which binds and drives the enzymatic cleavage of type I procollagen and heightens C-proteinase activity. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189664.72099.1, BC000574.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223061.6/ ENSP00000223061.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Binds to the C-terminal propeptide of type I procollagen and enhances procollagen C-proteinase activity. C-terminal processed part of PCPE (CT-PCPE) may have an metalloproteinase inhibitory activity. Secreted. C-terminally processed at multiple positions. Contains 2 CUB domains. Contains 1 NTR domain. extracellular matrix structural constituent protein binding collagen binding extracellular region extracellular space proteolysis multicellular organism development heparin binding positive regulation of peptidase activity peptidase activator activity extracellular exosome cellular response to leukemia inhibitory factor uc003uvo.1 uc003uvo.2 uc003uvo.3 uc003uvo.4 uc003uvo.5 uc003uvo.6 
ENST00000223073.6 RBM28 ENST00000223073.6 Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA. (from RefSeq NM_018077) A4D100 ENST00000223073.1 ENST00000223073.2 ENST00000223073.3 ENST00000223073.4 ENST00000223073.5 NM_018077 Q53H65 Q96CV3 Q9NW13 RBM28_HUMAN uc031szb.1 uc031szb.2 The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK001239.1, SRR3476690.231180.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223073.6/ ENSP00000223073.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Nucleolar component of the spliceosomal ribonucleoprotein complexes. Interacts with U1, U2, U4, U5, and U6 spliceosomal small nuclear RNAs (snRNAs). Nucleus, nucleolus. Ubiquitously expressed. Defects in RBM28 are the cause of alopecia neurologic defects and endocrinopathy syndrome (ANES) [MIM:612079]. Affected individuals have hair loss of variable severity, ranging from complete alopecia to near-normal scalp hair with absence of body hair. All have moderate to severe mental retardation, progressive motor deterioration and central hypogonadotropic hypogonadism with delayed or absent puberty and central adrenal insufficiency. Additional features included short stature, microcephaly, gynecomastia, pigmentary anomalies, hypodontia, kyphoscoliosis, ulnar deviation of the hands, and loss of subcutaneous fat. Contains 4 RRM (RNA recognition motif) domains. nucleic acid binding RNA binding nucleus spliceosomal complex nucleolus mRNA processing RNA splicing ribonucleoprotein complex uc031szb.1 uc031szb.2 
ENST00000223095.5 SERPINE1 ENST00000223095.5 Serine protease inhibitor. This inhibitor acts as 'bait' for tissue plasminogen activator, urokinase, protein C and matriptase-3/TMPRSS7. Its rapid interaction with PLAT may function as a major control point in the regulation of fibrinolysis. (from UniProt P05121) ENST00000223095.1 ENST00000223095.2 ENST00000223095.3 ENST00000223095.4 NM_001386466 P05121 PAI1 PAI1_HUMAN PLANH1 uc003uxt.1 uc003uxt.2 uc003uxt.3 uc003uxt.4 uc003uxt.5 Serine protease inhibitor. This inhibitor acts as 'bait' for tissue plasminogen activator, urokinase, protein C and matriptase-3/TMPRSS7. Its rapid interaction with PLAT may function as a major control point in the regulation of fibrinolysis. Forms protease inhibiting heterodimer with TMPRSS7. Interacts with VTN. Binds LRP1B; binding is followed by internalization and degradation. P02763:ORM1; NbExp=4; IntAct=EBI-953978, EBI-976767; Secreted. Found in plasma and platelets and in endothelial, hepatoma and fibrosarcoma cells. Inactivated by proteolytic attack of the urokinase-type (u- PA) and the tissue-type (TPA), cleaving the 369-Arg-|-Met-370 bond. Defects in SERPINE1 are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1D) [MIM:613329]. It is a hematologic disorder characterized by increased bleeding after trauma, injury, or surgery. Affected females have menorrhagia. The bleeding defect is due to increased fibrinolysis of fibrin blood clots due to deficiency of plasminogen activator inhibitor-1, which inhibits tissue and urinary activators of plasminogen. Note=High concentrations of SERPINE1 seem to contribute to the development of venous but not arterial occlusions. Belongs to the serpin family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SERPINE1"; Name=Wikipedia; Note=Plasminogen activator inhibitor-1 entry; URL="http://en.wikipedia.org/wiki/Plasminogen_activator_inhibitor-1"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/serpine1/"; chronological cell aging angiogenesis protease binding platelet degranulation serine-type endopeptidase inhibitor activity receptor binding protein binding extracellular region extracellular space plasma membrane circadian rhythm negative regulation of peptidase activity regulation of receptor activity negative regulation of plasminogen activation negative regulation of endopeptidase activity negative regulation of smooth muscle cell migration positive regulation of blood coagulation negative regulation of blood coagulation extracellular matrix organization negative regulation of cell migration peptidase inhibitor activity platelet alpha granule lumen positive regulation of interleukin-8 production negative regulation of cell adhesion mediated by integrin positive regulation of leukotriene production involved in inflammatory response fibrinolysis positive regulation of angiogenesis positive regulation of transcription from RNA polymerase II promoter positive regulation of receptor-mediated endocytosis positive regulation of inflammatory response defense response to Gram-negative bacterium negative regulation of fibrinolysis negative regulation of vascular wound healing negative regulation of wound healing extracellular exosome cellular response to lipopolysaccharide positive regulation of monocyte chemotaxis replicative senescence dentinogenesis positive regulation of odontoblast differentiation negative regulation of extrinsic apoptotic signaling pathway via death domain receptors negative regulation of smooth muscle cell-matrix adhesion negative regulation of endothelial cell apoptotic process uc003uxt.1 uc003uxt.2 uc003uxt.3 uc003uxt.4 uc003uxt.5 
ENST00000223114.9 MOGAT3 ENST00000223114.9 Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), transcript variant 1, mRNA. (from RefSeq NM_178176) DC7 DGAT2L7 ENST00000223114.1 ENST00000223114.2 ENST00000223114.3 ENST00000223114.4 ENST00000223114.5 ENST00000223114.6 ENST00000223114.7 ENST00000223114.8 MOGT3_HUMAN NM_178176 Q496A6 Q496A7 Q496A8 Q86VF5 Q9UDW7 UNQ9383/PRO34208 uc003uyc.1 uc003uyc.2 uc003uyc.3 uc003uyc.4 uc003uyc.5 uc003uyc.6 Acyl-CoA:monoacylglycerol acyltransferase (MOGAT; EC 2.3.1.22) catalyzes the synthesis of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA (Cheng et al., 2003 [PubMed 12618427]).[supplied by OMIM, Mar 2008]. Catalyzes the formation of diacylglycerol from 2- monoacylglycerol and fatty acyl-CoA. Also able to catalyze the terminal step in triacylglycerol synthesis by using diacylglycerol and fatty acyl-CoA as substrates. Has a preference toward palmitoyl-CoA and oleoyl-CoA. May be involved in absorption of dietary fat in the small intestine by catalyzing the resynthesis of triacylglycerol in enterocytes. Acyl-CoA + 2-acylglycerol = CoA + diacylglycerol. Acyl-CoA + 1,2-diacylglycerol = CoA + triacylglycerol. Kinetic parameters: Vmax=9.3 nmol/min/mg enzyme with diacylglycerol as substrate; Vmax=22.8 nmol/min/mg enzyme with 2-monoacylglycerol as substrate; Glycerolipid metabolism; triacylglycerol biosynthesis. Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q86VF5-1; Sequence=Displayed; Name=2; IsoId=Q86VF5-2; Sequence=VSP_020361, VSP_020362; Note=No experimental confirmation available; Name=3; IsoId=Q86VF5-3; Sequence=VSP_020363; Note=No experimental confirmation available; Selectively expressed in the digestive system. Highly expressed in the ileum, and at lower level in jejunum, duodenum, colon, cecum and the rectum. Not expressed in the stomach and the esophagus and trachea. Expressed at very low level in liver. Belongs to the diacylglycerol acyltransferase family. Sequence=AAD45832.1; Type=Erroneous gene model prediction; 2-acylglycerol O-acyltransferase activity diacylglycerol O-acyltransferase activity cytoplasm endoplasmic reticulum endoplasmic reticulum membrane glycerol metabolic process lipid metabolic process membrane integral component of membrane transferase activity transferase activity, transferring acyl groups transferase activity, transferring acyl groups other than amino-acyl groups triglyceride biosynthetic process perinuclear region of cytoplasm perinuclear endoplasmic reticulum membrane uc003uyc.1 uc003uyc.2 uc003uyc.3 uc003uyc.4 uc003uyc.5 uc003uyc.6 
ENST00000223127.8 PLOD3 ENST00000223127.8 Homo sapiens procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA. (from RefSeq NM_001084) B2R6W6 ENST00000223127.1 ENST00000223127.2 ENST00000223127.3 ENST00000223127.4 ENST00000223127.5 ENST00000223127.6 ENST00000223127.7 NM_001084 O60568 PLOD3_HUMAN Q540C3 uc003uyd.1 uc003uyd.2 uc003uyd.3 uc003uyd.4 uc003uyd.5 The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC011674.2, AK075338.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223127.8/ ENSP00000223127.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links. L-lysine-[procollagen] + 2-oxoglutarate + O(2) = (2S,5R)-5-hydroxy-L-lysine-[procollagen] + succinate + CO(2). Iron. Ascorbate. Homodimer. Q9BQY4:RHOXF2; NbExp=2; IntAct=EBI-741582, EBI-372094; Rough endoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side. Defects in PLOD3 are the cause of lysyl hydroxylase 3 deficiency (LH3 deficiency) [MIM:612394]; also known as bone fragility with contractures arterial rupture and deafness. LH3 deficiency is a connective tissue disorder. The syndrome is characterized by congenital malformations severely affecting many tissues and organs and revealing features of several collagen disorders, most of them involving COL2A1 (type II collagen). The findings suggest that the failure of lysyl hydroxylation and hydroxylysyl carbohydrate addition, which affects many collagens, is the molecular basis of this syndrome. Contains 1 Fe2OG dioxygenase domain. in utero embryonic development endothelial cell morphogenesis catalytic activity iron ion binding protein binding extracellular region extracellular space endoplasmic reticulum endoplasmic reticulum lumen endoplasmic reticulum membrane rough endoplasmic reticulum Golgi apparatus trans-Golgi network protein O-linked glycosylation protein localization metabolic process procollagen-lysine 5-dioxygenase activity membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen transferase activity transferase activity, transferring glycosyl groups peptidyl-lysine hydroxylation neural tube development collagen fibril organization L-ascorbic acid binding cellular response to hormone stimulus collagen metabolic process procollagen glucosyltransferase activity vasodilation metal ion binding hydroxylysine biosynthetic process epidermis morphogenesis procollagen galactosyltransferase activity dioxygenase activity oxidation-reduction process lung morphogenesis extracellular exosome basement membrane assembly uc003uyd.1 uc003uyd.2 uc003uyd.3 uc003uyd.4 uc003uyd.5 
ENST00000223129.8 RPA3 ENST00000223129.8 Homo sapiens replication protein A3 (RPA3), mRNA. (from RefSeq NM_002947) ENST00000223129.1 ENST00000223129.2 ENST00000223129.3 ENST00000223129.4 ENST00000223129.5 ENST00000223129.6 ENST00000223129.7 NM_002947 P35244 Q549U6 REPA3 RFA3_HUMAN RPA14 uc003sri.1 uc003sri.2 uc003sri.3 uc003sri.4 Required for DNA recombination, repair and replication. The activity of RP-A is mediated by single-stranded DNA binding and protein interactions. Functions as component of the alternative replication protein A complex (aRPA). aRPA binds single-stranded DNA and probably plays a role in DNA repair; it does not support chromosomal DNA replication and cell cycle progression through S- phase. In vitro, aRPA cannot promote efficient priming by DNA polymerase alpha but supports DNA polymerase delta synthesis in the presence of PCNA and replication factor C (RFC), the dual incision/excision reaction of nucleotide excision repair and RAD51-dependent strand exchange. Heterotrimer of 70, 32 and 14 kDa chains (canonical replication protein A complex). Component of the alternative replication protein A complex (aRPA) composed of RPA1, RPA3 and RPA4. The DNA-binding activity may reside exclusively on the 70 kDa subunit. Interacts with RPA4. P43351:RAD52; NbExp=2; IntAct=EBI-621428, EBI-706448; P27694:RPA1; NbExp=4; IntAct=EBI-621428, EBI-621389; P15927:RPA2; NbExp=3; IntAct=EBI-621428, EBI-621404; Nucleus. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/rpa3/"; G1/S transition of mitotic cell cycle telomere maintenance double-strand break repair via homologous recombination DNA binding damaged DNA binding single-stranded DNA binding protein binding nucleus nucleoplasm DNA replication factor A complex DNA replication DNA repair transcription-coupled nucleotide-excision repair base-excision repair nucleotide-excision repair nucleotide-excision repair, preincision complex stabilization nucleotide-excision repair, preincision complex assembly nucleotide-excision repair, DNA incision, 3'-to lesion nucleotide-excision repair, DNA incision, 5'-to lesion nucleotide-excision repair, DNA gap filling mismatch repair DNA recombination cellular response to DNA damage stimulus regulation of mitotic cell cycle translesion synthesis telomere maintenance via semi-conservative replication nucleotide-excision repair, DNA incision site of double-strand break interstrand cross-link repair regulation of cell proliferation error-prone translesion synthesis DNA damage response, detection of DNA damage error-free translesion synthesis regulation of cellular response to heat regulation of signal transduction by p53 class mediator uc003sri.1 uc003sri.2 uc003sri.3 uc003sri.4 
ENST00000223136.5 FIS1 ENST00000223136.5 Homo sapiens fission, mitochondrial 1 (FIS1), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_016068) CGI-135 ENST00000223136.1 ENST00000223136.2 ENST00000223136.3 ENST00000223136.4 FIS1_HUMAN NM_016068 Q9BTP3 Q9Y3D6 TTC11 uc003uyj.1 uc003uyj.2 uc003uyj.3 uc003uyj.4 uc003uyj.5 uc003uyj.6 The balance between fission and fusion regulates the morphology of mitochondria. TTC11 is a component of a mitochondrial complex that promotes mitochondrial fission (James et al., 2003 [PubMed 12783892]).[supplied by OMIM, Mar 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.347142.1, SRR1163655.172599.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03465403 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000223136.5/ ENSP00000223136.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Promotes the fragmentation of the mitochondrial network and its perinuclear clustering. Can induce cytochrome c release from the mitochondrion to the cytosol, ultimately leading to apoptosis. Also mediates peroxisomal fission. Interacts with DNM1L/DLP1 through the TPR region. Interacts with MARCH5. Interacts with MID51. P51572:BCAP31; NbExp=8; IntAct=EBI-3385283, EBI-77683; Mitochondrion outer membrane; Single-pass membrane protein. Peroxisome membrane; Single-pass membrane protein. The C-terminus is required for mitochondrial or peroxisomal localization, while the N-terminus is necessary for mitochondrial or peroxisomal fission, localization and regulation of the interaction with DNM1L. Ubiquitinated by MARCH5. Belongs to the FIS1 family. Contains 1 TPR repeat. mitochondrial fission mitophagy release of cytochrome c from mitochondria protein binding mitochondrion mitochondrial outer membrane peroxisome peroxisomal membrane integral component of peroxisomal membrane endoplasmic reticulum protein targeting to mitochondrion apoptotic process positive regulation of cytosolic calcium ion concentration mitochondrial fusion regulation of mitochondrion organization response to muscle activity membrane integral component of membrane peroxisome fission integral component of mitochondrial outer membrane response to nutrient levels negative regulation of endoplasmic reticulum calcium ion concentration macromolecular complex calcium-mediated signaling using intracellular calcium source positive regulation of cysteine-type endopeptidase activity involved in apoptotic process positive regulation of neuron apoptotic process mitochondrial fragmentation involved in apoptotic process macromolecular complex binding protein homooligomerization positive regulation of mitochondrial calcium ion concentration mitochondrion morphogenesis cellular response to glucose stimulus cellular response to lipid positive regulation of mitochondrial fission positive regulation of protein targeting to membrane cellular response to toxic substance cellular response to peptide response to fluoride cellular response to thapsigargin response to flavonoid response to hypobaric hypoxia positive regulation of intrinsic apoptotic signaling pathway uc003uyj.1 uc003uyj.2 uc003uyj.3 uc003uyj.4 uc003uyj.5 uc003uyj.6 
ENST00000223145.10 GLCCI1 ENST00000223145.10 Homo sapiens glucocorticoid induced 1 (GLCCI1), mRNA. (from RefSeq NM_138426) A4D103 ENST00000223145.1 ENST00000223145.2 ENST00000223145.3 ENST00000223145.4 ENST00000223145.5 ENST00000223145.6 ENST00000223145.7 ENST00000223145.8 ENST00000223145.9 GLCI1_HUMAN NM_138426 Q86VQ1 Q96FD0 uc003srk.1 uc003srk.2 uc003srk.3 uc003srk.4 uc003srk.5 uc003srk.6 This gene encodes a protein of unknown function. Expression of this gene is induced by glucocorticoids and may be an early marker for glucocorticoid-induced apoptosis. Single nucleotide polymorphisms in this gene are associated with a decreased response to inhaled glucocorticoids in asthmatic patients. [provided by RefSeq, Feb 2012]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC050291.1, SRR1163657.376342.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223145.10/ ENSP00000223145.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Predominantly expressed in lung, spleen, thymus and testis and, at lower levels, in brain, bone marrow, peripheral leukocytes, skin and trachea. Polymorphisms dbSNP:rs37972 and dbSNP:rs37973, located in GLCCI1 promoter region, are associated with a decreased response to glucorticoid treatment [MIM:614400] in asthma patients (PubMed:21991891), as well as in chronic obstructive pulmonary disease patients (PubMed:22187997). The mean increase in forced expiratory volume in 1 second in glucorticoid treated subjects who are homozygous for the mutant (G) rs37973 allele is only about one-third of that seen in similarly treated subjects who are homozygous for the wild-type allele (A) (PubMed:21991891). These polymorphisms affect GLCCI1 transcription level. cytoplasm uc003srk.1 uc003srk.2 uc003srk.3 uc003srk.4 uc003srk.5 uc003srk.6 
ENST00000223208.10 CEP41 ENST00000223208.10 Homo sapiens centrosomal protein 41 (CEP41), transcript variant 5, non-coding RNA. (from RefSeq NR_046443) A4D1M0 B4DQ35 CEP41_HUMAN ENST00000223208.1 ENST00000223208.2 ENST00000223208.3 ENST00000223208.4 ENST00000223208.5 ENST00000223208.6 ENST00000223208.7 ENST00000223208.8 ENST00000223208.9 F5H0V6 NR_046443 Q7Z496 Q86TM1 Q8NFU8 Q9BYV8 Q9H6A3 Q9NPV3 TSGA14 uc003vpz.1 uc003vpz.2 uc003vpz.3 uc003vpz.4 uc003vpz.5 uc003vpz.6 This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]. Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating to the transport of TTLL6, a tubulin polyglutamylase, between the basal body and the cilium. Found in a complex with TTLL6. Cytoplasm, cytoskeleton, centrosome. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes mainly to the cilium basal body and in primary cilia. Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=L-type; IsoId=Q9BYV8-1; Sequence=Displayed; Name=2; IsoId=Q9BYV8-2; Sequence=VSP_012248; Name=3; IsoId=Q9BYV8-3; Sequence=VSP_012245; Name=4; Synonyms=S-type; IsoId=Q9BYV8-4; Sequence=VSP_012246, VSP_012247; Name=5; IsoId=Q9BYV8-5; Sequence=VSP_042579, VSP_012248; Note=No experimental confirmation available; Isoform 1 and isoform 4 are expressed in testis and fetal tissues. Although it contains a rhodanese domain, does not display phosphatase activity, suggesting that the protein is enzymatically inactive (PubMed:22246503). Defects in CEP41 are the cause of Joubert syndrome type 15 (JBTS15) [MIM:614464]. JBTS15 is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis and polydactyly. Note=Genetic variations in CEP41 may be associated with susceptibility to autism. Belongs to the CEP41 family. Contains 1 rhodanese domain. G2/M transition of mitotic cell cycle protein binding cytoplasm centrosome centriole microtubule organizing center cytosol cytoskeleton cilium regulation of G2/M transition of mitotic cell cycle protein transport membrane protein polyglutamylation cell projection organization ciliary basal body cell projection cilium assembly ciliary basal body docking uc003vpz.1 uc003vpz.2 uc003vpz.3 uc003vpz.4 uc003vpz.5 uc003vpz.6 
ENST00000223210.5 ZNF862 ENST00000223210.5 Homo sapiens zinc finger protein 862 (ZNF862), mRNA. (from RefSeq NM_001099220) A0AUL8 ENST00000223210.1 ENST00000223210.2 ENST00000223210.3 ENST00000223210.4 KIAA0543 NM_001099220 O60290 ZN862_HUMAN uc010lpn.1 uc010lpn.2 uc010lpn.3 uc010lpn.4 uc010lpn.5 May be involved in transcriptional regulation (By similarity). Nucleus (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O60290-1; Sequence=Displayed; Name=2; IsoId=O60290-2; Sequence=VSP_031702, VSP_031703; Note=No experimental confirmation available; Contains 2 KRAB domains. Contains 2 TTF-type zinc fingers. molecular_function nucleic acid binding cellular_component nucleus regulation of transcription, DNA-templated biological_process metal ion binding protein dimerization activity uc010lpn.1 uc010lpn.2 uc010lpn.3 uc010lpn.4 uc010lpn.5 
ENST00000223271.8 RARRES2 ENST00000223271.8 Homo sapiens retinoic acid receptor responder 2 (RARRES2), mRNA. (from RefSeq NM_002889) ENST00000223271.1 ENST00000223271.2 ENST00000223271.3 ENST00000223271.4 ENST00000223271.5 ENST00000223271.6 ENST00000223271.7 NM_002889 Q7LE02 Q99969 RARR2_HUMAN TIG2 uc003wha.1 uc003wha.2 uc003wha.3 uc003wha.4 uc003wha.5 This gene encodes a secreted chemotactic protein that initiates chemotaxis via the ChemR23 G protein-coupled seven-transmembrane domain ligand. Expression of this gene is upregulated by the synthetic retinoid tazarotene and occurs in a wide variety of tissues. The active protein has several roles, including that as an adipokine and as an antimicrobial protein with activity against bacteria and fungi. [provided by RefSeq, Nov 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U77594.2, BI824025.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223271.8/ ENSP00000223271.3 Protein has antimicrobial activity :: PMID: 24660117 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Secreted (Potential). Highly expressed in skin (basal and suprabasal layers of the epidermis, hair follicles and endothelial cells). Also found in pancreas, liver, spleen, prostate, ovary, small intestine and colon. Inhibited in psoriatic lesions. Activated by tazarotene in skin rafts and in the epidermis of psoriatic lesions. retinoid metabolic process positive regulation of protein phosphorylation platelet degranulation receptor binding protein binding extracellular region extracellular space chemotaxis inflammatory response insulin receptor signaling pathway positive regulation of macrophage chemotaxis antifungal humoral response cell differentiation platelet dense granule lumen innate immune response positive regulation of fat cell differentiation embryonic digestive tract development defense response to Gram-negative bacterium defense response to Gram-positive bacterium positive regulation of chemotaxis regulation of lipid catabolic process antifungal innate immune response uc003wha.1 uc003wha.2 uc003wha.3 uc003wha.4 uc003wha.5 
ENST00000223273.7 YAE1 ENST00000223273.7 Homo sapiens YAE1 maturation factor of ABCE1 (YAE1), transcript variant 1, mRNA. (from RefSeq NM_020192) A4D1W4 C7orf36 ENST00000223273.1 ENST00000223273.2 ENST00000223273.3 ENST00000223273.4 ENST00000223273.5 ENST00000223273.6 GK003 NM_020192 Q6IAF7 Q8WVZ5 Q9NRH1 YAE1D1 YAED1_HUMAN uc003thc.1 uc003thc.2 uc003thc.3 uc003thc.4 uc003thc.5 uc003thc.6 nucleus cytoplasm uc003thc.1 uc003thc.2 uc003thc.3 uc003thc.4 uc003thc.5 uc003thc.6 
ENST00000223293.10 GIMAP2 ENST00000223293.10 Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA. (from RefSeq NM_015660) ENST00000223293.1 ENST00000223293.2 ENST00000223293.3 ENST00000223293.4 ENST00000223293.5 ENST00000223293.6 ENST00000223293.7 ENST00000223293.8 ENST00000223293.9 GIMA2_HUMAN IMAP2 NM_015660 Q96L25 Q9UG22 uc003who.1 uc003who.2 uc003who.3 uc003who.4 uc003who.5 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.375681.1, SRR1163655.551100.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223293.10/ ENSP00000223293.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Monomer in the presence of bound GDP and in the absence of bound nucleotide. Homodimer in the presence of bound GTP. Can form linear oligomers. Membrane; Multi-pass membrane protein (Potential). Cytoplasm. Note=Detected on the surface of cytoplasmic lipid droplets. Belongs to the IAN GTP-binding protein family. nucleotide binding protein binding GTP binding endoplasmic reticulum lipid particle identical protein binding uc003who.1 uc003who.2 uc003who.3 uc003who.4 uc003who.5 
ENST00000223321.9 PSMA2 ENST00000223321.9 Homo sapiens proteasome 20S subunit alpha 2 (PSMA2), mRNA. (from RefSeq NM_002787) ENST00000223321.1 ENST00000223321.2 ENST00000223321.3 ENST00000223321.4 ENST00000223321.5 ENST00000223321.6 ENST00000223321.7 ENST00000223321.8 HC3 NM_002787 P25787 PSA2_HUMAN PSC3 Q6ICS6 Q9BU45 uc003thy.1 uc003thy.2 uc003thy.3 uc003thy.4 uc003thy.5 uc003thy.6 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1082236.1, SRR3476690.13824.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223321.9/ ENSP00000223321.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. PSMA2 may have a potential regulatory effect on another component(s) of the proteasome complex through tyrosine phosphorylation. Cleavage of peptide bonds with very broad specificity. The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits. The 20S proteasome core is composed of 28 subunits that are arranged in four stacked rings, resulting in a barrel-shaped structure. The two end rings are each formed by seven alpha subunits, and the two central rings are each formed by seven beta subunits. The catalytic chamber with the active sites is on the inside of the barrel. P25786:PSMA1; NbExp=5; IntAct=EBI-603262, EBI-359352; P25789:PSMA4; NbExp=6; IntAct=EBI-603262, EBI-359310; P60900:PSMA6; NbExp=3; IntAct=EBI-603262, EBI-357793; O14818:PSMA7; NbExp=2; IntAct=EBI-603262, EBI-603272; Cytoplasm. Nucleus. Down-regulated by antioxidants BO-653 and probucol. Down-regulated in response to enterovirus 71 (EV71) infection (at protein level). Phosphorylated on tyrosine residues; which may be important for nuclear import (By similarity). Belongs to the peptidase T1A family. MAPK cascade protein polyubiquitination proteasome complex P-body stimulatory C-type lectin receptor signaling pathway antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent endopeptidase activity threonine-type endopeptidase activity protein binding extracellular region nucleus nucleoplasm cytoplasm cytosol proteasome core complex proteolysis ubiquitin-dependent protein catabolic process regulation of cellular amino acid metabolic process peptidase activity response to virus proteasomal protein catabolic process proteasomal ubiquitin-independent protein catabolic process negative regulation of G2/M transition of mitotic cell cycle protein deubiquitination hydrolase activity proteasome core complex, alpha-subunit complex anaphase-promoting complex-dependent catabolic process SCF-dependent proteasomal ubiquitin-dependent protein catabolic process tumor necrosis factor-mediated signaling pathway secretory granule lumen NIK/NF-kappaB signaling Fc-epsilon receptor signaling pathway proteasome-mediated ubiquitin-dependent protein catabolic process neutrophil degranulation regulation of mRNA stability post-translational protein modification T cell receptor signaling pathway proteolysis involved in cellular protein catabolic process transmembrane transport Wnt signaling pathway, planar cell polarity pathway regulation of transcription from RNA polymerase II promoter in response to hypoxia extracellular exosome interleukin-1-mediated signaling pathway negative regulation of canonical Wnt signaling pathway positive regulation of canonical Wnt signaling pathway regulation of mitotic cell cycle phase transition regulation of hematopoietic stem cell differentiation ficolin-1-rich granule lumen uc003thy.1 uc003thy.2 uc003thy.3 uc003thy.4 uc003thy.5 uc003thy.6 
ENST00000223324.3 MRPL32 ENST00000223324.3 Homo sapiens mitochondrial ribosomal protein L32 (MRPL32), transcript variant 2, non-coding RNA. (from RefSeq NR_156497) ENST00000223324.1 ENST00000223324.2 HSPC283 NR_156497 Q96Q68 Q9BYC8 Q9P098 RM32_HUMAN uc003tia.1 uc003tia.2 uc003tia.3 uc003tia.4 uc003tia.5 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L32 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome Xp. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR5189664.50406.1, AW379023.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## Mitochondrion. Belongs to the ribosomal protein L32P family. RNA binding structural constituent of ribosome mitochondrion mitochondrial inner membrane mitochondrial ribosome mitochondrial large ribosomal subunit ribosome translation large ribosomal subunit mitochondrial translational elongation mitochondrial translational termination uc003tia.1 uc003tia.2 uc003tia.3 uc003tia.4 uc003tia.5 
ENST00000223336.11 COA1 ENST00000223336.11 Homo sapiens cytochrome c oxidase assembly factor 1 homolog (COA1), transcript variant 39, non-coding RNA. (from RefSeq NR_163915) A6NJU8 A8KAH8 C7orf44 COA1_HUMAN ENST00000223336.1 ENST00000223336.10 ENST00000223336.2 ENST00000223336.3 ENST00000223336.4 ENST00000223336.5 ENST00000223336.6 ENST00000223336.7 ENST00000223336.8 ENST00000223336.9 NR_163915 Q9GZY4 Q9HAB7 Q9NVD2 uc003tin.1 uc003tin.2 uc003tin.3 Interacts with COX17 and C1orf31. Mitochondrion membrane; Single-pass membrane protein. Belongs to the COA1 family. mitochondrion mitochondrial inner membrane cytosol membrane integral component of membrane integral component of mitochondrial inner membrane mitochondrial respiratory chain complex I assembly mitochondrial respiratory chain complex IV assembly uc003tin.1 uc003tin.2 uc003tin.3 
ENST00000223357.8 AEBP1 ENST00000223357.8 Homo sapiens AE binding protein 1 (AEBP1), mRNA. (from RefSeq NM_001129) ACLP AEBP1_HUMAN ENST00000223357.1 ENST00000223357.2 ENST00000223357.3 ENST00000223357.4 ENST00000223357.5 ENST00000223357.6 ENST00000223357.7 NM_001129 Q14113 Q59ER7 Q6ZSC7 Q7KZ79 Q8IUX7 uc003tkb.1 uc003tkb.2 uc003tkb.3 uc003tkb.4 uc003tkb.5 uc003tkb.6 This gene encodes a member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation. Studies in mice suggest that this gene functions in wound healing and abdominal wall development. Overexpression of this gene is associated with glioblastoma. [provided by RefSeq, May 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC038588.1, AB209744.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223357.8/ ENSP00000223357.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## May positively regulate MAP-kinase activity in adipocytes, leading to enhanced adipocyte proliferation and reduced adipocyte differentiation (By similarity). May also positively regulate NF-kappa-B activity in macrophages by promoting the phosphorylation and subsequent degradation of I- kappa-B-alpha (NFKBIA), leading to enhanced macrophage inflammatory responsiveness (By similarity). Can act as a transcriptional repressor (By similarity). Interacts with GNG5, NFKBIA, MAPK1, MAPK3 and PTEN (By similarity). May interact with calmodulin (By similarity). Binds to DNA in vitro (By similarity). Isoform 1: Secreted (By similarity). Isoform 2: Cytoplasm (Probable). Nucleus (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8IUX7-1; Sequence=Displayed; Name=2; IsoId=Q8IUX7-2; Sequence=VSP_033467, VSP_033468, VSP_033469; Note=No experimental confirmation available; Expressed in osteoblast and visceral fat. Phosphorylated by MAPK1 in vitro (By similarity). Belongs to the peptidase M14 family. Contains 1 F5/8 type C domain. This protein has lost active site residues and zinc- binding sites and so is unlikely to be catalytically active. Sequence=BAD92981.1; Type=Erroneous initiation; negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription corepressor activity carboxypeptidase activity metallocarboxypeptidase activity extracellular matrix structural constituent calmodulin binding collagen binding extracellular region extracellular space nucleus cytoplasm regulation of transcription, DNA-templated proteolysis peptide metabolic process zinc ion binding protein processing extracellular exosome regulation of collagen fibril organization uc003tkb.1 uc003tkb.2 uc003tkb.3 uc003tkb.4 uc003tkb.5 uc003tkb.6 
ENST00000223364.7 MYL7 ENST00000223364.7 Homo sapiens myosin light chain 7 (MYL7), mRNA. (from RefSeq NM_021223) B2R4L3 ENST00000223364.1 ENST00000223364.2 ENST00000223364.3 ENST00000223364.4 ENST00000223364.5 ENST00000223364.6 MLRA_HUMAN MYL2A MYLC2A NM_021223 Q01449 uc003tkg.1 uc003tkg.2 uc003tkg.3 uc003tkg.4 Myosin is a hexamer of 2 heavy chains and 4 light chains. Predominantly expressed in adult atrial muscle. This chain binds calcium. Contains 3 EF-hand domains. calcium ion binding protein binding cytosol muscle contraction myosin complex A band dendritic spine metal ion binding uc003tkg.1 uc003tkg.2 uc003tkg.3 uc003tkg.4 
ENST00000223368.7 BCL7B ENST00000223368.7 Homo sapiens BAF chromatin remodeling complex subunit BCL7B (BCL7B), transcript variant 1, mRNA. (from RefSeq NM_001707) A8K226 BCL7B_HUMAN D3DXF0 ENST00000223368.1 ENST00000223368.2 ENST00000223368.3 ENST00000223368.4 ENST00000223368.5 ENST00000223368.6 NM_001707 O43769 Q13845 Q6ZW75 Q9BQE9 uc003tyf.1 uc003tyf.2 uc003tyf.3 uc003tyf.4 This gene encodes a member of the BCL7 family including BCL7A, BCL7B and BCL7C proteins. This member is BCL7B, which contains a region that is highly similar to the N-terminal segment of BCL7A or BCL7C proteins. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. This gene is located at a chromosomal region commonly deleted in Williams syndrome. This gene is highly conserved from C. elegans to human. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2010]. May play a role in lung tumor development or progression. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9BQE9-1; Sequence=Displayed; Name=2; IsoId=Q9BQE9-2; Sequence=VSP_019276, VSP_019277; Note=No experimental confirmation available; Name=3; IsoId=Q9BQE9-3; Sequence=VSP_019278, VSP_019279; Ubiquitous. Note=BCL7B is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of BCL7B may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. Causes an allergic reaction in human. Binds to IgE from atopic dermatitis (AD) patients. Identified as an IgE autoantigen in atopic dermatitis (AD) patients with severe skin manifestations. Belongs to the BCL7 family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/BCL7BID779ch7q11.html"; actin binding protein binding cellular_component apoptotic process biological_process Wnt signaling pathway cell differentiation uc003tyf.1 uc003tyf.2 uc003tyf.3 uc003tyf.4 
ENST00000223369.3 YKT6 ENST00000223369.3 Homo sapiens YKT6 v-SNARE homolog (YKT6), transcript variant 1, mRNA. (from RefSeq NM_006555) ENST00000223369.1 ENST00000223369.2 NM_006555 O15498 Q53F01 Q6FGU9 Q6IB15 YKT6_HUMAN uc003tkm.1 uc003tkm.2 uc003tkm.3 uc003tkm.4 uc003tkm.5 This gene product is one of the SNARE recognition molecules implicated in vesicular transport between secretory compartments. It is a membrane associated, isoprenylated protein that functions at the endoplasmic reticulum-Golgi transport step. This protein is highly conserved from yeast to human and can functionally complement the loss of the yeast homolog in the yeast secretory pathway. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.938251.1, SRR3476690.962189.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223369.3/ ENSP00000223369.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Vesicular soluble NSF attachment protein receptor (v- SNARE) mediating vesicle docking and fusion to a specific acceptor cellular compartment. Functions in endoplasmic reticulum to Golgi transport; as part of a SNARE complex composed of GOSR1, GOSR2 and STX5. Functions in early/recycling endosome to TGN transport; as part of a SNARE complex composed of BET1L, GOSR1 and STX5. Has a S-palmitoyl transferase activity. Identified in 2 different SNARE complexes; the first one composed of GOSR1, GOSR2 and STX5 and the second one composed of BET1L, GOSR1 and STX5 (By similarity). Cytoplasm, cytosol. Cytoplasmic vesicle membrane; Lipid-anchor; Cytoplasmic side. Golgi apparatus membrane; Lipid-anchor; Cytoplasmic side. Note=Probably cycles through vesicles between Golgi and endosomes. The longin domain regulates palmitoylation and membrane targeting. Palmitoylated; catalyzes its own palmitoylation. Palmitoylation is required for Golgi targeting. Farnesylation is required for Golgi targeting. Belongs to the synaptobrevin family. Contains 1 longin domain. Contains 1 v-SNARE coiled-coil homology domain. Golgi membrane SNAP receptor activity cytoplasm mitochondrion endosome endoplasmic reticulum Golgi apparatus cytosol integral component of plasma membrane ER to Golgi vesicle-mediated transport vesicle targeting vesicle docking involved in exocytosis protein transport membrane integral component of membrane vesicle-mediated transport transferase activity protein-cysteine S-palmitoyltransferase activity transport vesicle cytoplasmic vesicle membrane SNARE complex cytoplasmic vesicle endoplasmic reticulum-Golgi intermediate compartment membrane retrograde transport, endosome to Golgi neuronal cell body cadherin binding membrane fusion apical dendrite basilar dendrite uc003tkm.1 uc003tkm.2 uc003tkm.3 uc003tkm.4 uc003tkm.5 
ENST00000223398.11 CLIP2 ENST00000223398.11 Homo sapiens CAP-Gly domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA. (from RefSeq NM_003388) CLIP2_HUMAN CYLN2 ENST00000223398.1 ENST00000223398.10 ENST00000223398.2 ENST00000223398.3 ENST00000223398.4 ENST00000223398.5 ENST00000223398.6 ENST00000223398.7 ENST00000223398.8 ENST00000223398.9 KIAA0291 NM_003388 O14527 O43611 Q9UDT6 WBSCR3 WBSCR4 WSCR4 uc003uam.1 uc003uam.2 uc003uam.3 uc003uam.4 The protein encoded by this gene belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]. Seems to link microtubules to dendritic lamellar body (DLB), a membranous organelle predominantly present in bulbous dendritic appendages of neurons linked by dendrodendritic gap junctions. May operate in the control of brain-specific organelle translocations (By similarity). Interacts with CLASP1 and CLASP2. Cytoplasm (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=Associated with the cytoskeleton (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UDT6-1; Sequence=Displayed; Name=2; IsoId=Q9UDT6-2; Sequence=VSP_015682; Note=CLIP2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of CLIP2 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. Contains 2 CAP-Gly domains. Sequence=BAA22960.2; Type=Erroneous initiation; cytoplasm cytoskeleton microtubule microtubule associated complex cytoplasmic microtubule microtubule binding microtubule plus-end microtubule plus-end binding uc003uam.1 uc003uam.2 uc003uam.3 uc003uam.4 
ENST00000223428.9 ZNF510 ENST00000223428.9 Homo sapiens zinc finger protein 510 (ZNF510), transcript variant 2, mRNA. (from RefSeq NM_014930) ENST00000223428.1 ENST00000223428.2 ENST00000223428.3 ENST00000223428.4 ENST00000223428.5 ENST00000223428.6 ENST00000223428.7 ENST00000223428.8 KIAA0972 NM_014930 Q5SZP5 Q9Y2H8 ZN510_HUMAN uc004awn.1 uc004awn.2 This gene encodes a krueppel C2H2-type zinc-finger protein family member. The encoded protein is expressed in several cancer cell types and may be a biomarker for early diagnosis of these cancers. [provided by RefSeq, Sep 2015]. May be involved in transcriptional regulation. Nucleus (Probable). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 10 C2H2-type zinc fingers. Contains 1 KRAB domain. Sequence=BAA76816.2; Type=Erroneous initiation; nucleic acid binding DNA binding nucleus regulation of transcription, DNA-templated metal ion binding uc004awn.1 uc004awn.2 
ENST00000223459.11 ZNF688 ENST00000223459.11 Homo sapiens zinc finger protein 688 (ZNF688), transcript variant 1, mRNA. (from RefSeq NM_145271) B3KV51 ENST00000223459.1 ENST00000223459.10 ENST00000223459.2 ENST00000223459.3 ENST00000223459.4 ENST00000223459.5 ENST00000223459.6 ENST00000223459.7 ENST00000223459.8 ENST00000223459.9 NM_145271 O75701 P0C7X2 Q8IW91 Q8WV14 Q96MN0 ZN688_HUMAN uc002dyt.1 uc002dyt.2 uc002dyt.3 uc002dyt.4 uc002dyt.5 May be involved in transcriptional regulation. Nucleus (Probable). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 2 C2H2-type zinc fingers. Contains 1 KRAB domain. Sequence=AAC31673.1; Type=Erroneous gene model prediction; Note=The predicted gene has been split into 2 genes: ZNF688 and ZNF785; molecular_function nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding cellular_component nucleus regulation of transcription, DNA-templated biological_process sequence-specific DNA binding metal ion binding uc002dyt.1 uc002dyt.2 uc002dyt.3 uc002dyt.4 uc002dyt.5 
ENST00000223500.9 CHMP5 ENST00000223500.9 Homo sapiens charged multivesicular body protein 5 (CHMP5), transcript variant 1, mRNA. (from RefSeq NM_016410) B2RD95 B4DIR6 C9orf83 CGI-34 CHMP5_HUMAN ENST00000223500.1 ENST00000223500.2 ENST00000223500.3 ENST00000223500.4 ENST00000223500.5 ENST00000223500.6 ENST00000223500.7 ENST00000223500.8 HSPC177 NM_016410 PNAS-114 PNAS-2 Q5VXW2 Q96AV2 Q9HB68 Q9NYS4 Q9NZZ3 Q9Y323 SNF7DC2 uc003zsm.1 uc003zsm.2 uc003zsm.3 uc003zsm.4 uc003zsm.5 uc003zsm.6 CHMP5 belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]. Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT- III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Involved in HIV-1 p6- and p9-dependent virus release. Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III). ESCRT-III components are thought to multimerize to form a flat lattice on the perimeter membrane of the endosome. Several assembly forms of ESCRT-III may exist that interact and act sequentally. Interacts with VTA1. Interacts with CHMP2A. Interacts with VTA1; the interaction involves soluble CHMP5. O95630:STAMBP; NbExp=2; IntAct=EBI-751303, EBI-396676; Cytoplasm, cytosol. Endosome membrane; Peripheral membrane protein (Probable). Note=Localizes to the midbody of dividing cells. Localized in two distinct rings on either side of the Fleming body. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NZZ3-1; Sequence=Displayed; Name=2; IsoId=Q9NZZ3-2; Sequence=VSP_042556; Note=No experimental confirmation available; Belongs to the SNF7 family. Sequence=AAG23821.1; Type=Erroneous initiation; regulation of receptor recycling protein binding nucleus cytoplasm endosome cytosol nucleus organization vacuolar transport lysosome organization mitotic metaphase plate congression endosome to lysosome transport endosome membrane regulation of centrosome duplication protein transport membrane endosomal transport viral life cycle multivesicular body assembly cadherin binding viral budding extracellular exosome cellular response to lipopolysaccharide cellular response to muramyl dipeptide multivesicular body sorting pathway regulation of mitotic spindle assembly ESCRT III complex disassembly uc003zsm.1 uc003zsm.2 uc003zsm.3 uc003zsm.4 uc003zsm.5 uc003zsm.6 
ENST00000223528.6 FKTN ENST00000223528.6 Homo sapiens fukutin (FKTN), transcript variant 12, non-coding RNA. (from RefSeq NR_147214) ENST00000223528.1 ENST00000223528.2 ENST00000223528.3 ENST00000223528.4 ENST00000223528.5 FCMD FKTN_HUMAN NR_147214 O75072 Q3MIJ1 Q96TE1 Q9P295 uc004bcs.1 uc004bcs.2 uc004bcs.3 The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.267492.1 [ECO:0000332] ##Evidence-Data-END## May be a glycosyltransferase which participates in glycosylation of alpha-dystroglycan/DAG1. May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development. Golgi apparatus membrane; Single-pass type II membrane protein (By similarity). Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle. Expressed at similar levels in control fetal and adult brain, but is much reduced in Fukuyama-type congenital dystrophy (FCMD) brains. Expressed in migrating neurons, including Cajar-Retzius cells and adult cortical neurons, as well as hippocampal pyramidal cells and cerebellar Purkinje cells. No expression observed in the glia limitans, the subpial astrocytes (which contribute to basement membrane formation) or other glial cells. In the FCMD brain, neurons in regions with no dysplasia show fair expression, whereas transcripts are nearly undetectable in the overmigrated dysplastic region. Defects in FKTN are the cause of muscular dystrophy- dystroglycanopathy congenital with brain and eye anomalies type A4 (MDDGA4) [MIM:253800]; also called congenital muscular dystrophy Fukuyama type (FCMD) or Walker-Warburg syndrome FKTN-related. MDDGA4 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies. Patients suffer from generalized skeletal muscle weakness and hypotonia from early infancy, mental retardation and seizures. Occasional features include optic atrophy, retinal detachment, cardiomyopathy. Defects in FKTN are the cause of muscular dystrophy- dystroglycanopathy congenital without mental retardation type B4 (MDDGB4) [MIM:613152]. An autosomal recessive disorder characterized by congenital muscular dystrophy and evidence of dystroglycanopathy. Features included increased serum creatine kinase, generalized weakness, mild white matter changes on brain MRI in some cases, and absence of mental retardation. Defects in FKTN are the cause of muscular dystrophy- dystroglycanopathy limb-girdle type C4 (MDDGC4) [MIM:611588]. MDDGC4 is an autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles and elevated serum creatine kinase. The severity of the disease depends on age at onset which may vary from early to late childhood or even adulthood. MDDGC4 is a novel form of LGMD2 and has no brain involvement and a remarkable clinical response to corticosteroids. Defects in FKTN are the cause of cardiomyopathy dilated type 1X (CMD1X) [MIM:611615]; also called dilated cardiomyopathy with mild or no proximal muscle weakness. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Belongs to the LicD transferase family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FKTN"; Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; Golgi membrane protein binding extracellular space nucleus cytoplasm endoplasmic reticulum Golgi apparatus cis-Golgi network protein glycosylation protein O-linked glycosylation nervous system development muscle organ development negative regulation of cell proliferation membrane integral component of membrane transferase activity integral component of Golgi membrane protein O-linked mannosylation negative regulation of JNK cascade regulation of protein glycosylation uc004bcs.1 uc004bcs.2 uc004bcs.3 
ENST00000223641.5 SEC61B ENST00000223641.5 Homo sapiens SEC61 translocon subunit beta (SEC61B), mRNA. (from RefSeq NM_006808) ENST00000223641.1 ENST00000223641.2 ENST00000223641.3 ENST00000223641.4 NM_006808 P38390 P38391 P60468 Q6IBC1 SC61B_HUMAN uc004azh.1 uc004azh.2 uc004azh.3 uc004azh.4 uc004azh.5 The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the beta-subunit protein. The Sec61 subunits are also observed in the post-ER compartment, suggesting that these proteins can escape the ER and recycle back. There is evidence for multiple polyadenylated sites for this transcript. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: ERR279854.286.1, SRR1660807.58439.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223641.5/ ENSP00000223641.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Necessary for protein translocation in the endoplasmic reticulum. Heterotrimeric complex composed of SEC61-alpha, SEC61- beta and SEC61-gamma. Part of a complex composed of SEC61, SEC62 and SEC63. Interacts with SEC62. P51572:BCAP31; NbExp=7; IntAct=EBI-1788819, EBI-77683; Endoplasmic reticulum membrane; Single-pass membrane protein. Belongs to the SEC61-beta family. RNA binding ARF guanyl-nucleotide exchange factor activity protein binding endoplasmic reticulum Sec61 translocon complex endoplasmic reticulum membrane cytosol SRP-dependent cotranslational protein targeting to membrane, translocation intracellular protein transport protein transport membrane integral component of membrane ER-associated ubiquitin-dependent protein catabolic process retrograde protein transport, ER to cytosol posttranslational protein targeting to membrane, translocation endoplasmic reticulum Sec complex epidermal growth factor binding P-P-bond-hydrolysis-driven protein transmembrane transporter activity uc004azh.1 uc004azh.2 uc004azh.3 uc004azh.4 uc004azh.5 
ENST00000223795.3 TNFSF8 ENST00000223795.3 Homo sapiens TNF superfamily member 8 (TNFSF8), transcript variant 1, mRNA. (from RefSeq NM_001244) ENST00000223795.1 ENST00000223795.2 NM_001244 Q52M88 Q52M88_HUMAN RP11-78H18.3-001 hCG_29853 uc004bji.1 uc004bji.2 uc004bji.3 uc004bji.4 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF8/CD30, which is a cell surface antigen and a marker for Hodgkin lymphoma and related hematologic malignancies. The engagement of this cytokine expressed on B cell surface plays an inhibitory role in modulating Ig class switch. This cytokine was shown to enhance cell proliferation of some lymphoma cell lines, while to induce cell death and reduce cell proliferation of other lymphoma cell lines. The pleiotropic biologic activities of this cytokine on different CD30+ lymphoma cell lines may play a pathophysiologic role in Hodgkin's and some non-Hodgkin's lymphomas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. cytokine activity tumor necrosis factor receptor binding extracellular space immune response signal transduction membrane integral component of membrane CD8-positive, alpha-beta T cell differentiation positive regulation of transcription from RNA polymerase II promoter defense response to Gram-positive bacterium uc004bji.1 uc004bji.2 uc004bji.3 uc004bji.4 
ENST00000223862.2 RLN1 ENST00000223862.2 Homo sapiens relaxin 1 (RLN1), mRNA. (from RefSeq NM_006911) ENST00000223862.1 NM_006911 P04808 Q99936 Q9UQJ1 REL1_HUMAN uc003zjb.1 uc003zjb.2 uc003zjb.3 uc003zjb.4 Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In humans there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3, where RLN1 and RLN2 share high sequence homology. The protein encoded by this gene is synthesized as a single-chain polypeptide but the active form consists of an A chain and a B chain linked by disulfide bonds. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin. [provided by RefSeq, Jan 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC005956.1, X00949.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145240, SAMEA2153427 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223862.2/ ENSP00000223862.1 RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## Relaxin is an ovarian hormone that acts with estrogen to produce dilatation of the birth canal in many mammals. May be involved in remodeling of connective tissues during pregnancy, promoting growth of pubic ligaments and ripening of the cervix. Heterodimer of a B chain and an A chain linked by two disulfide bonds. Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P04808-1; Sequence=Displayed; Name=2; IsoId=P04808-2; Sequence=VSP_002709, VSP_002710; Prostate. Not expressed in placenta, decidua or ovary. Belongs to the insulin family. hormone activity extracellular region signal transduction female pregnancy uc003zjb.1 uc003zjb.2 uc003zjb.3 uc003zjb.4 
ENST00000223864.7 PLGRKT ENST00000223864.7 Homo sapiens plasminogen receptor with a C-terminal lysine (PLGRKT), mRNA. (from RefSeq NM_018465) AD025 B2R6W0 C9orf46 ENST00000223864.1 ENST00000223864.2 ENST00000223864.3 ENST00000223864.4 ENST00000223864.5 ENST00000223864.6 MDS030 NM_018465 PLRKT_HUMAN Q9HBL7 Q9NZ44 uc003zjc.1 uc003zjc.2 uc003zjc.3 uc003zjc.4 uc003zjc.5 uc003zjc.6 Receptor for plasminogen. Regulates urokinase plasminogen activator-dependent and stimulates tissue-type plasminogen activator-dependent cell surface plasminogen activation. Proposed to be part of a local catecholaminergic cell plasminogen activation system that regulates neuroendocrine prohormone processing. Involved in regulation of inflammatory response; regulates monocyte chemotactic migration and matrix metallproteinase activation, such as of MMP2 and MMP9. Interacts with PLAT and PLAUR (By similarity). Cell membrane; Multi-pass membrane protein. Note=Colocalizes on the cell surface with urokinase plasminogen activator surface receptor/PLAUR (By similarity). Expressed in peripheral blood cells and monocytes. Expressed in adrenal medulla. protein binding plasma membrane integral component of plasma membrane chemotaxis inflammatory response positive regulation of plasminogen activation membrane integral component of membrane uc003zjc.1 uc003zjc.2 uc003zjc.3 uc003zjc.4 uc003zjc.5 uc003zjc.6 
ENST00000224073.6 EDF1 ENST00000224073.6 Homo sapiens endothelial differentiation related factor 1 (EDF1), transcript variant alpha, mRNA. (from RefSeq NM_003792) EDF1_HUMAN ENST00000224073.1 ENST00000224073.2 ENST00000224073.3 ENST00000224073.4 ENST00000224073.5 NM_003792 O60869 Q5T5T2 Q9UIM1 uc004cjt.1 uc004cjt.2 uc004cjt.3 uc004cjt.4 This gene encodes a protein that may regulate endothelial cell differentiation, lipid metabolism, and hormone-induced cardiomyocyte hypertrophy. The encoded protein has also been found to act as a transcriptional coactivator by interconnecting the general transcription factor TATA element-binding protein (TBP) and gene-specific activators. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. Transcriptional coactivator stimulating NR5A1 and ligand-dependent NR1H3/LXRA and PPARG transcriptional activities. Enhances the DNA-binding activity of ATF1, ATF2, CREB1 and NR5A1. Regulates nitric oxid synthase activity probably by sequestering calmodulin in the cytoplasm. May function in endothelial cells differentiation, hormone-induced cardiomyocytes hypertrophy and lipid metabolism. Interacts with TBP and the transcription factor IID (TFIID) complex, NR5A2, NR1H3 and PPARG. Interaction with TBP is regulated by phosphorylation. Binds NR5A1, ATF1, FOS and JUN via their conserved basic region. Binding to calmodulin is regulated by calcium and phosphorylation of the IQ motif. Q13133:NR1H3; NbExp=4; IntAct=EBI-781301, EBI-781356; Q04752:NR5A1 (xeno); NbExp=4; IntAct=EBI-781310, EBI-850837; O00482:NR5A2; NbExp=2; IntAct=EBI-781301, EBI-781320; P37231:PPARG; NbExp=4; IntAct=EBI-781301, EBI-781384; P20226:TBP; NbExp=2; IntAct=EBI-781310, EBI-355371; Cytoplasm. Nucleus. Note=Also nuclear upon binding to NR5A1 and treatment of cells with TPA or forskolin. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Alpha; IsoId=O60869-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=O60869-2; Sequence=VSP_013336; Expressed in brain, liver, lung, kidney and heart (at protein level). Ubiquitously expressed. More abundant in heart, pancreas, liver, intestine and adipose tissues. Expressed in fetal tissues. More abundant in kidney. Down-regulated by HIV-1 Tat or phorbol ester (TPA) treatment in endothelial cells (at mRNA and protein levels). The IQ motif, which is involved in calmodulin binding, overlaps with the binding domain for nuclear receptors and transcription factors. Its phosphorylation probably allows a switch between the two activities of the protein (By similarity). Phosphorylated (by PKA and PKC). Contains 1 HTH cro/C1-type DNA-binding domain. Sequence=CAI12698.1; Type=Erroneous gene model prediction; TFIID-class transcription factor binding DNA binding transcription coactivator activity RNA binding protein binding calmodulin binding intracellular nucleus nucleolus cytoplasm cytosol regulation of transcription, DNA-templated multicellular organism development regulation of lipid metabolic process cell differentiation positive regulation of DNA binding endothelial cell differentiation positive regulation of transcription, DNA-templated uc004cjt.1 uc004cjt.2 uc004cjt.3 uc004cjt.4 
ENST00000224140.6 SETX ENST00000224140.6 Homo sapiens senataxin (SETX), transcript variant 1, mRNA. (from RefSeq NM_015046) A2A396 ALS4 B2RPB2 B5ME16 C9JQ10 ENST00000224140.1 ENST00000224140.2 ENST00000224140.3 ENST00000224140.4 ENST00000224140.5 KIAA0625 NM_015046 O75120 Q3KQX4 Q5JUJ1 Q68DW5 Q6AZD7 Q7Z333 Q7Z3J6 Q8WX33 Q9H9D1 Q9NVP9 SCAR1 SETX_HUMAN uc004cbk.1 uc004cbk.2 uc004cbk.3 uc004cbk.4 uc004cbk.5 This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]. Probable helicase, which may be involved in RNA maturation (By similarity). Involved in DNA double-strand breaks damage response generated by oxidative stress. Nucleus, nucleoplasm. Nucleus, nucleolus. Cytoplasm. Note=May be detected in the nucleolus only in cycling cells (By similarity). Most abundant in the nucleus. Detected in granules. Colocalized in cycling cells with FBL in the nucleolus. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q7Z333-1; Sequence=Displayed; Name=3; IsoId=Q7Z333-3; Sequence=VSP_017124; Note=No experimental confirmation available; Name=4; IsoId=Q7Z333-4; Sequence=VSP_028826; Note=No experimental confirmation available; Highly expressed in skeletal muscle. Expressed in heart, fibroblast, placenta and liver. Weakly expressed in brain and lung. Expressed in the cortex of the kidney (highly expressed in tubular epithelial cells but low expression in the glomerulus). Defects in SETX are the cause of spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]; also known as ataxia-ocular apraxia 2. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR1 is an autosomal recessive form associated with peripheral neuropathy and elevated serum alpha- fetoprotein, immunoglobulins and, less commonly, creatine kinase levels. Some SCAR1 patients manifest oculomotor apraxia. Defects in SETX are a cause of amyotrophic lateral sclerosis type 4 (ALS4) [MIM:602433]. ALS4 is a familial form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper and lower motor neurons and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of cases leading to familial forms. ALS4 is a childhood- or adolescent- onset form characterized by slow disease progression and the sparing of bulbar and respiratory muscles. Belongs to the DNA2/NAM7 helicase family. Sequence=BAA91701.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB14299.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAD97857.1; Type=Frameshift; Positions=1626; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SETX"; MAPK cascade nucleotide binding nuclear chromosome chromosome, telomeric region transcription termination site sequence-specific DNA binding DNA binding DNA helicase activity RNA binding helicase activity protein binding ATP binding nucleus nucleoplasm chromosome nucleolus cytoplasm DNA repair double-strand break repair DNA recombination DNA-templated transcription, termination termination of RNA polymerase II transcription mRNA splice site selection RNA processing cellular response to DNA damage stimulus spermatogenesis nervous system development circadian rhythm fibroblast growth factor receptor signaling pathway positive regulation of neuron projection development nuclear body hydrolase activity cell differentiation axon growth cone DNA duplex unwinding positive regulation of RNA splicing cellular response to oxidative stress identical protein binding cell projection negative regulation of apoptotic process protein kinase B signaling cellular response to fibroblast growth factor stimulus intercellular bridge positive regulation of transcription from RNA polymerase II promoter rhythmic process positive regulation of DNA-templated transcription, termination cellular response to hydrogen peroxide cellular response to retinoic acid positive regulation of DNA-templated transcription, initiation positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled uc004cbk.1 uc004cbk.2 uc004cbk.3 uc004cbk.4 uc004cbk.5 
ENST00000224337.10 BLNK ENST00000224337.10 Homo sapiens B cell linker (BLNK), transcript variant 1, mRNA. (from RefSeq NM_013314) BASH BLNK_HUMAN ENST00000224337.1 ENST00000224337.2 ENST00000224337.3 ENST00000224337.4 ENST00000224337.5 ENST00000224337.6 ENST00000224337.7 ENST00000224337.8 ENST00000224337.9 NM_013314 O75498 O75499 Q8WV28 SLP65 uc001kls.1 uc001kls.2 uc001kls.3 uc001kls.4 uc001kls.5 uc001kls.6 This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]. Functions as a central linker protein, downstream of the B-cell receptor (BCR), bridging the SYK kinase to a multitude of signaling pathways and regulating biological outcomes of B-cell function and development. Plays a role in the activation of ERK/EPHB2, MAP kinase p38 and JNK. Modulates AP1 activation. Important for the activation of NF-kappa-B and NFAT. Plays an important role in BCR-mediated PLCG1 and PLCG2 activation and Ca(2+) mobilization and is required for trafficking of the BCR to late endosomes. However, does not seem to be required for pre-BCR- mediated activation of MAP kinase and phosphatidyl-inositol 3 (PI3) kinase signaling. May be required for the RAC1-JNK pathway. Plays a critical role in orchestrating the pro-B cell to pre-B cell transition. May play an important role in BCR-induced B-cell apoptosis. Associates with PLCG1, VAV1 and NCK1 in a B-cell antigen receptor-dependent fashion. Interacts with VAV3, PLCG2 and GRB2. Interacts through its SH2 domain with CD79A. Interacts (via SH2 domain) with SYK; phosphorylated and activated by SYK. Interacts with SCIMP. Cytoplasm. Cell membrane. Note=BCR activation results in the translocation to membrane fraction. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8WV28-1; Sequence=Displayed; Name=2; IsoId=Q8WV28-2; Sequence=VSP_016178; Expressed in B-cell lineage and fibroblast cell lines (at protein level). Highest levels of expression in the spleen, with lower levels in the liver, kidney, pancreas, small intestines and colon. Following BCR activation, phosphorylated on tyrosine residues by SYK and LYN. When phosphorylated, serves as a scaffold to assemble downstream targets of antigen activation, including PLCG1, VAV1, GRB2 and NCK1. Phosphorylation of Tyr-84, Tyr-178 and Tyr-189 facilitates PLCG1 binding. Phosphorylation of Tyr-96 facilitates BTK binding. Phosphorylation of Tyr-72 facilitates VAV1 and NCK1 binding. Phosphorylation is required for both Ca(2+) and MAPK signaling pathways. Defects in BLNK are the cause of agammaglobulinemia type 4 (AGM4) [MIM:613502]. It is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. Contains 1 SH2 domain. Name=BLNKbase; Note=BLNK mutation db; URL="http://bioinf.uta.fi/BLNKbase/"; transmembrane receptor protein tyrosine kinase adaptor activity SH3/SH2 adaptor activity protein binding cytoplasm cytosol plasma membrane inflammatory response humoral immune response transmembrane receptor protein tyrosine kinase signaling pathway positive regulation of signal transduction membrane B cell differentiation intracellular signal transduction cytoplasmic ribonucleoprotein granule B cell activation uc001kls.1 uc001kls.2 uc001kls.3 uc001kls.4 uc001kls.5 uc001kls.6 
ENST00000224356.5 CYP26A1 ENST00000224356.5 Homo sapiens cytochrome P450 family 26 subfamily A member 1 (CYP26A1), transcript variant 1, mRNA. (from RefSeq NM_000783) CP26A_HUMAN CYP26 ENST00000224356.1 ENST00000224356.2 ENST00000224356.3 ENST00000224356.4 NM_000783 O43174 P450RAI1 Q5VXI0 uc001kil.1 uc001kil.2 uc001kil.3 uc001kil.4 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein acts on retinoids, including all-trans-retinoic acid (RA), with both 4-hydroxylation and 18-hydroxylation activities. This enzyme regulates the cellular level of retinoic acid which is involved in regulation of gene expression in both embryonic and adult tissues. Two alternatively spliced transcript variants of this gene, which encode the distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]. Plays a key role in retinoic acid metabolism. Acts on retinoids, including all-trans-retinoic acid (RA) and its stereoisomer 9-cis-RA. Capable of both 4-hydroxylation and 18- hydroxylation. Responsible for generation of several hydroxylated forms of RA, including 4-OH-RA, 4-oxo-RA and 18-OH-RA. Heme group (By similarity). Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein. Highest levels in adult liver, heart, pituitary gland, adrenal gland, placenta and regions of the brain. By retinoic acid. Belongs to the cytochrome P450 family. C-22 sterol desaturase activity kidney development retinoic acid binding monooxygenase activity iron ion binding endoplasmic reticulum endoplasmic reticulum membrane ergosterol biosynthetic process vitamin metabolic process xenobiotic metabolic process retinoic acid 4-hydroxylase activity membrane sterol metabolic process oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen oxygen binding heme binding organelle membrane response to retinoic acid response to vitamin A retinoic acid catabolic process retinoic acid metabolic process intracellular membrane-bounded organelle metal ion binding negative regulation of retinoic acid receptor signaling pathway oxidation-reduction process uc001kil.1 uc001kil.2 uc001kil.3 uc001kil.4 
ENST00000224721.12 CDH23 ENST00000224721.12 Homo sapiens cadherin related 23 (CDH23), transcript variant 1, mRNA. (from RefSeq NM_022124) C4IXS9 CAD23_HUMAN ENST00000224721.1 ENST00000224721.10 ENST00000224721.11 ENST00000224721.2 ENST00000224721.3 ENST00000224721.4 ENST00000224721.5 ENST00000224721.6 ENST00000224721.7 ENST00000224721.8 ENST00000224721.9 F6U049 KIAA1774 KIAA1812 NM_022124 Q5QGS2 Q5XKN2 Q6UWW1 Q96JL3 Q9H251 Q9H4K9 UNQ1894/PRO4340 uc285hzv.1 uc285hzv.2 This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]. Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. Interacts with PCDH15 (By similarity). Interacts with USH1C and USH1G. Cell membrane; Single-pass type I membrane protein (By similarity). Event=Alternative splicing; Named isoforms=8; Comment=Additional isoforms seem to exist; Name=1; IsoId=Q9H251-1; Sequence=Displayed; Name=2; IsoId=Q9H251-2; Sequence=VSP_000645; Name=3; IsoId=Q9H251-3; Sequence=VSP_000646; Name=4; IsoId=Q9H251-4; Sequence=VSP_000647; Name=5; IsoId=Q9H251-5; Sequence=VSP_013268, VSP_013269; Name=6; IsoId=Q9H251-6; Sequence=VSP_035289, VSP_035290; Note=No experimental confirmation available; Name=7; IsoId=Q9H251-7; Sequence=VSP_044260; Name=8; IsoId=Q9H251-8; Sequence=VSP_044261, VSP_000645; Note=No experimental confirmation available; Particularly strong expression in the retina. Found also in the cochlea. Defects in CDH23 are the cause of Usher syndrome type 1D (USH1D) [MIM:601067]. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Defects in CDH23 are a cause of Usher syndrome type 1D/F (USH1DF) [MIM:601067]. USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern. Defects in CDH23 are the cause of deafness autosomal recessive type 12 (DFNB12) [MIM:601386]. DFNB12 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Contains 27 cadherin domains. Name=Mutations of the CDH23 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/cdh23mut.htm"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CDH23"; cell morphogenesis calcium ion binding protein binding plasma membrane cell-cell adherens junction calcium ion transport cell-cell junction assembly cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules visual perception sensory perception of sound locomotory behavior cytoskeletal protein binding cell surface membrane integral component of membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules catenin complex stereocilium adherens junction organization protein homodimerization activity cell-cell adhesion mediated by cadherin cadherin binding photoreceptor cell maintenance metal ion binding response to stimulus sensory perception of light stimulus equilibrioception regulation of cytosolic calcium ion concentration inner ear receptor stereocilium organization cell-cell adhesion uc285hzv.1 uc285hzv.2 
ENST00000224784.10 ACTA2 ENST00000224784.10 Homo sapiens actin alpha 2, smooth muscle (ACTA2), transcript variant 2, mRNA. (from RefSeq NM_001613) ACTA_HUMAN ACTSA ACTVS B2R8A4 ENST00000224784.1 ENST00000224784.2 ENST00000224784.3 ENST00000224784.4 ENST00000224784.5 ENST00000224784.6 ENST00000224784.7 ENST00000224784.8 ENST00000224784.9 GIG46 NM_001613 P03996 P04108 P62736 Q6FI19 uc001kfp.1 uc001kfp.2 uc001kfp.3 uc001kfp.4 This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome. [provided by RefSeq, Sep 2017]. Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to 4 others. Cytoplasm, cytoskeleton. Up-regulated in response to enterovirus 71 (EV71) infection. Oxidation of Met-46 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. Methionine sulfoxide is produced stereospecifically, but it is not known whether the (S)-S-oxide or the (R)-S-oxide is produced (By similarity). Note=ACTA2 mutations predispose patients to a variety of diffuse and diverse vascular diseases, premature onset coronary artery disease (CAD), premature ischemic strokes and Moyamoya disease. Defects in ACTA2 are the cause of familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]. AATs are characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. They are primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. Defects in ACTA2 are the cause of Moyamoya disease type 5 (MYMY5) [MIM:614042]. Moyamoya disease is a progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. Defects in ACTA2 are the cause of multisystemic smooth muscle dysfunction syndrome (MSMDYS) [MIM:613834]. MSMDYS is a syndrome characterized by dysfunction of smooth muscle cells throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension. In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. Belongs to the actin family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACTA2"; nucleotide binding ATP binding extracellular space cytoplasm cytosol cytoskeleton muscle contraction regulation of blood pressure response to virus positive regulation of gene expression vascular smooth muscle contraction actin cytoskeleton protein kinase binding lamellipodium filopodium smooth muscle contractile fiber macromolecular complex cell body positive regulation of transcription, DNA-templated extracellular exosome glomerular mesangial cell development mesenchyme migration uc001kfp.1 uc001kfp.2 uc001kfp.3 uc001kfp.4 
ENST00000224949.9 PITRM1 ENST00000224949.9 Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), transcript variant 2, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_014889) B3KMJ6 ENST00000224949.1 ENST00000224949.2 ENST00000224949.3 ENST00000224949.4 ENST00000224949.5 ENST00000224949.6 ENST00000224949.7 ENST00000224949.8 KIAA1104 MP1 NM_014889 O95204 PREP_HUMAN Q2M2G6 Q4VBR1 Q5JRW7 Q5JRX3 Q7L5Z7 Q9BSI6 Q9BVJ5 Q9UPP8 uc001igt.1 uc001igt.2 uc001igt.3 uc001igt.4 The protein encoded by this gene is an ATP-dependent metalloprotease that degrades post-cleavage mitochondrial transit peptides. The encoded protein binds zinc and can also degrade amyloid beta A4 protein, suggesting a possible role in Alzheimer's disease. [provided by RefSeq, Dec 2016]. ATP-independent protease that degrades mitochondrial transit peptides after their cleavage. Also degrades other unstructured peptides. Specific for peptides in the range of 10 to 65 residues. Able to degrade amyloid beta A4 (APP) protein when it accumulates in mitochondrion, suggesting a link with Alzheimer disease. Shows a preference for cleavage after small polar residues and before basic residues, but without any positional preference. Binds 1 zinc ion per subunit (By similarity). Inhibited by nickel and zinc excess, and slightly activated by manganese. Homodimer (By similarity). Mitochondrion matrix. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q5JRX3-1; Sequence=Displayed; Name=2; IsoId=Q5JRX3-2; Sequence=VSP_020597; Note=No experimental confirmation available; Widely expressed. Expressed at higher level in muscle and heart compared to brain, pancreas, liver, lung and placenta. The disulfide bond may lock the enzyme in a closed conformation under oxidized conditions, suggesting that it may participate in redox regulation of the enzyme. Belongs to the peptidase M16 family. PreP subfamily. Sequence=AAH01150.1; Type=Erroneous initiation; Sequence=CAI39997.1; Type=Erroneous gene model prediction; catalytic activity metalloendopeptidase activity protein binding mitochondrion mitochondrial matrix proteolysis protein targeting to mitochondrion enzyme activator activity peptidase activity metallopeptidase activity zinc ion binding hydrolase activity positive regulation of catalytic activity metal ion binding uc001igt.1 uc001igt.2 uc001igt.3 uc001igt.4 
ENST00000225171.7 DNAJC12 ENST00000225171.7 Homo sapiens DnaJ heat shock protein family (Hsp40) member C12 (DNAJC12), transcript variant 1, mRNA. (from RefSeq NM_021800) DJC12_HUMAN ENST00000225171.1 ENST00000225171.2 ENST00000225171.3 ENST00000225171.4 ENST00000225171.5 ENST00000225171.6 JDP1 NM_021800 Q5JVQ1 Q9UKB2 Q9UKB3 uc001jnb.1 uc001jnb.2 uc001jnb.3 uc001jnb.4 uc001jnb.5 This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. Event=Alternative splicing; Named isoforms=2; Name=a; Synonyms=JDP1a; IsoId=Q9UKB3-1; Sequence=Displayed; Name=B; Synonyms=JDP1b; IsoId=Q9UKB3-2; Sequence=VSP_001295, VSP_001296; Expressed at high levels in brain, heart, and testis, and at reduced levels in kidney and stomach. Contains 1 J domain. protein binding cytoplasm uc001jnb.1 uc001jnb.2 uc001jnb.3 uc001jnb.4 uc001jnb.5 
ENST00000225174.8 PPIF ENST00000225174.8 Homo sapiens peptidylprolyl isomerase F (PPIF), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_005729) CYP3 ENST00000225174.1 ENST00000225174.2 ENST00000225174.3 ENST00000225174.4 ENST00000225174.5 ENST00000225174.6 ENST00000225174.7 NM_005729 P30405 PPIF_HUMAN Q5W131 uc001kai.1 uc001kai.2 uc001kai.3 uc001kai.4 uc001kai.5 The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is part of the mitochondrial permeability transition pore in the inner mitochondrial membrane. Activation of this pore is thought to be involved in the induction of apoptotic and necrotic cell death. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.241077.1, SRR1803613.160048.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000225174.8/ ENSP00000225174.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. Peptidylproline (omega=180) = peptidylproline (omega=0). Mitochondrion matrix. Belongs to the cyclophilin-type PPIase family. Contains 1 PPIase cyclophilin-type domain. protein peptidyl-prolyl isomerization response to ischemia peptidyl-prolyl cis-trans isomerase activity protein binding mitochondrion mitochondrial inner membrane mitochondrial permeability transition pore complex mitochondrial matrix protein folding apoptotic process response to oxidative stress apoptotic mitochondrial changes regulation of proton-transporting ATPase activity, rotational mechanism regulation of necrotic cell death programmed cell death cyclosporin A binding membrane isomerase activity negative regulation of ATPase activity protein refolding peptide binding regulation of apoptotic process negative regulation of apoptotic process regulation of mitochondrial membrane permeability unfolded protein binding necroptotic process cellular response to hydrogen peroxide cellular response to arsenic-containing substance cellular response to calcium ion positive regulation of release of cytochrome c from mitochondria negative regulation of release of cytochrome c from mitochondria negative regulation of oxidative phosphorylation regulation of mitochondrial membrane permeability involved in programmed necrotic cell death mitochondrial outer membrane permeabilization involved in programmed cell death negative regulation of oxidative phosphorylation uncoupler activity negative regulation of intrinsic apoptotic signaling pathway mitochondrial proton-transporting ATP synthase complex uc001kai.1 uc001kai.2 uc001kai.3 uc001kai.4 uc001kai.5 
ENST00000225235.5 TBC1D12 ENST00000225235.5 Homo sapiens TBC1 domain family member 12 (TBC1D12), mRNA. (from RefSeq NM_015188) ENST00000225235.1 ENST00000225235.2 ENST00000225235.3 ENST00000225235.4 KIAA0608 NM_015188 O60347 Q5VYA6 Q8WX26 Q8WX59 Q9UG83 TBC12_HUMAN uc001kjr.1 uc001kjr.2 uc001kjr.3 uc001kjr.4 May act as a GTPase-activating protein for Rab family protein(s). Contains 1 Rab-GAP TBC domain. Sequence=BAA25534.1; Type=Erroneous initiation; Sequence=CAB43225.2; Type=Erroneous initiation; GTPase activator activity autophagosome intracellular protein transport Rab GTPase binding recycling endosome activation of GTPase activity regulation of autophagosome assembly uc001kjr.1 uc001kjr.2 uc001kjr.3 uc001kjr.4 
ENST00000225275.4 MPO ENST00000225275.4 Homo sapiens myeloperoxidase (MPO), mRNA. (from RefSeq NM_000250) A1L4B8 ENST00000225275.1 ENST00000225275.2 ENST00000225275.3 NM_000250 P05164 PERM_HUMAN Q14862 Q4PJH5 Q9UCL7 uc002ivu.1 uc002ivu.2 Myeloperoxidase (MPO) is a heme protein synthesized during myeloid differentiation that constitutes the major component of neutrophil azurophilic granules. Produced as a single chain precursor, myeloperoxidase is subsequently cleaved into a light and heavy chain. The mature myeloperoxidase is a tetramer composed of 2 light chains and 2 heavy chains. This enzyme produces hypohalous acids central to the microbicidal activity of neutrophils. [provided by RefSeq, Nov 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M19507.1, X04876.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2149004, SAMEA2154529 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: inferred from homology MANE Ensembl match :: ENST00000225275.4/ ENSP00000225275.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Part of the host defense system of polymorphonuclear leukocytes. It is responsible for microbicidal activity against a wide range of organisms. In the stimulated PMN, MPO catalyzes the production of hypohalous acids, primarily hypochlorous acid in physiologic situations, and other toxic intermediates that greatly enhance PMN microbicidal activity. Cl(-) + H(2)O(2) + H(+) = HClO + H(2)O. Cl(-) + H(2)O(2) = HOCl + 2 H(2)O. Binds 1 calcium ion per monomer. Binds 1 heme B (iron-protoporphyrin IX) group covalently per monomer. Homodimer; disulfide-linked. Each monomer consists of a light and a heavy chain. Lysosome. Event=Alternative splicing; Named isoforms=3; Name=H17; Synonyms=B; IsoId=P05164-1; Sequence=Displayed; Name=H14; IsoId=P05164-2; Sequence=VSP_007206; Name=H7; Synonyms=A; IsoId=P05164-3; Sequence=VSP_007207; Defects in MPO are the cause of myeloperoxidase deficiency (MPOD) [MIM:254600]. A disorder characterized by decreased myeloperoxidase activity in neutrophils and monocytes that results in disseminated candidiasis. Belongs to the peroxidase family. XPO subfamily. Name=MPObase; Note=MPO mutation db; URL="http://bioinf.uta.fi/MPObase/"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mpo/"; Name=Wikipedia; Note=Myeloperoxidase entry; URL="http://en.wikipedia.org/wiki/Myeloperoxidase"; response to yeast hypochlorous acid biosynthetic process respiratory burst involved in defense response chromatin binding peroxidase activity extracellular region extracellular space nucleus cytoplasm lysosome defense response response to oxidative stress aging heparin binding response to mechanical stimulus oxidoreductase activity removal of superoxide radicals heme binding secretory granule response to food response to lipopolysaccharide low-density lipoprotein particle remodeling azurophil granule lumen azurophil granule defense response to bacterium hydrogen peroxide catabolic process negative regulation of apoptotic process intracellular membrane-bounded organelle neutrophil degranulation cell redox homeostasis metal ion binding defense response to fungus oxidation-reduction process extracellular exosome phagocytic vesicle lumen response to gold nanoparticle uc002ivu.1 uc002ivu.2 
ENST00000225276.10 ST6GALNAC2 ENST00000225276.10 Homo sapiens ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 (ST6GALNAC2), mRNA. (from RefSeq NM_006456) ENST00000225276.1 ENST00000225276.2 ENST00000225276.3 ENST00000225276.4 ENST00000225276.5 ENST00000225276.6 ENST00000225276.7 ENST00000225276.8 ENST00000225276.9 NM_006456 Q12971 Q9UJ37 SIA7B_HUMAN SIAT7B SIATL1 STHM uc002jsg.1 uc002jsg.2 uc002jsg.3 uc002jsg.4 uc002jsg.5 uc002jsg.6 ST6GALNAC2 belongs to a family of sialyltransferases that add sialic acids to the nonreducing ends of glycoconjugates. At the cell surface, these modifications have roles in cell-cell and cell-substrate interactions, bacterial adhesion, and protein targeting (Samyn-Petit et al., 2000 [PubMed 10742600]).[supplied by OMIM, Mar 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803616.255230.1, SRR1660809.201916.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2162841 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225276.10/ ENSP00000225276.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## CMP-N-acetylneuraminate + glycano-beta-D- galactosyl-1,3-(N-acetyl-D-galactosaminyl)-glycoprotein = CMP + glycano-beta-D-galactosyl-(2,6-alpha-N-acetylneuraminyl)-(N- acetyl-D-galactosaminyl)-glycoprotein. Protein modification; protein glycosylation. Golgi apparatus membrane; Single-pass type II membrane protein (Potential). Expressed in skeletal muscle, heart, kidney, placenta, lung and leukocytes. Aberrant O-galactosylation of IgA1 molecules plays a role in the development and progression of IgA nephropathy (IgAN). Genetic interactions of C1GALT1 and ST6GALNAC2 variants influence IgA1 O-glycosylation, disease predisposition, and disease severity, and may contribute to the polygenic nature of IgAN. Belongs to the glycosyltransferase 29 family. Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ST6GALNAC2"; Name=Functional Glycomics Gateway - GTase; Note=ST6GalNAc II; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_631"; Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity Golgi apparatus protein glycosylation protein O-linked glycosylation sialyltransferase activity membrane integral component of membrane O-glycan processing transferase activity transferase activity, transferring glycosyl groups protein sialylation uc002jsg.1 uc002jsg.2 uc002jsg.3 uc002jsg.4 uc002jsg.5 uc002jsg.6 
ENST00000225296.8 DHX33 ENST00000225296.8 Homo sapiens DEAH-box helicase 33 (DHX33), transcript variant 1, mRNA. (from RefSeq NM_020162) B4DHF9 DDX33 DHX33_HUMAN ENST00000225296.1 ENST00000225296.2 ENST00000225296.3 ENST00000225296.4 ENST00000225296.5 ENST00000225296.6 ENST00000225296.7 NM_020162 Q4G149 Q5CZ73 Q9H5M9 Q9H6R0 uc002gca.1 uc002gca.2 uc002gca.3 uc002gca.4 This gene encodes a member of the DEAD box protein family. The DEAD box proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]. Stimulates RNA polymerase I transcription of the 47S precursor rRNA. Associates with ribosomal DNA (rDNA) loci where it is involved in POLR1A recruitment. Important element of nucleolar organization. ATP + H(2)O = ADP + phosphate. Interacts with UBTF. Nucleus, nucleolus. Nucleus, nucleoplasm. Note=Predominantly in the nucleolus. During mitosis, localizes with the nucleolar organizing regions. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H6R0-1; Sequence=Displayed; Name=2; IsoId=Q9H6R0-2; Sequence=VSP_016256; Belongs to the DEAD box helicase family. DEAH subfamily. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain. Sequence=AAH30017.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; nucleotide binding rDNA binding nucleic acid binding RNA binding RNA helicase activity double-stranded RNA binding mRNA binding helicase activity protein binding ATP binding nucleus nucleoplasm nucleolus cytoplasm translational initiation hydrolase activity positive regulation of type I interferon production activating transcription factor binding ribosomal large subunit binding positive regulation of MAPK cascade positive regulation of transcription from RNA polymerase I promoter positive regulation of NF-kappaB transcription factor activity inflammasome complex NLRP3 inflammasome complex positive regulation of NLRP3 inflammasome complex assembly uc002gca.1 uc002gca.2 uc002gca.3 uc002gca.4 
ENST00000225298.12 UTP18 ENST00000225298.12 Homo sapiens UTP18 small subunit processome component (UTP18), mRNA. (from RefSeq NM_016001) CDABP0061 CGI-48 ENST00000225298.1 ENST00000225298.10 ENST00000225298.11 ENST00000225298.2 ENST00000225298.3 ENST00000225298.4 ENST00000225298.5 ENST00000225298.6 ENST00000225298.7 ENST00000225298.8 ENST00000225298.9 NM_016001 Q9H4N6 Q9Y5J1 UTP18_HUMAN WDR50 uc002its.1 uc002its.2 uc002its.3 uc002its.4 uc002its.5 Involved in nucleolar processing of pre-18S ribosomal RNA (By similarity). Nucleus, nucleolus. Belongs to the WD repeat UTP18 family. Contains 6 WD repeats. Sequence=AAD34043.1; Type=Frameshift; Positions=19; Sequence=AAG01999.1; Type=Erroneous initiation; RNA binding nucleus nucleoplasm nucleolus rRNA processing nuclear membrane small-subunit processome Pwp2p-containing subcomplex of 90S preribosome uc002its.1 uc002its.2 uc002its.3 uc002its.4 uc002its.5 
ENST00000225308.12 SLC25A39 ENST00000225308.12 Required for normal heme biosynthesis (By similarity). (from UniProt Q9BZJ4) A8JZZ2 BC001398 CGI-69 D3DX51 D3DX54 ENST00000225308.1 ENST00000225308.10 ENST00000225308.11 ENST00000225308.2 ENST00000225308.3 ENST00000225308.4 ENST00000225308.5 ENST00000225308.6 ENST00000225308.7 ENST00000225308.8 ENST00000225308.9 PRO2163 Q4V9M1 Q9BZJ4 Q9P182 Q9UF66 Q9Y379 S2539_HUMAN uc002igm.1 uc002igm.2 uc002igm.3 Required for normal heme biosynthesis (By similarity). Mitochondrion inner membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=CGI-69L; IsoId=Q9BZJ4-1; Sequence=Displayed; Name=2; IsoId=Q9BZJ4-2; Sequence=VSP_003264; Expressed in many tissues. Abundant in testis and kidney. Belongs to the mitochondrial carrier family. Contains 3 Solcar repeats. Sequence=AAF69618.1; Type=Erroneous initiation; Note=Translation N-terminally extended; mitochondrion mitochondrial inner membrane heme biosynthetic process membrane integral component of membrane uc002igm.1 uc002igm.2 uc002igm.3 
ENST00000225371.6 EPX ENST00000225371.6 Homo sapiens eosinophil peroxidase (EPX), mRNA. (from RefSeq NM_000502) ENST00000225371.1 ENST00000225371.2 ENST00000225371.3 ENST00000225371.4 ENST00000225371.5 EPER EPO EPP NM_000502 P11678 PERE_HUMAN Q4TVP3 uc002ivq.1 uc002ivq.2 uc002ivq.3 uc002ivq.4 uc002ivq.5 This gene is a member of the peroxidase gene family and is expressed in eosinophils. The encoded preproprotein is proteolytically processed into covalently attached heavy and light chains to form the mature enzyme, which functions as an oxidant. The enzyme is released at sites of parasitic infection or allergen stimulation to mediate lysis of protozoa or parasitic worms. The gene is found in a gene cluster with other peroxidase genes on chromosome 17. Mutations in this gene result in eosinophil peroxidase deficiency. [provided by RefSeq, Feb 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA2149004, SAMEA2153307 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225371.6/ ENSP00000225371.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Mediates tyrosine nitration of secondary granule proteins in mature resting eosinophils. Shows significant inhibitory activity towards Mycobacterium tuberculosis H37Rv by inducing bacterial fragmentation and lysis. 2 phenolic donor + H(2)O(2) = 2 phenoxyl radical of the donor + 2 H(2)O. Binds 1 calcium ion per heterodimer (By similarity). Binds 1 heme B (iron-protoporphyrin IX) covalently through ester linkages to hydroxylated methyl groups formed auto- catalytically with hydrogen peroxide at the heme C-1 and C-5 positions. The ester linkage to Asp-232 was observed in 30% of the chains. Tetramer of two light chains and two heavy chains. Cytoplasmic granule. Note=Cytoplasmic granules of eosinophils. Allelic variant in EPX is associated with Japanese cedar pollinosis which is a type I allergic disease with ocular and nasal symptoms that develop paroxysmally on contact with Japanese cedar pollen. These symptoms, which occur seasonally each year, are typical features of allergic rhinitis, such as sneezing, excessive nasal secretion, nasal congestion, and conjunctival itching. Defects in EPX are the cause of eosinophil peroxidase deficiency (EPD) [MIM:261500]. EPD is an autosomal recessive defect where anomalous eosinophils are characterized by nuclear hypersegmentation, hypogranulation, and negative peroxidase and phospholipid staining. Belongs to the peroxidase family. XPO subfamily. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/epx/"; defense response to nematode peroxidase activity extracellular region extracellular space cytoplasm defense response response to oxidative stress oxidoreductase activity heme binding negative regulation of interleukin-10 production negative regulation of interleukin-5 production positive regulation of interleukin-4 production secretory granule lumen defense response to bacterium hydrogen peroxide catabolic process neutrophil degranulation metal ion binding oxidation-reduction process extracellular exosome eosinophil migration cellular oxidant detoxification uc002ivq.1 uc002ivq.2 uc002ivq.3 uc002ivq.4 uc002ivq.5 
ENST00000225387.8 CRYBA1 ENST00000225387.8 Homo sapiens crystallin beta A1 (CRYBA1), mRNA. (from RefSeq NM_005208) CRBA1_HUMAN CRYB1 ENST00000225387.1 ENST00000225387.2 ENST00000225387.3 ENST00000225387.4 ENST00000225387.5 ENST00000225387.6 ENST00000225387.7 NM_005208 P05813 Q13633 Q14CM9 uc002hdw.1 uc002hdw.2 uc002hdw.3 uc002hdw.4 uc002hdw.5 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, encodes two proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA, the latter protein is 17 aa shorter than crystallin, beta A3 and is generated by use of an alternate translation initiation site. Deletion of exons 3 and 4 causes the autosomal dominant disease 'zonular cataract with sutural opacities'. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: EB361356.1, EB361468.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression ##RefSeq-Attributes-END## Crystallins are the dominant structural components of the vertebrate eye lens. Homo/heterodimer, or complexes of higher-order. The structure of beta-crystallin oligomers seems to be stabilized through interactions between the N-terminal arms (By similarity). Event=Alternative initiation; Named isoforms=2; Name=A3; IsoId=P05813-1; Sequence=Displayed; Name=A1; IsoId=P05813-2; Sequence=VSP_018710; Note=Met-1 is removed. Acetylated on Ala-2; Has a two-domain beta-structure, folded into four very similar Greek key motifs. Specific cleavages in the N-terminal arm occur during lens maturation and give rise to several truncated forms. Cleavages do not seem to have adverse effects on solubility. S-methylation and glutathionylation occur in normal young lenses and do not seem to be detrimental. Isoform A1 initiator methionine is removed. The new N- terminal amino acid is then N-acetylated. Mass=25192; Mass_error=3; Method=Electrospray; Range=1-215; Source=PubMed:8999933; Mass=25192; Method=Electrospray; Range=1-215; Source=PubMed:15576560; Mass=23101; Mass_error=3; Method=Electrospray; Range=19-215; Source=PubMed:8999933; Mass=23102; Method=Electrospray; Range=19-215; Source=PubMed:15576560; Mass=22646; Method=Electrospray; Range=23-215; Source=PubMed:15576560; Mass=22351; Method=Electrospray; Range=26-215; Source=PubMed:15576560; Mass=22294; Method=Electrospray; Range=27-215; Source=PubMed:15576560; Defects in CRYBA1 are the cause of cataract congenital zonular with sutural opacities (CCZS) [MIM:600881]. A form of zonular cataract. Zonular or lamellar cataracts are concentric opacities, broad or narrow, usually consisting of powdery white dots affecting one lamella or zonule of an otherwise clear lens. Belongs to the beta/gamma-crystallin family. Contains 4 beta/gamma crystallin 'Greek key' domains. negative regulation of cytokine production lens development in camera-type eye molecular_function structural constituent of eye lens protein binding nucleus cytoplasm visual perception negative regulation of phosphatidylinositol 3-kinase signaling negative regulation of TOR signaling negative regulation of protein kinase B signaling negative regulation of ERK1 and ERK2 cascade positive regulation of anoikis uc002hdw.1 uc002hdw.2 uc002hdw.3 uc002hdw.4 uc002hdw.5 
ENST00000225388.9 NUFIP2 ENST00000225388.9 Homo sapiens nuclear FMR1 interacting protein 2 (NUFIP2), mRNA. (from RefSeq NM_020772) ENST00000225388.1 ENST00000225388.2 ENST00000225388.3 ENST00000225388.4 ENST00000225388.5 ENST00000225388.6 ENST00000225388.7 ENST00000225388.8 KIAA1321 NM_020772 NUFP2_HUMAN PIG1 Q7Z417 Q9P2M5 uc002hdy.1 uc002hdy.2 uc002hdy.3 uc002hdy.4 uc002hdy.5 uc002hdy.6 Binds RNA. Interacts with FMRP. Nucleus. Cytoplasm. Note=Distribution is cell cycle-modulated, being cytoplasmic in the G2/M phase and accumulating in nucleus during the G1 phase. Phosphorylated upon DNA damage, probably by ATM or ATR. Sequence=BAA92559.1; Type=Erroneous initiation; RNA binding protein binding nucleus nucleoplasm cytoplasm cytosol cytoplasmic stress granule membrane nuclear body polysomal ribosome uc002hdy.1 uc002hdy.2 uc002hdy.3 uc002hdy.4 uc002hdy.5 uc002hdy.6 
ENST00000225430.9 RPL19 ENST00000225430.9 Homo sapiens ribosomal protein L19 (RPL19), transcript variant 1, mRNA. (from RefSeq NM_000981) B2R4K2 ENST00000225430.1 ENST00000225430.2 ENST00000225430.3 ENST00000225430.4 ENST00000225430.5 ENST00000225430.6 ENST00000225430.7 ENST00000225430.8 NM_000981 P14118 P22908 P84098 Q502Y6 Q7Z6E4 RL19_HUMAN uc002hrq.1 uc002hrq.2 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L19E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC095445.1, SRR5189664.134613.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225430.9/ ENSP00000225430.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Belongs to the ribosomal protein L19e family. Sequence=CAD97677.1; Type=Erroneous initiation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic translation RNA binding structural constituent of ribosome protein binding cytosol ribosome focal adhesion translation translational initiation SRP-dependent cotranslational protein targeting to membrane membrane viral transcription cytosolic large ribosomal subunit polysomal ribosome synapse uc002hrq.1 uc002hrq.2 
ENST00000225504.8 SUPT4H1 ENST00000225504.8 Homo sapiens SPT4 homolog, DSIF elongation factor subunit (SUPT4H1), transcript variant 2, non-coding RNA. (from RefSeq NR_073470) B2R4X8 D3DTZ4 ENST00000225504.1 ENST00000225504.2 ENST00000225504.3 ENST00000225504.4 ENST00000225504.5 ENST00000225504.6 ENST00000225504.7 NR_073470 P63272 Q16550 Q62387 Q6ZP89 SPT4H SPT4H_HUMAN SUPT4H uc002iwe.1 uc002iwe.2 uc002iwe.3 uc002iwe.4 This gene encodes the small subunit of DRB (5,6-dichloro-1-beta-d-ribofuranosylbenzimidazole) sensitivity-inducing factor (DSIF) complex, which regulates mRNA processing and transcription elongation by RNA polymerase II. The encoded protein is localized to the nucleus and interacts with the large subunit (SUPT5H) to form the DSIF complex. Related pseudogenes have been identified on chromosomes 2 and 12. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]. Component of the DRB sensitivity-inducing factor complex (DSIF complex), which regulates mRNA processing and transcription elongation by RNA polymerase II. DSIF positively regulates mRNA capping by stimulating the mRNA guanylyltransferase activity of RNGTT/CAP1A. DSIF also acts cooperatively with the negative elongation factor complex (NELF complex) to enhance transcriptional pausing at sites proximal to the promoter. Transcriptional pausing may facilitate the assembly of an elongation competent RNA polymerase II complex. DSIF and NELF promote pausing by inhibition of the transcription elongation factor TFIIS/S-II. TFIIS/S-II binds to RNA polymerase II at transcription pause sites and stimulates the weak intrinsic nuclease activity of the enzyme. Cleavage of blocked transcripts by RNA polymerase II promotes the resumption of transcription from the new 3' terminus and may allow repeated attempts at transcription through natural pause sites. DSIF can also positively regulate transcriptional elongation and is required for the efficient activation of transcriptional elongation by the HIV- 1 nuclear transcriptional activator, Tat. DSIF acts to suppress transcriptional pausing in transcripts derived from the HIV-1 LTR and blocks premature release of HIV-1 transcripts at terminator sequences. Interacts with SUPT5H to form DSIF. DSIF interacts with the positive transcription elongation factor b complex (P-TEFb complex), which is composed of CDK9 and cyclin-T (CCNT1 or CCNT2). DSIF interacts with RNA polymerase II, and this interaction is reduced by phosphorylation of the C-terminal domain (CTD) of POLR2A by P-TEFb. DSIF also interacts with the NELF complex, which is composed of WHSC2/NELFA, COBRA1/NELFB, TH1L/NELFD and RDBP/NELFE, and this interaction occurs following prior binding of DSIF to RNA polymerase II. DSIF also interacts with HRMT1L2/PRMT1, HTATSF1/TATSF1, RNGTT/CAP1A, SKB1/PRMT5, SUPT6H, and can interact with PIN1. O00267:SUPT5H; NbExp=3; IntAct=EBI-727250, EBI-710464; Nucleus. Widely expressed. Belongs to the SPT4 family. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core binding transcription factor activity, sequence-specific DNA binding single-stranded RNA binding protein binding nucleus nucleoplasm chromatin organization chromatin remodeling regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter transcription elongation from RNA polymerase II promoter zinc ion binding DSIF complex negative regulation of DNA-templated transcription, elongation positive regulation of DNA-templated transcription, elongation negative regulation of transcription elongation from RNA polymerase II promoter positive regulation of transcription from RNA polymerase II promoter metal ion binding protein heterodimerization activity positive regulation of viral transcription uc002iwe.1 uc002iwe.2 uc002iwe.3 uc002iwe.4 
ENST00000225512.6 WNT3 ENST00000225512.6 Homo sapiens Wnt family member 3 (WNT3), mRNA. (from RefSeq NM_030753) ENST00000225512.1 ENST00000225512.2 ENST00000225512.3 ENST00000225512.4 ENST00000225512.5 INT4 NM_030753 P56703 Q2M237 Q9H1J9 WNT3_HUMAN uc002ikv.1 uc002ikv.2 uc002ikv.3 uc002ikv.4 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 98% amino acid identity to mouse Wnt3 protein, and 84% to human WNT3A protein, another WNT gene product. The mouse studies show the requirement of Wnt3 in primary axis formation in the mouse. Studies of the gene expression suggest that this gene may play a key role in some cases of human breast, rectal, lung, and gastric cancer through activation of the WNT-beta-catenin-TCF signaling pathway. This gene is clustered with WNT15, another family member, in the chromosome 17q21 region. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC114219.1, SRR1803616.121826.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2145893 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225512.6/ ENSP00000225512.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Ligand for members of the frizzled family of seven transmembrane receptors. Wnt-3 and Wnt-3a play distinct roles in cell-cell signaling during morphogenesis of the developing neural tube (By similarity). Interacts with PORCN (By similarity). Interacts with WLS (By similarity). Secreted, extracellular space, extracellular matrix. Palmitoylation at Ser-212 is required for efficient binding to frizzled receptors. It is also required for subsequent palmitoylation at Cys-80. Palmitoylation is necessary for proper trafficking to cell surface (By similarity). Defects in WNT3 are the cause of autosomal recessive tetra-amelia (ARTTRA) [MIM:273395]. Tetra-amelia is a rare human genetic disorder characterized by complete absence of all four limbs and other anomalies such as craniofacial, nervous system, pulmonary, skeletal and urogenital defects. Belongs to the Wnt family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/WNT3"; cell morphogenesis mesoderm formation receptor binding frizzled binding protein binding extracellular region extracellular space cytoplasm endoplasmic reticulum lumen Golgi lumen plasma membrane multicellular organism development gamete generation axon guidance anterior/posterior axis specification dorsal/ventral axis specification anterior/posterior pattern specification positive regulation of gene expression Wnt signaling pathway protein domain specific binding positive regulation of Wnt signaling pathway neuron differentiation endocytic vesicle membrane extracellular matrix embryonic forelimb morphogenesis embryonic hindlimb morphogenesis canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation canonical Wnt signaling pathway involved in osteoblast differentiation cell fate commitment receptor agonist activity anatomical structure formation involved in morphogenesis positive regulation of collateral sprouting in absence of injury negative regulation of axon extension involved in axon guidance regulation of neurogenesis Spemann organizer formation at the anterior end of the primitive streak canonical Wnt signaling pathway limb development limb bud formation head morphogenesis mammary gland epithelium development extracellular exosome cellular response to retinoic acid stem cell proliferation canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation canonical Wnt signaling pathway involved in stem cell proliferation Wnt signalosome uc002ikv.1 uc002ikv.2 uc002ikv.3 uc002ikv.4 
ENST00000225519.5 SHPK ENST00000225519.5 Homo sapiens sedoheptulokinase (SHPK), mRNA. (from RefSeq NM_013276) B2R640 CARKL ENST00000225519.1 ENST00000225519.2 ENST00000225519.3 ENST00000225519.4 NM_013276 Q8WUH3 Q9UHJ6 SHPK_HUMAN uc002fvz.1 uc002fvz.2 uc002fvz.3 The protein encoded by this gene has weak homology to several carbohydrate kinases, a class of proteins involved in the phosphorylation of sugars as they enter a cell, inhibiting return across the cell membrane. Sequence variation between this novel gene and known carbohydrate kinases suggests the possibility of a different substrate, cofactor or changes in kinetic properties distinguishing it from other carbohydrate kinases. The gene resides in a region commonly deleted in cystinosis patients, suggesting a role as a modifier for the cystinosis phenotype. The genomic region is also rich in Alu repetitive sequences, frequently involved in chromosomal rearrangements. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AF163573.1, BC020543.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225519.5/ ENSP00000225519.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Acts as a modulator of macrophage activation through control of glucose metabolism (By similarity). ATP + sedoheptulose = ADP + sedoheptulose 7- phosphate. Kinetic parameters: KM=0.06 mM for sedoheptulose; pH dependence: Optimum pH is 8.5; Cytoplasm (By similarity). Strongly expressed in liver, kidney and pancreas. Expressed at lower levels in placenta and heart. Very weakly expressed in lung and brain. Down-regulated by LPS. Belongs to the FGGY kinase family. nucleotide binding ATP binding cytoplasm cytosol carbohydrate metabolic process pentose-phosphate shunt pentose-phosphate shunt, non-oxidative branch kinase activity phosphorylation transferase activity phosphotransferase activity, alcohol group as acceptor cellular response to interleukin-13 regulation of macrophage activation sedoheptulokinase activity regulation of inflammatory response cellular response to lipopolysaccharide cellular response to interleukin-4 uc002fvz.1 uc002fvz.2 uc002fvz.3 
ENST00000225525.4 TAX1BP3 ENST00000225525.4 Homo sapiens Tax1 binding protein 3 (TAX1BP3), transcript variant 1, mRNA. (from RefSeq NM_014604) B2RD53 D3DTJ6 ENST00000225525.1 ENST00000225525.2 ENST00000225525.3 NM_014604 O14907 Q7LCQ4 TIP1 TX1B3_HUMAN uc002fwc.1 uc002fwc.2 uc002fwc.3 uc002fwc.4 uc002fwc.5 This gene encodes a small, highly conserved protein with a single PDZ domain. PDZ (PSD-95/Discs large/ZO-1 homologous) domains promote protein-protein interactions that affect cell signaling, adhesion, protein scaffolding, and receptor and ion transporter functions. The encoded protein interacts with a large number of target proteins that play roles in signaling pathways; for example, it interacts with Rho A and glutaminase L and also acts as a negative regulator of the Wnt/beta-catenin signaling pathway. This protein was first identified as binding to the T-cell leukaemia virus (HTLV1) Tax oncoprotein. Overexpression of this gene has been implicated in altered cancer cell adhesion, migration and metastasis. The encoded protein also modulates the localization and density of inwardly rectifying potassium channel 2.3 (Kir2.3). To date, this protein has been shown to play a role in cell proliferation, development, stress response, and polarization. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]. May regulate a number of protein-protein interactions by competing for PDZ domain binding sites. Binds CTNNB1 and may thereby act as an inhibitor of the Wnt signaling pathway. Competes with LIN7A for KCNJ4 binding, and thereby promotes KCNJ4 internalization. May play a role in the Rho signaling pathway. May play a role in activation of CDC42 by the viral protein HPV16 E6. Interacts (via its PDZ domain) with GLS2. Interacts (via its PDZ domain) with RTKN (via the C-terminal region); this interaction facilitates Rho-mediated activation of the FOS serum response element (SRE). Interacts (via its PDZ domain) with CTNNB1; this interaction inhibits the transcriptional activity of CTNNB1. Interacts with HTLV-1 TAX protein. Interacts (via PDZ domain) with ARHGEF16. Interacts (via PDZ domain) with KCNJ4 (via C-terminus). Competes with LIN7A for KCNJ4 binding. Cytoplasm. Nucleus. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Recruited to the cell membrane by interaction with membrane proteins. Ubiquitous. Detected in brain, heart, kidney, lung, small intestine and skeletal muscle. Detected in various cell lines including HeLa. Weakly expressed in peripheral blood leukocytes. Contains 1 PDZ (DHR) domain. Sequence=AAF43104.1; Type=Erroneous initiation; Note=Translation N-terminally extended; fibrillar center protein binding nucleus cytoplasm cytosol plasma membrane Rho protein signal transduction beta-catenin binding protein C-terminus binding negative regulation of cell proliferation actin cytoskeleton membrane Wnt signaling pathway negative regulation of Wnt signaling pathway intracellular membrane-bounded organelle extracellular exosome activation of GTPase activity negative regulation of protein localization to cell surface uc002fwc.1 uc002fwc.2 uc002fwc.3 uc002fwc.4 uc002fwc.5 
ENST00000225538.4 P2RX1 ENST00000225538.4 Homo sapiens purinergic receptor P2X 1 (P2RX1), mRNA. (from RefSeq NM_002558) ENST00000225538.1 ENST00000225538.2 ENST00000225538.3 NM_002558 P2RX1_HUMAN P2X1 P51575 Q9UK84 uc002fww.1 uc002fww.2 uc002fww.3 uc002fww.4 uc002fww.5 The protein encoded by this gene belongs to the P2X family of G-protein-coupled receptors. These proteins can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protein is primarily localized to smooth muscle where binds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may being responsible for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies suggest that this receptor is essential for normal male reproductive function. This protein may also be involved in promoting apoptosis. [provided by RefSeq, Jun 2013]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC044657.1, U45448.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2147975, SAMEA2159764 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225538.4/ ENSP00000225538.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Ligand-gated ion channel with relatively high calcium permeability. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Seems to be linked to apoptosis, by increasing the intracellular concentration of calcium in the presence of ATP, leading to programmed cell death (By similarity). Homo- or heteropolymers (By similarity). Membrane; Multi-pass membrane protein. Belongs to the P2X receptor family. Name=Wikipedia; Note=P2X receptor entry; URL="http://en.wikipedia.org/wiki/P2X_receptor"; Name=Wikipedia; Note=P2RX1 entry; URL="http://en.wikipedia.org/wiki/P2RX1"; purinergic nucleotide receptor activity serotonin secretion by platelet regulation of vascular smooth muscle contraction extracellular ATP-gated cation channel activity ion channel activity cation channel activity ATP binding integral component of nuclear inner membrane plasma membrane integral component of plasma membrane ion transport apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process regulation of smooth muscle contraction signal transduction insemination blood coagulation drug binding regulation of blood pressure zinc ion binding external side of plasma membrane response to organic substance membrane integral component of membrane neuronal action potential regulation of vasoconstriction platelet activation secretory granule membrane macromolecular complex response to ATP synaptic transmission, glutamatergic specific granule membrane purinergic nucleotide receptor signaling pathway neuron projection positive regulation of ion transport neutrophil degranulation membrane raft postsynaptic membrane ceramide biosynthetic process protein homooligomerization protein heterooligomerization regulation of calcium ion transport excitatory postsynaptic potential cation transmembrane transport glutamatergic synapse integral component of postsynaptic membrane integral component of presynaptic active zone membrane regulation of presynaptic cytosolic calcium ion concentration regulation of synaptic vesicle exocytosis uc002fww.1 uc002fww.2 uc002fww.3 uc002fww.4 uc002fww.5 
ENST00000225550.4 KRT37 ENST00000225550.4 Homo sapiens keratin 37 (KRT37), mRNA. (from RefSeq NM_003770) ENST00000225550.1 ENST00000225550.2 ENST00000225550.3 HHA7 HKA7 KRT37_HUMAN KRTHA7 NM_003770 O76014 uc002hwp.1 uc002hwp.2 uc002hwp.3 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AJ786655.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA2155974 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225550.4/ ENSP00000225550.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic). Belongs to the intermediate filament family. structural molecule activity cytosol intermediate filament keratinization extracellular exosome cornification uc002hwp.1 uc002hwp.2 uc002hwp.3 
ENST00000225577.9 RPS6KB1 ENST00000225577.9 Homo sapiens ribosomal protein S6 kinase B1 (RPS6KB1), transcript variant 23, non-coding RNA. (from RefSeq NR_161462) ENST00000225577.1 ENST00000225577.2 ENST00000225577.3 ENST00000225577.4 ENST00000225577.5 ENST00000225577.6 ENST00000225577.7 ENST00000225577.8 KS6B1_HUMAN NR_161462 P23443 STK14A uc002ixy.1 uc002ixy.2 uc002ixy.3 uc002ixy.4 uc002ixy.5 uc002ixy.6 This gene encodes a member of the ribosomal S6 kinase family of serine/threonine kinases. The encoded protein responds to mTOR (mammalian target of rapamycin) signaling to promote protein synthesis, cell growth, and cell proliferation. Activity of this gene has been associated with human cancer. Alternatively spliced transcript variants have been observed. The use of alternative translation start sites results in isoforms with longer or shorter N-termini which may differ in their subcellular localizations. There are two pseudogenes for this gene on chromosome 17. [provided by RefSeq, Jan 2013]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803616.170503.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142853, SAMEA2144120 [ECO:0000348] ##Evidence-Data-END## Serine/threonine-protein kinase that acts downstream of mTOR signaling in response to growth factors and nutrients to promote cell proliferation, cell growth and cell cycle progression. Regulates protein synthesis through phosphorylation of EIF4B, RPS6 and EEF2K, and contributes to cell survival by repressing the pro-apoptotic function of BAD. Under conditions of nutrient depletion, the inactive form associates with the EIF3 translation initiation complex. Upon mitogenic stimulation, phosphorylation by the mammalian target of rapamycin complex 1 (mTORC1) leads to dissociation from the EIF3 complex and activation. The active form then phosphorylates and activates several substrates in the preinitiation complex, including the EIF2B complex and the cap-binding complex component EIF4B. Also controls translation initiation by phosphorylating a negative regulator of EIF4A, PDCD4, targeting it for ubiquitination and subsequent proteolysis. Promotes initiation of the pioneer round of protein synthesis by phosphorylating POLDIP3/SKAR. In response to IGF1, activates translation elongation by phosphorylating EEF2 kinase (EEF2K), which leads to its inhibition and thus activation of EEF2. Also plays a role in feedback regulation of mTORC2 by mTORC1 by phosphorylating RICTOR, resulting in the inhibition of mTORC2 and AKT1 signaling. Mediates cell survival by phosphorylating the pro-apoptotic protein BAD and suppressing its pro-apoptotic function. Phosphorylates mitochondrial URI1 leading to dissociation of a URI1-PPP1CC complex. The free mitochondrial PPP1CC can then dephosphorylate RPS6KB1 at 'Thr-412', which is proposed to be a negative feedback mechanism for the RPS6KB1 anti- apoptotic function. Mediates TNF-alpha-induced insulin resistance by phosphorylating IRS1 at multiple serine residues, resulting in accelerated degradation of IRS1. In cells lacking functional TSC1- 2 complex, constitutively phosphorylates and inhibits GSK3B. May be involved in cytoskeletal rearrangement through binding to neurabin. ATP + a protein = ADP + a phosphoprotein. Inactivated by binding to URI1. Activation requires multiple phosphorylation events on serine/threonine residues. Activation appears to be first mediated by phosphorylation of multiple sites in the autoinhibitory domain, which facilitates phosphorylation at Thr-412, disrupting the autoinhibitory mechanism and allowing phosphorylation of Thr-252 by PDPK1. The active conformation of the kinase is believed to be stabilized by a mechanism involving three conserved phosphorylation sites located in the kinase domain activation loop (Thr-252) and in the AGC-kinase C-terminal domain (Ser-394 in the middle of the tail/linker region and Thr-412 within a hydrophobic motif at its end). Activated by mTORC1; isoform Alpha I and isoform Alpha II are sensitive to rapamycin, which inhibits activating phosphorylation at Thr-412. Activated by PDPK1. Interacts with PPP1R9A/neurabin-1 (By similarity). Interacts with RPTOR. Interacts with IRS1. Interacts with EIF3B and EIF3C. Interacts with POLDIP3 and TRAF4. P08151:GLI1; NbExp=4; IntAct=EBI-1775921, EBI-308084; Q00005:PPP2R2B; NbExp=2; IntAct=EBI-1775921, EBI-1052159; Cell junction, synapse, synaptosome (By similarity). Mitochondrion outer membrane. Mitochondrion. Note=Colocalizes with URI1 at mitochondrion. Isoform Alpha I: Nucleus. Cytoplasm. Isoform Alpha II: Cytoplasm. Event=Alternative initiation; Named isoforms=2; Comment=Additional isoforms seem to exist; Name=Alpha I; Synonyms=p80-S6K 1; IsoId=P23443-1; Sequence=Displayed; Name=Alpha II; IsoId=P23443-2; Sequence=VSP_018839; Widely expressed. The autoinhibitory domain is believed to block phosphorylation within the AGC-kinase C-terminal domain and the activation loop. The TOS (TOR signaling) motif is essential for activation by mTORC1 (By similarity). Phosphorylation at Thr-412 is regulated by mTORC1. The phosphorylation at this site is maintained by an agonist-dependent autophosphorylation mechanism (By similarity). Activated by phosphorylation at Thr-252 by PDPK1. Dephosphorylation by PPP1CC at Thr-412 in mitochondrion. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. S6 kinase subfamily. Contains 1 AGC-kinase C-terminal domain. Contains 1 protein kinase domain. G1/S transition of mitotic cell cycle nucleotide binding protein kinase activity protein serine/threonine kinase activity ribosomal protein S6 kinase activity protein serine/threonine/tyrosine kinase activity protein binding ATP binding nucleus nucleoplasm cytoplasm mitochondrion mitochondrial outer membrane cytosol regulation of translation protein phosphorylation apoptotic process cell cycle signal transduction membrane kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation cell junction response to nutrient levels TOR signaling cellular response to insulin stimulus intracellular signal transduction neuron projection negative regulation of apoptotic process long-chain fatty acid import synapse positive regulation of translation positive regulation of mitotic cell cycle positive regulation of translational initiation negative regulation of insulin receptor signaling pathway phosphatidylinositol-mediated signaling cellular response to growth factor stimulus uc002ixy.1 uc002ixy.2 uc002ixy.3 uc002ixy.4 uc002ixy.5 uc002ixy.6 
ENST00000225603.9 CBX1 ENST00000225603.9 Homo sapiens chromobox 1 (CBX1), transcript variant 2, mRNA. (from RefSeq NM_001127228) ENST00000225603.1 ENST00000225603.2 ENST00000225603.3 ENST00000225603.4 ENST00000225603.5 ENST00000225603.6 ENST00000225603.7 ENST00000225603.8 NM_001127228 Q6IBN6 Q6IBN6_HUMAN hCG_2000655 uc002ine.1 uc002ine.2 uc002ine.3 uc002ine.4 uc002ine.5 This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family . The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The protein may play an important role in the epigenetic control of chromatin structure and gene expression. Several related pseudogenes are located on chromosomes 1, 3, and X. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]. chromatin female pronucleus male pronucleus nucleus pericentric heterochromatin chromocenter identical protein binding protein homodimerization activity negative regulation of transcription, DNA-templated uc002ine.1 uc002ine.2 uc002ine.3 uc002ine.4 uc002ine.5 
ENST00000225609.10 PIGL ENST00000225609.10 Homo sapiens phosphatidylinositol glycan anchor biosynthesis class L (PIGL), mRNA. (from RefSeq NM_004278) A8KA67 ENST00000225609.1 ENST00000225609.2 ENST00000225609.3 ENST00000225609.4 ENST00000225609.5 ENST00000225609.6 ENST00000225609.7 ENST00000225609.8 ENST00000225609.9 NM_004278 PIGL_HUMAN Q9Y2B2 uc002gpv.1 uc002gpv.2 uc002gpv.3 uc002gpv.4 uc002gpv.5 This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AK292932.1, SRR1660809.72037.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225609.10/ ENSP00000225609.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Involved in the second step of GPI biosynthesis. De-N- acetylation of N-acetylglucosaminyl-phosphatidylinositol. 6-(N-acetyl-alpha-D-glucosaminyl)-1- phosphatidyl-1D-myo-inositol + H(2)O = 6-(alpha-D-glucosaminyl)-1- phosphatidyl-1D-myo-inositol + acetate. Glycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis. Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity). Defects in PIGL are the cause of coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies syndrome (CHIME) [MIM:280000]. An extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies including conductive hearing loss. Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties. Belongs to the PIGL family. N-acetylglucosaminylphosphatidylinositol deacetylase activity endoplasmic reticulum endoplasmic reticulum membrane GPI anchor biosynthetic process membrane integral component of membrane preassembly of GPI anchor in ER membrane hydrolase activity uc002gpv.1 uc002gpv.2 uc002gpv.3 uc002gpv.4 uc002gpv.5 
ENST00000225614.6 GALK1 ENST00000225614.6 Homo sapiens galactokinase 1 (GALK1), transcript variant 2, mRNA. (from RefSeq NM_001381985) ENST00000225614.1 ENST00000225614.2 ENST00000225614.3 ENST00000225614.4 ENST00000225614.5 NM_001381985 V9HWE7 uc032frw.1 uc032frw.2 Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul 2008]. uc032frw.1 uc032frw.2 
ENST00000225655.6 PFN1 ENST00000225655.6 Homo sapiens profilin 1 (PFN1), transcript variant 2, mRNA. (from RefSeq NM_005022) ENST00000225655.1 ENST00000225655.2 ENST00000225655.3 ENST00000225655.4 ENST00000225655.5 NM_005022 P07737 PROF1_HUMAN Q53Y44 uc002gaa.1 uc002gaa.2 uc002gaa.3 uc002gaa.4 uc002gaa.5 uc002gaa.6 This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1. [provided by RefSeq, Jul 2012]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189658.11029.1, SRR1163657.160382.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225655.6/ ENSP00000225655.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. Inhibits androgen receptor (AR) and HTT aggregation and binding of G-actin is essential for its inhibition of AR. Occurs in many kinds of cells as a complex with monomeric actin in a 1:1 ratio. Found in a complex with XPO6, Ran, ACTB and PFN1. Interacts with VASP. Interacts with HTT. Q92558:WASF1; NbExp=2; IntAct=EBI-713780, EBI-1548747; O08816:Wasl (xeno); NbExp=4; IntAct=EBI-713780, EBI-6142604; Cytoplasm, cytoskeleton. Expressed in epididymis (at protein level). Phosphorylation at Ser-138 reduces its affinity for G-actin and blocks its interaction with HTT, reducing its ability to inhibit androgen receptor (AR) and HTT aggregation. Belongs to the profilin family. adenyl-nucleotide exchange factor activity neural tube closure RNA binding actin binding actin monomer binding protein binding phosphatidylinositol-4,5-bisphosphate binding nucleus cytoplasm cytosol cytoskeleton focal adhesion cell cortex regulation of transcription from RNA polymerase II promoter positive regulation of epithelial cell migration membrane Rho GTPase binding actin cytoskeleton organization regulation of actin filament polymerization negative regulation of actin filament polymerization positive regulation of actin filament polymerization negative regulation of actin filament bundle assembly positive regulation of actin filament bundle assembly positive regulation of ATPase activity cadherin binding protein stabilization negative regulation of stress fiber assembly Wnt signaling pathway, planar cell polarity pathway synapse maturation extracellular exosome proline-rich region binding blood microparticle modification of postsynaptic actin cytoskeleton glutamatergic synapse positive regulation of ruffle assembly uc002gaa.1 uc002gaa.2 uc002gaa.3 uc002gaa.4 uc002gaa.5 uc002gaa.6 
ENST00000225665.12 SLC25A11 ENST00000225665.12 Homo sapiens solute carrier family 25 member 11 (SLC25A11), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_003562) ENST00000225665.1 ENST00000225665.10 ENST00000225665.11 ENST00000225665.2 ENST00000225665.3 ENST00000225665.4 ENST00000225665.5 ENST00000225665.6 ENST00000225665.7 ENST00000225665.8 ENST00000225665.9 NM_003562 Q6IBH0 Q6IBH0_HUMAN hCG_32694 uc002fzo.1 uc002fzo.2 uc002fzo.3 uc002fzo.4 The oxoglutarate/malate carrier transports 2-oxoglutarate across the inner membranes of mitochondria in an electroneutral exchange for malate or other dicarboxylic acids (summary by Iacobazzi et al., 1992 [PubMed 1457818]).[supplied by OMIM, Jan 2011]. Belongs to the mitochondrial carrier family. membrane integral component of membrane uc002fzo.1 uc002fzo.2 uc002fzo.3 uc002fzo.4 
ENST00000225688.4 RASD1 ENST00000225688.4 Homo sapiens ras related dexamethasone induced 1 (RASD1), transcript variant 1, mRNA. (from RefSeq NM_016084) AGS1 B2R709 DEXRAS1 ENST00000225688.1 ENST00000225688.2 ENST00000225688.3 NM_016084 Q9NYB4 Q9Y272 RASD1_HUMAN uc002gri.1 uc002gri.2 uc002gri.3 uc002gri.4 uc002gri.5 This gene encodes a member of the Ras superfamily of small GTPases and is induced by dexamethasone. The encoded protein is an activator of G-protein signaling and acts as a direct nucleotide exchange factor for Gi-Go proteins. This protein interacts with the neuronal nitric oxide adaptor protein CAPON, and a nuclear adaptor protein FE65, which interacts with the Alzheimer's disease amyloid precursor protein. This gene may play a role in dexamethasone-induced alterations in cell morphology, growth and cell-extracellular matrix interactions. Epigenetic inactivation of this gene is closely correlated with resistance to dexamethasone in multiple myeloma cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2011]. Small GTPase. Negatively regulates the transcription regulation activity of the APBB1/FE65-APP complex via its interaction with APBB1/FE65 (By similarity). Forms a ternary complex with CAPON and NOS1. Component of a complex, at least composed of APBB1, RASD1/DEXRAS1 and APP. Interacts with APBB1/FE65 (By similarity). Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Cytoplasm, perinuclear region (By similarity). Nucleus (By similarity). Expressed in a variety of tissues including heart, cardiovascular tissues, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, gastrointestinal and reproductive tissues. By dexamethasone. S-nitrosylation stimulates guanine-nucleotide exchange activity. Belongs to the small GTPase superfamily. RasD family. nucleotide binding GTPase activity protein binding GTP binding nucleus cytoplasm plasma membrane signal transduction G-protein coupled receptor signaling pathway nitric oxide mediated signal transduction membrane sarcoplasmic reticulum negative regulation of transcription, DNA-templated perinuclear region of cytoplasm uc002gri.1 uc002gri.2 uc002gri.3 uc002gri.4 uc002gri.5 
ENST00000225698.8 C1QBP ENST00000225698.8 Homo sapiens complement C1q binding protein (C1QBP), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001212) C1QBP_HUMAN ENST00000225698.1 ENST00000225698.2 ENST00000225698.3 ENST00000225698.4 ENST00000225698.5 ENST00000225698.6 ENST00000225698.7 GC1QBP HABP1 NM_001212 Q07021 Q2HXR8 Q9NNY8 SF2P32 uc002gby.1 uc002gby.2 The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.675649.1, SRR1163655.239161.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03267753, SAMN03267760 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000225698.8/ ENSP00000225698.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds to the globular "heads" of C1Q thus inhibiting C1 activation. Interacts with Rubella virus capsid protein. Interacts with HIV-1 Tat. Interacts with CDK13. Interacts with HRK. Mitochondrion matrix. Nucleus. Note=Might also be nuclear in some cell types. Belongs to the MAM33 family. Was originally (PubMed:1830244 and PubMed:8262387) thought to be a pre-mRNA splicing factor SF2 p32 subunit and to play a role in preventing exon skipping, ensuring the accuracy of splicing and regulating alternative splicing. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/c1qbp/"; negative regulation of transcription from RNA polymerase II promoter complement component C1q binding adaptive immune response immune system process transcription corepressor activity mRNA binding protein kinase C binding protein binding hyaluronic acid binding extracellular region extracellular space nucleus nucleolus cytoplasm mitochondrion mitochondrial matrix cytosol plasma membrane mRNA processing apoptotic process immune response complement activation, classical pathway blood coagulation, intrinsic pathway transcription factor binding RNA splicing translation activator activity cell surface phosphatidylinositol 3-kinase signaling membrane viral process regulation of complement activation kininogen binding adrenergic receptor binding negative regulation of interferon-gamma production negative regulation of interleukin-12 production negative regulation of MDA-5 signaling pathway negative regulation of RIG-I signaling pathway ribosome biogenesis mature ribosome assembly positive regulation of apoptotic process innate immune response positive regulation of cell adhesion negative regulation of mRNA splicing, via spliceosome presynaptic active zone negative regulation of defense response to virus positive regulation of protein kinase B signaling positive regulation of mitochondrial translation positive regulation of neutrophil chemotaxis mitochondrial ribosome binding presynapse glutamatergic synapse GABA-ergic synapse positive regulation of substrate adhesion-dependent cell spreading positive regulation of trophoblast cell migration positive regulation of dendritic cell chemotaxis uc002gby.1 uc002gby.2 
ENST00000225719.9 CPD ENST00000225719.9 Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA. (from RefSeq NM_001304) CBPD_HUMAN ENST00000225719.1 ENST00000225719.2 ENST00000225719.3 ENST00000225719.4 ENST00000225719.5 ENST00000225719.6 ENST00000225719.7 ENST00000225719.8 NM_001304 O15377 O75976 Q86SH9 Q86XE6 uc002hfb.1 uc002hfb.2 uc002hfb.3 uc002hfb.4 The metallocarboxypeptidase family of enzymes is divided into 2 subfamilies based on sequence similarities. The pancreatic carboxypeptidase-like and the regulatory B-type carboxypeptidase subfamilies. Carboxypeptidase D has been identified as a regulatory B-type carboxypeptidase. CPD is a homolog of duck gp180, a hepatitis B virus-binding protein. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Jul 2008]. Releases C-terminal Arg and Lys from polypeptides. Binds 2 zinc ions per subunit (By similarity). pH dependence: Optimum pH is 6.0-6.5; Membrane; Single-pass type I membrane protein (Potential). Highly expressed in placenta, pancreas and hepatoma cells. Lower levels found in skeletal muscle, heart and colon carcinoma and melanoma cell lines. There are 3 carboxypeptidase-like domains. Only the first two domains seem to have kept a catalytic activity. Belongs to the peptidase M14 family. carboxypeptidase activity metallocarboxypeptidase activity serine-type carboxypeptidase activity extracellular space plasma membrane proteolysis peptide metabolic process peptidase activity metallopeptidase activity zinc ion binding membrane integral component of membrane protein processing hydrolase activity metal ion binding extracellular exosome uc002hfb.1 uc002hfb.2 uc002hfb.3 uc002hfb.4 
ENST00000225724.9 GOSR1 ENST00000225724.9 Homo sapiens golgi SNAP receptor complex member 1 (GOSR1), transcript variant 1, mRNA. (from RefSeq NM_004871) ENST00000225724.1 ENST00000225724.2 ENST00000225724.3 ENST00000225724.4 ENST00000225724.5 ENST00000225724.6 ENST00000225724.7 ENST00000225724.8 GOSR1_HUMAN GS28 NM_004871 O75392 O95249 uc002hfe.1 uc002hfe.2 uc002hfe.3 uc002hfe.4 This gene encodes a trafficking membrane protein which transports proteins among the endoplasmic reticulum and the Golgi and between Golgi compartments. This protein is considered an essential component of the Golgi SNAP receptor (SNARE) complex. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Involved in transport from the ER to the Golgi apparatus as well as in intra-Golgi transport. It belongs to a super-family of proteins called t-SNAREs or soluble NSF (N-ethylmaleimide- sensitive factor) attachment protein receptor. May play a protective role against hydrogen peroxide induced cytotoxicity under glutathione depleted conditions in neuronal cells by regulating the intracellular ROS levels via inhibition of p38 MAPK (MAPK11, MAPK12, MAPK13 and MAPK14). Participates in docking and fusion stage of ER to cis-Golgi transport. Plays an important physiological role in VLDL-transport vesicle-Golgi fusion and thus in VLDL delivery to the hepatic cis-Golgi. Component of several multiprotein Golgi SNARE complexes. Identified in a SNARE complex with BET1, STX5 and YKT6, in a SNARE complex with BET1L, STX5 and YKT6, in a SNARE complex with STX5, GOSR2, SEC22B and BET1, and in complex with STX5 and COG3. Interacts with GABARAPL2 (By similarity). Golgi apparatus membrane; Single-pass type IV membrane protein. Note=Enriched on vesicular components at the terminal rims of the Golgi. Found in Golgi microtubules at low temperature (15 degrees Celsius). Expression induced by hydrogen peroxide in neuronal cells. By monocrotaline in pulmonary epithelial cells (at protein level). Negatively regulated by OSBPL7 via GABARAPL2 leading to degradation on proteasomes (at protein level). Belongs to the GOSR1 family. Golgi membrane SNAP receptor activity Golgi apparatus Golgi medial cisterna cis-Golgi network cytosol ER to Golgi vesicle-mediated transport intra-Golgi vesicle-mediated transport vesicle fusion protein transport membrane integral component of membrane vesicle-mediated transport transport vesicle SNARE complex retrograde transport, endosome to Golgi regulation of vesicle targeting, to, from or within Golgi uc002hfe.1 uc002hfe.2 uc002hfe.3 uc002hfe.4 
ENST00000225726.10 CCDC47 ENST00000225726.10 Homo sapiens coiled-coil domain containing 47 (CCDC47), mRNA. (from RefSeq NM_020198) B2RAS8 CCD47_HUMAN D3DU20 ENST00000225726.1 ENST00000225726.2 ENST00000225726.3 ENST00000225726.4 ENST00000225726.5 ENST00000225726.6 ENST00000225726.7 ENST00000225726.8 ENST00000225726.9 GK001 MSTP041 NM_020198 PSEC0077 Q96A33 Q96D00 Q96JZ7 Q9H3E4 Q9NRG3 uc002jbs.1 uc002jbs.2 uc002jbs.3 uc002jbs.4 uc002jbs.5 uc002jbs.6 Q99J34:Irak1 (xeno); NbExp=2; IntAct=EBI-720151, EBI-6117042; Q92985:IRF7; NbExp=2; IntAct=EBI-720151, EBI-968267; Q6PDS3:Sarm1 (xeno); NbExp=2; IntAct=EBI-720151, EBI-6117196; P58753:TIRAP; NbExp=2; IntAct=EBI-720151, EBI-528644; Q86WV6:TMEM173; NbExp=2; IntAct=EBI-720151, EBI-2800345; Membrane; Single-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96A33-1; Sequence=Displayed; Name=2; IsoId=Q96A33-2; Sequence=VSP_018478; Sequence=AAG39292.1; Type=Frameshift; Positions=306; osteoblast differentiation RNA binding calcium ion binding protein binding endoplasmic reticulum endoplasmic reticulum membrane rough endoplasmic reticulum ER overload response endoplasmic reticulum organization post-embryonic development membrane integral component of membrane ER-associated ubiquitin-dependent protein catabolic process rough endoplasmic reticulum membrane endoplasmic reticulum calcium ion homeostasis ERAD pathway calcium ion homeostasis uc002jbs.1 uc002jbs.2 uc002jbs.3 uc002jbs.4 uc002jbs.5 uc002jbs.6 
ENST00000225728.8 MED31 ENST00000225728.8 Homo sapiens mediator complex subunit 31 (MED31), mRNA. (from RefSeq NM_016060) B2R4L9 CGI-125 ENST00000225728.1 ENST00000225728.2 ENST00000225728.3 ENST00000225728.4 ENST00000225728.5 ENST00000225728.6 ENST00000225728.7 MED31_HUMAN NM_016060 Q9Y3C7 SOH1 uc002gdg.1 uc002gdg.2 uc002gdg.3 uc002gdg.4 uc002gdg.5 uc002gdg.6 Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. O95257:GADD45G; NbExp=2; IntAct=EBI-394707, EBI-448202; P42858:HTT; NbExp=3; IntAct=EBI-394707, EBI-466029; Nucleus (Probable). Belongs to the Mediator complex subunit 31 family. ubiquitin ligase complex transcription cofactor activity transcription coactivator activity protein binding nucleus nucleoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter protein ubiquitination mediator complex negative regulation of fibroblast proliferation limb development ubiquitin protein ligase activity core mediator complex positive regulation of nucleic acid-templated transcription uc002gdg.1 uc002gdg.2 uc002gdg.3 uc002gdg.4 uc002gdg.5 uc002gdg.6 
ENST00000225729.8 DRG2 ENST00000225729.8 Homo sapiens developmentally regulated GTP binding protein 2 (DRG2), transcript variant 1, mRNA. (from RefSeq NM_001388) B2R8G5 DRG2_HUMAN ENST00000225729.1 ENST00000225729.2 ENST00000225729.3 ENST00000225729.4 ENST00000225729.5 ENST00000225729.6 ENST00000225729.7 NM_001388 P55039 Q53Y50 Q9BWB2 uc002gsh.1 uc002gsh.2 uc002gsh.3 uc002gsh.4 This gene encodes a GTP-binding protein known to function in the regulation of cell growth and differentiation. Read-through transcripts containing this gene and a downstream gene have been identified, but they are not thought to encode a fusion protein. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jan 2012]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.932256.1, SRR3476690.882587.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225729.8/ ENSP00000225729.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## May play a role in cell proliferation, differentiation and death. Interacts with RWDD1 (By similarity). Cytoplasm. Highest levels in skeletal muscle, heart and kidney. Low levels in colon, thymus, spleen, small intestine, lung and Leukocytes. Polyubiquitinated; which induces proteolytic degradation and is impaired by interaction with RWDD1 (By similarity). Belongs to the GTP1/OBG family. Contains 1 G (guanine nucleotide-binding) domain. nucleotide binding cytoplasmic translation RNA binding GTPase activity protein binding GTP binding nucleus nucleoplasm cytoplasm cytosol signal transduction membrane hydrolase activity intracellular membrane-bounded organelle metal ion binding uc002gsh.1 uc002gsh.2 uc002gsh.3 uc002gsh.4 
ENST00000225737.11 AKAP10 ENST00000225737.11 Homo sapiens A-kinase anchoring protein 10 (AKAP10), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_007202) AKA10_HUMAN B2R650 ENST00000225737.1 ENST00000225737.10 ENST00000225737.2 ENST00000225737.3 ENST00000225737.4 ENST00000225737.5 ENST00000225737.6 ENST00000225737.7 ENST00000225737.8 ENST00000225737.9 NM_007202 O43572 Q96AJ7 uc002gwo.1 uc002gwo.2 uc002gwo.3 uc002gwo.4 uc002gwo.5 uc002gwo.6 This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins bind to the regulatory subunits of protein kinase A (PKA) and confine the holoenzyme to discrete locations within the cell. The encoded protein is localized to mitochondria and interacts with both the type I and type II regulatory subunits of PKA. Polymorphisms in this gene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 2012]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660807.256198.1, SRR1803612.244754.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000225737.11/ ENSP00000225737.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Differentially targeted protein that binds to type I and II regulatory subunits of protein kinase A and anchors them to the mitochondria or the plasma membrane. Although the physiological relevance between PKA and AKAPS with mitochondria is not fully understood, one idea is that BAD, a proapoptotic member, is phosphorylated and inactivated by mitochondria-anchored PKA. It cannot be excluded too that it may facilitate PKA as well as G protein signal transduction, by acting as an adapter for assembling multiprotein complexes. With its RGS domain, it could lead to the interaction to G-alpha proteins, providing a link between the signaling machinery and the downstream kinase (By similarity). Mitochondrion. Membrane. Cytoplasm. Note=Predominantly mitochondrial but also membrane associated and cytoplasmic. RII-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer. Genetic variations in AKAP10 are a cause of susceptibility to sudden cardiac death (SCD) [MIM:115080]. Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as chest pain and cardiac arrhythmias, particularly ventricular tachycardia, can lead to the loss of consciousness and cardiac arrest followed by biological death. Note=Increased susceptibility to sudden cardiac death may be conferred by AKAP10 variants that are associated with markers of low vagus nerve sensitivity, e.g. fast basal heart rate and low heart rate variability. Contains 2 RGS domains. protein binding cytoplasm mitochondrion cytosol plasma membrane signal transduction blood coagulation protein localization membrane macromolecular complex protein kinase A binding uc002gwo.1 uc002gwo.2 uc002gwo.3 uc002gwo.4 uc002gwo.5 uc002gwo.6 
ENST00000225740.11 ALDH3A1 ENST00000225740.11 Homo sapiens aldehyde dehydrogenase 3 family member A1 (ALDH3A1), transcript variant 2, mRNA. (from RefSeq NM_000691) A8K828 AL3A1_HUMAN ALDH3 ENST00000225740.1 ENST00000225740.10 ENST00000225740.2 ENST00000225740.3 ENST00000225740.4 ENST00000225740.5 ENST00000225740.6 ENST00000225740.7 ENST00000225740.8 ENST00000225740.9 NM_000691 P30838 Q9BT37 uc002gwj.1 uc002gwj.2 uc002gwj.3 uc002gwj.4 uc002gwj.5 Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008]. ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde. They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. This protein preferentially oxidizes aromatic aldehyde substrates. It may play a role in the oxidation of toxic aldehydes. An aldehyde + NAD(P)(+) + H(2)O = a carboxylate + NAD(P)H. Kinetic parameters: Note=Has a high Km for acetaldehyde; Homodimer. Cytoplasm. High levels in stomach, esophagus and lung; low level in the liver and kidney. Belongs to the aldehyde dehydrogenase family. response to hypoxia 3-chloroallyl aldehyde dehydrogenase activity aldehyde dehydrogenase (NAD) activity aldehyde dehydrogenase [NAD(P)+] activity protein binding extracellular space cytoplasm endoplasmic reticulum cytosol plasma membrane cellular aldehyde metabolic process xenobiotic metabolic process aging response to nutrient alcohol dehydrogenase (NADP+) activity positive regulation of cell proliferation response to organic cyclic compound integral component of membrane oxidoreductase activity oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor benzaldehyde dehydrogenase (NAD+) activity response to drug response to glucocorticoid response to cAMP oxidation-reduction process uc002gwj.1 uc002gwj.2 uc002gwj.3 uc002gwj.4 uc002gwj.5 
ENST00000225831.4 CCL2 ENST00000225831.4 Homo sapiens C-C motif chemokine ligand 2 (CCL2), mRNA. (from RefSeq NM_002982) B2R4V3 CCL2_HUMAN ENST00000225831.1 ENST00000225831.2 ENST00000225831.3 MCP1 NM_002982 P13500 Q9UDF3 SCYA2 uc002hhy.1 uc002hhy.2 uc002hhy.3 uc002hhy.4 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Chemokines are a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes and basophils but not for neutrophils or eosinophils. It has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis and atherosclerosis. It binds to chemokine receptors CCR2 and CCR4. [provided by RefSeq, Jul 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189652.15518.1, SRR5189652.174085.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225831.4/ ENSP00000225831.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Chemotactic factor that attracts monocytes and basophils but not neutrophils or eosinophils. Augments monocyte anti-tumor activity. Has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis or atherosclerosis. May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis. Monomer or homodimer; in equilibrium. Binds to CCR2 and CCR4. Is tethered on endothelial cells by glycosaminoglycan (GAG) side chains of proteoglycans. Secreted. Processing at the N-terminus can regulate receptor and target cell selectivity. Deletion of the N-terminal residue converts it from an activator of basophil to an eosinophil chemoattractant. Genetic variations in CCL2 determine Mycobacterium tuberculosis susceptibility [MIM:607948]. Belongs to the intercrine beta (chemokine CC) family. Name=Wikipedia; Note=CCL2 entry; URL="http://en.wikipedia.org/wiki/CCL2"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/scya2/"; MAPK cascade angiogenesis monocyte chemotaxis protein kinase activity receptor binding cytokine activity protein binding extracellular region extracellular space cell protein phosphorylation chemotaxis inflammatory response immune response humoral immune response cytoskeleton organization cell adhesion signal transduction cell surface receptor signaling pathway G-protein coupled receptor signaling pathway G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger JAK-STAT cascade chemokine activity regulation of cell shape response to bacterium animal organ morphogenesis viral genome replication cytokine-mediated signaling pathway sensory perception of pain cellular homeostasis neutrophil chemotaxis lipopolysaccharide-mediated signaling pathway CCR2 chemokine receptor binding negative regulation of glial cell apoptotic process helper T cell extravasation PERK-mediated unfolded protein response protein kinase B signaling negative regulation of neuron apoptotic process positive regulation of GTPase activity astrocyte cell migration cellular response to fibroblast growth factor stimulus CCR chemokine receptor binding eosinophil chemotaxis macrophage chemotaxis lymphocyte chemotaxis positive regulation of T cell activation positive regulation of nitric-oxide synthase biosynthetic process positive regulation of synaptic transmission, glutamatergic chemokine-mediated signaling pathway positive regulation of ERK1 and ERK2 cascade cellular response to lipopolysaccharide cellular response to interferon-gamma cellular response to interleukin-1 cellular response to tumor necrosis factor cellular response to organic cyclic compound positive regulation of calcium ion import positive regulation of NMDA glutamate receptor activity negative regulation of vascular endothelial cell proliferation negative regulation of G1/S transition of mitotic cell cycle positive regulation of endothelial cell apoptotic process positive regulation of apoptotic cell clearance negative regulation of natural killer cell chemotaxis uc002hhy.1 uc002hhy.2 uc002hhy.3 uc002hhy.4 
ENST00000225842.4 CCL1 ENST00000225842.4 Homo sapiens C-C motif chemokine ligand 1 (CCL1), mRNA. (from RefSeq NM_002981) B2R5G9 CCL1_HUMAN ENST00000225842.1 ENST00000225842.2 ENST00000225842.3 NM_002981 P22362 Q2M309 SCYA1 uc002hid.1 uc002hid.2 uc002hid.3 uc002hid.4 This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, is secreted by activated T cells and displays chemotactic activity for monocytes but not for neutrophils. It binds to the chemokine (C-C motif) receptor 8. [provided by RefSeq, Sep 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DA620119.1, BX093610.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225842.4/ ENSP00000225842.3 Protein has antimicrobial activity :: PMID: 12949249 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Cytokine that is chemotactic for monocytes but not for neutrophils. Binds to CCR8. Monomer. Secreted. By phorbol myristate acetate (PMA). Belongs to the intercrine beta (chemokine CC) family. Name=Wikipedia; Note=CCL1 entry; URL="http://en.wikipedia.org/wiki/CCL1"; monocyte chemotaxis cytokine activity extracellular region extracellular space cell cellular calcium ion homeostasis chemotaxis inflammatory response immune response signal transduction G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration chemokine activity viral process neutrophil chemotaxis killing of cells of other organism positive regulation of GTPase activity CCR chemokine receptor binding eosinophil chemotaxis lymphocyte chemotaxis positive regulation of inflammatory response chemokine-mediated signaling pathway positive regulation of ERK1 and ERK2 cascade cellular response to interferon-gamma cellular response to interleukin-1 cellular response to tumor necrosis factor positive regulation of monocyte chemotaxis positive regulation of interleukin-17 secretion uc002hid.1 uc002hid.2 uc002hid.3 uc002hid.4 
ENST00000225844.7 CCL13 ENST00000225844.7 Homo sapiens C-C motif chemokine ligand 13 (CCL13), mRNA. (from RefSeq NM_005408) CCL13_HUMAN ENST00000225844.1 ENST00000225844.2 ENST00000225844.3 ENST00000225844.4 ENST00000225844.5 ENST00000225844.6 MCP4 NCC1 NM_005408 O95689 Q6ICQ6 Q99616 SCYA13 uc002hic.1 uc002hic.2 uc002hic.3 uc002hic.4 This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. This chemokine plays a role in accumulation of leukocytes during inflammation. It may also be involved in the recruitment of monocytes into the arterial wall during artherosclerosis. [provided by RefSeq, Sep 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AJ001634.1, U59808.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225844.7/ ENSP00000225844.2 Protein has antimicrobial activity :: PMID: 12949249 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Chemotactic factor that attracts monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. Signals through CCR2B and CCR3 receptors. Plays a role in the accumulation of leukocytes at both sides of allergic and non-allergic inflammation. May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis. May play a role in the monocyte attraction in tissues chronically exposed to exogenous pathogens. Secreted. Widely expressed. Found in small intestine, thymus, colon, lung, trachea, stomach and lymph node. Low levels seen in the pulmonary artery smooth muscle cells. By IL1/interleukin-1 and TNF. One major form (form long), and two minor forms (short chain and medium chain) are produced by differential signal peptide cleavage. The medium chain is about 30-fold less active than the long chain. Mass=9314; Mass_error=30; Method=MALDI; Range=17-98; Source=PubMed:8642349; Mass=8760; Mass_error=30; Method=MALDI; Range=22-98; Source=PubMed:8642349; Mass=8575; Mass_error=30; Method=MALDI; Range=24-98; Source=PubMed:8642349; This protein can bind heparin. Belongs to the intercrine beta (chemokine CC) family. Name=Wikipedia; Note=CCL13 entry; URL="http://en.wikipedia.org/wiki/CCL13"; monocyte chemotaxis receptor binding cytokine activity protein binding extracellular region extracellular space cell cellular calcium ion homeostasis chemotaxis inflammatory response immune response cytoskeleton organization signal transduction G-protein coupled receptor signaling pathway cell-cell signaling chemokine activity regulation of cell shape neutrophil chemotaxis killing of cells of other organism positive regulation of GTPase activity CCR chemokine receptor binding eosinophil chemotaxis lymphocyte chemotaxis chemokine-mediated signaling pathway positive regulation of ERK1 and ERK2 cascade cellular response to interferon-gamma cellular response to interleukin-1 cellular response to tumor necrosis factor uc002hic.1 uc002hic.2 uc002hic.3 uc002hic.4 
ENST00000225873.9 PEX12 ENST00000225873.9 Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA. (from RefSeq NM_000286) B2R6M2 ENST00000225873.1 ENST00000225873.2 ENST00000225873.3 ENST00000225873.4 ENST00000225873.5 ENST00000225873.6 ENST00000225873.7 ENST00000225873.8 NM_000286 O00623 PAF3 PEX12_HUMAN uc002hjp.1 uc002hjp.2 uc002hjp.3 uc002hjp.4 uc002hjp.5 This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.856607.1, SRR1660805.145609.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225873.9/ ENSP00000225873.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Required for protein import into peroxisomes. Interacts with PEX5 and PEX10. Interacts with PEX19 via its cytoplasmic domain. P40855:PEX19; NbExp=2; IntAct=EBI-594836, EBI-594747; P50542:PEX5; NbExp=3; IntAct=EBI-594836, EBI-597835; Peroxisome membrane; Multi-pass membrane protein. Defects in PEX12 are the cause of peroxisome biogenesis disorder complementation group 3 (PBD-CG3) [MIM:601758]. PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum. The PBD group is genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Defects in PEX12 are a cause of Zellweger syndrome (ZWS) [MIM:214100]. ZWS is a fatal peroxisome biogenesis disorder characterized by dysmorphic facial features, hepatomegaly, ocular abnormalities, renal cysts, hearing impairment, profound psychomotor retardation, severe hypotonia and neonatal seizures. Death occurs within the first year of life. Belongs to the pex2/pex10/pex12 family. Contains 1 RING-type zinc finger. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PEX12"; Name=dbPEX, PEX Gene Database; URL="http://www.dbpex.org/home.php?select_db=PEX12"; ubiquitin-protein transferase activity protein binding peroxisome peroxisomal membrane integral component of peroxisomal membrane protein monoubiquitination protein targeting to peroxisome peroxisome organization protein C-terminus binding zinc ion binding membrane integral component of membrane protein import into peroxisome matrix protein ubiquitination metal ion binding peroxisomal importomer complex uc002hjp.1 uc002hjp.2 uc002hjp.3 uc002hjp.4 uc002hjp.5 
ENST00000225899.4 KRT32 ENST00000225899.4 Homo sapiens keratin 32 (KRT32), mRNA. (from RefSeq NM_002278) ENST00000225899.1 ENST00000225899.2 ENST00000225899.3 HHA2 HKA2 K1H2_HUMAN KRTHA2 NM_002278 Q14532 uc002hwr.1 uc002hwr.2 uc002hwr.3 uc002hwr.4 uc002hwr.5 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: X81419.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2147975, SAMEA2156670 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Restricted to the hair cuticle. There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic). Belongs to the intermediate filament family. Sequence=CAA57179.1; Type=Erroneous initiation; Note=Translation N-terminally extended; structural molecule activity cytosol intermediate filament epidermis development keratinization extracellular exosome cornification uc002hwr.1 uc002hwr.2 uc002hwr.3 uc002hwr.4 uc002hwr.5 
ENST00000225916.10 KAT2A ENST00000225916.10 Homo sapiens lysine acetyltransferase 2A (KAT2A), transcript variant 1, mRNA. (from RefSeq NM_021078) ENST00000225916.1 ENST00000225916.2 ENST00000225916.3 ENST00000225916.4 ENST00000225916.5 ENST00000225916.6 ENST00000225916.7 ENST00000225916.8 ENST00000225916.9 GCN5 GCN5L2 HGCN5 KAT2A_HUMAN NM_021078 Q8N1A2 Q92830 Q9UCW1 uc002hyx.1 uc002hyx.2 uc002hyx.3 uc002hyx.4 KAT2A, or GCN5, is a histone acetyltransferase (HAT) that functions primarily as a transcriptional activator. It also functions as a repressor of NF-kappa-B (see MIM 164011) by promoting ubiquitination of the NF-kappa-B subunit RELA (MIM 164014) in a HAT-independent manner (Mao et al., 2009 [PubMed 19339690]).[supplied by OMIM, Sep 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC039907.1, BC032743.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225916.10/ ENSP00000225916.5 RefSeq Select criteria :: based on conservation ##RefSeq-Attributes-END## Functions as a histone acetyltransferase (HAT) to promote transcriptional activation. Acetylation of histones gives a specific tag for epigenetic transcription activation. Has significant histone acetyltransferase activity with core histones, but not with nucleosome core particles. In case of HIV-1 infection, it is recruited by the viral protein Tat. Regulates Tat's transactivating activity and may help inducing chromatin remodeling of proviral genes. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. Acetyl-CoA + [histone] = CoA + acetyl- [histone]. Interacts with EP300, CREBBP and ADA2. Component of the TFTC-HAT complex, at least composed of TAF5L, TAF6L, TAF3, TADA3L, SUPT3H/SPT3, TAF2/TAFII150, TAF4/TAFII135, TAF5/TAFII100, KAT2A/GCN5L2, TAF10 and TRRAP. Interacts with TRRAP. Component of the STAGA transcription coactivator-HAT complex, at least composed of SUPT3H, KAT2A, SUPT7L, TAF5L, TAF6L, TADA3L, TAD1L, TAF10, TAF12, TRRAP and TAF9. The STAGA core complex is associated with a subcomplex required for histone deubiquitination composed of ATXN7L3, ENY2 and USP22. Interacts with and acetylates HIV-1 Tat. Component of the ADA2A-containing complex (ATAC), composed of CSRP2BP, KAT2A, TADA2L, TADA3L, ZZ3, MBIP, WDR5, YEATS2, CCDC101 and DR1. In the complex, it probably interacts directly with CSRP2BP, MBIP and WDR5. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=GCN5-L; IsoId=Q92830-1; Sequence=Displayed; Name=2; Synonyms=GCN5-S; IsoId=Q92830-2; Sequence=VSP_000556; Expressed in all tissues tested, with most abundant expression in ovary. Belongs to the GCN5 family. Contains 1 bromo domain. Contains 1 N-acetyltransferase domain. histone acetyltransferase complex nuclear chromatin in utero embryonic development somitogenesis cytokine production neural tube closure chromatin binding transcription coactivator activity histone acetyltransferase activity protein binding extracellular space nucleus nucleoplasm Ada2/Gcn5/Ada3 transcription activator complex chromosome cytoplasm centrosome microtubule organizing center cytoskeleton chromatin remodeling regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter nervous system development heart development long-term memory N-acetyltransferase activity transcription factor binding cell proliferation H3 histone acetyltransferase activity response to organic cyclic compound viral process acetyltransferase activity histone acetylation histone deubiquitination protein deubiquitination transferase activity transferase activity, transferring acyl groups internal peptidyl-lysine acetylation protein phosphatase binding telencephalon development metencephalon development midbrain development STAGA complex positive regulation of cell projection organization regulation of protein stability response to nutrient levels transcription factor TFTC complex positive regulation of histone acetylation multicellular organism growth positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter histone deacetylase binding histone H3 acetylation histone H4-K12 acetylation histone acetyltransferase activity (H4-K12 specific) histone H3-K14 acetylation regulation of regulatory T cell differentiation positive regulation of gene expression, epigenetic positive regulation of transcription from RNA polymerase II promoter negative regulation of centriole replication regulation of synaptic plasticity intracellular distribution of mitochondria regulation of T cell activation limb development peptide-lysine-N-acetyltransferase activity cellular response to tumor necrosis factor alpha-tubulin acetylation mitotic spindle cellular response to nerve growth factor stimulus positive regulation of cardiac muscle cell differentiation oxoglutarate dehydrogenase complex uc002hyx.1 uc002hyx.2 uc002hyx.3 uc002hyx.4 
ENST00000225927.7 NAGLU ENST00000225927.7 Homo sapiens N-acetyl-alpha-glucosaminidase (NAGLU), mRNA. (from RefSeq NM_000263) ANAG_HUMAN ENST00000225927.1 ENST00000225927.2 ENST00000225927.3 ENST00000225927.4 ENST00000225927.5 ENST00000225927.6 NM_000263 P54802 UFHSD1 uc002hzv.1 uc002hzv.2 uc002hzv.3 uc002hzv.4 uc002hzv.5 This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: HM005331.1, U40846.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225927.7/ ENSP00000225927.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Involved in the degradation of heparan sulfate. Hydrolysis of terminal non-reducing N-acetyl- D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Monomer and homodimer. Lysosome. Liver, ovary, peripheral blood leukocytes, testis, prostate, spleen, colon, lung, placenta and kidney. Defects in NAGLU are the cause of mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]; also known as Sanfilippo syndrome B. MPS3B is a form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. A MPS3B mutation at position 100 was erroneously reported (PubMed:9950362) as an amino acid change from Arg to His. The right amino acid change is from His to Arg. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NAGLU"; alpha-N-acetylglucosaminidase activity lysosome glycosaminoglycan catabolic process lysosome organization nervous system development metabolic process hydrolase activity hydrolase activity, acting on glycosyl bonds cerebellar Purkinje cell layer development middle ear morphogenesis lysosomal lumen locomotor rhythm retinal rod cell development inner ear receptor cell development extracellular exosome uc002hzv.1 uc002hzv.2 uc002hzv.3 uc002hzv.4 uc002hzv.5 
ENST00000225941.6 ABI3 ENST00000225941.6 Homo sapiens ABI family member 3 (ABI3), transcript variant 1, mRNA. (from RefSeq NM_016428) ABI3_HUMAN C9IZN8 ENST00000225941.1 ENST00000225941.2 ENST00000225941.3 ENST00000225941.4 ENST00000225941.5 NESH NM_016428 Q9H0P6 Q9P2A4 uc002iop.1 uc002iop.2 This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. May inhibit tumor metastasis (By similarity). In vitro, reduces cell motility. May interact with PAK1 and PAK2. Probably interacts with TARSH. O15372:EIF3H; NbExp=3; IntAct=EBI-742038, EBI-709735; Cytoplasm. Note=Colocalizes with PAK2 at leading edge of cells. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9P2A4-1; Sequence=Displayed; Name=2; IsoId=Q9P2A4-2; Sequence=VSP_041467; Expressed in heart, lung, liver, pancreas, kidney, placenta and at low levels in brain and skeletal muscle. Belongs to the ABI family. Contains 1 SH3 domain. protein binding cytoplasm membrane SH3 domain binding lamellipodium regulation of cell migration identical protein binding peptidyl-tyrosine phosphorylation uc002iop.1 uc002iop.2 
ENST00000225964.10 COL1A1 ENST00000225964.10 Homo sapiens collagen type I alpha 1 chain (COL1A1), mRNA. (from RefSeq NM_000088) CO1A1_HUMAN ENST00000225964.1 ENST00000225964.2 ENST00000225964.3 ENST00000225964.4 ENST00000225964.5 ENST00000225964.6 ENST00000225964.7 ENST00000225964.8 ENST00000225964.9 NM_000088 O76045 P02452 P78441 Q13896 Q13902 Q13903 Q14037 Q14992 Q15176 Q15201 Q16050 Q59F64 Q7KZ30 Q7KZ34 Q8IVI5 Q8N473 Q9UML6 Q9UMM7 uc002iqm.1 uc002iqm.2 uc002iqm.3 uc002iqm.4 uc002iqm.5 This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: Z74615.1, AB209597.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225964.10/ ENSP00000225964.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Type I collagen is a member of group I collagen (fibrillar forming collagen). Trimers of one alpha 2(I) and two alpha 1(I) chains. Interacts with MRC2 (By similarity). Interacts with TRAM2. Secreted, extracellular space, extracellular matrix (By similarity). Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite. The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity). Proline residues at the third position of the tripeptide repeating unit (G-X-P) are hydroxylated in some or all of the chains. Proline residues at the second position of the tripeptide repeating unit (G-P-X) are hydroxylated in some of the chains. O-linked glycan consists of a Glc-Gal disaccharide bound to the oxygen atom of a post-translationally added hydroxyl group. Defects in COL1A1 are the cause of Caffey disease (CAFFD) [MIM:114000]; also known as infantile cortical hyperostosis. Caffey disease is characterized by an infantile episode of massive subperiosteal new bone formation that typically involves the diaphyses of the long bones, mandible, and clavicles. The involved bones may also appear inflamed, with painful swelling and systemic fever often accompanying the illness. The bone changes usually begin before 5 months of age and resolve before 2 years of age. Defects in COL1A1 are a cause of Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]; also known as Ehlers-Danlos syndrome gravis. EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS1 is the severe form of classic Ehlers-Danlos syndrome. Defects in COL1A1 are the cause of Ehlers-Danlos syndrome type 7A (EDS7A) [MIM:130060]; also known as autosomal dominant Ehlers-Danlos syndrome type VII. EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS7A is marked by bilateral congenital hip dislocation, hyperlaxity of the joints, and recurrent partial dislocations. Defects in COL1A1 are a cause of osteogenesis imperfecta type 1 (OI1) [MIM:166200]. A dominantly inherited connective tissue disorder characterized by bone fragility and blue sclerae. Osteogenesis imperfecta type 1 is non-deforming with normal height or mild short stature, and no dentinogenesis imperfecta. Defects in COL1A1 are a cause of osteogenesis imperfecta type 2 (OI2) [MIM:166210]; also known as osteogenesis imperfecta congenita. A connective tissue disorder characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency. Defects in COL1A1 are a cause of osteogenesis imperfecta type 3 (OI3) [MIM:259420]. A connective tissue disorder characterized by progressively deforming bones, very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta. Defects in COL1A1 are a cause of osteogenesis imperfecta type 4 (OI4) [MIM:166220]; also known as osteogenesis imperfecta with normal sclerae. A connective tissue disorder characterized by moderately short stature, mild to moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta. Genetic variations in COL1A1 are a cause of susceptibility to osteoporosis (OSTEOP) [MIM:166710]; also known as involutional or senile osteoporosis or postmenopausal osteoporosis. Osteoporosis is characterized by reduced bone mass, disruption of bone microarchitecture without alteration in the composition of bone. Osteoporotic bones are more at risk of fracture. Note=A chromosomal aberration involving COL1A1 is found in dermatofibrosarcoma protuberans. Translocation t(17;22)(q22;q13) with PDGF. Belongs to the fibrillar collagen family. Contains 1 fibrillar collagen NC1 domain. Contains 1 VWFC domain. Sequence=BAD92834.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Name=Osteogenesis imperfecta variant database; Note=Collagen type I alpha 1 (COL1A1); URL="http://oi.gene.le.ac.uk/home.php?select_db=COL1A1"; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/COL1A1ID186.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL1A1"; Name=Wikipedia; Note=Type-I collagen entry; URL="http://en.wikipedia.org/wiki/Type-I_collagen"; skeletal system development ossification blood vessel development osteoblast differentiation intramembranous ossification endochondral ossification protease binding extracellular matrix structural constituent protein binding extracellular region collagen trimer collagen type I trimer extracellular space cytoplasm endoplasmic reticulum endoplasmic reticulum lumen Golgi apparatus response to nutrient blood coagulation visual perception sensory perception of sound response to mechanical stimulus positive regulation of epithelial to mesenchymal transition negative regulation of cell-substrate adhesion protein transport extracellular matrix structural constituent conferring tensile strength secretory granule platelet activation extracellular matrix organization collagen fibril organization positive regulation of cell migration extracellular matrix response to nutrient levels response to corticosteroid response to estradiol collagen biosynthetic process protein localization to nucleus tooth mineralization collagen-activated tyrosine kinase receptor signaling pathway wound healing response to drug response to hydrogen peroxide identical protein binding response to peptide hormone skin development skin morphogenesis cellular response to fibroblast growth factor stimulus tooth eruption positive regulation of transcription, DNA-templated metal ion binding platelet-derived growth factor binding response to steroid hormone skeletal system morphogenesis embryonic skeletal system development regulation of immune response leukocyte migration response to cAMP response to hyperoxia face morphogenesis bone trabecula formation cartilage development involved in endochondral bone morphogenesis cellular response to amino acid stimulus cellular response to mechanical stimulus cellular response to retinoic acid cellular response to vitamin E cellular response to tumor necrosis factor cellular response to epidermal growth factor stimulus cellular response to transforming growth factor beta stimulus positive regulation of canonical Wnt signaling pathway response to fluoride cellular response to fluoride uc002iqm.1 uc002iqm.2 uc002iqm.3 uc002iqm.4 uc002iqm.5 
ENST00000225969.9 MRPL27 ENST00000225969.9 Homo sapiens mitochondrial ribosomal protein L27 (MRPL27), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_016504) B2RE14 ENST00000225969.1 ENST00000225969.2 ENST00000225969.3 ENST00000225969.4 ENST00000225969.5 ENST00000225969.6 ENST00000225969.7 ENST00000225969.8 HSPC250 NM_016504 Q9P0M9 RM27_HUMAN uc002iqq.1 uc002iqq.2 uc002iqq.3 uc002iqq.4 uc002iqq.5 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AF151084.1, SRR1163658.334646.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2153932, SAMN03267769 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000225969.9/ ENSP00000225969.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Mitochondrion. Belongs to the ribosomal protein L27P family. RNA binding structural constituent of ribosome protein binding mitochondrion mitochondrial inner membrane mitochondrial large ribosomal subunit ribosome translation mitochondrial translational elongation mitochondrial translational termination uc002iqq.1 uc002iqq.2 uc002iqq.3 uc002iqq.4 uc002iqq.5 
ENST00000225972.8 LRRC59 ENST00000225972.8 Homo sapiens leucine rich repeat containing 59 (LRRC59), mRNA. (from RefSeq NM_018509) D3DTX8 ENST00000225972.1 ENST00000225972.2 ENST00000225972.3 ENST00000225972.4 ENST00000225972.5 ENST00000225972.6 ENST00000225972.7 LRC59_HUMAN NM_018509 PRO1855 Q96AG4 Q9P189 uc002iqt.1 uc002iqt.2 uc002iqt.3 uc002iqt.4 uc002iqt.5 Interacts with SGOL1. Microsome membrane; Single-pass type II membrane protein (By similarity). Endoplasmic reticulum membrane; Single-pass type II membrane protein (Potential). Contains 5 LRR (leucine-rich) repeats. Sequence=AAF69611.1; Type=Erroneous initiation; RNA binding nucleus nuclear envelope endoplasmic reticulum endoplasmic reticulum membrane membrane integral component of membrane organelle membrane mitochondrial nucleoid intracellular membrane-bounded organelle cadherin binding uc002iqt.1 uc002iqt.2 uc002iqt.3 uc002iqt.4 uc002iqt.5 
ENST00000225992.8 PPY ENST00000225992.8 Homo sapiens pancreatic polypeptide (PPY), transcript variant 1, mRNA. (from RefSeq NM_002722) ENST00000225992.1 ENST00000225992.2 ENST00000225992.3 ENST00000225992.4 ENST00000225992.5 ENST00000225992.6 ENST00000225992.7 NM_002722 P01298 PAHO_HUMAN PNP uc002iep.1 uc002iep.2 uc002iep.3 uc002iep.4 uc002iep.5 This gene encodes a member of the neuropeptide Y (NPY) family of peptides. The encoded 95 aa preproprotein is synthesized in the pancreatic islets of Langerhans and proteolytically processed to generate two peptide products. These products include the active pancreatic hormone of 36 aa and an icosapeptide of unknown function. This hormone acts as a regulator of pancreatic and gastrointestinal functions and may be important in the regulation of food intake. Plasma level of this hormone has been shown to be reduced in conditions associated with increased food intake and elevated in anorexia nervosa. In addition, infusion of this hormone in obese rodents has shown to decrease weight gain. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]. Pancreatic hormone is synthesized in pancreatic islets of Langerhans and acts as a regulator of pancreatic and gastrointestinal functions. The physiological role for the icosapeptide has not yet been elucidated. Secreted. Obinepitide is under clinical trial by 7TM Pharma to be used for the treatment of obesity. Obinepitide is derived from pancreatic hormone by having Gln-63. Belongs to the NPY family. G-protein coupled receptor binding hormone activity neuropeptide hormone activity extracellular region extracellular space cytoplasm G-protein coupled receptor signaling pathway neuropeptide signaling pathway protein secretion uc002iep.1 uc002iep.2 uc002iep.3 uc002iep.4 uc002iep.5 
ENST00000226004.8 DUSP3 ENST00000226004.8 Homo sapiens dual specificity phosphatase 3 (DUSP3), mRNA. (from RefSeq NM_004090) D3DX45 DUS3_HUMAN ENST00000226004.1 ENST00000226004.2 ENST00000226004.3 ENST00000226004.4 ENST00000226004.5 ENST00000226004.6 ENST00000226004.7 NM_004090 P51452 Q5U0J1 VHR uc002ied.1 uc002ied.2 uc002ied.3 uc002ied.4 uc002ied.5 uc002ied.6 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene maps in a region that contains the BRCA1 locus which confers susceptibility to breast and ovarian cancer. Although DUSP3 is expressed in both breast and ovarian tissues, mutation screening in breast cancer pedigrees and in sporadic tumors was negative, leading to the conclusion that this gene is not BRCA1. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660809.105724.1, SRR1803611.73793.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226004.8/ ENSP00000226004.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Shows activity both for tyrosine-protein phosphate and serine-protein phosphate, but displays a strong preference toward phosphotyrosines. Specifically dephosphorylates and inactivates ERK1 and ERK2. Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate. A phosphoprotein + H(2)O = a protein + phosphate. Interacts with VRK3, which seems to activate it's phosphatase activity (By similarity). Nucleus. Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. Contains 1 tyrosine-protein phosphatase domain. inactivation of MAPK activity immunological synapse phosphoprotein phosphatase activity protein tyrosine phosphatase activity nucleus nucleoplasm cytosol protein dephosphorylation cytoskeletal protein binding protein tyrosine/serine/threonine phosphatase activity dephosphorylation hydrolase activity phosphatase activity protein kinase binding negative regulation of cell migration receptor tyrosine kinase binding MAP kinase phosphatase activity peptidyl-tyrosine dephosphorylation negative regulation of epidermal growth factor receptor signaling pathway negative regulation of MAPK cascade positive regulation of mitotic cell cycle negative regulation of JNK cascade negative regulation of T cell receptor signaling pathway negative regulation of T cell activation negative regulation of chemotaxis regulation of focal adhesion assembly negative regulation of ERK1 and ERK2 cascade cellular response to epidermal growth factor stimulus peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity protein tyrosine kinase binding uc002ied.1 uc002ied.2 uc002ied.3 uc002ied.4 uc002ied.5 uc002ied.6 
ENST00000226021.5 CACNG1 ENST00000226021.5 Homo sapiens calcium voltage-gated channel auxiliary subunit gamma 1 (CACNG1), mRNA. (from RefSeq NM_000727) B2R9N3 CACNLG CCG1_HUMAN ENST00000226021.1 ENST00000226021.2 ENST00000226021.3 ENST00000226021.4 NM_000727 Q06432 Q14D59 uc002jfu.1 uc002jfu.2 uc002jfu.3 uc002jfu.4 uc002jfu.5 Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is part of skeletal muscle 1,4-dihydropyridine-sensitive calcium channels and is an integral membrane protein that plays a role in excitation-contraction coupling. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). [provided by RefSeq, Dec 2010]. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.187776.1, L07738.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2153427, SAMEA2158800 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226021.5/ ENSP00000226021.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## This protein is a subunit of the dihydropyridine (DHP) sensitive calcium channel. Plays a role in excitation-contraction coupling. The skeletal muscle DHP-sensitive Ca(2+) channel may function only as a multiple subunit complex. The L-type calcium channel is composed of five subunits: alpha-1, alpha-2/delta, beta and gamma. Membrane; Multi-pass membrane protein. Skeletal muscle. Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. voltage-gated ion channel activity voltage-gated calcium channel activity calcium channel regulator activity calcium channel activity protein binding plasma membrane integral component of plasma membrane voltage-gated calcium channel complex ion transport calcium ion transport membrane integral component of membrane T-tubule regulation of ion transmembrane transport sarcolemma cardiac conduction sarcoplasmic reticulum calcium ion transport calcium ion transmembrane transport regulation of calcium ion transmembrane transport via high voltage-gated calcium channel L-type voltage-gated calcium channel complex uc002jfu.1 uc002jfu.2 uc002jfu.3 uc002jfu.4 uc002jfu.5 
ENST00000226067.10 HLF ENST00000226067.10 Homo sapiens HLF transcription factor, PAR bZIP family member (HLF), transcript variant 1, mRNA. (from RefSeq NM_002126) ENST00000226067.1 ENST00000226067.2 ENST00000226067.3 ENST00000226067.4 ENST00000226067.5 ENST00000226067.6 ENST00000226067.7 ENST00000226067.8 ENST00000226067.9 HLF_HUMAN NM_002126 Q16534 uc002iug.1 uc002iug.2 uc002iug.3 This gene encodes a member of the proline and acidic-rich (PAR) protein family, a subset of the bZIP transcription factors. The encoded protein forms homodimers or heterodimers with other PAR family members and binds sequence-specific promoter elements to activate transcription. Chromosomal translocations fusing portions of this gene with the E2A gene cause a subset of childhood B-lineage acute lymphoid leukemias. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.43262.1, SRR1660809.156869.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226067.10/ ENSP00000226067.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Binds DNA specifically as homodimer or heterodimer with other PAR factors. Nucleus (Probable). Highly expressed in liver; lower levels in lung and kidney. Accumulates according to a robust circadian rhythm (By similarity). Note=A chromosomal aberration involving HLF is a cause of pre-B-cell acute lymphoblastic leukemia (B-ALL). Translocation t(17;19)(q22;p13.3) with TCF3. Belongs to the bZIP family. PAR subfamily. Contains 1 bZIP (basic-leucine zipper) domain. Sequence=AAA58445.1; Type=Erroneous initiation; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/HLFID47.html"; nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding double-stranded DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter multicellular organism development skeletal muscle cell differentiation sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter rhythmic process uc002iug.1 uc002iug.2 uc002iug.3 
ENST00000226091.3 EFNB3 ENST00000226091.3 Homo sapiens ephrin B3 (EFNB3), mRNA. (from RefSeq NM_001406) B2RBW2 D3DTQ6 EFNB3_HUMAN ENST00000226091.1 ENST00000226091.2 EPLG8 LERK8 NM_001406 O00680 Q15768 Q8TBH7 Q92875 uc002gis.1 uc002gis.2 uc002gis.3 uc002gis.4 uc002gis.5 EFNB3, a member of the ephrin gene family, is important in brain development as well as in its maintenance. Moreover, since levels of EFNB3 expression were particularly high in several forebrain subregions compared to other brain subregions, it may play a pivotal role in forebrain function. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH Receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC042944.2, U66406.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226091.3/ ENSP00000226091.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. May play a pivotal role in forebrain function. Binds to, and induce the collapse of, commissural axons/growth cones in vitro. May play a role in constraining the orientation of longitudinally projecting axons (By similarity). Interacts with GRIP1 and GRIP2. Binds to Nipah virus G protein. Membrane; Single-pass type I membrane protein. Highly expressed in brain; expressed in embryonic floor plate, roof plate and hindbrain segments. Belongs to the ephrin family. Contains 1 ephrin RBD (ephrin receptor-binding) domain. virus receptor activity transmembrane-ephrin receptor activity protein binding plasma membrane integral component of plasma membrane cell-cell signaling multicellular organism development nervous system development axon guidance adult walking behavior membrane integral component of membrane viral process axon choice point recognition cell differentiation T cell costimulation viral entry into host cell ephrin receptor binding ephrin receptor signaling pathway negative regulation of axonogenesis glutamatergic synapse integral component of presynaptic membrane integral component of postsynaptic density membrane trans-synaptic signaling by trans-synaptic complex, modulating synaptic transmission uc002gis.1 uc002gis.2 uc002gis.3 uc002gis.4 uc002gis.5 
ENST00000226105.11 RANGRF ENST00000226105.11 Homo sapiens RAN guanine nucleotide release factor (RANGRF), transcript variant 1, mRNA. (from RefSeq NM_016492) D3DTR6 ENST00000226105.1 ENST00000226105.10 ENST00000226105.2 ENST00000226105.3 ENST00000226105.4 ENST00000226105.5 ENST00000226105.6 ENST00000226105.7 ENST00000226105.8 ENST00000226105.9 HSPC165 HSPC236 MDS5 MOG1 MOG1_HUMAN NM_016492 Q68DI3 Q9BR68 Q9HD47 Q9HD48 Q9NRU9 Q9P001 Q9P0P2 RANGNRF uc002gkv.1 uc002gkv.2 uc002gkv.3 uc002gkv.4 uc002gkv.5 This gene encodes a protein that has been shown to function as a guanine nucleotide release factor in mouse and to regulate the expression and function of the Nav1.5 cardiac sodium channel in human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]. May regulate the intracellular trafficking of RAN. In cardiac cells seems to regulate the cell surface localization of SCN5A. Monomer (By similarity). Interacts with RAN, RAN-GTP and RAN-GDP. Forms a complex with RAN-GTP and RANBP1 (By similarity). Interacts with the cytoplasmic loop 2 of SCN5A. Nucleus. Cytoplasm. Note=Shuttles between the nucleus and cytoplasm. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=MOG1a; IsoId=Q9HD47-1; Sequence=Displayed; Name=2; Synonyms=MOG1b; IsoId=Q9HD47-2; Sequence=VSP_033060; Name=3; IsoId=Q9HD47-3; Sequence=VSP_033059, VSP_033061; Name=4; IsoId=Q9HD47-4; Sequence=VSP_033057, VSP_033058; Isoform 1 and isoform 2 are ubiquitously expressed. Belongs to the MOG1 family. Sequence=AAF29129.1; Type=Frameshift; Positions=62, 93; Sequence=AAF87316.1; Type=Frameshift; Positions=62; regulation of heart rate regulation of membrane depolarization guanyl-nucleotide exchange factor activity Ran guanyl-nucleotide exchange factor activity nucleus nucleoplasm cytoplasm rough endoplasmic reticulum cytosol plasma membrane caveola ER to Golgi vesicle-mediated transport Ran GTPase binding intercalated disc protein transport membrane sodium channel regulator activity protein exit from endoplasmic reticulum regulation of membrane potential ion channel binding perinuclear region of cytoplasm regulation of microtubule nucleation by Ran protein signal transduction regulation of bundle of His cell action potential regulation of cardiac muscle cell action potential involved in regulation of contraction regulation of membrane depolarization during cardiac muscle cell action potential regulation of sodium ion transmembrane transport positive regulation of protein localization to plasma membrane positive regulation of protein localization to cell surface regulation of sodium ion transmembrane transporter activity uc002gkv.1 uc002gkv.2 uc002gkv.3 uc002gkv.4 uc002gkv.5 
ENST00000226193.6 RCVRN ENST00000226193.6 Homo sapiens recoverin (RCVRN), mRNA. (from RefSeq NM_002903) ENST00000226193.1 ENST00000226193.2 ENST00000226193.3 ENST00000226193.4 ENST00000226193.5 NM_002903 P35243 RCV1 RECO_HUMAN uc002gme.1 uc002gme.2 uc002gme.3 This gene encodes a member of the recoverin family of neuronal calcium sensors. The encoded protein contains three calcium-binding EF-hand domains and may prolong the termination of the phototransduction cascade in the retina by blocking the phosphorylation of photo-activated rhodopsin. Recoverin may be the antigen responsible for cancer-associated retinopathy. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AL712005.1, S43855.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226193.6/ ENSP00000226193.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Seems to be implicated in the pathway from retinal rod guanylate cyclase to rhodopsin. May be involved in the inhibition of the phosphorylation of rhodopsin in a calcium-dependent manner. The calcium-bound recoverin prolongs the photoresponse. Retina and pineal gland. Binds two calcium ions; one with high affinity, the other with low affinity. Belongs to the recoverin family. Contains 4 EF-hand domains. calcium ion binding signal transduction visual perception phototransduction calcium sensitive guanylate cyclase activator activity dendrite positive regulation of guanylate cyclase activity metal ion binding response to stimulus regulation of calcium ion transport uc002gme.1 uc002gme.2 uc002gme.3 
ENST00000226207.6 MYH1 ENST00000226207.6 Homo sapiens myosin heavy chain 1 (MYH1), mRNA. (from RefSeq NM_005963) ENST00000226207.1 ENST00000226207.2 ENST00000226207.3 ENST00000226207.4 ENST00000226207.5 MYH1_HUMAN NM_005963 P12882 Q14CA4 Q9Y622 uc002gmo.1 uc002gmo.2 uc002gmo.3 uc002gmo.4 uc002gmo.5 Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. Myosin heavy chains are encoded by a multigene family. In mammals at least 10 different myosin heavy chain (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These isoforms show expression that is spatially and temporally regulated during development. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## CDS exon combination :: AF111785.1, EU794637.1 [ECO:0000331] RNAseq introns :: mixed/partial sample support SAMEA1968540, SAMEA1968968 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226207.6/ ENSP00000226207.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Muscle contraction. Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2). Cytoplasm, myofibril. Note=Thick filaments of the myofibrils. The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils. Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can later be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2). Contains 1 IQ domain. Contains 1 myosin head-like domain. Represents a conventional myosin. This protein should not be confused with the unconventional myosin-1 (MYO1). nucleotide binding motor activity actin binding protein binding calmodulin binding ATP binding cytoplasm muscle myosin complex muscle contraction intercalated disc myosin complex myofibril A band myosin filament cytoplasmic ribonucleoprotein granule actin filament binding uc002gmo.1 uc002gmo.2 uc002gmo.3 uc002gmo.4 uc002gmo.5 
ENST00000226218.9 VTN ENST00000226218.9 Homo sapiens vitronectin (VTN), mRNA. (from RefSeq NM_000638) B2R7G0 ENST00000226218.1 ENST00000226218.2 ENST00000226218.3 ENST00000226218.4 ENST00000226218.5 ENST00000226218.6 ENST00000226218.7 ENST00000226218.8 NM_000638 P01141 P04004 Q9BSH7 VTNC_HUMAN uc002hbc.1 uc002hbc.2 uc002hbc.3 uc002hbc.4 uc002hbc.5 The protein encoded by this gene is a member of the pexin family. It is found in serum and tissues and promotes cell adhesion and spreading, inhibits the membrane-damaging effect of the terminal cytolytic complement pathway, and binds to several serpin serine protease inhibitors. It is a secreted protein and exists in either a single chain form or a clipped, two chain form held together by a disulfide bond. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189655.110316.1, SRR5189664.122025.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145122, SAMEA2155590 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226218.9/ ENSP00000226218.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Vitronectin is a cell adhesion and spreading factor found in serum and tissues. Vitronectin interact with glycosaminoglycans and proteoglycans. Is recognized by certain members of the integrin family and serves as a cell-to-substrate adhesion molecule. Inhibitor of the membrane-damaging effect of the terminal cytolytic complement pathway. Somatomedin-B is a growth hormone-dependent serum factor with protease-inhibiting activity. Exists in two forms: a single chain 75 kDa form (V75) and a clipped form composed of two chains (65 kDa and 10 kDa) (V65+V10) which are held together by a disulfide bond. Interacts with SERPINE1/PAI1 and insulin. P05121:SERPINE1; NbExp=1; IntAct=EBI-1036653, EBI-953978; Secreted, extracellular space. Plasma. The SMB domain mediates interaction with SERPINE1/PAI1. The heparin-binding domain mediates interaction with insulin. Sulfated on 2 tyrosine residues. N- and O-glycosylated (By similarity). Phosphorylation on Thr-69 and Thr-76 favors cell adhesion and spreading. It has been suggested that the active SMB domain may be permitted considerable disulfide bond heterogeneity or variability, thus two alternate disulfide patterns based on 3D structures are described with 1 disulfide bond conserved in both. Phosphorylation sites are present in the extracellular medium. Contains 4 hemopexin-like domains. Contains 1 SMB (somatomedin-B) domain. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/vtn/"; scavenger receptor activity integrin binding extracellular matrix structural constituent protein binding collagen binding extracellular region basement membrane extracellular space cytoplasm endoplasmic reticulum Golgi lumen endocytosis immune response cell adhesion cell-matrix adhesion heparin binding cell proliferation positive regulation of cell-substrate adhesion negative regulation of endopeptidase activity positive regulation of smooth muscle cell migration cell migration negative regulation of blood coagulation extracellular matrix organization polysaccharide binding regulation of complement activation positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular matrix positive regulation of protein binding cell adhesion mediated by integrin endodermal cell differentiation identical protein binding intracellular membrane-bounded organelle rough endoplasmic reticulum lumen positive regulation of receptor-mediated endocytosis oligodendrocyte differentiation positive regulation of peptidyl-tyrosine phosphorylation extracellular matrix binding protein polymerization smooth muscle cell-matrix adhesion extracellular exosome alphav-beta3 integrin-vitronectin complex blood microparticle positive regulation of wound healing liver regeneration uc002hbc.1 uc002hbc.2 uc002hbc.3 uc002hbc.4 uc002hbc.5 
ENST00000226225.7 TNFAIP1 ENST00000226225.7 Homo sapiens TNF alpha induced protein 1 (TNFAIP1), mRNA. (from RefSeq NM_021137) BACD2_HUMAN BACURD2 EDP1 ENST00000226225.1 ENST00000226225.2 ENST00000226225.3 ENST00000226225.4 ENST00000226225.5 ENST00000226225.6 NM_021137 Q13829 Q5TZQ1 uc002hay.1 uc002hay.2 uc002hay.3 uc002hay.4 uc002hay.5 This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. Studies of a similar gene in mouse suggest that the expression of this gene is developmentally regulated in a tissue-specific manner. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC003694.2, SRR1803611.75799.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226225.7/ ENSP00000226225.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in regulation of cytoskeleton structure. The BCR(BACURD2) E3 ubiquitin ligase complex mediates the ubiquitination of RHOA, leading to its degradation by the proteasome, thereby regulating the actin cytoskeleton and cell migration. Its interaction with RHOB may regulate apoptosis. May enhance the PCNA-dependent DNA polymerase delta activity. Protein modification; protein ubiquitination. Component of the BCR(BACURD2) E3 ubiquitin ligase complex, at least composed of CUL3, TNFAIP1/BACURD2 and RBX1. Interacts with RHOA; with a preferrence for RhoA-GDP. Interacts with RHOB. Interacts with PCNA. Interacts with CSNK2B. P62745:RHOB; NbExp=5; IntAct=EBI-2505861, EBI-602647; Cytoplasm. Nucleus. Endosome. Note=Colocalizes with RHOB in endosomes. By TNF, IL1B/interleukin-1 beta and bacterial lipopolysaccharides (LPS). Phosphorylation at Ser-280 by CK2 facilitates the nucleus localization and increases interaction with PCNA. Belongs to the BACURD family. Contains 1 BTB (POZ) domain. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/tnfaip1/"; protein binding nucleus nucleolus cytoplasm endosome DNA replication apoptotic process immune response cell migration protein ubiquitination GTP-Rho binding protein domain specific binding Cul3-RING ubiquitin ligase complex negative regulation of Rho protein signal transduction identical protein binding stress fiber assembly proteasome-mediated ubiquitin-dependent protein catabolic process positive regulation of DNA replication protein homooligomerization ubiquitin-protein transferase activity uc002hay.1 uc002hay.2 uc002hay.3 uc002hay.4 uc002hay.5 
ENST00000226230.8 TMEM97 ENST00000226230.8 Homo sapiens transmembrane protein 97 (TMEM97), mRNA. (from RefSeq NM_014573) B4DS02 ENST00000226230.1 ENST00000226230.2 ENST00000226230.3 ENST00000226230.4 ENST00000226230.5 ENST00000226230.6 ENST00000226230.7 MAC30 NM_014573 Q07823 Q5BJF2 TMM97_HUMAN uc002hat.1 uc002hat.2 uc002hat.3 uc002hat.4 TMEM97 is a conserved integral membrane protein that plays a role in controlling cellular cholesterol levels (Bartz et al., 2009 [PubMed 19583955]).[supplied by OMIM, Aug 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.97499.1, SRR5189661.190685.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226230.8/ ENSP00000226230.6 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Plays a role as a regulator of cellular cholesterol homeostasis. Interacts with NPC1. Nucleus membrane. Rough endoplasmic reticulum. Cell membrane. Lysosome. Membrane; Multi-pass membrane protein (Potential). Note=Localized in sterol-depleted cells at cell membrane and in lysosomes. Widely expressed in normal tissues. Expressed in pancreatic, renal, breast, colon, ovarian surface epithelial (OSE) cells and meningioma cancers. Expressed in ovarian cancer; expression is reduced relative to OSE cells. Up-regulated in ovarian surface epithelial (OSE) cells with progesterone. Belongs to the TMEM97 family. Sequence=AAA16188.1; Type=Frameshift; Positions=5; regulation of cell growth protein binding nucleus lysosome endoplasmic reticulum rough endoplasmic reticulum cytosol plasma membrane membrane integral component of membrane rough endoplasmic reticulum membrane nuclear membrane cholesterol homeostasis uc002hat.1 uc002hat.2 uc002hat.3 uc002hat.4 
ENST00000226279.8 CD38 ENST00000226279.8 Homo sapiens CD38 molecule (CD38), transcript variant 2, non-coding RNA. (from RefSeq NR_132660) CD38_HUMAN ENST00000226279.1 ENST00000226279.2 ENST00000226279.3 ENST00000226279.4 ENST00000226279.5 ENST00000226279.6 ENST00000226279.7 NR_132660 O00121 O00122 P28907 Q96HY4 uc003gol.1 uc003gol.2 uc003gol.3 The protein encoded by this gene is a non-lineage-restricted, type II transmembrane glycoprotein that synthesizes and hydrolyzes cyclic adenosine 5'-diphosphate-ribose, an intracellular calcium ion mobilizing messenger. The release of soluble protein and the ability of membrane-bound protein to become internalized indicate both extracellular and intracellular functions for the protein. This protein has an N-terminal cytoplasmic tail, a single membrane-spanning domain, and a C-terminal extracellular region with four N-glycosylation sites. Crystal structure analysis demonstrates that the functional molecule is a dimer, with the central portion containing the catalytic site. It is used as a prognostic marker for patients with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]. Synthesizes cyclic ADP-ribose, a second messenger for glucose-induced insulin secretion. Also has cADPr hydrolase activity. Also moonlights as a receptor in cells of the immune system. NAD(+) + H(2)O = ADP-ribose + nicotinamide. ATP inhibits the hydrolyzing activity. Membrane; Single-pass type II membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P28907-1; Sequence=Displayed; Name=2; IsoId=P28907-2; Sequence=VSP_000707, VSP_000708; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Expressed at high levels in pancreas, liver, kidney, brain, testis, ovary, placenta, malignant lymphoma and neuroblastoma. Preferentially expressed at both early and late stages of the B and T-cell maturation. It is also detected on erythroid and myeloid progenitors in bone marrow, where the level of surface expression was shown to decrease during differentiation of blast-forming unit E to colony-forming unit E. Belongs to the ADP-ribosyl cyclase family. Name=Wikipedia; Note=CD38 entry; URL="http://en.wikipedia.org/wiki/CD38"; response to hypoxia NAD+ nucleosidase activity nucleus plasma membrane signal transduction positive regulation of cytosolic calcium ion concentration female pregnancy positive regulation of cell proliferation response to hormone cell surface negative regulation of neuron projection development artery smooth muscle contraction membrane integral component of membrane basolateral plasma membrane transferase activity hydrolase activity hydrolase activity, acting on glycosyl bonds phosphorus-oxygen lyase activity NAD metabolic process positive regulation of cell growth secretory granule membrane positive regulation of B cell proliferation positive regulation of insulin secretion response to estradiol response to retinoic acid response to progesterone response to hydroperoxide response to cytokine response to drug identical protein binding negative regulation of apoptotic process intracellular membrane-bounded organelle negative regulation of bone resorption negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of vasoconstriction NAD(P)+ nucleosidase activity B cell receptor signaling pathway long term synaptic depression NAD+ nucleotidase, cyclic ADP-ribose generating extracellular exosome response to interleukin-1 apoptotic signaling pathway uc003gol.1 uc003gol.2 uc003gol.3 
ENST00000226284.7 IBSP ENST00000226284.7 Homo sapiens integrin binding sialoprotein (IBSP), mRNA. (from RefSeq NM_004967) BNSP ENST00000226284.1 ENST00000226284.2 ENST00000226284.3 ENST00000226284.4 ENST00000226284.5 ENST00000226284.6 NM_004967 P21815 SIAL_HUMAN uc003hqx.1 uc003hqx.2 uc003hqx.3 uc003hqx.4 uc003hqx.5 uc003hqx.6 The protein encoded by this gene is a major structural protein of the bone matrix. It constitutes approximately 12% of the noncollagenous proteins in human bone and is synthesized by skeletal-associated cell types, including hypertrophic chondrocytes, osteoblasts, osteocytes, and osteoclasts. The only extraskeletal site of its synthesis is the trophoblast. This protein binds to calcium and hydroxyapatite via its acidic amino acid clusters, and mediates cell attachment through an RGD sequence that recognizes the vitronectin receptor. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.193979.1, SRR1660807.136311.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145743, SAMEA2153307 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226284.7/ ENSP00000226284.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds tightly to hydroxyapatite. Appears to form an integral part of the mineralized matrix. Probably important to cell-matrix interaction. Promotes Arg-Gly-Asp-dependent cell attachment. Secreted. N-glycosylated; glycans consist of sialylated and core- fucosylated bi-, tri- and tetraantennary chains. O-glycosylated at eight sites; mucin-type glycans contain Gal, GlcNAc, GalNAc and terminal NeuAc. Sulfated on either Tyr-313 or Tyr-314. It is possible that the segments of clustered carboxyl groups mediate the strong binding to hydroxyapatite. ossification osteoblast differentiation molecular_function integrin binding extracellular region extracellular space cell adhesion membrane extracellular matrix organization bone mineralization biomineral tissue development vesicle positive regulation of cell adhesion cellular response to growth factor stimulus uc003hqx.1 uc003hqx.2 uc003hqx.3 uc003hqx.4 uc003hqx.5 uc003hqx.6 
ENST00000226299.9 LAP3 ENST00000226299.9 Homo sapiens leucine aminopeptidase 3 (LAP3), mRNA. (from RefSeq NM_015907) AMPL_HUMAN B3KMQ3 ENST00000226299.1 ENST00000226299.2 ENST00000226299.3 ENST00000226299.4 ENST00000226299.5 ENST00000226299.6 ENST00000226299.7 ENST00000226299.8 LAPEP NM_015907 P28838 PEPS Q6IAM6 Q6P0L6 Q9UQE3 uc062vle.1 uc062vle.2 Presumably involved in the processing and regular turnover of intracellular proteins. Catalyzes the removal of unsubstituted N-terminal amino acids from various peptides. Release of an N-terminal amino acid, Xaa-|- Yaa-, in which Xaa is preferably Leu, but may be other amino acids including Pro although not Arg or Lys, and Yaa may be Pro. Amino acid amides and methyl esters are also readily hydrolyzed, but rates on arylamides are exceedingly low. Release of N-terminal proline from a peptide. Binds 2 zinc ions per subunit. One zinc ion is tightly bound and essential for enzyme activity, while the second metal coordination site can be occupied by zinc, magnesium or manganese to give enzymes of different activities (By similarity). Homohexamer. Cytoplasm. Event=Alternative initiation; Named isoforms=2; Name=1; IsoId=P28838-1; Sequence=Displayed; Name=2; IsoId=P28838-2; Sequence=VSP_022631; Note=Met-1 is removed; Belongs to the peptidase M17 family. aminopeptidase activity nucleus nucleoplasm cytoplasm trans-Golgi network cytosol focal adhesion proteolysis peptidase activity metalloexopeptidase activity hydrolase activity protein metabolic process manganese ion binding midbody metal ion binding extracellular exosome uc062vle.1 uc062vle.2 
ENST00000226317.10 CXCL6 ENST00000226317.10 Homo sapiens C-X-C motif chemokine ligand 6 (CXCL6), mRNA. (from RefSeq NM_002993) B2R4X3 CXCL6_HUMAN ENST00000226317.1 ENST00000226317.2 ENST00000226317.3 ENST00000226317.4 ENST00000226317.5 ENST00000226317.6 ENST00000226317.7 ENST00000226317.8 ENST00000226317.9 GCP2 NM_002993 P80162 Q4W5D4 SCYB6 uc003hhf.1 uc003hhf.2 uc003hhf.3 uc003hhf.4 uc003hhf.5 The protein encoded by this gene is a member CXC chemokine family. The encoded protein is a chemotactic for neutrophil granulocytes and has antibacterial action against gram-negative and gram-positive bacteria. This gene and other members of the CXC chemokine gene family form a gene cluster in a region of chromosome 4q. [provided by RefSeq, Jun 2020]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U81234.1, ERR279869.1807.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226317.10/ ENSP00000226317.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Chemotactic for neutrophil granulocytes. Secreted. Belongs to the intercrine alpha (chemokine CxC) family. Name=Wikipedia; Note=CXCL6 entry; URL="http://en.wikipedia.org/wiki/CXCL6"; leukocyte homeostasis cytokine activity protein binding extracellular region extracellular space chemotaxis defense response inflammatory response immune response signal transduction G-protein coupled receptor signaling pathway cell-cell signaling chemokine activity heparin binding neutrophil chemotaxis leukocyte chemotaxis response to lipopolysaccharide regulation of chemokine production neutrophil activation defense response to bacterium chemokine-mediated signaling pathway regulation of neutrophil mediated killing of gram-negative bacterium cellular response to lipopolysaccharide uc003hhf.1 uc003hhf.2 uc003hhf.3 uc003hhf.4 uc003hhf.5 
ENST00000226319.11 JADE1 ENST00000226319.11 Homo sapiens jade family PHD finger 1 (JADE1), transcript variant 1, mRNA. (from RefSeq NM_199320) D3DNY0 D3DNY1 ENST00000226319.1 ENST00000226319.10 ENST00000226319.2 ENST00000226319.3 ENST00000226319.4 ENST00000226319.5 ENST00000226319.6 ENST00000226319.7 ENST00000226319.8 ENST00000226319.9 JADE1_HUMAN KIAA1807 NM_199320 PHF17 Q4W5D5 Q6IE81 Q6ZSL7 Q8NC41 Q96JL8 Q96SQ1 Q9H692 uc003igk.1 uc003igk.2 uc003igk.3 uc003igk.4 uc003igk.5 Component of the HBO1 complex which has a histone H4- specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Transcriptional coactivator it may also promote acetylation of nucleosomal histone H4 by KAT5. Promotes apoptosis. May act as a renal tumor suppressor. Component of the HBO1 complex composed at least of ING4 or ING5, KAT7/HBO1, MEAF6, and one of PHF15, PHF16 and PHF17. Isoform 3 interacts with VHL and KAT5. Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=JADE1L; IsoId=Q6IE81-1; Sequence=Displayed; Name=2; IsoId=Q6IE81-2; Sequence=VSP_021045; Note=No experimental confirmation available; Name=3; Synonyms=JADE1S; IsoId=Q6IE81-3; Sequence=VSP_021046, VSP_021047; Highly expressed in kidney. Also present in pancreas, liver and heart (at protein level). Down-regulated in renal cancer cells. The 2 PHD-type zinc fingers are required for transcriptional activity. Belongs to the JADE family. Contains 2 PHD-type zinc fingers. Sequence=BAB15371.1; Type=Erroneous initiation; Sequence=BAC11335.1; Type=Erroneous initiation; histone acetyltransferase complex transcription coactivator activity protein binding nucleus nucleoplasm cytoplasm cytosol cytoskeleton plasma membrane apoptotic process nuclear speck negative regulation of cell growth ciliary basal body cell projection histone H3 acetylation histone H4-K5 acetylation histone H4-K8 acetylation histone H4-K12 acetylation metal ion binding negative regulation of canonical Wnt signaling pathway positive regulation of nucleic acid-templated transcription negative regulation of G1/S transition of mitotic cell cycle histone H4-K16 acetylation uc003igk.1 uc003igk.2 uc003igk.3 uc003igk.4 uc003igk.5 
ENST00000226355.5 AFM ENST00000226355.5 Homo sapiens afamin (AFM), mRNA. (from RefSeq NM_001133) A8K3E1 AFAM_HUMAN ALB2 ALBA ENST00000226355.1 ENST00000226355.2 ENST00000226355.3 ENST00000226355.4 NM_001133 P43652 Q32MR3 Q4W5C5 uc003hhb.1 uc003hhb.2 uc003hhb.3 uc003hhb.4 uc003hhb.5 This gene is a member of the albumin gene family, which is comprised of four genes that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related serum transport proteins that are known to be evolutionarily related. The protein encoded by this gene is regulated developmentally, expressed in the liver and secreted into the bloodstream. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK290556.1, BC109020.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2145122 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226355.5/ ENSP00000226355.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Vitamin E binding protein. May transport vitamin E in body fluids under conditions where the lipoprotein system is not sufficient. May be involved in the regulation and transport of vitamin E at the blood-brain barrier (By similarity). Secreted. High level detected in plasma but also in extravascular fluids such as follicular and cerebrospinal fluids (at protein level). N-glycosylated; more than 90% of the glycans are sialylated. Belongs to the ALB/AFP/VDB family. Contains 3 albumin domains. fatty acid binding protein binding extracellular region extracellular space cytoplasm zinc ion binding vitamin E binding protein transport protein stabilization vitamin transport extracellular exosome protein transport within extracellular region blood microparticle uc003hhb.1 uc003hhb.2 uc003hhb.3 uc003hhb.4 uc003hhb.5 
ENST00000226382.4 PHOX2B ENST00000226382.4 Homo sapiens paired like homeobox 2B (PHOX2B), mRNA. (from RefSeq NM_003924) ENST00000226382.1 ENST00000226382.2 ENST00000226382.3 NM_003924 PHX2B_HUMAN PMX2B Q6PJD9 Q99453 uc003gwf.1 uc003gwf.2 uc003gwf.3 uc003gwf.4 uc003gwf.5 The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. Expansion of a 20 amino acid polyalanine tract in this protein by 5-13 aa has been associated with congenital central hypoventilation syndrome. [provided by RefSeq, Jul 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments and orthologous data. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: D82344.1, BC017199.2 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226382.4/ ENSP00000226382.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum- response element. Interacts with TRIM11 (By similarity). Nucleus (By similarity). Expressed in neuroblastoma, brain and adrenal gland. Defects in PHOX2B are a cause of congenital central hypoventilation syndrome (CCHS) [MIM:209880]; also known as congenital failure of autonomic control or Ondine curse. Most mutations consist of 5-10 alanine expansions in the poly-Ala region from amino acids 241-260. CCHS is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. CCHS is frequently complicated with neurocristopathies such as Hirschsprung disease that occurs in about 16% of CCHS cases. Defects in PHOX2B are the cause of susceptibility to neuroblastoma type 2 (NBLST2) [MIM:613013]. A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system. Belongs to the paired homeobox family. Contains 1 homeobox DNA-binding domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PHOX2B"; nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding neuron migration regulation of respiratory gaseous exchange by neurological system process noradrenergic neuron differentiation noradrenergic neuron development brainstem development DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated multicellular organism development nervous system development negative regulation of cell proliferation glial cell differentiation regulation of gene expression positive regulation of G2/M transition of mitotic cell cycle cell differentiation in hindbrain medullary reticular formation development hindbrain tangential cell migration neuron differentiation skeletal muscle cell differentiation sequence-specific DNA binding negative regulation of neuron differentiation positive regulation of neuron differentiation positive regulation of transcription from RNA polymerase II promoter cell development autonomic nervous system development enteric nervous system development sympathetic nervous system development parasympathetic nervous system development inner ear development efferent axon development in a lateral line nerve respiratory system development retrotrapezoid nucleus neuron differentiation sympathetic ganglion development negative regulation of cell cycle arrest dopaminergic neuron differentiation cellular response to BMP stimulus neural crest cell migration involved in autonomic nervous system development uc003gwf.1 uc003gwf.2 uc003gwf.3 uc003gwf.4 uc003gwf.5 
ENST00000226413.5 GNRHR ENST00000226413.5 Homo sapiens gonadotropin releasing hormone receptor (GNRHR), transcript variant 1, mRNA. (from RefSeq NM_000406) ENST00000226413.1 ENST00000226413.2 ENST00000226413.3 ENST00000226413.4 GNRHR_HUMAN GRHR NM_000406 O75793 P30968 Q14D13 Q92644 uc003hdn.1 uc003hdn.2 uc003hdn.3 uc003hdn.4 uc003hdn.5 This gene encodes the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes, breast, ovary, and prostate. Following binding of gonadotropin-releasing hormone, the receptor associates with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Activation of the receptor ultimately causes the release of gonadotropic luteinizing hormone (LH) and follicle stimulating hormone (FSH). Defects in this gene are a cause of hypogonadotropic hypogonadism (HH). Alternative splicing results in multiple transcript variants encoding different isoforms. More than 18 transcription initiation sites in the 5' region and multiple polyA signals in the 3' region have been identified for this gene. [provided by RefSeq, Jul 2008]. Receptor for gonadotropin releasing hormone (GnRH) that mediates the action of GnRH to stimulate the secretion of the gonadotropic hormones luteinizing hormone (LH) and follicle- stimulating hormone (FSH). This receptor mediates its action by association with G-proteins that activate a phosphatidylinositol- calcium second messenger system. Isoform 2 may act as an inhibitor of GnRH-R signaling. Cell membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P30968-1; Sequence=Displayed; Name=2; Synonyms=Truncated; IsoId=P30968-2; Sequence=VSP_001914; Pituitary, ovary, testis, breast and prostate but not in liver and spleen. Defects in GNRHR are a cause of idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]. IHH is defined as a deficiency of the pituitary secretion of follicle-stimulating hormone and luteinizing hormone, which results in the impairment of pubertal maturation and of reproductive function. Defects in GNRHR are a cause of fertile eunuch syndrome (FEUNS) [MIM:228300]. Fertile eunuch syndrome is a mild phenotypic form of HH going with the presence of normal testicular size and some degree of spermatogenesis. Belongs to the G-protein coupled receptor 1 family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GNRHR"; G-protein coupled receptor activity gonadotropin-releasing hormone receptor activity plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway multicellular organism development membrane integral component of membrane protein-hormone receptor activity cellular response to hormone stimulus cellular response to gonadotropin-releasing hormone uc003hdn.1 uc003hdn.2 uc003hdn.3 uc003hdn.4 uc003hdn.5 
ENST00000226432.9 CWH43 ENST00000226432.9 Homo sapiens cell wall biogenesis 43 C-terminal homolog (CWH43), transcript variant 1, mRNA. (from RefSeq NM_025087) B2RPD7 ENST00000226432.1 ENST00000226432.2 ENST00000226432.3 ENST00000226432.4 ENST00000226432.5 ENST00000226432.6 ENST00000226432.7 ENST00000226432.8 NM_025087 PG2IP_HUMAN PGAP2IP Q9H720 uc003gyv.1 uc003gyv.2 uc003gyv.3 uc003gyv.4 uc003gyv.5 Involved in lipid remodeling during GPI-anchor maturation (By similarity). Interacts with PGAP2/FRAG1 (By similarity). Membrane; Multi-pass membrane protein (Potential). Belongs to the PGAP2IP family. endoplasmic reticulum GPI anchor biosynthetic process membrane integral component of membrane uc003gyv.1 uc003gyv.2 uc003gyv.3 uc003gyv.4 uc003gyv.5 
ENST00000226444.4 SULT1E1 ENST00000226444.4 Homo sapiens sulfotransferase family 1E member 1 (SULT1E1), mRNA. (from RefSeq NM_005420) ENST00000226444.1 ENST00000226444.2 ENST00000226444.3 NM_005420 Q53X91 Q53X91_HUMAN hCG_38316 uc003heo.1 uc003heo.2 uc003heo.3 uc003heo.4 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that transfers a sulfo moiety to and from estrone, which may control levels of estrogen receptors. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC027956.1, S77383.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03267769 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226444.4/ ENSP00000226444.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## cytosol sulfotransferase activity transferase activity nuclear membrane uc003heo.1 uc003heo.2 uc003heo.3 uc003heo.4 
ENST00000226460.5 SMR3A ENST00000226460.5 Homo sapiens submaxillary gland androgen regulated protein 3A (SMR3A), mRNA. (from RefSeq NM_012390) ENST00000226460.1 ENST00000226460.2 ENST00000226460.3 ENST00000226460.4 NM_012390 PBI PROL5 Q99954 SMR3A_HUMAN uc003hfg.1 uc003hfg.2 uc003hfg.3 May play a role in protection or detoxification (By similarity). Secreted (Potential). Belongs to the PROL1/PROL3 family. endopeptidase inhibitor activity extracellular region negative regulation of endopeptidase activity regulation of sensory perception of pain uc003hfg.1 uc003hfg.2 uc003hfg.3 
ENST00000226524.4 PF4V1 ENST00000226524.4 Homo sapiens platelet factor 4 variant 1 (PF4V1), mRNA. (from RefSeq NM_002620) A1L4S0 CXCL4V1 ENST00000226524.1 ENST00000226524.2 ENST00000226524.3 NM_002620 P10720 PF4V_HUMAN SCYB4V1 uc003hhg.1 uc003hhg.2 uc003hhg.3 The protein encoded by this gene is a chemokine that is highly similar to platelet factor 4. The encoded protein displays a strong antiangiogenic function and is regulated by chemokine (C-X-C motif) receptor 3. This protein also impairs tumor growth and can protect against blood-retinal barrier breakdown in diabetes patients. [provided by RefSeq, Nov 2015]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189655.25447.1, ERR279829.555.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2144333, SAMEA2144335 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226524.4/ ENSP00000226524.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Inhibitor of angiogenesis. Inhibitor of endothelial cell chemotaxis (in vitro). Secreted. The N-terminal processed forms of platelet factor 4 variant seems to be produced by proteolytic cleavage. The most abundant form is Platelet factor 4 variant(5-74). Mass=8250.9; Method=Electrospray; Range=31-104; Note=Platelet factor 4 variant; Source=PubMed:15459074; Mass=7877.7; Method=Electrospray; Range=34-104; Note=Platelet factor 4 variant(4-74); Source=PubMed:15459074; Mass=7805.8; Method=Electrospray; Range=35-104; Note=Platelet factor 4 variant(5-74); Source=PubMed:15459074; Mass=7678.6; Method=Electrospray; Range=36-104; Note=Platelet factor 4 variant(6-74); Source=PubMed:15459074; Belongs to the intercrine alpha (chemokine CxC) family. cytokine activity protein binding extracellular region extracellular space chemotaxis defense response inflammatory response immune response chemokine activity heparin binding platelet activation neutrophil chemotaxis leukocyte chemotaxis chemokine-mediated signaling pathway cellular response to lipopolysaccharide uc003hhg.1 uc003hhg.2 uc003hhg.3 
ENST00000226574.9 NFKB1 ENST00000226574.9 Homo sapiens nuclear factor kappa B subunit 1 (NFKB1), transcript variant 1, mRNA. (from RefSeq NM_003998) A8K5Y5 B3KVE8 ENST00000226574.1 ENST00000226574.2 ENST00000226574.3 ENST00000226574.4 ENST00000226574.5 ENST00000226574.6 ENST00000226574.7 ENST00000226574.8 NFKB1_HUMAN NM_003998 P19838 Q68D84 Q86V43 Q8N4X7 Q9NZC0 uc011cep.1 uc011cep.2 uc011cep.3 This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF-kappa-B (NFKB) protein complex. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. Alternative splicing results in multiple transcript variants encoding different isoforms, at least one of which is proteolytically processed. [provided by RefSeq, Feb 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC051765.1, M55643.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226574.9/ ENSP00000226574.4 RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52 and the heterodimeric p65-p50 complex appears to be most abundant one. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. NF-kappa-B heterodimeric p65-p50 and RelB-p50 complexes are transcriptional activators. The NF-kappa-B p50-p50 homodimer is a transcriptional repressor, but can act as a transcriptional activator when associated with BCL3. NFKB1 appears to have dual functions such as cytoplasmic retention of attached NF-kappa-B proteins by p105 and generation of p50 by a cotranslational processing. The proteasome-mediated process ensures the production of both p50 and p105 and preserves their independent function, although processing of NFKB1/p105 also appears to occur post-translationally. p50 binds to the kappa-B consensus sequence 5'-GGRNNYYCC-3', located in the enhancer region of genes involved in immune response and acute phase reactions. In a complex with MAP3K8, NFKB1/p105 represses MAP3K8-induced MAPK signaling; active MAP3K8 is released by proteasome-dependent degradation of NFKB1/p105. Component of the NF-kappa-B p65-p50 complex. Component of the NF-kappa-B p65-p50 complex. Homodimer; component of the NF- kappa-B p50-p50 complex. Component of the NF-kappa-B p105-p50 complex. Component of the NF-kappa-B p50-c-Rel complex. Component of a complex consisting of the NF-kappa-B p50-p50 homodimer and BCL3. Also interacts with MAP3K8. NF-kappa-B p50 subunit interacts with NCOA3 coactivator, which may coactivate NF-kappa-B dependent expression via its histone acetyltransferase activity. Interacts with DSIPI; this interaction prevents nuclear translocation and DNA-binding. Interacts with SPAG9 and UNC5CL. NFKB1/p105 interacts with CFLAR; the interaction inhibits p105 processing into p50. NFKB1/p105 forms a ternary complex with MAP3K8 and TNIP2. Interacts with GSK3B; the interaction prevents processing of p105 to p50. NFKB1/p50 interacts with NFKBIE. NFKB1/p50 interacts with NFKBIZ. Nuclear factor NF-kappa-B p50 subunit interacts with NFKBID (By similarity). Directly interacts with MEN1. Interacts with HIF1AN. Q92887:ABCC2; NbExp=3; IntAct=EBI-300010, EBI-3916193; P03372:ESR1; NbExp=3; IntAct=EBI-697771, EBI-78473; Q13547:HDAC1; NbExp=4; IntAct=EBI-300010, EBI-301834; P25963:NFKBIA; NbExp=2; IntAct=EBI-300010, EBI-307386; Q14690:PDCD11; NbExp=2; IntAct=EBI-300010, EBI-300028; Q8IZL8:PELP1; NbExp=2; IntAct=EBI-300010, EBI-716449; Q8IV08:PLD3; NbExp=2; IntAct=EBI-300010, EBI-2689908; Q04206:RELA; NbExp=9; IntAct=EBI-300010, EBI-73886; P23396:RPS3; NbExp=2; IntAct=EBI-300010, EBI-351193; Q8NFZ5:TNIP2; NbExp=8; IntAct=EBI-1452239, EBI-359372; Nucleus. Cytoplasm. Note=Nuclear, but also found in the cytoplasm in an inactive form complexed to an inhibitor (I-kappa-B). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P19838-1; Sequence=Displayed; Name=2; IsoId=P19838-2; Sequence=VSP_021025; Name=3; IsoId=P19838-3; Sequence=VSP_042869, VSP_042870; Note=No experimental confirmation available; By phorbol ester and TNF. The C-terminus of p105 might be involved in cytoplasmic retention, inhibition of DNA-binding, and transcription activation. Glycine-rich region (GRR) appears to be a critical element in the generation of p50. While translation occurs, the particular unfolded structure after the GRR repeat promotes the generation of p50 making it an acceptable substrate for the proteasome. This process is known as cotranslational processing. The processed form is active and the unprocessed form acts as an inhibitor (I kappa B-like), being able to form cytosolic complexes with NF-kappa B, trapping it in the cytoplasm. Complete folding of the region downstream of the GRR repeat precludes processing. Phosphorylation at 'Ser-903' and 'Ser-907' primes p105 for proteolytic processing in response to TNF-alpha stimulation. Phosphorylation at 'Ser-927' and 'Ser-932' are required for BTRC/BTRCP-mediated proteolysis. Polyubiquitination seems to allow p105 processing. S-nitrosylation of Cys-61 affects DNA binding. The covalent modification of cysteine by 15-deoxy-Delta12,14- prostaglandin-J2 is autocatalytic and reversible. It may occur as an alternative to other cysteine modifications, such as S- nitrosylation and S-palmitoylation. Contains 7 ANK repeats. Contains 1 death domain. Contains 1 RHD (Rel-like) domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/NFKB1ID323.html"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/nfkb1/"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin transcription regulatory region sequence-specific DNA binding RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II transcription coactivator binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding negative regulation of cytokine production stimulatory C-type lectin receptor signaling pathway DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding protein binding extracellular region nucleus nucleoplasm cytoplasm mitochondrion cytosol regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter apoptotic process inflammatory response signal transduction I-kappaB kinase/NF-kappaB signaling transcription factor binding negative regulation of gene expression positive regulation of macrophage derived foam cell differentiation positive regulation of lipid storage negative regulation of calcidiol 1-monooxygenase activity negative regulation of vitamin D biosynthetic process enzyme binding membrane protein intracellular domain proteolysis negative regulation of cellular protein metabolic process negative regulation of cholesterol transport positive regulation of type I interferon production I-kappaB/NF-kappaB complex response to cytokine secretory granule lumen specific granule lumen response to muscle stretch NIK/NF-kappaB signaling Fc-epsilon receptor signaling pathway identical protein binding protein homodimerization activity actinin binding negative regulation of apoptotic process neutrophil degranulation sequence-specific DNA binding transcription regulatory region DNA binding negative regulation of interleukin-12 biosynthetic process negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity negative regulation of inflammatory response T cell receptor signaling pathway positive regulation of NF-kappaB transcription factor activity stress-activated MAPK cascade interleukin-1-mediated signaling pathway cellular response to lipopolysaccharide cellular response to mechanical stimulus cellular response to nicotine cellular response to interleukin-1 cellular response to interleukin-6 cellular response to tumor necrosis factor cellular response to dsRNA positive regulation of canonical Wnt signaling pathway positive regulation of hyaluronan biosynthetic process cellular response to angiotensin positive regulation of miRNA metabolic process uc011cep.1 uc011cep.2 uc011cep.3 
ENST00000226725.11 KLHL2 ENST00000226725.11 Homo sapiens kelch like family member 2 (KLHL2), transcript variant 1, mRNA. (from RefSeq NM_007246) A6NCM7 B4DFH7 ENST00000226725.1 ENST00000226725.10 ENST00000226725.2 ENST00000226725.3 ENST00000226725.4 ENST00000226725.5 ENST00000226725.6 ENST00000226725.7 ENST00000226725.8 ENST00000226725.9 KLHL2_HUMAN NM_007246 O95198 Q8N484 Q8TBH5 uc003irb.1 uc003irb.2 uc003irb.3 uc003irb.4 uc003irb.5 May play a role in organizing the actin cytoskeleton of the brain cells. Binds actin. Interacts with KLHL12. Cytoplasm, cytoskeleton. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O95198-1; Sequence=Displayed; Name=2; IsoId=O95198-2; Sequence=VSP_042837; Note=No experimental confirmation available; Predominantly expressed in brain. Contains 1 BTB (POZ) domain. Contains 6 Kelch repeats. ruffle actin binding protein binding cytoplasm cytosol cytoskeleton actin cytoskeleton protein ubiquitination lamellipodium Cul3-RING ubiquitin ligase complex identical protein binding cell projection post-translational protein modification uc003irb.1 uc003irb.2 uc003irb.3 uc003irb.4 uc003irb.5 
ENST00000226730.5 IL2 ENST00000226730.5 Homo sapiens interleukin 2 (IL2), mRNA. (from RefSeq NM_000586) ENST00000226730.1 ENST00000226730.2 ENST00000226730.3 ENST00000226730.4 NM_000586 Q0GK43 Q0GK43_HUMAN hCG_38828 uc003ier.1 uc003ier.2 uc003ier.3 uc003ier.4 uc003ier.5 The protein encoded by this gene is a secreted cytokine that is important for the proliferation of T and B lymphocytes. The receptor of this cytokine is a heterotrimeric protein complex whose gamma chain is also shared by interleukin 4 (IL4) and interleukin 7 (IL7). The expression of this gene in mature thymocytes is monoallelic, which represents an unusual regulatory mode for controlling the precise expression of a single gene. The targeted disruption of a similar gene in mice leads to ulcerative colitis-like disease, which suggests an essential role of this gene in the immune response to antigenic stimuli. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: S82692.1, BC070338.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226730.5/ ENSP00000226730.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## negative regulation of protein phosphorylation positive regulation of protein phosphorylation adaptive immune response immune system process cytokine activity interleukin-2 receptor binding extracellular region extracellular space cell immune response G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration protein kinase C-activating G-protein coupled receptor signaling pathway growth factor activity carbohydrate binding kappa-type opioid receptor binding positive regulation of interferon-gamma production positive regulation of T cell proliferation positive regulation of activated T cell proliferation positive regulation of tyrosine phosphorylation of STAT protein glycosphingolipid binding response to ethanol positive regulation of T cell differentiation positive regulation of regulatory T cell differentiation negative regulation of heart contraction positive regulation of transcription from RNA polymerase II promoter regulation of T cell homeostatic proliferation positive regulation of isotype switching to IgG isotypes negative regulation of lymphocyte proliferation negative regulation of inflammatory response positive regulation of immunoglobulin secretion positive regulation of dendritic spine development extrinsic apoptotic signaling pathway in absence of ligand negative regulation of T-helper 17 cell differentiation uc003ier.1 uc003ier.2 uc003ier.3 uc003ier.4 uc003ier.5 
ENST00000226760.5 WFS1 ENST00000226760.5 Homo sapiens wolframin ER transmembrane glycoprotein (WFS1), transcript variant 1, mRNA. (from RefSeq NM_006005) B2R797 D3DVT1 ENST00000226760.1 ENST00000226760.2 ENST00000226760.3 ENST00000226760.4 NM_006005 O76024 Q8N6I3 Q9UNW6 WFS1_HUMAN uc003gix.1 uc003gix.2 uc003gix.3 This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]. Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store. Endoplasmic reticulum membrane; Multi-pass membrane protein. Highly expressed in heart followed by brain, placenta, lung and pancreas. Weakly expressed in liver, kidney and skeletal muscle. Also expressed in islet and beta-cell insulinoma cell line. Arg-456-His, Arg-611-His and Ile-720-Val polymorphisms are in tight linkage disequilibrium with one another and associated with type 1 diabetes in Japanese. Defects in WFS1 are the cause of Wolfram syndrome type 1 (WFS1) [MIM:222300]. A rare autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, optic atrophy, deafness and various neurological symptoms. Defects in WFS1 are the cause of deafness autosomal dominant type 6 (DFNA6) [MIM:600965]; also called non-syndromic sensorineural deafness autosomal dominant type 14 (DFNA14) or non- syndromic sensorineural deafness autosomal dominant type 38 (DFNA38). DFNA6 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA6 is a low- frequency hearing loss in which frequencies of 2000 Hz and below are predominantly affected. Many patients have tinnitus, but there are otherwise no associated features such as vertigo. Because high-frequency hearing is generally preserved, patients retain excellent understanding of speech, although presbycusis or noise exposure may cause high-frequency loss later in life. DFNA6 worsens over time without progressing to profound deafness. Defects in WFS1 are the cause of Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296]. A disease characterized by the clinical triad of congenital progressive hearing impairment, diabetes mellitus, and optic atrophy. The hearing impairment, which is usually diagnosed in the first decade of life, is relatively constant and alters mainly low- and middle-frequency ranges. Name=WFS1 gene mutation and polymorphism database; URL="http://www.khri.med.umich.edu/research/lesperance_lab/low_freq.php"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/WFS1"; negative regulation of transcription from RNA polymerase II promoter kidney development renal water homeostasis protein binding calmodulin binding endoplasmic reticulum endoplasmic reticulum lumen endoplasmic reticulum membrane ER overload response visual perception sensory perception of sound membrane integral component of membrane protein maturation by protein folding integral component of endoplasmic reticulum membrane integral component of synaptic vesicle membrane dendrite ER-associated ubiquitin-dependent protein catabolic process endoplasmic reticulum unfolded protein response pancreas development positive regulation of protein ubiquitination ubiquitin protein ligase binding endoplasmic reticulum calcium ion homeostasis activating transcription factor binding response to endoplasmic reticulum stress IRE1-mediated unfolded protein response olfactory behavior glucose homeostasis negative regulation of programmed cell death negative regulation of sequence-specific DNA binding transcription factor activity negative regulation of neuron apoptotic process post-translational protein modification cellular protein metabolic process positive regulation of growth calcium-dependent protein binding protein stabilization neurological system process ATPase binding positive regulation of protein metabolic process positive regulation of calcium ion transport calcium ion homeostasis proteasome binding negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway negative regulation of ATF6-mediated unfolded protein response negative regulation of type B pancreatic cell apoptotic process uc003gix.1 uc003gix.2 uc003gix.3 
ENST00000226798.9 FRG1 ENST00000226798.9 Homo sapiens FSHD region gene 1 (FRG1), mRNA. (from RefSeq NM_004477) A8K775 ENST00000226798.1 ENST00000226798.2 ENST00000226798.3 ENST00000226798.4 ENST00000226798.5 ENST00000226798.6 ENST00000226798.7 ENST00000226798.8 FRG1_HUMAN NM_004477 Q14331 uc003izs.1 uc003izs.2 uc003izs.3 uc003izs.4 uc003izs.5 This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC053997.1, AK291890.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226798.9/ ENSP00000226798.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## May have a role in processing of pre-rRNA or in the assembly of rRNA into ribosomal subunits. May be involved in pre- mRNA splicing. Identified in the spliceosome C complex. Nucleus, Cajal body. Nucleus speckle. Nucleus, nucleolus. Note=First expressed in Cajal bodies and nuclear speckles. As speckle expression diminishes, expression is seen in dense structures (dense fibrillar component and the granular component) of the nucleolus. Expressed in adult muscle, lymphocytes, fetal brain, muscle, and placenta. Belongs to the FRG1 family. mRNA splicing, via spliceosome RNA binding actin binding protein binding nucleus spliceosomal complex nucleolus cytoplasm rRNA processing mRNA processing muscle organ development RNA splicing Cajal body Z disc ribosome biogenesis actin filament binding striated muscle dense body catalytic step 2 spliceosome uc003izs.1 uc003izs.2 uc003izs.3 uc003izs.4 uc003izs.5 
ENST00000226951.11 CLNK ENST00000226951.11 Homo sapiens cytokine dependent hematopoietic cell linker (CLNK), mRNA. (from RefSeq NM_052964) CLNK_HUMAN ENST00000226951.1 ENST00000226951.10 ENST00000226951.2 ENST00000226951.3 ENST00000226951.4 ENST00000226951.5 ENST00000226951.6 ENST00000226951.7 ENST00000226951.8 ENST00000226951.9 MIST NM_052964 Q05C27 Q7Z7G1 Q9P2U9 uc003gmo.1 uc003gmo.2 uc003gmo.3 uc003gmo.4 uc003gmo.5 uc003gmo.6 MIST is a member of the SLP76 family of adaptors (see LCP2, MIM 601603; BLNK, MIM 604515). MIST plays a role in the regulation of immunoreceptor signaling, including PLC-gamma (PLCG1; MIM 172420)-mediated B cell antigen receptor (BCR) signaling and FC-epsilon R1 (see FCER1A, MIM 147140)-mediated mast cell degranulation (Cao et al., 1999 [PubMed 10562326]; Goitsuka et al., 2000, 2001 [PubMed 10744659] [PubMed 11463797]).[supplied by OMIM, Mar 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: AK093001.1, AB110420.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA2152719 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226951.11/ ENSP00000226951.6 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Plays a role in the regulation of immunoreceptor signaling, including PLC-gamma-mediated B-cell antigen receptor (BCR) signaling and FC-epsilon R1-mediated mast cell degranulation. Involved in phosphorylation of LAT (By similarity). When phosphorylated, interacts with PLCG1, PLCG2, GRB2, VAV and LAT (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q7Z7G1-1; Sequence=Displayed; Name=2; IsoId=Q7Z7G1-2; Sequence=VSP_030330, VSP_030332, VSP_030333; Name=3; IsoId=Q7Z7G1-3; Sequence=VSP_030331; The N-terminal proline-rich region interacts with the SH3 domain of PLCG1 (By similarity). The SH2 domain is important for restoration of BCR-induced calcium response and JNK2 activation in BLNK-deficient DT40 cells expressing LAT (By similarity). Tyrosine-phosphorylated upon BCR cross-linking. Tyrosine phosphorylation at both Tyr-69 and Tyr-96 are required for BCR- induced calcium response and are essential to restore PLCG2- mediated signaling in BLNK-deficient DT40 cells, but this phosphorylation is dispensable in cells expressing LAT. Interacts with the SH2 domain of PLCG1 via phosphorylated Tyr-96 (By similarity). Contains 1 SH2 domain. positive regulation of natural killer cell cytokine production SH3/SH2 adaptor activity protein binding cytoplasm immune response transmembrane receptor protein tyrosine kinase signaling pathway positive regulation of signal transduction regulation of cell death negative regulation of natural killer cell activation intracellular signal transduction uc003gmo.1 uc003gmo.2 uc003gmo.3 uc003gmo.4 uc003gmo.5 uc003gmo.6 
ENST00000227155.9 CD82 ENST00000227155.9 Homo sapiens CD82 molecule (CD82), transcript variant 1, mRNA. (from RefSeq NM_002231) CD82_HUMAN D3DQN6 ENST00000227155.1 ENST00000227155.2 ENST00000227155.3 ENST00000227155.4 ENST00000227155.5 ENST00000227155.6 ENST00000227155.7 ENST00000227155.8 KAI1 NM_002231 P27701 Q7Z2D4 SAR2 ST6 TSPAN27 uc001myc.1 uc001myc.2 uc001myc.3 uc001myc.4 uc001myc.5 This metastasis suppressor gene product is a membrane glycoprotein that is a member of the transmembrane 4 superfamily. Expression of this gene has been shown to be downregulated in tumor progression of human cancers and can be activated by p53 through a consensus binding sequence in the promoter. Its expression and that of p53 are strongly correlated, and the loss of expression of these two proteins is associated with poor survival for prostate cancer patients. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Associates with CD4 or CD8 and delivers costimulatory signals for the TCR/CD3 pathway. Interacts directly with IGSF8. Q8TAA9:VANGL1; NbExp=6; IntAct=EBI-682379, EBI-682393; Membrane; Multi-pass membrane protein. Lymphoid specific. Belongs to the tetraspanin (TM4SF) family. protein binding plasma membrane integral component of plasma membrane membrane integral component of membrane extracellular exosome uc001myc.1 uc001myc.2 uc001myc.3 uc001myc.4 uc001myc.5 
ENST00000227214.10 PLEKHB1 ENST00000227214.10 Homo sapiens pleckstrin homology domain containing B1 (PLEKHB1), transcript variant 4, mRNA. (from RefSeq NM_001130035) A8K0Q5 B2RBP1 B7Z716 ENST00000227214.1 ENST00000227214.2 ENST00000227214.3 ENST00000227214.4 ENST00000227214.5 ENST00000227214.6 ENST00000227214.7 ENST00000227214.8 ENST00000227214.9 EVT1 KPL1 NM_001130035 PHR1 PHRET1 PKHB1_HUMAN Q9UBF5 Q9UF11 Q9UI37 Q9UI44 uc001oud.1 uc001oud.2 uc001oud.3 Required for proper localization of retinogeniculate projections but not for eye-specific segregation (By similarity). Homodimer. Interacts (via PH domain) with MYO1C. Interacts (via PH domain) with MYO7A (By similarity). Binds transducins. Membrane. Cytoplasm (By similarity). Note=Localizes to the apical juxta-nuclear Golgi region of the cytoplasm (By similarity). Membrane-associated. Highly expressed in the outer segments of photoreceptor cells, both in rods and cones. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9UF11-1; Sequence=Displayed; Name=2; IsoId=Q9UF11-2; Sequence=VSP_009780; Name=3; IsoId=Q9UF11-3; Sequence=VSP_009779; Name=4; IsoId=Q9UF11-4; Sequence=VSP_009779, VSP_009780; Highly expressed in retina and brain. Levels are very low or not detectable in all other tissues tested. Contains 1 PH domain. protein binding cytoplasm multicellular organism development phototransduction membrane integral component of membrane regulation of cell differentiation uc001oud.1 uc001oud.2 uc001oud.3 
ENST00000227266.10 CTSC ENST00000227266.10 Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA. (from RefSeq NM_001814) A8K7V2 B5MDD5 CATC_HUMAN CPPI ENST00000227266.1 ENST00000227266.2 ENST00000227266.3 ENST00000227266.4 ENST00000227266.5 ENST00000227266.6 ENST00000227266.7 ENST00000227266.8 ENST00000227266.9 NM_001814 P53634 Q2HIY8 Q53G93 Q71E75 Q71E76 Q7M4N9 Q7Z3G7 Q7Z5U7 Q8WY99 Q8WYA7 Q8WYA8 uc001pck.1 uc001pck.2 uc001pck.3 uc001pck.4 uc001pck.5 uc001pck.6 This gene encodes a member of the peptidase C1 family and lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in cells of the immune system. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate heavy and light chains that form a disulfide-linked dimer. A portion of the propeptide acts as an intramolecular chaperone for the folding and stabilization of the mature enzyme. This enzyme requires chloride ions for activity and can degrade glucagon. Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre syndrome, an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis. [provided by RefSeq, Nov 2015]. Thiol protease. Has dipeptidylpeptidase activity. Active against a broad range of dipeptide substrates composed of both polar and hydrophobic amino acids. Proline cannot occupy the P1 position and arginine cannot occupy the P2 position of the substrate. Can act as both an exopeptidase and endopeptidase. Activates serine proteases such as elastase, cathepsin G and granzymes A and B. Can also activate neuraminidase and factor XIII. Release of an N-terminal dipeptide, Xaa-Yaa-|- Zaa-, except when Xaa is Arg or Lys, or Yaa or Zaa is Pro. Binds 1 chloride ion per heavy chain. Strongly inhibited by the cysteine peptidase inhibitors mersalyl acid, iodoacetic acid and cystatin. Inhibited by N-ethylmaleimide, Gly-Phe-diazomethane, TLCK, TPCK and, at low pH, by dithiodipyridine. Not inhibited by the serine peptidase inhibitor PMSF, the aminopeptidase inhibitor bestatin, or metal ion chelators. pH dependence: High activity at pH 4.5-6.8; Tetramer of heterotrimers consisting of exclusion domain, heavy- and light chains. Lysosome. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P53634-1; Sequence=Displayed; Name=2; IsoId=P53634-2; Sequence=VSP_039123, VSP_039124; Name=3; IsoId=P53634-3; Sequence=VSP_043232, VSP_043233; Note=No experimental confirmation available; Ubiquitous. Highly expressed in lung, kidney and placenta. Detected at intermediate levels in colon, small intestine, spleen and pancreas. Up-regulated in lymphocytes by IL2/interleukin-2. N-glycosylated. While glycosylation at Asn-53, Asn-119 and Asn-276 is mediated by STT3A-containing complexes, glycosylation at Asn-29 is mediated STT3B-containing complexes. In approximately 50% of the complexes the exclusion domain is cleaved at position 58 or 61. The two parts of the exclusion domain are held together by a disulfide bond. Defects in CTSC are a cause of Papillon-Lefevre syndrome (PLS) [MIM:245000]; also known as keratosis palmoplantaris with periodontopathia. PLS is an autosomal recessive disorder characterized by palmoplantar keratosis and severe periodontitis affecting deciduous and permanent dentitions and resulting in premature tooth loss. The palmoplantar keratotic phenotype vary from mild psoriasiform scaly skin to overt hyperkeratosis. Keratosis also affects other sites such as elbows and knees. Defects in CTSC are a cause of Haim-Munk syndrome (HMS) [MIM:245010]; also known as keratosis palmoplantaris with periodontopathia and onychogryposis or Cochin Jewish disorder. HMS is an autosomal recessive disorder characterized by palmoplantar keratosis, onychogryphosis and periodontitis. Additional features are pes planus, arachnodactyly, and acroosteolysis. Defects in CTSC are a cause of aggressive periodontititis type 1 (AP1) [MIM:170650]; also known as juvenile periodontitis (JPD) and prepubertal periodontitis (PPP). AP1 is characterized by severe and protracted gingival infections, leading to tooth loss. AP1 inheritance is autosomal dominant. Belongs to the peptidase C1 family. Sequence=CAD97897.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Name=CTSCbase; Note=CTSC mutation db; URL="http://bioinf.uta.fi/CTSCbase/"; Golgi membrane T cell mediated cytotoxicity cysteine-type endopeptidase activity serine-type endopeptidase activity protein binding extracellular region extracellular space nucleoplasm cytoplasm lysosome endoplasmic reticulum endoplasmic reticulum lumen Golgi apparatus centrosome proteolysis ER to Golgi vesicle-mediated transport apoptotic process immune response aging peptidase activity cysteine-type peptidase activity response to organic substance membrane peptidase activator activity involved in apoptotic process hydrolase activity phosphatase binding ER to Golgi transport vesicle chloride ion binding negative regulation of myelination endoplasmic reticulum-Golgi intermediate compartment membrane azurophil granule lumen identical protein binding intracellular membrane-bounded organelle neutrophil degranulation protein self-association COPII vesicle coating chaperone binding proteolysis involved in cellular protein catabolic process extracellular exosome positive regulation of proteolysis involved in cellular protein catabolic process positive regulation of microglial cell activation positive regulation of apoptotic signaling pathway uc001pck.1 uc001pck.2 uc001pck.3 uc001pck.4 uc001pck.5 uc001pck.6 
ENST00000227322.8 ZPR1 ENST00000227322.8 Homo sapiens ZPR1 zinc finger (ZPR1), transcript variant 1, mRNA. (from RefSeq NM_003904) ENST00000227322.1 ENST00000227322.2 ENST00000227322.3 ENST00000227322.4 ENST00000227322.5 ENST00000227322.6 ENST00000227322.7 NM_003904 O75312 Q2TAA0 ZNF259 ZPR1_HUMAN uc001ppp.1 uc001ppp.2 uc001ppp.3 uc001ppp.4 uc001ppp.5 The protein encoded by this gene is found in the cytoplasm of quiescent cells but translocates to the nucleolus in proliferating cells. The encoded protein interacts with survival motor neuron protein (SMN1) to enhance pre-mRNA splicing and to induce neuronal differentiation and axonal growth. Defects in this gene or the SMN1 gene can cause spinal muscular atrophy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]. May be a signaling molecule that communicates mitogenic signals from the cytoplasm to the nucleus. Binds to the EGF and PDGF receptors. Binds to the elongation factor 1-alpha EF1A (By similarity). Component of an import snRNP complex composed of KPNB1, SNUPN, SMN1 and ZNF259. Cytoplasm. Nucleus, nucleolus. Note=Translocates to the nucleolus after treatment with mitogens. Belongs to the ZPR1 family. microtubule cytoskeleton organization inner cell mass cell proliferation trophectodermal cell proliferation protein binding nucleus nucleoplasm nucleolus cytoplasm mRNA processing signal transduction zinc ion binding RNA splicing positive regulation of gene expression Cajal body spinal cord development cell differentiation axon growth cone Cajal body organization receptor tyrosine kinase binding translation initiation factor binding regulation of myelination positive regulation of RNA splicing DNA endoreduplication positive regulation of protein import into nucleus cell projection neuronal cell body perikaryon positive regulation of growth metal ion binding perinuclear region of cytoplasm axon development cellular response to epidermal growth factor stimulus positive regulation of transcription involved in G1/S transition of mitotic cell cycle Gemini of coiled bodies apoptotic process involved in development pre-mRNA catabolic process negative regulation of motor neuron apoptotic process uc001ppp.1 uc001ppp.2 uc001ppp.3 uc001ppp.4 uc001ppp.5 
ENST00000227348.9 CRTAM ENST00000227348.9 Homo sapiens cytotoxic and regulatory T cell molecule (CRTAM), transcript variant 1, mRNA. (from RefSeq NM_019604) CRTAM_HUMAN ENST00000227348.1 ENST00000227348.2 ENST00000227348.3 ENST00000227348.4 ENST00000227348.5 ENST00000227348.6 ENST00000227348.7 ENST00000227348.8 NM_019604 O95727 Q59EI1 Q6IRX2 uc001pyj.1 uc001pyj.2 uc001pyj.3 uc001pyj.4 uc001pyj.5 The CRTAM gene is upregulated in CD4 (see MIM 186940)-positive and CD8 (see CD8A; MIM 186910)-positive T cells and encodes a type I transmembrane protein with V and C1-like Ig domains (Yeh et al., 2008 [PubMed 18329370]).[supplied by OMIM, Feb 2009]. Interaction with CADM1 promotes natural killer (NK) cell cytotoxicity and interferon-gamma (IFN-gamma) secretion by CD8+ cells in vitro as well as NK cell-mediated rejection of tumors expressing CADM3 in vivo. Interacts with CADM1. Membrane; Single-pass type I membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O95727-1; Sequence=Displayed; Name=2; IsoId=O95727-2; Sequence=VSP_052471, VSP_052472; Note=No experimental confirmation available; In the immune system, expression is restricted to activated class-I MHC-restricted cells, including NKT and CD8 cells. Strongly expressed in spleen, thymus, small intestine, peripheral blood leukocyte, and in Purkinje neurons in cerebellum. Expressed at much lower levels in testis, ovary, colon, lung and lymphoid tissues. Belongs to the nectin family. Contains 1 Ig-like C2-type (immunoglobulin-like) domain. Contains 1 Ig-like V-type (immunoglobulin-like) domain. Sequence=BAD93067.1; Type=Erroneous initiation; adaptive immune response detection of tumor cell immune system process positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target receptor binding protein binding plasma membrane cell recognition membrane integral component of membrane identical protein binding positive regulation of natural killer cell mediated cytotoxicity positive regulation of cytokine secretion regulation of immune response detection of stimulus T cell mediated cytotoxicity activated T cell proliferation uc001pyj.1 uc001pyj.2 uc001pyj.3 uc001pyj.4 uc001pyj.5 
ENST00000227349.7 JHY ENST00000227349.7 Homo sapiens junctional cadherin complex regulator (JHY), transcript variant 1, mRNA. (from RefSeq NM_024806) A8K6G0 C11orf63 CK063_HUMAN ENST00000227349.1 ENST00000227349.2 ENST00000227349.3 ENST00000227349.4 ENST00000227349.5 ENST00000227349.6 NM_024806 Q6NUN7 Q96GB5 Q9H5D6 uc001pym.1 uc001pym.2 uc001pym.3 uc001pym.4 uc001pym.5 uc001pym.6 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6NUN7-1; Sequence=Displayed; Name=2; IsoId=Q6NUN7-2; Sequence=VSP_023915, VSP_023916; Sequence=AAH09820.2; Type=Erroneous initiation; Sequence=BAB15691.1; Type=Erroneous initiation; brain development cell projection organization ciliary basal body organization cerebrospinal fluid secretion axoneme assembly uc001pym.1 uc001pym.2 uc001pym.3 uc001pym.4 uc001pym.5 uc001pym.6 
ENST00000227451.4 DTX4 ENST00000227451.4 Homo sapiens deltex E3 ubiquitin ligase 4 (DTX4), transcript variant 1, mRNA. (from RefSeq NM_015177) DTX4_HUMAN ENST00000227451.1 ENST00000227451.2 ENST00000227451.3 KIAA0937 NM_015177 Q0VF38 Q9Y2E6 RNF155 uc001nns.1 uc001nns.2 uc001nns.3 uc001nns.4 Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations (By similarity). Functions as an ubiquitin ligase protein in vivo, mediating 'Lys48'-linked polyubiquitination and promoting degradation of TBK1, targeting to TBK1 requires interaction with NLRP4. Protein modification; protein ubiquitination. Interacts with NLRP4. Cytoplasm (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y2E6-1; Sequence=Displayed; Name=2; IsoId=Q9Y2E6-2; Sequence=VSP_023784; The WWE domains are thought to mediate some protein- protein interaction, and are frequently found in ubiquitin ligases (By similarity). Belongs to the Deltex family. Contains 1 RING-type zinc finger. Contains 2 WWE domains. Sequence=BAA76781.1; Type=Erroneous initiation; ubiquitin-protein transferase activity cytoplasm cytosol Notch signaling pathway zinc ion binding protein ubiquitination transferase activity regulation of type I interferon production metal ion binding uc001nns.1 uc001nns.2 uc001nns.3 uc001nns.4 
ENST00000227471.7 UNC93B1 ENST00000227471.7 Homo sapiens unc-93 homolog B1, TLR signaling regulator (UNC93B1), mRNA. (from RefSeq NM_030930) ENST00000227471.1 ENST00000227471.2 ENST00000227471.3 ENST00000227471.4 ENST00000227471.5 ENST00000227471.6 NM_030930 O95764 Q569H6 Q710D4 Q9H1C4 UN93B_HUMAN UNC93 UNC93B uc031xth.1 uc031xth.2 This gene encodes a protein that is involved in innate and adaptive immune response by regulating toll-like receptor signaling. The encoded protein traffics nucleotide sensing toll-like receptors to the endolysosome from the endoplasmic reticulum. Deficiency of the encoded protein has been associated with herpes simplex encephalitis. [provided by RefSeq, Feb 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1053743.1, SRR3476690.884834.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000227471.7/ ENSP00000227471.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Plays an important role in innate and adaptive immunity by regulating nucleotide-sensing Toll-like receptor (TLR) signaling. Required for the transport of a subset of TLRs (including TLR3, TLR7 and TLR9) from the endoplasmic reticulum to endolysosomes where they can engage pathogen nucleotides and activate signaling cascades. May play a role in autoreactive B- cells removal. Interacts with TLR3, TLR7, and TLR9 (probably via transmembrane domain) (By similarity). Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity). Endosome (By similarity). Lysosome (By similarity). Cytoplasmic vesicle, phagosome (By similarity). Note=Relocalizes from endoplasmic reticulum to endosome and lysosome upon cell-stimulation with CpG dinucleotides (By similarity). Colocalizes with LAMP5 in large endosomal intracellular vesicles. Expressed in plasmocytoid dendritic cells (at protein level). Highly expressed in antigen-presenting cells. Expressed in heart, and at lower level in kidney. Expressed at low level in other tissues. Up-regulated by TLRs agonists. N-glycosylated (By similarity). Defects in UNC93B1 are associated with herpes simplex encephalitis type 1 (HSE1) [MIM:610551]. HSE is a rare complication of human herpesvirus 1 (HHV-1) infection, occurring in only a small minority of HHV-1 infected individuals. HSE is characterized by hemorrhagic necrosis of parts of the temporal and frontal lobes. Onset is over several days and involves fever, headache, seizures, stupor, and often coma, frequently with a fatal outcome. Note=Mutations in UNC93B1 resulting in autosomal recessive UNC93B1 deficieny predispose otherwise healthy individuals to isolated herpes simplex encephalitis due to impaired IFNs production. UNC93B1 deficieny, however, does not compromise immunity to most pathogens, unlike most known primary immunodeficiencies. Belongs to the unc-93 family. Sequence=AAD15416.1; Type=Erroneous gene model prediction; Name=UNC93B1base; Note=UNC93B1 mutation db; URL="http://bioinf.uta.fi/UNC93B1base/"; Golgi membrane toll-like receptor signaling pathway adaptive immune response immune system process protein binding lysosome endosome endoplasmic reticulum endoplasmic reticulum membrane intracellular protein transport membrane integral component of membrane cytoplasmic vesicle early phagosome toll-like receptor 3 signaling pathway toll-like receptor 7 signaling pathway toll-like receptor 9 signaling pathway Toll-like receptor binding innate immune response phagocytic vesicle defense response to virus uc031xth.1 uc031xth.2 
ENST00000227474.8 PUS3 ENST00000227474.8 Homo sapiens pseudouridine synthase 3 (PUS3), transcript variant 1, mRNA. (from RefSeq NM_031307) B2RAM0 ENST00000227474.1 ENST00000227474.2 ENST00000227474.3 ENST00000227474.4 ENST00000227474.5 ENST00000227474.6 ENST00000227474.7 FKSG32 NM_031307 PUS3_HUMAN Q96D17 Q96J23 Q96NB4 Q9BZE2 uc001qcy.1 uc001qcy.2 uc001qcy.3 uc001qcy.4 The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]. Formation of pseudouridine at position 39 in the anticodon stem and loop of transfer RNAs (By similarity). tRNA uridine(38/39) = tRNA pseudouridine(38/39). Nucleus (Potential). Belongs to the tRNA pseudouridine synthase TruA family. pseudouridine synthesis RNA binding nucleus cytoplasm cytosol tRNA modification tRNA processing RNA modification pseudouridine synthase activity isomerase activity tRNA pseudouridine synthesis mRNA pseudouridine synthesis uc001qcy.1 uc001qcy.2 uc001qcy.3 uc001qcy.4 
ENST00000227507.3 CCND1 ENST00000227507.3 Homo sapiens cyclin D1 (CCND1), mRNA. (from RefSeq NM_053056) ENST00000227507.1 ENST00000227507.2 NM_053056 Q6FI00 Q6FI00_HUMAN hCG_2016647 uc001opa.1 uc001opa.2 uc001opa.3 uc001opa.4 uc001opa.5 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of human cancers. [provided by RefSeq, Dec 2019]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC023620.2, X59798.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000227507.3/ ENSP00000227507.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Belongs to the cyclin family. regulation of cyclin-dependent protein serine/threonine kinase activity G1/S transition of mitotic cell cycle negative regulation of transcription from RNA polymerase II promoter cyclin-dependent protein kinase holoenzyme complex re-entry into mitotic cell cycle liver development protein kinase activity nucleus nucleoplasm cytoplasm bicellular tight junction protein phosphorylation lactation positive regulation of cell proliferation response to organic substance response to iron ion response to X-ray response to organonitrogen compound response to organic cyclic compound Wnt signaling pathway kinase activity cyclin-dependent protein serine/threonine kinase regulator activity protein kinase binding negative regulation of epithelial cell differentiation endoplasmic reticulum unfolded protein response animal organ regeneration response to magnesium ion response to estradiol response to vitamin E Leydig cell differentiation mammary gland epithelial cell proliferation positive regulation of mammary gland epithelial cell proliferation response to drug response to estrogen macromolecular complex binding fat cell differentiation response to ethanol response to steroid hormone positive regulation of epithelial cell proliferation response to glucocorticoid response to corticosterone response to calcium ion regulation of cell cycle mammary gland alveolus development cellular response to organic substance liver regeneration regulation of G1/S transition of mitotic cell cycle uc001opa.1 uc001opa.2 uc001opa.3 uc001opa.4 uc001opa.5 
ENST00000227520.10 CCDC86 ENST00000227520.10 Homo sapiens coiled-coil domain containing 86 (CCDC86), mRNA. (from RefSeq NM_024098) CCD86_HUMAN CYCLON ENST00000227520.1 ENST00000227520.2 ENST00000227520.3 ENST00000227520.4 ENST00000227520.5 ENST00000227520.6 ENST00000227520.7 ENST00000227520.8 ENST00000227520.9 NM_024098 Q9H6F5 uc001nqa.1 uc001nqa.2 uc001nqa.3 uc001nqa.4 Interacts with hepatitis C virus (HCV) protein NS5A. Nucleus (By similarity). RNA binding protein binding nucleus nucleolus viral process uc001nqa.1 uc001nqa.2 uc001nqa.3 uc001nqa.4 
ENST00000227524.9 PRPF19 ENST00000227524.9 Homo sapiens pre-mRNA processing factor 19 (PRPF19), mRNA. (from RefSeq NM_014502) ENST00000227524.1 ENST00000227524.2 ENST00000227524.3 ENST00000227524.4 ENST00000227524.5 ENST00000227524.6 ENST00000227524.7 ENST00000227524.8 NMP200 NM_014502 PRP19 PRP19_HUMAN Q9UMS4 SNEV uc001nqf.1 uc001nqf.2 uc001nqf.3 uc001nqf.4 uc001nqf.5 PSO4 is the human homolog of yeast Pso4, a gene essential for cell survival and DNA repair (Beck et al., 2008 [PubMed 18263876]).[supplied by OMIM, Sep 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1095229.1, SRR3476690.922188.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000227524.9/ ENSP00000227524.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays a role in DNA double-strand break (DSB) repair. Binds double-stranded DNA in a sequence-nonspecific manner. Acts as a structural component of the nuclear framework. May also serve as a support for spliceosome binding and activity. Essential for spliceosome assembly in a oligomerization-dependent manner and might also be important for spliceosome stability. May have E3 ubiquitin ligase activity. The PSO4 complex is required in the DNA interstrand cross-links (ICLs) repair process. Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. Homooligomer. Identified in the spliceosome C complex. Component of the PSO4 complex, composed of PRPF19, CDC5L, PLRG1. Component of the PRP19-CDC5L splicing complex composed of a core complex comprising a homotetramer of PRPF19, CDC5L, PLRG1 and BCAS2, and at least three less stably associated proteins CTNNBL1, CWC15 and HSPA8. Interacts in the complex directly with CDC5L, PLRG1 and BCAS2. Interacts with APEX1, DNTT and PSMB4. Nucleus. Nucleus, nucleoplasm. Cytoplasm, cytoskeleton, spindle. Note=Nucleoplasmic in interphase cells. Irregularly distributed in anaphase cells. In prophase cells, uniformly distributed, but not associated with condensing chromosomes. Found in extrachromosomal regions in metaphase cells. Mainly localized to the mitotic spindle apparatus when chromosomes segregate during anaphase. When nuclei reform during late telophase, uniformly distributed in daughter cells and displays no preferred association with decondensing chromatin. Ubiquitous. Weakly expressed in senescent cells of different tissue origins. Highly expressed in tumor cell lines. By gamma irradiation and chemical mutagens but not by UV irradiation. Belongs to the WD repeat PRP19 family. Contains 1 U-box domain. Contains 7 WD repeats. protein polyubiquitination spliceosomal tri-snRNP complex assembly spliceosomal complex assembly generation of catalytic spliceosome for first transesterification step mRNA splicing, via spliceosome Prp19 complex inner cell mass cell proliferation ubiquitin-protein transferase activity protein binding nucleus nucleoplasm spliceosomal complex cytoplasm lipid particle spindle cytoskeleton DNA repair transcription-coupled nucleotide-excision repair double-strand break repair via nonhomologous end joining mRNA processing cellular response to DNA damage stimulus RNA splicing lipid biosynthetic process proteasomal protein catabolic process membrane protein ubiquitination nuclear speck transferase activity ubiquitin-ubiquitin ligase activity cellular protein localization site of double-strand break identical protein binding positive regulation of neuron differentiation positive regulation of mRNA splicing, via spliceosome positive regulation of astrocyte differentiation ubiquitin protein ligase activity protein K63-linked ubiquitination U2-type catalytic step 1 spliceosome U2-type catalytic step 2 spliceosome catalytic step 2 spliceosome signal transduction involved in DNA damage checkpoint DNA replication factor A complex uc001nqf.1 uc001nqf.2 uc001nqf.3 uc001nqf.4 uc001nqf.5 
ENST00000227525.8 TMEM109 ENST00000227525.8 Homo sapiens transmembrane protein 109 (TMEM109), mRNA. (from RefSeq NM_024092) ENST00000227525.1 ENST00000227525.2 ENST00000227525.3 ENST00000227525.4 ENST00000227525.5 ENST00000227525.6 ENST00000227525.7 NM_024092 Q9BVC6 TM109_HUMAN uc001nqg.1 uc001nqg.2 uc001nqg.3 uc001nqg.4 uc001nqg.5 Nucleus outer membrane; Multi-pass membrane protein (By similarity). Endoplasmic reticulum membrane; Multi- pass membrane protein (By similarity). Sarcoplasmic reticulum membrane; Multi-pass membrane protein (By similarity). molecular_function voltage-gated ion channel activity nucleus nuclear outer membrane endoplasmic reticulum endoplasmic reticulum membrane ion transport membrane integral component of membrane sarcoplasmic reticulum sarcoplasmic reticulum membrane ion transmembrane transport regulation of ion transmembrane transport intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator negative regulation of cell death extracellular exosome cellular response to gamma radiation uc001nqg.1 uc001nqg.2 uc001nqg.3 uc001nqg.4 uc001nqg.5 
ENST00000227667.8 APOC3 ENST00000227667.8 Homo sapiens apolipoprotein C3 (APOC3), mRNA. (from RefSeq NM_000040) APOC3_HUMAN ENST00000227667.1 ENST00000227667.2 ENST00000227667.3 ENST00000227667.4 ENST00000227667.5 ENST00000227667.6 ENST00000227667.7 NM_000040 P02656 Q08E83 Q6Q786 uc001ppt.1 uc001ppt.2 uc001ppt.3 This gene encodes a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. The encoded protein plays a role in role in the metabolism of these TRLs through multiple modes. This protein has been shown to promote the secretion of VLDL1, inhibit lipoprotein lipase enzyme activity, and delay catabolism of TRL remnants. Mutations in this gene are associated with low plasma triglyceride levels and reduced risk of ischemic cardiovascular disease, and hyperalphalipoproteinemia, which is characterized by elevated levels of high density lipoprotein (HDL) and HDL cholesterol in human patients. This gene and other related genes comprise an apolipoprotein gene cluster on chromosome 11. [provided by RefSeq, Sep 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC027977.1, X01388.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000227667.8/ ENSP00000227667.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Inhibits lipoprotein lipase and hepatic lipase and decreases the uptake of lymph chylomicrons by hepatic cells. This suggests that it delays the catabolism of triglyceride-rich particles. Secreted. Constitutes 50% of the protein fraction of VLDL and 2% of that of HDL. Synthesized predominantly in liver and to a lesser degree in intestine. O-linked glycan consists of Gal-GalNAc disaccharide, further modified with up to 3 sialic acid residues. O-glycosylated on Thr- 94 with a core 1 or possibly core 8 glycan. Defects in APOC3 are the cause of hyperalphalipoproteinemia type 2 (HALP2) [MIM:614028]. HALP2 is a condition characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels. Belongs to the apolipoprotein C3 family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APOC3"; retinoid metabolic process phospholipid binding extracellular region extracellular space early endosome lipid metabolic process triglyceride metabolic process lipid transport G-protein coupled receptor signaling pathway lipid binding negative regulation of triglyceride catabolic process negative regulation of very-low-density lipoprotein particle remodeling negative regulation of very-low-density lipoprotein particle clearance negative regulation of high-density lipoprotein particle clearance negative regulation of low-density lipoprotein particle clearance cholesterol binding lipid catabolic process triglyceride catabolic process enzyme regulator activity regulation of Cdc42 protein signal transduction cholesterol efflux phospholipid efflux very-low-density lipoprotein particle intermediate-density lipoprotein particle spherical high-density lipoprotein particle chylomicron remodeling high-density lipoprotein particle remodeling chylomicron assembly very-low-density lipoprotein particle assembly chylomicron remnant clearance lipoprotein metabolic process chylomicron cholesterol homeostasis reverse cholesterol transport negative regulation of fatty acid biosynthetic process negative regulation of lipid metabolic process negative regulation of receptor-mediated endocytosis negative regulation of lipid catabolic process negative regulation of lipoprotein lipase activity lipase inhibitor activity negative regulation of cholesterol import extracellular exosome triglyceride homeostasis high-density lipoprotein particle receptor binding uc001ppt.1 uc001ppt.2 uc001ppt.3 
ENST00000227752.8 IL10RA ENST00000227752.8 Homo sapiens interleukin 10 receptor subunit alpha (IL10RA), transcript variant 1, mRNA. (from RefSeq NM_001558) A8K6I0 B0YJ27 ENST00000227752.1 ENST00000227752.2 ENST00000227752.3 ENST00000227752.4 ENST00000227752.5 ENST00000227752.6 ENST00000227752.7 I10R1_HUMAN IL10R NM_001558 Q13651 uc001prv.1 uc001prv.2 uc001prv.3 uc001prv.4 uc001prv.5 uc001prv.6 The protein encoded by this gene is a receptor for interleukin 10. This protein is structurally related to interferon receptors. It has been shown to mediate the immunosuppressive signal of interleukin 10, and thus inhibits the synthesis of proinflammatory cytokines. This receptor is reported to promote survival of progenitor myeloid cells through the insulin receptor substrate-2/PI 3-kinase/AKT pathway. Activation of this receptor leads to tyrosine phosphorylation of JAK1 and TYK2 kinases. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2009]. Receptor for IL10; binds IL10 with a high affinity. P03180:BCRF1 (xeno); NbExp=2; IntAct=EBI-1031656, EBI-1042167; Membrane; Single-pass type I membrane protein. Spleen, thymus, and PBMC. Weak expression in pancreas, skeletal muscle, brain, heart, and kidney. Placenta, lung, and liver showed intermediate levels. Monocytes, B-cells, large granular lymphocytes, and T-cells express high levels. Defects in IL10RA are the cause of inflammatory bowel disease type 28 (IBD28) [MIM:613148]. It is a chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. Belongs to the type II cytokine receptor family. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il10ra/"; cytokine receptor activity interleukin-10 receptor activity protein binding cytoplasm plasma membrane negative regulation of autophagy membrane integral component of membrane cytokine-mediated signaling pathway interleukin-10 binding response to lipopolysaccharide signaling receptor activity positive regulation of JAK-STAT cascade regulation of synapse organization ubiquitin-dependent endocytosis uc001prv.1 uc001prv.2 uc001prv.3 uc001prv.4 uc001prv.5 uc001prv.6 
ENST00000227756.5 GALNT18 ENST00000227756.5 Homo sapiens polypeptide N-acetylgalactosaminyltransferase 18 (GALNT18), transcript variant 1, mRNA. (from RefSeq NM_198516) ENST00000227756.1 ENST00000227756.2 ENST00000227756.3 ENST00000227756.4 GALNTL4 GLTL4_HUMAN NM_198516 O95903 Q6P9A2 Q8NDY9 uc001mjo.1 uc001mjo.2 uc001mjo.3 uc001mjo.4 May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor (By similarity). UDP-N-acetyl-D-galactosamine + polypeptide = UDP + N-acetyl-D-galactosaminyl-polypeptide. Manganese (By similarity). Calcium (By similarity). Protein modification; protein glycosylation. Golgi apparatus membrane; Single-pass type II membrane protein (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6P9A2-1; Sequence=Displayed; Name=2; IsoId=Q6P9A2-2; Sequence=VSP_011234, VSP_011235; Note=No experimental confirmation available; There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding (By similarity). The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity (By similarity). Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Contains 1 ricin B-type lectin domain. Sequence=AAD20062.1; Type=Erroneous initiation; Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; Golgi membrane polypeptide N-acetylgalactosaminyltransferase activity cellular_component Golgi apparatus protein glycosylation protein O-linked glycosylation membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups carbohydrate binding metal ion binding uc001mjo.1 uc001mjo.2 uc001mjo.3 uc001mjo.4 
ENST00000227758.7 BIRC2 ENST00000227758.7 Homo sapiens baculoviral IAP repeat containing 2 (BIRC2), transcript variant 1, mRNA. (from RefSeq NM_001166) API1 BIRC2_HUMAN ENST00000227758.1 ENST00000227758.2 ENST00000227758.3 ENST00000227758.4 ENST00000227758.5 ENST00000227758.6 IAP2 MIHB NM_001166 Q13490 Q16516 Q4TTG0 RNF48 uc001pgy.1 uc001pgy.2 uc001pgy.3 uc001pgy.4 uc001pgy.5 uc001pgy.6 The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. This encoded protein inhibits apoptosis induced by serum deprivation and menadione, a potent inducer of free radicals. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. Multi-functional protein which regulates not only caspases and apoptosis, but also modulates inflammatory signaling and immunity, mitogenic kinase signaling, and cell proliferation, as well as cell invasion and metastasis. Acts as an E3 ubiquitin- protein ligase regulating NF-kappa-B signaling and regulates both canonical and non-canonical NF-kappa-B signaling by acting in opposite directions: acts as a positive regulator of the canonical pathway and suppresses constitutive activation of non-canonical NF-kappa-B signaling. The target proteins for its E3 ubiquitin- protein ligase activity include: RIPK1, RIPK2, RIPK3, RIPK4, CASP3, CASP7, CASP8, TRAF2, DIABLO/SMAC, MAP3K14/NIK, MAP3K5/ASK1, IKBKG/NEMO and MXD1/MAD1. Can also function as an E3 ubiquitin- protein ligase of the NEDD8 conjugation pathway, targeting effector caspases for neddylation and inactivation. Acts as an important regulator of innate immune signaling via regulation of Toll-like receptors (TLRs), Nodlike receptors (NLRs) and RIG-I like receptors (RLRs), collectively referred to as pattern recognition receptors (PRRs). Protects cells from spontaneous formation of the ripoptosome, a large multi-protein complex that has the capability to kill cancer cells in a caspase-dependent and caspase-independent manner. Suppresses ripoptosome formation by ubiquitinating RIPK1 and CASP8. Can stimulate the transcriptional activity of E2F1. Plays a role in the modulation of the cell cycle. The CARD domain inhibits the activation of E3 ubiquitin ligase activity by preventing RING domain dimerization and E2 ubiquitin donor binding and activation. The CARD domain- mediated autoinhibition of the E3 ubiquitin-protein ligase activity suppresses cell proliferation and migration. USP19 regulates the stability of BIRC2/c-IAP1 by preventing its ubiquitination. Interacts with DIABLO/SMAC and with PRSS25; these interactions inhibit apoptotic suppressor activity. Interacts with CASP9. Interacts (via BIR domains) with TRAF2. Interacts with E2F1, RIPK1, RIPK2, RIPK3, RIPK4, BIRC5/survivin and USP19. P55210:CASP7; NbExp=2; IntAct=EBI-514538, EBI-523958; Q9NR28:DIABLO; NbExp=4; IntAct=EBI-514538, EBI-517508; Q13546:RIPK1; NbExp=3; IntAct=EBI-514538, EBI-358507; O43353:RIPK2; NbExp=3; IntAct=EBI-514538, EBI-358522; Q9Y572:RIPK3; NbExp=3; IntAct=EBI-514538, EBI-298250; P57078:RIPK4; NbExp=3; IntAct=EBI-514538, EBI-4422308; Q9NP84:TNFRSF12A; NbExp=2; IntAct=EBI-514538, EBI-2851995; Q12933:TRAF2; NbExp=8; IntAct=EBI-514538, EBI-355744; Cytoplasm. Nucleus. Note=Agents that induce either the extrinsic or intrinsic apoptotic pathways promote its redistribution from the nuclear compartment to the cytoplasmic compartment. Associated with the midbody in telophase cells, and found diffusely in the nucleus of interphase cells. Present in many fetal and adult tissues. Mainly expressed in adult skeletal muscle, thymus, testis, ovary, and pancreas, low or absent in brain and peripheral blood leukocytes. The BIR domains mediate nuclear localization. The CARD domain is necessary to stabilize the protein and inhibit the activation of E3 ubiquitin-protein ligase activity of BIRC2/c-IAP1 by preventing RING domain dimerization and E2 ubiquitin donor binding and activation. Auto-ubiquitinated and degraded by the proteasome in apoptotic cells. Belongs to the IAP family. Contains 3 BIR repeats. Contains 1 CARD domain. Contains 1 RING-type zinc finger. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/birc2/"; protein polyubiquitination response to hypoxia XY body placenta development MyD88-independent toll-like receptor signaling pathway transcription coactivator activity ubiquitin-protein transferase activity protein binding nucleus cytoplasm cytosol apoptotic process cell surface receptor signaling pathway I-kappaB kinase/NF-kappaB signaling zinc ion binding cytoplasmic side of plasma membrane response to organonitrogen compound regulation of tumor necrosis factor-mediated signaling pathway response to organic cyclic compound protein deubiquitination transferase activity positive regulation of protein ubiquitination macromolecular complex tumor necrosis factor-mediated signaling pathway regulation of toll-like receptor signaling pathway CD40 receptor complex TRIF-dependent toll-like receptor signaling pathway NIK/NF-kappaB signaling regulation of RIG-I signaling pathway regulation of cell proliferation identical protein binding regulation of apoptotic process cysteine-type endopeptidase inhibitor activity involved in apoptotic process negative regulation of apoptotic process positive regulation of I-kappaB kinase/NF-kappaB signaling ubiquitin binding negative regulation of cysteine-type endopeptidase activity involved in apoptotic process proteasome-mediated ubiquitin-dependent protein catabolic process regulation of innate immune response membrane raft response to ethanol regulation of cell differentiation metal ion binding protein N-terminus binding regulation of inflammatory response chaperone binding protein heterooligomerization response to cAMP regulation of cell cycle regulation of necroptotic process negative regulation of necroptotic process ubiquitin protein ligase activity necroptotic process regulation of nucleotide-binding oligomerization domain containing signaling pathway cellular response to tumor necrosis factor FBXO family protein binding regulation of NIK/NF-kappaB signaling negative regulation of ripoptosome assembly involved in necroptotic process positive regulation of protein K63-linked ubiquitination positive regulation of protein K48-linked ubiquitination positive regulation of protein monoubiquitination positive regulation of protein polyubiquitination positive regulation of nucleic acid-templated transcription inhibition of cysteine-type endopeptidase activity involved in apoptotic process regulation of cysteine-type endopeptidase activity regulation of reactive oxygen species metabolic process uc001pgy.1 uc001pgy.2 uc001pgy.3 uc001pgy.4 uc001pgy.5 uc001pgy.6 
ENST00000227868.9 PDHX ENST00000227868.9 Homo sapiens pyruvate dehydrogenase complex component X (PDHX), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_003477) D3DR11 ENST00000227868.1 ENST00000227868.2 ENST00000227868.3 ENST00000227868.4 ENST00000227868.5 ENST00000227868.6 ENST00000227868.7 ENST00000227868.8 NM_003477 O00330 O60221 ODPX_HUMAN PDX1 Q96FV8 Q99783 uc001mvt.1 uc001mvt.2 uc001mvt.3 uc001mvt.4 uc001mvt.5 The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]. Required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2) core of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional PDH complex. Eukaryotic pyruvate dehydrogenase complexes are organized about a core consisting of the oligomeric dihydrolipoamide acetyl- transferase, around which are arranged multiple copies of pyruvate dehydrogenase, dihydrolipoamide dehydrogenase and protein X bound by non-covalent bonds. Mitochondrion matrix. Defects in PDHX are the cause of pyruvate dehydrogenase E3-binding protein deficiency (PDHXD) [MIM:245349]. Belongs to the 2-oxoacid dehydrogenase family. Contains 1 lipoyl-binding domain. protein binding mitochondrion mitochondrial matrix pyruvate metabolic process transferase activity, transferring acyl groups pyruvate dehydrogenase complex mitochondrial acetyl-CoA biosynthetic process from pyruvate pyruvate dehydrogenase (NAD+) activity uc001mvt.1 uc001mvt.2 uc001mvt.3 uc001mvt.4 uc001mvt.5 
ENST00000227880.8 SLC15A3 ENST00000227880.8 Homo sapiens solute carrier family 15 member 3 (SLC15A3), transcript variant 1, mRNA. (from RefSeq NM_016582) ENST00000227880.1 ENST00000227880.2 ENST00000227880.3 ENST00000227880.4 ENST00000227880.5 ENST00000227880.6 ENST00000227880.7 NM_016582 OCTP PHT2 PTR3 Q8IY34 Q9P2X9 S15A3_HUMAN uc001nqn.1 uc001nqn.2 uc001nqn.3 uc001nqn.4 Proton oligopeptide cotransporter. Transports free histidine and certain di- and tripeptides (By similarity). Lysosome membrane; Multi-pass membrane protein. Belongs to the PTR2/POT transporter (TC 2.A.17) family. protein binding lysosome lysosomal membrane ion transport protein transport symporter activity peptide:proton symporter activity peptide transport membrane integral component of membrane transmembrane transporter activity oligopeptide transmembrane transport oligopeptide transmembrane transporter activity intracellular membrane-bounded organelle transmembrane transport hydrogen ion transmembrane transport peptide transmembrane transporter activity uc001nqn.1 uc001nqn.2 uc001nqn.3 uc001nqn.4 
ENST00000227918.3 SCGB2A2 ENST00000227918.3 Homo sapiens secretoglobin family 2A member 2 (SCGB2A2), mRNA. (from RefSeq NM_002411) A1A522 ENST00000227918.1 ENST00000227918.2 MGB1 NM_002411 Q13296 Q86WH8 SG2A2_HUMAN UGB2 uc001ntc.1 uc001ntc.2 uc001ntc.3 uc001ntc.4 uc001ntc.5 uc001ntc.6 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q13296-1; Sequence=Displayed; Name=2; IsoId=Q13296-2; Sequence=VSP_009122; Mammary gland specific. Over-expressed in breast cancer. Belongs to the secretoglobin family. Lipophilin subfamily. molecular_function protein binding cellular_component extracellular region extracellular space biological_process androgen receptor signaling pathway uc001ntc.1 uc001ntc.2 uc001ntc.3 uc001ntc.4 uc001ntc.5 uc001ntc.6 
ENST00000228027.12 DGAT2 ENST00000228027.12 Homo sapiens diacylglycerol O-acyltransferase 2 (DGAT2), transcript variant 1, mRNA. (from RefSeq NM_032564) A6ND76 DGAT2_HUMAN ENST00000228027.1 ENST00000228027.10 ENST00000228027.11 ENST00000228027.2 ENST00000228027.3 ENST00000228027.4 ENST00000228027.5 ENST00000228027.6 ENST00000228027.7 ENST00000228027.8 ENST00000228027.9 HMFN1045 NM_032564 Q5U810 Q68CL3 Q68DJ0 Q8NDB7 Q96BS0 Q96PD7 Q9BYE5 UNQ738/PRO1433 uc001oxa.1 uc001oxa.2 uc001oxa.3 uc001oxa.4 uc001oxa.5 This gene encodes one of two enzymes which catalyzes the final reaction in the synthesis of triglycerides in which diacylglycerol is covalently bound to long chain fatty acyl-CoAs. The encoded protein catalyzes this reaction at low concentrations of magnesium chloride while the other enzyme has high activity at high concentrations of magnesium chloride. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. Essential acyltransferase that catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates. Required for synthesis and storage of intracellular triglycerides. Probably plays a central role in cytosolic lipid accumulation. In liver, is primarily responsible for incorporating endogenously synthesized fatty acids into triglycerides (By similarity). Functions also as an acyl-CoA retinol acyltransferase (ARAT). Acyl-CoA + 1,2-diacylglycerol = CoA + triacylglycerol. Acyl-CoA + retinol = CoA + retinyl ester. Inhibited by niacin (By similarity). Glycerolipid metabolism; triacylglycerol biosynthesis. Forms multimeric complexes consisting of several DGAT2 subunits (By similarity). Endoplasmic reticulum membrane; Multi-pass membrane protein. Lipid droplet (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96PD7-1; Sequence=Displayed; Name=2; IsoId=Q96PD7-2; Sequence=VSP_020356; Predominantly expressed in liver and white adipose tissue. Expressed at lower level in mammary gland, testis and peripheral blood leukocytes. Expressed in sebaceous glands of normal skin but decreased psoriatic skin. Belongs to the diacylglycerol acyltransferase family. Sequence=BAD38635.1; Type=Erroneous initiation; Sequence=CAD38961.1; Type=Erroneous initiation; 2-acylglycerol O-acyltransferase activity diacylglycerol O-acyltransferase activity cytoplasm mitochondrion endoplasmic reticulum endoplasmic reticulum membrane lipid particle glycerol metabolic process lipid metabolic process positive regulation of triglyceride biosynthetic process membrane integral component of membrane transferase activity transferase activity, transferring acyl groups transferase activity, transferring acyl groups other than amino-acyl groups triglyceride biosynthetic process lipid storage integral component of endoplasmic reticulum membrane low-density lipoprotein particle clearance long-chain fatty-acyl-CoA metabolic process cellular triglyceride homeostasis acylglycerol acyl-chain remodeling retinol metabolic process cholesterol homeostasis protein homodimerization activity intracellular membrane-bounded organelle positive regulation of gluconeogenesis negative regulation of fatty acid oxidation diacylglycerol metabolic process perinuclear region of cytoplasm retinol O-fatty-acyltransferase activity regulation of lipoprotein metabolic process fatty acid homeostasis fat pad development cellular response to oleic acid regulation of cholesterol metabolic process regulation of plasma lipoprotein particle levels perinuclear endoplasmic reticulum membrane uc001oxa.1 uc001oxa.2 uc001oxa.3 uc001oxa.4 uc001oxa.5 
ENST00000228136.9 C11orf58 ENST00000228136.9 Homo sapiens chromosome 11 open reading frame 58 (C11orf58), mRNA. (from RefSeq NM_014267) B2RD28 ENST00000228136.1 ENST00000228136.2 ENST00000228136.3 ENST00000228136.4 ENST00000228136.5 ENST00000228136.6 ENST00000228136.7 ENST00000228136.8 NM_014267 O00193 SMAP SMAP_HUMAN uc001mmk.1 uc001mmk.2 uc001mmk.3 uc001mmk.4 Belongs to the SMAP family. molecular_function cellular_component biological_process uc001mmk.1 uc001mmk.2 uc001mmk.3 uc001mmk.4 
ENST00000228306.8 RPLP0 ENST00000228306.8 Ribosomal protein P0 is the functional equivalent of E.coli protein L10. (from UniProt P05388) AK001313 ENST00000228306.1 ENST00000228306.2 ENST00000228306.3 ENST00000228306.4 ENST00000228306.5 ENST00000228306.6 ENST00000228306.7 P05388 Q9BVK4 RLA0_HUMAN uc001txp.1 uc001txp.2 uc001txp.3 uc001txp.4 Ribosomal protein P0 is the functional equivalent of E.coli protein L10. P0 forms a pentameric complex by interaction with dimers of P1 and P2. Identified in a mRNP granule complex, at least composed of ACTB, ACTN4, DHX9, ERG, HNRNPA1, HNRNPA2B1, HNRNPAB, HNRNPD, HNRNPL, HNRNPR, HNRNPU, HSPA1, HSPA8, IGF2BP1, ILF2, ILF3, NCBP1, NCL, PABPC1, PABPC4, PABPN1, RPLP0, RPS3, RPS3A, RPS4X, RPS8, RPS9, SYNCRIP, TROVE2, YBX1 and untranslated mRNAs. Interacts with Lassa virus Z protein. Interacts with APEX1. O95793:STAU1; NbExp=4; IntAct=EBI-354101, EBI-358174; Nucleus. Cytoplasm. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Belongs to the ribosomal protein L10P family. ribosomal large subunit assembly nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic translation RNA binding structural constituent of ribosome protein binding nucleus cytoplasm endoplasmic reticulum cytosol ribosome focal adhesion translation translational initiation SRP-dependent cotranslational protein targeting to membrane postsynaptic density membrane viral transcription cytosolic large ribosomal subunit interleukin-12-mediated signaling pathway cytoplasmic ribonucleoprotein granule ribosome biogenesis extracellular exosome large ribosomal subunit rRNA binding postsynapse ribonucleoprotein complex uc001txp.1 uc001txp.2 uc001txp.3 uc001txp.4 
ENST00000228347.9 POLR3B ENST00000228347.9 Homo sapiens RNA polymerase III subunit B (POLR3B), transcript variant 1, mRNA. (from RefSeq NM_018082) A8K6H0 ENST00000228347.1 ENST00000228347.2 ENST00000228347.3 ENST00000228347.4 ENST00000228347.5 ENST00000228347.6 ENST00000228347.7 ENST00000228347.8 NM_018082 Q9NW08 Q9NW59 RPC2_HUMAN uc001tlp.1 uc001tlp.2 uc001tlp.3 uc001tlp.4 This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Second largest core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Proposed to contribute to the polymerase catalytic activity and forms the polymerase active center together with the largest subunit. Pol III is composed of mobile elements and RPC2 is part of the core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity). Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway. Nucleoside triphosphate + RNA(n) = diphosphate + RNA(n+1). Component of the RNA polymerase III (Pol III) complex consisting of 17 subunits (By similarity). Nucleus (By similarity). Defects in POLR3B are the cause of leukodystrophy, hypomyelinating, type 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381]. An autosomal recessive neurodegenerative disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism. Belongs to the RNA polymerase beta chain family. Sequence=BAA91527.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA91581.1; Type=Erroneous initiation; Note=Translation N-terminally extended; immune system process DNA binding DNA-directed 5'-3' RNA polymerase activity nucleus nucleoplasm DNA-directed RNA polymerase III complex cytosol transcription, DNA-templated transcription from RNA polymerase III promoter transferase activity nucleotidyltransferase activity positive regulation of type I interferon production ribonucleoside binding positive regulation of interferon-beta production innate immune response positive regulation of innate immune response metal ion binding defense response to virus RNA polymerase III activity uc001tlp.1 uc001tlp.2 uc001tlp.3 uc001tlp.4 
ENST00000228425.11 PPFIBP1 ENST00000228425.11 Homo sapiens PPFIA binding protein 1 (PPFIBP1), transcript variant 1, mRNA. (from RefSeq NM_003622) ENST00000228425.1 ENST00000228425.10 ENST00000228425.2 ENST00000228425.3 ENST00000228425.4 ENST00000228425.5 ENST00000228425.6 ENST00000228425.7 ENST00000228425.8 ENST00000228425.9 KIAA1230 LIPB1_HUMAN NM_003622 O75336 Q86W92 Q86X70 Q9NY03 Q9ULJ0 uc001rib.1 uc001rib.2 uc001rib.3 uc001rib.4 The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A. Forms homodimers and heterodimers. Interacts with S100A4 in a calcium-dependent mode. Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q86W92-1; Sequence=Displayed; Note=No experimental confirmation available; Name=2; IsoId=Q86W92-2; Sequence=VSP_009397, VSP_009398, VSP_009399, VSP_009400; Note=No experimental confirmation available; Name=3; IsoId=Q86W92-3; Sequence=VSP_009394; Note=No experimental confirmation available; Name=4; IsoId=Q86W92-4; Sequence=VSP_009397; Note=No experimental confirmation available; Name=5; Synonyms=L2; IsoId=Q86W92-5; Sequence=VSP_009395, VSP_009396; Note=Due to intron retention; Widely expressed. Absent in liver. The N-terminal coiled coil regions mediate homodimerization preferentially and heterodimerization type beta/beta. The C-terminal, non-coiled coil regions mediate heterodimerization type beta/alpha and interaction with S100A4. Belongs to the liprin family. Liprin-beta subfamily. Contains 3 SAM (sterile alpha motif) domains. Sequence=AAH46159.1; Type=Erroneous initiation; Sequence=BAA86544.2; Type=Erroneous initiation; cytosol plasma membrane focal adhesion cell adhesion cadherin binding uc001rib.1 uc001rib.2 uc001rib.3 uc001rib.4 
ENST00000228434.7 CD69 ENST00000228434.7 Homo sapiens CD69 molecule (CD69), mRNA. (from RefSeq NM_001781) ENST00000228434.1 ENST00000228434.2 ENST00000228434.3 ENST00000228434.4 ENST00000228434.5 ENST00000228434.6 NM_001781 Q53ZX0 Q53ZX0_HUMAN hCG_38142 uc001qwk.1 uc001qwk.2 uc001qwk.3 This gene encodes a member of the calcium dependent lectin superfamily of type II transmembrane receptors. Expression of the encoded protein is induced upon activation of T lymphocytes, and may play a role in proliferation. Furthermore, the protein may act to transmit signals in natural killer cells and platelets. [provided by RefSeq, Aug 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC007037.1, Z22576.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000228434.7/ ENSP00000228434.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## calcium ion binding external side of plasma membrane cell surface membrane integral component of membrane carbohydrate binding cellular response to drug uc001qwk.1 uc001qwk.2 uc001qwk.3 
ENST00000228437.10 PRDM4 ENST00000228437.10 Homo sapiens PR/SET domain 4 (PRDM4), mRNA. (from RefSeq NM_012406) ENST00000228437.1 ENST00000228437.2 ENST00000228437.3 ENST00000228437.4 ENST00000228437.5 ENST00000228437.6 ENST00000228437.7 ENST00000228437.8 ENST00000228437.9 NM_012406 PFM1 PRDM4_HUMAN Q9UFA6 Q9UKN5 uc001tmp.1 uc001tmp.2 uc001tmp.3 uc001tmp.4 uc001tmp.5 The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. An elevated expression level of this gene has been observed in PC12 cells treated with nerve growth factor, beta polypeptide (NGF). This gene is located in a chromosomal region that is thought to contain tumor suppressor genes. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.39635.1, SRR1660807.82133.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000228437.10/ ENSP00000228437.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## May function as a transcription factor involved in cell differentiation. Nucleus (Potential). Expressed in many tissues. Highly expressed in ovary, testis, pancreas, brain, heart and prostate. Contains 6 C2H2-type zinc fingers. Contains 1 SET domain. RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus cytoplasm transcription from RNA polymerase II promoter methyltransferase activity transferase activity chromatin DNA binding methylation histone methyltransferase complex sequence-specific DNA binding histone H4-R3 methylation positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding histone methyltransferase binding uc001tmp.1 uc001tmp.2 uc001tmp.3 uc001tmp.4 uc001tmp.5 
ENST00000228438.3 CLEC2B ENST00000228438.3 Homo sapiens C-type lectin domain family 2 member B (CLEC2B), mRNA. (from RefSeq NM_005127) AICL B2R9U1 CLC2B_HUMAN CLECSF2 ENST00000228438.1 ENST00000228438.2 IFNRG1 NM_005127 Q8IZE9 Q92478 Q9BS74 Q9UQB4 uc001qwn.1 uc001qwn.2 uc001qwn.3 uc001qwn.4 uc001qwn.5 This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may function as a cell activation antigen. An alternative splice variant has been described but its full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.267603.1, SRR1803615.357743.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Membrane; Single-pass type II membrane protein (Probable). Expressed preferentially in lymphoid tissues, and in most hematopoietic cell types. Contains 1 C-type lectin domain. Name=Functional Glycomics Gateway - Glycan Binding; Note=CD69 homolog; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_236"; plasma membrane integral component of plasma membrane membrane integral component of membrane carbohydrate binding identical protein binding regulation of immune response uc001qwn.1 uc001qwn.2 uc001qwn.3 uc001qwn.4 uc001qwn.5 
ENST00000228476.8 DAO ENST00000228476.8 Homo sapiens D-amino acid oxidase (DAO), mRNA. (from RefSeq NM_001917) B2R7I5 DAMOX ENST00000228476.1 ENST00000228476.2 ENST00000228476.3 ENST00000228476.4 ENST00000228476.5 ENST00000228476.6 ENST00000228476.7 NM_001917 OXDA_HUMAN P14920 Q16758 Q8N6R2 uc001tnr.1 uc001tnr.2 uc001tnr.3 uc001tnr.4 uc001tnr.5 uc001tnr.6 This gene encodes the peroxisomal enzyme D-amino acid oxidase. The enzyme is a flavoprotein which uses flavin adenine dinucleotide (FAD) as its prosthetic group. Its substrates include a wide variety of D-amino acids, but it is inactive on the naturally occurring L-amino acids. Its biological function is not known; it may act as a detoxifying agent which removes D-amino acids that accumulate during aging. In mice, it degrades D-serine, a co-agonist of the NMDA receptor. This gene may play a role in the pathophysiology of schizophrenia. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.254102.1, SRR3476690.493112.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000228476.8/ ENSP00000228476.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Regulates the level of the neuromodulator D-serine in the brain. Has high activity towards D-DOPA and contributes to dopamine synthesis. Could act as a detoxifying agent which removes D-amino acids accumulated during aging. Acts on a variety of D- amino acids with a preference for those having small hydrophobic side chains followed by those bearing polar, aromatic, and basic groups. Does not act on acidic amino acids. A D-amino acid + H(2)O + O(2) = a 2-oxo acid + NH(3) + H(2)O(2). FAD. Kinetic parameters: KM=3.6 mM for D-serine; KM=1.7 mM for D-proline; KM=1.1 mM for D-tyrosine; KM=1.5 mM for D-DOPA; KM=1.2 mM for D-phenylalanine; KM=0.9 mM for D-alanine; Homodimer. Peroxisome. Belongs to the DAMOX/DASOX family. D-amino-acid oxidase activity protein binding peroxisome peroxisomal membrane peroxisomal matrix cytosol proline catabolic process protein targeting to peroxisome oxidoreductase activity cellular nitrogen compound metabolic process D-serine catabolic process dopamine biosynthetic process D-amino acid metabolic process protein dimerization activity cofactor binding oxidation-reduction process D-alanine catabolic process D-serine metabolic process FAD binding mitochondrial outer membrane uc001tnr.1 uc001tnr.2 uc001tnr.3 uc001tnr.4 uc001tnr.5 uc001tnr.6 
ENST00000228495.11 KCTD10 ENST00000228495.11 Homo sapiens potassium channel tetramerization domain containing 10 (KCTD10), transcript variant 5, non-coding RNA. (from RefSeq NR_133898) BACD3_HUMAN ENST00000228495.1 ENST00000228495.10 ENST00000228495.2 ENST00000228495.3 ENST00000228495.4 ENST00000228495.5 ENST00000228495.6 ENST00000228495.7 ENST00000228495.8 ENST00000228495.9 MSTP028 NR_133898 Q53HN2 Q59FV1 Q6PL47 Q96SU0 Q9H3F6 ULR061 uc001toi.1 uc001toi.2 uc001toi.3 The protein encoded by this gene binds proliferating cell nuclear antigen (PCNA) and may be involved in DNA synthesis and cell proliferation. In addition, the encoded protein may be a tumor suppressor. Several protein-coding and non-protein coding transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]. Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex. The BCR(BACURD3) E3 ubiquitin ligase complex mediates the ubiquitination of target proteins, leading to their degradation by the proteasome (By similarity). Protein modification; protein ubiquitination. Component of the BCR(BACURD3) E3 ubiquitin ligase complex, at least composed of CUL3, KCTD10/BACURD3 and RBX1. Interacts with DNA polymerase delta subunit 2/POLD2 (By similarity). Interacts with PCNA. Nucleus. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9H3F6-1; Sequence=Displayed; Name=2; IsoId=Q9H3F6-2; Sequence=VSP_019980; Note=No experimental confirmation available; Name=3; IsoId=Q9H3F6-3; Sequence=VSP_019978, VSP_019979; Note=No experimental confirmation available; Belongs to the BACURD family. Contains 1 BTB (POZ) domain. Sequence=BAB55188.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAD92595.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Notch binding protein binding nucleus nucleoplasm cytosol ubiquitin-dependent protein catabolic process protein ubiquitination GTP-Rho binding Cul3-RING ubiquitin ligase complex negative regulation of Rho protein signal transduction proteasome-mediated ubiquitin-dependent protein catabolic process protein homooligomerization ubiquitin-protein transferase activity uc001toi.1 uc001toi.2 uc001toi.3 
ENST00000228506.8 MLEC ENST00000228506.8 Homo sapiens malectin (MLEC), transcript variant 1, mRNA. (from RefSeq NM_014730) ENST00000228506.1 ENST00000228506.2 ENST00000228506.3 ENST00000228506.4 ENST00000228506.5 ENST00000228506.6 ENST00000228506.7 KIAA0152 MLEC_HUMAN NM_014730 Q14165 uc001tyy.1 uc001tyy.2 uc001tyy.3 This gene encodes the carbohydrate-binding protein malectin which is a Type I membrane-anchored endoplasmic reticulum protein. This protein has an affinity for Glc2Man9GlcNAc2 (G2M9) N-glycans and is involved in regulating glycosylation in the endoplasmic reticulum. This protein has also been shown to interact with ribophorin I and may be involved in the directing the degradation of misfolded proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. Carbohydrate-binding protein with a strong ligand preference for Glc2-N-glycan. May play a role in the early steps of protein N-glycosylation (By similarity). Endoplasmic reticulum membrane; Single-pass type I membrane protein (By similarity). Belongs to the malectin family. Sequence=BAA09773.2; Type=Erroneous initiation; endoplasmic reticulum endoplasmic reticulum membrane plasma membrane carbohydrate metabolic process protein folding membrane integral component of membrane enzyme binding carbohydrate binding specific granule membrane neutrophil degranulation uc001tyy.1 uc001tyy.2 uc001tyy.3 
ENST00000228510.8 MVK ENST00000228510.8 Homo sapiens mevalonate kinase (MVK), transcript variant 2, mRNA. (from RefSeq NM_001114185) ENST00000228510.1 ENST00000228510.2 ENST00000228510.3 ENST00000228510.4 ENST00000228510.5 ENST00000228510.6 ENST00000228510.7 KIME_HUMAN NM_001114185 Q03426 uc009zvk.1 uc009zvk.2 uc009zvk.3 uc009zvk.4 uc009zvk.5 This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. May be a regulatory site in cholesterol biosynthetic pathway. ATP + (R)-mevalonate = ADP + (R)-5- phosphomevalonate. Farnesyl- and geranyl-pyrophosphates are competitive inhibitors. Isoprenoid biosynthesis; isopentenyl diphosphate biosynthesis via mevalonate pathway; isopentenyl diphosphate from (R)-mevalonate: step 1/3. Homodimer. Self; NbExp=2; IntAct=EBI-740630, EBI-740630; Cytoplasm. Defects in MVK are the cause of mevalonic aciduria (MEVA) [MIM:610377]. It is an accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia. Defects in MVK are the cause of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]. HIDS is an autosomal recessive disease characterized by recurrent episodes of unexplained high fever associated with skin rash, diarrhea, adenopathy (swollen, tender lymph nodes), athralgias and/or arthritis. Concentration of IgD, and often IgA, are above normal. Belongs to the GHMP kinase family. Mevalonate kinase subfamily. Sequence=CAA53059.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Name=INFEVERS; Note=Repertory of FMF and hereditary autoinflammatory disorders mutations; URL="http://fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=3"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MVK"; nucleotide binding magnesium ion binding mevalonate kinase activity protein binding ATP binding cytoplasm peroxisome cytosol lipid metabolic process steroid biosynthetic process cholesterol biosynthetic process steroid metabolic process cholesterol metabolic process isoprenoid biosynthetic process sterol biosynthetic process kinase activity phosphorylation transferase activity isopentenyl diphosphate biosynthetic process, mevalonate pathway identical protein binding regulation of cholesterol biosynthetic process metal ion binding negative regulation of inflammatory response uc009zvk.1 uc009zvk.2 uc009zvk.3 uc009zvk.4 uc009zvk.5 
ENST00000228515.6 CSRNP2 ENST00000228515.6 Homo sapiens cysteine and serine rich nuclear protein 2 (CSRNP2), transcript variant 2, non-coding RNA. (from RefSeq NR_045072) C12orf22 CSRN2_HUMAN ENST00000228515.1 ENST00000228515.2 ENST00000228515.3 ENST00000228515.4 ENST00000228515.5 FAM130A1 NR_045072 Q9H175 TAIP12 uc001rxu.1 uc001rxu.2 uc001rxu.3 uc001rxu.4 The protein encoded by this gene belongs to the CSRNP family of nuclear proteins that share conserved regions, including cysteine- and serine- rich regions, a basic domain, a transcriptional activation domain, and bind the sequence 'AGAGTG', thus have the hallmark of transcription factors. Studies in mice suggest that these genes may have redundant functions. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]. Binds to the consensus sequence 5'-AGAGTG-3' and has transcriptional activator activity (By similarity). May play a role in apoptosis. P62136:PPP1CA; NbExp=2; IntAct=EBI-5235958, EBI-357253; Nucleus (By similarity). Belongs to the AXUD1 family. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus apoptotic process negative regulation of phosphatase activity phosphatase binding sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter uc001rxu.1 uc001rxu.2 uc001rxu.3 uc001rxu.4 
ENST00000228534.6 IL23A ENST00000228534.6 Homo sapiens interleukin 23 subunit alpha (IL23A), mRNA. (from RefSeq NM_016584) ENST00000228534.1 ENST00000228534.2 ENST00000228534.3 ENST00000228534.4 ENST00000228534.5 IL23A_HUMAN NM_016584 Q6NZ80 Q6NZ82 Q9H2A5 Q9NPF7 SGRF UNQ2498/PRO5798 uc001sla.1 uc001sla.2 uc001sla.3 uc001sla.4 uc001sla.5 This gene encodes a subunit of the heterodimeric cytokine interleukin 23 (IL23). IL23 is composed of this protein and the p40 subunit of interleukin 12 (IL12B). The receptor of IL23 is formed by the beta 1 subunit of IL12 (IL12RB1) and an IL23 specific subunit, IL23R. Both IL23 and IL12 can activate the transcription activator STAT4, and stimulate the production of interferon-gamma (IFNG). In contrast to IL12, which acts mainly on naive CD4(+) T cells, IL23 preferentially acts on memory CD4(+) T cells. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY359083.1, SRR1163658.347730.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000228534.6/ ENSP00000228534.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Associates with IL12B to form the IL-23 interleukin, a heterodimeric cytokine which functions in innate and adaptive immunity. IL-23 may constitute with IL-17 an acute response to infection in peripheral tissues. IL-23 binds to a heterodimeric receptor complex composed of IL12RB1 and IL23R, activates the Jak- Stat signaling cascade, stimulates memory rather than naive T- cells and promotes production of proinflammatory cytokines. IL-23 induces autoimmune inflammation and thus may be responsible for autoimmune inflammatory diseases and may be important for tumorigenesis. Heterodimer with IL12B; disulfide-linked. The heterodimer is known as interleukin IL-23. Secreted. Note=Secreted upon association with IL12B. Secreted by activated dendritic and phagocytic cells and keratinocytes. Also expressed by dermal Langerhans cells (at protein level). Expressed by newborns dendritic cells. Up-regulated by a wide array of pathogens and pathogen- products together with self-signals for danger or injury. Up- regulated in psoriatic dermal tissues, in dendritic cells of multiple sclerosis patients and in tumors. Belongs to the IL-6 superfamily. positive regulation of T cell mediated cytotoxicity positive regulation of defense response to virus by host immune system process positive regulation of T-helper 1 type immune response cytokine activity protein binding extracellular region extracellular space endoplasmic reticulum lumen inflammatory response immune response positive regulation of activation of Janus kinase activity cytokine-mediated signaling pathway negative regulation of interleukin-10 production positive regulation of granulocyte macrophage colony-stimulating factor production positive regulation of interferon-gamma production positive regulation of interleukin-10 production positive regulation of interleukin-12 production positive regulation of interleukin-17 production positive regulation of tumor necrosis factor production positive regulation of natural killer cell activation positive regulation of natural killer cell proliferation positive regulation of tissue remodeling interleukin-23-mediated signaling pathway T cell proliferation positive regulation of T cell proliferation positive regulation of activated T cell proliferation regulation of tyrosine phosphorylation of STAT protein positive regulation of tyrosine phosphorylation of STAT protein positive regulation of memory T cell differentiation innate immune response interleukin-23 receptor binding positive regulation of osteoclast differentiation positive regulation of transcription from RNA polymerase II promoter tissue remodeling positive regulation of inflammatory response defense response to Gram-negative bacterium positive regulation of NK T cell activation positive regulation of NK T cell proliferation defense response to virus interleukin-23 complex positive regulation of neutrophil chemotaxis positive regulation of NIK/NF-kappaB signaling positive regulation of T-helper 17 type immune response positive regulation of T-helper 17 cell lineage commitment uc001sla.1 uc001sla.2 uc001sla.3 uc001sla.4 uc001sla.5 
ENST00000228567.7 SYT10 ENST00000228567.7 Homo sapiens synaptotagmin 10 (SYT10), mRNA. (from RefSeq NM_198992) ENST00000228567.1 ENST00000228567.2 ENST00000228567.3 ENST00000228567.4 ENST00000228567.5 ENST00000228567.6 NM_198992 Q495U2 Q6XYQ8 SYT10_HUMAN uc001rll.1 uc001rll.2 May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis (By similarity). Binds 3 calcium ions per subunit. The ions are bound to the C2 domains (By similarity). Homodimer. Can also form heterodimers with SYT6 (By similarity). Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Single-pass membrane protein (By similarity). Expressed only in pancreas, lung and kidney. Belongs to the synaptotagmin family. Contains 2 C2 domains. SNARE binding phosphatidylserine binding calcium ion binding calcium-dependent phospholipid binding phosphatidylinositol-4,5-bisphosphate binding plasma membrane exocytosis chemical synaptic transmission sensory perception of smell regulation of dopamine secretion membrane integral component of membrane vesicle-mediated transport calcium ion regulated exocytosis regulation of calcium ion-dependent exocytosis syntaxin binding clathrin binding transport vesicle membrane cytoplasmic vesicle identical protein binding protein homodimerization activity positive regulation of calcium ion-dependent exocytosis metal ion binding protein heterodimerization activity exocytic vesicle cellular response to calcium ion presynapse synaptic vesicle exocytosis uc001rll.1 uc001rll.2 
ENST00000228606.9 CYP27B1 ENST00000228606.9 Homo sapiens cytochrome P450 family 27 subfamily B member 1 (CYP27B1), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_000785) CP27B_HUMAN CYP1ALPHA CYP27B ENST00000228606.1 ENST00000228606.2 ENST00000228606.3 ENST00000228606.4 ENST00000228606.5 ENST00000228606.6 ENST00000228606.7 ENST00000228606.8 NM_000785 O15528 uc001spz.1 uc001spz.2 uc001spz.3 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB005038.1, AF020192.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2145774 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000228606.9/ ENSP00000228606.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Catalyzes the conversion of 25-hydroxyvitamin D3 (25(OH)D) to 1-alpha,25-dihydroxyvitamin D3 (1,25(OH)2D) plays an important role in normal bone growth, calcium metabolism, and tissue differentiation. Calcidiol + NADPH + O(2) = calcitriol + NADP(+) + H(2)O. Heme group (By similarity). Hormone biosynthesis; cholecalciferol biosynthesis. Mitochondrion membrane. Kidney. Defects in CYP27B1 are the cause of rickets vitamin D- dependent type 1A (VDDR1A) [MIM:264700]; also known as pseudovitamin D deficiency rickets (PDDR). A disorder caused by a selective deficiency of the active form of vitamin D (1,25- dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. Belongs to the cytochrome P450 family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP27B1"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cyp27b1/"; monooxygenase activity calcidiol 1-monooxygenase activity iron ion binding cytoplasm mitochondrion mitochondrial outer membrane vitamin metabolic process calcium ion transport negative regulation of cell proliferation negative regulation of calcidiol 1-monooxygenase activity positive regulation of vitamin D 24-hydroxylase activity membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen heme binding bone mineralization negative regulation of cell growth regulation of bone mineralization mitochondrial membrane response to lipopolysaccharide response to vitamin D response to interferon-gamma calcitriol biosynthetic process from calciol vitamin D metabolic process vitamin D catabolic process response to estrogen positive regulation of keratinocyte differentiation decidualization metal ion binding calcium ion homeostasis oxidation-reduction process G1 to G0 transition positive regulation of vitamin D receptor signaling pathway uc001spz.1 uc001spz.2 uc001spz.3 
ENST00000228641.4 MYF6 ENST00000228641.4 Homo sapiens myogenic factor 6 (MYF6), mRNA. (from RefSeq NM_002469) B2R898 BHLHC4 ENST00000228641.1 ENST00000228641.2 ENST00000228641.3 MRF4 MYF6_HUMAN NM_002469 P23409 Q53X80 Q6FHI9 uc001szf.1 uc001szf.2 uc001szf.3 uc001szf.4 The protein encoded by this gene is a probable basic helix-loop-helix (bHLH) DNA binding protein involved in muscle differentiation. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of autosomal dominant centronuclear myopathy (ADCNM). [provided by RefSeq, May 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: ERR279860.4145.1, ERR279848.597.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2158800, SAMEA2162946 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000228641.4/ ENSP00000228641.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein. Efficient DNA binding requires dimerization with another bHLH protein. Nucleus. Skeletal muscle. Defects in MYF6 may be a cause of centronuclear myopathy type 3 (CNM3) [MIM:614408]. A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. Contains 1 bHLH (basic helix-loop-helix) domain. nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding somitogenesis DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development muscle organ development skeletal muscle tissue development cell differentiation skeletal muscle cell differentiation muscle cell fate commitment skeletal muscle tissue regeneration positive regulation of myoblast differentiation negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity protein dimerization activity positive regulation of skeletal muscle fiber development positive regulation of muscle cell differentiation muscle tissue morphogenesis RNA polymerase II transcription factor complex positive regulation of myoblast fusion E-box binding uc001szf.1 uc001szf.2 uc001szf.3 uc001szf.4 
ENST00000228644.4 MYF5 ENST00000228644.4 Homo sapiens myogenic factor 5 (MYF5), mRNA. (from RefSeq NM_005593) BHLHC2 ENST00000228644.1 ENST00000228644.2 ENST00000228644.3 MYF5_HUMAN NM_005593 P13349 Q6ISR9 uc001szg.1 uc001szg.2 uc001szg.3 uc001szg.4 Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein. Efficient DNA binding requires dimerization with another bHLH protein. Nucleus. Contains 1 bHLH (basic helix-loop-helix) domain. nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding cartilage condensation ossification somitogenesis regulation of cell-matrix adhesion DNA binding protein binding nucleus nucleoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development muscle organ development skeletal muscle tissue development cell differentiation extracellular matrix organization skeletal muscle cell differentiation muscle cell fate commitment camera-type eye development sequence-specific DNA binding positive regulation of myoblast differentiation positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity protein dimerization activity muscle organ morphogenesis embryonic skeletal system morphogenesis positive regulation of skeletal muscle fiber development positive regulation of muscle cell differentiation muscle tissue morphogenesis RNA polymerase II transcription factor complex positive regulation of myoblast fusion E-box binding uc001szg.1 uc001szg.2 uc001szg.3 uc001szg.4 
ENST00000228682.7 GLI1 ENST00000228682.7 Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA. (from RefSeq NM_005269) D0EUY3 E9PQQ9 ENST00000228682.1 ENST00000228682.2 ENST00000228682.3 ENST00000228682.4 ENST00000228682.5 ENST00000228682.6 GLI GLI1_HUMAN NM_005269 P08151 Q8TDN9 uc001snx.1 uc001snx.2 uc001snx.3 uc001snx.4 uc001snx.5 This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]. Acts as a transcriptional activator. May regulate the transcription of specific genes during normal development. May play a role in craniofacial development and digital development, as well as development of the central nervous system and gastrointestinal tract. Mediates SHH signaling and thus cell proliferation and differentiation. Interacts with KIF7 (By similarity). Interacts with ZIC1; the interaction enhances transcription activation. Q96J02:ITCH; NbExp=4; IntAct=EBI-308084, EBI-1564678; Q9QZS3-2:Numb (xeno); NbExp=4; IntAct=EBI-308084, EBI-3896014; P23443:RPS6KB1; NbExp=4; IntAct=EBI-308084, EBI-1775921; P23443-2:RPS6KB1; NbExp=2; IntAct=EBI-308084, EBI-6093204; Q9UMX1:SUFU; NbExp=5; IntAct=EBI-308084, EBI-740595; Q9UMX1-1:SUFU; NbExp=2; IntAct=EBI-308084, EBI-740615; Q9UMX1-2:SUFU; NbExp=4; IntAct=EBI-308084, EBI-740621; P46684:Zic1 (xeno); NbExp=2; IntAct=EBI-308084, EBI-308006; Cytoplasm. Nucleus. Note=Tethered in the cytoplasm by binding to SUFU. Activation and translocation to the nucleus is promoted by interaction with STK36. Phosphorylation by ULK3 may promote nuclear localization. Translocation to the nucleus is promoted by interaction with ZIC1. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P08151-1; Sequence=Displayed; Name=2; IsoId=P08151-2; Sequence=VSP_042215; Note=Undetectable in normal cells but highly expressed in cancer cells; Testis, myometrium and fallopian tube. Also expressed in the brain with highest expression in the cerebellum, optic nerve and olfactory tract. Amplified in glioblastoma cells. Phosphorylated in vitro by ULK3. Acetylation at Lys-518 down-regulates transcriptional activity. Deacetylated by HDAC1. Belongs to the GLI C2H2-type zinc-finger protein family. Contains 5 C2H2-type zinc fingers. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/GLIID310ch12q13.html"; RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding osteoblast differentiation nucleic acid binding DNA binding chromatin binding protein binding nucleus nucleoplasm cytoplasm cytosol cilium axoneme smoothened signaling pathway multicellular organism development spermatogenesis ventral midline development microtubule binding positive regulation of cell proliferation regulation of smoothened signaling pathway response to wounding epidermal cell differentiation dorsal/ventral pattern formation proximal/distal pattern formation cerebellar cortex morphogenesis smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation pituitary gland development cell differentiation lung development positive regulation of cell migration prostate gland development sequence-specific DNA binding transcription regulatory region DNA binding regulation of osteoblast differentiation positive regulation of DNA replication positive regulation of smoothened signaling pathway positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding digestive tract morphogenesis notochord regression positive regulation of cardiac muscle cell proliferation canonical Wnt signaling pathway negative regulation of canonical Wnt signaling pathway liver regeneration ciliary tip ciliary base positive regulation of cell cycle G1/S phase transition regulation of hepatocyte proliferation uc001snx.1 uc001snx.2 uc001snx.3 uc001snx.4 uc001snx.5 
ENST00000228705.7 PPM1H ENST00000228705.7 Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent 1H (PPM1H), mRNA. (from RefSeq NM_020700) ARHCL1 B1Q2A9 B2RXG4 ENST00000228705.1 ENST00000228705.2 ENST00000228705.3 ENST00000228705.4 ENST00000228705.5 ENST00000228705.6 KIAA1157 NM_020700 PPM1H_HUMAN Q6PI86 Q9ULR3 URCC2 uc001srk.1 uc001srk.2 uc001srk.3 uc001srk.4 uc001srk.5 uc001srk.6 A phosphoprotein + H(2)O = a protein + phosphate. Belongs to the PP2C family. Contains 1 PP2C-like domain. catalytic activity phosphoprotein phosphatase activity protein serine/threonine phosphatase activity magnesium-dependent protein serine/threonine phosphatase activity [pyruvate dehydrogenase (lipoamide)] phosphatase activity nucleus nucleoplasm cytoplasm mitochondrion protein dephosphorylation hydrolase activity synapse glutamatergic synapse positive regulation of pyruvate dehydrogenase activity uc001srk.1 uc001srk.2 uc001srk.3 uc001srk.4 uc001srk.5 uc001srk.6 
ENST00000228740.7 LTA4H ENST00000228740.7 Homo sapiens leukotriene A4 hydrolase (LTA4H), transcript variant 4, non-coding RNA. (from RefSeq NR_132659) B4DNQ9 ENST00000228740.1 ENST00000228740.2 ENST00000228740.3 ENST00000228740.4 ENST00000228740.5 ENST00000228740.6 LKHA4_HUMAN LTA4 NR_132659 P09960 Q6IAT6 Q9UCT7 uc001ten.1 uc001ten.2 uc001ten.3 uc001ten.4 The protein encoded by this gene is an enzyme that contains both hydrolase and aminopeptidase activities. The hydrolase activity is used in the final step of the biosynthesis of leukotriene B4, a proinflammatory mediator. The aminopeptidase activity has been shown to degrade proline-glycine-proline (PGP), a neutrophil chemoattractant and biomarker for chronic obstructive pulmonary disease (COPD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]. Epoxide hydrolase that catalyzes the final step in the biosynthesis of the proinflammatory mediator leukotriene B4. Has also aminopeptidase activity. (7E,9E,11Z,14Z)-(5S,6S)-5,6-epoxyicosa- 7,9,11,14-tetraenoate + H(2)O = (6Z,8E,10E,14Z)-(5S,12R)-5,12- dihydroxyicosa-6,8,10,14-tetraenoate. Binds 1 zinc ion per subunit. Inhibited by bestatin. Subject to suicide inhibition by leukotriene A4, due to the formation of a covalent adduct at Tyr-379. Lipid metabolism; leukotriene B4 biosynthesis. Monomer. P01241:GH1; NbExp=1; IntAct=EBI-721089, EBI-1026046; P23508:MCC; NbExp=1; IntAct=EBI-721089, EBI-307531; Cytoplasm. Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=L-LTA4; IsoId=P09960-1; Sequence=Displayed; Name=2; Synonyms=S-LTA4; IsoId=P09960-2; Sequence=VSP_041108, VSP_041109; Name=3; IsoId=P09960-3; Sequence=VSP_041107, VSP_041108, VSP_041109; Isoform 1 and isoform 2 are expressed in monocytes, lymphocytes, neutrophils, reticulocytes, platelets and fibroblasts. Belongs to the peptidase M1 family. RNA binding aminopeptidase activity epoxide hydrolase activity leukotriene-A4 hydrolase activity protein binding extracellular region nucleus nucleoplasm cytoplasm cytosol proteolysis leukotriene metabolic process peptidase activity metallopeptidase activity zinc ion binding hydrolase activity leukotriene biosynthetic process long-chain fatty acid biosynthetic process peptide catabolic process neutrophil degranulation cellular lipid metabolic process cellular protein metabolic process metal ion binding metalloaminopeptidase activity extracellular exosome tertiary granule lumen ficolin-1-rich granule lumen uc001ten.1 uc001ten.2 uc001ten.3 uc001ten.4 
ENST00000228741.8 ELK3 ENST00000228741.8 Homo sapiens ETS transcription factor ELK3 (ELK3), transcript variant 1, mRNA. (from RefSeq NM_005230) B2R6S6 ELK3_HUMAN ENST00000228741.1 ENST00000228741.2 ENST00000228741.3 ENST00000228741.4 ENST00000228741.5 ENST00000228741.6 ENST00000228741.7 NET NM_005230 P41970 Q6FG57 Q6GU29 Q9UD17 SAP2 uc001teo.1 uc001teo.2 uc001teo.3 This gene encodes a member of the ETS-domain transcription factor family and the ternary complex factor (TCF) subfamily. Proteins in this subfamily regulate transcription when recruited by serum response factor to bind to serum response elements. This protein is activated by signal-induced phosphorylation; studies in rodents suggest that it is a transcriptional inhibitor in the absence of Ras, but activates transcription when Ras is present. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. May be a negative regulator of transcription, but can activate transcription when coexpressed with Ras, Src or Mos. Forms a ternary complex with the serum response factor and the ETS and SRF motifs of the Fos serum response element. Interacts with CTBP1. P16333:NCK1; NbExp=3; IntAct=EBI-1758534, EBI-389883; Nucleus. Belongs to the ETS family. Contains 1 ETS DNA-binding domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding angiogenesis DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm mitochondrion regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter signal transduction cell differentiation purine-rich negative regulatory element binding wound healing sequence-specific DNA binding negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter uc001teo.1 uc001teo.2 uc001teo.3 
ENST00000228799.7 ITFG2 ENST00000228799.7 Homo sapiens integrin alpha FG-GAP repeat containing 2 (ITFG2), transcript variant 1, mRNA. (from RefSeq NM_018463) A8K4Z5 D3DUQ2 ENST00000228799.1 ENST00000228799.2 ENST00000228799.3 ENST00000228799.4 ENST00000228799.5 ENST00000228799.6 ITFG2_HUMAN NM_018463 Q969R8 Q96SX6 uc001qlb.1 uc001qlb.2 uc001qlb.3 uc001qlb.4 Contains 2 FG-GAP repeats. germinal center B cell differentiation nucleoplasm lysosome lysosomal membrane cytosol membrane cellular response to amino acid starvation cellular response to glucose starvation negative regulation of TORC1 signaling uc001qlb.1 uc001qlb.2 uc001qlb.3 uc001qlb.4 
ENST00000228811.8 PRR4 ENST00000228811.8 Homo sapiens proline rich 4 (PRR4), transcript variant 2, mRNA. (from RefSeq NM_007244) A8KA69 ENST00000228811.1 ENST00000228811.2 ENST00000228811.3 ENST00000228811.4 ENST00000228811.5 ENST00000228811.6 ENST00000228811.7 LPRP NM_007244 PROL4 PROL4_HUMAN Q16378 Q8NFB3 uc001qyz.1 uc001qyz.2 uc001qyz.3 uc001qyz.4 uc001qyz.5 This gene encodes a member of the proline-rich protein family that lacks a conserved repetitive domain. This protein may play a role in protective functions in the eye. Alternative splicing result in multiple transcript variants. Read-through transcription also exists between this gene and the upstream PRH1 (proline-rich protein HaeIII subfamily 1) gene. [provided by RefSeq, Feb 2011]. Secreted. Abundantly expressed in lacrimal gland where it is found in the acinar cells but not in the intralobular ducts. Also found in the submandibular gland, the parotid and sublingual glands. retina homeostasis extracellular region extracellular space visual perception uc001qyz.1 uc001qyz.2 uc001qyz.3 uc001qyz.4 uc001qyz.5 
ENST00000228820.9 PARP11 ENST00000228820.9 Homo sapiens poly(ADP-ribose) polymerase family member 11 (PARP11), transcript variant 4, non-coding RNA. (from RefSeq NR_104461) B4DRQ0 C12orf6 ENST00000228820.1 ENST00000228820.2 ENST00000228820.3 ENST00000228820.4 ENST00000228820.5 ENST00000228820.6 ENST00000228820.7 ENST00000228820.8 NR_104461 PAR11_HUMAN Q68DS1 Q8N5Y9 Q9NR21 uc001qml.1 uc001qml.2 uc001qml.3 uc001qml.4 uc001qml.5 NAD(+) + (ADP-D-ribosyl)(n)-acceptor = nicotinamide + (ADP-D-ribosyl)(n+1)-acceptor. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NR21-1; Sequence=Displayed; Name=2; IsoId=Q9NR21-2; Sequence=VSP_022553, VSP_022554; Name=3; IsoId=Q9NR21-4; Sequence=VSP_040378; Contains 1 PARP catalytic domain. Contains 1 WWE domain. Sequence=AAH17569.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH31073.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; NAD+ ADP-ribosyltransferase activity nucleus nuclear envelope nuclear pore nuclear envelope organization spermatogenesis protein transport transferase activity transferase activity, transferring glycosyl groups cell differentiation mRNA transport protein auto-ADP-ribosylation protein ADP-ribosylase activity uc001qml.1 uc001qml.2 uc001qml.3 uc001qml.4 uc001qml.5 
ENST00000228825.12 ARPC3 ENST00000228825.12 Homo sapiens actin related protein 2/3 complex subunit 3 (ARPC3), transcript variant 2, mRNA. (from RefSeq NM_001287222) ARC21 ARPC3_HUMAN ENST00000228825.1 ENST00000228825.10 ENST00000228825.11 ENST00000228825.2 ENST00000228825.3 ENST00000228825.4 ENST00000228825.5 ENST00000228825.6 ENST00000228825.7 ENST00000228825.8 ENST00000228825.9 NM_001287222 O00554 O15145 uc001tqq.1 uc001tqq.2 uc001tqq.3 uc001tqq.4 uc001tqq.5 uc001tqq.6 This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been conserved through evolution and is implicated in the control of actin polymerization in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]. Functions as component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks. Component of the Arp2/3 complex composed of ARP2, ARP3, ARPC1B/p41-ARC, ARPC2/p34-ARC, ARPC3/p21-ARC, ARPC4/p20-ARC and ARPC5/p16-ARC. Cytoplasm, cytoskeleton. Cell projection. Belongs to the ARPC3 family. actin binding structural constituent of cytoskeleton protein binding nucleus cytoplasm cytosol cytoskeleton Arp2/3 protein complex focal adhesion actin cytoskeleton membrane lamellipodium regulation of actin filament polymerization cell leading edge filamentous actin Arp2/3 complex-mediated actin nucleation site of double-strand break Fc-gamma receptor signaling pathway involved in phagocytosis cell projection ephrin receptor signaling pathway membrane organization extracellular exosome actin polymerization-dependent cell motility cellular response to nerve growth factor stimulus actin filament binding uc001tqq.1 uc001tqq.2 uc001tqq.3 uc001tqq.4 uc001tqq.5 uc001tqq.6 
ENST00000228827.8 GPN3 ENST00000228827.8 Homo sapiens GPN-loop GTPase 3 (GPN3), transcript variant 1, mRNA. (from RefSeq NM_016301) AD-009 ATPBD1C B2RC54 D4YWV1 ENST00000228827.1 ENST00000228827.2 ENST00000228827.3 ENST00000228827.4 ENST00000228827.5 ENST00000228827.6 ENST00000228827.7 GPN3_HUMAN NM_016301 Q53FS3 Q6UVZ6 Q7Z3D3 Q8NEI2 Q96HK9 Q9UHW5 UNQ1876/PRO4319 uc001tqr.1 uc001tqr.2 uc001tqr.3 uc001tqr.4 uc001tqr.5 Homodimer. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UHW5-1; Sequence=Displayed; Name=2; IsoId=Q9UHW5-2; Sequence=VSP_028125; Belongs to the GPN-loop GTPase family. Sequence=CAD97937.1; Type=Erroneous initiation; nucleotide binding GTPase activity protein binding GTP binding hydrolase activity macromolecular complex uc001tqr.1 uc001tqr.2 uc001tqr.3 uc001tqr.4 uc001tqr.5 
ENST00000228837.3 FGF6 ENST00000228837.3 Homo sapiens fibroblast growth factor 6 (FGF6), mRNA. (from RefSeq NM_020996) ENST00000228837.1 ENST00000228837.2 FGF6_HUMAN HST2 HSTF2 NM_020996 P10767 Q0VAE1 uc001qmr.1 uc001qmr.2 uc001qmr.3 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene displayed oncogenic transforming activity when transfected into mammalian cells. The mouse homolog of this gene exhibits a restricted expression profile predominantly in the myogenic lineage, which suggested a role in muscle regeneration or differentiation. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X63454.1, BC121097.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2158800, SAMN03465413 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Plays an important role in the regulation of cell proliferation, cell differentiation, angiogenesis and myogenesis, and is required for normal muscle regeneration. Interacts with FGFR1, FGFR2 and FGFR4. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors. Secreted, extracellular space. Leukemia cell lines with platelet/ megakaryocytic differentiation potential. Belongs to the heparin-binding growth factors family. Sequence=CAA40359.1; Type=Erroneous initiation; Sequence=CAA40360.1; Type=Erroneous initiation; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/fgf6/"; MAPK cascade cartilage condensation angiogenesis extracellular region extracellular space multicellular organism development growth factor activity positive regulation of cell proliferation fibroblast growth factor receptor signaling pathway cell differentiation sarcolemma myoblast differentiation positive regulation of cell division positive regulation of protein kinase B signaling uc001qmr.1 uc001qmr.2 uc001qmr.3 
ENST00000228841.15 MYL2 ENST00000228841.15 Homo sapiens myosin light chain 2 (MYL2), mRNA. (from RefSeq NM_000432) ENST00000228841.1 ENST00000228841.10 ENST00000228841.11 ENST00000228841.12 ENST00000228841.13 ENST00000228841.14 ENST00000228841.2 ENST00000228841.3 ENST00000228841.4 ENST00000228841.5 ENST00000228841.6 ENST00000228841.7 ENST00000228841.8 ENST00000228841.9 NM_000432 Q6IB42 Q6IB42_HUMAN hCG_40212 uc001try.1 uc001try.2 uc001try.3 uc001try.4 uc001try.5 uc001try.6 uc001try.7 Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC031008.1, BU193625.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000228841.15/ ENSP00000228841.8 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## heart morphogenesis calcium ion binding heart development post-embryonic development myofibril muscle cell fate specification muscle fiber development cardiac myofibril assembly heart contraction cardiac muscle contraction positive regulation of the force of heart contraction uc001try.1 uc001try.2 uc001try.3 uc001try.4 uc001try.5 uc001try.6 uc001try.7 
ENST00000228865.3 CREBL2 ENST00000228865.3 Homo sapiens cAMP responsive element binding protein like 2 (CREBL2), mRNA. (from RefSeq NM_001310) B5BUM5 CRBL2_HUMAN ENST00000228865.1 ENST00000228865.2 NM_001310 O60519 uc001rap.1 uc001rap.2 uc001rap.3 uc001rap.4 cAMP response element (CRE)-binding protein-like-2 (CREBL2) was identified in a search to find genes in a commonly deleted region on chromosome 12p13 flanked by ETV6 and CDKN1B genes, frequently associated with hematopoietic malignancies, as well as breast, non-small-cell lung and ovarian cancers. CREBL2 shares a 41% identity with CRE-binding protein (CREB) over a 48-base long region which encodes the bZip domain of CREB. The bZip domain consists of about 30 amino acids rich in basic residues involved in DNA binding, followed by a leucine zipper motif involved in protein dimerization. This suggests that CREBL2 encodes a protein with DNA binding capabilities. The occurance of CREBL2 deletion in malignancy suggests that CREBL2 may act as a tumor suppressor gene. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BC106052.1, AF039081.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000228865.3/ ENSP00000228865.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Probable regulator of CREB1 transcriptional activity which is involved in adipose cells differentiation. May also play a regulatory role in the cell cycle. Identification in a chromosomal region frequently deleted in various cancers suggests that it might act as a tumor suppressor. Interacts with CREB1; regulates CREB1 phosphorylation, stability and transcriptional activity (By similarity). Nucleus (By similarity). Phosphorylated by AMPK. Belongs to the bZIP family. ATF subfamily. Contains 1 bZIP (basic-leucine zipper) domain. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus transcription, DNA-templated regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter cell cycle signal transduction cell differentiation positive regulation of peptidyl-serine phosphorylation positive regulation of fat cell differentiation positive regulation of transcription, DNA-templated positive regulation of glucose import positive regulation of lipid biosynthetic process protein stabilization uc001rap.1 uc001rap.2 uc001rap.3 uc001rap.4 
ENST00000228887.6 GPRC5D ENST00000228887.6 Homo sapiens G protein-coupled receptor class C group 5 member D (GPRC5D), mRNA. (from RefSeq NM_018654) ENST00000228887.1 ENST00000228887.2 ENST00000228887.3 ENST00000228887.4 ENST00000228887.5 GPC5D_HUMAN NM_018654 Q3KNV3 Q7Z5J9 Q8TDS6 Q9NZD1 uc010shp.1 uc010shp.2 uc010shp.3 The protein encoded by this gene is a member of the G protein-coupled receptor family; however, the specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BC069341.1, AF209923.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2144120 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## Cell membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NZD1-1; Sequence=Displayed; Name=2; IsoId=Q9NZD1-2; Sequence=VSP_010006, VSP_010007; Name=3; IsoId=Q9NZD1-3; Sequence=VSP_010008; Widely expressed in the peripheral system. Expression pattern is high in pancreas, medium in kidney, small intestine, spleen and testis, low in lung, colon, leukocyte, prostate and thymus and not detectable in brain, heart, liver, placenta, skeletal muscle and ovary. Belongs to the G-protein coupled receptor 3 family. G-protein coupled receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway membrane integral component of membrane protein kinase activator activity activation of protein kinase activity intracellular membrane-bounded organelle receptor complex extracellular exosome uc010shp.1 uc010shp.2 uc010shp.3 
ENST00000228916.7 SCNN1A ENST00000228916.7 Homo sapiens sodium channel epithelial 1 subunit alpha (SCNN1A), transcript variant 1, mRNA. (from RefSeq NM_001038) A5X2U9 B4E2Q5 C5HTZ0 ENST00000228916.1 ENST00000228916.2 ENST00000228916.3 ENST00000228916.4 ENST00000228916.5 ENST00000228916.6 NM_001038 O43271 P37088 Q6GSQ6 Q9UM64 SCNN1 SCNNA_HUMAN uc001qnx.1 uc001qnx.2 uc001qnx.3 uc001qnx.4 uc001qnx.5 Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]. Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception. Activated by WNK1, WNK2, WNK3 and WNK4 (By similarity). Probable heterotrimer containing one alpha, one beta and one gamma subunit. A delta subunit can replace the alpha subunit. Interacts with the WW domains of NEDD4, NEDD4L, WWP1 and WWP2. Interacts with the full length immature form of PCSK9 (pro-PCSK9). Apical cell membrane; Multi-pass membrane protein. Note=Apical membrane of epithelial cells. Event=Alternative splicing; Named isoforms=6; Name=1; Synonyms=Alpha ENAC1; IsoId=P37088-1; Sequence=Displayed; Name=2; Synonyms=Alpha ENAC2; IsoId=P37088-2; Sequence=VSP_007719; Name=3; Synonyms=Alpha ENACx; IsoId=P37088-3; Sequence=VSP_007720, VSP_007721; Note=Does not give rise to amiloride-sensitive ion current; Name=4; Synonyms=Alpha ENAC-19; IsoId=P37088-4; Sequence=VSP_007722; Note=Amiloride-sensitive ion current is nearly abolished; Name=5; Synonyms=Alpha ENAC+22; IsoId=P37088-5; Sequence=VSP_007723; Note=Does not give rise to amiloride-sensitive ion current; Name=6; IsoId=P37088-6; Sequence=VSP_043667; Note=No experimental confirmation available; Highly expressed in kidney and lung. Detected at intermediate levels in pancreas and liver, and at low levels in heart and placenta. Isoform 1 and isoform 2 predominate in all tissues. Expression of isoform 3, isoform 4 and isoform 5 is very low or not detectable, except in lung and heart. By aldosterone. Ubiquitinated; this targets individual subunits for endocytosis and proteasome-mediated degradation (By similarity). ENaC cleavage by furin, and subsequently by prostasin (PRSS8), leads to a stepwise increase in the open probability of the channel as a result of release of the alpha and gamma subunit inhibitory tracts, respectively. Defects in SCNN1A are a cause of pseudohypoaldosteronism 1, autosomal recessive (PHA1B) [MIM:264350]. A rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1B is a severe form involving multiple organ systems, and characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss. Note=The degree of channel function impairment differentially affects the renin-aldosterone system and urinary Na/K ratios, resulting in distinct genotype-phenotype relationships in PHA1 patients. Loss-of-function mutations are associated with a severe clinical course and age-dependent hyperactivation of the renin-aldosterone system. This feature is not observed in patients with missense mutations that reduce but do not eliminate channel function. Markedly reduced channel activity results in impaired linear growth and delayed puberty (PubMed:18634878). Defects in SCNN1A are a cause of bronchiectasis with or without elevated sweat chloride type 2 (BESC2) [MIM:613021]; also called cystic fibrosis-like syndrome. BESC2 is a debilitating respiratory disease characterized by chronic abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include subnormal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases. Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1A subfamily. Sequence=AAH06526.2; Type=Erroneous initiation; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SCNN1A"; acrosomal vesicle sodium channel activity protein binding cytoplasm plasma membrane integral component of plasma membrane cilium ion transport sodium ion transport ligand-gated sodium channel activity membrane integral component of membrane apical plasma membrane cytoplasmic vesicle motile cilium ion transmembrane transport sodium channel complex sodium ion transmembrane transport cell projection WW domain binding multicellular organismal water homeostasis response to stimulus sensory perception of taste sodium ion homeostasis ciliary membrane extracellular exosome sperm principal piece uc001qnx.1 uc001qnx.2 uc001qnx.3 uc001qnx.4 uc001qnx.5 
ENST00000228918.9 LTBR ENST00000228918.9 Homo sapiens lymphotoxin beta receptor (LTBR), transcript variant 1, mRNA. (from RefSeq NM_002342) D12S370 D3DUR2 ENST00000228918.1 ENST00000228918.2 ENST00000228918.3 ENST00000228918.4 ENST00000228918.5 ENST00000228918.6 ENST00000228918.7 ENST00000228918.8 NM_002342 P36941 TNFCR TNFR3 TNFRSF3 TNR3_HUMAN uc001qny.1 uc001qny.2 uc001qny.3 uc001qny.4 This gene encodes a member of the tumor necrosis factor receptor superfamily. The major ligands of this receptor include lymphotoxin alpha/beta and tumor necrosis factor ligand superfamily member 14. The encoded protein plays a role in signalling during the development of lymphoid and other organs, lipid metabolism, immune response, and programmed cell death. Activity of this receptor has also been linked to carcinogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2012]. Receptor for the heterotrimeric lymphotoxin containing LTA and LTB, and for TNFS14/LIGHT. Promotes apoptosis via TRAF3 and TRAF5. May play a role in the development of lymphoid organs. Self-associates. Associates with TRAF3, TRAF4 and TRAF5. Interacts with HCV core protein. Self; NbExp=2; IntAct=EBI-3509981, EBI-3509981; Q15326:ZMYND11; NbExp=5; IntAct=EBI-3509981, EBI-2799565; Membrane; Single-pass type I membrane protein. Contains 4 TNFR-Cys repeats. protein binding Golgi apparatus plasma membrane apoptotic process immune response signal transduction membrane integral component of membrane viral process ubiquitin protein ligase binding tumor necrosis factor-mediated signaling pathway identical protein binding myeloid dendritic cell differentiation positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of JNK cascade hematopoietic or lymphoid organ development cellular response to mechanical stimulus positive regulation of extrinsic apoptotic signaling pathway uc001qny.1 uc001qny.2 uc001qny.3 uc001qny.4 
ENST00000228922.12 OGFOD2 ENST00000228922.12 Homo sapiens 2-oxoglutarate and iron dependent oxygenase domain containing 2 (OGFOD2), transcript variant 1, mRNA. (from RefSeq NM_001304833) B3KT24 ENST00000228922.1 ENST00000228922.10 ENST00000228922.11 ENST00000228922.2 ENST00000228922.3 ENST00000228922.4 ENST00000228922.5 ENST00000228922.6 ENST00000228922.7 ENST00000228922.8 ENST00000228922.9 NM_001304833 OGFD2_HUMAN Q4KN13 Q6N023 Q6N063 Q9H8K6 uc001uea.1 uc001uea.2 uc001uea.3 Binds 1 Fe(2+) ion per subunit (By similarity). Ascorbate (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q6N063-1; Sequence=Displayed; Name=2; IsoId=Q6N063-2; Sequence=VSP_025856, VSP_025857; Name=3; IsoId=Q6N063-3; Sequence=VSP_025858, VSP_025859; Note=No experimental confirmation available; Name=4; IsoId=Q6N063-4; Sequence=VSP_025855; Belongs to the OGFOD2 family. Contains 1 Fe2OG dioxygenase domain. Sequence=CAE45849.1; Type=Erroneous translation; Note=Wrong choice of frame; Sequence=CAE45849.1; Type=Frameshift; Positions=104; iron ion binding oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen L-ascorbic acid binding metal ion binding dioxygenase activity oxidation-reduction process uc001uea.1 uc001uea.2 uc001uea.3 
ENST00000228928.12 OAS3 ENST00000228928.12 Homo sapiens 2'-5'-oligoadenylate synthetase 3 (OAS3), mRNA. (from RefSeq NM_006187) ENST00000228928.1 ENST00000228928.10 ENST00000228928.11 ENST00000228928.2 ENST00000228928.3 ENST00000228928.4 ENST00000228928.5 ENST00000228928.6 ENST00000228928.7 ENST00000228928.8 ENST00000228928.9 NM_006187 OAS3_HUMAN P/OKcl.4 Q2HJ14 Q9H3P5 Q9Y6K5 uc001tug.1 uc001tug.2 uc001tug.3 uc001tug.4 uc001tug.5 This gene encodes an enzyme included in the 2', 5' oligoadenylate synthase family. This enzyme is induced by interferons and catalyzes the 2', 5' oligomers of adenosine in order to bind and activate RNase L. This enzyme family plays a significant role in the inhibition of cellular protein synthesis and viral infection resistance. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB044545.1, AF063613.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000228928.12/ ENSP00000228928.7 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Interferon-induced, dsRNA-activated antiviral enzyme which plays a critical role in cellular innate antiviral response. In addition, it may also play a role in other cellular processes such as apoptosis, cell growth, differentiation and gene regulation. Synthesizes preferentially dimers of 2'-5'- oligoadenylates (2-5A) from ATP which then bind to the inactive monomeric form of ribonuclease L (RNase L) leading to its dimerization and subsequent activation. Activation of RNase L leads to degradation of cellular as well as viral RNA, resulting in the inhibition of protein synthesis, thus terminating viral replication. Can mediate the antiviral effect via the classical RNase L-dependent pathway or an alternative antiviral pathway independent of RNase L. Displays antiviral activity against Chikungunya virus (CHIKV), Dengue virus, Sindbis virus (SINV) and Semliki forest virus (SFV). Binds double-stranded RNA and polymerizes ATP into PPP(A2'P5'A)N oligomers, which activate the latent RNase L that, when activated, cleaves single-stranded RNAs. Magnesium (Potential). Produced as a latent enzyme which is activated by dsRNA generated during the course of viral infection. The dsRNA activator must be at least 15 nucleotides long, and no modification of the 2'-hydroxyl group is tolerated. ssRNA or dsDNA do not act as activators. Monomer. Q7L2E3:DHX30; NbExp=2; IntAct=EBI-6115729, EBI-1211456; P56537:EIF6; NbExp=2; IntAct=EBI-6115729, EBI-372243; Q8IY81:FTSJ3; NbExp=2; IntAct=EBI-6115729, EBI-744088; Q12894:IFRD2; NbExp=2; IntAct=EBI-6115729, EBI-6115935; Q7Z434:MAVS; NbExp=2; IntAct=EBI-6115729, EBI-995373; Cytoplasm. Nucleus. Present at high level in placenta trophoblast. By type I interferon (IFN) and viruses. Belongs to the 2-5A synthase family. Sequence=AAD28543.1; Type=Frameshift; Positions=394, 398; nucleotide binding 2'-5'-oligoadenylate synthetase activity immune system process RNA binding double-stranded RNA binding protein binding ATP binding extracellular space nucleus nucleoplasm cytoplasm cytosol plasma membrane nucleobase-containing compound metabolic process immune response response to virus transferase activity nucleotidyltransferase activity intracellular membrane-bounded organelle negative regulation of viral genome replication innate immune response metal ion binding defense response to virus interferon-gamma-mediated signaling pathway type I interferon signaling pathway regulation of ribonuclease activity uc001tug.1 uc001tug.2 uc001tug.3 uc001tug.4 uc001tug.5 
ENST00000228936.6 ART4 ENST00000228936.6 Homo sapiens ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) (ART4), transcript variant 1, mRNA. (from RefSeq NM_021071) DO DOK1 ENST00000228936.1 ENST00000228936.2 ENST00000228936.3 ENST00000228936.4 ENST00000228936.5 NAR4_HUMAN NM_021071 Q93070 Q9BZ50 Q9BZ51 Q9HB06 uc001rcl.1 uc001rcl.2 uc001rcl.3 uc001rcl.4 This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK291662.1, AY829434.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA2142363 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000228936.6/ ENSP00000228936.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## NAD(+) + protein-L-arginine = nicotinamide + N(omega)-(ADP-D-ribosyl)-protein-L-arginine. NADP(+) + protein-L-arginine = nicotinamide + N(omega)-((2'-phospho-ADP)-D-ribosyl)-protein-L-arginine. Cell membrane; Lipid-anchor, GPI-anchor. Expressed in spleen and T-cells. DO is responsible for the Dombrock blood group system. The molecular basis of the Do(a)/Do(b) blood group antigen is a single variation in position 265; Asn-265 corresponds to Do(a) and Asp-265 to Do(b). It is also responsible for the antigens Gregory [Gy(a)], Holley [Hy] and Joseph [Jo(a)]. Belongs to the Arg-specific ADP-ribosyltransferase family. Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=dombrock"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/do/"; NAD+ ADP-ribosyltransferase activity NAD(P)+-protein-arginine ADP-ribosyltransferase activity extracellular region plasma membrane protein ADP-ribosylation arginine metabolic process membrane transferase activity transferase activity, transferring glycosyl groups peptidyl-arginine ADP-ribosylation anchored component of membrane uc001rcl.1 uc001rcl.2 uc001rcl.3 uc001rcl.4 
ENST00000228945.9 ARHGDIB ENST00000228945.9 Homo sapiens Rho GDP dissociation inhibitor beta (ARHGDIB), transcript variant 3, mRNA. (from RefSeq NM_001321421) B5BU79 ENST00000228945.1 ENST00000228945.2 ENST00000228945.3 ENST00000228945.4 ENST00000228945.5 ENST00000228945.6 ENST00000228945.7 ENST00000228945.8 GDIA2 GDID4 GDIR2_HUMAN NM_001321421 P52566 RAP1GN1 uc001rcq.1 uc001rcq.2 uc001rcq.3 Members of the Rho (or ARH) protein family (see MIM 165390) and other Ras-related small GTP-binding proteins (see MIM 179520) are involved in diverse cellular events, including cell signaling, proliferation, cytoskeletal organization, and secretion. The GTP-binding proteins are active only in the GTP-bound state. At least 3 classes of proteins tightly regulate cycling between the GTP-bound and GDP-bound states: GTPase-activating proteins (GAPs), guanine nucleotide-releasing factors (GRFs), and GDP-dissociation inhibitors (GDIs). The GDIs, including ARHGDIB, decrease the rate of GDP dissociation from Ras-like GTPases (summary by Scherle et al., 1993 [PubMed 8356058]).[supplied by OMIM, Dec 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DRR138524.471636.1, SRR1163658.204622.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## Regulates the GDP/GTP exchange reaction of the Rho proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Cytoplasm. Belongs to the Rho GDI family. GTPase activity Rho GDP-dissociation inhibitor activity GTPase activator activity protein binding cytoplasm cytosol cytoskeleton negative regulation of cell adhesion Rho protein signal transduction multicellular organism development membrane cytoplasmic vesicle regulation of Rho protein signal transduction positive regulation of GTPase activity Rac GTPase binding regulation of catalytic activity regulation of small GTPase mediated signal transduction extracellular exosome cellular response to redox state negative regulation of trophoblast cell migration regulation of actin cytoskeleton reorganization uc001rcq.1 uc001rcq.2 uc001rcq.3 
ENST00000229030.5 FZD10 ENST00000229030.5 Homo sapiens frizzled class receptor 10 (FZD10), mRNA. (from RefSeq NM_007197) ENST00000229030.1 ENST00000229030.2 ENST00000229030.3 ENST00000229030.4 FZD10_HUMAN NM_007197 Q9ULW2 uc001uii.1 uc001uii.2 uc001uii.3 uc001uii.4 uc001uii.5 This gene is a member of the frizzled gene family. Members of this family encode 7-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. Using array analysis, expression of this intronless gene is significantly up-regulated in two cases of primary colon cancer. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC070037.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Cell membrane; Multi-pass membrane protein (By similarity). Highest levels in the placenta and fetal kidney, followed by fetal lung and brain. In adult brain, abundantly expressed in the cerebellum, followed by cerebral cortex, medulla and spinal cord; very low levels in total brain, frontal lobe, temporal lobe and putamen. Weak expression detected in adult brain, heart, lung, skeletal muscle, pancreas, spleen and prostate. Lys-Thr-X-X-X-Trp motif interacts with the PDZ doman of Dvl (Disheveled) family members and is involved in the activation of the Wnt/beta-catenin signaling pathway (By similarity). The FZ domain is involved in binding with Wnt ligands (By similarity). Ubiquitinated by ZNRF3, leading to its degradation by the proteasome (By similarity). Belongs to the G-protein coupled receptor Fz/Smo family. Contains 1 FZ (frizzled) domain. transmembrane signaling receptor activity G-protein coupled receptor activity protein binding nucleoplasm cytoplasm plasma membrane integral component of plasma membrane signal transduction cell surface receptor signaling pathway G-protein coupled receptor signaling pathway multicellular organism development cell surface membrane integral component of membrane Wnt signaling pathway Wnt-protein binding neuron differentiation regulation of actin cytoskeleton organization negative regulation of GTPase activity non-canonical Wnt signaling pathway non-canonical Wnt signaling pathway via JNK cascade Wnt-activated receptor activity positive regulation of JUN kinase activity positive regulation of GTPase activity canonical Wnt signaling pathway cellular response to retinoic acid uc001uii.1 uc001uii.2 uc001uii.3 uc001uii.4 uc001uii.5 
ENST00000229134.5 IL26 ENST00000229134.5 Homo sapiens interleukin 26 (IL26), mRNA. (from RefSeq NM_018402) AK155 ENST00000229134.1 ENST00000229134.2 ENST00000229134.3 ENST00000229134.4 IL26_HUMAN NM_018402 Q9NPH9 uc001stx.1 uc001stx.2 uc001stx.3 This gene was identified by its overexpression specifically in herpesvirus samimiri-transformed T cells. The encoded protein is a member of the IL10 family of cytokines. It is a secreted protein and may function as a homodimer. This protein is thought to contribute to the transformed phenotype of T cells after infection by herpesvirus samimiri. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AJ251549.1, CF271979.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA2142586 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000229134.5/ ENSP00000229134.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May play a role in local mechanisms of mucosal immunity and seems to have a proinflammatory function. May play a role in inflammatory bowel disease. Activates STAT1 and STAT3, MAPK1/3 (ERK1/2), JUN and AKT. Induces expression of SOCS3, TNF-alpha and IL-8, secretion of IL-8 and IL-10 and surface expression of ICAM1. Decreases proliferation of intestinal epithelial cells. Is inhibited by heparin. Homodimer. Secreted. Expressed in HVS transformed T-cells but not other T-cell lines or primary stimulated T-cells. Expressed in colonic T-cells including Th17 inflammatory T-cells; the expression is significantly increased in serum of patients with Crohn's disease (at protein level). By Herpesvirus saimiri infection. Belongs to the IL-10 family. Name=Wikipedia; Note=Interleukin-26 entry; URL="http://en.wikipedia.org/wiki/Interleukin_26"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il26/"; cytokine activity extracellular region extracellular space cytosol cell-cell signaling cytokine-mediated signaling pathway positive regulation of stress-activated MAPK cascade positive regulation of transcription from RNA polymerase II promoter positive regulation of JAK-STAT cascade negative regulation of epithelial cell proliferation positive regulation of cytokine secretion positive regulation of protein kinase B signaling positive regulation of ERK1 and ERK2 cascade uc001stx.1 uc001stx.2 uc001stx.3 
ENST00000229135.4 IFNG ENST00000229135.4 Homo sapiens interferon gamma (IFNG), mRNA. (from RefSeq NM_000619) B5BU88 ENST00000229135.1 ENST00000229135.2 ENST00000229135.3 IFNG_HUMAN NM_000619 P01579 Q53ZV4 uc001stw.1 uc001stw.2 uc001stw.3 This gene encodes a soluble cytokine that is a member of the type II interferon class. The encoded protein is secreted by cells of both the innate and adaptive immune systems. The active protein is a homodimer that binds to the interferon gamma receptor which triggers a cellular response to viral and microbial infections. Mutations in this gene are associated with an increased susceptibility to viral, bacterial and parasitic infections and to several autoimmune diseases. [provided by RefSeq, Dec 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC070256.1, SRR1163655.241293.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2154529 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000229135.4/ ENSP00000229135.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Produced by lymphocytes activated by specific antigens or mitogens. IFN-gamma, in addition to having antiviral activity, has important immunoregulatory functions. It is a potent activator of macrophages, it has antiproliferative effects on transformed cells and it can potentiate the antiviral and antitumor effects of the type I interferons. Homodimer. Secreted. Released primarily from activated T lymphocytes. Proteolytic processing produces C-terminal heterogeneity, with proteins ending alternatively at Gly-150, Met-157 or Gly-161. In Caucasians, genetic variation in IFNG is associated with the risk of aplastic anemia (AA) [MIM:609135]. AA is a rare disease in which the reduction of the circulating blood cells results from damage to the stem cell pool in bone marrow. In most patients, the stem cell lesion is caused by an autoimmune attack. T-lymphocytes, activated by an endogenous or exogenous, and most often unknown antigenic stimulus, secrete cytokines, including IFN-gamma, which would in turn be able to suppress hematopoiesis. Available under the name Actimmune (Genentech). Used for reducing the frequency and severity of serious infections associated with chronic granulomatous disease (CGD). Belongs to the type II (or gamma) interferon family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IFNG"; Name=Wikipedia; Note=Interferon gamma entry; URL="http://en.wikipedia.org/wiki/Interferon_gamma"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/ifng/"; negative regulation of transcription from RNA polymerase II promoter microglial cell activation positive regulation of protein phosphorylation adaptive immune response cytokine activity interferon-gamma receptor binding protein binding extracellular region extracellular space apoptotic process immune response humoral immune response cell cycle arrest cell surface receptor signaling pathway JAK-STAT cascade positive regulation of cell proliferation response to virus positive regulation of autophagy positive regulation of gene expression negative regulation of gene expression positive regulation of epithelial cell migration regulation of protein ADP-ribosylation positive regulation of receptor biosynthetic process negative regulation of epithelial cell differentiation positive regulation of protein complex assembly negative regulation of interleukin-17 production positive regulation of interleukin-12 production positive regulation of interleukin-23 production positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation involved in immune response positive regulation of peptidyl-serine phosphorylation of STAT protein positive regulation of smooth muscle cell apoptotic process interleukin-12-mediated signaling pathway regulation of growth positive regulation of protein import into nucleus positive regulation of tyrosine phosphorylation of STAT protein positive regulation of tumor necrosis factor biosynthetic process positive regulation of chemokine biosynthetic process positive regulation of MHC class II biosynthetic process positive regulation of nitric oxide biosynthetic process regulation of regulatory T cell differentiation positive regulation of osteoclast differentiation positive regulation of glycolytic process negative regulation of transcription, DNA-templated astrocyte activation negative regulation of smooth muscle cell proliferation positive regulation of interleukin-1 beta biosynthetic process positive regulation of phagocytosis positive regulation of neurogenesis regulation of insulin secretion positive regulation of membrane protein ectodomain proteolysis positive regulation of nitrogen compound metabolic process defense response to virus positive regulation of killing of cells of other organism positive regulation of nitric-oxide synthase biosynthetic process interferon-gamma-mediated signaling pathway regulation of interferon-gamma-mediated signaling pathway positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity positive regulation of fructose 1,6-bisphosphate metabolic process positive regulation of vitamin D biosynthetic process positive regulation of calcidiol 1-monooxygenase activity positive regulation of protein serine/threonine kinase activity positive regulation of protein deacetylation extrinsic apoptotic signaling pathway negative regulation of beta-amyloid clearance positive regulation of neuron death positive regulation of cellular respiration positive regulation of beta-amyloid formation negative regulation of tau-protein kinase activity positive regulation of protein localization to plasma membrane positive regulation of exosomal secretion positive regulation of ferrous iron import across plasma membrane positive regulation of tumor necrosis factor secretion positive regulation of NMDA glutamate receptor activity positive regulation of core promoter binding positive regulation of tumor necrosis factor (ligand) superfamily member 11 production uc001stw.1 uc001stw.2 uc001stw.3 
ENST00000229179.9 NUP107 ENST00000229179.9 Homo sapiens nucleoporin 107 (NUP107), transcript variant 1, mRNA. (from RefSeq NM_020401) ENST00000229179.1 ENST00000229179.2 ENST00000229179.3 ENST00000229179.4 ENST00000229179.5 ENST00000229179.6 ENST00000229179.7 ENST00000229179.8 NM_020401 NU107_HUMAN P57740 uc001suf.1 uc001suf.2 uc001suf.3 uc001suf.4 uc001suf.5 This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]. Essential component of nuclear pore complex. Required for the assembly of peripheral proteins into the nuclear pore complex. Forms part of the Nup160 subcomplex in the nuclear pore which is composed of Nup160, Nup133, Nup107 and Nup96. This complex plays a role in RNA export and in tethering Nup98 and Nup153 to the nucleus. Q8WUM0:NUP133; NbExp=5; IntAct=EBI-295687, EBI-295695; Nucleus, nuclear pore complex. Chromosome, centromere, kinetochore. Note=Located on both the cytoplasmic and nuclear sides of the nuclear pore. During mitosis, localizes to the kinetochores. Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the nucleoporin Nup84/Nup107 family. chromosome, centromeric region kinetochore condensed chromosome kinetochore posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery protein binding nucleus nuclear envelope nuclear pore chromosome cytosol regulation of glycolytic process mRNA export from nucleus tRNA export from nucleus protein import into nucleus female gonad development protein transport membrane viral process protein sumoylation structural constituent of nuclear pore viral transcription nuclear pore outer ring nuclear membrane nuclear periphery host cell mRNA transport nuclear pore complex assembly regulation of gene silencing by miRNA nephron development intracellular transport of virus regulation of cellular response to heat uc001suf.1 uc001suf.2 uc001suf.3 uc001suf.4 uc001suf.5 
ENST00000229214.9 KRR1 ENST00000229214.9 Homo sapiens KRR1 small subunit processome component homolog (KRR1), mRNA. (from RefSeq NM_007043) A0FIK6 A0JLP0 B2R989 E7EUQ0 ENST00000229214.1 ENST00000229214.2 ENST00000229214.3 ENST00000229214.4 ENST00000229214.5 ENST00000229214.6 ENST00000229214.7 ENST00000229214.8 HRB2 KRR1_HUMAN NM_007043 Q13601 Q8NEA8 Q8TC37 Q96AT5 uc001sxt.1 uc001sxt.2 uc001sxt.3 uc001sxt.4 uc001sxt.5 Required for 40S ribosome biogenesis. Involved in nucleolar processing of pre-18S ribosomal RNA and ribosome assembly (By similarity). Component of the ribosomal small subunit (SSU) processome (By similarity). Directly interacts with HIV-1 protein VPR. Also identified in a complex with NR3C1 and HIV-1 protein VPR. Cytoplasm. Nucleus, nucleolus. Note=Translocates from cytoplasm to nucleus after exposure to HIV- 1 virus or HIV-1 protein VPR or induction by hydrocortisone and dexamethasone in the absence of HIV-1 protein VPR. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q13601-1; Sequence=Displayed; Name=2; IsoId=Q13601-2; Sequence=VSP_042223; Note=No experimental confirmation available; Belongs to the KRR1 family. Contains 1 KH domain. Sequence=AAB00557.1; Type=Frameshift; Positions=265, 300; Sequence=AAH05225.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; nucleic acid binding RNA binding protein binding nucleus nucleoplasm nucleolus cytoplasm rRNA processing membrane small-subunit processome ribosome biogenesis intercellular bridge uc001sxt.1 uc001sxt.2 uc001sxt.3 uc001sxt.4 uc001sxt.5 
ENST00000229238.5 MRPL51 ENST00000229238.5 Homo sapiens mitochondrial ribosomal protein L51 (MRPL51), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_016497) CDA09 ENST00000229238.1 ENST00000229238.2 ENST00000229238.3 ENST00000229238.4 HSPC241 MRP64 NM_016497 Q4U2R6 Q96Q57 Q9BQ36 Q9P0N7 RM51_HUMAN uc001qom.1 uc001qom.2 uc001qom.3 uc001qom.4 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Pseudogenes corresponding to this gene are found on chromosomes 4p and 21q. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.458397.1, SRR1660805.184931.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000229238.5/ ENSP00000229238.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Component of the mitochondrial ribosome large subunit (39S) which comprises a 16S rRNA and about 50 distinct proteins. Interacts with OXA1L (By similarity). Mitochondrion (By similarity). structural constituent of ribosome protein binding mitochondrion mitochondrial inner membrane mitochondrial ribosome mitochondrial large ribosomal subunit ribosome translation mitochondrial translation mitochondrial translational elongation mitochondrial translational termination uc001qom.1 uc001qom.2 uc001qom.3 uc001qom.4 
ENST00000229239.10 GAPDH ENST00000229239.10 Homo sapiens glyceraldehyde-3-phosphate dehydrogenase (GAPDH), transcript variant 6, non-coding RNA. (from RefSeq NR_152150) ENST00000229239.1 ENST00000229239.2 ENST00000229239.3 ENST00000229239.4 ENST00000229239.5 ENST00000229239.6 ENST00000229239.7 ENST00000229239.8 ENST00000229239.9 NR_152150 V9HVZ4 uc001qop.1 uc001qop.2 uc001qop.3 uc001qop.4 uc001qop.5 This gene encodes a member of the glyceraldehyde-3-phosphate dehydrogenase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The product of this gene catalyzes an important energy-yielding step in carbohydrate metabolism, the reversible oxidative phosphorylation of glyceraldehyde-3-phosphate in the presence of inorganic phosphate and nicotinamide adenine dinucleotide (NAD). The encoded protein has additionally been identified to have uracil DNA glycosylase activity in the nucleus. Also, this protein contains a peptide that has antimicrobial activity against E. coli, P. aeruginosa, and C. albicans. Studies of a similar protein in mouse have assigned a variety of additional functions including nitrosylation of nuclear proteins, the regulation of mRNA stability, and acting as a transferrin receptor on the cell surface of macrophage. Many pseudogenes similar to this locus are present in the human genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]. uc001qop.1 uc001qop.2 uc001qop.3 uc001qop.4 uc001qop.5 
ENST00000229243.7 ACRBP ENST00000229243.7 Homo sapiens acrosin binding protein (ACRBP), mRNA. (from RefSeq NM_032489) ACRBP_HUMAN ENST00000229243.1 ENST00000229243.2 ENST00000229243.3 ENST00000229243.4 ENST00000229243.5 ENST00000229243.6 NM_032489 Q8NEB7 Q9BY87 uc001qpu.1 uc001qpu.2 uc001qpu.3 The protein encoded by this gene is similar to proacrosin binding protein sp32 precursor found in mouse, guinea pig, and pig. This protein is located in the sperm acrosome and is thought to function as a binding protein to proacrosin for packaging and condensation of the acrosin zymogen in the acrosomal matrix. This protein is a member of the cancer/testis family of antigens and it is found to be immunogenic. In normal tissues, this mRNA is expressed only in testis, whereas it is detected in a range of different tumor types such as bladder, breast, lung, liver, and colon. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.225875.1, SRR5189667.186649.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000229243.7/ ENSP00000229243.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May be involved in packaging and condensation of the acrosin zymogen in the acrosomal matrix via its association with proacrosin (By similarity). Binds proacrosin (By similarity). Secreted (By similarity). Cytoplasmic vesicle, secretory vesicle, acrosome (By similarity). Note=Colocalizes with proacrosin in the acrosome of sperm (By similarity). Expression restricted to testis in normal tissue. Expressed in a wide spectrum of cancers, including bladder, breast, liver, lung and colon cancers. The N-terminus is blocked (By similarity). Phosphorylated on Tyr residues in capacitated sperm (By similarity). acrosomal vesicle acrosome assembly acrosomal membrane molecular_function extracellular region nucleus spermatid development biological_process fertilization cytoplasmic vesicle uc001qpu.1 uc001qpu.2 uc001qpu.3 
ENST00000229264.8 GNB3 ENST00000229264.8 Homo sapiens G protein subunit beta 3 (GNB3), transcript variant 1, mRNA. (from RefSeq NM_002075) ENST00000229264.1 ENST00000229264.2 ENST00000229264.3 ENST00000229264.4 ENST00000229264.5 ENST00000229264.6 ENST00000229264.7 GBB3_HUMAN NM_002075 P16520 Q9BQC0 uc001qrd.1 uc001qrd.2 uc001qrd.3 uc001qrd.4 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit which belongs to the WD repeat G protein beta family. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]. Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction. G proteins are composed of 3 units, alpha, beta and gamma. Interacts with RASD2. Belongs to the WD repeat G protein beta family. Contains 7 WD repeats. GTPase activity protein binding cytosol plasma membrane protein folding cell volume homeostasis signal transduction G-protein coupled receptor signaling pathway regulation of blood pressure regulation of gene expression regulation of glucose metabolic process dendrite spectrin binding regulation of hormone metabolic process neuron projection cell body regulation of fat cell differentiation GTPase binding extracellular exosome regulation of cholesterol metabolic process regulation of triglyceride metabolic process regulation of phospholipid metabolic process regulation of feeding behavior regulation of locomotion involved in locomotory behavior uc001qrd.1 uc001qrd.2 uc001qrd.3 uc001qrd.4 
ENST00000229266.8 CHPT1 ENST00000229266.8 Homo sapiens choline phosphotransferase 1 (CHPT1), mRNA. (from RefSeq NM_020244) B3KQM2 CHPT1_HUMAN CPT1 ENST00000229266.1 ENST00000229266.2 ENST00000229266.3 ENST00000229266.4 ENST00000229266.5 ENST00000229266.6 ENST00000229266.7 MSTP022 NM_020244 Q7Z7H0 Q7Z7H1 Q7Z7H2 Q8IWQ4 Q8IWQ5 Q8WUD6 Q8WYI4 Q9NRQ6 Q9NRQ7 Q9Y6M6 uc001tin.1 uc001tin.2 uc001tin.3 uc001tin.4 uc001tin.5 Catalyzes phosphatidylcholine biosynthesis from CDP- choline. It thereby plays a central role in the formation and maintenance of vesicular membranes. CDP-choline + 1,2-diacylglycerol = CMP + a phosphatidylcholine. Magnesium or manganese. Phospholipid metabolism; phosphatidylcholine biosynthesis; phosphatidylcholine from phosphocholine: step 2/2. Golgi apparatus membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Alpha; IsoId=Q8WUD6-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=Q8WUD6-2; Sequence=VSP_025989, VSP_025990; Highly expressed in testis, colon, small intestine, heart, prostate and spleen. Also detected in kidney, skeletal muscle, pancreas, leukocytes, ovary and thymus. Weakly expressed in the brain, placenta and lung. Overexpressed in cancerous breast epithelial cell lines. Belongs to the CDP-alcohol phosphatidyltransferase class-I family. Sequence=AAD44019.1; Type=Frameshift; Positions=310; Sequence=AAL39005.1; Type=Erroneous initiation; Golgi membrane regulation of cell growth diacylglycerol cholinephosphotransferase activity endoplasmic reticulum membrane Golgi apparatus lipid metabolic process phosphatidylcholine biosynthetic process CDP-choline pathway platelet activating factor biosynthetic process phospholipid biosynthetic process membrane integral component of membrane transferase activity phosphotransferase activity, for other substituted phosphate groups diacylglycerol binding intracellular membrane-bounded organelle metal ion binding uc001tin.1 uc001tin.2 uc001tin.3 uc001tin.4 uc001tin.5 
ENST00000229268.13 USP5 ENST00000229268.13 Homo sapiens ubiquitin specific peptidase 5 (USP5), transcript variant 12, non-coding RNA. (from RefSeq NR_168455) D3DUS7 D3DUS8 ENST00000229268.1 ENST00000229268.10 ENST00000229268.11 ENST00000229268.12 ENST00000229268.2 ENST00000229268.3 ENST00000229268.4 ENST00000229268.5 ENST00000229268.6 ENST00000229268.7 ENST00000229268.8 ENST00000229268.9 ISOT NR_168455 P45974 Q96J22 UBP5_HUMAN uc001qri.1 uc001qri.2 uc001qri.3 uc001qri.4 uc001qri.5 uc001qri.6 Ubiquitin (see MIM 191339)-dependent proteolysis is a complex pathway of protein metabolism implicated in such diverse cellular functions as maintenance of chromatin structure, receptor function, and degradation of abnormal proteins. A late step of the process involves disassembly of the polyubiquitin chains on degraded proteins into ubiquitin monomers. USP5 disassembles branched polyubiquitin chains by a sequential exo mechanism, starting at the proximal end of the chain (Wilkinson et al., 1995 [PubMed 7578059]).[supplied by OMIM, Mar 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. Cleaves linear and branched multiubiquitin polymers with a marked preference for branched polymers. Involved in unanchored 'Lys-48'-linked polyubiquitin disassembly. Binds linear and 'Lys- 63'-linked polyubiquitin with a lower affinity. Knock-down of USP5 causes the accumulation of p53/TP53 and an increase in p53/TP53 transcriptional activity because the unanchored polyubiquitin that accumulates is able to compete with ubiquitinated p53/TP53 but not with MDM2 for proteasomal recognition. Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal). Binds 1 zinc ion. Interacts with TRIML1 (By similarity). O75528:TADA3; NbExp=2; IntAct=EBI-741277, EBI-473249; Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=P45974-1; Sequence=Displayed; Name=Short; IsoId=P45974-2; Sequence=VSP_005259; The UBP-type zinc finger domain interacts selectively with an unmodified C-terminus of the proximal ubiquitin. Both UBA domains are involved in polyubiquitin recognition. The UBP-type zinc finger domain crystallizes as a dimer linked by a disulfide bond between the Cys-195 residues of both molecules, but there is no evidence that the full-length USP5 exists as a dimer. Belongs to the peptidase C19 family. Contains 2 UBA domains. Contains 1 UBP-type zinc finger. cysteine-type endopeptidase activity thiol-dependent ubiquitin-specific protease activity protein binding lysosome cytosol proteolysis ubiquitin-dependent protein catabolic process peptidase activity cysteine-type peptidase activity zinc ion binding protein ubiquitination protein deubiquitination hydrolase activity positive regulation of proteasomal ubiquitin-dependent protein catabolic process thiol-dependent ubiquitinyl hydrolase activity ubiquitin binding metal ion binding protein K48-linked deubiquitination uc001qri.1 uc001qri.2 uc001qri.3 uc001qri.4 uc001qri.5 uc001qri.6 
ENST00000229281.6 C12orf57 ENST00000229281.6 Homo sapiens chromosome 12 open reading frame 57 (C12orf57), transcript variant 1, mRNA. (from RefSeq NM_138425) B2R4Q6 C10 C10_HUMAN ENST00000229281.1 ENST00000229281.2 ENST00000229281.3 ENST00000229281.4 ENST00000229281.5 NM_138425 Q99622 uc001qrz.1 uc001qrz.2 uc001qrz.3 uc001qrz.4 uc001qrz.5 This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]. Belongs to the UPF0456 family. molecular_function cytoplasm post-embryonic development regulation of skeletal muscle contraction nuclear speck corpus callosum morphogenesis third ventricle development psychomotor behavior camera-type eye morphogenesis cognition uc001qrz.1 uc001qrz.2 uc001qrz.3 uc001qrz.4 uc001qrz.5 
ENST00000229304.5 APOBEC1 ENST00000229304.5 Homo sapiens apolipoprotein B mRNA editing enzyme catalytic subunit 1 (APOBEC1), transcript variant 3, mRNA. (from RefSeq NM_005889) ABEC1_HUMAN ENST00000229304.1 ENST00000229304.2 ENST00000229304.3 ENST00000229304.4 NM_005889 P41238 Q9UE64 Q9UM71 uc001qtb.1 uc001qtb.2 uc001qtb.3 uc001qtb.4 uc001qtb.5 This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]. Catalytic component of the apolipoprotein B mRNA editing enzyme complex which is responsible for the postranscriptional editing of a CAA codon for Gln to a UAA codon for stop in the APOB mRNA. Also involved in CGA (Arg) to UGA (Stop) editing in the NF1 mRNA. May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation. Zinc (By similarity). Homodimer. Part of the apolipoprotein B mRNA editing complex with A1CF. Found in a complex with CELF2/CUGBP2 and A1CF. Interacts with HNRPAB and SYNCRIP. Cytoplasm. Expressed exclusively in the small intestine. Belongs to the cytidine and deoxycytidylate deaminase family. RNA binding mRNA binding catalytic activity cytidine deaminase activity cytosine deaminase activity protein binding nucleus nucleoplasm cytoplasm RNA processing mRNA processing lipid metabolic process triglyceride metabolic process response to osmotic stress enzyme activator activity zinc ion binding cytidine deamination response to zinc ion response to gamma radiation cytidine to uridine editing mRNA modification hydrolase activity protein domain specific binding cellular response to insulin stimulus mRNA 3'-UTR AU-rich region binding regulation of cell proliferation lipoprotein metabolic process lipoprotein biosynthetic process response to drug lipoprotein transport ribonucleoprotein complex binding positive regulation of catalytic activity response to ethanol metal ion binding mRNA stabilization response to calcium ion defense response to virus DNA cytosine deamination DNA demethylation negative regulation of triglyceride metabolic process negative regulation of methylation-dependent chromatin silencing positive regulation of mRNA modification uc001qtb.1 uc001qtb.2 uc001qtb.3 uc001qtb.4 uc001qtb.5 
ENST00000229307.9 NANOG ENST00000229307.9 Homo sapiens Nanog homeobox (NANOG), transcript variant 1, mRNA. (from RefSeq NM_024865) D3DUU4 ENST00000229307.1 ENST00000229307.2 ENST00000229307.3 ENST00000229307.4 ENST00000229307.5 ENST00000229307.6 ENST00000229307.7 ENST00000229307.8 NANOG_HUMAN NM_024865 Q2TTG0 Q6JZS5 Q9H9S0 uc009zfy.1 uc009zfy.2 uc009zfy.3 The protein encoded by this gene is a DNA binding homeobox transcription factor involved in embryonic stem (ES) cell proliferation, renewal, and pluripotency. The encoded protein can block ES cell differentiation and can also autorepress its own expression in differentiating cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]. Transcription regulator involved in inner cell mass and embryonic stem (ES) cells proliferation and self-renewal. Imposes pluripotency on ES cells and prevents their differentiation towards extraembryonic endoderm and trophectoderm lineages. Blocks bone morphogenetic protein-induced mesoderm differentiation of ES cells by physically interacting with SMAD1 and interfering with the recruitment of coactivators to the active SMAD transcriptional complexes. Acts as a transcriptional activator or repressor. Binds optimally to the DNA consensus sequence 5'-TAAT[GT][GT]-3' or 5'- [CG][GA][CG]C[GC]ATTAN[GC]-3'. Able to autorepress its expression in differentiating (ES) cells: binds to its own promoter following interaction with ZNF281/ZFP281, leading to recruitment of the NuRD complex and subsequent repression of expression. When overexpressed, promotes cells to enter into S phase and proliferation. Interacts with SMAD1 and SALL4. Interacts with ZNF281/ZFP281 (By similarity). Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H9S0-1; Sequence=Displayed; Name=2; Synonyms=Nanog-delta 48; IsoId=Q9H9S0-2; Sequence=VSP_021688; Expressed in testicular carcinoma and derived germ cell tumors (at protein level). Expressed in fetal gonads, ovary and testis. Also expressed in ovary teratocarcinoma cell line and testicular embryonic carcinoma. Not expressed in many somatic organs and oocytes. Expressed in embryonic stem (ES) and carcinoma (EC) cells. Expressed in inner cell mass (ICM) of the blastocyst and gonocytes between 14 and 19 weeks of gestation (at protein level). Not expressed in oocytes, unfertilized oocytes, 2- 16 cell embryos and early morula (at protein level). Expressed in embryonic stem cells (ES). Expression decreases with ES differentiation. Exists an other tandem duplicated non-processed pseudogene (NANOGP1) and 10 other NANOG-related nucleotide sequences located on different chromosomes, all of which are processed pseudogenes lacking introns (NANOGP2 to NANOGP11); except NANOGP8 which is a retrogene. Belongs to the Nanog homeobox family. Contains 1 homeobox DNA-binding domain. Name=Wikipedia; Note=Nanog entry; URL="http://en.wikipedia.org/wiki/Nanog"; nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding endodermal cell fate specification DNA binding transcription factor activity, sequence-specific DNA binding transcription corepressor activity protein binding nucleus nucleoplasm nucleolus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development regulation of gene expression cytokine-mediated signaling pathway stem cell population maintenance cell differentiation somatic stem cell population maintenance sequence-specific DNA binding transcription regulatory region DNA binding regulation of cell differentiation positive regulation of transcription from RNA polymerase II promoter negative regulation of nucleic acid-templated transcription positive regulation of stem cell proliferation uc009zfy.1 uc009zfy.2 uc009zfy.3 
ENST00000229314.10 GOLT1B ENST00000229314.10 Homo sapiens golgi transport 1B (GOLT1B), mRNA. (from RefSeq NM_016072) B2R4R4 CGI-141 ENST00000229314.1 ENST00000229314.2 ENST00000229314.3 ENST00000229314.4 ENST00000229314.5 ENST00000229314.6 ENST00000229314.7 ENST00000229314.8 ENST00000229314.9 GOT1A GOT1B_HUMAN HDCMA39P NM_016072 Q54A40 Q6I9W6 Q9P1R9 Q9Y3E0 UNQ432/PRO793 uc001rez.1 uc001rez.2 uc001rez.3 uc001rez.4 May be involved in fusion of ER-derived transport vesicles with the Golgi complex. Golgi apparatus membrane; Multi-pass membrane protein. Belongs to the GOT1 family. Sequence=AAF65181.1; Type=Erroneous initiation; Golgi membrane endoplasmic reticulum Golgi apparatus protein transport membrane integral component of membrane vesicle-mediated transport macromolecular complex positive regulation of I-kappaB kinase/NF-kappaB signaling uc001rez.1 uc001rez.2 uc001rez.3 uc001rez.4 
ENST00000229329.7 CMAS ENST00000229329.7 Homo sapiens cytidine monophosphate N-acetylneuraminic acid synthetase (CMAS), transcript variant 1, mRNA. (from RefSeq NM_018686) ENST00000229329.1 ENST00000229329.2 ENST00000229329.3 ENST00000229329.4 ENST00000229329.5 ENST00000229329.6 NEUA_HUMAN NM_018686 Q8NFW8 Q96AX5 Q9NQZ0 uc001rfm.1 uc001rfm.2 uc001rfm.3 uc001rfm.4 uc001rfm.5 uc001rfm.6 This gene encodes an enzyme that converts N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc). This process is important in the formation of sialylated glycoprotein and glycolipids. This modification plays a role in cell-cell communications and immune responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. Catalyzes the activation of N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc), a substrate required for the addition of sialic acid. Has some activity toward NeuNAc, N-glycolylneuraminic acid (Neu5Gc) or 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN). CTP + N-acylneuraminate = diphosphate + CMP-N- acylneuraminate. Amino-sugar metabolism; N-acetylneuraminate metabolism. Homotetramer; the active enzyme is formed by a dimer of dimers. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8NFW8-1; Sequence=Displayed; Name=2; IsoId=Q8NFW8-2; Sequence=VSP_012764; Note=No experimental confirmation available; Ubiquitously expressed. Expressed in pancreas, kidney, liver, skeletal muscle, lung, placenta, brain, heart, colon, PBL, small intestine, ovary, testis, prostate, thymus and spleen. The BC2 (basic cluster 2) motif is necessary and sufficient for the nuclear localization and contains the catalytic active site. The localization in the nucleus is however not required for the enzyme activity (By similarity). Belongs to the CMP-NeuNAc synthase family. nucleus nucleoplasm N-acetylneuraminate metabolic process N-acylneuraminate cytidylyltransferase activity membrane transferase activity nucleotidyltransferase activity uc001rfm.1 uc001rfm.2 uc001rfm.3 uc001rfm.4 uc001rfm.5 uc001rfm.6 
ENST00000229330.9 HCFC2 ENST00000229330.9 Homo sapiens host cell factor C2 (HCFC2), mRNA. (from RefSeq NM_013320) B2R8Q5 ENST00000229330.1 ENST00000229330.2 ENST00000229330.3 ENST00000229330.4 ENST00000229330.5 ENST00000229330.6 ENST00000229330.7 ENST00000229330.8 HCFC2_HUMAN NM_013320 Q9Y5Z7 uc001tkj.1 uc001tkj.2 uc001tkj.3 uc001tkj.4 uc001tkj.5 uc001tkj.6 This gene encodes one of two proteins which interact with VP16, a herpes simplex virus protein that initiates virus infection. Both the encoded protein and the original Herpes host cell factor interact with VP16 through a beta-propeller domain. The original Herpes host cell factor, however, is effective at initiating viral infection while the encoded protein is not. Transcripts of varying length due to alternative polyadenylation signals have been described. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.206310.1, SRR1660803.229480.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000229330.9/ ENSP00000229330.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Binds MLL. Component of the MLL1/MLL complex, at least composed of MLL, ASH2L, RBBP5, DPY30, WDR5, MEN1, HCFC1 and HCFC2. Cytoplasm. Nucleus. Highly expressed in testis. Detected at lower levels in spleen, thymus, prostate, ovary, small intestine and colon. Contains 3 fibronectin type-III domains. Contains 4 Kelch repeats. negative regulation of transcription from RNA polymerase II promoter transcription coactivator activity protein binding nucleus nucleoplasm cytoplasm cytosol plasma membrane regulation of transcription from RNA polymerase II promoter viral process MLL1 complex positive regulation of nucleic acid-templated transcription uc001tkj.1 uc001tkj.2 uc001tkj.3 uc001tkj.4 uc001tkj.5 uc001tkj.6 
ENST00000229332.12 CLEC4A ENST00000229332.12 Homo sapiens C-type lectin domain family 4 member A (CLEC4A), transcript variant 1, mRNA. (from RefSeq NM_016184) CLC4A_HUMAN CLECSF6 DCIR ENST00000229332.1 ENST00000229332.10 ENST00000229332.11 ENST00000229332.2 ENST00000229332.3 ENST00000229332.4 ENST00000229332.5 ENST00000229332.6 ENST00000229332.7 ENST00000229332.8 ENST00000229332.9 HDCGC13P LLIR NM_016184 Q17R69 Q8WXW9 Q9H2Z9 Q9NS33 Q9UI34 Q9UMR7 uc001qtz.1 uc001qtz.2 This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in inflammatory and immune response. Multiple transcript variants encoding distinct isoforms have been identified for this gene. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]. May be involved in regulating immune reactivity. May play a role in modulating dendritic cells (DC) differentiation and/or maturation. May be involved via its ITIM motif (immunoreceptor tyrosine-based inhibitory motifs) in the inhibition of B-cell-receptor-mediated calcium mobilization and protein tyrosine phosphorylation. May interact with PTPN6 via its ITIM motif. Membrane; Single-pass type II membrane protein (Probable). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9UMR7-1; Sequence=Displayed; Name=2; IsoId=Q9UMR7-2; Sequence=VSP_012844; Name=3; Synonyms=llirV1; IsoId=Q9UMR7-3; Sequence=VSP_041348; Name=4; Synonyms=llirV2; IsoId=Q9UMR7-4; Sequence=VSP_012842; Expressed in dendritic cells, myeloid cells, B-cells and HL-60 cells (at protein level). TNF alpha, IL-1 alpha, and LPS, down-regulated expression at the surface of neutrophils (at protein level). Expressed preferentially in hematopoietic tissues. Expressed in peripheral blood leukocytes, neutrophils, moderate quantities in spleen, lymph node, and bone marrow, and at very low levels in thymus. Expressed in Ag-presenting cells (DC, monocytes, macrophages and B-cells), as well as on granulocytes. Expression was decreased in DC by signals inducing its maturation (e.g. CD40 ligand, LPS, and TNF alpha). Isoform 2 mRNA expression is up-regulated by agonists of neutrophils CSF2/GM-CSF, IL3/interleukin-3, IL4/interleukin-4 and IL13/interleukin-13. Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2- containing phosphatases. Contains 1 C-type lectin domain. Sequence=AAL56016.1; Type=Frameshift; Positions=229; Name=Functional Glycomics Gateway - Glycan Binding; Note=DCIR; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_00137"; negative regulation of cytokine production stimulatory C-type lectin receptor signaling pathway adaptive immune response immune system process plasmacytoid dendritic cell antigen processing and presentation transmembrane signaling receptor activity calcium ion binding mannose binding plasma membrane integral component of plasma membrane cell adhesion cell surface receptor signaling pathway membrane integral component of membrane carbohydrate binding negative regulation of tumor necrosis factor production CD8-positive, alpha-beta T cell activation antigen processing and presentation of exogenous peptide antigen via MHC class I innate immune response metal ion binding uc001qtz.1 uc001qtz.2 
ENST00000229335.11 AICDA ENST00000229335.11 Homo sapiens activation induced cytidine deaminase (AICDA), transcript variant 1, mRNA. (from RefSeq NM_020661) AICDA_HUMAN AID ENST00000229335.1 ENST00000229335.10 ENST00000229335.2 ENST00000229335.3 ENST00000229335.4 ENST00000229335.5 ENST00000229335.6 ENST00000229335.7 ENST00000229335.8 ENST00000229335.9 NM_020661 Q9GZX7 uc001qur.1 uc001qur.2 uc001qur.3 uc001qur.4 This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. AICDA is specifically expressed and active in germinal center-like B cells. In the germinal center, AICDA is involved in somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. An epigenetic role in neoplastic transformation and lymphoma progression has been experimentally ascribed to AICDA using mouse models. Defects in this gene are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq, Jul 2020]. Single-stranded DNA-specific cytidine deaminase. Involved in somatic hypermutation, gene conversion, and class- switch recombination in B-lymphocytes. Required for several crucial steps of B-cell terminal differentiation necessary for efficient antibody responses. May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation. Cytidine + H(2)O = uridine + NH(3). Zinc (By similarity). Interacts with CTNNBL1; the interaction is important for the immunoglobulin switch activity of AICDA. Interacts (via its NLS) with KPNA1. P24522:GADD45A; NbExp=5; IntAct=EBI-3834328, EBI-448167; Q13569:TDG; NbExp=5; IntAct=EBI-3834328, EBI-348333; Nucleus. Cytoplasm. Note=Predominantly cytoplasmic but shuttles between the nucleus and the cytoplasm. Strongly expressed in lymph nodes and tonsils. Phosphorylated. Defects in AICDA are the cause of immunodeficiency with hyper-IgM type 2 (HIGM2) [MIM:605258]. A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections. Belongs to the cytidine and deoxycytidylate deaminase family. Name=AICDAbase; Note=AICDA mutation db; URL="http://bioinf.uta.fi/AICDAbase/"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AICDA"; P-body RNA binding catalytic activity cytidine deaminase activity protein binding nucleus cytoplasm mRNA processing zinc ion binding cytidine deamination negative regulation of transposition somatic diversification of immunoglobulins somatic hypermutation of immunoglobulin genes cytidine to uridine editing hydrolase activity B cell differentiation ubiquitin protein ligase binding macromolecular complex regulation of nuclear cell cycle DNA replication defense response to bacterium identical protein binding isotype switching negative regulation of single stranded viral RNA replication via double stranded DNA intermediate metal ion binding deoxycytidine deaminase activity defense response to virus DNA cytosine deamination cellular response to lipopolysaccharide DNA demethylation negative regulation of methylation-dependent chromatin silencing uc001qur.1 uc001qur.2 uc001qur.3 uc001qur.4 
ENST00000229340.10 RAB35 ENST00000229340.10 Homo sapiens RAB35, member RAS oncogene family (RAB35), transcript variant 1, mRNA. (from RefSeq NM_006861) B2R6E0 B4E390 ENST00000229340.1 ENST00000229340.2 ENST00000229340.3 ENST00000229340.4 ENST00000229340.5 ENST00000229340.6 ENST00000229340.7 ENST00000229340.8 ENST00000229340.9 NM_006861 Q15286 RAB1C RAB35_HUMAN RAY uc001txm.1 uc001txm.2 uc001txm.3 In the process of endocytosis, essential rate-limiting regulator of a fast recycling pathway back to the plasma membrane. During cytokinesis, required for the postfurrowing terminal steps, namely for intercellular bridge stability and abscission, possibly by controlling phosphatidylinositol 4,5-bis phosphate (PIP2) and SEPT2 localization at the intercellular bridge. Interacts with DENND1A and DENND1B in a nucleotide- dependent manner. The low binding to DENND1C is nucleotide- independent. All 3 DENND1 act as GEFs for RAB35 and thus activate the protein. Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Membrane, clathrin-coated pit. Cytoplasmic vesicle, clathrin-coated vesicle. Endosome. Melanosome. Note=Present on sorting endosomes and endosomal tubules. Tends to be enriched in PIP2-positive cell membrane domains. During mitosis, associated with the plasma membrane and present at the ingressing furrow during early cytokinesis as well as at the intercellular bridge later during cytokinesis. Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q15286-1; Sequence=Displayed; Name=2; IsoId=Q15286-2; Sequence=VSP_042918; Note=No experimental confirmation available; AMPylation at Tyr-77 by L.pneumophila DrrA occurs in the switch 2 region and leads to moderate inactivation of the GTPase activity. It appears to prolong the lifetime of the GTP state of RAB1B by restricting access of GTPase effectors to switch 2 and blocking effector-stimulated GTP hydrolysis, thereby rendering RAB35 constitutively active. Phosphocholinated by L.pneumophila AnkX. Both GDP-bound and GTP-bound forms can be phosphocholinated. Phosphocholination inhibits the GEF activity of DENND1A. Belongs to the small GTPase superfamily. Rab family. nucleotide binding mitotic cytokinesis GTPase activity protein binding GTP binding phosphatidylinositol-4,5-bisphosphate binding endosome cytosol plasma membrane clathrin-coated pit intracellular protein transport protein localization endosome membrane protein transport membrane endosomal transport GDP binding antigen processing and presentation clathrin-coated vesicle clathrin-coated vesicle membrane neuron projection development cell projection membrane cytoplasmic vesicle endocytic recycling Rab protein signal transduction protein localization to endosome melanosome intercellular bridge clathrin-coated endocytic vesicle plasma membrane to endosome transport recycling endosome membrane extracellular exosome anchored component of synaptic vesicle membrane cellular response to nerve growth factor stimulus uc001txm.1 uc001txm.2 uc001txm.3 
ENST00000229379.3 COX6A1 ENST00000229379.3 Homo sapiens cytochrome c oxidase subunit 6A1 (COX6A1), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_004373) B2R500 COX6AL CX6A1_HUMAN ENST00000229379.1 ENST00000229379.2 NM_004373 O43714 P12074 Q32Q37 uc001tyf.1 uc001tyf.2 uc001tyf.3 Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AV716665.1, SRR1163657.341458.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000229379.3/ ENSP00000229379.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. Mitochondrion inner membrane. Belongs to the cytochrome c oxidase subunit 6A family. Sequence=CAA33392.1; Type=Frameshift; Positions=17; cytochrome-c oxidase activity mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex IV generation of precursor metabolites and energy mitochondrial electron transport, cytochrome c to oxygen aerobic respiration membrane enzyme regulator activity regulation of catalytic activity hydrogen ion transmembrane transport uc001tyf.1 uc001tyf.2 uc001tyf.3 
ENST00000229390.8 SRSF9 ENST00000229390.8 Homo sapiens serine and arginine rich splicing factor 9 (SRSF9), mRNA. (from RefSeq NM_003769) ENST00000229390.1 ENST00000229390.2 ENST00000229390.3 ENST00000229390.4 ENST00000229390.5 ENST00000229390.6 ENST00000229390.7 NM_003769 Q13242 Q52LD1 SFRS9 SRP30C SRSF9_HUMAN uc001tyi.1 uc001tyi.2 uc001tyi.3 uc001tyi.4 uc001tyi.5 The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two pseudogenes, one on chromosome 15 and the other on chromosome 21, have been found for this gene. [provided by RefSeq, Sep 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.125813.1, SRR1163655.38947.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2142680 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000229390.8/ ENSP00000229390.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays a role in constitutive splicing and can modulate the selection of alternative splice sites. Represses the splicing of MAPT/Tau exon 10. Interacts with KHDRBS3 (By similarity). Interacts with NOL3/ARC/NOP30, NSEP1/YB-1/YB1, SAFB/SAFB1, SRSF6/SFRS6 and TRA2B/SFRS10. May also interact with DUSP11/PIR1. Nucleus. Note=Cellular stresses such as heat shock may induce localization to discrete nuclear bodies termed SAM68 nuclear bodies (SNBs), HAP bodies, or stress bodies. Numerous splicing factors including SRSF1/SFRS1/SF2, SRSF7/SFRS7, SAFB and KHDRBS1/SAM68 accumulate at these structures, which may participate in the post-transcriptional regulation of mRNAs in stressed cells. Expressed at high levels in the heart, kidney, pancreas and placenta, and at lower levels in the brain, liver, lung and skeletal muscle. Extensively phosphorylated on serine residues in the RS domain (By similarity). Belongs to the splicing factor SR family. Contains 2 RRM (RNA recognition motif) domains. regulation of alternative mRNA splicing, via spliceosome mRNA splicing, via spliceosome nucleic acid binding RNA binding protein binding nucleus nucleoplasm nucleolus mRNA splice site selection mRNA processing RNA export from nucleus mRNA export from nucleus RNA splicing response to toxic substance nuclear speck protein domain specific binding mRNA 3'-end processing response to alkaloid mRNA cis splicing, via spliceosome negative regulation of mRNA splicing, via spliceosome uc001tyi.1 uc001tyi.2 uc001tyi.3 uc001tyi.4 uc001tyi.5 
ENST00000229402.4 KLRB1 ENST00000229402.4 Homo sapiens killer cell lectin like receptor B1 (KLRB1), mRNA. (from RefSeq NM_002258) CLEC5B ENST00000229402.1 ENST00000229402.2 ENST00000229402.3 KLRB1_HUMAN NKRP1A NM_002258 Q12918 Q24K24 uc010sgt.1 uc010sgt.2 uc010sgt.3 uc010sgt.4 Natural killer (NK) cells are lymphocytes that mediate cytotoxicity and secrete cytokines after immune stimulation. Several genes of the C-type lectin superfamily, including the rodent NKRP1 family of glycoproteins, are expressed by NK cells and may be involved in the regulation of NK cell function. The KLRB1 protein contains an extracellular domain with several motifs characteristic of C-type lectins, a transmembrane domain, and a cytoplasmic domain. The KLRB1 protein is classified as a type II membrane protein because it has an external C terminus. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC027885.1, AK292022.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000229402.4/ ENSP00000229402.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays an inhibitory role on natural killer (NK) cells cytotoxicity. Activation results in specific acid sphingomyelinase/SMPD1 stimulation with subsequent marked elevation of intracellular ceramide. Activation also leads to AKT1/PKB and RPS6KA1/RSK1 kinases stimulation as well as markedly enhanced T-cell proliferation induced by anti-CD3. Acts as a lectin that binds to the terminal carbohydrate Gal-alpha(1,3)Gal epitope as well as to the N-acetyllactosamine epitope. Binds also to CLEC2D/LLT1 as a ligand and inhibits NK cell-mediated cytotoxicity as well as interferon-gamma secretion in target cells. Homodimer; disulfide-linked. Interacts with acid sphingomyelinase/SMPD1. Membrane; Single-pass type II membrane protein (Potential). Expressed in a subset of NK cells predominantly in intestinal epithelium and liver. Detected in peripheral blood T-cells and preferentially in adult T-cells with a memory antigenic phenotype. By IL12/interleukin-12 in NK cells. N-glycosylated. Contains sialic acid residues. Contains 1 C-type lectin domain. Name=Functional Glycomics Gateway - Glycan Binding; Note=NKRP1; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_248"; transmembrane signaling receptor activity protein binding plasma membrane cell surface receptor signaling pathway membrane integral component of membrane carbohydrate binding regulation of immune response uc010sgt.1 uc010sgt.2 uc010sgt.3 uc010sgt.4 
ENST00000229465.10 ENSG00000232774 ENST00000229465.10 ENSG00000232774 (from geneSymbol) AK026100 ENST00000229465.1 ENST00000229465.2 ENST00000229465.3 ENST00000229465.4 ENST00000229465.5 ENST00000229465.6 ENST00000229465.7 ENST00000229465.8 ENST00000229465.9 uc059cgh.1 uc059cgh.1 
ENST00000229554.10 RSPH4A ENST00000229554.10 Homo sapiens radial spoke head component 4A (RSPH4A), transcript variant 1, mRNA. (from RefSeq NM_001010892) B4DSI1 ENST00000229554.1 ENST00000229554.2 ENST00000229554.3 ENST00000229554.4 ENST00000229554.5 ENST00000229554.6 ENST00000229554.7 ENST00000229554.8 ENST00000229554.9 NM_001010892 Q3KP24 Q5TD94 Q5TD95 RSH4A_HUMAN RSHL3 uc003pxe.1 uc003pxe.2 uc003pxe.3 uc003pxe.4 This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]. Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk which is attached to a subfiber of the outer doublet microtubule, and a bulbous head which is attached to the stalk and appears to interact with the projections from the central pair of microtubules. Cytoplasm, cytoskeleton, cilium axoneme (Probable). Note=Radial spoke (Probable). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q5TD94-1; Sequence=Displayed; Note=Gene prediction based on EST data; Name=2; IsoId=Q5TD94-2; Sequence=VSP_030125; Note=Gene prediction based on EST data; Name=3; IsoId=Q5TD94-3; Sequence=VSP_030126, VSP_030127; Note=No experimental confirmation available; Defects in RSPH4A are the cause of primary ciliary dyskinesia type 11 (CILD11) [MIM:612649]. CILD is an autosomal recessive disorder characterized by axonemal abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. Belongs to the flagellar radial spoke RSP4/6 family. radial spoke cilium movement molecular_function nucleus nucleoplasm nucleolus cytoplasm cytoskeleton cilium axoneme motile cilium axoneme assembly cell projection cilium assembly cilium movement involved in cell motility uc003pxe.1 uc003pxe.2 uc003pxe.3 uc003pxe.4 
ENST00000229595.6 ASF1A ENST00000229595.6 Homo sapiens anti-silencing function 1A histone chaperone (ASF1A), mRNA. (from RefSeq NM_014034) ASF1A_HUMAN CGI-98 ENST00000229595.1 ENST00000229595.2 ENST00000229595.3 ENST00000229595.4 ENST00000229595.5 HSPC146 NM_014034 Q6IA08 Q9P014 Q9Y294 uc011ebn.1 uc011ebn.2 uc011ebn.3 uc011ebn.4 This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The protein is a key component of a histone donor complex that functions in nucleosome assembly. It interacts with histones H3 and H4, and functions together with a chromatin assembly factor during DNA replication and repair. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660803.80138.1, SRR1660805.154207.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000229595.6/ ENSP00000229595.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Histone chaperone that facilitates histone deposition and histone exchange and removal during nucleosome assembly and disassembly. Cooperates with chromatin assembly factor 1 (CAF-1) to promote replication-dependent chromatin assembly and with HIRA to promote replication-independent chromatin assembly. Required for the formation of senescence-associated heterochromatin foci (SAHF) and efficient senescence-associated cell cycle exit. Interacts with histone H3 (including both histone H3.1 and H3.3) and histone H4. Interacts with the CHAF1A, CHAF1B and RBBP4 subunits of the CAF-1 complex. Interacts with CABIN1, HAT1, HIRA, NASP, TAF1, TLK1, TLK2 and UBN1. P03372:ESR1; NbExp=2; IntAct=EBI-749553, EBI-78473; Nucleus. Ubiquitously expressed. Phosphorylated by TLK1 and TLK2. Highly phosphorylated in S- phase and at lower levels in M-phase. TLK2-mediated phosphorylation at Ser-192 prevents proteasome-dependent degradation. Belongs to the ASF1 family. nuclear chromatin osteoblast differentiation chromatin binding protein binding nucleus nucleoplasm DNA repair chromatin organization chromatin assembly or disassembly nucleosome assembly DNA replication-dependent nucleosome assembly DNA replication-independent nucleosome assembly negative regulation of chromatin silencing macromolecular complex histone binding muscle cell differentiation uc011ebn.1 uc011ebn.2 uc011ebn.3 uc011ebn.4 
ENST00000229633.7 HINT3 ENST00000229633.7 Homo sapiens histidine triad nucleotide binding protein 3 (HINT3), mRNA. (from RefSeq NM_138571) B3KQ91 ENST00000229633.1 ENST00000229633.2 ENST00000229633.3 ENST00000229633.4 ENST00000229633.5 ENST00000229633.6 HINT3_HUMAN NM_138571 Q8N0Y9 Q9NQE9 uc003qal.1 uc003qal.2 uc003qal.3 uc003qal.4 uc003qal.5 uc003qal.6 Histidine triad proteins, such as HINT3, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM, Mar 2008]. ##Evidence-Data-START## Transcript exon combination :: BX647228.1, SRR1660807.176584.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000229633.7/ ENSP00000229633.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Hydrolyzes phosphoramidate and acyl-adenylate substrates. Kinetic parameters: KM=1.5 uM for indolepropinoic acyl-adenylate; KM=22 uM for adenine; KM=29 uM for guanine; KM=32 uM for hypoxanthine; KM=121 uM for uracil; KM=181 uM for cytosine; Note=HINT3 prefers purine over pyrimidine-based substrates; Forms dimers to octamers and even larger oligomer. Cytoplasm. Nucleus. Note=Localized as aggregates in the cytoplasm and the nucleus. Belongs to the HINT family. Contains 1 HIT domain. nucleotide binding catalytic activity nucleus cytoplasm hydrolase activity identical protein binding protein homodimerization activity protein homotetramerization uc003qal.1 uc003qal.2 uc003qal.3 uc003qal.4 uc003qal.5 uc003qal.6 
ENST00000229708.4 ULBP1 ENST00000229708.4 Homo sapiens UL16 binding protein 1 (ULBP1), transcript variant 3, non-coding RNA. (from RefSeq NR_133659) ENST00000229708.1 ENST00000229708.2 ENST00000229708.3 N2DL1 N2DL1_HUMAN NR_133659 Q5VY81 Q8IZW3 Q8IZX6 Q9BZM6 RAET1I uc003qnp.1 uc003qnp.2 uc003qnp.3 uc003qnp.4 uc003qnp.5 uc003qnp.6 The protein encoded by this gene is a ligand of natural killer group 2, member D (NKG2D), an immune system-activating receptor on NK cells and T-cells. Binding of the encoded ligand to NKG2D leads to activation of several signal transduction pathways, including those of JAK2, STAT5, ERK and PI3K kinase/Akt. Also, in cytomegalovirus-infected cells, this ligand binds the UL16 glycoprotein and is prevented from activating the immune system. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]. Ligand for the NKG2D receptor, together with at least ULBP2 and ULBP3. ULBPs activate multiple signaling pathways in primary NK cells, resulting in the production of cytokines and chemokines. Binding of ULBPs ligands to NKG2D induces calcium mobilization and activation of the JAK2, STAT5, ERK and PI3K kinase/Akt signal transduction pathway. In CMV infected cells, interacts with soluble CMV glycoprotein UL16. The interaction with UL16 blocked the interaction with the NKG2D receptor, providing a mechanism by which CMV infected cells might escape the immune system. UL16 also causes ULBP1 to be retained in the ER and cis- Golgi apparatus so that it does not reach the cell surface. Interacts with the CMV glycoprotein UL16. Does not bind to beta2-microglobulin. Cell membrane; Lipid-anchor, GPI-anchor. Endoplasmic reticulum. Note=Detected intracellularly in the endoplasmic reticulum of CMV-infected fibroblasts. Expressed in T-cells, B-cells, erythroleukemia cell lines and in a wide range of tissues including heart, brain, lung, liver, testis, lymph node, thymus, tonsil and bone marrow. Also found in fetal heart, brain, lung and liver. The ULBPs are unusual members of the extended MHC class I superfamily, because they do not contain the alpha 3 domain and they lack a transmembrane domain. They are unlikely to present peptides. Belongs to the MHC class I family. immune system process protein binding extracellular space endoplasmic reticulum cytosol plasma membrane immune response external side of plasma membrane actin cytoskeleton membrane viral process natural killer cell activation anchored component of membrane natural killer cell mediated cytotoxicity anchored component of plasma membrane natural killer cell lectin-like receptor binding regulation of immune response uc003qnp.1 uc003qnp.2 uc003qnp.3 uc003qnp.4 uc003qnp.5 uc003qnp.6 
ENST00000229725.4 NEU1 ENST00000229725.4 Homo sapiens neuraminidase 1 (NEU1), mRNA. (from RefSeq NM_000434) ENST00000229725.1 ENST00000229725.2 ENST00000229725.3 NANH NEUR1_HUMAN NM_000434 Q99519 uc302whk.1 The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660807.50482.1, SRR1803611.166177.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000375631.5/ ENSP00000364782.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Catalyzes the removal of sialic acid (N-acetylneuramic acid) moities from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage. Hydrolysis of alpha-(2->3)-, alpha-(2->6)-, alpha-(2->8)- glycosidic linkages of terminal sialic acid residues in oligosaccharides, glycoproteins, glycolipids, colominic acid and synthetic substrates. pH dependence: Optimum pH is 4.6; Interacts with cathepsin A (protective protein), beta- galactosidase and N-acetylgalactosamine-6-sulfate sulfatase in a multienzyme complex. Lysosome membrane; Peripheral membrane protein; Lumenal side. Lysosome lumen. Cell membrane. Cytoplasmic vesicle. Note=Localized not only on the inner side of the lysosomal membrane and in the lysosomal lumen, but also on the plasma membrane and in intracellular vesicles. Highly expressed in pancreas, followed by skeletal muscle, kidney, placenta, heart, lung and liver. Weakly expressed in brain. A C-terminal internalization signal (YGTL) appears to allow the targeting of plasma membrane proteins to endosomes. N-glycosylated. Phosphorylation of tyrosine within the internalization signal results in inhibition of sialidase internalization and blockage on the plasma membrane. Defects in NEU1 are the cause of sialidosis (SIALIDOSIS) [MIM:256550]. It is a lysosomal storage disease occurring as two types with various manifestations. Type 1 sialidosis (cherry red spot-myoclonus syndrome or normosomatic type) is late-onset and it is characterized by the formation of cherry red macular spots in childhood, progressive debilitating myoclonus, insiduous visual loss and rarely ataxia. The diagnosis can be confirmed by the screening of the urine for sialyloligosaccharides. Type 2 sialidosis (also known as dysmorphic type) occurs as several variants of increasing severity with earlier age of onset. It is characterized by the presence of abnormal somatic features including coarse facies and dysostosis multiplex, vertebral deformities, mental retardation, cherry-red spot/myoclonus, sialuria, cytoplasmic vacuolation of peripheral lymphocytes, bone marrow cells and conjunctival epithelial cells. Belongs to the glycosyl hydrolase 33 family. Contains 4 BNR repeats. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NEU1"; Name=Wikipedia; Note=Neuraminidase entry; URL="http://en.wikipedia.org/wiki/Neuraminidase"; exo-alpha-sialidase activity protein binding extracellular region cytoplasm lysosome lysosomal membrane plasma membrane carbohydrate metabolic process lipid metabolic process glycosphingolipid metabolic process ganglioside catabolic process metabolic process oligosaccharide catabolic process membrane lipid catabolic process hydrolase activity hydrolase activity, acting on glycosyl bonds alpha-sialidase activity cell junction cytoplasmic vesicle specific granule lumen lysosomal lumen intracellular membrane-bounded organelle neutrophil degranulation exo-alpha-(2->3)-sialidase activity exo-alpha-(2->6)-sialidase activity exo-alpha-(2->8)-sialidase activity extracellular exosome uc302whk.1 
ENST00000229729.11 SLC44A4 ENST00000229729.11 Homo sapiens solute carrier family 44 member 4 (SLC44A4), transcript variant 1, mRNA. (from RefSeq NM_025257) A2BED3 B0UXX8 B0UZY8 C6orf29 CTL4 CTL4_HUMAN ENST00000229729.1 ENST00000229729.10 ENST00000229729.2 ENST00000229729.3 ENST00000229729.4 ENST00000229729.5 ENST00000229729.6 ENST00000229729.7 ENST00000229729.8 ENST00000229729.9 NG22 NM_025257 Q53GD3 Q5JP84 Q5JQ93 Q658S8 Q6UX89 Q8TEW4 Q96C58 Q96K59 Q9Y332 UNQ441/PRO874 uc010jti.1 uc010jti.2 uc010jti.3 uc010jti.4 uc010jti.5 The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]. Membrane; Multi-pass membrane protein (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q53GD3-1; Sequence=Displayed; Name=2; IsoId=Q53GD3-2; Sequence=VSP_030998; Note=No experimental confirmation available; Note=An interstitial deletion causing the fusion of exon 10 of CTL4 with the 3'-UTR of NEU has been detected in two patients affected by sialidosis. Belongs to the CTL (choline transporter-like) family. plasma membrane phosphatidylcholine biosynthetic process acetylcholine biosynthetic process choline transmembrane transporter activity choline transport membrane integral component of membrane apical plasma membrane positive regulation of cell growth thiamine pyrophosphate transport otolith formation neuromast hair cell development transmembrane transport acetylcholine secretion extracellular exosome thiamine pyrophosphate transporter activity uc010jti.1 uc010jti.2 uc010jti.3 uc010jti.4 uc010jti.5 
ENST00000229758.8 FBXO5 ENST00000229758.8 Homo sapiens F-box protein 5 (FBXO5), transcript variant 1, mRNA. (from RefSeq NM_012177) B3KNX5 EMI1 ENST00000229758.1 ENST00000229758.2 ENST00000229758.3 ENST00000229758.4 ENST00000229758.5 ENST00000229758.6 ENST00000229758.7 FBX5 FBX5_HUMAN NM_012177 Q5TF47 Q8WV29 Q9UGC8 Q9UKT4 uc003qpg.1 uc003qpg.2 uc003qpg.3 uc003qpg.4 uc003qpg.5 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. This protein is similar to xenopus early mitotic inhibitor-1 (Emi1), which is a mitotic regulator that interacts with Cdc20 and inhibits the anaphase promoting complex. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Dec 2008]. Regulates progression through early mitosis by inhibiting the anaphase promoting complex/cyclosome (APC). Binds to the APC activators CDC20 and FZR1/CDH1 to prevent APC activation. Can also bind directly to the APC to inhibit substrate-binding. Part of a SCF (SKP1-cullin-F-box) protein ligase complex (By similarity). Interacts with BTRC, FZR1/CDH1 and the N-terminal substrate-binding domain of CDC20. Also interacts with EVI5 which blocks its phosphorylation by PLK1 and prevents its subsequent binding to BTRC and degradation. P30260:CDC27; NbExp=2; IntAct=EBI-852298, EBI-994813; O60447:EVI5; NbExp=6; IntAct=EBI-852298, EBI-852291; Nucleus. Cytoplasm. Cytoplasm, cytoskeleton, spindle. Note=In interphase, localizes in a punctate manner in the nucleus and cytoplasm with some perinuclear concentration. In mitotic cells, localizes throughout the cell, particularly at the spindle. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UKT4-1; Sequence=Displayed; Name=2; IsoId=Q9UKT4-2; Sequence=VSP_041362; Accumulates in late G1 phase, levels rise during S phase and drop in early mitosis. The C-terminal region is required for inhibition of APC activity. Phosphorylation by CDK2 and subsequently by PLK1 triggers degradation during early mitosis through ubiquitin-mediated proteolysis by the SCF ubiquitin ligase complex containing the F- box protein BTRC. This degradation is necessary for the activation of APC in late mitosis and subsequent mitotic progression. Ubiquitinated by the by the SCF(BTRC) complex following phosphorylation by PLK1. Contains 1 F-box domain. Contains 1 IBR-type zinc finger. regulation of transcription involved in G1/S transition of mitotic cell cycle oocyte maturation protein binding nucleus nucleoplasm cytoplasm spindle cytosol cytoskeleton regulation of DNA replication cell cycle spindle assembly involved in female meiosis I regulation of mitotic cell cycle positive regulation of cell proliferation positive regulation of G2/M transition of mitotic cell cycle anaphase-promoting complex binding vesicle organization protein ubiquitination protein kinase binding anaphase-promoting complex-dependent catabolic process negative regulation of DNA endoreduplication regulation of meiotic nuclear division positive regulation of osteoblast differentiation negative regulation of meiotic nuclear division negative regulation of mitotic metaphase/anaphase transition microtubule polymerization metal ion binding spindle assembly cell division negative regulation of ubiquitin-protein transferase activity positive regulation of biomineral tissue development meiotic spindle regulation of mitotic cell cycle phase transition negative regulation of ubiquitin protein ligase activity positive regulation of mesenchymal stem cell migration ubiquitin ligase inhibitor activity negative regulation of cellular senescence negative regulation of response to DNA damage stimulus uc003qpg.1 uc003qpg.2 uc003qpg.3 uc003qpg.4 uc003qpg.5 
ENST00000229769.3 FANCE ENST00000229769.3 Homo sapiens FA complementation group E (FANCE), mRNA. (from RefSeq NM_021922) A8K907 ENST00000229769.1 ENST00000229769.2 FACE FANCE_HUMAN NM_021922 Q4ZGH2 Q9HB96 uc003oko.1 uc003oko.2 uc003oko.3 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group E. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF265210.1, BC046359.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000229769.3/ ENSP00000229769.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair. Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. Interacts with FANCC and FANCD2. Q00597:FANCC; NbExp=3; IntAct=EBI-396803, EBI-81625; Q9BXW9:FANCD2; NbExp=4; IntAct=EBI-396803, EBI-359343; Nucleus. Phosphorylated. Phosphorylation by CHEK1 at Thr-346 and Ser- 374 regulates its function in DNA cross-links repair. Ubiquitinated. Phosphorylation by CHEK1 induces polyubiquitination and degradation. Defects in FANCE are a cause of Fanconi anemia complementation group E (FANCE) [MIM:600901]. A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/FANCEID293.html"; Name=Fanconi Anemia Mutation Database; URL="http://www.rockefeller.edu/fanconi/mutate/jumpe.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FANCE"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/fance/"; molecular_function nucleus nucleoplasm DNA repair cellular response to DNA damage stimulus interstrand cross-link repair Fanconi anaemia nuclear complex uc003oko.1 uc003oko.2 uc003oko.3 
ENST00000229771.11 TULP1 ENST00000229771.11 Homo sapiens TUB like protein 1 (TULP1), transcript variant 1, mRNA. (from RefSeq NM_003322) ENST00000229771.1 ENST00000229771.10 ENST00000229771.2 ENST00000229771.3 ENST00000229771.4 ENST00000229771.5 ENST00000229771.6 ENST00000229771.7 ENST00000229771.8 ENST00000229771.9 NM_003322 O00294 O43536 Q5TGM5 Q8N571 TUBL1 TULP1_HUMAN uc003okv.1 uc003okv.2 uc003okv.3 uc003okv.4 uc003okv.5 uc003okv.6 uc003okv.7 This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. The protein encoded by this gene is thought to play a role in the physiology of photoreceptors. Mutations in this gene are associated with recessive juvenile retinitis pigmentosa and Leber congenital amaurosis-15. [provided by RefSeq, Nov 2016]. Required for normal development of photoreceptor synapses. Required for normal photoreceptor function and for long- term survival of photoreceptor cells. Interacts with cytoskeleton proteins and may play a role in protein transport in photoreceptor cells (By similarity). Binds lipids, especially phosphatidylinositol 3-phosphate, phosphatidylinositol 4- phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-bisphosphate, phosphatidylserine and phosphatidic acid (in vitro). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages. Homodimer (Probable). May interact with ABCF1, PSIP1, ZEB1 and HMGB2 (Potential). Interacts with DNM1 (By similarity). Interacts with F-actin. Interacts with TUB (By similarity). P16333:NCK1; NbExp=2; IntAct=EBI-1756778, EBI-389883; Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Secreted (By similarity). Cell junction, synapse (By similarity). Note=Detected at synapses between photoreceptor cells and second-order neurons. Does not have a cleavable signal peptide and is secreted by an alternative pathway (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O00294-1; Sequence=Displayed; Name=2; IsoId=O00294-2; Sequence=VSP_023031; Retina-specific. Defects in TULP1 are the cause of retinitis pigmentosa type 14 (RP14) [MIM:600132]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP14 inheritance is autosomal recessive. Defects in TULP1 are the cause of Leber congenital amaurosis type 15 (LCA15) [MIM:613843]. LCA15 is a severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. Belongs to the TUB family. Sequence=CAI20251.1; Type=Erroneous gene model prediction; Name=Mutations of the TULP1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/tulpmut.htm"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TULP1"; photoreceptor outer segment retina homeostasis photoreceptor inner segment protein binding phosphatidylinositol-4,5-bisphosphate binding extracellular region cytoplasm cytosol plasma membrane cilium phagocytosis phagocytosis, recognition visual perception membrane vesicle-mediated transport dendrite development cell junction eye photoreceptor cell development cell projection axon terminus synapse photoreceptor cell maintenance positive regulation of phagocytosis response to stimulus detection of light stimulus involved in visual perception actin filament binding retina development in camera-type eye protein localization to cilium protein localization to photoreceptor outer segment uc003okv.1 uc003okv.2 uc003okv.3 uc003okv.4 uc003okv.5 uc003okv.6 uc003okv.7 
ENST00000229794.9 MAPK14 ENST00000229794.9 Homo sapiens mitogen-activated protein kinase 14 (MAPK14), transcript variant 2, mRNA. (from RefSeq NM_139012) A6ZJ92 A8K6P4 B0LPH0 CSBP CSBP1 CSBP2 CSPB1 ENST00000229794.1 ENST00000229794.2 ENST00000229794.3 ENST00000229794.4 ENST00000229794.5 ENST00000229794.6 ENST00000229794.7 ENST00000229794.8 MK14_HUMAN MXI2 NM_139012 O60776 Q13083 Q14084 Q16539 Q8TDX0 SAPK2A uc003olq.1 uc003olq.2 uc003olq.3 uc003olq.4 uc003olq.5 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor p53, which suggest the roles of this kinase in stress related transcription and cell cycle regulation, as well as in genotoxic stress response. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK14 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. Some of the targets are downstream kinases which are activated through phosphorylation and further phosphorylate additional targets. RPS6KA5/MSK1 and RPS6KA4/MSK2 can directly phosphorylate and activate transcription factors such as CREB1, ATF1, the NF-kappa-B isoform RELA/NFKB3, STAT1 and STAT3, but can also phosphorylate histone H3 and the nucleosomal protein HMGN1. RPS6KA5/MSK1 and RPS6KA4/MSK2 play important roles in the rapid induction of immediate-early genes in response to stress or mitogenic stimuli, either by inducing chromatin remodeling or by recruiting the transcription machinery. On the other hand, two other kinase targets, MAPKAPK2/MK2 and MAPKAPK3/MK3, participate in the control of gene expression mostly at the post-transcriptional level, by phosphorylating ZFP36 (tristetraprolin) and ELAVL1, and by regulating EEF2K, which is important for the elongation of mRNA during translation. MKNK1/MNK1 and MKNK2/MNK2, two other kinases activated by p38 MAPKs, regulate protein synthesis by phosphorylating the initiation factor EIF4E2. MAPK14 interacts also with casein kinase II, leading to its activation through autophosphorylation and further phosphorylation of TP53/p53. In the cytoplasm, the p38 MAPK pathway is an important regulator of protein turnover. For example, CFLAR is an inhibitor of TNF- induced apoptosis whose proteasome-mediated degradation is regulated by p38 MAPK phosphorylation. In a similar way, MAPK14 phosphorylates the ubiquitin ligase SIAH2, regulating its activity towards EGLN3. MAPK14 may also inhibit the lysosomal degradation pathway of autophagy by interfering with the intracellular trafficking of the transmembrane protein ATG9. Another function of MAPK14 is to regulate the endocytosis of membrane receptors by different mechanisms that impinge on the small GTPase RAB5A. In addition, clathrin-mediated EGFR internalization induced by inflammatory cytokines and UV irradiation depends on MAPK14- mediated phosphorylation of EGFR itself as well as of RAB5A effectors. Ectodomain shedding of transmembrane proteins is regulated by p38 MAPKs as well. In response to inflammatory stimuli, p38 MAPKs phosphorylate the membrane-associated metalloprotease ADAM17. Such phosphorylation is required for ADAM17-mediated ectodomain shedding of TGF-alpha family ligands, which results in the activation of EGFR signaling and cell proliferation. Another p38 MAPK substrate is FGFR1. FGFR1 can be translocated from the extracellular space into the cytosol and nucleus of target cells, and regulates processes such as rRNA synthesis and cell growth. FGFR1 translocation requires p38 MAPK activation. In the nucleus, many transcription factors are phosphorylated and activated by p38 MAPKs in response to different stimuli. Classical examples include ATF1, ATF2, ATF6, ELK1, PTPRH, DDIT3, TP53/p53 and MEF2C and MEF2A. The p38 MAPKs are emerging as important modulators of gene expression by regulating chromatin modifiers and remodelers. The promoters of several genes involved in the inflammatory response, such as IL6, IL8 and IL12B, display a p38 MAPK-dependent enrichment of histone H3 phosphorylation on 'Ser-10' (H3S10ph) in LPS-stimulated myeloid cells. This phosphorylation enhances the accessibility of the cryptic NF- kappa-B-binding sites marking promoters for increased NF-kappa-B recruitment. Phosphorylates CDC25B and CDC25C which is required for binding to 14-3-3 proteins and leads to initiation of a G2 delay after ultraviolet radiation. Phosphorylates TIAR following DNA damage, releasing TIAR from GADD45A mRNA and preventing mRNA degradation. The p38 MAPKs may also have kinase-independent roles, which are thought to be due to the binding to targets in the absence of phosphorylation. Protein O-Glc-N-acylation catalyzed by the OGT is regulated by MAPK14, and, although OGT does not seem to be phosphorylated by MAPK14, their interaction increases upon MAPK14 activation induced by glucose deprivation. This interaction may regulate OGT activity by recruiting it to specific targets such as neurofilament H, stimulating its O-Glc-N-acylation. Required in mid-fetal development for the growth of embryo-derived blood vessels in the labyrinth layer of the placenta. Also plays an essential role in developmental and stress-induced erythropoiesis, through regulation of EPO gene expression. Isoform MXI2 activation is stimulated by mitogens and oxidative stress and only poorly phosphorylates ELK1 and ATF2. Isoform EXIP may play a role in the early onset of apoptosis. Phosphorylates S100A9 at 'Thr-113'. ATP + a protein = ADP + a phosphoprotein. Magnesium. Activated by cell stresses such as DNA damage, heat shock, osmotic shock, anisomycin and sodium arsenite, as well as pro-inflammatory stimuli such as bacterial lipopolysaccharide (LPS) and interleukin-1. Activation occurs through dual phosphorylation of Thr-180 and Tyr-182 by either of two dual specificity kinases, MAP2K3/MKK3 or MAP2K6/MKK6, and potentially also MAP2K4/MKK4, as well as by TAB1-mediated autophosphorylation. MAPK14 phosphorylated on both Thr-180 and Tyr-182 is 10-20-fold more active than MAPK14 phosphorylated only on Thr-180, whereas MAPK14 phosphorylated on Tyr-182 alone is inactive. whereas Thr- 180 is necessary for catalysis, Tyr-182 may be required for auto- activation and substrate recognition. Phosphorylated at Tyr-323 by ZAP70 in an alternative activation pathway in response to TCR signaling in T-cells. This alternative pathway is inhibited by GADD45A. Inhibited by dual specificity phosphatases, such as DUSP1, DUSP10, and DUSP16. Specifically inhibited by the binding of pyridinyl-imidazole compounds, which are cytokine-suppressive anti-inflammatory drugs (CSAID). Isoform Mxi2 is 100-fold less sensitive to these agents than the other isoforms and is not inhibited by DUSP1. Isoform Exip is not activated by MAP2K6. SB203580 is an inhibitor of MAPK14. Binds to a kinase interaction motif within the protein tyrosine phosphatase, PTPRR (By similarity). This interaction retains MAPK14 in the cytoplasm and prevents nuclear accumulation (By similarity). Interacts with SPAG9 and GADD45A (By similarity). Interacts with CDC25B, CDC25C, DUSP1, DUSP10, DUSP16, NP60, FAM48A and TAB1. Interacts with casein kinase II subunits CSNK2A1 and CSNK2B. Q8NEM7:FAM48A; NbExp=5; IntAct=EBI-73946, EBI-946984; P49137:MAPKAPK2; NbExp=2; IntAct=EBI-73946, EBI-993299; P06400:RB1; NbExp=3; IntAct=EBI-73946, EBI-491274; O75676:RPS6KA4; NbExp=2; IntAct=EBI-73946, EBI-73933; Q92574:TSC1; NbExp=2; IntAct=EBI-73946, EBI-1047085; Q07352:ZFP36L1; NbExp=2; IntAct=EBI-73946, EBI-721823; Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=4; Name=CSBP2; IsoId=Q16539-1; Sequence=Displayed; Name=CSBP1; IsoId=Q16539-2; Sequence=VSP_004842; Name=Mxi2; IsoId=Q16539-3; Sequence=VSP_004844; Name=Exip; Synonyms=Exon skip; IsoId=Q16539-4; Sequence=VSP_004843, VSP_004845; Brain, heart, placenta, pancreas and skeletal muscle. Expressed to a lesser extent in lung, liver and kidney. The TXY motif contains the threonine and tyrosine residues whose phosphorylation activates the MAP kinases. Dually phosphorylated on Thr-180 and Tyr-182 by the MAP2Ks MAP2K3/MKK3, MAP2K4/MKK4 and MAP2K6/MKK6 in response to inflammatory citokines, environmental stress or growth factors, which a ctivates the enzyme. Dual phosphorylation can also be mediated by TAB1-mediated autophosphorylation. TCR engagement in T-cells also leads to Tyr-323 phosphorylation by ZAP70. Dephosphorylated and inactivated by DUPS1, DUSP10 and DUSP16. Acetylated at Lys-53 and Lys-152 by KAT2B and EP300. Acetylation at Lys-53 increases the affinity for ATP and enhances kinase activity. Lys-53 and Lys-152 are deacetylated by HDAC3. Ubiquitinated. Ubiquitination leads to degradation by the proteasome pathway. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily. Contains 1 protein kinase domain. Name=Wikipedia; Note=P38 mitogen-activated protein kinases entry; URL="http://en.wikipedia.org/wiki/P38_mitogen-activated_protein_kinases"; DNA damage checkpoint nucleotide binding activation of MAPK activity cell morphogenesis spindle pole cartilage condensation angiogenesis placenta development chondrocyte differentiation positive regulation of cytokine secretion involved in immune response protein kinase activity protein serine/threonine kinase activity MAP kinase activity MAP kinase kinase activity protein binding ATP binding extracellular region cell nucleus nucleoplasm cytoplasm mitochondrion cytosol glucose metabolic process regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter protein phosphorylation apoptotic process chemotaxis cellular response to DNA damage stimulus signal transduction cell surface receptor signaling pathway transmembrane receptor protein serine/threonine kinase signaling pathway Ras protein signal transduction skeletal muscle tissue development regulation of gene expression positive regulation of gene expression positive regulation of macrophage chemotaxis positive regulation of myotube differentiation kinase activity phosphorylation nuclear speck transferase activity peptidyl-serine phosphorylation fatty acid oxidation enzyme binding protein phosphatase binding regulation of ossification osteoclast differentiation positive regulation of cyclase activity lipopolysaccharide-mediated signaling pathway response to muramyl dipeptide response to lipopolysaccharide secretory granule lumen intracellular signal transduction cellular response to vascular endothelial growth factor stimulus response to muscle stretch p38MAPK cascade positive regulation of protein import into nucleus signal transduction in response to DNA damage neutrophil degranulation positive regulation of erythrocyte differentiation positive regulation of myoblast differentiation positive regulation of transcription from RNA polymerase II promoter positive regulation of glucose import vascular endothelial growth factor receptor signaling pathway mitogen-activated protein kinase p38 binding regulation of sequence-specific DNA binding transcription factor activity striated muscle cell differentiation positive regulation of muscle cell differentiation NFAT protein binding positive regulation of cardiac muscle cell proliferation 3'-UTR-mediated mRNA stabilization cellular response to lipopolysaccharide cellular response to lipoteichoic acid cellular response to tumor necrosis factor cellular response to ionizing radiation negative regulation of canonical Wnt signaling pathway positive regulation of brown fat cell differentiation stress-induced premature senescence cellular response to virus glutamatergic synapse regulation of cytokine production involved in inflammatory response positive regulation of myoblast fusion regulation of signal transduction by p53 class mediator ficolin-1-rich granule lumen positive regulation of metallopeptidase activity positive regulation of reactive oxygen species metabolic process positive regulation of interleukin-12 secretion positive regulation of blood vessel endothelial cell migration uc003olq.1 uc003olq.2 uc003olq.3 uc003olq.4 uc003olq.5 
ENST00000229812.8 STK38 ENST00000229812.8 Homo sapiens serine/threonine kinase 38 (STK38), transcript variant 1, mRNA. (from RefSeq NM_007271) ENST00000229812.1 ENST00000229812.2 ENST00000229812.3 ENST00000229812.4 ENST00000229812.5 ENST00000229812.6 ENST00000229812.7 NDR1 NM_007271 Q15208 Q503A1 STK38_HUMAN uc003omh.1 uc003omh.2 uc003omh.3 uc003omh.4 This gene encodes a member of the AGC serine/threonine kinase family of proteins. The kinase activity of this protein is regulated by autophosphorylation and phosphorylation by other upstream kinases. This protein has been shown to function in the cell cycle and apoptosis. This protein has also been found to regulate the protein stability and transcriptional activity of the MYC oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]. Negative regulator of MAP3K1/2 signaling. Converts MAP3K2 from its phosphorylated form to its non-phosphorylated form and inhibits autophosphorylation of MAP3K2. ATP + a protein = ADP + a phosphoprotein. Magnesium. Activated by binding of S100B which releases autoinhibitory N-lobe interactions, enabling ATP to bind and the autophosphorylation of Ser-281. Thr-444 then undergoes calcium- dependent phosphorylation by STK24/MST3. Interactions between phosphorylated Thr-444 and the N-lobe promote additional structural changes that complete the activation of the kinase. Autoinhibition is also released by the binding of MOB1/MOBKL1A and MOB2/HCCA2 to the N-terminal of STK38. Interacts with MICAL1; leading to inhibit the protein kinase activity by antagonizing activation by MST1/STK4 (By similarity). Homodimeric S100B binds two molecules of STK38. Component of the MLL5-L complex, at least composed of MLL5, STK38, PPP1CA, PPP1CB, PPP1CC, HCFC1, ACTB and OGT. Interacts with MOB1 and MOB2. Interacts with MAP3K1 and MAP3K2 (via the kinase catalytic domain). Forms a tripartite complex with MOBKL1B and STK3/MST2. P49407:ARRB1; NbExp=3; IntAct=EBI-458376, EBI-743313; P32121:ARRB2; NbExp=3; IntAct=EBI-458376, EBI-714559; Q9H8S9:MOB1A; NbExp=2; IntAct=EBI-458376, EBI-748229; P02638:S100B (xeno); NbExp=3; IntAct=EBI-458376, EBI-458452; Nucleus. Cytoplasm. Ubiquitously expressed with highest levels observed in peripheral blood leukocytes. ISGylated (Probable). Phosphorylated by STK3/MST2 and this is enhanced by MOBKL1B. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. Contains 1 AGC-kinase C-terminal domain. Contains 1 protein kinase domain. nucleotide binding magnesium ion binding protein kinase activity protein serine/threonine kinase activity protein binding ATP binding nucleus cytoplasm cytosol cellular protein modification process protein phosphorylation kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation mitogen-activated protein kinase kinase kinase binding intracellular signal transduction negative regulation of MAP kinase activity cadherin binding metal ion binding uc003omh.1 uc003omh.2 uc003omh.3 uc003omh.4 
ENST00000229829.7 HLA-DOA ENST00000229829.7 Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA. (from RefSeq NM_002119) ENST00000229829.1 ENST00000229829.2 ENST00000229829.3 ENST00000229829.4 ENST00000229829.5 ENST00000229829.6 NM_002119 X5CF87 uc003ocr.1 uc003ocr.2 uc003ocr.3 uc003ocr.4 uc003ocr.5 HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide loading on MHC class II molecules. In comparison with classical HLA class II molecules, this gene exhibits very little sequence variation, especially at the protein level. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.110203.1, BC013183.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000229829.7/ ENSP00000229829.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## uc003ocr.1 uc003ocr.2 uc003ocr.3 uc003ocr.4 uc003ocr.5 
ENST00000229903.5 SAYSD1 ENST00000229903.5 Homo sapiens SAYSVFN motif domain containing 1 (SAYSD1), transcript variant 1, mRNA. (from RefSeq NM_018322) C6orf64 ENST00000229903.1 ENST00000229903.2 ENST00000229903.3 ENST00000229903.4 NM_018322 Q9H0D8 Q9NPB0 SMDC1_HUMAN uc003ook.1 uc003ook.2 uc003ook.3 Cytoplasmic vesicle membrane; Single-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NPB0-1; Sequence=Displayed; Name=2; IsoId=Q9NPB0-2; Sequence=VSP_014597, VSP_014598; Note=No experimental confirmation available; membrane integral component of membrane cytoplasmic vesicle membrane cytoplasmic vesicle intracellular membrane-bounded organelle uc003ook.1 uc003ook.2 uc003ook.3 
ENST00000229922.7 CAP2 ENST00000229922.7 Homo sapiens cyclase associated actin cytoskeleton regulatory protein 2 (CAP2), transcript variant 1, mRNA. (from RefSeq NM_006366) B2R5Y3 CAP2_HUMAN ENST00000229922.1 ENST00000229922.2 ENST00000229922.3 ENST00000229922.4 ENST00000229922.5 ENST00000229922.6 NM_006366 P40123 Q6IAY2 uc003ncb.1 uc003ncb.2 uc003ncb.3 uc003ncb.4 uc003ncb.5 This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin. [provided by RefSeq, Jul 2008]. May have a regulatory bifunctional role. Cell membrane; Peripheral membrane protein (By similarity). Belongs to the CAP family. Contains 1 C-CAP/cofactor C-like domain. cell morphogenesis actin binding protein binding plasma membrane cytoskeleton organization establishment or maintenance of cell polarity signal transduction activation of adenylate cyclase activity actin polymerization or depolymerization adenylate cyclase binding postsynaptic density membrane cortical actin cytoskeleton identical protein binding uc003ncb.1 uc003ncb.2 uc003ncb.3 uc003ncb.4 uc003ncb.5 
ENST00000229955.4 GPR63 ENST00000229955.4 Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 2, mRNA. (from RefSeq NM_030784) ENST00000229955.1 ENST00000229955.2 ENST00000229955.3 GPR63_HUMAN NM_030784 PSP24B Q9BZJ6 Q9UJH3 uc003pou.1 uc003pou.2 uc003pou.3 uc003pou.4 uc003pou.5 This gene encodes a G protein-coupled receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]. Orphan receptor. May play a role in brain function. Cell membrane; Multi-pass membrane protein. Expressed in brain; detected in the frontal cortex, with lower levels in the thalamus, caudate, hypothalamus and midbrain. Belongs to the G-protein coupled receptor 1 family. molecular_function G-protein coupled receptor activity nucleus cytosol plasma membrane signal transduction G-protein coupled receptor signaling pathway biological_process membrane integral component of membrane receptor complex uc003pou.1 uc003pou.2 uc003pou.3 uc003pou.4 uc003pou.5 
ENST00000230036.2 GPLD1 ENST00000230036.2 Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), mRNA. (from RefSeq NM_001503) ENST00000230036.1 NM_001503 P80108 PHLD_HUMAN PIGPLD1 Q15127 Q15128 Q2M2F2 Q5T3Y0 Q7Z6T8 Q8TCV0 Q8WW82 Q96ID6 Q9H167 Q9H4M1 Q9UJC9 uc003ned.1 uc003ned.2 uc003ned.3 uc003ned.4 Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: L11702.1, AJ308108.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000230036.2/ ENSP00000230036.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## This protein hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans (GPI-anchor) thus releasing these proteins from the membrane. 6-(alpha-D-glucosaminyl)-1-phosphatidyl-1D- myo-inositol + H(2)O = 6-(alpha-D-glucosaminyl)-1D-myo-inositol + phosphatidate. Monomer (Potential). Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P80108-1; Sequence=Displayed; Name=2; IsoId=P80108-2; Sequence=VSP_023261, VSP_023262; Belongs to the GPLD1 family. Contains 7 FG-GAP repeats. Sequence=AAA36444.1; Type=Miscellaneous discrepancy; Note=This sequence has numerous of conflicts with the human genome; ossification cell migration involved in sprouting angiogenesis chondrocyte differentiation complement receptor mediated signaling pathway glycosylphosphatidylinositol phospholipase D activity phospholipase D activity extracellular region extracellular space cytoplasm lysosomal membrane C-terminal protein lipidation GPI anchor release negative regulation of cell proliferation insulin receptor signaling pathway response to glucose positive regulation of endothelial cell migration positive regulation of alkaline phosphatase activity positive regulation of triglyceride biosynthetic process negative regulation of triglyceride catabolic process positive regulation of glucose metabolic process positive regulation of high-density lipoprotein particle clearance hydrolase activity sodium channel regulator activity extracellular matrix cellular response to insulin stimulus cellular response to drug hematopoietic stem cell migration positive regulation of insulin secretion involved in cellular response to glucose stimulus positive regulation of apoptotic process intracellular membrane-bounded organelle positive regulation of cytolysis phosphatidylcholine metabolic process positive regulation of membrane protein ectodomain proteolysis positive regulation of secretion extracellular exosome transepithelial transport cellular response to calcium ion cellular response to cholesterol cellular response to triglyceride cellular response to pH hematopoietic stem cell migration to bone marrow regulation of cellular response to insulin stimulus uc003ned.1 uc003ned.2 uc003ned.3 uc003ned.4 
ENST00000230048.5 ACOT13 ENST00000230048.5 Homo sapiens acyl-CoA thioesterase 13 (ACOT13), transcript variant 1, mRNA. (from RefSeq NM_018473) ACO13_HUMAN ENST00000230048.1 ENST00000230048.2 ENST00000230048.3 ENST00000230048.4 HT012 NM_018473 O95549 PNAS-27 Q9NPJ3 THEM2 uc003nek.1 uc003nek.2 uc003nek.3 uc003nek.4 uc003nek.5 This gene encodes a member of the thioesterase superfamily. In humans, the protein co-localizes with microtubules and is essential for sustained cell proliferation. The orthologous mouse protein forms a homotetramer and is associated with mitochondria. The mouse protein functions as a medium- and long-chain acyl-CoA thioesterase. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2009]. Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Has acyl-CoA thioesterase activity towards medium (C12) and long-chain (C18) fatty acyl-CoA substrates. Can also hydrolyze 3- hydroxyphenylacetyl-CoA and 3,4-dihydrohyphenylacetyl-CoA (in vitro). Kinetic parameters: KM=4.9 uM for n-decanoyl-CoA; KM=26 uM for n-octanoyl-CoA; KM=5 uM for myristoyl-CoA; KM=9 uM for palmitoyl-CoA; KM=9 uM for oleoyl-CoA; KM=10 uM for 3,4-dihydrohyphenylacetyl-CoA; KM=40 uM for 3-hydrohyphenylacetyl-CoA; Homotetramer. Cytoplasm (By similarity). Mitochondrion (By similarity). Belongs to the thioesterase PaaI family. nucleus cytoplasm mitochondrion spindle cytosol cytoskeleton acyl-CoA metabolic process hydrolase activity acyl-CoA hydrolase activity protein homotetramerization uc003nek.1 uc003nek.2 uc003nek.3 uc003nek.4 uc003nek.5 
ENST00000230050.4 RPS12 ENST00000230050.4 Homo sapiens ribosomal protein S12 (RPS12), mRNA. (from RefSeq NM_001016) ENST00000230050.1 ENST00000230050.2 ENST00000230050.3 NM_001016 P25398 Q76M58 RS12_HUMAN uc003qdx.1 uc003qdx.2 uc003qdx.3 uc003qdx.4 uc003qdx.5 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S12E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal cancers compared to matched normal colonic mucosa has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BJ990964.1, BM742041.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000230050.4/ ENSP00000230050.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Cytoplasm. Belongs to the ribosomal protein S12e family. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay RNA binding structural constituent of ribosome nucleoplasm cytoplasm Golgi apparatus cytosol ribosome translation translational initiation SRP-dependent cotranslational protein targeting to membrane membrane viral transcription cytosolic small ribosomal subunit intracellular membrane-bounded organelle uc003qdx.1 uc003qdx.2 uc003qdx.3 uc003qdx.4 uc003qdx.5 
ENST00000230053.11 B3GAT2 ENST00000230053.11 Homo sapiens beta-1,3-glucuronyltransferase 2 (B3GAT2), mRNA. (from RefSeq NM_080742) B3GA2_HUMAN ENST00000230053.1 ENST00000230053.10 ENST00000230053.2 ENST00000230053.3 ENST00000230053.4 ENST00000230053.5 ENST00000230053.6 ENST00000230053.7 ENST00000230053.8 ENST00000230053.9 GLCATS KIAA1963 NM_080742 Q5JS09 Q8TF38 Q96NK4 Q9NPZ5 uc003pfv.1 uc003pfv.2 uc003pfv.3 uc003pfv.4 uc003pfv.5 The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB075843.1, SRR1803615.173590.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000230053.11/ ENSP00000230053.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on both glycolipids and glycoproteins (By similarity). UDP-glucuronate + 3-beta-D-galactosyl-4-beta- D-galactosyl-O-beta-D-xylosylprotein = UDP + 3-beta-D- glucuronosyl-3-beta-D-galactosyl-4-beta-D-galactosyl-O-beta-D- xylosylprotein. Manganese. Protein modification; protein glycosylation. Homodimer (Potential). Golgi apparatus membrane; Single-pass type II membrane protein. Expressed in the trachea, retina, spinal cord, hippocampus and other brain regions, and, at lower levels, in testis and ovary. Belongs to the glycosyltransferase 43 family. Sequence=BAB70889.1; Type=Erroneous initiation; Sequence=BAB85549.1; Type=Erroneous initiation; Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; Golgi membrane Golgi apparatus protein glycosylation galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity membrane integral component of membrane transferase activity glycosaminoglycan metabolic process metal ion binding chondroitin sulfate proteoglycan biosynthetic process uc003pfv.1 uc003pfv.2 uc003pfv.3 uc003pfv.4 uc003pfv.5 
ENST00000230085.13 SNX3 ENST00000230085.13 Homo sapiens sorting nexin 3 (SNX3), transcript variant 1, mRNA. (from RefSeq NM_003795) A8K0B1 E1P5E4 E1P5E5 ENST00000230085.1 ENST00000230085.10 ENST00000230085.11 ENST00000230085.12 ENST00000230085.2 ENST00000230085.3 ENST00000230085.4 ENST00000230085.5 ENST00000230085.6 ENST00000230085.7 ENST00000230085.8 ENST00000230085.9 NM_003795 O60493 O60718 Q4TT29 Q4TT31 Q5JXJ7 Q5JXJ8 Q96AP9 Q9C0J5 Q9NU45 SNX3_HUMAN uc003psh.1 uc003psh.2 uc003psh.3 uc003psh.4 uc003psh.5 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like most family members. This protein interacts with phosphatidylinositol-3-phosphate, and is involved in protein trafficking. A pseudogene of this gene is present on the sex chromosomes. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]. Phosphoinositide-binding protein required for multivesicular body formation. Specifically binds phosphatidylinositol 3-phosphate (PtdIns(P3)). Plays a role in protein transport between cellular compartments. Promotes stability and cell surface expression of epithelial sodium channel (ENAC) subunits SCNN1A and SCNN1G (By similarity). Not involved in EGFR degradation. Interacts with USP10 and SCNN1A (By similarity). P46108:CRK; NbExp=2; IntAct=EBI-727209, EBI-886; Early endosome. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=O60493-1; Sequence=Displayed; Name=2; Synonyms=SNX 3A; IsoId=O60493-2; Sequence=VSP_006190; Name=3; IsoId=O60493-3; Sequence=VSP_012928; Note=No experimental confirmation available; Name=4; IsoId=O60493-4; Sequence=VSP_014694; Note=No experimental confirmation available; The PX domain mediates specific binding to phosphatidylinositol 3-phosphate (PtdIns(P3)). Ubiquitinated, leading to its proteasomal degradation. Deubiquitinated by USP10 (By similarity). A chromosomal aberration involving SNX3 may be a cause of microphthalmia syndromic type 8 (MCOPS8) [MIM:601349]. Translocation t(6;13)(q21;q12). Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS8 is a very rare congenital syndrome characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. Belongs to the sorting nexin family. Contains 1 PX (phox homology) domain. protein binding cytoplasm endosome early endosome cytosol lipid binding response to bacterium endosome membrane phosphatidylinositol-5-phosphate binding membrane invagination positive regulation of neuron projection development protein transport Wnt signaling pathway protein deubiquitination protein phosphatase binding protein to membrane docking regulation of Wnt signaling pathway clathrin-coated vesicle cytoplasmic vesicle early endosome membrane early phagosome phosphatidylinositol-3-phosphate binding phosphatidylinositol binding negative regulation of protein catabolic process phagocytic vesicle negative regulation of viral entry into host cell negative regulation of phagocytosis negative regulation of protein transport extracellular exosome phosphatidylinositol-4-phosphate binding intralumenal vesicle formation phosphatidylinositol-3,5-bisphosphate binding phosphatidylinositol phosphate binding negative regulation of early endosome to late endosome transport retromer complex uc003psh.1 uc003psh.2 uc003psh.3 uc003psh.4 uc003psh.5 
ENST00000230124.8 FIG4 ENST00000230124.8 Homo sapiens FIG4 phosphoinositide 5-phosphatase (FIG4), mRNA. (from RefSeq NM_014845) ENST00000230124.1 ENST00000230124.2 ENST00000230124.3 ENST00000230124.4 ENST00000230124.5 ENST00000230124.6 ENST00000230124.7 FIG4_HUMAN KIAA0274 NM_014845 Q53H49 Q5TCS6 Q92562 SAC3 uc003ptt.1 uc003ptt.2 uc003ptt.3 uc003ptt.4 The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK291671.1, D87464.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000230124.8/ ENSP00000230124.4 RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide substrates in the order PtdIns(4,5)P2 > PtdIns(3,5)P2 > PtdIns(3,4,5)P3. Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes. Component of the PI(3,5)P2 regulatory complex/PAS complex, at least composed of PIKFYVE, FIG4 and VAC14. VAC14 nucleates the assembly of the complex and serves as a scaffold. Endosome membrane. Note=Localization requires VAC14 and PIKFYVE. Defects in FIG4 are the cause of Charcot-Marie-Tooth disease type 4J (CMT4J) [MIM:611228]. CMT4J is a recessive demyelinating, severe form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. Defects in FIG4 are the cause of amyotrophic lateral sclerosis type 11 (ALS11) [MIM:612577]. ALS is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10%. Contains 1 SAC domain. Sequence=BAA13403.2; Type=Erroneous initiation; Golgi membrane phosphatidylinositol-3-phosphatase activity protein binding endosome endoplasmic reticulum Golgi apparatus lipid particle phosphatidylinositol biosynthetic process vacuole organization locomotory behavior endosome membrane positive regulation of neuron projection development membrane dephosphorylation hydrolase activity negative regulation of myelination early endosome membrane late endosome membrane myelin assembly phosphatidylinositol bisphosphate phosphatase activity phosphatidylinositol-3-phosphate biosynthetic process phosphoric ester hydrolase activity intracellular membrane-bounded organelle pigmentation phosphatidylinositol-4-phosphate phosphatase activity phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity phosphatidylinositol metabolic process neuron development recycling endosome uc003ptt.1 uc003ptt.2 uc003ptt.3 uc003ptt.4 
ENST00000230221.5 OR14J1 ENST00000230221.5 Homo sapiens olfactory receptor family 14 subfamily J member 1 (OR14J1), mRNA. (from RefSeq NM_030946) A2BEC2 B0V078 ENST00000230221.1 ENST00000230221.2 ENST00000230221.3 ENST00000230221.4 NM_030946 O14J1_HUMAN OR5U1 Q5ST27 Q9UGF5 uc302whl.1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Odorant receptor (Potential). Cell membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor 1 family. Name=Human Olfactory Receptor Data Exploratorium (HORDE); URL="http://bip.weizmann.ac.il/cgi-bin/HORDE/showGene.pl?key=symbol&value=OR14J1"; G-protein coupled receptor activity olfactory receptor activity odorant binding plasma membrane signal transduction G-protein coupled receptor signaling pathway sensory perception of smell membrane integral component of membrane response to stimulus detection of chemical stimulus involved in sensory perception of smell uc302whl.1 
ENST00000230236.4 HSD17B8 ENST00000230236.4 Homo sapiens hydroxysteroid 17-beta dehydrogenase 8 (HSD17B8), mRNA. (from RefSeq NM_014234) A6NLX7 DHB8_HUMAN ENST00000230236.1 ENST00000230236.2 ENST00000230236.3 FABGL HKE6 NM_014234 Q5STP7 Q92506 Q9UIQ1 RING2 uc302whn.1 In mice, the Ke6 protein is a 17-beta-hydroxysteroid dehydrogenase that can regulate the concentration of biologically active estrogens and androgens. It is preferentially an oxidative enzyme and inactivates estradiol, testosterone, and dihydrotestosterone. However, the enzyme has some reductive activity and can synthesize estradiol from estrone. The protein encoded by this gene is similar to Ke6 and is a member of the short-chain dehydrogenase superfamily. An alternatively spliced transcript of this gene has been detected, but the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.81525.1, BC008185.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968832 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000374662.4/ ENSP00000363794.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## NAD-dependent 17-beta-hydroxysteroid dehydrogenase with highest activity towards estradiol. Has very low activity towards testosterone. The heteroteramer with CBR4 has NADH-dependent 3- ketoacyl-acyl carrier protein reductase activity. May play a role in biosynthesis of fatty acids in mitochondria. Estradiol-17-beta + NAD(P)(+) = estrone + NAD(P)H. Testosterone + NAD(+) = androst-4-ene-3,17- dione + NADH. Steroid biosynthesis; estrogen biosynthesis. Lipid metabolism; fatty acid biosynthesis. Heterotetramer with CBR4; contains two molecules of HSD17B8 and CBR4. Mitochondrion matrix. Highly expressed in placenta, liver and pancreas, lower in the skeletal muscle and kidney. Widely expressed. Up-regulated by estradiol. Belongs to the short-chain dehydrogenases/reductases (SDR) family. 3-hydroxyacyl-CoA dehydrogenase activity estradiol 17-beta-dehydrogenase activity protein binding mitochondrion mitochondrial envelope mitochondrial matrix plasma membrane lipid metabolic process fatty acid metabolic process fatty acid biosynthetic process steroid biosynthetic process estrogen biosynthetic process androgen metabolic process estrogen metabolic process membrane oxidoreductase activity oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor fatty-acyl-CoA biosynthetic process 3-oxoacyl-[acyl-carrier-protein] reductase (NADH) activity testosterone dehydrogenase (NAD+) activity quinone binding protein heterotetramerization oxidation-reduction process NADH binding uc302whn.1 
ENST00000230256.8 UNC93A ENST00000230256.8 Homo sapiens unc-93 homolog A (UNC93A), transcript variant 1, mRNA. (from RefSeq NM_018974) B3KRP5 ENST00000230256.1 ENST00000230256.2 ENST00000230256.3 ENST00000230256.4 ENST00000230256.5 ENST00000230256.6 ENST00000230256.7 NM_018974 Q4QQJ4 Q5JZD6 Q86WB7 UN93A_HUMAN uc003qvq.1 uc003qvq.2 uc003qvq.3 uc003qvq.4 uc003qvq.5 Cell membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q86WB7-1; Sequence=Displayed; Name=2; IsoId=Q86WB7-2; Sequence=VSP_042772; Note=No experimental confirmation available; Expressed in testis, small intestine, spleen, prostate and ovary. Although UNC93A gene is located in a region of the genome frequently associated with ovarian cancer, no evidence have been found for a tumor suppressor function. Belongs to the unc-93 family. Sequence=CAI42706.1; Type=Erroneous gene model prediction; molecular_function plasma membrane biological_process membrane integral component of membrane uc003qvq.1 uc003qvq.2 uc003qvq.3 uc003qvq.4 uc003qvq.5 
ENST00000230301.9 C6orf118 ENST00000230301.9 Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA. (from RefSeq NM_144980) CF118_HUMAN ENST00000230301.1 ENST00000230301.2 ENST00000230301.3 ENST00000230301.4 ENST00000230301.5 ENST00000230301.6 ENST00000230301.7 ENST00000230301.8 NM_144980 Q5T5N4 Q8TC11 uc003qum.1 uc003qum.2 uc003qum.3 uc003qum.4 uc003qum.5 uc003qum.6 uc003qum.1 uc003qum.2 uc003qum.3 uc003qum.4 uc003qum.5 uc003qum.6 
ENST00000230340.9 BYSL ENST00000230340.9 Homo sapiens bystin like (BYSL), mRNA. (from RefSeq NM_004053) BYST_HUMAN ENST00000230340.1 ENST00000230340.2 ENST00000230340.3 ENST00000230340.4 ENST00000230340.5 ENST00000230340.6 ENST00000230340.7 ENST00000230340.8 NM_004053 Q13895 Q6P5W4 Q86W44 Q96IP8 uc003orl.1 uc003orl.2 uc003orl.3 uc003orl.4 uc003orl.5 Bystin is expressed as a 2-kb major transcript and a 3.6-kb minor transcript in SNG-M cells and in human trophoblastic teratocarcinoma HT-H cells. Protein binding assays determined that bystin binds directly to trophinin and tastin, and that binding is enhanced when cytokeratins 8 and 18 are present. Immunocytochemistry of HT-H cells showed that bystin colocalizes with trophinin, tastin, and the cytokeratins, suggesting that these molecules form a complex in trophectoderm cells at the time of implantation. Using immunohistochemistry it was determined that trophinin and bystin are found in the placenta from the sixth week of pregnancy. Both proteins were localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the levels of trophinin, tastin, and bystin decreased and then disappeared from placental villi. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC007340.2, SRR3476690.380103.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000230340.9/ ENSP00000230340.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Required for processing of 20S pre-rRNA precursor and biogenesis of 40S ribosomal subunits. May be required for trophinin-dependent regulation of cell adhesion during implantation of human embryos. Binds trophinin, tastin and cytokeratins. Q12816:TRO; NbExp=4; IntAct=EBI-358049, EBI-950001; Q12815:TROAP; NbExp=9; IntAct=EBI-358049, EBI-2349743; Cytoplasm. Nucleus, nucleolus. Note=Associated with 40S ribosomal subunits. Found in the placenta from the sixth week of pregnancy. Was localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the level decreased and then disappeared from placental villi. HeLa cells lacking BYSL show a delay in the processing of the 18S rRNA component of the 40S ribosomal subunit. HT-H cells lacking BYSL show trophinin-independent signaling through ERBB4. Belongs to the bystin family. Sequence=AAC16603.2; Type=Erroneous initiation; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) in utero embryonic development blastocyst formation trophectodermal cell differentiation RNA binding protein binding nucleus nucleoplasm nucleolus cytoplasm cytosol rRNA processing cell proliferation membrane snoRNA binding preribosome, small subunit precursor ribosome biogenesis intracellular membrane-bounded organelle apical part of cell regulation of protein localization to nucleolus uc003orl.1 uc003orl.2 uc003orl.3 uc003orl.4 uc003orl.5 
ENST00000230354.10 TBP ENST00000230354.10 General transcription factor that functions at the core of the DNA-binding multiprotein factor TFIID. Binding of TFIID to the TATA box is the initial transcriptional step of the pre- initiation complex (PIC), playing a role in the activation of eukaryotic genes transcribed by RNA polymerase II. Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (preinitiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1 with the rDNA promoter. SL1 is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. (from UniProt P20226) ENST00000230354.1 ENST00000230354.2 ENST00000230354.3 ENST00000230354.4 ENST00000230354.5 ENST00000230354.6 ENST00000230354.7 ENST00000230354.8 ENST00000230354.9 GTF2D1 M55654 P20226 Q16845 Q6IBM6 Q9UC02 TBP_HUMAN TF2D TFIID uc003qxt.1 uc003qxt.2 uc003qxt.3 uc003qxt.4 General transcription factor that functions at the core of the DNA-binding multiprotein factor TFIID. Binding of TFIID to the TATA box is the initial transcriptional step of the pre- initiation complex (PIC), playing a role in the activation of eukaryotic genes transcribed by RNA polymerase II. Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (preinitiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1 with the rDNA promoter. SL1 is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. Binds DNA as monomer. Belongs to the TFIID complex together with the TBP-associated factors (TAFs). Component of the transcription factor SL1/TIF-IB complex, composed of TBP and at least TAF1A, TAF1B TAF1C and TAF1D. Association of TBP to form either TFIID or SL1/TIF-IB appears to be mutually exclusive. Interacts with TAF1A, TAF1B and TAF1C. Interacts with TFIIB, NCOA6, DRAP1, DR1 and ELF3. Interacts with SPIB, SNAPC1, SNAPC2 and SNAPC4. Interacts with UTF1. Interacts with BRF2. Interacts with UBTF. Interacts with GPBP1. Interacts with CITED2 (By similarity). Interacts with ATF7IP. Interacts with HIV-1 Tat. O60869-1:EDF1; NbExp=2; IntAct=EBI-355371, EBI-781310; P52657:GTF2A2; NbExp=2; IntAct=EBI-355371, EBI-1045262; P20265:POU3F2; NbExp=2; IntAct=EBI-355371, EBI-1167176; P21675:TAF1; NbExp=5; IntAct=EBI-355371, EBI-491289; P04637:TP53; NbExp=2; IntAct=EBI-355371, EBI-366083; Nucleus. Widely expressed, with levels highest in the testis and ovary. The poly-Gln region of TBP is highly polymorphic (25 to 42 repeats) in normal individuals and is expanded to about 47- 63 repeats in spinocerebellar ataxia 17 (SCA17) patients. Defects in TBP are the cause of spinocerebellar ataxia type 17 (SCA17) [MIM:607136]. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA17 is an autosomal dominant cerebellar ataxia (ADCA) characterized by widespread cerebral and cerebellar atrophy, dementia and extrapyramidal signs. The molecular defect in SCA17 is the expansion of a CAG repeat in the coding region of TBP. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. Belongs to the TBP family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TBP"; transcription factor TFIIIB complex nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II core promoter sequence-specific DNA binding core promoter proximal region sequence-specific DNA binding transcription factor activity, core RNA polymerase III binding RNA polymerase III regulatory region DNA binding core promoter binding TFIIB-class transcription factor binding RNA polymerase II repressing transcription factor binding female pronucleus male pronucleus DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm transcription factor complex transcription factor TFIID complex transcription factor TFIIA complex nuclear euchromatin cytoplasm DNA-templated transcription, initiation transcription initiation from RNA polymerase I promoter transcription elongation from RNA polymerase I promoter termination of RNA polymerase I transcription transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter transcription from RNA polymerase III promoter spermatogenesis transcription factor binding viral process obsolete general RNA polymerase II transcription factor activity aryl hydrocarbon receptor binding enzyme binding macromolecular complex snRNA transcription from RNA polymerase II promoter transcription regulatory region DNA binding pronucleus positive regulation of gene expression, epigenetic positive regulation of transcription, DNA-templated RNA polymerase II transcriptional preinitiation complex assembly repressing transcription factor binding RNA polymerase III transcriptional preinitiation complex assembly transcriptional preinitiation complex regulation of signal transduction by p53 class mediator uc003qxt.1 uc003qxt.2 uc003qxt.3 uc003qxt.4 
ENST00000230361.4 GUCA1B ENST00000230361.4 Homo sapiens guanylate cyclase activator 1B (GUCA1B), mRNA. (from RefSeq NM_002098) ENST00000230361.1 ENST00000230361.2 ENST00000230361.3 GCAP2 GUC1B_HUMAN NM_002098 Q9NU15 Q9UMX6 uc003orz.1 uc003orz.2 uc003orz.3 uc003orz.4 uc003orz.5 The protein encoded by this gene is a calcium-binding protein that activates photoreceptor guanylate cyclases. This gene may have arisen due to a gene duplication event since there is a highly similar gene clustered with it on chromosome 6. Mutations in this gene can cause a form of retinitis pigmentosa. [provided by RefSeq, Nov 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BX537393.1, BQ636025.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1968968 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: upstream AUG and CDS extension is not conserved MANE Ensembl match :: ENST00000230361.4/ ENSP00000230361.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Stimulates guanylyl cyclase 1 (GC1) and GC2 when free calcium ions concentration is low, and GC1 and GC2 when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of GC is a key event in recovery of the dark state of rod photoreceptors following light exposure. Cell membrane. Note=Membranes of outer segment. Retina. Cones and rod. Defects in GUCA1B are the cause of retinitis pigmentosa type 48 (RP48) [MIM:613827]. RP48 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Binds three calcium ions (By similarity). Contains 4 EF-hand domains. photoreceptor outer segment photoreceptor inner segment calcium ion binding plasma membrane receptor guanylyl cyclase signaling pathway cell-cell signaling body fluid secretion visual perception phototransduction calcium sensitive guanylate cyclase activator activity membrane regulation of rhodopsin mediated signaling pathway guanylate cyclase regulator activity regulation of guanylate cyclase activity positive regulation of guanylate cyclase activity metal ion binding response to stimulus photoreceptor disc membrane uc003orz.1 uc003orz.2 uc003orz.3 uc003orz.4 uc003orz.5 
ENST00000230381.7 PRPH2 ENST00000230381.7 Homo sapiens peripherin 2 (PRPH2), mRNA. (from RefSeq NM_000322) ENST00000230381.1 ENST00000230381.2 ENST00000230381.3 ENST00000230381.4 ENST00000230381.5 ENST00000230381.6 NM_000322 P23942 PRPH PRPH2_HUMAN Q5TFH5 Q6DK65 RDS TSPAN22 uc003osk.1 uc003osk.2 uc003osk.3 uc003osk.4 uc003osk.5 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.105378.1, SRR1803614.121211.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000230381.7/ ENSP00000230381.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. It is essential for disk morphogenesis. Homodimer; disulfide-linked. Probably forms a complex with a ROM1 homodimer. Other proteins could associate with this complex in rods. Interacts with MREG. Membrane; Multi-pass membrane protein. Retina (photoreceptor). In rim region of ROS (rod outer segment) disks. Defects in PRPH2 are the cause of retinitis pigmentosa type 7 (RP7) [MIM:608133]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Defects in PRPH2 are a cause of retinitis punctata albescens (RPA) [MIM:136880]. Defects in PRPH2 are a cause of adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]. AVMD is a rare autosomal dominant disorder with incomplete penetrance and highly variable expression. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity. Defects in PRPH2 are a cause of patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]. Patterned dystrophies of the retinal pigment epithelium (RPE) refer to a heterogeneous group of macular disorders. Three main types of PDREP have been described: reticular (fishnet-like) dystrophy, macroreticular (spider-shaped) dystrophy and butterfly-shaped pigment dystrophy. Defects in PRPH2 are a cause of choroidal dystrophy central areolar type 2 (CACD2) [MIM:613105]. It is a disorder which affects the posterior pole of the eye, and early lesions consist of a non-specific area of granular hyperpigmentation at the fovea. The characteristic sign of the disorder, a zone of atrophy that develops in the macula of the eye and involves the retinal pigment epithelium and the choriocapillaris, occurs several decades after onset. Note=Defects in PRPH2 are found in different retinal diseases including cone-rod dystrophy, retinitis pigmentosa, macular degeneration. The mutations underlying autosomal dominant retinitis pigmentosa and severe macular degeneration are largely missense or small in-frame deletions in a large intradiscal loop between the third and fourth transmembrane domains. In contrast, those associated with the milder pattern phenotypes or with digenic RP are scattered more evenly through the gene and are often nonsense mutations. This observation correlates with the hypothesis that the large loop is an important site of interaction between PRPH2 molecules and other protein components in the disk. Belongs to the PRPH2/ROM1 family. Name=Mutations of the RDS gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/rdsmut.htm"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PRPH2"; photoreceptor outer segment integral component of plasma membrane cell adhesion visual perception membrane integral component of membrane retina development in camera-type eye uc003osk.1 uc003osk.2 uc003osk.3 uc003osk.4 uc003osk.5 
ENST00000230419.9 PTK7 ENST00000230419.9 Homo sapiens protein tyrosine kinase 7 (inactive) (PTK7), transcript variant PTK7-1, mRNA. (from RefSeq NM_002821) A8K974 CCK4 ENST00000230419.1 ENST00000230419.2 ENST00000230419.3 ENST00000230419.4 ENST00000230419.5 ENST00000230419.6 ENST00000230419.7 ENST00000230419.8 NM_002821 PTK7_HUMAN Q13308 Q13417 Q5T650 Q6IQ54 Q8NFA5 Q8NFA6 Q8NFA7 Q8NFA8 uc003oub.1 uc003oub.2 uc003oub.3 uc003oub.4 This gene encodes a member of the receptor protein tyrosine kinase family of proteins that transduce extracellular signals across the cell membrane. The encoded protein lacks detectable catalytic tyrosine kinase activity, is involved in the Wnt signaling pathway and plays a role in multiple cellular processes including polarity and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. Inactive tyrosine kinase involved in Wnt signaling pathway. Component of both the non-canonical (also known as the Wnt/planar cell polarity signaling) and the canonical Wnt signaling pathway. Functions in cell adhesion, cell migration, cell polarity, proliferation, actin cytoskeleton reorganization and apoptosis. Has a role in embryogenesis, epithelial tissue organization and angiogenesis. Interacts with CTNNB1. Membrane; Single-pass type I membrane protein. Cell junction. Note=Co-localizes with MMP14 at cell junctions. Also localizes at the leading edge of migrating cells. Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=PTK7-1; IsoId=Q13308-1; Sequence=Displayed; Name=2; Synonyms=PTK7-2; IsoId=Q13308-2; Sequence=VSP_037182; Name=3; Synonyms=PTK7-3; IsoId=Q13308-3; Sequence=VSP_037181; Name=4; Synonyms=PTK7-4; IsoId=Q13308-4; Sequence=VSP_037183; Name=5; Synonyms=PTK7-5; IsoId=Q13308-5; Sequence=VSP_037184, VSP_037185; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Highly expressed in lung, liver, pancreas, kidney, placenta and melanocytes. Weakly expressed in thyroid gland, ovary, brain, heart and skeletal muscle. Also expressed in erythroleukemia cells. But not expressed in colon. Higher expression in cell lines established from normal non-tumorigenic tissues compared to cell lines established from highly metastatic invasive carcinomas (at protein level). MMP14 cleaves PTK7 between Pro-621 and Leu-622 generating an N-terminal soluble (70 kDa) fragment and a membrane C-terminal (50 kDa) fragment. Proteolysis by MMP14 regulates PTK7 function in non-canonical Wnt signaling pathway. Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily. Contains 7 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 protein kinase domain. establishment of planar polarity neural tube closure ventricular septum development axis elongation protein kinase activity protein binding ATP binding plasma membrane integral component of plasma membrane cell-cell junction focal adhesion protein phosphorylation cell adhesion signal transduction heart development positive regulation of neuron projection development membrane integral component of membrane Wnt signaling pathway cell migration cell junction actin cytoskeleton reorganization wound healing establishment of epithelial cell apical/basal polarity convergent extension lung-associated mesenchyme development coronary vasculature development cellular response to retinoic acid cochlea morphogenesis planar cell polarity pathway involved in neural tube closure positive regulation of canonical Wnt signaling pathway coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway uc003oub.1 uc003oub.2 uc003oub.3 uc003oub.4 
ENST00000230431.11 DNPH1 ENST00000230431.11 Homo sapiens 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 (DNPH1), transcript variant 1, mRNA. (from RefSeq NM_006443) B2LUJ9 C6orf108 ENST00000230431.1 ENST00000230431.10 ENST00000230431.2 ENST00000230431.3 ENST00000230431.4 ENST00000230431.5 ENST00000230431.6 ENST00000230431.7 ENST00000230431.8 ENST00000230431.9 NM_006443 O43598 RCL RCL_HUMAN uc003ouo.1 uc003ouo.2 uc003ouo.3 uc003ouo.4 uc003ouo.5 This gene was identified on the basis of its stimulation by c-Myc protein. The latter is a transcription factor that participates in the regulation of cell proliferation, differentiation, and apoptosis. The exact function of this gene is not known but studies in rat suggest a role in cellular proliferation and c-Myc-mediated transformation. Two alternative transcripts encoding different proteins have been described. [provided by RefSeq, Jul 2008]. Catalyzes the cleavage of the N-glycosidic bond of deoxyribonucleoside 5'-monophosphates to yield deoxyribose 5- phosphate and a purine or pyrimidine base. Deoxyribonucleoside 5'- monophosphates containing purine bases are preferred to those containing pyrimidine bases (By similarity). A deoxyribonucleoside 5'-monophosphate + H(2)0 = deoxyribose 5-monophosphate + a purine or pyrimidine base. Monomer and homodimer (By similarity). Nucleus (By similarity). Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O43598-1; Sequence=Displayed; Name=2; IsoId=O43598-2; Sequence=VSP_040509, VSP_040510; Expressed at low levels in brain, colon, lung, peripheral blood leukocytes, placenta, small intestine, and thymus. Expressed at high levels in heart, kidney, liver, skeletal muscle and spleen. Overexpressed in a significant proportion of breast cancers. Expression is induced by ETV1. Belongs to the deoxyribonucleoside 5'-monophosphate N- glycosidase family. protein binding nucleus cytoplasm cytosol purine nucleotide catabolic process metabolic process nucleoside metabolic process nucleotide metabolic process deoxyribonucleoside monophosphate catabolic process hydrolase activity hydrolase activity, acting on glycosyl bonds hydrolase activity, hydrolyzing N-glycosyl compounds positive regulation of cell growth epithelial cell differentiation identical protein binding protein homodimerization activity extracellular exosome deoxyribonucleoside 5'-monophosphate N-glycosidase activity uc003ouo.1 uc003ouo.2 uc003ouo.3 uc003ouo.4 uc003ouo.5 
ENST00000230449.9 EXOC2 ENST00000230449.9 Homo sapiens exocyst complex component 2 (EXOC2), transcript variant 2, non-coding RNA. (from RefSeq NR_073064) ENST00000230449.1 ENST00000230449.2 ENST00000230449.3 ENST00000230449.4 ENST00000230449.5 ENST00000230449.6 ENST00000230449.7 ENST00000230449.8 EXOC2_HUMAN NR_073064 Q5JPC8 Q96AN6 Q96KP1 Q9NUZ8 Q9UJM7 SEC5 SEC5L1 uc003mtd.1 uc003mtd.2 uc003mtd.3 uc003mtd.4 uc003mtd.5 uc003mtd.6 The protein encoded by this gene is a component of the exocyst complex, a multi-protein complex essential for the polarized targeting of exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and the functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. This interaction has been shown to mediate filopodia formation in fibroblasts. This protein has been shown to interact with the Ral subfamily of GTPases and thereby mediate exocytosis by tethering vesicles to the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]. Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. The exocyst complex is composed of EXOC1, EXOC2, EXOC3, EXOC4, EXOC5, EXOC6, EXOC7 and EXOC8. Interacts with EXOC3L1 (By similarity). Interacts with RALA and GNEFR/DELGEF. Interaction with GNEFR occurs only in the presence of magnesium or manganese and is stimulated by dCTP or GTP. Interacts with RALB. Widely expressed with highest levels in brain and placenta. Interacts with RALA through the TIG domain (By similarity). Belongs to the SEC5 family. Contains 1 IPT/TIG domain. Sequence=BAA91963.1; Type=Erroneous initiation; exocyst protein binding cytosol plasma membrane exocytosis Golgi to plasma membrane transport protein transport membrane vesicle-mediated transport Ral GTPase binding protein kinase binding protein N-terminus binding Flemming body regulation of entry of bacterium into host cell uc003mtd.1 uc003mtd.2 uc003mtd.3 uc003mtd.4 uc003mtd.5 uc003mtd.6 
ENST00000230461.11 TMEM30A ENST00000230461.11 Homo sapiens transmembrane protein 30A (TMEM30A), transcript variant 1, mRNA. (from RefSeq NM_018247) A8K9V8 C6orf67 CC50A_HUMAN CDC50A E1P539 ENST00000230461.1 ENST00000230461.10 ENST00000230461.2 ENST00000230461.3 ENST00000230461.4 ENST00000230461.5 ENST00000230461.6 ENST00000230461.7 ENST00000230461.8 ENST00000230461.9 NM_018247 Q658Z3 Q96H09 Q9NSL9 Q9NV96 uc003phw.1 uc003phw.2 uc003phw.3 uc003phw.4 Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NV96-1; Sequence=Displayed; Name=2; IsoId=Q9NV96-2; Sequence=VSP_019568; Name=3; IsoId=Q9NV96-3; Sequence=VSP_019567; Note=No experimental confirmation available; Belongs to the CDC50/LEM3 family. protein binding endoplasmic reticulum Golgi apparatus plasma membrane drug transmembrane transport lipid transport positive regulation of neuron projection development aminophospholipid transporter activity phospholipid transport aminophospholipid transport membrane integral component of membrane apical plasma membrane transport vesicle membrane cytoplasmic vesicle azurophil granule membrane specific granule membrane protein localization to endosome neutrophil degranulation phospholipid translocation positive regulation of protein exit from endoplasmic reticulum uc003phw.1 uc003phw.2 uc003phw.3 uc003phw.4 
ENST00000230582.8 PRSS16 ENST00000230582.8 Homo sapiens serine protease 16 (PRSS16), mRNA. (from RefSeq NM_005865) ENST00000230582.1 ENST00000230582.2 ENST00000230582.3 ENST00000230582.4 ENST00000230582.5 ENST00000230582.6 ENST00000230582.7 NM_005865 O75416 Q9NQE7 TSSP TSSP_HUMAN uc003nja.1 uc003nja.2 uc003nja.3 uc003nja.4 uc003nja.5 This gene encodes a serine protease expressed exclusively in the thymus. It is thought to play a role in the alternative antigen presenting pathway used by cortical thymic epithelial cells during the positive selection of T cells. The gene is found in the large histone gene cluster on chromosome 6, near the major histocompatibility complex (MHC) class I region. A second transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF052514.1, AK314037.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03465418 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000230582.8/ ENSP00000230582.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Protease that may play a role in T-cell development. Cytoplasmic vesicle. Note=Vesicular, either lysosomal or endosomal. Expressed predominantly in cortical thymic epithelial cells. Expressed in fetal thymus. Belongs to the peptidase S28 family. Sequence=CAB94769.1; Type=Erroneous gene model prediction; lysosome endosome proteolysis peptidase activity serine-type peptidase activity dipeptidyl-peptidase activity hydrolase activity protein catabolic process cytoplasmic vesicle uc003nja.1 uc003nja.2 uc003nja.3 uc003nja.4 uc003nja.5 
ENST00000230588.9 MEP1A ENST00000230588.9 Homo sapiens meprin A subunit alpha (MEP1A), mRNA. (from RefSeq NM_005588) A2RRM4 B0AZP9 B2RCS2 ENST00000230588.1 ENST00000230588.2 ENST00000230588.3 ENST00000230588.4 ENST00000230588.5 ENST00000230588.6 ENST00000230588.7 ENST00000230588.8 MEP1A_HUMAN NM_005588 Q16819 Q8TDC9 Q9H1R1 uc010jzh.1 uc010jzh.2 uc010jzh.3 Hydrolysis of protein and peptide substrates preferentially on carboxyl side of hydrophobic residues. Binds 1 zinc ion per subunit (By similarity). Inhibited by several hydroxamate compounds, the most potent inhibitor is actinonin. Kinetic parameters: KM=110 uM for GRP; KM=18.0 uM for PTH 12-34; KM=33.9 uM for secretin; KM=41.3 uM for substance P; KM=56.5 uM for LHRH; KM=73.2 uM for orcokinin; KM=292 uM for alpha-MSH; KM=125 uM for bradykinin; KM=200 uM for gastrin; Homotetramer consisting of disulfide-linked alpha subunits, homooligomer consisting of disulfide-linked alpha subunit homodimers, or heterotetramer of two alpha and two beta subunits formed by non-covalent association of two disulfide- linked heterodimers (By similarity). Interacts with MBL2 through its carbohydrate moiety. This interaction may inhibit its catalytic activity (By similarity). Membrane; Single-pass type I membrane protein. N-glycosylated; contains GlcNAc, galactose, mannose and a small amount of fucose (By similarity). Belongs to the peptidase M12A family. Contains 1 EGF-like domain. Contains 1 MAM domain. Contains 1 MATH domain. metalloendopeptidase activity protein binding extracellular space integral component of plasma membrane proteolysis peptidase activity metallopeptidase activity zinc ion binding membrane integral component of membrane hydrolase activity meprin A complex metal ion binding extracellular exosome uc010jzh.1 uc010jzh.2 uc010jzh.3 
ENST00000230640.10 MTREX ENST00000230640.10 Homo sapiens Mtr4 exosome RNA helicase (MTREX), mRNA. (from RefSeq NM_015360) ENST00000230640.1 ENST00000230640.2 ENST00000230640.3 ENST00000230640.4 ENST00000230640.5 ENST00000230640.6 ENST00000230640.7 ENST00000230640.8 ENST00000230640.9 KIAA0052 Mtr4 NM_015360 P42285 Q2M386 Q6MZZ8 Q6P170 Q8N5R0 Q8TAG2 SK2L2_HUMAN SKIV2L2 uc003jpy.1 uc003jpy.2 uc003jpy.3 uc003jpy.4 uc003jpy.5 uc003jpy.6 May be involved in pre-mRNA splicing. Associated with the RNA exosome complex and involved in the 3'processing of the 7S pre-RNA to the mature 5.8S rRNA. ATP + H(2)O = ADP + phosphate. Associated with the RNA exosome complex. Identified in the spliceosome C complex. Q99547:MPHOSPH6; NbExp=2; IntAct=EBI-347612, EBI-373187; Nucleus, nucleolus. Belongs to the helicase family. SKI2 subfamily. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain. Sequence=AAH65258.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAA06124.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; nucleotide binding mRNA splicing, via spliceosome maturation of 5.8S rRNA nucleic acid binding RNA binding RNA helicase activity helicase activity protein binding ATP binding nucleus nucleoplasm spliceosomal complex nucleolus rRNA processing mRNA processing RNA catabolic process RNA splicing hydrolase activity TRAMP complex catalytic step 2 spliceosome nuclear exosome (RNase complex) exosome (RNase complex) uc003jpy.1 uc003jpy.2 uc003jpy.3 uc003jpy.4 uc003jpy.5 uc003jpy.6 
ENST00000230658.12 ISL1 ENST00000230658.12 Homo sapiens ISL LIM homeobox 1 (ISL1), mRNA. (from RefSeq NM_002202) ENST00000230658.1 ENST00000230658.10 ENST00000230658.11 ENST00000230658.2 ENST00000230658.3 ENST00000230658.4 ENST00000230658.5 ENST00000230658.6 ENST00000230658.7 ENST00000230658.8 ENST00000230658.9 ISL1_HUMAN NM_002202 P20663 P47894 P61371 uc003jor.1 uc003jor.2 uc003jor.3 uc003jor.4 uc003jor.5 This gene encodes a member of the LIM/homeodomain family of transcription factors. The encoded protein binds to the enhancer region of the insulin gene, among others, and may play an important role in regulating insulin gene expression. The encoded protein is central to the development of pancreatic cell lineages and may also be required for motor neuron generation. Mutations in this gene have been associated with maturity-onset diabetes of the young. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U07559.1, BC031213.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000230658.12/ ENSP00000230658.7 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Binds to one of the cis-acting domain of the insulin gene enhancer. Nucleus. Expressed in subsets of neurons of the adrenal medulla and dorsal root ganglion, inner nuclear and ganglion cell layers in the retina, the pineal and some regions of the brain. Contains 1 homeobox DNA-binding domain. Contains 2 LIM zinc-binding domains. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II activating transcription factor binding enhancer sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding neural crest cell migration heart morphogenesis secondary heart field specification outflow tract septum morphogenesis outflow tract morphogenesis endocardial cushion morphogenesis cardiac right ventricle morphogenesis regulation of secondary heart field cardioblast proliferation DNA binding chromatin binding transcription coactivator activity protein binding nucleus nucleoplasm cytoplasm regulation of transcription, DNA-templated multicellular organism development axonogenesis heart development positive regulation of cell proliferation regulation of gene expression positive regulation of vascular endothelial growth factor production positive regulation of epithelial to mesenchymal transition ligand-dependent nuclear receptor binding spinal cord motor neuron cell fate specification spinal cord motor neuron differentiation visceral motor neuron differentiation trigeminal nerve development pituitary gland development cell differentiation neuron differentiation estrogen receptor binding pancreas development axon regeneration retinal ganglion cell axon guidance positive regulation of insulin secretion positive regulation of granulocyte macrophage colony-stimulating factor production positive regulation of interferon-gamma production positive regulation of interleukin-1 alpha production positive regulation of interleukin-1 beta production positive regulation of interleukin-12 production positive regulation of interleukin-6 production positive regulation of tumor necrosis factor production negative regulation of intracellular estrogen receptor signaling pathway positive regulation of histone acetylation positive regulation of tyrosine phosphorylation of STAT protein positive regulation of DNA binding bHLH transcription factor binding negative regulation of neuron apoptotic process sequence-specific DNA binding positive regulation of cell differentiation negative regulation of neuron differentiation positive regulation of angiogenesis positive regulation of transcription from RNA polymerase II promoter metal ion binding neuron fate commitment neuron fate specification mesenchymal cell differentiation sensory system development peripheral nervous system neuron development peripheral nervous system neuron axonogenesis negative regulation of epithelial cell proliferation negative regulation of inflammatory response ventricular cardiac muscle tissue morphogenesis pharyngeal system development cardiac muscle cell myoblast differentiation innervation atrial septum morphogenesis cardiac cell fate determination cellular response to glucocorticoid stimulus positive regulation of granulocyte colony-stimulating factor production negative regulation of protein homodimerization activity negative regulation of canonical Wnt signaling pathway positive regulation of macrophage colony-stimulating factor production promoter-specific chromatin binding uc003jor.1 uc003jor.2 uc003jor.3 uc003jor.4 uc003jor.5 
ENST00000230671.7 SLC6A7 ENST00000230671.7 Homo sapiens solute carrier family 6 member 7 (SLC6A7), mRNA. (from RefSeq NM_014228) ENST00000230671.1 ENST00000230671.2 ENST00000230671.3 ENST00000230671.4 ENST00000230671.5 ENST00000230671.6 NM_014228 PROT Q0VG81 Q52LU6 Q99884 SC6A7_HUMAN uc003lrr.1 uc003lrr.2 uc003lrr.3 uc003lrr.4 This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript matching the genomic sequence was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. ##Evidence-Data-START## Transcript exon combination :: AK096607.1, SRR1803614.50508.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145743, SAMEA2154665 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: upstream AUG and CDS extension is not conserved MANE Ensembl match :: ENST00000230671.7/ ENSP00000230671.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Terminates the action of proline by its high affinity sodium-dependent reuptake into presynaptic terminals. Membrane; Multi-pass membrane protein. Brain. Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A7 subfamily. proline:sodium symporter activity neurotransmitter:sodium symporter activity plasma membrane integral component of plasma membrane neurotransmitter transport amino acid transport L-proline transmembrane transporter activity symporter activity proline transport membrane integral component of membrane proline transmembrane transport uc003lrr.1 uc003lrr.2 uc003lrr.3 uc003lrr.4 
ENST00000230771.9 HARS2 ENST00000230771.9 Homo sapiens histidyl-tRNA synthetase 2, mitochondrial (HARS2), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_012208) ENST00000230771.1 ENST00000230771.2 ENST00000230771.3 ENST00000230771.4 ENST00000230771.5 ENST00000230771.6 ENST00000230771.7 ENST00000230771.8 HARSL HARSR HO3 NM_012208 P49590 SYHM_HUMAN uc003lgx.1 uc003lgx.2 uc003lgx.3 uc003lgx.4 uc003lgx.5 uc003lgx.6 uc003lgx.7 Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-transfer RNA, the enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes likely share a bidirectional promoter. Mutations in this gene are associated with the pathogenesis of Perrault syndrome, which involves ovarian dysgenesis and sensorineural hearing loss. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]. ATP + L-histidine + tRNA(His) = AMP + diphosphate + L-histidyl-tRNA(His). Mitochondrion matrix (By similarity). A high level expression is seen in the heart, kidney and skeletal muscle while a lower level expression is seen in the brain and liver. Belongs to the class-II aminoacyl-tRNA synthetase family. nucleotide binding RNA binding aminoacyl-tRNA ligase activity histidine-tRNA ligase activity protein binding ATP binding cytoplasm mitochondrion mitochondrial matrix cytosol translation tRNA aminoacylation for protein translation histidyl-tRNA aminoacylation ligase activity identical protein binding protein homodimerization activity uc003lgx.1 uc003lgx.2 uc003lgx.3 uc003lgx.4 uc003lgx.5 uc003lgx.6 uc003lgx.7 
ENST00000230792.7 NUDT12 ENST00000230792.7 Homo sapiens nudix hydrolase 12 (NUDT12), transcript variant 1, mRNA. (from RefSeq NM_031438) B3KUW2 ENST00000230792.1 ENST00000230792.2 ENST00000230792.3 ENST00000230792.4 ENST00000230792.5 ENST00000230792.6 NM_031438 NUD12_HUMAN Q8TAL7 Q9BQG2 uc003koi.1 uc003koi.2 uc003koi.3 uc003koi.4 uc003koi.5 Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such as NUDT12, regulate the concentrations of individual nucleotides and of nucleotide ratios in response to changing circumstances (Abdelraheim et al., 2003 [PubMed 12790796]).[supplied by OMIM, Mar 2008]. Hydrolyzes NAD(P)H to NMNH and AMP (2',5'-ADP), and diadenosine diphosphate to AMP. Has also activity towards NAD(P)(+), ADP-ribose and diadenosine triphosphate. May act to regulate the concentration of peroxisomal nicotinamide nucleotide cofactors required for oxidative metabolism in this organelle. NAD(+) + H(2)O = AMP + NMN. Magnesium or manganese (By similarity). Kinetic parameters: KM=11 uM for NADH; KM=16 uM for NADPH; KM=190 uM for NAD; pH dependence: Optimum pH is 8-9; Peroxisome. Belongs to the Nudix hydrolase family. NudC subfamily. Contains 3 ANK repeats. Contains 1 nudix hydrolase domain. NAD+ diphosphatase activity protein binding nucleus cytoplasm peroxisome peroxisomal matrix cytosol NADH metabolic process NADP catabolic process hydrolase activity NAD catabolic process NAD biosynthesis via nicotinamide riboside salvage pathway NADH pyrophosphatase activity metal ion binding uc003koi.1 uc003koi.2 uc003koi.3 uc003koi.4 uc003koi.5 
ENST00000230882.9 GHR ENST00000230882.9 Homo sapiens growth hormone receptor (GHR), transcript variant 9, mRNA. (from RefSeq NM_001242406) ENST00000230882.1 ENST00000230882.2 ENST00000230882.3 ENST00000230882.4 ENST00000230882.5 ENST00000230882.6 ENST00000230882.7 ENST00000230882.8 GHR_HUMAN NM_001242406 P10912 Q9HCX2 uc003jmt.1 uc003jmt.2 uc003jmt.3 uc003jmt.4 uc003jmt.5 This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]. Receptor for pituitary gland growth hormone involved in regulating postnatal body growth. On ligand binding, couples to the JAK2/STAT5 pathway (By similarity). The soluble form (GHBP) acts as a reservoir of growth hormone in plasma and may be a modulator/inhibitor of GH signaling. Isoform 2 up-regulates the production of GHBP and acts as a negative inhibitor of GH signaling. On growth hormone (GH) binding, forms homodimers and binds JAK2 via a box 1-containing domain (By similarity). Binding to SOCS3 inhibits JAK2 activation, binding to CIS and SOCS2 inhibits STAT5 activation (By similarity). Interacts with ADAM17 (By similarity). Q16829:DUSP7; NbExp=2; IntAct=EBI-286316, EBI-1265847; P01241:GH1; NbExp=3; IntAct=EBI-286316, EBI-1026046; P16333:NCK1; NbExp=2; IntAct=EBI-286316, EBI-389883; Q9JLI4:Ncoa6 (xeno); NbExp=2; IntAct=EBI-286316, EBI-286271; P18031:PTPN1; NbExp=5; IntAct=EBI-286316, EBI-968788; P17706:PTPN2; NbExp=8; IntAct=EBI-286316, EBI-984930; P26045:PTPN3; NbExp=4; IntAct=EBI-286316, EBI-1047946; P43378:PTPN9; NbExp=2; IntAct=EBI-286316, EBI-742898; P23467:PTPRB; NbExp=3; IntAct=EBI-286316, EBI-1265766; Q9HD43:PTPRH; NbExp=4; IntAct=EBI-286316, EBI-1267176; Q12913:PTPRJ; NbExp=2; IntAct=EBI-286316, EBI-2264500; Cell membrane; Single-pass type I membrane protein. Note=On growth hormone binding, GHR is ubiquitinated, internalized, down-regulated and transported into a degradative or non-degradative pathway (By similarity). Isoform 2: Cell membrane; Single-pass type I membrane protein. Note=Remains fixed to the cell membrane and is not internalized. Growth hormone-binding protein: Secreted. Note=Complexed to a substantial fraction of circulating GH (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=GHRfl; IsoId=P10912-1; Sequence=Displayed; Name=2; Synonyms=GHRtr, GHR1-279; IsoId=P10912-2; Sequence=VSP_010227, VSP_010228; Name=3; Synonyms=GHR1-277; IsoId=P10912-3; Sequence=VSP_010229, VSP_010230; Name=4; Synonyms=GHRd3; IsoId=P10912-4; Sequence=VSP_010225, VSP_010226; Note=Arises by species-specific retrovirus-mediated alternative splice mimicry; Expressed in various tissues with high expression in liver and skeletal muscle. Isoform 4 is predominantly expressed in kidney, bladder, adrenal gland and brain stem. Isoform 1 expression in placenta is predominant in chorion and decidua. Isoform 4 is highly expressed in placental villi. Isoform 2 is expressed in lung, stomach and muscle. Low levels in liver. The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell- surface receptor binding. The box 1 motif is required for JAK interaction and/or activation. The extracellular domain is the ligand-binding domain representing the growth hormone-binding protein (GHBP). The ubiquitination-dependent endocytosis motif (UbE) is required for recruitment of the ubiquitin conjugation system on to the receptor and for its internalization. The soluble form (GHBP) is produced by phorbol ester-promoted proteolytic cleavage at the cell surface (shedding) by ADAM17/TACE. Shedding is inhibited by growth hormone (GH) binding to the receptor probably due to a conformational change in GHR rendering the receptor inaccessible to ADAM17 (By similarity). On GH binding, phosphorylated on tyrosine residues in the cytoplasmic domain by JAK2 (By similarity). On ligand binding, ubiquitinated on lysine residues in the cytoplasmic domain. This ubiquitination is not sufficient for GHR internalization (By similarity). Genetic variation in GHR may act as phenotype modifier in familial hypercholesterolemia [MIM:143890] patients carrying a mutation in the LDLR gene. Defects in GHR are a cause of Laron syndrome (LARS) [MIM:262500]. A severe form of growth hormone insensitivity characterized by growth impairment, short stature, dysfunctional growth hormone receptor, and failure to generate insulin-like growth factor I in response to growth hormone. Defects in GHR may be a cause of idiopathic short stature autosomal (ISSA) [MIM:604271]. Short stature is defined by a subnormal rate of growth. Belongs to the type I cytokine receptor family. Type 1 subfamily. Contains 1 fibronectin type-III domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GHR"; activation of MAPK activity cytokine receptor activity growth hormone receptor activity protein binding extracellular region extracellular space cytosol plasma membrane integral component of plasma membrane endocytosis JAK-STAT cascade external side of plasma membrane cell surface membrane integral component of membrane peptide hormone binding cytokine-mediated signaling pathway taurine metabolic process growth factor binding protein kinase binding cytokine binding receptor internalization response to estradiol cellular response to hormone stimulus cytoplasmic ribonucleoprotein granule regulation of multicellular organism growth positive regulation of multicellular organism growth hormone metabolic process positive regulation of tyrosine phosphorylation of STAT protein identical protein binding protein homodimerization activity activation of Janus kinase activity receptor complex positive regulation of JAK-STAT cascade response to cycloheximide insulin-like growth factor receptor signaling pathway positive regulation of peptidyl-tyrosine phosphorylation growth hormone receptor signaling pathway JAK-STAT cascade involved in growth hormone signaling pathway proline-rich region binding growth hormone receptor complex uc003jmt.1 uc003jmt.2 uc003jmt.3 uc003jmt.4 uc003jmt.5 
ENST00000230895.11 DAP ENST00000230895.11 Homo sapiens death associated protein (DAP), transcript variant 2, mRNA. (from RefSeq NM_004394) DAP1 DAP1_HUMAN ENST00000230895.1 ENST00000230895.10 ENST00000230895.2 ENST00000230895.3 ENST00000230895.4 ENST00000230895.5 ENST00000230895.6 ENST00000230895.7 ENST00000230895.8 ENST00000230895.9 NM_004394 P51397 Q6FGC3 Q9BUC9 uc003jez.1 uc003jez.2 uc003jez.3 uc003jez.4 uc003jez.5 uc003jez.6 This gene encodes a basic, proline-rich, 15-kD protein. The protein acts as a positive mediator of programmed cell death that is induced by interferon-gamma. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]. Negative regulator of autophagy. Involved in mediating interferon-gamma-induced cell death. Phosphorylated. Phosphorylation by MTOR inhibits the suppressive activity of DAP toward autophagy. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/dap/"; autophagy apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process negative regulation of autophagy negative regulation of NF-kappaB transcription factor activity cellular response to amino acid starvation negative regulation of transcription, DNA-templated death domain binding apoptotic signaling pathway uc003jez.1 uc003jez.2 uc003jez.3 uc003jez.4 uc003jez.5 uc003jez.6 
ENST00000230990.7 HBEGF ENST00000230990.7 Homo sapiens heparin binding EGF like growth factor (HBEGF), mRNA. (from RefSeq NM_001945) B2R821 DTR DTS ENST00000230990.1 ENST00000230990.2 ENST00000230990.3 ENST00000230990.4 ENST00000230990.5 ENST00000230990.6 HBEGF_HUMAN HEGFL NM_001945 Q99075 uc003lfi.1 uc003lfi.2 uc003lfi.3 uc003lfi.4 uc003lfi.5 Growth factor that mediates its effects via EGFR, ERBB2 and ERBB4. Required for normal cardiac valve formation and normal heart function. Promotes smooth muscle cell proliferation. May be involved in macrophage-mediated cellular proliferation. It is mitogenic for fibroblasts, but not endothelial cells. It is able to bind EGF receptor/EGFR with higher affinity than EGF itself and is a far more potent mitogen for smooth muscle cells than EGF. Also acts as a diphtheria toxin receptor. Interacts with FBLN1 (By similarity). Interacts with EGFR and ERBB4. Heparin-binding EGF-like growth factor: Secreted, extracellular space. Note=Mature HB-EGF is released into the extracellular space and probably binds to a receptor. Proheparin-binding EGF-like growth factor: Cell membrane; Single-pass type I membrane protein. Several N-termini have been identified by direct sequencing. The forms with N-termini 63, 73 and 74 have been tested and found to be biologically active. O-glycosylated with core 1 or possibly core 8 glycans. Thr-47 is a minor glycosylation site compared to Thr-44. Contains 1 EGF-like domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/dtr/"; MAPK cascade epidermal growth factor receptor binding extracellular region extracellular space plasma membrane integral component of plasma membrane signal transduction epidermal growth factor receptor signaling pathway muscle organ development regulation of heart contraction growth factor activity heparin binding positive regulation of cell proliferation cell surface membrane integral component of membrane cell migration positive regulation of cell growth positive regulation of cell migration clathrin-coated vesicle membrane endocytic vesicle membrane clathrin-coated endocytic vesicle membrane wound healing, spreading of epidermal cells ERBB2 signaling pathway negative regulation of epidermal growth factor receptor signaling pathway positive regulation of smooth muscle cell proliferation positive regulation of peptidyl-tyrosine phosphorylation negative regulation of elastin biosynthetic process positive regulation of keratinocyte migration positive regulation of protein kinase B signaling cell chemotaxis membrane organization positive regulation of wound healing regulation of cell motility uc003lfi.1 uc003lfi.2 uc003lfi.3 uc003lfi.4 uc003lfi.5 
ENST00000231004.5 LOX ENST00000231004.5 Homo sapiens lysyl oxidase (LOX), transcript variant 1, mRNA. (from RefSeq NM_002317) B2R5Q3 ENST00000231004.1 ENST00000231004.2 ENST00000231004.3 ENST00000231004.4 LYOX_HUMAN NM_002317 P28300 Q5FWF0 uc003ksu.1 uc003ksu.2 uc003ksu.3 uc003ksu.4 uc003ksu.5 This gene encodes a member of the lysyl oxidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a regulatory propeptide and the mature enzyme. The copper-dependent amine oxidase activity of this enzyme functions in the crosslinking of collagens and elastin, while the propeptide may play a role in tumor suppression. In addition, defects in this gene have been linked with predisposition to thoracic aortic aneurysms and dissections. [provided by RefSeq, Jul 2016]. Responsible for the post-translational oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin. In addition to cross-linking of extracellular matrix proteins, may have a direct role in tumor suppression. Peptidyl-L-lysyl-peptide + O(2) + H(2)O = peptidyl-allysyl-peptide + NH(3) + H(2)O(2). Copper. Contains 1 lysine tyrosylquinone (By similarity). O95967:EFEMP2; NbExp=4; IntAct=EBI-3893481, EBI-743414; P15502:ELN; NbExp=2; IntAct=EBI-3893481, EBI-1222108; P35555:FBN1; NbExp=2; IntAct=EBI-3893481, EBI-2505934; Secreted, extracellular space. Heart, placenta, skeletal muscle, kidney, lung and pancreas. The lysine tyrosylquinone cross-link (LTQ) is generated by condensation of the epsilon-amino group of a lysine with a topaquinone produced by oxidation of tyrosine. The propeptide plays a role in directing the deposition of this enzyme to elastic fibers, via interaction with tropoelastin (By similarity). Belongs to the lysyl oxidase family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/LOXID41191ch5q23.html"; blood vessel development osteoblast differentiation regulation of protein phosphorylation protein-lysine 6-oxidase activity copper ion binding protein binding collagen binding extracellular region collagen trimer extracellular space nucleus cellular protein modification process heart development response to hormone regulation of gene expression regulation of striated muscle tissue development oxidoreductase activity oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor regulation of transforming growth factor beta receptor signaling pathway peptidyl-lysine oxidation protein oxidation extracellular matrix organization collagen fibril organization bone mineralization lung development extracellular matrix platelet-derived growth factor receptor-beta signaling pathway aorta development ascending aorta development descending aorta development wound healing response to drug regulation of apoptotic process protein kinase B signaling regulation of megakaryocyte differentiation muscle cell cellular homeostasis metal ion binding elastic fiber assembly blood vessel morphogenesis response to steroid hormone muscle fiber development oxidation-reduction process cell chemotaxis connective tissue development cellular response to organic substance DNA biosynthetic process regulation of receptor binding regulation of bone development cellular response to chemokine regulation of platelet-derived growth factor receptor-beta signaling pathway uc003ksu.1 uc003ksu.2 uc003ksu.3 uc003ksu.4 uc003ksu.5 
ENST00000231009.3 GZMK ENST00000231009.3 Homo sapiens granzyme K (GZMK), mRNA. (from RefSeq NM_002104) B2R563 ENST00000231009.1 ENST00000231009.2 GRAK_HUMAN NM_002104 P49863 TRYP2 uc003jpl.1 uc003jpl.2 uc003jpl.3 This gene product is a member of a group of related serine proteases from the cytoplasmic granules of cytotoxic lymphocytes. Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here lacks consensus sequences for N-glycosylation present in other granzymes. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.268483.1, AK312074.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231009.3/ ENSP00000231009.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Secreted. Cytoplasmic granule. Expressed in lung, spleen, thymus and peripheral blood leukocytes. Belongs to the peptidase S1 family. Granzyme subfamily. Contains 1 peptidase S1 domain. serine-type endopeptidase activity extracellular region proteolysis peptidase activity serine-type peptidase activity hydrolase activity positive regulation of apoptotic process negative regulation of oxidoreductase activity uc003jpl.1 uc003jpl.2 uc003jpl.3 
ENST00000231021.9 CDH9 ENST00000231021.9 Homo sapiens cadherin 9 (CDH9), mRNA. (from RefSeq NM_016279) CADH9_HUMAN ENST00000231021.1 ENST00000231021.2 ENST00000231021.3 ENST00000231021.4 ENST00000231021.5 ENST00000231021.6 ENST00000231021.7 ENST00000231021.8 NM_016279 Q3B7I5 Q9ULB4 uc003jgs.1 uc003jgs.2 uc003jgs.3 This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB035302.1, SRR1660809.172028.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968540, SAMEA1968968 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231021.9/ ENSP00000231021.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. Cell membrane; Single-pass type I membrane protein (Potential). Contains 5 cadherin domains. cell morphogenesis molecular_function calcium ion binding plasma membrane cell-cell adherens junction cell-cell junction assembly cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules synapse assembly cytoskeletal protein binding cell surface membrane integral component of membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules catenin complex adherens junction organization protein homodimerization activity cell-cell adhesion mediated by cadherin cadherin binding metal ion binding cell-cell adhesion integral component of postsynaptic membrane integral component of presynaptic membrane synaptic membrane adhesion uc003jgs.1 uc003jgs.2 uc003jgs.3 
ENST00000231061.9 SPARC ENST00000231061.9 Homo sapiens secreted protein acidic and cysteine rich (SPARC), transcript variant 1, mRNA. (from RefSeq NM_003118) D3DQH9 ENST00000231061.1 ENST00000231061.2 ENST00000231061.3 ENST00000231061.4 ENST00000231061.5 ENST00000231061.6 ENST00000231061.7 ENST00000231061.8 NM_003118 ON P09486 Q6IBK4 SPRC_HUMAN uc003lui.1 uc003lui.2 uc003lui.3 uc003lui.4 uc003lui.5 uc003lui.6 This gene encodes a cysteine-rich acidic matrix-associated protein. The encoded protein is required for the collagen in bone to become calcified but is also involved in extracellular matrix synthesis and promotion of changes to cell shape. The gene product has been associated with tumor suppression but has also been correlated with metastasis based on changes to cell shape which can promote tumor cell invasion. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2015]. Appears to regulate cell growth through interactions with the extracellular matrix and cytokines. Binds calcium and copper, several types of collagen, albumin, thrombospondin, PDGF and cell membranes. There are two calcium binding sites; an acidic domain that binds 5 to 8 Ca(2+) with a low affinity and an EF-hand loop that binds a Ca(2+) ion with a high affinity. Secreted, extracellular space, extracellular matrix, basement membrane. Note=In or around the basement membrane. Expressed at high levels in tissues undergoing morphogenesis, remodeling and wound repair. Belongs to the SPARC family. Contains 1 EF-hand domain. Contains 1 follistatin-like domain. Contains 1 Kazal-like domain. Sequence=AAA60993.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part; Name=Wikipedia; Note=Osteonectin entry; URL="http://en.wikipedia.org/wiki/Osteonectin"; ossification negative regulation of endothelial cell proliferation platelet degranulation extracellular matrix structural constituent calcium ion binding protein binding collagen binding extracellular region basement membrane extracellular space nucleus cytoplasm receptor-mediated endocytosis heart development response to gravity cell surface response to lead ion positive regulation of endothelial cell migration nuclear matrix negative regulation of angiogenesis regulation of cell morphogenesis extracellular matrix organization lung development extracellular matrix platelet alpha granule platelet alpha granule membrane platelet alpha granule lumen vesicle response to lipopolysaccharide response to L-ascorbic acid response to cytokine wound healing regulation of cell proliferation response to peptide hormone pigmentation synapse response to ethanol response to cadmium ion metal ion binding inner ear development regulation of synapse organization extracellular matrix binding response to glucocorticoid response to cAMP response to calcium ion bone development cellular response to growth factor stimulus endocytic vesicle lumen glutamatergic synapse mitochondrion plasma membrane uc003lui.1 uc003lui.2 uc003lui.3 uc003lui.4 uc003lui.5 uc003lui.6 
ENST00000231121.3 HAND1 ENST00000231121.3 Homo sapiens heart and neural crest derivatives expressed 1 (HAND1), mRNA. (from RefSeq NM_004821) BHLHA27 EHAND ENST00000231121.1 ENST00000231121.2 HAND1_HUMAN NM_004821 O96004 uc003lvn.1 uc003lvn.2 uc003lvn.3 uc003lvn.4 The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC021190.2, AF061756.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148874, SAMEA2153932 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231121.3/ ENSP00000231121.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Transcription factor that plays an essential role in both trophoblast-giant cells differentiation and in cardiac morphogenesis. In the adult, could be required for ongoing expression of cardiac-specific genes. Binds the DNA sequence 5'- NRTCTG-3' (non-canonical E-box) (By similarity). Efficient DNA binding requires dimerization with another bHLH protein. Forms homodimers and heterodimers with TCF3 gene products E12 and E47, HAND2 and HEY1, HEY2 and HEYL (hairy-related transcription factors). Interacts with MDFIC (By similarity). Nucleus, nucleoplasm (By similarity). Nucleus, nucleolus (By similarity). Note=Interaction with MDFIC sequesters it into the nucleolus, preventing the transcription factor activity. Phosphorylation by PLK4 disrupts the interaction with MDFIC and releases it from the nucleolus, leading to transcription factor activity (By similarity). Heart. Phosphorylation by PLK4 disrupts the interaction with MDFIC and leads to tranlocation into the nucleoplasm, allowing dimerization and transcription factor activity (By similarity). Contains 1 bHLH (basic helix-loop-helix) domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding angiogenesis in utero embryonic development mesoderm formation blastocyst development trophectodermal cell differentiation heart looping embryonic heart tube formation cardiac left ventricle formation cardiac right ventricle formation DNA binding transcription coactivator activity protein binding nucleus nucleoplasm nucleolus cytoplasm transcription from RNA polymerase II promoter multicellular organism development heart development transcription factor binding enzyme binding cell differentiation embryonic heart tube development odontogenesis of dentin-containing tooth identical protein binding protein homodimerization activity bHLH transcription factor binding negative regulation of sequence-specific DNA binding transcription factor activity sequence-specific DNA binding negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity protein dimerization activity ventricular cardiac muscle tissue morphogenesis cardiac septum morphogenesis mesenchyme development cartilage morphogenesis trophoblast giant cell differentiation determination of heart left/right asymmetry RNA polymerase II transcription factor complex negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding transcription regulatory region DNA binding uc003lvn.1 uc003lvn.2 uc003lvn.3 uc003lvn.4 
ENST00000231130.3 PCDHB3 ENST00000231130.3 Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. (from RefSeq NM_018937) B2R8P2 ENST00000231130.1 ENST00000231130.2 NM_018937 PCDB3_HUMAN Q9Y5E6 uc003lio.1 uc003lio.2 uc003lio.3 uc003lio.4 uc003lio.5 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: AK313451.1, AF217755.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231130.3/ ENSP00000231130.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. Cell membrane; Single-pass type I membrane protein (By similarity). Contains 6 cadherin domains. calcium ion binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules chemical synaptic transmission nervous system development synapse assembly membrane integral component of membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules uc003lio.1 uc003lio.2 uc003lio.3 uc003lio.4 uc003lio.5 
ENST00000231134.8 PCDHB5 ENST00000231134.8 Homo sapiens protocadherin beta 5 (PCDHB5), mRNA. (from RefSeq NM_015669) ENST00000231134.1 ENST00000231134.2 ENST00000231134.3 ENST00000231134.4 ENST00000231134.5 ENST00000231134.6 ENST00000231134.7 NM_015669 PCDB5_HUMAN Q549F4 Q9UFU9 Q9Y5E4 uc003liq.1 uc003liq.2 uc003liq.3 uc003liq.4 uc003liq.5 uc003liq.6 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: SRR1660807.168422.1, SRR1660803.263366.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231134.8/ ENSP00000231134.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. Cell membrane; Single-pass type I membrane protein (By similarity). Contains 6 cadherin domains. calcium ion binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules chemical synaptic transmission synapse assembly membrane integral component of membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules uc003liq.1 uc003liq.2 uc003liq.3 uc003liq.4 uc003liq.5 uc003liq.6 
ENST00000231136.4 PCDHB6 ENST00000231136.4 Homo sapiens protocadherin beta 6 (PCDHB6), transcript variant 1, mRNA. (from RefSeq NM_018939) ENST00000231136.1 ENST00000231136.2 ENST00000231136.3 NM_018939 PCDB6_HUMAN Q9Y5E3 uc003lir.1 uc003lir.2 uc003lir.3 uc003lir.4 uc003lir.5 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. Unlike the alpha and gamma clusters, the transcripts from these genes do not share common 3' exons. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell neural connections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. Cell membrane; Single-pass type I membrane protein (By similarity). Contains 6 cadherin domains. calcium ion binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules chemical synaptic transmission nervous system development synapse assembly cell-cell recognition membrane integral component of membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules identical protein binding metal ion binding uc003lir.1 uc003lir.2 uc003lir.3 uc003lir.4 uc003lir.5 
ENST00000231137.6 PCDHB7 ENST00000231137.6 Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. (from RefSeq NM_018940) A1L3Y8 ENST00000231137.1 ENST00000231137.2 ENST00000231137.3 ENST00000231137.4 ENST00000231137.5 NM_018940 PCDB7_HUMAN Q9Y5E2 uc003lit.1 uc003lit.2 uc003lit.3 uc003lit.4 uc003lit.5 uc003lit.6 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. The transcript for this particular family member uses more than one polyadenylation site. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: SRR1803616.27540.1, AF217750.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231137.6/ ENSP00000231137.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. Cell membrane; Single-pass type I membrane protein (By similarity). Contains 6 cadherin domains. calcium ion binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules membrane integral component of membrane uc003lit.1 uc003lit.2 uc003lit.3 uc003lit.4 uc003lit.5 uc003lit.6 
ENST00000231173.6 PCDHB15 ENST00000231173.6 Homo sapiens protocadherin beta 15 (PCDHB15), mRNA. (from RefSeq NM_018935) ENST00000231173.1 ENST00000231173.2 ENST00000231173.3 ENST00000231173.4 ENST00000231173.5 NM_018935 PCDBF_HUMAN Q8IUX5 Q9Y5E8 uc003lje.1 uc003lje.2 uc003lje.3 uc003lje.4 uc003lje.5 uc003lje.6 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: SRR1803616.131073.1, SRR1803615.178351.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231173.6/ ENSP00000231173.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. Cell membrane; Single-pass type I membrane protein (By similarity). Contains 6 cadherin domains. calcium ion binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules nervous system development membrane integral component of membrane photoreceptor connecting cilium uc003lje.1 uc003lje.2 uc003lje.3 uc003lje.4 uc003lje.5 uc003lje.6 
ENST00000231198.12 THG1L ENST00000231198.12 Homo sapiens tRNA-histidine guanylyltransferase 1 like (THG1L), transcript variant 1, mRNA. (from RefSeq NM_017872) D3DQJ5 ENST00000231198.1 ENST00000231198.10 ENST00000231198.11 ENST00000231198.2 ENST00000231198.3 ENST00000231198.4 ENST00000231198.5 ENST00000231198.6 ENST00000231198.7 ENST00000231198.8 ENST00000231198.9 ICF45 NM_017872 Q53G12 Q7L5R3 Q9H0S2 Q9NWX6 THG1_HUMAN uc003lxd.1 uc003lxd.2 uc003lxd.3 uc003lxd.4 uc003lxd.5 The protein encoded by this gene is a mitochondrial protein that is induced by high levels of glucose and is associated with diabetic nephropathy. The encoded protein appears to increase mitochondrial biogenesis, which could lead to renal fibrosis. Another function of this protein is that of a guanyltransferase, adding GMP to the 5' end of tRNA(His). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]. Adds a GMP to the 5'-end of tRNA(His) after transcription and RNase P cleavage. This step is essential for proper recognition of the tRNA and for the fidelity of protein synthesis. p-tRNA(His) + ATP + GTP = pppG-P-tRNA(His) + AMP + diphosphate. Binds 2 magnesium ions per subunit. Homotetramer. Cytoplasm. Note=Found near the nuclear membrane. Expressed in many tissues. Phosphorylated upon DNA damage, probably by ATM or ATR (By similarity). Belongs to the tRNA(His) guanylyltransferase family. Sequence=AAH01523.2; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH01852.2; Type=Erroneous initiation; Note=Translation N-terminally extended; tRNA binding nucleotide binding magnesium ion binding protein binding ATP binding GTP binding cytoplasm mitochondrion cytosol tRNA modification tRNA processing tRNA guanylyltransferase activity transferase activity nucleotidyltransferase activity identical protein binding metal ion binding protein homotetramerization tRNA 5'-end processing transferase complex uc003lxd.1 uc003lxd.2 uc003lxd.3 uc003lxd.4 uc003lxd.5 
ENST00000231228.3 IL12B ENST00000231228.3 Homo sapiens interleukin 12B (IL12B), mRNA. (from RefSeq NM_002187) ENST00000231228.1 ENST00000231228.2 IL12B_HUMAN NKSF2 NM_002187 P29460 uc003lxr.1 uc003lxr.2 uc003lxr.3 This gene encodes a subunit of interleukin 12, a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. Interleukin 12 is a disulfide-linked heterodimer composed of the 40 kD cytokine receptor like subunit encoded by this gene, and a 35 kD subunit encoded by IL12A. This cytokine is expressed by activated macrophages that serve as an essential inducer of Th1 cells development. This cytokine has been found to be important for sustaining a sufficient number of memory/effector Th1 cells to mediate long-term protection to an intracellular pathogen. Overexpression of this gene was observed in the central nervous system of patients with multiple sclerosis (MS), suggesting a role of this cytokine in the pathogenesis of the disease. The promoter polymorphism of this gene has been reported to be associated with the severity of atopic and non-atopic asthma in children. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M65290.1, M65272.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231228.3/ ENSP00000231228.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Cytokine that can act as a growth factor for activated T and NK cells, enhance the lytic activity of NK/lymphokine- activated killer cells, and stimulate the production of IFN-gamma by resting PBMC. Associates with IL23A to form the IL-23 interleukin, a heterodimeric cytokine which functions in innate and adaptive immunity. IL-23 may constitute with IL-17 an acute response to infection in peripheral tissues. IL-23 binds to a heterodimeric receptor complex composed of IL12RB1 and IL23R, activates the Jak- Stat signaling cascade, stimulates memory rather than naive T- cells and promotes production of proinflammatory cytokines. IL-23 induces autoimmune inflammation and thus may be responsible for autoimmune inflammatory diseases and may be important for tumorigenesis. Heterodimer with IL12A; disulfide-linked. The heterodimer is known as interleukin IL-12. Heterodimer with IL23A; disulfide- linked. The heterodimer is known as interleukin IL-23. Also secreted as a monomer. Self; NbExp=2; IntAct=EBI-1029614, EBI-1029614; P29459:IL12A; NbExp=2; IntAct=EBI-1029614, EBI-1029636; Q9EQ14:Il23a (xeno); NbExp=2; IntAct=EBI-1029614, EBI-2481329; Secreted. Known to be C-mannosylated in the recombinant protein; it is not yet known for sure if the wild-type protein is also modified. Defects in IL12B are a cause of mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]; also known as familial disseminated atypical mycobacterial infection. This rare condition confers predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. The pathogenic mechanism underlying MSMD is the impairment of interferon-gamma mediated immunity, whose severity determines the clinical outcome. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. Genetic variations in IL12B are a cause of susceptibility to psoriasis type 11 (PSORS11) [MIM:612599]. Psoriasis is a common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. Belongs to the type I cytokine receptor family. Type 3 subfamily. Contains 1 fibronectin type-III domain. Contains 1 Ig-like C2-type (immunoglobulin-like) domain. Name=IL12Bbase; Note=IL12B mutation db; URL="http://bioinf.uta.fi/IL12Bbase/"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IL12B"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il12b/"; positive regulation of T cell mediated cytotoxicity positive regulation of defense response to virus by host natural killer cell activation involved in immune response positive regulation of T-helper 1 type immune response positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target negative regulation of inflammatory response to antigenic stimulus cytokine receptor activity cytokine activity cytokine receptor binding interleukin-12 receptor binding protein binding extracellular region extracellular space cytoplasm endoplasmic reticulum lumen cytosol cell cycle arrest cell surface receptor signaling pathway cell proliferation external side of plasma membrane cell surface response to organic substance response to UV-B positive regulation of activation of Janus kinase activity membrane cell migration cytokine-mediated signaling pathway sensory perception of pain sexual reproduction cytokine binding natural killer cell activation late endosome lumen negative regulation of interleukin-10 production negative regulation of interleukin-17 production positive regulation of granulocyte macrophage colony-stimulating factor production positive regulation of interferon-gamma production positive regulation of interleukin-10 production positive regulation of interleukin-12 production positive regulation of interleukin-17 production positive regulation of tumor necrosis factor production positive regulation of natural killer cell activation positive regulation of natural killer cell proliferation positive regulation of mononuclear cell proliferation positive regulation of tissue remodeling positive regulation of smooth muscle cell apoptotic process interleukin-12-mediated signaling pathway T-helper 1 cell cytokine production interleukin-23-mediated signaling pathway regulation of cytokine biosynthetic process T-helper 1 type immune response T-helper cell differentiation interferon-gamma biosynthetic process positive regulation of T cell proliferation positive regulation of activated T cell proliferation interleukin-12 alpha subunit binding regulation of tyrosine phosphorylation of STAT protein positive regulation of tyrosine phosphorylation of STAT protein identical protein binding protein homodimerization activity defense response to protozoan receptor complex positive regulation of memory T cell differentiation interleukin-12 complex positive regulation of interferon-gamma biosynthetic process positive regulation of osteoclast differentiation positive regulation of cell adhesion protein heterodimerization activity negative regulation of smooth muscle cell proliferation positive regulation of lymphocyte proliferation positive regulation of inflammatory response defense response to Gram-negative bacterium positive regulation of NK T cell activation positive regulation of NK T cell proliferation defense response to virus interleukin-23 complex cellular response to lipopolysaccharide cellular response to interferon-gamma positive regulation of NIK/NF-kappaB signaling positive regulation of T-helper 17 type immune response positive regulation of T-helper 17 cell lineage commitment growth factor activity interleukin-23 receptor binding uc003lxr.1 uc003lxr.2 uc003lxr.3 
ENST00000231368.10 LNPEP ENST00000231368.10 Homo sapiens leucyl and cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA. (from RefSeq NM_005575) ENST00000231368.1 ENST00000231368.2 ENST00000231368.3 ENST00000231368.4 ENST00000231368.5 ENST00000231368.6 ENST00000231368.7 ENST00000231368.8 ENST00000231368.9 LCAP_HUMAN NM_005575 O00769 OTASE Q15145 Q59H76 Q9TNQ2 Q9TNQ3 Q9UIQ6 Q9UIQ7 uc003kmv.1 uc003kmv.2 uc003kmv.3 This gene encodes a zinc-dependent aminopeptidase that cleaves vasopressin, oxytocin, lys-bradykinin, met-enkephalin, dynorphin A and other peptide hormones. The protein can be secreted in maternal serum, reside in intracellular vesicles with the insulin-responsive glucose transporter GLUT4, or form a type II integral membrane glycoprotein. The protein catalyzes the final step in the conversion of angiotensinogen to angiotensin IV (AT4) and is also a receptor for AT4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. Release of an N-terminal amino acid, cleaves before cysteine, leucine as well as other amino acids. Degrades peptide hormones such as oxytocin, vasopressin and angiotensin III, and plays a role in maintaining homeostasis during pregnancy. May be involved in the inactivation of neuronal peptides in the brain. Cleaves Met-enkephalin and dynorphin. Binds angiotensin IV and may be the angiotensin IV receptor in the brain. Release of an N-terminal amino acid, Cys-|- Xaa-, in which the half-cystine residue is involved in a disulfide loop, notably in oxytocin or vasopressin. Hydrolysis rates on a range of aminoacyl arylamides exceed that for the cystinyl derivative, however. Binds 1 zinc ion per subunit (By similarity). Homodimer. Binds tankyrases 1 and 2. Cell membrane; Single-pass type II membrane protein. Note=In brain only the membrane-bound form is found. The protein resides in intracellular vesicles together with GLUT4 and can then translocate to the cell surface in response to insulin and/or oxytocin. Localization may be determined by dileucine internalization motifs, and/or by interaction with tankyrases. Leucyl-cystinyl aminopeptidase, pregnancy serum form: Secreted. Note=During pregnancy serum levels are low in the first trimester, rise progressively during the second and third trimester and decrease rapidly after parturition. Event=Alternative splicing; Named isoforms=3; Comment=Experimental confirmation may be lacking for some isoforms; Name=1; IsoId=Q9UIQ6-1; Sequence=Displayed; Name=2; IsoId=Q9UIQ6-2; Sequence=VSP_005448; Name=3; IsoId=Q9UIQ6-3; Sequence=VSP_005449; Highly expressed in placenta, heart, kidney and small intestine. Detected at lower levels in neuronal cells in the brain, in skeletal muscle, spleen, liver, testes and colon. The pregnancy serum form is derived from the membrane-bound form by proteolytic processing. N-glycosylated. Belongs to the peptidase M1 family. Sequence=BAA09436.1; Type=Erroneous initiation; Sequence=BAD92120.1; Type=Frameshift; Positions=405; protein polyubiquitination antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent aminopeptidase activity protein binding extracellular region cytoplasm lysosomal membrane cytosol plasma membrane integral component of plasma membrane proteolysis cell-cell signaling female pregnancy peptidase activity metallopeptidase activity zinc ion binding membrane integral component of membrane hydrolase activity protein catabolic process cytoplasmic vesicle membrane early endosome lumen peptide binding peptide catabolic process metal ion binding perinuclear region of cytoplasm SMAD protein signal transduction metalloaminopeptidase activity uc003kmv.1 uc003kmv.2 uc003kmv.3 
ENST00000231420.11 AGXT2 ENST00000231420.11 Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_031900) AGT2 AGT2_HUMAN ENST00000231420.1 ENST00000231420.10 ENST00000231420.2 ENST00000231420.3 ENST00000231420.4 ENST00000231420.5 ENST00000231420.6 ENST00000231420.7 ENST00000231420.8 ENST00000231420.9 NM_031900 Q53FB4 Q53FY7 Q53G03 Q5W7Q1 Q9BYV1 uc003jjf.1 uc003jjf.2 uc003jjf.3 uc003jjf.4 uc003jjf.5 The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. It is an important regulator of methylarginines and is involved in the control of blood pressure in kidney. Polymorphisms in this gene affect methylarginine and beta-aminoisobutyrate metabolism, and are associated with carotid atherosclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. L-alanine + glyoxylate = pyruvate + glycine. (R)-3-amino-2-methylpropanoate + pyruvate = 2- methyl-3-oxopropanoate + L-alanine. Pyridoxal phosphate. Homotetramer (By similarity). Mitochondrion (Potential). Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family. catalytic activity mitochondrion mitochondrial matrix alanine-glyoxylate transaminase activity transaminase activity glyoxylate catabolic process transferase activity glycine biosynthetic process, by transamination of glyoxylate L-alanine catabolic process, by transamination pyridoxal phosphate binding positive regulation of nitric oxide biosynthetic process glyoxylate metabolic process (R)-3-amino-2-methylpropionate-pyruvate transaminase activity uc003jjf.1 uc003jjf.2 uc003jjf.3 uc003jjf.4 uc003jjf.5 
ENST00000231449.7 IL4 ENST00000231449.7 Homo sapiens interleukin 4 (IL4), transcript variant 1, mRNA. (from RefSeq NM_000589) ENST00000231449.1 ENST00000231449.2 ENST00000231449.3 ENST00000231449.4 ENST00000231449.5 ENST00000231449.6 IL4_HUMAN NM_000589 P05112 Q14630 uc003kxk.1 uc003kxk.2 uc003kxk.3 uc003kxk.4 The protein encoded by this gene is a pleiotropic cytokine produced by activated T cells. This cytokine is a ligand for interleukin 4 receptor. The interleukin 4 receptor also binds to IL13, which may contribute to many overlapping functions of this cytokine and IL13. STAT6, a signal transducer and activator of transcription, has been shown to play a central role in mediating the immune regulatory signal of this cytokine. This gene, IL3, IL5, IL13, and CSF2 form a cytokine gene cluster on chromosome 5q, with this gene particularly close to IL13. This gene, IL13 and IL5 are found to be regulated coordinately by several long-range regulatory elements in an over 120 kilobase range on the chromosome. IL4 is considered an important cytokine for tissue repair, counterbalancing the effects of proinflammatory type 1 cytokines, however, it also promotes allergic airway inflammation. Moreover, IL-4, a type 2 cytokine, mediates and regulates a variety of human host responses such as allergic, anti-parasitic, wound healing, and acute inflammation. This cytokine has been reported to promote resolution of neutrophil-mediated acute lung injury. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2020]. Participates in at least several B-cell activation processes as well as of other cell types. It is a costimulator of DNA-synthesis. It induces the expression of class II MHC molecules on resting B-cells. It enhances both secretion and cell surface expression of IgE and IgG1. It also regulates the expression of the low affinity Fc receptor for IgE (CD23) on both lymphocytes and monocytes. P78552:IL13RA1; NbExp=3; IntAct=EBI-367025, EBI-1391535; P24394:IL4R; NbExp=5; IntAct=EBI-367025, EBI-367009; Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Long; IsoId=P05112-1; Sequence=Displayed; Name=2; Synonyms=Short, IL-4delta2; IsoId=P05112-2; Sequence=VSP_002672; Genetic variations in IL4 may be a cause of susceptibility to ischemic stroke (ISCHSTR) [MIM:601367]; also known as cerebrovascular accident or cerebral infarction. A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. Belongs to the IL-4/IL-13 family. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il4/"; cytokine activity cytokine receptor binding interleukin-4 receptor binding protein binding extracellular region extracellular space immune response growth factor activity cholesterol metabolic process positive regulation of gene expression negative regulation of epithelial cell migration positive regulation of macroautophagy cytokine-mediated signaling pathway B cell differentiation positive regulation of B cell proliferation positive regulation of interleukin-13 production T-helper 2 cell cytokine production type 2 immune response positive regulation of T cell proliferation T cell activation B cell activation regulation of phosphorylation positive regulation of tyrosine phosphorylation of STAT protein negative regulation of tumor necrosis factor biosynthetic process activation of Janus kinase activity myeloid dendritic cell differentiation negative regulation of apoptotic process connective tissue growth factor biosynthetic process regulation of isotype switching positive regulation of MHC class II biosynthetic process positive regulation of T cell differentiation negative regulation of osteoclast differentiation negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter positive regulation of receptor-mediated endocytosis positive regulation of isotype switching to IgE isotypes positive regulation of isotype switching to IgG isotypes regulation of immune response dendritic cell differentiation positive regulation of beta-amyloid clearance positive regulation of cellular respiration negative regulation of complement-dependent cytotoxicity negative regulation of endothelial cell apoptotic process positive regulation of ATP biosynthetic process uc003kxk.1 uc003kxk.2 uc003kxk.3 uc003kxk.4 
ENST00000231454.6 IL5 ENST00000231454.6 Homo sapiens interleukin 5 (IL5), mRNA. (from RefSeq NM_000879) ENST00000231454.1 ENST00000231454.2 ENST00000231454.3 ENST00000231454.4 ENST00000231454.5 IL5_HUMAN NM_000879 P05113 Q13840 uc003kxe.1 uc003kxe.2 This gene encodes a cytokine that acts as a growth and differentiation factor for both B cells and eosinophils. The encoded cytokine plays a major role in the regulation of eosinophil formation, maturation, recruitment and survival. The increased production of this cytokine may be related to pathogenesis of eosinophil-dependent inflammatory diseases. This cytokine functions by binding to its receptor, which is a heterodimer, whose beta subunit is shared with the receptors for interleukine 3 (IL3) and colony stimulating factor 2 (CSF2/GM-CSF). This gene is located on chromosome 5 within a cytokine gene cluster which includes interleukin 4 (IL4), interleukin 13 (IL13), and CSF2 . This gene, IL4, and IL13 may be regulated coordinately by long-range regulatory elements spread over 120 kilobases on chromosome 5q31. [provided by RefSeq, Jul 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X04688.1, X12705.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231454.6/ ENSP00000231454.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Factor that induces terminal differentiation of late- developing B-cells to immunoglobulin secreting cells. Homodimer; disulfide-linked. P32927:CSF2RB; NbExp=2; IntAct=EBI-2435811, EBI-1809771; Q01344:IL5RA; NbExp=2; IntAct=EBI-2435811, EBI-1759442; Secreted. Belongs to the IL-5 family. Name=R&D Systems' cytokine mini-reviews: IL-5; URL="http://www.rndsystems.com/molecule_detail.aspx?m=1646"; Name=Wikipedia; Note=Interleukin-5 entry; URL="http://en.wikipedia.org/wiki/Interleukin_5"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il5/"; MAPK cascade cytokine activity interleukin-5 receptor binding protein binding extracellular region extracellular space inflammatory response immune response growth factor activity positive regulation of cell proliferation cytokine-mediated signaling pathway positive regulation of B cell proliferation positive regulation of eosinophil differentiation positive regulation of transcription, DNA-templated positive regulation of JAK-STAT cascade positive regulation of peptidyl-tyrosine phosphorylation positive regulation of immunoglobulin secretion positive regulation of sequence-specific DNA binding transcription factor activity positive regulation of podosome assembly uc003kxe.1 uc003kxe.2 
ENST00000231461.10 ST8SIA4 ENST00000231461.10 Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA. (from RefSeq NM_005668) A8KA07 ENST00000231461.1 ENST00000231461.2 ENST00000231461.3 ENST00000231461.4 ENST00000231461.5 ENST00000231461.6 ENST00000231461.7 ENST00000231461.8 ENST00000231461.9 NM_005668 PST PST1 Q92187 Q92693 SIA8D_HUMAN SIAT8D uc003knk.1 uc003knk.2 uc003knk.3 uc003knk.4 uc003knk.5 uc003knk.6 The protein encoded by this gene catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). The encoded protein, which is a member of glycosyltransferase family 29, is a type II membrane protein that may be present in the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid (PSA), which is present on the embryonic neural cell adhesion molecule (N-CAM), necessary for plasticity of neural cells. Protein modification; protein glycosylation. Golgi apparatus membrane; Single-pass type II membrane protein (Potential). Highly expressed in fetal brain, lung and kidney and in adult heart, spleen and thymus. Present to a lesser extent in adult brain, placenta, lung, large and small intestine and peripheral blood leukocytes. Belongs to the glycosyltransferase 29 family. Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ST8SIA4"; Name=Functional Glycomics Gateway - GTase; Note=ST8Sia IV; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_639"; Golgi membrane ganglioside biosynthetic process alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity Golgi apparatus cellular protein modification process protein glycosylation N-glycan processing nervous system development sialyltransferase activity oligosaccharide metabolic process membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups sialic acid binding sialylation uc003knk.1 uc003knk.2 uc003knk.3 uc003knk.4 uc003knk.5 uc003knk.6 
ENST00000231484.4 PCDH12 ENST00000231484.4 Homo sapiens protocadherin 12 (PCDH12), mRNA. (from RefSeq NM_016580) ENST00000231484.1 ENST00000231484.2 ENST00000231484.3 NM_016580 PCD12_HUMAN Q6UXB6 Q96KB8 Q9H7Y6 Q9H8E0 Q9NPG4 UNQ395/PRO731 uc003llx.1 uc003llx.2 uc003llx.3 uc003llx.4 uc003llx.5 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene localizes to the region on chromosome 5 where the protocadherin gene clusters reside. The exon organization of this transcript is similar to that of the gene cluster transcripts, notably the first large exon, but no significant sequence homology exists. The function of this cellular adhesion protein is undetermined but mouse protocadherin 12 does not bind catenins and appears to have no affect on cell migration or growth. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF240635.1, AF231025.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## Cellular adhesion molecule that may play an important role in cell-cell interactions at interendothelial junctions. Promotes homotypic calcium-dependent aggregation and adhesion and clusters at intercellular junctions. Unable to bind to catenins, weakly associates with the cytoskeleton (By similarity). Cell membrane; Single-pass type I membrane protein. Cell junction. Expressed in highly vascularized tissues including the heart and placenta, but most tissues contain a low level of expression. Prominent expression in the spleen. Contains 6 cadherin domains. calcium ion binding extracellular region plasma membrane integral component of plasma membrane cell-cell junction glycogen metabolic process cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules neuron recognition membrane integral component of membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules cell junction labyrinthine layer development extracellular exosome uc003llx.1 uc003llx.2 uc003llx.3 uc003llx.4 uc003llx.5 
ENST00000231498.8 NUP155 ENST00000231498.8 Homo sapiens nucleoporin 155 (NUP155), transcript variant 1, mRNA. (from RefSeq NM_153485) ENST00000231498.1 ENST00000231498.2 ENST00000231498.3 ENST00000231498.4 ENST00000231498.5 ENST00000231498.6 ENST00000231498.7 KIAA0791 NM_153485 NU155_HUMAN O75694 Q9UBE9 Q9UFL5 uc003jku.1 uc003jku.2 uc003jku.3 uc003jku.4 Nucleoporins are proteins that play an important role in the assembly and functioning of the nuclear pore complex (NPC) which regulates the movement of macromolecules across the nuclear envelope (NE). The protein encoded by this gene plays a role in the fusion of NE vesicles and formation of the double membrane NE. The protein may also be involved in cardiac physiology and may be associated with the pathogenesis of atrial fibrillation. Alternative splicing results in multiple transcript variants of this gene. A pseudogene associated with this gene is located on chromosome 6. [provided by RefSeq, May 2013]. Essential component of nuclear pore complex. Nucleoporins may be involved both in binding and translocating proteins during nucleocytoplasmic transport (By similarity). Interacts with GLE1. Able to form a heterotrimer with GLE1 and NUPL2 in vitro. Forms a complex with NUP53, NUP93, NUP205 and lamin B. Nucleus, nuclear pore complex (By similarity). Nucleus membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Nucleus membrane; Peripheral membrane protein; Nucleoplasmic side (By similarity). Note=In mitosis, assumes a diffuse cytoplasmic distribution probably as a monomer, before reversing back into a punctate nuclear surface localization at the end of mitosis (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75694-1; Sequence=Displayed; Name=2; IsoId=O75694-2; Sequence=VSP_014437; Note=No experimental confirmation available; Expressed in all tissues tested, including heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Phosphorylated. Phosphorylation and dephosphorylation may be important for the function of NUP155 and may play a role in the reversible disassembly of the nuclear pore complex during mitosis (By similarity). Belongs to the non-repetitive/WGA-negative nucleoporin family. Sequence=AAD52966.1; Type=Erroneous gene model prediction; Sequence=BAA34511.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery protein binding nucleus nuclear envelope nuclear pore regulation of glycolytic process mRNA export from nucleus tRNA export from nucleus protein import into nucleus nucleocytoplasmic transport nuclear envelope organization protein transport membrane viral process protein sumoylation structural constituent of nuclear pore viral transcription nuclear membrane protein targeting to nuclear inner membrane host cell nuclear pore inner ring mRNA transport regulation of gene silencing by miRNA intracellular transport of virus atrial cardiac muscle cell action potential regulation of cellular response to heat uc003jku.1 uc003jku.2 uc003jku.3 uc003jku.4 
ENST00000231512.5 C5orf15 ENST00000231512.5 Homo sapiens chromosome 5 open reading frame 15 (C5orf15), mRNA. (from RefSeq NM_020199) B2RD10 D3DQ92 ENST00000231512.1 ENST00000231512.2 ENST00000231512.3 ENST00000231512.4 HTGN29 KCT2 KCT2_HUMAN NM_020199 Q8NC54 Q9NRG2 uc003kyo.1 uc003kyo.2 uc003kyo.3 uc003kyo.4 uc003kyo.5 Membrane; Single-pass type I membrane protein (Potential). Widely expressed. membrane integral component of membrane uc003kyo.1 uc003kyo.2 uc003kyo.3 uc003kyo.4 uc003kyo.5 
ENST00000231524.14 TRIM23 ENST00000231524.14 Homo sapiens tripartite motif containing 23 (TRIM23), transcript variant alpha, mRNA. (from RefSeq NM_001656) ARD1 ARFD1 ENST00000231524.1 ENST00000231524.10 ENST00000231524.11 ENST00000231524.12 ENST00000231524.13 ENST00000231524.2 ENST00000231524.3 ENST00000231524.4 ENST00000231524.5 ENST00000231524.6 ENST00000231524.7 ENST00000231524.8 ENST00000231524.9 NM_001656 P36406 Q9BZY4 Q9BZY5 RNF46 TRI23_HUMAN uc003jty.1 uc003jty.2 uc003jty.3 uc003jty.4 uc003jty.5 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein is also a member of the ADP ribosylation factor family of guanine nucleotide-binding family of proteins. Its carboxy terminus contains an ADP-ribosylation factor domain and a guanine nucleotide binding site, while the amino terminus contains a GTPase activating protein domain which acts on the guanine nucleotide binding site. The protein localizes to lysosomes and the Golgi apparatus. It plays a role in the formation of intracellular transport vesicles, their movement from one compartment to another, and phopholipase D activation. Three alternatively spliced transcript variants for this gene have been described. [provided by RefSeq, Jul 2008]. Acts as an E3 ubiquitin-protein ligase. In the presence of the human cytomegalovirus (HCMV) protein UL144, participates in 'Lys-63'-linked auto-ubiquitination of TRAF6 resulting in the virally controlled activation of NF-kappa-B at early time of infection. The C-terminus can act as an allosteric activator of the cholera toxin catalytic subunit. Protein modification; protein ubiquitination. Interacts with PSCD1. Interacts with human cytomegalovirus protein UL144; this interaction might causes auto- ubiquitination of TRAF6, leading to NF-kappaB activation. Self; NbExp=3; IntAct=EBI-740098, EBI-740098; P55040:GEM; NbExp=3; IntAct=EBI-740098, EBI-744104; Endomembrane system. Golgi apparatus membrane. Lysosome membrane. Note=Membrane-associated with the Golgi complex and lysosomal structures. Event=Alternative splicing; Named isoforms=3; Name=Alpha; IsoId=P36406-1; Sequence=Displayed; Name=Beta; IsoId=P36406-2; Sequence=VSP_000296; Name=Gamma; IsoId=P36406-3; Sequence=VSP_000297; The RING-type zinc finger domain is responsible for E3 ubiquitin ligase activity. In the C-terminal section; belongs to the small GTPase superfamily. Arf family. Contains 1 B box-type zinc finger. Contains 1 RING-type zinc finger. Golgi membrane nucleotide binding immune system process nucleic acid binding GTPase activity ubiquitin-protein transferase activity protein binding GTP binding nucleus cytoplasm lysosome lysosomal membrane Golgi apparatus plasma membrane intracellular protein transport enzyme activator activity zinc ion binding endomembrane system membrane viral process vesicle-mediated transport protein ubiquitination transferase activity GDP binding identical protein binding positive regulation of catalytic activity innate immune response metal ion binding uc003jty.1 uc003jty.2 uc003jty.3 uc003jty.4 uc003jty.5 
ENST00000231572.8 RARS1 ENST00000231572.8 Homo sapiens arginyl-tRNA synthetase 1 (RARS1), mRNA. (from RefSeq NM_002887) B2RBS9 ENST00000231572.1 ENST00000231572.2 ENST00000231572.3 ENST00000231572.4 ENST00000231572.5 ENST00000231572.6 ENST00000231572.7 NM_002887 P54136 Q53GY4 Q9BWA1 RARS SYRC_HUMAN uc003lzx.1 uc003lzx.2 uc003lzx.3 uc003lzx.4 uc003lzx.5 Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Arginyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1146952.1, SRR1803616.190698.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231572.8/ ENSP00000231572.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Forms part of a macromolecular complex that catalyzes the attachment of specific amino acids to cognate tRNAs during protein synthesis. Modulates the secretion of AIMP1 and may be involved in generation of the inflammatory cytokine EMAP2 from AIMP1. ATP + L-arginine + tRNA(Arg) = AMP + diphosphate + L-arginyl-tRNA(Arg). Kinetic parameters: KM=3.9 uM for arginine (ATP-PPi exchange at 37 degrees Celsius); KM=3.5 uM for arginine (arginylation at 37 degrees Celsius); KM=1183 uM for ATP (ATP-PPi exchange at 37 Celsius); KM=910 uM for ATP (arginylation at 37 Celsius); KM=0.05 uM for calf liver tRNA-Arg (ATP-PPi exchange at 37 Celsius); KM=0.41 uM for calf liver tRNA-Arg (arginylation at 37 Celsius); Interacts (via N-terminus) with AIMP1 (via N-terminus); this stimulates its catalytic activity. Interacts (via N-terminus) with LARS2 (via C-terminus). Monomer; also part of a multisubunit complex that groups tRNA ligases for Arg, Asp, Glu, Gln, Ile, Leu, Lys, Met and Pro. Q9P2J5:LARS; NbExp=3; IntAct=EBI-355482, EBI-356077; Cytoplasm. Event=Alternative initiation; Named isoforms=2; Name=Complexed; IsoId=P54136-1; Sequence=Displayed; Name=Monomeric; IsoId=P54136-2; Sequence=VSP_018905; The N-terminus (AA 1-72) has two regions predicted to be alpha-helical that might be involved in the multisynthetase complex assembly. Belongs to the class-I aminoacyl-tRNA synthetase family. tRNA binding nucleotide binding aminoacyl-tRNA ligase activity arginine-tRNA ligase activity protein binding ATP binding nucleus nucleoplasm cytoplasm cytosol translation tRNA aminoacylation for protein translation arginyl-tRNA aminoacylation membrane ligase activity aminoacyl-tRNA synthetase multienzyme complex arginine binding cadherin binding extracellular exosome uc003lzx.1 uc003lzx.2 uc003lzx.3 uc003lzx.4 uc003lzx.5 
ENST00000231656.13 CDX1 ENST00000231656.13 Homo sapiens caudal type homeobox 1 (CDX1), mRNA. (from RefSeq NM_001804) CDX1_HUMAN ENST00000231656.1 ENST00000231656.10 ENST00000231656.11 ENST00000231656.12 ENST00000231656.2 ENST00000231656.3 ENST00000231656.4 ENST00000231656.5 ENST00000231656.6 ENST00000231656.7 ENST00000231656.8 ENST00000231656.9 NM_001804 P47902 Q4VAU4 Q9NYK8 uc003lrq.1 uc003lrq.2 uc003lrq.3 uc003lrq.4 uc003lrq.5 This gene is a member of the caudal-related homeobox transcription factor gene family. The encoded DNA-binding protein regulates intestine-specific gene expression and enterocyte differentiation. It has been shown to induce expression of the intestinal alkaline phosphatase gene, and inhibit beta-catenin/T-cell factor transcriptional activity. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U51095.1, U15212.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231656.13/ ENSP00000231656.7 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Could play a role in the terminal differentiation of the intestine. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P47902-1; Sequence=Displayed; Name=2; IsoId=P47902-2; Sequence=VSP_021030; Intestinal epithelium. Belongs to the Caudal homeobox family. Contains 1 homeobox DNA-binding domain. nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development pattern specification process methyl-CpG binding animal organ morphogenesis anterior/posterior axis specification anterior/posterior pattern specification regulation of somitogenesis cell differentiation sequence-specific DNA binding transcription regulatory region DNA binding positive regulation of transcription from RNA polymerase II promoter bone morphogenesis uc003lrq.1 uc003lrq.2 uc003lrq.3 uc003lrq.4 uc003lrq.5 
ENST00000231706.6 SLC7A14 ENST00000231706.6 Homo sapiens solute carrier family 7 member 14 (SLC7A14), mRNA. (from RefSeq NM_020949) B3KV33 ENST00000231706.1 ENST00000231706.2 ENST00000231706.3 ENST00000231706.4 ENST00000231706.5 KIAA1613 NM_020949 Q8TBB6 Q9HCF9 S7A14_HUMAN uc003fgz.1 uc003fgz.2 uc003fgz.3 uc003fgz.4 This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1660809.185681.1, SRR1660805.215668.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231706.6/ ENSP00000231706.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Membrane; Multi-pass membrane protein (Potential). Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family. Sequence=BAB13439.1; Type=Erroneous termination; Positions=765; Note=Translated as Glu; lysosome lysosomal membrane amino acid transport negative regulation of phosphatase activity membrane integral component of membrane transmembrane transporter activity transmembrane transport uc003fgz.1 uc003fgz.2 uc003fgz.3 uc003fgz.4 
ENST00000231721.7 SEMA3G ENST00000231721.7 Homo sapiens semaphorin 3G (SEMA3G), mRNA. (from RefSeq NM_020163) ENST00000231721.1 ENST00000231721.2 ENST00000231721.3 ENST00000231721.4 ENST00000231721.5 ENST00000231721.6 NM_020163 Q7L9D9 Q9H7Q3 Q9NS98 SEM3G_HUMAN uc003dea.1 uc003dea.2 uc003dea.3 The transcription of this gene is activated by PPAR-gamma, and the resulting protein product plays a role in endothelial cell migration. Expression of this gene also inhibits tumor cell migration and invasion. [provided by RefSeq, Jul 2016]. ##Evidence-Data-START## Transcript exon combination :: AB029496.1, SRR1803615.101779.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231721.7/ ENSP00000231721.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Has chemorepulsive activities for sympathetic axons. Ligand of NRP2 (By similarity). Secreted (By similarity). Belongs to the semaphorin family. Contains 1 Ig-like C2-type (immunoglobulin-like) domain. Contains 1 Sema domain. neural crest cell migration receptor binding extracellular region extracellular space integral component of plasma membrane semaphorin receptor binding positive regulation of cell migration negative regulation of axon extension chemorepellent activity negative regulation of axon extension involved in axon guidance negative chemotaxis extracellular exosome semaphorin-plexin signaling pathway uc003dea.1 uc003dea.2 uc003dea.3 
ENST00000231749.8 ZMYND10 ENST00000231749.8 Homo sapiens zinc finger MYND-type containing 10 (ZMYND10), transcript variant 1, mRNA. (from RefSeq NM_015896) A6NK41 BLU ENST00000231749.1 ENST00000231749.2 ENST00000231749.3 ENST00000231749.4 ENST00000231749.5 ENST00000231749.6 ENST00000231749.7 LUCA12.4 NM_015896 O14570 O75800 O75801 Q8N4R6 Q8NDN6 ZMY10_HUMAN uc003dag.1 uc003dag.2 uc003dag.3 This gene encodes a protein containing a MYND-type zinc finger domain that likely functions in assembly of the dynein motor. Mutations in this gene can cause primary ciliary dyskinesia. This gene is also considered a tumor suppressor gene and is often mutated, deleted, or hypermethylated and silenced in cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]. Q9Y3Q8:TSC22D4; NbExp=2; IntAct=EBI-747061, EBI-739485; Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Lung; IsoId=O75800-1; Sequence=Displayed; Name=2; Synonyms=Testis; IsoId=O75800-2; Sequence=VSP_003328; Contains 1 MYND-type zinc finger. Sequence=AAB67311.1; Type=Erroneous gene model prediction; protein binding cytoplasm microtubule organizing center cytoskeleton plasma membrane membrane apical plasma membrane centriolar satellite outer dynein arm assembly inner dynein arm assembly motile cilium assembly metal ion binding positive regulation of motile cilium assembly uc003dag.1 uc003dag.2 uc003dag.3 
ENST00000231751.9 LTF ENST00000231751.9 Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA. (from RefSeq NM_002343) ENST00000231751.1 ENST00000231751.2 ENST00000231751.3 ENST00000231751.4 ENST00000231751.5 ENST00000231751.6 ENST00000231751.7 ENST00000231751.8 NM_002343 V9HWI4 uc003cpq.1 uc003cpq.2 uc003cpq.3 uc003cpq.4 uc003cpq.5 uc003cpq.6 This gene is a member of the transferrin family of genes and its protein product is found in the secondary granules of neutrophils. The protein is a major iron-binding protein in milk and body secretions with an antimicrobial activity, making it an important component of the non-specific immune system. The protein demonstrates a broad spectrum of properties, including regulation of iron homeostasis, host defense against a broad range of microbial infections, anti-inflammatory activity, regulation of cellular growth and differentiation and protection against cancer development and metastasis. Antimicrobial, antiviral, antifungal and antiparasitic activity has been found for this protein and its peptides. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]. uc003cpq.1 uc003cpq.2 uc003cpq.3 uc003cpq.4 uc003cpq.5 uc003cpq.6 
ENST00000231790.8 MLH1 ENST00000231790.8 Homo sapiens mutL homolog 1 (MLH1), transcript variant 22, mRNA. (from RefSeq NM_001354629) COCA2 ENST00000231790.1 ENST00000231790.2 ENST00000231790.3 ENST00000231790.4 ENST00000231790.5 ENST00000231790.6 ENST00000231790.7 MLH1_HUMAN NM_001354629 P40692 uc003cgl.1 uc003cgl.2 uc003cgl.3 uc003cgl.4 uc003cgl.5 The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). [provided by RefSeq, Aug 2017]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.84441.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142348, SAMEA2142680 [ECO:0000348] ##Evidence-Data-END## Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH6) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS- heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages. Heterodimerizes with MLH3 to form MutL gamma which plays a role in meiosis. Heterodimer of MLH1 and PMS2 (MutL alpha), MLH1 and PMS1 (MutL beta) or MLH1 and MLH3 (MutL gamma). Forms a ternary complex with MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3). Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50- MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with MBD4. Interacts with EXO1 and MTMR15/FAN1. P63261:ACTG1; NbExp=7; IntAct=EBI-744248, EBI-351292; P07355:ANXA2; NbExp=7; IntAct=EBI-744248, EBI-352622; P07858:CTSB; NbExp=7; IntAct=EBI-744248, EBI-715062; P17661:DES; NbExp=7; IntAct=EBI-744248, EBI-1055572; Q16658:FSCN1; NbExp=7; IntAct=EBI-744248, EBI-351076; Q969T7:NT5C3L; NbExp=3; IntAct=EBI-744248, EBI-2932564; P54278:PMS2; NbExp=3; IntAct=EBI-744248, EBI-1162561; Q13813:SPTAN1; NbExp=7; IntAct=EBI-744248, EBI-351450; P62328:TMSB4X; NbExp=16; IntAct=EBI-744248, EBI-712598; O75152:ZC3H11A; NbExp=3; IntAct=EBI-744248, EBI-748480; Nucleus. Colon, lymphocytes, breast, lung, spleen, testis, prostate, thyroid, gall bladder and heart. Defects in MLH1 are the cause of hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]. Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype (also called Lynch syndrome). Most families with clinically recognized HNPCC have mutations in either MLH1 or MSH2 genes. HNPCC is an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and extra-colonic cancers of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world, and accounts for 15% of all colon cancers. Cancers in HNPCC originate within benign neoplastic polyps termed adenomas. Clinically, HNPCC is often divided into two subgroups. Type I: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II: patients have an increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. Defects in MLH1 are a cause of mismatch repair cancer syndrome (MMRCS) [MIM:276300]; also known as Turcot syndrome or brain tumor-polyposis syndrome 1 (BTPS1). MMRCS is an autosomal dominant disorder characterized by malignant tumors of the brain associated with multiple colorectal adenomas. Skin features include sebaceous cysts, hyperpigmented and cafe au lait spots. Defects in MLH1 are a cause of Muir-Torre syndrome (MRTES) [MIM:158320]. Rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy. Note=Defects in MLH1 may contribute to lobular carcinoma in situ (LCIS), a non-invasive neoplastic disease of the breast. Defects in MLH1 are a cause of susceptibility to endometrial cancer (ENDMC) [MIM:608089]. Note=Some epigenetic changes can be transmitted unchanged through the germline (termed 'epigenetic inheritance'). Evidence that this mechanism occurs in humans is provided by the identification of individuals in whom 1 allele of the MLH1 gene is epigenetically silenced throughout the soma (implying a germline event). These individuals are affected by HNPCC but does not have identifiable mutations in MLH1, even though it is silenced, which demonstrates that an epimutation can phenocopy a genetic disease. Belongs to the DNA mismatch repair MutL/HexB family. Name=Hereditary non-polyposis colorectal cancer db; URL="http://www.nfdht.nl/"; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MLH1ID149ch3p21.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MLH1"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mlh1/"; nucleotide binding nuclear-transcribed mRNA poly(A) tail shortening resolution of meiotic recombination intermediates condensed chromosome condensed nuclear chromosome synaptonemal complex male germ cell nucleus somatic recombination of immunoglobulin genes involved in immune response chromatin binding protein binding ATP binding nucleus nucleoplasm chromosome chiasma late recombination nodule DNA repair mismatch repair double-strand break repair via nonhomologous end joining cellular response to DNA damage stimulus cell cycle male meiosis chromosome segregation synapsis reciprocal meiotic recombination male meiosis spermatogenesis intrinsic apoptotic signaling pathway in response to DNA damage response to bacterium membrane female meiosis chromosome segregation somatic hypermutation of immunoglobulin genes somatic recombination of immunoglobulin gene segments ATPase activity enzyme binding mismatched DNA binding guanine/thymine mispair binding mismatch repair complex MutLalpha complex meiotic metaphase I plate congression meiotic chromosome segregation meiotic telomere clustering homologous chromosome segregation isotype switching negative regulation of mitotic recombination positive regulation of isotype switching to IgA isotypes positive regulation of isotype switching to IgG isotypes oogenesis meiotic spindle midzone assembly meiotic cell cycle single-stranded DNA binding MutSalpha complex binding uc003cgl.1 uc003cgl.2 uc003cgl.3 uc003cgl.4 uc003cgl.5 
ENST00000231887.8 EHHADH ENST00000231887.8 Homo sapiens enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA. (from RefSeq NM_001966) A8K6Y3 B4DWG3 D3DNU0 ECHD ECHP_HUMAN ENST00000231887.1 ENST00000231887.2 ENST00000231887.3 ENST00000231887.4 ENST00000231887.5 ENST00000231887.6 ENST00000231887.7 NM_001966 Q08426 Q58EZ5 uc003fpf.1 uc003fpf.2 uc003fpf.3 uc003fpf.4 The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. (3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl- CoA + H(2)O. (3Z)-dodec-3-enoyl-CoA = (2E)-dodec-2-enoyl- CoA. (S)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH. Enzyme activity enhanced by acetylation. Lipid metabolism; fatty acid beta-oxidation. Monomer. Peroxisome. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q08426-1; Sequence=Displayed; Name=2; IsoId=Q08426-2; Sequence=VSP_042811; Liver and kidney. Lower amounts seen in the brain. Acetylated, leading to enhanced enzyme activity. Acetylation is enhanced by up to 80% after treatment either with trichostin A (TSA) or with nicotinamide (NAM) with highest increase on Lys-346. Acetylation and enzyme activity increased by about 1.5% on addition of fatty acids. Absent in patients suffering with peroxisomal disorders such as Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease. In the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase family. In the C-terminal section; belongs to the 3- hydroxyacyl-CoA dehydrogenase family. catalytic activity 3-hydroxyacyl-CoA dehydrogenase activity dodecenoyl-CoA delta-isomerase activity enoyl-CoA hydratase activity protein binding peroxisome peroxisomal matrix cytosol internal protein amino acid acetylation protein targeting to peroxisome lipid metabolic process fatty acid metabolic process fatty acid beta-oxidation metabolic process oxidoreductase activity long-chain-enoyl-CoA hydratase activity lyase activity isomerase activity enzyme binding fatty acid beta-oxidation using acyl-CoA oxidase oxidation-reduction process uc003fpf.1 uc003fpf.2 uc003fpf.3 uc003fpf.4 
ENST00000231948.9 CRBN ENST00000231948.9 Homo sapiens cereblon (CRBN), transcript variant 1, mRNA. (from RefSeq NM_016302) AD-006 B2R6H4 C9IZA9 C9JAH6 CRBN_HUMAN ENST00000231948.1 ENST00000231948.2 ENST00000231948.3 ENST00000231948.4 ENST00000231948.5 ENST00000231948.6 ENST00000231948.7 ENST00000231948.8 NM_016302 Q6AI62 Q6NVZ0 Q96SW2 Q9UHW4 uc003bpq.1 uc003bpq.2 uc003bpq.3 uc003bpq.4 uc003bpq.5 This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]. Component of some DCX (DDB1-CUL4-X-box) E3 protein ligase complex, a complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins and is required for limb outgrowth and expression of the fibroblast growth factor FGF8. In the complex, may act as a substrate receptor. Regulates the assembly and neuronal surface expression of large-conductance calcium-activated potassium channels in brain regions involved in memory and learning via its interaction with KCNT1. Protein modification; protein ubiquitination. Interacts with KCNT1 (By similarity). Component of a DCX (DDB1-CUL4-X-box) protein ligase complex, at least composed of CRBN, CUL4A, DDB1 and RBX1. Cytoplasm. Nucleus. Membrane; Peripheral membrane protein (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96SW2-1; Sequence=Displayed; Name=2; IsoId=Q96SW2-2; Sequence=VSP_015209; Note=No experimental confirmation available; Widely expressed. Highly expressed in brain. Ubiquitinated, ubiquitination is mediated by its own DCX protein ligase complex. Defects in CRBN are the cause of mental retardation autosomal recessive type 2A (MRT2A) [MIM:607417]. MRT2A patients display mild mental retardation with a standard IQ ranged from 50 to 70. IQ scores are lower in males than females. Developmental milestones are mildly delayed. There are no dysmorphic or autistic features. Non-syndromic mental retardation patients do not manifest other clinical signs. Specifically binds thalidomide, a drug widely prescribed to pregnant women in the late 1950s. Thalidomide was sold as a sedative but was found to be teratogenic, causing multiple birth defects. Recently, thalidomide use has increased for the treatment of multiple myeloma and erythema nodosum leprosum, a painful complication of leprosy. Thalidomide teratogenic activity may be a consequence of CRBN-binding, which inhibits the ubiquitin ligase activity of the DCX (DDB1-CUL4-X- box) protein ligase complex, possibly leading to abnormal regulation of the BMP and FGF8 signaling pathways (PubMed:20223979). Belongs to the CRBN family. Contains 1 Lon domain. Although it contains a Lon domain also found in proteases of the peptidase S16 family, it does not contain the ATP-binding and catalytic domains, suggesting that it has no protease activity. Sequence=AAF17211.1; Type=Frameshift; Positions=347, 397, 401; Sequence=BAG35471.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAG35471.1; Type=Frameshift; Positions=347; Name=Protein Spotlight; Note=A short story - Issue 117 of May 2010; URL="http://web.expasy.org/spotlight/back_issues/sptlt117.shtml"; protein binding nucleus nucleolus cytoplasm membrane protein ubiquitination Cul4A-RING E3 ubiquitin ligase complex negative regulation of protein homooligomerization negative regulation of ion transmembrane transport proteasome-mediated ubiquitin-dependent protein catabolic process metal ion binding positive regulation of protein homodimerization activity uc003bpq.1 uc003bpq.2 uc003bpq.3 uc003bpq.4 uc003bpq.5 
ENST00000232003.5 HRG ENST00000232003.5 Homo sapiens histidine rich glycoprotein (HRG), mRNA. (from RefSeq NM_000412) B9EK35 D3DNU7 ENST00000232003.1 ENST00000232003.2 ENST00000232003.3 ENST00000232003.4 HRG_HUMAN NM_000412 P04196 uc003fqq.1 uc003fqq.2 uc003fqq.3 uc003fqq.4 uc003fqq.5 uc003fqq.6 This histidine-rich glycoprotein contains two cystatin-like domains and is located in plasma and platelets. The physiological function has not been determined but it is known that the protein binds heme, dyes and divalent metal ions. The encoded protein also has a peptide that displays antimicrobial activity against C. albicans, E. coli, S. aureus, P. aeruginosa, and E. faecalis. It can inhibit rosette formation and interacts with heparin, thrombospondin and plasminogen. Two of the protein's effects, the inhibition of fibrinolysis and the reduction of inhibition of coagulation, indicate a potential prothrombotic effect. Mutations in this gene lead to thrombophilia due to abnormal histidine-rich glycoprotein levels. [provided by RefSeq, Nov 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M13149.1, BC150591.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000232003.5/ ENSP00000232003.4 Protein has antimicrobial activity :: PMID: 17229145, 18797515 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Plasma glycoprotein that binds a number of ligands such as heme, heparin, heparan sulfate, thrombospondin, plasminogen, and divalent metal ions. Binds heparin and heparin/glycosaminoglycans in a zinc-dependent manner. Binds heparan sulfate on the surface of liver, lung, kidney and heart endothelial cells. Binds to N-sulfated polysaccharide chains on the surface of liver endothelial cells. Inhibits rosette formation. Acts as an adapter protein and is implicated in regulating many processes such as immune complex and pathogen clearance, cell chemotaxis, cell adhesion, angiogenesis, coagulation and fibrinolysis. Mediates clearance of necrotic cells through enhancing the phagocytosis of necrotic cells in an heparan sulfate-dependent pathway. This process can be regulated by the presence of certain HRG ligands such as heparin and zinc ions. Binds to IgG subclasses of immunoglobins containing kappa and lambda light chains with different affinities regulating their clearance and inhibiting the formation of insoluble immune complexes. Tethers plasminogen to the cell surface. Binds T-cells and alters the cell morphology. Modulates angiogenesis by blocking the CD6-mediated antiangiongenic effect of thrombospondins, THBS1 and THBS2. Acts as a regulator of the vascular endothelial growth factor (VEGF) signaling pathway; inhibits endothelial cell motility by reducing VEGF-induced complex formation between PXN/paxillin and ILK/integrin-linked protein kinase and by promoting inhibition of VEGF-induced tyrosine phosphorylation of focal adhesion kinases and alpha-actinins in endothelial cells. Also plays a role in the regulation of tumor angiogenesis and tumor immune surveillance. Normalizes tumor vessels and promotes antitumor immunity by polarizing tumor-associated macrophages, leading to decreased tumor growth and metastasis. Zinc. Interacts (via the HRR domain) with TPM1; the interaction appears to contribute to the antiangiogenic properties of the HRR domain. Interacts with THBS2; the interaction blocks the antiangiogenic effect of THBS2 with CD36 (By similarity). Interacts with THBS1 (via the TSP type I repeats); the interaction blocks the antiangiogenic effect of THBS1 with CD3. Interacts with PLG (via its Kringle domains); the interaction tethers PLG to the cell surface and enhances its activation. Interacts with HPSE; the interaction is enhanced at acidic pH, partially inhibits binding of HPSE to cell surface receptors and modulates its enzymatic activity. Interacts (via the HRR domain) with TMP1; the interaction partially mediates the antiangiogenic properties of HRG. Interacts with kappa and lambda light chains of IgG molecules. Interacts with ATP5A1; the interaction occurs on the surface of T-cells and alters their cell morphology in concert with CONA. Binds IgG molecules containing kappa and lambda light chains and inhibits the formation of insoluble immunoglobulin complexes. Interacts with F12; the interaction, which is enhanced in the presence of zinc ions and inhibited by heparin-binding to HRG, inhibits factor XII autoactivation and contact-initiated coagulation. Q96PM5:RCHY1; NbExp=3; IntAct=EBI-3915012, EBI-947779; Secreted. Expressed in macrophages and in malignant cells. Expressed by the liver and secreted in plasma (at protein level). The His/Pro-rich (HRR) region contains approximately 12 tandem internal repeats of the 5-residue G[H/P][H/P]PH consensus sequence. HRR binds heparan sulfate and possesses antiangiogenic, antibacterial and antifungal properties through binding Candida cells, and preferentially lysing the ergosterol-containing liposomes at low pH. The tandem repeats also bind divalent metal ions and heme. The cystatin domains can also bind heparan sulfate. Binding is enhanced in the presence of zinc ions. Proteolytic cleavage produces several HRG fragments which are mostly disulfide-linked and, therefore, not released. Cleavage by plasmin is inhibited in the presence of heparin, zinc ions or in an acidic environment. Cleavage reduces binding of HRG to heparan sulfate, but enhances the ability of HRG to bind and tether plasminogen to the cell surface. On platelet activation, releases a 33 kDa antiangiogenic peptide which encompasses the HRR. Also cleaved in the C-terminal by plasmin. N-glycosylated. Defects in HRG are the cause of thrombophilia due to histidine-rich glycoprotein deficiency (THPH11) [MIM:613116]. A hemostatic disorder characterized by a tendency to thrombosis. Contains 2 cystatin domains. angiogenesis platelet degranulation positive regulation of immune response to tumor cell serine-type endopeptidase inhibitor activity cysteine-type endopeptidase inhibitor activity receptor binding protein binding extracellular region plasma membrane chemotaxis negative regulation of cell adhesion blood coagulation hemostasis heparin binding zinc ion binding negative regulation of cell proliferation cell surface regulation of gene expression regulation of platelet activation negative regulation of lamellipodium assembly negative regulation of endopeptidase activity heme transport negative regulation of angiogenesis immunoglobulin binding heme binding platelet activation regulation of blood coagulation negative regulation of cell growth platelet alpha granule lumen regulation of actin cytoskeleton organization negative regulation of cell adhesion mediated by integrin endolysosome fibrinolysis positive regulation of apoptotic process regulation of protein complex assembly heparan sulfate proteoglycan binding negative regulation of blood vessel endothelial cell migration metal ion binding regulation of peptidyl-tyrosine phosphorylation defense response to fungus cytolysis in other organism positive regulation of focal adhesion assembly negative regulation of fibrinolysis extracellular exosome blood microparticle negative regulation of vascular endothelial growth factor signaling pathway positive regulation of blood vessel remodeling negative regulation of endothelial cell chemotaxis uc003fqq.1 uc003fqq.2 uc003fqq.3 uc003fqq.4 uc003fqq.5 uc003fqq.6 
ENST00000232217.6 RBP2 ENST00000232217.6 Homo sapiens retinol binding protein 2 (RBP2), mRNA. (from RefSeq NM_004164) A8K7G3 CRBP2 ENST00000232217.1 ENST00000232217.2 ENST00000232217.3 ENST00000232217.4 ENST00000232217.5 NM_004164 P50120 Q6ISQ9 Q6ISS7 RET2_HUMAN uc003eth.1 uc003eth.2 uc003eth.3 uc003eth.4 This gene encodes an abundant protein present in the small intestinal epithelium. It is thought to participate in the uptake and/or intracellular metabolism of vitamin A. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. This protein may also modulate the supply of retinoic acid to the nuclei of endometrial cells during the menstrual cycle. [provided by RefSeq, Aug 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AW772327.1, AK291978.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000232217.6/ ENSP00000232217.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Intracellular transport of retinol. Cytoplasm. Higher expression in adult small intestine and to a much lesser extent in fetal kidney. Forms a beta-barrel structure that accommodates hydrophobic ligands in its interior. Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. retinoid metabolic process retinoid binding cytoplasm cytosol vitamin A metabolic process lipid binding epidermis development retinal binding retinol binding uc003eth.1 uc003eth.2 uc003eth.3 uc003eth.4 
ENST00000232375.8 PFKFB4 ENST00000232375.8 Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), transcript variant 2, mRNA. (from RefSeq NM_004567) ENST00000232375.1 ENST00000232375.2 ENST00000232375.3 ENST00000232375.4 ENST00000232375.5 ENST00000232375.6 ENST00000232375.7 F264_HUMAN NM_004567 Q16877 Q5S3G5 uc003ctv.1 uc003ctv.2 uc003ctv.3 uc003ctv.4 uc003ctv.5 The protein encoded by this gene is one of four bifunctional kinase/phosphatases that regulate the concentration of the glycolytic byproduct fructose-2,6-bisphosphate (F2,6BP). The encoded protein is highly expressed in cancer cells and is induced by hypoxia. This protein is essential to the survival of cancer cells under conditions of hypoxia, because it increases the amount of F2,6BP and ATP at a time when the cell cannot produce much of them. This finding suggests that this protein may be a good target for disruption in cancer cells, hopefully imperiling their survival. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]. Synthesis and degradation of fructose 2,6-bisphosphate. Beta-D-fructose 2,6-bisphosphate + H(2)O = D- fructose 6-phosphate + phosphate. ATP + D-fructose 6-phosphate = ADP + beta-D- fructose 2,6-bisphosphate. The most important regulatory mechanism of these opposing activities is by phosphorylation and dephosphorylation of the enzyme (By similarity). Homodimer (By similarity). In the C-terminal section; belongs to the phosphoglycerate mutase family. nucleotide binding catalytic activity 6-phosphofructo-2-kinase activity fructose-2,6-bisphosphate 2-phosphatase activity ATP binding cytosol fructose metabolic process fructose 2,6-bisphosphate metabolic process metabolic process kinase activity phosphorylation dephosphorylation transferase activity hydrolase activity positive regulation of glycolytic process carbohydrate phosphorylation uc003ctv.1 uc003ctv.2 uc003ctv.3 uc003ctv.4 uc003ctv.5 
ENST00000232424.4 HES1 ENST00000232424.4 Homo sapiens hes family bHLH transcription factor 1 (HES1), mRNA. (from RefSeq NM_005524) BHLHB39 ENST00000232424.1 ENST00000232424.2 ENST00000232424.3 HES1_HUMAN HL HRY NM_005524 Q14469 Q6FHB2 uc003ftq.1 uc003ftq.2 uc003ftq.3 uc003ftq.4 This protein belongs to the basic helix-loop-helix family of transcription factors. It is a transcriptional repressor of genes that require a bHLH protein for their transcription. The protein has a particular type of basic domain that contains a helix interrupting protein that binds to the N-box rather than the canonical E-box. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DA569975.1, AK000415.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000232424.4/ ENSP00000232424.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcriptional repressor of genes that require a bHLH protein for their transcription. May act as a negative regulator of myogenesis by inhibiting the functions of MYOD1 and ASH1. Binds DNA on N-box motifs: 5'-CACNAG-3' with high affinity and on E-box motifs: 5'-CANNTG-3' with low affinity (By similarity). May play a role in a functional FA core complex response to DNA cross-link damage, being required for the stability and nuclear localization of FA core complex proteins, as well as for FANCD2 monoubiquitination in response to DNA damage. Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE family. Interacts (via WPRW motif) with TLE1, and more weakly with TLE2. Interacts with HES6 (By similarity). Interacts with SIRT1. Interacts with an FA complex, composed of FANCA, FANCF, FANCG and FANCL, but not of FANCC, nor FANCE. Q96EB6:SIRT1; NbExp=4; IntAct=EBI-2832522, EBI-1802965; Nucleus. Has a particular type of basic domain (presence of a helix-interrupting proline) that binds to the N-box (CACNAG), rather than the canonical E-box (CANNTG). The C-terminal WRPW motif is a transcriptional repression domain necessary for the interaction with Groucho/TLE family members, transcriptional corepressors recruited to specific target DNA by Hairy-related proteins (By similarity). The bHLH, as well as cooperation between the central Orange domain and the C-terminal WRPW motif, is required for transcriptional repressor activity (By similarity). Contains 1 bHLH (basic helix-loop-helix) domain. Contains 1 Orange domain. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding in utero embryonic development liver development embryonic heart tube morphogenesis outflow tract morphogenesis regulation of secondary heart field cardioblast proliferation ventricular septum development DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm cytoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter cell adhesion Notch signaling pathway smoothened signaling pathway pattern specification process nervous system development transcription factor binding positive regulation of cell proliferation anterior/posterior pattern specification cell migration telencephalon development midbrain-hindbrain boundary morphogenesis oculomotor nerve development trochlear nerve development hindbrain morphogenesis forebrain radial glial cell differentiation neural tube development pituitary gland development adenohypophysis development cell differentiation lung development positive regulation of BMP signaling pathway midbrain development pancreas development somatic stem cell population maintenance aorta morphogenesis ascending aorta morphogenesis positive regulation of T cell proliferation positive regulation of tyrosine phosphorylation of STAT protein protein homodimerization activity histone deacetylase binding positive regulation of DNA binding sequence-specific DNA binding cell fate commitment negative regulation of cell differentiation regulation of fat cell differentiation negative regulation of auditory receptor cell differentiation negative regulation of neuron differentiation positive regulation of Notch signaling pathway negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter positive regulation of mitotic cell cycle, embryonic lateral inhibition regulation of JAK-STAT cascade positive regulation of JAK-STAT cascade protein dimerization activity cell maturation regulation of timing of cell differentiation thymus development cell morphogenesis involved in neuron differentiation positive regulation of astrocyte differentiation negative regulation of oligodendrocyte differentiation artery morphogenesis regulation of epithelial cell proliferation regulation of neurogenesis chaperone binding inner ear receptor stereocilium organization regulation of timing of neuron differentiation negative regulation of glial cell proliferation ventricular septum morphogenesis ureteric bud morphogenesis labyrinthine layer blood vessel development common bile duct development negative regulation of stomach neuroendocrine cell differentiation cardiac neural crest cell development involved in outflow tract morphogenesis pharyngeal arch artery morphogenesis macromolecular complex assembly E-box binding N-box binding glomerulus vasculature development comma-shaped body morphogenesis S-shaped body morphogenesis renal interstitial fibroblast development metanephric nephron tubule morphogenesis cochlea development establishment of epithelial cell polarity vascular smooth muscle cell development neuronal stem cell population maintenance negative regulation of pancreatic A cell differentiation negative regulation of stem cell differentiation negative regulation of pro-B cell differentiation negative regulation of forebrain neuron differentiation negative regulation of inner ear receptor cell differentiation uc003ftq.1 uc003ftq.2 uc003ftq.3 uc003ftq.4 
ENST00000232461.8 GNAT1 ENST00000232461.8 Homo sapiens G protein subunit alpha transducin 1 (GNAT1), transcript variant 1, mRNA. (from RefSeq NM_144499) ENST00000232461.1 ENST00000232461.2 ENST00000232461.3 ENST00000232461.4 ENST00000232461.5 ENST00000232461.6 ENST00000232461.7 GNAT1_HUMAN GNATR NM_144499 P11488 Q4VBN2 uc003cym.1 uc003cym.2 uc003cym.3 uc003cym.4 Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]. Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP-phosphodiesterase. G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Interacts (when myristoylated) with UNC119; interaction is required for localization in sensory neurons. Rod. Defects in GNAT1 are the cause of congenital stationary night blindness autosomal dominant type 3 (CSNBAD3) [MIM:610444]; also known as congenital stationary night blindness Nougaret type. Congenital stationary night blindness is a non-progressive retinal disorder characterized by impaired night vision. Belongs to the G-alpha family. G(i/o/t/z) subfamily. Name=Mutations of the GNAT1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/gntmut.htm"; acyl binding nucleotide binding detection of chemical stimulus involved in sensory perception of bitter taste G-protein coupled receptor binding photoreceptor outer segment photoreceptor inner segment GTPase activity GTP binding cytoplasm cytosol heterotrimeric G-protein complex plasma membrane protein folding signal transduction G-protein coupled receptor signaling pathway adenylate cyclase-modulating G-protein coupled receptor signaling pathway visual perception phototransduction phototransduction, visible light cell proliferation response to light stimulus response to light intensity membrane rhodopsin mediated signaling pathway apical plasma membrane guanyl nucleotide binding GDP binding protein kinase binding regulation of rhodopsin mediated signaling pathway G-protein beta/gamma-subunit complex binding photoreceptor connecting cilium eye photoreceptor cell development photoreceptor outer segment membrane cell projection neuronal cell body metal ion binding response to stimulus detection of light stimulus involved in visual perception sensory perception of umami taste positive regulation of cyclic-nucleotide phosphodiesterase activity negative regulation of cyclic-nucleotide phosphodiesterase activity retina development in camera-type eye cellular response to electrical stimulus photoreceptor disc membrane uc003cym.1 uc003cym.2 uc003cym.3 uc003cym.4 
ENST00000232496.5 TUSC2 ENST00000232496.5 Homo sapiens tumor suppressor 2, mitochondrial calcium regulator (TUSC2), mRNA. (from RefSeq NM_007275) B2R4Y9 C3orf11 ENST00000232496.1 ENST00000232496.2 ENST00000232496.3 ENST00000232496.4 FUS1 LGCC NM_007275 O75896 PDAP2 TUSC2_HUMAN uc003czy.1 uc003czy.2 uc003czy.3 This gene is a highly conserved lung cancer candidate gene. No other information about this gene is currently available. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.125991.1, AF055479.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2150385, SAMEA2467148 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: inferred from homology RefSeq Select criteria :: based on single protein-coding transcript regulatory uORF :: PMID: 21645495 ##RefSeq-Attributes-END## May function as a tumor suppressor, inhibiting colony formation, causing G1 arrest and ultimately inducing apoptosis in homozygous 3p21.3 120-kb region-deficient cells. P00521:ABL (xeno); NbExp=1; IntAct=EBI-1052725, EBI-1550592; Q6P2I7:GK006; NbExp=1; IntAct=EBI-1052725, EBI-1047027; O95757:HSPA4L; NbExp=1; IntAct=EBI-1052725, EBI-358652; P50851:LRBA; NbExp=1; IntAct=EBI-1052725, EBI-1052167; Q562F6:SGOL2; NbExp=1; IntAct=EBI-1052725, EBI-989213; Strong expression in heart, lung, skeletal muscle, kidney, and pancreas, followed by brain and liver, lowest levels in placenta. Myristoylation is required for tumor suppressor activity. Belongs to the TUSC2 family. natural killer cell differentiation protein binding mitochondrion phagocytosis inflammatory response cell cycle interleukin-15 production negative regulation of interleukin-17 production positive regulation of interleukin-10 production cell maturation defense response to Gram-negative bacterium regulation of mitochondrial membrane potential response to defense-related host reactive oxygen species production neutrophil mediated killing of gram-negative bacterium chemokine (C-C motif) ligand 5 production regulation of reactive oxygen species metabolic process uc003czy.1 uc003czy.2 uc003czy.3 
ENST00000232501.8 NPRL2 ENST00000232501.8 Homo sapiens NPR2 like, GATOR1 complex subunit (NPRL2), mRNA. (from RefSeq NM_006545) A8K831 ENST00000232501.1 ENST00000232501.2 ENST00000232501.3 ENST00000232501.4 ENST00000232501.5 ENST00000232501.6 ENST00000232501.7 NM_006545 NPRL2_HUMAN Q6FGS2 Q8WTW4 Q9Y249 Q9Y497 TUSC4 uc003daj.1 uc003daj.2 uc003daj.3 Suppresses Src-dependent tyrosine phosphorylation and activation of PDPK1 and its downstream signaling. Down-regulates PDPK1 kinase activity by interfering with tyrosine phosphorylation at the Tyr-9 Tyr-373 and Tyr-376 residues. May act as a tumor suppressor. Suppresses cell growth and enhanced sensitivity to various anticancer drugs. Forms a heterodimer with NPRL3. Interacts with PDPK1. Q12980:NPRL3; NbExp=1; IntAct=EBI-1043552, EBI-2650314; P10644:PRKAR1A; NbExp=1; IntAct=EBI-1043552, EBI-476431; P61081:UBE2M; NbExp=1; IntAct=EBI-1043552, EBI-1041660; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8WTW4-1; Sequence=Displayed; Name=2; IsoId=Q8WTW4-2; Sequence=VSP_010329, VSP_010330, VSP_010331; Note=No experimental confirmation available; Most abundant in skeletal muscle, followed by brain, liver and pancreas, with lower amounts in lung, kidney, placenta and heart. Expressed in most lung cancer cell lines tested. Belongs to the NPR2 family. protein kinase activity GTPase activator activity protein binding lysosome lysosomal membrane protein phosphorylation cellular response to nitrogen starvation positive regulation of autophagy membrane negative regulation of TOR signaling negative regulation of kinase activity cellular response to amino acid starvation positive regulation of GTPase activity Iml1 complex regulation of autophagosome assembly uc003daj.1 uc003daj.2 uc003daj.3 
ENST00000232508.9 CYB561D2 ENST00000232508.9 Homo sapiens cytochrome b561 family member D2 (CYB561D2), transcript variant 1, mRNA. (from RefSeq NM_007022) 101F6 A8K552 C56D2_HUMAN ENST00000232508.1 ENST00000232508.2 ENST00000232508.3 ENST00000232508.4 ENST00000232508.5 ENST00000232508.6 ENST00000232508.7 ENST00000232508.8 LUCA12.2 NM_007022 O14569 uc003dal.1 uc003dal.2 uc003dal.3 uc003dal.4 Binds 2 heme groups non-covalently (By similarity). Membrane; Multi-pass membrane protein (Probable). Contains 1 cytochrome b561 domain. ferroxidase activity endoplasmic reticulum endoplasmic reticulum membrane membrane integral component of membrane heme binding cytoplasmic vesicle membrane cytoplasmic vesicle vesicle metal ion binding oxidation-reduction process uc003dal.1 uc003dal.2 uc003dal.3 uc003dal.4 
ENST00000232564.8 GNB4 ENST00000232564.8 Homo sapiens G protein subunit beta 4 (GNB4), mRNA. (from RefSeq NM_021629) B3KMH5 D3DNR8 ENST00000232564.1 ENST00000232564.2 ENST00000232564.3 ENST00000232564.4 ENST00000232564.5 ENST00000232564.6 ENST00000232564.7 GBB4_HUMAN NM_021629 Q9HAV0 uc003fjv.1 uc003fjv.2 uc003fjv.3 uc003fjv.4 uc003fjv.5 uc003fjv.6 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.177602.1, SRR1803614.226704.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000232564.8/ ENSP00000232564.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction. G proteins are composed of 3 units, alpha, beta and gamma. Strongly expressed in lung and placenta, whereas it is weakly expressed in brain and heart. Belongs to the WD repeat G protein beta family. Contains 7 WD repeats. lysosomal membrane cytosol protein folding signal transduction substantia nigra development macromolecular complex binding extracellular exosome uc003fjv.1 uc003fjv.2 uc003fjv.3 uc003fjv.4 uc003fjv.5 uc003fjv.6 
ENST00000232603.10 MORC1 ENST00000232603.10 Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. (from RefSeq NM_014429) ENST00000232603.1 ENST00000232603.2 ENST00000232603.3 ENST00000232603.4 ENST00000232603.5 ENST00000232603.6 ENST00000232603.7 ENST00000232603.8 ENST00000232603.9 MORC MORC1_HUMAN NM_014429 Q7L8E2 Q86VD1 Q9NSG7 Q9Y6D4 uc003dxl.1 uc003dxl.2 uc003dxl.3 uc003dxl.4 uc003dxl.5 This gene encodes the human homolog of mouse morc and like the mouse protein it is testis-specific. Mouse studies support a testis-specific function since only male knockout mice are infertile; infertility is the only apparent defect. These studies further support a role for this protein early in spermatogenesis, possibly by affecting entry into apoptosis because testis from knockout mice show greatly increased numbers of apoptotic cells. [provided by RefSeq, Jan 2009]. ##Evidence-Data-START## Transcript exon combination :: BC050307.1, AF084946.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1968968 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000232603.10/ ENSP00000232603.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Required for spermatogenesis (By similarity). Nucleus (By similarity). Contains 1 CW-type zinc finger. behavioral fear response male germ cell nucleus nucleus multicellular organism development spermatogenesis zinc ion binding negative regulation of transposition negative regulation of gene expression cell differentiation regulation of gene expression, epigenetic DNA methylation involved in gamete generation DNA hypermethylation metal ion binding negative regulation of DNA-templated transcription, initiation uc003dxl.1 uc003dxl.2 uc003dxl.3 uc003dxl.4 uc003dxl.5 
ENST00000232607.7 UMPS ENST00000232607.7 Homo sapiens uridine monophosphate synthetase (UMPS), transcript variant 2, non-coding RNA. (from RefSeq NR_033434) ENST00000232607.1 ENST00000232607.2 ENST00000232607.3 ENST00000232607.4 ENST00000232607.5 ENST00000232607.6 NR_033434 O00758 O00759 O00760 OK/SW-cl.21 P11172 Q16862 Q9H3Q2 Q9UG49 UMPS_HUMAN uc003ehl.1 uc003ehl.2 uc003ehl.3 uc003ehl.4 uc003ehl.5 uc003ehl.6 This gene encodes a uridine 5'-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5'-monophosphate. The terminal reaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5'-monophosphate to uridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]. Orotidine 5'-phosphate + diphosphate = orotate + 5-phospho-alpha-D-ribose 1-diphosphate. Orotidine 5'-phosphate = UMP + CO(2). Pyrimidine metabolism; UMP biosynthesis via de novo pathway; UMP from orotate: step 1/2. Pyrimidine metabolism; UMP biosynthesis via de novo pathway; UMP from orotate: step 2/2. Homodimer. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P11172-1; Sequence=Displayed; Name=2; IsoId=P11172-2; Sequence=VSP_009273; Note=No experimental confirmation available; Defects in UMPS are the cause of orotic aciduria type 1 (ORAC1) [MIM:258900]. A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. A minority of cases have additional features, particularly congenital malformations and immune deficiencies. In the N-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family. In the C-terminal section; belongs to the OMP decarboxylase family. Sequence=CAB45710.3; Type=Erroneous termination; Positions=430; Note=Translated as Gln; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UMPS"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/umps/"; catalytic activity orotate phosphoribosyltransferase activity orotidine-5'-phosphate decarboxylase activity nucleus cytoplasm cytosol 'de novo' pyrimidine nucleobase biosynthetic process pyrimidine nucleotide biosynthetic process UMP biosynthetic process female pregnancy lactation metabolic process nucleoside metabolic process transferase activity transferase activity, transferring glycosyl groups lyase activity carboxy-lyase activity pyrimidine nucleobase biosynthetic process cellular response to drug identical protein binding 'de novo' UMP biosynthetic process pyrimidine nucleoside biosynthetic process uc003ehl.1 uc003ehl.2 uc003ehl.3 uc003ehl.4 uc003ehl.5 uc003ehl.6 
ENST00000232744.13 ABTB1 ENST00000232744.13 Homo sapiens ankyrin repeat and BTB domain containing 1 (ABTB1), transcript variant 2, mRNA. (from RefSeq NM_172027) ABTB1_HUMAN BPOZ D3DNB0 ENST00000232744.1 ENST00000232744.10 ENST00000232744.11 ENST00000232744.12 ENST00000232744.2 ENST00000232744.3 ENST00000232744.4 ENST00000232744.5 ENST00000232744.6 ENST00000232744.7 ENST00000232744.8 ENST00000232744.9 NM_172027 PP2259 Q6ZNU9 Q71MF1 Q969K4 Q96S62 Q96S63 uc003ejt.1 uc003ejt.2 uc003ejt.3 uc003ejt.4 uc003ejt.5 This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010]. May act as a mediator of the PTEN growth-suppressive signaling pathway. May play a role in developmental processes. Cytoplasm. Event=Alternative splicing; Named isoforms=4; Name=2; Synonyms=BPOZ-2; IsoId=Q969K4-1; Sequence=Displayed; Name=1; Synonyms=BPOZ-1; IsoId=Q969K4-2; Sequence=VSP_052148; Name=3; Synonyms=BPOZ-3; IsoId=Q969K4-3; Sequence=VSP_052149; Name=4; IsoId=Q969K4-4; Sequence=VSP_052150, VSP_052151, VSP_052152, VSP_052153; Note=No experimental confirmation available; Ubiquitously expressed in all fetal tissues examined including heart, brain, liver, and kidney. Also expressed at lower levels in both adult heart and hypertrophic heart. Contains 2 ANK repeats. Contains 2 BTB (POZ) domains. Sequence=AAQ04661.1; Type=Frameshift; Positions=202, 212; ubiquitin ligase complex translation elongation factor activity protein binding nucleolus cytoplasm cytosol plasma membrane translation translational elongation uc003ejt.1 uc003ejt.2 uc003ejt.3 uc003ejt.4 uc003ejt.5 
ENST00000232766.6 KLHL18 ENST00000232766.6 Homo sapiens kelch like family member 18 (KLHL18), mRNA. (from RefSeq NM_025010) A8K612 ENST00000232766.1 ENST00000232766.2 ENST00000232766.3 ENST00000232766.4 ENST00000232766.5 KIAA0795 KLH18_HUMAN NM_025010 O94889 OK/SW-cl.74 Q7Z3E8 Q8N125 uc003crd.1 uc003crd.2 uc003crd.3 uc003crd.4 uc003crd.5 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O94889-1; Sequence=Displayed; Name=2; IsoId=O94889-2; Sequence=VSP_035974; Contains 1 BACK (BTB/Kelch associated) domain. Contains 1 BTB (POZ) domain. Contains 6 Kelch repeats. Sequence=AAH32620.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAD97920.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; protein binding protein ubiquitination positive regulation of mitotic cell cycle phase transition uc003crd.1 uc003crd.2 uc003crd.3 uc003crd.4 uc003crd.5 
ENST00000232888.7 RRP9 ENST00000232888.7 Homo sapiens ribosomal RNA processing 9, U3 small nucleolar RNA binding protein (RRP9), mRNA. (from RefSeq NM_004704) B2R996 ENST00000232888.1 ENST00000232888.2 ENST00000232888.3 ENST00000232888.4 ENST00000232888.5 ENST00000232888.6 NM_004704 O43818 Q8IZ30 RNU3IP2 U355K U3IP2_HUMAN uc003dbw.1 uc003dbw.2 uc003dbw.3 uc003dbw.4 This gene encodes a member of the WD-repeat protein family. The encoded protein is a component of the nucleolar small nuclear ribonucleoprotein particle (snoRNP) and is essential for 18s rRNA processing during ribosome synthesis. It contains seven WD domains required for nucleolar localization and specific interaction with the U3 small nucleolar RNA (U3 snoRNA). [provided by RefSeq, Oct 2012]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.439055.1, BC009879.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000232888.7/ ENSP00000232888.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Component of a nucleolar small nuclear ribonucleoprotein particle (snoRNP) thought to participate in the processing and modification of pre-ribosomal RNA. Interacts specifically with the U3 small nucleolar RNA (U3 snoRNA). Binds a sub-fragment of the U3 snoRNA surrounding the B/C motif (3UBC). This association with the U3BC RNA is dependent on the binding of a protein called 15.5K to the box B/C motif. The association of the protein with the U3BC RNA was found to be also dependent on a conserved RNA structure that flanks the box B/C motif. Nucleus, nucleolus. The WD domains are required for nucleolar localization and U3 small nucleolar RNAs binding. Belongs to the WD repeat RRP9 family. Contains 7 WD repeats. RNA binding nucleus nucleoplasm nucleolus rRNA processing box C/D snoRNP complex small-subunit processome U3 snoRNA binding uc003dbw.1 uc003dbw.2 uc003dbw.3 uc003dbw.4 
ENST00000232892.12 AADAC ENST00000232892.12 Homo sapiens arylacetamide deacetylase (AADAC), mRNA. (from RefSeq NM_001086) A8K3L3 AAAD_HUMAN D3DNJ6 DAC ENST00000232892.1 ENST00000232892.10 ENST00000232892.11 ENST00000232892.2 ENST00000232892.3 ENST00000232892.4 ENST00000232892.5 ENST00000232892.6 ENST00000232892.7 ENST00000232892.8 ENST00000232892.9 NM_001086 P22760 Q8N1A9 uc003eze.1 uc003eze.2 uc003eze.3 uc003eze.4 uc003eze.5 Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine N-acetyltransferase, which catalyzes one of the initial biotransformation pathways for arylamine and heterocyclic amine carcinogens [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189664.80955.1, SRR5189664.54243.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142363, SAMEA2142586 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000232892.12/ ENSP00000232892.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Arylacetamide deacetylation is an important enzyme activity in the metabolic activation of arylamine substrates to ultimate carcinogens. Displays major serine hydrolase activity in liver microsomes. Hydrolyzes also flutamide, which is an antiandrogen drug used for the treatment of prostate cancer that occasionally causes severe hepatotoxicity. Displays cellular triglyceride lipase activity in liver. Increases intracellular fatty acids derived from hydrolysis of newly formed triglyceride stores. Triacylglycerol + H(2)O = diacylglycerol + a carboxylate. Kinetic parameters: KM=0.8 mM for flutamide; Vmax=1.1 nmol/min/mg enzyme toward flutamide; Endoplasmic reticulum membrane; Single-pass type II membrane protein. Microsome membrane; Single-pass type II membrane protein. Mainly expressed in liver, small intestine, colon and adrenal gland. Belongs to the 'GDXG' lipolytic enzyme family. Sequence=AAA35551.1; Type=Frameshift; Positions=53, 56; catalytic activity triglyceride lipase activity endoplasmic reticulum endoplasmic reticulum membrane xenobiotic metabolic process catabolic process positive regulation of triglyceride catabolic process membrane integral component of membrane lipase activity hydrolase activity serine hydrolase activity deacetylase activity organelle membrane short-chain carboxylesterase activity intracellular membrane-bounded organelle carboxylic ester hydrolase activity uc003eze.1 uc003eze.2 uc003eze.3 uc003eze.4 uc003eze.5 
ENST00000232905.4 EIF1B ENST00000232905.4 Homo sapiens eukaryotic translation initiation factor 1B (EIF1B), mRNA. (from RefSeq NM_005875) ENST00000232905.1 ENST00000232905.2 ENST00000232905.3 GC20 NM_005875 Q6FG85 Q6FG85_HUMAN hCG_16417 uc003ckc.1 uc003ckc.2 uc003ckc.3 uc003ckc.4 uc003ckc.5 uc003ckc.6 translation initiation factor activity protein binding translational initiation uc003ckc.1 uc003ckc.2 uc003ckc.3 uc003ckc.4 uc003ckc.5 uc003ckc.6 
ENST00000232975.8 TNNC1 ENST00000232975.8 Homo sapiens troponin C1, slow skeletal and cardiac type (TNNC1), mRNA. (from RefSeq NM_003280) ENST00000232975.1 ENST00000232975.2 ENST00000232975.3 ENST00000232975.4 ENST00000232975.5 ENST00000232975.6 ENST00000232975.7 NM_003280 Q6FH91 Q6FH91_HUMAN hCG_42573 uc003deb.1 uc003deb.2 uc003deb.3 uc003deb.4 uc003deb.5 Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT, which contains the binding site for tropomyosin; and TnC, the protein encoded by this gene. The binding of calcium to TnC abolishes the inhibitory action of TnI, thus allowing the interaction of actin with myosin, the hydrolysis of ATP, and the generation of tension. Mutations in this gene are associated with cardiomyopathy dilated type 1Z. [provided by RefSeq, Oct 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189655.140968.1, SRR5189655.222916.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2147920, SAMEA2151741 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000232975.8/ ENSP00000232975.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## diaphragm contraction calcium ion binding response to metal ion transition between fast and slow fiber regulation of muscle filament sliding speed contractile fiber regulation of ATPase activity actin filament binding cardiac muscle contraction uc003deb.1 uc003deb.2 uc003deb.3 uc003deb.4 uc003deb.5 
ENST00000232978.13 NKTR ENST00000232978.13 Homo sapiens natural killer cell triggering receptor (NKTR), transcript variant 1, mRNA. (from RefSeq NM_005385) ENST00000232978.1 ENST00000232978.10 ENST00000232978.11 ENST00000232978.12 ENST00000232978.2 ENST00000232978.3 ENST00000232978.4 ENST00000232978.5 ENST00000232978.6 ENST00000232978.7 ENST00000232978.8 ENST00000232978.9 NKTR_HUMAN NM_005385 P30414 uc003clo.1 uc003clo.2 uc003clo.3 uc003clo.4 uc003clo.5 This gene encodes a membrane-anchored protein with a hydrophobic amino terminal domain and a cyclophilin-like PPIase domain. It is present on the surface of natural killer cells and facilitates their binding to targets. Its expression is regulated by IL2 activation of the cells. [provided by RefSeq, Jul 2008]. Component of a putative tumor-recognition complex. Involved in the function of NK cells. Peptidylproline (omega=180) = peptidylproline (omega=0). Membrane; Peripheral membrane protein. Note=Attached to the membrane via its N-terminus. Phosphorylated upon DNA damage, probably by ATM or ATR. Contains 1 PPIase cyclophilin-type domain. protein peptidyl-prolyl isomerization peptidyl-prolyl cis-trans isomerase activity nucleoplasm mitochondrion cytosol plasma membrane protein folding cyclosporin A binding membrane isomerase activity protein refolding unfolded protein binding uc003clo.1 uc003clo.2 uc003clo.3 uc003clo.4 uc003clo.5 
ENST00000233027.10 NEK4 ENST00000233027.10 Homo sapiens NIMA related kinase 4 (NEK4), transcript variant 1, mRNA. (from RefSeq NM_003157) A5YM70 B2R633 B7Z200 ENST00000233027.1 ENST00000233027.2 ENST00000233027.3 ENST00000233027.4 ENST00000233027.5 ENST00000233027.6 ENST00000233027.7 ENST00000233027.8 ENST00000233027.9 NEK4_HUMAN NM_003157 P51957 Q6P576 STK2 uc003dfq.1 uc003dfq.2 uc003dfq.3 uc003dfq.4 uc003dfq.5 uc003dfq.6 The protein encoded by this gene is a serine/threonine protein kinase required for normal entry into replicative senescence. The encoded protein also is involved in cell cycle arrest in response to double-stranded DNA damage. Finally, this protein plays a role in maintaining cilium integrity, and defects in this gene have been associated with ciliopathies. [provided by RefSeq, Jan 2017]. Seems to act exclusively upon threonine residues (By similarity). ATP + a protein = ADP + a phosphoprotein. Magnesium (By similarity). Nucleus (Probable). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P51957-1; Sequence=Displayed; Name=2; IsoId=P51957-2; Sequence=VSP_037123, VSP_037124; Note=No experimental confirmation available; Name=3; IsoId=P51957-3; Sequence=VSP_043334; Note=No experimental confirmation available; Highest expression in adult heart, followed by pancreas, skeletal muscle, brain, liver, kidney, lung and placenta. Present in most primary carcinomas. Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily. Contains 1 protein kinase domain. nucleotide binding mitotic cell cycle protein kinase activity protein serine/threonine kinase activity ATP binding cytoplasm cytosol cilium protein phosphorylation cellular response to DNA damage stimulus cell cycle kinase activity phosphorylation transferase activity signal transduction by protein phosphorylation manganese ion binding activation of protein kinase activity ciliary rootlet ciliary transition zone ciliary basal body cell projection positive regulation of transcription, DNA-templated metal ion binding cell division ciliary plasm regulation of replicative cell aging regulation of cellular senescence regulation of response to DNA damage stimulus uc003dfq.1 uc003dfq.2 uc003dfq.3 uc003dfq.4 uc003dfq.5 uc003dfq.6 
ENST00000233047.9 LDAF1 ENST00000233047.9 Homo sapiens transmembrane protein 159 (TMEM159), transcript variant 4, mRNA. (from RefSeq NM_001301771) A6NMA9 ENST00000233047.1 ENST00000233047.2 ENST00000233047.3 ENST00000233047.4 ENST00000233047.5 ENST00000233047.6 ENST00000233047.7 ENST00000233047.8 NM_001301771 O00323 Q96B96 TM159_HUMAN TMEM159 uc002dih.1 uc002dih.2 uc002dih.3 uc002dih.4 uc002dih.5 uc002dih.6 Membrane; Multi-pass membrane protein (Potential). Expressed at high levels in the heart and skeletal muscle. Expressed at low levels in kidney, small intestine, lung and liver. Belongs to the TMEM159 family. protein binding membrane integral component of membrane uc002dih.1 uc002dih.2 uc002dih.3 uc002dih.4 uc002dih.5 uc002dih.6 
ENST00000233055.9 WDFY1 ENST00000233055.9 Homo sapiens WD repeat and FYVE domain containing 1 (WDFY1), mRNA. (from RefSeq NM_020830) ENST00000233055.1 ENST00000233055.2 ENST00000233055.3 ENST00000233055.4 ENST00000233055.5 ENST00000233055.6 ENST00000233055.7 ENST00000233055.8 KIAA1435 NM_020830 Q53S17 Q8IWB7 Q9H9D5 Q9P2B3 WDF1 WDFY1_HUMAN ZFYVE17 uc002vnq.1 uc002vnq.2 uc002vnq.3 uc002vnq.4 uc002vnq.5 The protein encoded by this gene is a phosphatidylinositol 3-phosphate binding protein, which contains a FYVE zinc finger domain and multiple WD-40 repeat domains. When exogenously expressed, it localizes to early endosomes. Mutagenesis analysis demonstrates that this endosomal localization is mediated by the FYVE domain. [provided by RefSeq, Jan 2015]. ##Evidence-Data-START## Transcript exon combination :: BC065934.1, SRR1660807.218551.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233055.9/ ENSP00000233055.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds PtdIns3P in vitro with high specificity over other phosphoinositides. Early endosome. The FYVE-type zinc finger domain mediates interactions with phosphatidylinositol 3-phosphate in membranes of early endosomes and penetrates bilayers. The FYVE domain insertion into PtdIns(3)P-enriched membranes is substantially increased in acidic conditions. Contains 1 FYVE-type zinc finger. Contains 7 WD repeats. Sequence=BAA92673.1; Type=Erroneous initiation; protein binding 1-phosphatidylinositol binding nucleus endosome early endosome cytosol zinc ion binding positive regulation of toll-like receptor 3 signaling pathway positive regulation of toll-like receptor 4 signaling pathway metal ion binding uc002vnq.1 uc002vnq.2 uc002vnq.3 uc002vnq.4 uc002vnq.5 
ENST00000233078.9 DAZAP1 ENST00000233078.9 Homo sapiens DAZ associated protein 1 (DAZAP1), transcript variant 2, mRNA. (from RefSeq NM_018959) DAZP1_HUMAN ENST00000233078.1 ENST00000233078.2 ENST00000233078.3 ENST00000233078.4 ENST00000233078.5 ENST00000233078.6 ENST00000233078.7 ENST00000233078.8 NM_018959 Q96EP5 Q96MJ3 Q9NRR9 uc002lsn.1 uc002lsn.2 uc002lsn.3 uc002lsn.4 uc002lsn.5 uc002lsn.6 In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. A high percentage of infertile men have deletions that map to regions of the Y chromosome. The DAZ (deleted in azoospermia) gene cluster maps to the AZFc region of the Y chromosome and is deleted in many azoospermic and severely oligospermic men. It is thought that the DAZ gene cluster arose from the transposition, amplification, and pruning of the ancestral autosomal gene DAZL also involved in germ cell development and gametogenesis. This gene encodes a RNA-binding protein with two RNP motifs that was originally identified by its interaction with the infertility factors DAZ and DAZL. Two isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]. RNA-binding protein, which may be required during spermatogenesis. Interacts with DAZ and DAZL. Cytoplasm. Nucleus. Note=Predominantly cytoplasmic (By similarity). Nuclear at some stages of spermatozoides development. In midpachytene spermatocytes, it is localized in both the cytoplasm and the nuclei and is clearly excluded from the sex vesicles. In round spermatids, it localizes mainly in the nuclei, whereas in elongated spermatids, it localizes to the cytoplasm (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96EP5-1; Sequence=Displayed; Name=2; IsoId=Q96EP5-2; Sequence=VSP_009441; Note=No experimental confirmation available; Mainly expressed in testis. Expressed to a lower level in thymus. Weakly or not expressed in heart, liver, brain, placenta, lung, skeletal muscle, kidney and pancreas. Phosphorylated upon DNA damage, probably by ATM or ATR. Acetylation at Lys-150 is predominantly observed in the nuclear fraction, and may regulate nucleocytoplasmic transport. Contains 2 RRM (RNA recognition motif) domains. Sequence=BAB71295.1; Type=Erroneous initiation; maternal placenta development nucleic acid binding RNA binding mRNA binding mRNA 3'-UTR binding protein binding nucleus nucleoplasm cytoplasm cytosol multicellular organism development spermatogenesis poly(U) RNA binding cell proliferation cell differentiation macromolecular complex poly(G) binding RNA stem-loop binding positive regulation of mRNA splicing, via spliceosome ribonucleoprotein complex uc002lsn.1 uc002lsn.2 uc002lsn.3 uc002lsn.4 uc002lsn.5 uc002lsn.6 
ENST00000233099.6 HEATR5B ENST00000233099.6 Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA. (from RefSeq NM_019024) B5MDU8 ENST00000233099.1 ENST00000233099.2 ENST00000233099.3 ENST00000233099.4 ENST00000233099.5 HTR5B_HUMAN KIAA1414 NM_019024 Q7Z3B2 Q9NVL7 Q9P2D3 uc002rpp.1 uc002rpp.2 uc002rpp.3 Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9P2D3-1; Sequence=Displayed; Name=2; IsoId=Q9P2D3-2; Sequence=VSP_029690, VSP_029691; Name=3; IsoId=Q9P2D3-3; Sequence=VSP_029692; Belongs to the HEATR5 family. Contains 3 HEAT repeats. Sequence=BAA91733.1; Type=Erroneous initiation; protein binding cytosol endocytosis protein localization membrane endocytic vesicle retrograde transport, endosome to Golgi uc002rpp.1 uc002rpp.2 uc002rpp.3 
ENST00000233121.7 MAPRE3 ENST00000233121.7 Homo sapiens microtubule associated protein RP/EB family member 3 (MAPRE3), transcript variant 1, mRNA. (from RefSeq NM_012326) B7WPK5 ENST00000233121.1 ENST00000233121.2 ENST00000233121.3 ENST00000233121.4 ENST00000233121.5 ENST00000233121.6 MARE3_HUMAN NM_012326 O00265 Q6FHB0 Q6FI15 Q9BZP7 Q9BZP8 Q9UPY8 uc002rhw.1 uc002rhw.2 uc002rhw.3 uc002rhw.4 uc002rhw.5 The protein encoded by this gene is a member of the RP/EB family of genes. The protein localizes to the cytoplasmic microtubule network and binds APCL, a homolog of the adenomatous polyposis coli tumor suppressor gene. [provided by RefSeq, Jul 2008]. Binds to the plus end of microtubules and regulates the dynamics of the microtubule cytoskeleton. Promotes microtubule growth. May be involved in spindle function by stabilizing microtubules and anchoring them at centrosomes. May play a role in cell migration (By similarity). Interacts with APC2 (By similarity). Homodimer. Heterodimer with MAPRE1. Interacts with DCTN1 and SRCIN1. Binds to the C-terminal domain of APC. Binds monomeric and polymerized tubulin. Interacts (via C-terminus) with CLIP1. Interacts with SLAIN2. P05412:JUN; NbExp=3; IntAct=EBI-726739, EBI-852823; Q9QWI6-2:Srcin1 (xeno); NbExp=5; IntAct=EBI-726739, EBI-775607; Cytoplasm, cytoskeleton. Note=Associated with the microtubule network. Detected at the plus end of microtubules. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=EBF3-L; IsoId=Q9UPY8-1; Sequence=Displayed; Name=2; Synonyms=EBF3-S; IsoId=Q9UPY8-2; Sequence=VSP_012947; Predominantly expressed in brain and muscle. Composed of two functionally independent domains. The N- terminal domain forms an hydrophobic cleft involved in microtubule binding and the C-terminal is involved in the formation of mutually exclusive complexes with APC and DCTN1. Belongs to the MAPRE family. Contains 1 CH (calponin-homology) domain. Contains 1 EB1 C-terminal domain. Sequence=AAK07556.1; Type=Erroneous initiation; Sequence=AAK07557.1; Type=Erroneous initiation; Sequence=CAA72060.1; Type=Frameshift; Positions=199; protein binding cytoplasm microtubule organizing center cytoskeleton microtubule cytoplasmic microtubule cell cycle microtubule binding protein C-terminus binding protein localization microtubule cytoskeleton protein kinase binding midbody regulation of microtubule polymerization or depolymerization regulation of microtubule polymerization microtubule plus-end protein localization to microtubule identical protein binding positive regulation of cyclin-dependent protein serine/threonine kinase activity positive regulation of protein kinase activity positive regulation of transcription, DNA-templated perinuclear region of cytoplasm microtubule plus-end binding spindle assembly spindle midzone cell division positive regulation of microtubule plus-end binding protein localization to microtubule plus-end mitotic spindle astral microtubule end uc002rhw.1 uc002rhw.2 uc002rhw.3 uc002rhw.4 uc002rhw.5 
ENST00000233143.6 TMSB10 ENST00000233143.6 Homo sapiens thymosin beta 10 (TMSB10), mRNA. (from RefSeq NM_021103) ENST00000233143.1 ENST00000233143.2 ENST00000233143.3 ENST00000233143.4 ENST00000233143.5 NM_021103 P13472 P63313 PTMB10 Q596K9 THYB10 TYB10_HUMAN uc002sow.1 uc002sow.2 uc002sow.3 Plays an important role in the organization of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization (By similarity). Cytoplasm, cytoskeleton. Found to decrease dramatically after birth. Belongs to the thymosin beta family. Sequence=AAA36746.1; Type=Erroneous initiation; Sequence=AAC41691.1; Type=Erroneous initiation; actin binding actin monomer binding protein binding cytoplasm cytoskeleton actin filament organization regulation of cell migration sequestering of actin monomers uc002sow.1 uc002sow.2 uc002sow.3 
ENST00000233154.9 NCK2 ENST00000233154.9 Homo sapiens NCK adaptor protein 2 (NCK2), transcript variant 1, mRNA. (from RefSeq NM_003581) D3DVK1 ENST00000233154.1 ENST00000233154.2 ENST00000233154.3 ENST00000233154.4 ENST00000233154.5 ENST00000233154.6 ENST00000233154.7 ENST00000233154.8 GRB4 NCK2_HUMAN NM_003581 O43639 Q9BWN9 Q9UIC3 uc002tdg.1 uc002tdg.2 uc002tdg.3 uc002tdg.4 uc002tdg.5 This gene encodes a member of the NCK family of adaptor proteins. The protein contains three SH3 domains and one SH2 domain. The protein has no known catalytic function but has been shown to bind and recruit various proteins involved in the regulation of receptor protein tyrosine kinases. It is through these regulatory activities that this protein is believed to be involved in cytoskeletal reorganization. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. Adapter protein which associates with tyrosine- phosphorylated growth factor receptors or their cellular substrates. Maintains low levels of EIF2S1 phosphorylation by promoting its dephosphorylation by PP1. Plays a role in ELK1- dependent transcriptional activation in response to activated Ras signaling. Interacts with DOCK1, LIMS1 and TGFB1I1. Part of a complex containing PPP1R15B, PP1 and NCK2. Interacts with FASLG (By similarity). Interacts with AXL. Interacts with PAK1, PKN2 and SOS1. Interacts (via SH2 domain) with EGFR. Interacts (via SH2 domain) with DDR1. Q7L0Q8:RHOU; NbExp=4; IntAct=EBI-713635, EBI-1638043; Cytoplasm. Endoplasmic reticulum. Ubiquitous. Phosphorylated. Contains 1 SH2 domain. Contains 3 SH3 domains. immunological synapse formation phosphotyrosine binding SH3/SH2 adaptor activity protein binding cytoplasm endoplasmic reticulum cytosol regulation of translation actin filament organization signal transduction signal complex assembly epidermal growth factor receptor signaling pathway regulation of epidermal growth factor-activated receptor activity cytoskeletal adaptor activity negative regulation of cell proliferation vesicle membrane postsynaptic density cell migration lamellipodium assembly receptor signaling complex scaffold activity positive regulation of actin filament polymerization negative regulation of peptidyl-serine phosphorylation positive regulation of translation in response to endoplasmic reticulum stress positive regulation of T cell proliferation T cell activation macromolecular complex binding synapse positive regulation of transcription from RNA polymerase II promoter vascular endothelial growth factor receptor signaling pathway ephrin receptor signaling pathway dendritic spine development scaffold protein binding positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway negative regulation of PERK-mediated unfolded protein response negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress uc002tdg.1 uc002tdg.2 uc002tdg.3 uc002tdg.4 uc002tdg.5 
ENST00000233156.9 TFPI ENST00000233156.9 Homo sapiens tissue factor pathway inhibitor (TFPI), transcript variant 1, mRNA. (from RefSeq NM_006287) ENST00000233156.1 ENST00000233156.2 ENST00000233156.3 ENST00000233156.4 ENST00000233156.5 ENST00000233156.6 ENST00000233156.7 ENST00000233156.8 LACI NM_006287 O95103 P10646 Q53TS4 TFPI1 TFPI1_HUMAN uc002upy.1 uc002upy.2 uc002upy.3 uc002upy.4 uc002upy.5 uc002upy.6 This gene encodes a Kunitz-type serine protease inhibitor that regulates the tissue factor (TF)-dependent pathway of blood coagulation. The coagulation process initiates with the formation of a factor VIIa-TF complex, which proteolytically activates additional proteases (factors IX and X) and ultimately leads to the formation of a fibrin clot. The product of this gene inhibits the activated factor X and VIIa-TF proteases in an autoregulatory loop. Inhibition of the encoded protein restores hemostasis in animal models of hemophilia. This gene encodes multiple protein isoforms that differ in their inhibitory activity, specificity and cellular localization. [provided by RefSeq, Jul 2016]. Inhibits factor X (X(a)) directly and, in a Xa-dependent way, inhibits VIIa/tissue factor activity, presumably by forming a quaternary Xa/LACI/VIIa/TF complex. It possesses an antithrombotic action and also the ability to associate with lipoproteins in plasma. Isoform Alpha: Secreted. Isoform Beta: Microsome membrane; Lipid- anchor, GPI-anchor. Event=Alternative splicing; Named isoforms=2; Name=Alpha; Synonyms=TFPIalpha; IsoId=P10646-1; Sequence=Displayed; Name=Beta; Synonyms=TFPIbeta; IsoId=P10646-2; Sequence=VSP_003030, VSP_003031; Note=GPI-anchored; Mostly in endothelial cells. This inhibitor contains three inhibitory domains. The first domain interacts with VIIa and TF, the second one with Xa. O-glycosylated. Contains 3 BPTI/Kunitz inhibitor domains. Name=Wikipedia; Note=TFPI entry; URL="http://en.wikipedia.org/wiki/TFPI"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/tfpi/"; endopeptidase inhibitor activity serine-type endopeptidase inhibitor activity extracellular region extracellular space endoplasmic reticulum plasma membrane caveola blood coagulation blood coagulation, extrinsic pathway hemostasis cell surface negative regulation of peptidase activity negative regulation of endopeptidase activity membrane negative regulation of blood coagulation peptidase inhibitor activity organelle membrane anchored component of membrane response to estradiol response to lipopolysaccharide intracellular membrane-bounded organelle cellular response to lipopolysaccharide cellular response to interleukin-1 cellular response to steroid hormone stimulus uc002upy.1 uc002upy.2 uc002upy.3 uc002upy.4 uc002upy.5 uc002upy.6 
ENST00000233190.11 NDUFS1 ENST00000233190.11 Homo sapiens NADH:ubiquinone oxidoreductase core subunit S1 (NDUFS1), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_005006) B4DJA0 B4DPG1 B4DUC1 ENST00000233190.1 ENST00000233190.10 ENST00000233190.2 ENST00000233190.3 ENST00000233190.4 ENST00000233190.5 ENST00000233190.6 ENST00000233190.7 ENST00000233190.8 ENST00000233190.9 NDUS1_HUMAN NM_005006 P28331 Q53TR8 Q8N1C4 Q8TCC9 uc002vbe.1 uc002vbe.2 uc002vbe.3 uc002vbe.4 uc002vbe.5 The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]. Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). This is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. NADH + ubiquinone = NAD(+) + ubiquinol. NADH + acceptor = NAD(+) + reduced acceptor. Binds 1 2Fe-2S cluster per subunit (By similarity). Binds 2 4Fe-4S clusters per subunit (By similarity). Complex I is composed of 45 different subunits. Mitochondrion inner membrane. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=P28331-1; Sequence=Displayed; Name=2; IsoId=P28331-2; Sequence=VSP_042682; Note=No experimental confirmation available; Name=3; IsoId=P28331-3; Sequence=VSP_043728, VSP_043729; Note=No experimental confirmation available; Name=4; IsoId=P28331-4; Sequence=VSP_043727; Note=No experimental confirmation available; Defects in NDUFS1 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the mitochondrial respiratory chain that causes a wide range of clinical disorders, from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. Belongs to the complex I 75 kDa subunit family. Contains 1 2Fe-2S ferredoxin-type domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NDUFS1"; NADH dehydrogenase activity protein binding mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex I mitochondrial intermembrane space mitochondrial matrix mitochondrial electron transport, NADH to ubiquinone NADH dehydrogenase (ubiquinone) activity apoptotic mitochondrial changes electron carrier activity membrane oxidoreductase activity oxidoreductase activity, acting on NAD(P)H mitochondrial respiratory chain complex I assembly ATP synthesis coupled electron transport cellular respiration ATP metabolic process metal ion binding iron-sulfur cluster binding 2 iron, 2 sulfur cluster binding 4 iron, 4 sulfur cluster binding regulation of mitochondrial membrane potential oxidation-reduction process respiratory chain reactive oxygen species metabolic process uc002vbe.1 uc002vbe.2 uc002vbe.3 uc002vbe.4 uc002vbe.5 
ENST00000233202.11 SLC11A1 ENST00000233202.11 Homo sapiens solute carrier family 11 member 1 (SLC11A1), mRNA. (from RefSeq NM_000578) ENST00000233202.1 ENST00000233202.10 ENST00000233202.2 ENST00000233202.3 ENST00000233202.4 ENST00000233202.5 ENST00000233202.6 ENST00000233202.7 ENST00000233202.8 ENST00000233202.9 LSH NM_000578 NRAM1_HUMAN NRAMP NRAMP1 P49279 uc002vhv.1 uc002vhv.2 uc002vhv.3 uc002vhv.4 This gene is a member of the solute carrier family 11 (proton-coupled divalent metal ion transporters) family and encodes a multi-pass membrane protein. The protein functions as a divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. Mutations in this gene have been associated with susceptibility to infectious diseases such as tuberculosis and leprosy, and inflammatory diseases such as rheumatoid arthritis and Crohn disease. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803613.36007.1, D50402.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA2142363 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233202.11/ ENSP00000233202.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. Macrophage-specific membrane transport function. Controls natural resistance to infection with intracellular parasites. Pathogen resistance involves sequestration of Fe(2+) and Mn(2+), cofactors of both prokaryotic and eukaryotic catalases and superoxide dismutases, not only to protect the macrophage against its own generation of reactive oxygen species, but to deny the cations to the pathogen for synthesis of its protective enzymes. Membrane; Multi-pass membrane protein (Probable). Macrophages; peripheral blood leukocytes, lung, spleen and liver. In response to lymphokine or bacterial products. Genetic variation in SLC11A1 is associated with susceptibility to infection with Mycobacterium ulcerans [MIM:610446]. Genetic variations in SLC11A1 determine Mycobacterium tuberculosis susceptibility [MIM:607948]. Belongs to the NRAMP family. negative regulation of cytokine production positive regulation of cytokine production T cell proliferation involved in immune response T cell cytokine production positive regulation of dendritic cell antigen processing and presentation positive regulation of T-helper 1 type immune response iron ion transmembrane transporter activity manganese ion transmembrane transporter activity lysosome late endosome plasma membrane integral component of plasma membrane ion transport iron ion transport manganese ion transport cellular cadmium ion homeostasis cellular iron ion homeostasis phagocytosis inflammatory response vacuolar acidification response to bacterium endosome membrane positive regulation of gene expression cadmium ion transmembrane transporter activity nitrite transport membrane integral component of membrane antimicrobial humoral response metal ion transport phagocytic vesicle membrane late endosome membrane activation of protein kinase activity response to lipopolysaccharide interleukin-2 production interleukin-3 production positive regulation of interferon-gamma production response to interferon-gamma iron ion transmembrane transport wound healing macrophage activation defense response to bacterium protein homodimerization activity defense response to protozoan neutrophil degranulation MHC class II biosynthetic process cell redox homeostasis respiratory burst positive regulation of transcription from RNA polymerase II promoter metal ion transmembrane transporter activity transition metal ion transmembrane transporter activity antigen processing and presentation of peptide antigen mRNA stabilization positive regulation of phagocytosis defense response to Gram-negative bacterium metal ion:proton antiporter activity iron ion homeostasis multicellular organismal iron ion homeostasis cadmium ion transmembrane transport tertiary granule membrane divalent metal ion export manganese ion transmembrane transport ficolin-1-rich granule membrane L-arginine transport uc002vhv.1 uc002vhv.2 uc002vhv.3 uc002vhv.4 
ENST00000233242.5 APOB ENST00000233242.5 Homo sapiens apolipoprotein B (APOB), mRNA. (from RefSeq NM_000384) APOB_HUMAN ENST00000233242.1 ENST00000233242.2 ENST00000233242.3 ENST00000233242.4 NM_000384 O00502 P04114 P78479 P78480 P78481 Q13779 Q13785 Q13786 Q13787 Q13788 Q4ZG63 Q53QC8 Q7Z600 Q9UMN0 uc002red.1 uc002red.2 uc002red.3 This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins (LDL), and is the ligand for the LDL receptor. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Dec 2019]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X04506.1, HM487065.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN04284274 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233242.5/ ENSP00000233242.1 RefSeq Select criteria :: based on single protein-coding transcript undergoes RNA editing :: PMID: 16920700, 11727199 ##RefSeq-Attributes-END## Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor. Interacts with PCSK9. Cytoplasm. Secreted. Up-regulated in response to enterovirus 71 (EV71) infection (at protein level). Palmitoylated; structural requirement for proper assembly of the hydrophobic core of the lipoprotein particle. Modified_positions=2180; Note=The stop codon (UAA) at position 2180 is created by RNA editing. Apo B-48, derived from the fully edited RNA, is produced only in the intestine and is found in chylomicrons. Apo B-48 is a shortened form of apo B-100 which lacks the LDL-receptor region. The unedited version (apo B- 100) is produced by the liver and is found in the VLDL and LDL. Defects in APOB are a cause of familial hypobetalipoproteinemia type 1 (FHBL1) [MIM:107730]. A disorder characterized by highly reduced plasma concentrations of low density lipoproteins, and dietary fat malabsorption. Clinical presentation may vary from no symptoms to severe gastrointestinal and neurological dysfunction similar to abetalipoproteinemia. Defects in APOB are a cause of familial ligand-defective apolipoprotein B-100 (FDB) [MIM:144010]. FDB is a dominantly inherited disorder of lipoprotein metabolism leading to hypercholesterolemia and increased proneness to coronary artery disease (CAD). The plasma cholesterol levels are dramatically elevated due to impaired clearance of LDL particles by defective APOB/E receptors. Note=Defects in APOB associated with defects in other genes (polygenic) can contribute to hypocholesterolemia. Contains 1 vitellogenin domain. Sequence=AAA51752.1; Type=Frameshift; Positions=942, 951, 1139, 1165, 1164, 1371, 1385; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APOB"; Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APOB"; Name=Wikipedia; Note=Apolipoprotein B entry; URL="http://en.wikipedia.org/wiki/Apolipoprotein_B"; retinoid metabolic process in utero embryonic development toll-like receptor signaling pathway lipid transporter activity protein binding phospholipid binding extracellular region extracellular space cytoplasm early endosome endoplasmic reticulum endoplasmic reticulum lumen endoplasmic reticulum membrane smooth endoplasmic reticulum cytosol plasma membrane lipid metabolic process triglyceride mobilization lipid transport receptor-mediated endocytosis spermatogenesis nervous system development heparin binding steroid metabolic process cholesterol metabolic process fertilization response to virus response to carbohydrate post-embryonic development endosome membrane response to organic substance response to selenium ion positive regulation of gene expression positive regulation of macrophage derived foam cell differentiation positive regulation of lipid storage positive regulation of cholesterol storage vesicle membrane lipid catabolic process triglyceride catabolic process cholesterol transport flagellated sperm motility clathrin-coated endocytic vesicle membrane endosome lumen vesicle lumen response to estradiol response to lipopolysaccharide cholesterol efflux mature chylomicron chylomicron remnant very-low-density lipoprotein particle low-density lipoprotein particle intermediate-density lipoprotein particle high-density lipoprotein particle chylomicron remodeling low-density lipoprotein particle remodeling chylomicron assembly very-low-density lipoprotein particle assembly chylomicron remnant clearance low-density lipoprotein particle clearance very-low-density lipoprotein particle clearance lipase binding lipoprotein metabolic process lipoprotein biosynthetic process lipoprotein catabolic process chylomicron cholesterol homeostasis lipoprotein transport neuronal cell body lysosomal lumen intracellular membrane-bounded organelle post-translational protein modification cellular protein metabolic process regulation of cholesterol biosynthetic process artery morphogenesis low-density lipoprotein particle receptor binding leukocyte migration membrane organization extracellular exosome endoplasmic reticulum exit site cellular response to tumor necrosis factor cellular response to prostaglandin stimulus endocytic vesicle lumen uc002red.1 uc002red.2 uc002red.3 
ENST00000233331.12 INO80B ENST00000233331.12 Homo sapiens INO80 complex subunit B (INO80B), mRNA. (from RefSeq NM_031288) ENST00000233331.1 ENST00000233331.10 ENST00000233331.11 ENST00000233331.2 ENST00000233331.3 ENST00000233331.4 ENST00000233331.5 ENST00000233331.6 ENST00000233331.7 ENST00000233331.8 ENST00000233331.9 HMGA1L4 IN80B_HUMAN NM_031288 PAPA1 Q9C086 ZNHIT4 uc002slg.1 uc002slg.2 uc002slg.3 uc002slg.4 This gene encodes a subunit of an ATP-dependent chromatin remodeling complex, INO80, which plays a role in DNA and nucleosome-activated ATPase activity and ATP-dependent nucleosome sliding. Readthrough transcription of this gene into the neighboring downstream gene, which encodes WW domain-binding protein 1, generates a non-coding transcript. [provided by RefSeq, Feb 2011]. ##Evidence-Data-START## Transcript exon combination :: BC064425.1, ERR279845.3562.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233331.12/ ENSP00000233331.7 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Induces growth and cell cycle arrests at the G1 phase of the cell cycle. Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. Component of the chromatin remodeling INO80 complex; specifically part of a complex module associated with the helicase ATP-binding and the helicase C-terminal domain of INO80. Interacts with RP9. P18065:IGFBP2; NbExp=4; IntAct=EBI-715611, EBI-2504392; Nucleus. Nucleus, nucleolus. Contains 1 HIT-type zinc finger. Sequence=BAB21111.1; Type=Erroneous initiation; Note=Translation N-terminally extended; protein binding nucleus nucleoplasm nucleolus DNA repair DNA recombination chromatin remodeling cellular response to DNA damage stimulus protein deubiquitination Ino80 complex metal ion binding uc002slg.1 uc002slg.2 uc002slg.3 uc002slg.4 
ENST00000233336.7 TTL ENST00000233336.7 Homo sapiens tubulin tyrosine ligase (TTL), transcript variant 1, mRNA. (from RefSeq NM_153712) ENST00000233336.1 ENST00000233336.2 ENST00000233336.3 ENST00000233336.4 ENST00000233336.5 ENST00000233336.6 NM_153712 Q585T3 Q7Z302 Q8N426 Q8NG68 TTL_HUMAN uc002thu.1 uc002thu.2 uc002thu.3 uc002thu.4 uc002thu.5 TTL is a cytosolic enzyme involved in the posttranslational modification of alpha-tubulin (see MIM 602529). Alpha-tubulin within assembled microtubules is detyrosinated over time at the C terminus. After microtubule disassembly, TTL restores the tyrosine residues and consequently participates in a cycle of tubulin detyrosination and tyrosination (Erck et al., 2003 [PubMed 14571137]).[supplied by OMIM, Mar 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1803616.85951.1, SRR1803616.219745.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233336.7/ ENSP00000233336.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Catalyzes the post-translational addition of a tyrosine to the C-terminal end of detyrosinated alpha-tubulin (By similarity). ATP + detyrosinated alpha-tubulin + L-tyrosine = alpha-tubulin + ADP + phosphate. Magnesium (By similarity). Potassium (By similarity). Monomer (By similarity). Belongs to the tubulin--tyrosine ligase family. Contains 1 TTL domain. nucleotide binding microtubule cytoskeleton organization tubulin-tyrosine ligase activity ATP binding cell cellular protein modification process ligase activity C-terminal protein-tyrosinylation regulation of axon extension positive regulation of mitotic cell cycle regulation of metaphase plate congression uc002thu.1 uc002thu.2 uc002thu.3 uc002thu.4 uc002thu.5 
ENST00000233379.9 FAHD2A ENST00000233379.9 Homo sapiens fumarylacetoacetate hydrolase domain containing 2A (FAHD2A), mRNA. (from RefSeq NM_016044) CGI-105 ENST00000233379.1 ENST00000233379.2 ENST00000233379.3 ENST00000233379.4 ENST00000233379.5 ENST00000233379.6 ENST00000233379.7 ENST00000233379.8 FAH2A_HUMAN NM_016044 Q96GK7 Q9Y3B0 uc002sut.1 uc002sut.2 uc002sut.3 May have hydrolase activity (By similarity). Calcium (Probable). Magnesium (Probable). Belongs to the FAH family. catalytic activity hydrolase activity metal ion binding uc002sut.1 uc002sut.2 uc002sut.3 
ENST00000233468.5 SF3B6 ENST00000233468.5 Homo sapiens splicing factor 3b subunit 6 (SF3B6), mRNA. (from RefSeq NM_016047) CGI-110 ENST00000233468.1 ENST00000233468.2 ENST00000233468.3 ENST00000233468.4 HSPC175 HT006 NM_016047 PM14_HUMAN Q9Y3B4 SF3B14 uc002rev.1 uc002rev.2 uc002rev.3 uc002rev.4 uc002rev.5 This gene encodes a 14 kDa protein subunit of the splicing factor 3b complex. Splicing factor 3b associates with both the U2 and U11/U12 small nuclear ribonucleoprotein complexes (U2 snRNP) of spliceosomes. This 14 kDa protein interacts directly with subunit 1 of the splicing factor 3b complex. This 14 kDa protein also interacts directly with the adenosine that carries out the first transesterification step of splicing at the pre-mRNA branch site. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.172119.1, SRR1163657.34312.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233468.5/ ENSP00000233468.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Necessary for the splicing of pre-mRNA. Directly contacts the pre-mRNA branch site adenosine for the first catalytic step of splicing. Enters the spliceosome and associates with the pre-mRNA branch site as part of the 17S U2 or, in the case of the minor spliceosome, as part of the 18S U11/U12 snRNP complex, and thus may facilitate the interaction of these snRNP with the branch sites of U2 and U12 respectively. Component of the splicing factor SF3b complex. Interacts with SF3B1/SF3b155. Component of the U11/U12 snRNPs that are part of the U12-type spliceosome. Nucleus (Potential). Contains 1 RRM (RNA recognition motif) domain. mRNA splicing, via spliceosome blastocyst formation nucleic acid binding RNA binding mRNA binding protein binding nucleus nucleoplasm spliceosomal complex U12-type spliceosomal complex mRNA processing RNA splicing uc002rev.1 uc002rev.2 uc002rev.3 uc002rev.4 uc002rev.5 
ENST00000233535.9 SLC30A3 ENST00000233535.9 Homo sapiens solute carrier family 30 member 3 (SLC30A3), transcript variant 1, mRNA. (from RefSeq NM_003459) ENST00000233535.1 ENST00000233535.2 ENST00000233535.3 ENST00000233535.4 ENST00000233535.5 ENST00000233535.6 ENST00000233535.7 ENST00000233535.8 NM_003459 Q8TC03 Q99726 ZNT3 ZNT3_HUMAN uc002rjk.1 uc002rjk.2 uc002rjk.3 uc002rjk.4 uc002rjk.5 Involved in accumulation of zinc in synaptic vesicles (By similarity). Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Multi-pass membrane protein (Probable). Cell junction, synapse, synaptosome (By similarity). Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. zinc ion transmembrane transporter activity protein binding cytoplasm lysosome lysosomal membrane endosome late endosome plasma membrane integral component of plasma membrane ion transport cation transport zinc II ion transport synaptic vesicle cation transmembrane transporter activity response to zinc ion zinc-transporting ATPase activity membrane integral component of membrane cell junction integral component of synaptic vesicle membrane synaptic vesicle membrane cytoplasmic vesicle late endosome membrane neuron projection synapse positive regulation of transport transmembrane transport regulation of sequestering of zinc ion zinc II ion transmembrane transport glutamatergic synapse uc002rjk.1 uc002rjk.2 uc002rjk.3 uc002rjk.4 uc002rjk.5 
ENST00000233557.7 NRBP1 ENST00000233557.7 Homo sapiens nuclear receptor binding protein 1 (NRBP1), transcript variant 2, mRNA. (from RefSeq NM_001321357) B3KV40 BCON3 D6W558 ENST00000233557.1 ENST00000233557.2 ENST00000233557.3 ENST00000233557.4 ENST00000233557.5 ENST00000233557.6 NM_001321357 NRBP NRBP_HUMAN Q53FZ5 Q96SU3 Q9UHY1 uc002rko.1 uc002rko.2 uc002rko.3 uc002rko.4 May play a role in subcellular trafficking between the endoplasmic reticulum and Golgi apparatus through interactions with the Rho-type GTPases. Binding to the NS3 protein of dengue virus type 2 appears to subvert this activity into the alteration of the intracellular membrane structure associated with flaviviral replication. Homodimer. Binds to MLF1, recruiting a serine kinase which phosphorylates both itself and MLF1. Phosphorylated MLF1 binds to YWHAZ and is retained in the cytoplasm (By similarity). P14340:- (xeno); NbExp=4; IntAct=EBI-749731, EBI-465733; P60763:RAC3; NbExp=3; IntAct=EBI-749731, EBI-767084; Cytoplasm, cell cortex. Endomembrane system. Cell projection, lamellipodium. Note=Colocalizes with activated RAC3 to endomembranes and at the cell periphery in lamellipodia. Ubiquitously expressed in all tissues examined with high levels in the testis. The protein kinase domain is predicted to be catalytically inactive. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. Contains 1 protein kinase domain. Author states that kinase activity observed in PubMed:11956649 may be due to sample contamination. This protein is predicted to be catalytically inactive. protein binding ATP binding nucleoplasm cytoplasm cell cortex transcription initiation from RNA polymerase II promoter protein phosphorylation ER to Golgi vesicle-mediated transport endomembrane system membrane lamellipodium intracellular signal transduction protein homodimerization activity cell projection protein serine/threonine kinase activity uc002rko.1 uc002rko.2 uc002rko.3 uc002rko.4 
ENST00000233575.7 SNX17 ENST00000233575.7 Homo sapiens sorting nexin 17 (SNX17), transcript variant 5, non-coding RNA. (from RefSeq NR_049782) ENST00000233575.1 ENST00000233575.2 ENST00000233575.3 ENST00000233575.4 ENST00000233575.5 ENST00000233575.6 KIAA0064 NR_049782 Q15036 Q53HN7 Q6IAS3 SNX17_HUMAN uc002rkg.1 uc002rkg.2 uc002rkg.3 uc002rkg.4 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a B41 domain. This protein interacts with the cytoplasmic domain of P-selectin, and may function in the intracellular trafficking of P-selectin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]. May be involved in several stages of intracellular protein trafficking. Plays a role in the sorting of endocytosed LRP1 and APP, and prevents their degradation. Required for maintenance of normal cell surface levels of APP and LRP1. Interacts with membranes containing phosphatidylinositol 3- phosphate (PtdIns(3P)). Interacts with APP (via cytoplasmic YXNPXY motif). Interacts with KIF1B (By similarity). Interacts with the C-termini of P-selectin, PTC, LDLR, VLDLR, LRP1 and LRP8. Interacts with KRIT1 (via N-terminus). P16333:NCK1; NbExp=3; IntAct=EBI-1752620, EBI-389883; P19174:PLCG1; NbExp=2; IntAct=EBI-1752620, EBI-79387; Cytoplasm. Early endosome. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. The PX domain mediates specific binding to phosphatidylinositol 3-phosphate (PtdIns(P3)). Required for association with endosomes. Belongs to the sorting nexin family. Contains 1 PX (phox homology) domain. Contains 1 Ras-associating domain. Sequence=BAA06542.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; cardiac septum development receptor binding protein binding cytoplasm endosome early endosome Golgi apparatus cytosol cholesterol catabolic process intracellular protein transport receptor-mediated endocytosis signal transduction protein C-terminus binding lipid binding endosome membrane protein transport membrane endosomal transport regulation of endocytosis cytoplasmic vesicle membrane cytoplasmic vesicle endocytic recycling macromolecular complex phosphatidylinositol binding aorta development intracellular membrane-bounded organelle low-density lipoprotein particle receptor binding coronary vasculature development retrograde transport, endosome to plasma membrane uc002rkg.1 uc002rkg.2 uc002rkg.3 uc002rkg.4 
ENST00000233596.8 REEP6 ENST00000233596.8 Homo sapiens receptor accessory protein 6 (REEP6), transcript variant 2, mRNA. (from RefSeq NM_138393) B2RE01 C19orf32 D6W5Z0 DP1L1 ENST00000233596.1 ENST00000233596.2 ENST00000233596.3 ENST00000233596.4 ENST00000233596.5 ENST00000233596.6 ENST00000233596.7 NM_138393 Q96HR9 Q96LM0 REEP6_HUMAN uc002ltc.1 uc002ltc.2 uc002ltc.3 uc002ltc.4 uc002ltc.5 The protein encoded by this gene may be involved in the transport of receptors from the endoplasmic reticulum (ER) to the cell surface. The encoded protein may also play a role in regulating ER membrane structure. This gene is required for the proper development of retinal rods and photoreceptors, with defects in this gene being associated with retinitis pigmentosa 77. [provided by RefSeq, May 2017]. May enhance the cell surface expression of odorant receptors (By similarity). Interacts with odorant receptor proteins (By similarity). Membrane; Multi-pass membrane protein (By similarity). Belongs to the DP1 family. photoreceptor inner segment protein binding nucleus endoplasmic reticulum endoplasmic reticulum membrane membrane integral component of membrane clathrin-coated vesicle membrane cytoplasmic vesicle regulation of intracellular transport rod spherule apical part of cell detection of light stimulus involved in visual perception uc002ltc.1 uc002ltc.2 uc002ltc.3 uc002ltc.4 uc002ltc.5 
ENST00000233615.7 WBP1 ENST00000233615.7 Homo sapiens WW domain binding protein 1 (WBP1), mRNA. (from RefSeq NM_012477) B2RE02 ENST00000233615.1 ENST00000233615.2 ENST00000233615.3 ENST00000233615.4 ENST00000233615.5 ENST00000233615.6 NM_012477 O95637 Q96G27 WBP1_HUMAN uc002slj.1 uc002slj.2 uc002slj.3 uc002slj.4 The globular WW domain, named for the conserved tryptophan residues in the protein motif present in various structural and regulatory proteins, is known to play a role in the mediation of protein-protein interactions. This gene encodes a ligand of the WW domain of the Yes kinase-associated protein. Readthrough transcription of the neighboring upstream gene, which encodes INO80 complex subunit B, into this gene generates a non-coding transcript. [provided by RefSeq, Feb 2011]. ##Evidence-Data-START## Transcript exon combination :: BC071626.1, BC010012.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233615.7/ ENSP00000233615.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Interacts with NEDD4 (By similarity). Binds to the WW domain of YAP1, WWP1 and WWP2. Interacts with WWOX. Expressed in most tissues but at significantly lower levels in placenta, lung, liver, and kidney. The WW-binding 2 motif mediates interaction with WWOX. Both WW-binding motifs mediate interaction with NEDD4 (By similarity). Sequence=AAD10950.1; Type=Erroneous initiation; protein binding cellular_component biological_process WW domain binding uc002slj.1 uc002slj.2 uc002slj.3 uc002slj.4 
ENST00000233623.11 TTC31 ENST00000233623.11 Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 20, non-coding RNA. (from RefSeq NR_164773) ENST00000233623.1 ENST00000233623.10 ENST00000233623.2 ENST00000233623.3 ENST00000233623.4 ENST00000233623.5 ENST00000233623.6 ENST00000233623.7 ENST00000233623.8 ENST00000233623.9 NR_164773 Q49AM3 Q4KN40 Q53FD4 Q9H9F7 TTC31_HUMAN uc002slt.1 uc002slt.2 uc002slt.3 uc002slt.4 uc002slt.5 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q49AM3-1; Sequence=Displayed; Name=2; IsoId=Q49AM3-2; Sequence=VSP_023990, VSP_023991; Contains 3 TPR repeats. uc002slt.1 uc002slt.2 uc002slt.3 uc002slt.4 uc002slt.5 
ENST00000233627.14 NDUFS7 ENST00000233627.14 Homo sapiens NADH:ubiquinone oxidoreductase core subunit S7 (NDUFS7), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_024407) ENST00000233627.1 ENST00000233627.10 ENST00000233627.11 ENST00000233627.12 ENST00000233627.13 ENST00000233627.2 ENST00000233627.3 ENST00000233627.4 ENST00000233627.5 ENST00000233627.6 ENST00000233627.7 ENST00000233627.8 ENST00000233627.9 NM_024407 Q7LD69 Q7LD69_HUMAN uc002lse.1 uc002lse.2 uc002lse.3 uc002lse.4 uc002lse.5 uc002lse.6 This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK222738.1, SRR1163657.243667.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000233627.14/ ENSP00000233627.9 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Belongs to the complex I 20 kDa subunit family. protease binding NADH dehydrogenase (ubiquinone) activity neuron projection neuronal cell body metal ion binding quinone binding iron-sulfur cluster binding 4 iron, 4 sulfur cluster binding oxidation-reduction process synaptic membrane uc002lse.1 uc002lse.2 uc002lse.3 uc002lse.4 uc002lse.5 uc002lse.6 
ENST00000233630.11 PCGF1 ENST00000233630.11 Homo sapiens polycomb group ring finger 1 (PCGF1), mRNA. (from RefSeq NM_032673) ENST00000233630.1 ENST00000233630.10 ENST00000233630.2 ENST00000233630.3 ENST00000233630.4 ENST00000233630.5 ENST00000233630.6 ENST00000233630.7 ENST00000233630.8 ENST00000233630.9 NM_032673 NSPC1 PCGF1_HUMAN Q7Z506 Q9BSM1 RNF68 uc002slz.1 uc002slz.2 uc002slz.3 uc002slz.4 uc002slz.5 PCGF1 is a mammalian homolog of the Drosophila polycomb group genes, which act as transcriptional repressors to regulate anterior-posterior patterning in early embryonic development (Nunes et al., 2001 [PubMed 11287196]). See also PCGF2 (MIM 600346).[supplied by OMIM, Aug 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.331340.1, SRR1163655.595382.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233630.11/ ENSP00000233630.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Component of the Polycomb group (PcG) multiprotein BCOR complex, a complex required to maintain the transcriptionally repressive state of some genes, such as BCL6 and the cyclin- dependent kinase inhibitor, CDKN1A. Transcriptional repressor that may be targeted to the DNA by BCL6; this transcription repressor activity may be related to PKC signaling pathway. Represses CDKN1A expression by binding to its promoter, and this repression is dependent on the retinoic acid response element (RARE element). Promotes cell cycle progression and enhances cell proliferation as well. May have a positive role in tumor cell growth by down- regulating CDKN1A. Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Component of repressive BCOR complex containing Polycomb group subcomplex at least composed of RYBP, RING1 and RNF2/RING2. Specifically interacts with BCOR, RING1 and RNF2/RING2. Component of a PRC1-like complex. Interacts with CBX6, CBX7 and CBX8. Q6W2J9:BCOR; NbExp=6; IntAct=EBI-749901, EBI-950027; Q9HC52:CBX8; NbExp=2; IntAct=EBI-749901, EBI-712912; Q06587:RING1; NbExp=5; IntAct=EBI-749901, EBI-752313; Q99496:RNF2; NbExp=4; IntAct=EBI-749901, EBI-722416; Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BSM1-1; Sequence=Displayed; Name=2; IsoId=Q9BSM1-3; Sequence=VSP_036393; Ubiquitous. Contains 1 RING-type zinc finger. Sequence=AAH04952.1; Type=Erroneous initiation; Sequence=AAP97183.1; Type=Erroneous initiation; negative regulation of transcription from RNA polymerase II promoter protein binding nucleus nucleoplasm chromatin silencing regulation of transcription, DNA-templated protein C-terminus binding PcG protein complex PRC1 complex histone H2A monoubiquitination histone H2A-K119 monoubiquitination metal ion binding promoter-specific chromatin binding uc002slz.1 uc002slz.2 uc002slz.3 uc002slz.4 uc002slz.5 
ENST00000233638.8 TLX2 ENST00000233638.8 Homo sapiens T cell leukemia homeobox 2 (TLX2), mRNA. (from RefSeq NM_016170) ENST00000233638.1 ENST00000233638.2 ENST00000233638.3 ENST00000233638.4 ENST00000233638.5 ENST00000233638.6 ENST00000233638.7 HOX11L1 NCX NM_016170 O43763 Q9UD56 Q9UQ48 TLX2_HUMAN uc002smb.1 uc002smb.2 uc002smb.3 uc002smb.4 This gene is a member of an orphan homeobox-containing transcription factor family. Studies of the mouse ortholog have shown that the encoded protein is crucial for the development of the enteric nervous system; in humans, loss-of-function may play a role in tumorigenesis of gastrointestinal stromal tumors. [provided by RefSeq, May 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC006356.2, AB008501.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2161674 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233638.8/ ENSP00000233638.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcription activator that binds DNA elements with the consensus sequence 5'-CGGTAATTGG-3'. Binds DNA via its homeobox. Required for normal cell death of enteric neurons in the gastrointestinal tract. Required for normal development of the enteric nervous system, and for proper development of normal motility of the gastrointestinal tract (By similarity). Nucleus (Probable). Contains 1 homeobox DNA-binding domain. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding mesoderm formation DNA binding transcription factor activity, sequence-specific DNA binding cellular_component nucleus cytoplasm regulation of transcription, DNA-templated multicellular organism development sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter enteric nervous system development negative regulation of dendrite morphogenesis uc002smb.1 uc002smb.2 uc002smb.3 uc002smb.4 
ENST00000233668.10 DOK1 ENST00000233668.10 Homo sapiens docking protein 1 (DOK1), transcript variant 1, mRNA. (from RefSeq NM_001381) DOK1_HUMAN ENST00000233668.1 ENST00000233668.2 ENST00000233668.3 ENST00000233668.4 ENST00000233668.5 ENST00000233668.6 ENST00000233668.7 ENST00000233668.8 ENST00000233668.9 NM_001381 O43204 Q53TY2 Q99704 Q9UHG6 uc002sms.1 uc002sms.2 uc002sms.3 uc002sms.4 uc002sms.5 The protein encoded by this gene is part of a signal transduction pathway downstream of receptor tyrosine kinases. The encoded protein is a scaffold protein that helps form a platform for the assembly of multiprotein signaling complexes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK055944.1, SRR1163655.92502.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK1 appears to be a negative regulator of the insulin signaling pathway. Modulates integrin activation by competing with talin for the same binding site on ITGB3. Interacts with ABL1 (By similarity). Interacts with RasGAP and INPP5D/SHIP1. Interacts directly with phosphorylated ITGB3. Q9Q2G4:ORF (xeno); NbExp=2; IntAct=EBI-1384360, EBI-6248094; Isoform 1: Cytoplasm. Isoform 3: Cytoplasm, perinuclear region. Event=Alternative splicing, Alternative initiation; Named isoforms=3; Name=1; Synonyms=p62Dok1; IsoId=Q99704-1; Sequence=Displayed; Name=2; Synonyms=p22Dokdel; IsoId=Q99704-2; Sequence=VSP_003852, VSP_003853; Name=3; Synonyms=p44Dok; IsoId=Q99704-3; Sequence=VSP_038224; Note=Produced by alternative initiation at Met-140 of isoform 1. Acetylated on Met-1; Expressed in pancreas, heart, leukocyte and spleen. Expressed in both resting and activated peripheral blood T-cells. The PTB domain mediates receptor interaction. Constitutively tyrosine-phosphorylated. Phosphorylated by TEC (By similarity). Phosphorylated by LYN (By similarity). Phosphorylated on tyrosine residues by the insulin receptor kinase. Results in the negative regulation of the insulin signaling pathway. Isoform 3 contains a N-acetylmethionine at position 1. Belongs to the DOK family. Type A subfamily. Contains 1 IRS-type PTB domain. Contains 1 PH domain. protein binding nucleus cytoplasm cytosol signal transduction cell surface receptor signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway Ras protein signal transduction axon guidance intracellular signal transduction macrophage colony-stimulating factor signaling pathway positive regulation of epidermal growth factor receptor signaling pathway perinuclear region of cytoplasm uc002sms.1 uc002sms.2 uc002sms.3 uc002sms.4 uc002sms.5 
ENST00000233710.4 ACADL ENST00000233710.4 Homo sapiens acyl-CoA dehydrogenase long chain (ACADL), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001608) ACADL_HUMAN B2R8T3 ENST00000233710.1 ENST00000233710.2 ENST00000233710.3 NM_001608 P28330 Q8IUN8 uc002vdz.1 uc002vdz.2 uc002vdz.3 uc002vdz.4 uc002vdz.5 uc002vdz.6 The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.176300.1, SRR1803616.261303.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000233710.4/ ENSP00000233710.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Long-chain-acyl-CoA + electron-transfer flavoprotein = long-chain-2,3-dehydroacyl-CoA + reduced electron- transfer flavoprotein. FAD. Lipid metabolism; mitochondrial fatty acid beta- oxidation. Homotetramer. Mitochondrion matrix. Defects in ACADL are a cause of acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]. An inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form characterized by early onset, high mortality and high incidence of cardiomyopathy; a milder childhood form with later onset, characterized by hypoketotic hypoglycemia, low mortality and rare cardiomyopathy; an adult form, with isolated skeletal muscle involvement, rhabdomyolysis and myoglobinuria, usually triggered by exercise or fasting. A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues. Belongs to the acyl-CoA dehydrogenase family. fatty-acyl-CoA binding temperature homeostasis acyl-CoA dehydrogenase activity long-chain-acyl-CoA dehydrogenase activity mitochondrion mitochondrial matrix lipid metabolic process fatty acid metabolic process fatty acid beta-oxidation palmitoyl-CoA oxidase activity oxidoreductase activity oxidoreductase activity, acting on the CH-CH group of donors carnitine metabolic process, CoA-linked mitochondrial membrane fatty acid beta-oxidation using acyl-CoA dehydrogenase carnitine catabolic process long-chain fatty acid catabolic process cellular lipid catabolic process negative regulation of fatty acid biosynthetic process negative regulation of fatty acid oxidation flavin adenine dinucleotide binding protein homotetramerization oxidation-reduction process regulation of cholesterol metabolic process uc002vdz.1 uc002vdz.2 uc002vdz.3 uc002vdz.4 uc002vdz.5 uc002vdz.6 
ENST00000233712.5 EVA1A ENST00000233712.5 Homo sapiens eva-1 homolog A, regulator of programmed cell death (EVA1A), transcript variant 2, mRNA. (from RefSeq NM_032181) D6W5J3 ENST00000233712.1 ENST00000233712.2 ENST00000233712.3 ENST00000233712.4 F176A_HUMAN FAM176A NM_032181 Q9H8M9 Q9HC41 SP24 TMEM166 uc002snk.1 Acts as a regulator of programmed cell death, mediating both autophagy and apoptosis. Endoplasmic reticulum membrane; Single-pass membrane protein. Lysosome membrane; Single-pass membrane protein. Expressed in lung, kidney, liver, pancreas, placenta, but not in heart and skeletal muscle. Belongs to the FAM176 family. lysosome lysosomal membrane endoplasmic reticulum endoplasmic reticulum lumen endoplasmic reticulum membrane plasma membrane autophagy apoptotic process membrane integral component of membrane intracellular membrane-bounded organelle post-translational protein modification cellular protein metabolic process uc002snk.1 
ENST00000233735.2 REG1A ENST00000233735.2 Homo sapiens regenerating family member 1 alpha (REG1A), mRNA. (from RefSeq NM_002909) ENST00000233735.1 NM_002909 P05451 P11379 PSPS PSPS1 Q4ZG28 REG REG1A_HUMAN uc002snz.1 uc002snz.2 uc002snz.3 uc002snz.4 This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped into four subclasses, types I, II, III and IV, based on the primary structures of the encoded proteins. This gene encodes a protein that is secreted by the exocrine pancreas. It is associated with islet cell regeneration and diabetogenesis and may be involved in pancreatic lithogenesis. Reg family members REG1B, REGL, PAP and this gene are tandemly clustered on chromosome 2p12 and may have arisen from the same ancestral gene by gene duplication. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: ERR279838.5622.1, AK291981.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233735.2/ ENSP00000233735.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Might act as an inhibitor of spontaneous calcium carbonate precipitation. May be associated with neuronal sprouting in brain, and with brain and pancreas regeneration. Secreted. In pancreatic acinar cells and, in lower levels, in brain. Enhanced expression of PSP-related transcripts and intraneuronal accumulation of PSP-like proteins is found in brain from Alzheimer disease and Down syndrome patients. High expression levels in fetal and infant brains; much lower in adult brains. The composition of the O-linked carbohydrate on Thr-27 is complex and varied. In the crystallographic structure, the attached sugar appears to be N-acetylglucosamine, typical of an intracellular protein, rather than N-acetylgalactosamine. Contains 1 C-type lectin domain. Name=Functional Glycomics Gateway - Glycan Binding; Note=Lithostathine A; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_254"; response to hypoxia transmembrane signaling receptor activity receptor binding extracellular region extracellular space cytosol signal transduction midgut development growth factor activity positive regulation of cell proliferation negative regulation of cell proliferation positive regulation of gene expression response to organic cyclic compound phosphatase binding protein phosphatase binding carbohydrate binding growth cone response to nutrient levels dendrite membrane neuronal cell body membrane macromolecular complex wound healing zymogen granule identical protein binding protein homodimerization activity peptidoglycan binding response to peptide hormone cell wall disruption in other organism basal part of cell perinuclear region of cytoplasm protein homooligomerization protein homotetramerization calcium ion homeostasis extracellular exosome oligosaccharide binding liver regeneration response to acetylsalicylate positive regulation of dendrite extension positive regulation of type B pancreatic cell proliferation positive regulation of acinar cell proliferation response to water-immersion restraint stress pancreas regeneration response to growth hormone-releasing hormone response to gastrin cellular response to chemokine cellular response to gastrin uc002snz.1 uc002snz.2 uc002snz.3 uc002snz.4 
ENST00000233809.9 IGFBP2 ENST00000233809.9 Homo sapiens insulin like growth factor binding protein 2 (IGFBP2), transcript variant 4, mRNA. (from RefSeq NM_001313993) BP2 ENST00000233809.1 ENST00000233809.2 ENST00000233809.3 ENST00000233809.4 ENST00000233809.5 ENST00000233809.6 ENST00000233809.7 ENST00000233809.8 IBP2 IBP2_HUMAN NM_001313993 P18065 Q14619 Q9UCL3 uc061sgd.1 uc061sgd.2 The protein encoded by this gene is one of six similar proteins that bind insulin-like growth factors I and II (IGF-I and IGF-II). The encoded protein can be secreted into the bloodstream, where it binds IGF-I and IGF-II with high affinity, or it can remain intracellular, interacting with many different ligands. High expression levels of this protein promote the growth of several types of tumors and may be predictive of the chances of recovery of the patient. Several transcript variants, one encoding a secreted isoform and the others encoding nonsecreted isoforms, have been found for this gene. [provided by RefSeq, Sep 2015]. Inhibits IGF-mediated growth and developmental rates. IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. Binds IGF2 more than IGF1. Q9C086:INO80B; NbExp=4; IntAct=EBI-2504392, EBI-715611; Secreted. The C-terminus is required for IGF-binding and growth inhibition. O-glycosylated. Contains 1 IGFBP N-terminal domain. Contains 1 thyroglobulin type-1 domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/igfbp2/"; receptor binding protein binding insulin-like growth factor binding extracellular region extracellular space signal transduction female pregnancy aging response to nutrient response to mechanical stimulus response to lithium ion apical plasma membrane growth factor binding cytoplasmic vesicle insulin-like growth factor I binding insulin-like growth factor II binding response to estradiol response to retinoic acid cellular response to hormone stimulus regulation of growth positive regulation of activated T cell proliferation response to drug regulation of insulin-like growth factor receptor signaling pathway response to estrogen cellular protein metabolic process response to steroid hormone response to glucocorticoid extracellular exosome negative regulation of canonical Wnt signaling pathway uc061sgd.1 uc061sgd.2 
ENST00000233813.5 IGFBP5 ENST00000233813.5 Homo sapiens insulin like growth factor binding protein 5 (IGFBP5), mRNA. (from RefSeq NM_000599) ENST00000233813.1 ENST00000233813.2 ENST00000233813.3 ENST00000233813.4 IBP5 IBP5_HUMAN NM_000599 P24593 Q5U0A3 uc002vgj.1 uc002vgj.2 uc002vgj.3 uc002vgj.4 uc002vgj.5 uc002vgj.6 IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. Secreted. Osteosarcoma, and at lower levels in liver, kidney and brain. Contains 1 IGFBP N-terminal domain. Contains 1 thyroglobulin type-1 domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/igfbp5/"; regulation of cell growth osteoblast differentiation fibronectin binding protein binding insulin-like growth factor binding extracellular region extracellular space endoplasmic reticulum lumen signal transduction female pregnancy aging negative regulation of smooth muscle cell migration insulin-like growth factor binding protein complex negative regulation of translation growth factor binding negative regulation of cell migration hair follicle morphogenesis insulin-like growth factor I binding insulin-like growth factor II binding intracellular signal transduction regulation of growth insulin-like growth factor ternary complex glucose homeostasis regulation of insulin-like growth factor receptor signaling pathway positive regulation of insulin-like growth factor receptor signaling pathway negative regulation of insulin-like growth factor receptor signaling pathway post-translational protein modification cellular protein metabolic process type B pancreatic cell proliferation negative regulation of osteoblast differentiation negative regulation of growth lung alveolus development negative regulation of smooth muscle cell proliferation striated muscle cell differentiation positive regulation of protein kinase B signaling mammary gland involution response to growth hormone cellular response to cAMP cellular response to organic cyclic compound negative regulation of muscle tissue development negative regulation of skeletal muscle hypertrophy positive regulation of vascular smooth muscle cell proliferation positive regulation of vascular associated smooth muscle cell migration uc002vgj.1 uc002vgj.2 uc002vgj.3 uc002vgj.4 uc002vgj.5 uc002vgj.6 
ENST00000233826.4 KCNJ13 ENST00000233826.4 Homo sapiens potassium inwardly rectifying channel subfamily J member 13 (KCNJ13), transcript variant 1, mRNA. (from RefSeq NM_002242) A0PGH1 ENST00000233826.1 ENST00000233826.2 ENST00000233826.3 IRK13_HUMAN NM_002242 O60928 O76023 Q53SA1 Q8N3Y4 uc002vtp.1 uc002vtp.2 uc002vtp.3 uc002vtp.4 uc002vtp.5 This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ13 has a very low single channel conductance, low sensitivity to block by external barium and cesium, and no dependence of its inward rectification properties on the internal blocking particle magnesium. Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O60928-1; Sequence=Displayed; Name=2; Synonyms=Kir7.1S; IsoId=O60928-2; Sequence=VSP_042627, VSP_042628; Predominantly expressed in small intestine. Expression is also detected in stomach, kidney, and all central nervous system regions tested with the exception of spinal cord. Phosphorylation at Ser-201 by PKC strongly inhibits ionic currents, while phosphorylation at Ser-287 by PKA increases them. Defects in KCNJ13 are the cause of snowflake vitreoretinal degeneration (SVD) [MIM:193230]. SVD is a developmental and progressive hereditary eye disorder that affects multiple tissues within the eye. Diagnostic features of SVD include fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment. Defects in KCNJ13 are the cause of Leber congenital amaurosis type 16 (LCA16) [MIM:614186]. LCA16 is a severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ13 subfamily. inward rectifier potassium channel activity voltage-gated ion channel activity ion transport potassium ion transport membrane integral component of membrane regulation of ion transmembrane transport potassium ion import across plasma membrane uc002vtp.1 uc002vtp.2 uc002vtp.3 uc002vtp.4 uc002vtp.5 
ENST00000233838.9 GGCX ENST00000233838.9 Homo sapiens gamma-glutamyl carboxylase (GGCX), transcript variant 1, mRNA. (from RefSeq NM_000821) ENST00000233838.1 ENST00000233838.2 ENST00000233838.3 ENST00000233838.4 ENST00000233838.5 ENST00000233838.6 ENST00000233838.7 ENST00000233838.8 GC NM_000821 P38435 Q14415 Q6GU45 VKGC_HUMAN uc002sps.1 uc002sps.2 uc002sps.3 uc002sps.4 uc002sps.5 This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]. Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-binding gamma-carboxyglutamate (Gla) residues with the concomitant conversion of the reduced hydroquinone form of vitamin K to vitamin K epoxide. [Peptidyl]-4-carboxyglutamate + 2,3- epoxyphylloquinone + H(2)O = [peptidyl]-glutamate + CO(2) + O(2) + phylloquinone. pH dependence: Optimum pH is 7; Monomer. May interact with CALU (By similarity). Endoplasmic reticulum membrane; Multi-pass membrane protein. Defects in GGCX are a cause of combined deficiency of vitamin K-dependent clotting factors type 1 (VKCFD1) [MIM:277450]; also known as multiple coagulation factor deficiency III (MCFD3). VKCFD leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Defects in GGCX are the cause of pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842]. This syndrome is characterized by hyperlaxity of the skin involving the entire body. Important phenotypic differences with classical PXE include much more severe skin laxity with spreading toward the trunk and limbs with thick, leathery skin folds rather than confinement to flexural areas, and no decrease in visual acuity. Moreover, detailed electron microscopic analyzes revealed that alterations of elastic fibers as well as their mineralization are slightly different from those in classic PXE. The vitamin K-dependent protein substrates of carboxylase have usually a propeptide that binds to a high- affinity site on the carboxylase. CO(2), O(2) and reduced vitamin K are cosubstrates. Belongs to the vitamin K-dependent gamma-carboxylase family. endoplasmic reticulum endoplasmic reticulum membrane cellular protein modification process blood coagulation gamma-glutamyl carboxylase activity membrane integral component of membrane lyase activity peptidyl-glutamic acid carboxylation uc002sps.1 uc002sps.2 uc002sps.3 uc002sps.4 uc002sps.5 
ENST00000233840.3 NEU2 ENST00000233840.3 Homo sapiens neuraminidase 2 (NEU2), mRNA. (from RefSeq NM_005383) ENST00000233840.1 ENST00000233840.2 NEUR2_HUMAN NM_005383 Q3KNW4 Q6NTB4 Q9Y3R4 uc010zmn.1 uc010zmn.2 This gene belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. Expression studies in COS7 cells confirmed that this gene encodes a functional sialidase. Its cytosolic localization was demonstrated by cell fractionation experiments. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC069151.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145743, SAMEA2145893 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233840.3/ ENSP00000233840.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Hydrolyzes sialylated compounds. Hydrolysis of alpha-(2->3)-, alpha-(2->6)-, alpha-(2->8)- glycosidic linkages of terminal sialic acid residues in oligosaccharides, glycoproteins, glycolipids, colominic acid and synthetic substrates. Cytoplasm (By similarity). Expressed in skeletal muscle, fetal liver and embryonic carcinoma cell line NT2-D1. Belongs to the glycosyl hydrolase 33 family. Contains 2 BNR repeats. exo-alpha-sialidase activity protein binding cytoplasm lysosome cytosol carbohydrate metabolic process lipid metabolic process glycosphingolipid metabolic process ganglioside catabolic process metabolic process oligosaccharide catabolic process membrane lipid catabolic process hydrolase activity hydrolase activity, acting on glycosyl bonds intracellular membrane-bounded organelle cellular oligosaccharide catabolic process exo-alpha-(2->3)-sialidase activity exo-alpha-(2->6)-sialidase activity exo-alpha-(2->8)-sialidase activity catalytic complex uc010zmn.1 uc010zmn.2 
ENST00000233893.10 HSPE1 ENST00000233893.10 Homo sapiens heat shock protein family E (Hsp10) member 1 (HSPE1), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_002157) CH10_HUMAN ENST00000233893.1 ENST00000233893.2 ENST00000233893.3 ENST00000233893.4 ENST00000233893.5 ENST00000233893.6 ENST00000233893.7 ENST00000233893.8 ENST00000233893.9 NM_002157 O95421 P61604 Q04984 Q53X54 Q9UDH0 uc002uul.1 uc002uul.2 uc002uul.3 uc002uul.4 uc002uul.5 This gene encodes a major heat shock protein which functions as a chaperonin. Its structure consists of a heptameric ring which binds to another heat shock protein in order to form a symmetric, functional heterodimer which enhances protein folding in an ATP-dependent manner. This gene and its co-chaperonin, HSPD1, are arranged in a head-to-head orientation on chromosome 2. Naturally occurring read-through transcription occurs between this locus and the neighboring locus MOBKL3.[provided by RefSeq, Feb 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.102397.1, SRR1163655.433354.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: inferred from homology MANE Ensembl match :: ENST00000233893.10/ ENSP00000233893.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Eukaryotic CPN10 homolog which is essential for mitochondrial protein biogenesis, together with CPN60. Binds to CPN60 in the presence of Mg-ATP and suppresses the ATPase activity of the latter. Homohexamer. P49789:FHIT; NbExp=4; IntAct=EBI-711483, EBI-741760; Mitochondrion matrix. By stress. Mass=10843.5; Mass_error=0.2; Method=Electrospray; Range=2-102; Source=PubMed:7912672; Belongs to the GroES chaperonin family. osteoblast differentiation RNA binding protein binding ATP binding mitochondrion mitochondrial matrix protein folding activation of cysteine-type endopeptidase activity involved in apoptotic process response to unfolded protein membrane metal ion binding unfolded protein binding chaperone mediated protein folding requiring cofactor chaperone binding extracellular exosome uc002uul.1 uc002uul.2 uc002uul.3 uc002uul.4 uc002uul.5 
ENST00000233948.4 WNT6 ENST00000233948.4 Homo sapiens Wnt family member 6 (WNT6), mRNA. (from RefSeq NM_006522) ENST00000233948.1 ENST00000233948.2 ENST00000233948.3 NM_006522 Q9H1J6 Q9H238 Q9Y6F9 WNT6_HUMAN uc002vjc.1 uc002vjc.2 uc002vjc.3 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is overexpressed in cervical cancer cell line and strongly coexpressed with another family member, WNT10A, in colorectal cancer cell line. The gene overexpression may play key roles in carcinogenesis. This gene and the WNT10A gene are clustered in the chromosome 2q35 region. The protein encoded by this gene is 97% identical to the mouse Wnt6 protein at the amino acid level. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY009401.1, AK075522.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142853 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233948.4/ ENSP00000233948.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters. Interacts with PORCN (By similarity). Secreted, extracellular space, extracellular matrix. Palmitoylation at Ser-228 is required for efficient binding to frizzled receptors. It is also required for subsequent palmitoylation at Cys-76. Palmitoylation is necessary for proper trafficking to cell surface (By similarity). Belongs to the Wnt family. branching involved in ureteric bud morphogenesis receptor binding frizzled binding extracellular region extracellular space endoplasmic reticulum lumen Golgi lumen plasma membrane multicellular organism development axis specification cell surface positive regulation of gene expression Wnt signaling pathway neuron differentiation endocytic vesicle membrane extracellular matrix odontogenesis of dentin-containing tooth cell fate commitment positive regulation of transcription, DNA-templated epithelial-mesenchymal cell signaling cornea development in camera-type eye extracellular exosome positive regulation of tooth mineralization cellular response to retinoic acid nephron tubule formation nephron tubule development uc002vjc.1 uc002vjc.2 uc002vjc.3 
ENST00000233954.6 IL1RL1 ENST00000233954.6 Homo sapiens interleukin 1 receptor like 1 (IL1RL1), transcript variant 1, mRNA. (from RefSeq NM_016232) A8K6B3 DER4 ENST00000233954.1 ENST00000233954.2 ENST00000233954.3 ENST00000233954.4 ENST00000233954.5 ILRL1_HUMAN NM_016232 Q01638 Q53TU7 Q8NEJ3 Q9ULV7 Q9UQ44 ST2 T1 uc002tbu.1 uc002tbu.2 The protein encoded by this gene is a member of the interleukin 1 receptor family. Studies of the similar gene in mouse suggested that this receptor can be induced by proinflammatory stimuli, and may be involved in the function of helper T cells. This gene, interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2) and interleukin 1 receptor-like 2 (IL1RL2) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]. Receptor for interleukin-33 (IL-33), its stimulation recruits MYD88, IRAK1, IRAK4, and TRAF6, followed by phosphorylation of MAPK3/ERK1 and/or MAPK1/ERK2, MAPK14, and MAPK8. Possibly involved in helper T-cell function. Interacts with MYD88, IRAK1, IRAK4, and TRAF6. O95760:IL33; NbExp=2; IntAct=EBI-993762, EBI-724057; Isoform C: Cell membrane. Isoform B: Secreted. Cell membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=3; Name=A; Synonyms=ST2L; IsoId=Q01638-1; Sequence=Displayed; Name=B; Synonyms=ST2S; IsoId=Q01638-2; Sequence=VSP_002666, VSP_002667; Name=C; Synonyms=ST2V; IsoId=Q01638-3; Sequence=VSP_002664, VSP_002665; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Highly expressed in kidney, lung, placenta, stomach, skeletal muscle, colon and small intestine. Isoform A is prevalently expressed in the lung, testis, placenta, stomach and colon. Isoform B is more abundant in the brain, kidney and the liver. Isoform C is not detected in brain, heart, liver, kidney and skeletal muscle. Belongs to the interleukin-1 receptor family. Contains 3 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 TIR domain. interleukin-33 binding interleukin-33 receptor activity negative regulation of T-helper 1 type immune response cytokine receptor activity interleukin-1 receptor activity protein binding extracellular region plasma membrane immune response signal transduction external side of plasma membrane membrane integral component of membrane negative regulation of interferon-gamma production positive regulation of interleukin-5 production interleukin-33-mediated signaling pathway positive regulation of macrophage activation positive regulation of inflammatory response positive regulation of chemokine secretion uc002tbu.1 uc002tbu.2 
ENST00000233957.7 IL18R1 ENST00000233957.7 Homo sapiens interleukin 18 receptor 1 (IL18R1), transcript variant 1, mRNA. (from RefSeq NM_003855) B2R9Y5 ENST00000233957.1 ENST00000233957.2 ENST00000233957.3 ENST00000233957.4 ENST00000233957.5 ENST00000233957.6 IL18R_HUMAN IL1RRP NM_003855 Q13478 Q52LC9 uc010fiy.1 uc010fiy.2 uc010fiy.3 uc010fiy.4 uc010fiy.5 uc010fiy.6 The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This receptor specifically binds interleukin 18 (IL18), and is essential for IL18 mediated signal transduction. IFN-alpha and IL12 are reported to induce the expression of this receptor in NK and T cells. This gene along with four other members of the interleukin 1 receptor family, including IL1R2, IL1R1, ILRL2 (IL-1Rrp2), and IL1RL1 (T1/ST2), form a gene cluster on chromosome 2q. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DRR138517.888460.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Receptor for interleukin 18 (IL-18). Binding to the agonist leads to the activation of NF-kappa-B. Does not bind IL1A/interleukin-1 alpha or IL1B/interleukin-1 beta. Membrane; Single-pass type I membrane protein. Expressed in lung, leukocytes, spleen, liver, thymus, prostate, small intestine, colon, placenta, and heart, and is absent from brain, skeletal muscle, pancreas, and kidney. High level of expression in Hodgkin disease cell lines. Belongs to the interleukin-1 receptor family. Contains 3 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 TIR domain. interleukin-1 receptor activity protein binding plasma membrane inflammatory response immune response signal transduction membrane integral component of membrane natural killer cell activation positive regulation of interferon-gamma production interleukin-18-mediated signaling pathway signaling receptor activity interleukin-18 binding interleukin-18 receptor activity T-helper 1 cell differentiation interleukin-18 receptor complex positive regulation of NF-kappaB transcription factor activity cellular response to cytokine stimulus positive regulation of NIK/NF-kappaB signaling positive regulation of T-helper 1 cell cytokine production uc010fiy.1 uc010fiy.2 uc010fiy.3 uc010fiy.4 uc010fiy.5 uc010fiy.6 
ENST00000233969.3 SLC9A2 ENST00000233969.3 Homo sapiens solute carrier family 9 member A2 (SLC9A2), mRNA. (from RefSeq NM_003048) B2RMS2 ENST00000233969.1 ENST00000233969.2 NHE2 NM_003048 Q9UBY0 SL9A2_HUMAN uc002tca.1 uc002tca.2 uc002tca.3 uc002tca.4 uc002tca.5 This gene encodes a member of the sodium-hydrogen exchanger (NHE) protein family. These proteins are involved in sodium-ion transport by exchanging intracellular hydrogen ions to external sodium ions and help in the regulation of cell pH and volume. The encoded protein is localized to the apical membrane and is involved in apical absorption of sodium. [provided by RefSeq, Jun 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.84593.1, SRR1803614.213018.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968832 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233969.3/ ENSP00000233969.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Seems to play an important role in colonic sodium absorption. Interacts with CHP1 and CHP2 (By similarity). Membrane; Multi-pass membrane protein. Expressed in skeletal muscle, colon and kidney. Lower levels in the testis, prostate, ovary, and small intestine. Phosphorylated (Possible). Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. The number, localization and denomination of hydrophobic domains in the Na(+)/H(+) exchangers vary among authors. plasma membrane ion transport cation transport sodium ion transport regulation of pH protein localization antiporter activity solute:proton antiporter activity sodium:proton antiporter activity potassium:proton antiporter activity membrane integral component of membrane regulation of intracellular pH transmembrane transport potassium ion transmembrane transport anion transmembrane transport sodium ion import across plasma membrane hydrogen ion transmembrane transport uc002tca.1 uc002tca.2 uc002tca.3 uc002tca.4 uc002tca.5 
ENST00000233997.4 AZU1 ENST00000233997.4 Homo sapiens azurocidin 1 (AZU1), mRNA. (from RefSeq NM_001700) CAP7_HUMAN ENST00000233997.1 ENST00000233997.2 ENST00000233997.3 NM_001700 P20160 P80014 Q52LG4 Q9UCM1 Q9UCT5 uc002lpz.1 uc002lpz.2 uc002lpz.3 Azurophil granules, specialized lysosomes of the neutrophil, contain at least 10 proteins implicated in the killing of microorganisms. This gene encodes a preproprotein that is proteolytically processed to generate a mature azurophil granule antibiotic protein, with monocyte chemotactic and antimicrobial activity. It is also an important multifunctional inflammatory mediator. This encoded protein is a member of the serine protease gene family but it is not a serine proteinase, because the active site serine and histidine residues are replaced. The genes encoding this protein, neutrophil elastase 2, and proteinase 3 are in a cluster located at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. [provided by RefSeq, Nov 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X58794.1, ERR279847.7758.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145893, SAMEA2146236 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233997.4/ ENSP00000233997.1 Protein has antimicrobial activity :: PMID: 11994286 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## This is a neutrophil granule-derived antibacterial and monocyte- and fibroblast-specific chemotactic glycoprotein. Binds heparin. The cytotoxic action is limited to many species of Gram- negative bacteria; this specificity may be explained by a strong affinity of the very basic N-terminal half for the negatively charged lipopolysaccharides that are unique to the Gram-negative bacterial outer envelope. It may play a role in mediating recruitment of monocytes in the second wave of inflammation. Has antibacterial activity against the Gram-nagative bacterium P.aeruginosa, this activity is inhibited by LPS from P.aeruginosa. Acting alone, it does not have antimicrobial activity against the Gram-negative bacteria A.actinomycetemcomitans ATCC 29532, A.actinomycetemcomitans NCTC 9709, A.actinomycetemcomitans FDC-Y4, H.aphrophilus ATCC 13252, E.corrodens ATCC 23834, C.sputigena ATCC 33123, Capnocytophaga sp ATCC 33124, Capnocytophaga sp ATCC 27872 or E.coli ML-35. Has antibacterial activity against C.sputigena ATCC 33123 when acting synergistically with either elastase or cathepsin G. Monomer. Cytoplasmic granule. Note=Cytoplasmic granules of neutrophils. Belongs to the peptidase S1 family. Elastase subfamily. Contains 1 peptidase S1 domain. microglial cell activation serine-type endopeptidase activity protein binding extracellular region extracellular space proteolysis chemotaxis inflammatory response protein kinase C-activating G-protein coupled receptor signaling pathway heparin binding peptidase activity glial cell migration positive regulation of gene expression positive regulation of peptidyl-threonine phosphorylation toxic substance binding membrane antimicrobial humoral response extrinsic component of membrane azurophil granule membrane azurophil granule lumen calcium-mediated signaling using intracellular calcium source monocyte activation positive regulation of tumor necrosis factor biosynthetic process azurophil granule defense response to bacterium negative regulation of apoptotic process regulation of vascular permeability neutrophil degranulation heparan sulfate proteoglycan binding cellular extravasation positive regulation of MHC class II biosynthetic process positive regulation of cell adhesion positive regulation of protein kinase activity macrophage chemotaxis positive regulation of interleukin-1 beta biosynthetic process positive regulation of fractalkine biosynthetic process positive regulation of phagocytosis defense response to Gram-negative bacterium induction of positive chemotaxis defense response to virus cell chemotaxis extracellular exosome protein kinase C signaling neutrophil mediated killing of bacterium uc002lpz.1 uc002lpz.2 uc002lpz.3 
ENST00000234071.8 PROC ENST00000234071.8 Homo sapiens protein C, inactivator of coagulation factors Va and VIIIa (PROC), transcript variant 12, mRNA. (from RefSeq NM_001375613) ENST00000234071.1 ENST00000234071.2 ENST00000234071.3 ENST00000234071.4 ENST00000234071.5 ENST00000234071.6 ENST00000234071.7 NM_001375613 P04070 PROC_HUMAN Q15189 Q15190 Q16001 Q53S74 Q9UC55 uc002tok.1 uc002tok.2 uc002tok.3 uc002tok.4 uc002tok.5 This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009]. Protein C is a vitamin K-dependent serine protease that regulates blood coagulation by inactivating factors Va and VIIIa in the presence of calcium ions and phospholipids. Degradation of blood coagulation factors Va and VIIIa. Synthesized as a single chain precursor, which is cleaved into a light chain and a heavy chain held together by a disulfide bond. The enzyme is then activated by thrombin, which cleaves a tetradecapeptide from the amino end of the heavy chain; this reaction, which occurs at the surface of endothelial cells, is strongly promoted by thrombomodulin. P51511:MMP15; NbExp=2; IntAct=EBI-1383018, EBI-1383043; Plasma; synthesized in the liver. The vitamin K-dependent, enzymatic carboxylation of some Glu residues allows the modified protein to bind calcium. N- and O-glycosylated. Partial (70%) N-glycosylation of Asn- 371 with an atypical N-X-C site produces a higher molecular weight form referred to as alpha. The lower molecular weight form, not N- glycosylated at Asn-371, is beta. O-glycosylated with core 1 or possibly core 8 glycans. The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains. May be phosphorylated on a Ser or Thr in a region (AA 25-30) of the propeptide. Defects in PROC are the cause of thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]. A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic. Individuals with decreased amounts of protein C are classically referred to as having type I protein C deficiency and those with normal amounts of a functionally defective protein as having type II deficiency. Defects in PROC are the cause of thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]. A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. It results in a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia. The severe form leads to neonatal death through massive neonatal venous thrombosis. Often associated with ecchymotic skin lesions which can turn necrotic called purpura fulminans, this disorder is very rare. Calcium also binds, with stronger affinity to another site, beyond the GLA domain. This GLA-independent binding site is necessary for the recognition of the thrombin- thrombomodulin complex. Belongs to the peptidase S1 family. Contains 2 EGF-like domains. Contains 1 Gla (gamma-carboxy-glutamate) domain. Contains 1 peptidase S1 domain. Sequence=S76088; Type=Erroneous termination; Positions=151; Note=Translated as Cys; Name=Wikipedia; Note=Protein C entry; URL="http://en.wikipedia.org/wiki/Protein_C"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PROC"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/proc/"; serine-type endopeptidase activity calcium ion binding protein binding extracellular region extracellular space endoplasmic reticulum endoplasmic reticulum lumen Golgi apparatus Golgi lumen proteolysis ER to Golgi vesicle-mediated transport blood coagulation hemostasis peptidase activity serine-type peptidase activity hydrolase activity negative regulation of blood coagulation negative regulation of apoptotic process post-translational protein modification cellular protein metabolic process negative regulation of inflammatory response negative regulation of coagulation positive regulation of establishment of endothelial barrier uc002tok.1 uc002tok.2 uc002tok.3 uc002tok.4 uc002tok.5 
ENST00000234091.8 ID2 ENST00000234091.8 Contains 1 basic helix-loop-helix (bHLH) domain. (from UniProt Q53T66) ENST00000234091.1 ENST00000234091.2 ENST00000234091.3 ENST00000234091.4 ENST00000234091.5 ENST00000234091.6 ENST00000234091.7 GIG8 LQ270680 Q53T66 Q53T66_HUMAN hCG_1784377 uc002qza.1 uc002qza.2 uc002qza.3 uc002qza.4 Contains 1 basic helix-loop-helix (bHLH) domain. negative regulation of transcription from RNA polymerase II promoter metanephros development natural killer cell differentiation thigmotaxis leukocyte differentiation membranous septum morphogenesis bundle of His development nucleus cytoplasm heart development circadian rhythm adult locomotory behavior entrainment of circadian clock positive regulation of gene expression negative regulation of gene expression oligodendrocyte development regulation of lipid metabolic process olfactory bulb development circadian regulation of gene expression macromolecular complex mammary gland epithelial cell proliferation regulation of circadian rhythm entrainment of circadian clock by photoperiod enucleate erythrocyte differentiation negative regulation of DNA binding locomotor rhythm negative regulation of B cell differentiation positive regulation of fat cell differentiation positive regulation of erythrocyte differentiation positive regulation of macrophage differentiation negative regulation of neuron differentiation negative regulation of osteoblast differentiation positive regulation of blood pressure negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated protein dimerization activity cell development cell maturation Peyer's patch development embryonic digestive tract morphogenesis positive regulation of smooth muscle cell proliferation neuron fate commitment cell morphogenesis involved in neuron differentiation positive regulation of astrocyte differentiation negative regulation of oligodendrocyte differentiation adipose tissue development mammary gland alveolus development epithelial cell differentiation involved in mammary gland alveolus development endodermal digestive tract morphogenesis positive regulation of cell cycle arrest cellular response to lithium ion cellular senescence negative regulation of neural precursor cell proliferation uc002qza.1 uc002qza.2 uc002qza.3 uc002qza.4 
ENST00000234111.9 ODC1 ENST00000234111.9 Homo sapiens ornithine decarboxylase 1 (ODC1), transcript variant 1, mRNA. (from RefSeq NM_002539) DCOR_HUMAN ENST00000234111.1 ENST00000234111.2 ENST00000234111.3 ENST00000234111.4 ENST00000234111.5 ENST00000234111.6 ENST00000234111.7 ENST00000234111.8 NM_002539 P11926 Q53TU3 Q6LDS9 uc002rao.1 uc002rao.2 uc002rao.3 uc002rao.4 This gene encodes the rate-limiting enzyme of the polyamine biosynthesis pathway which catalyzes ornithine to putrescine. The activity level for the enzyme varies in response to growth-promoting stimuli and exhibits a high turnover rate in comparison to other mammalian proteins. Originally localized to both chromosomes 2 and 7, the gene encoding this enzyme has been determined to be located on 2p25, with a pseudogene located on 7q31-qter. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2013]. L-ornithine = putrescine + CO(2). Pyridoxal phosphate. Inhibited by S-nitrosylation. Amine and polyamine biosynthesis; putrescine biosynthesis via L-ornithine pathway; putrescine from L-ornithine: step 1/1. Homodimer. O95190:OAZ2; NbExp=1; IntAct=EBI-1044287, EBI-1051861; Down-regulated in response to enterovirus 71 (EV71) infection (at protein level). S-Nitrosylation inhibits the enzyme. S-Nitrosylated in vitro on 4 cysteine residues. Belongs to the Orn/Lys/Arg decarboxylase class-II family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/odc1/"; Name=Wikipedia; Note=Ornithine decarboxylase entry; URL="http://en.wikipedia.org/wiki/Ornithine_decarboxylase"; kidney development catalytic activity ornithine decarboxylase activity protein binding cellular_component cytoplasm cytosol regulation of cellular amino acid metabolic process polyamine metabolic process polyamine biosynthetic process positive regulation of cell proliferation putrescine biosynthetic process response to virus lyase activity carboxy-lyase activity putrescine biosynthetic process from ornithine regulation of protein catabolic process protein homodimerization activity perinuclear region of cytoplasm uc002rao.1 uc002rao.2 uc002rao.3 uc002rao.4 
ENST00000234115.10 PLEKHB2 ENST00000234115.10 Homo sapiens pleckstrin homology domain containing B2 (PLEKHB2), transcript variant 2, mRNA. (from RefSeq NM_017958) ENST00000234115.1 ENST00000234115.2 ENST00000234115.3 ENST00000234115.4 ENST00000234115.5 ENST00000234115.6 ENST00000234115.7 ENST00000234115.8 ENST00000234115.9 EVT2 NM_017958 PKHB2_HUMAN Q53FF1 Q53TH7 Q86W37 Q96CS7 Q9BV75 Q9NWK1 uc002tsj.1 uc002tsj.2 uc002tsj.3 uc002tsj.4 uc002tsj.5 Involved in retrograde transport of recycling endosomes. Recycling endosome membrane; Peripheral membrane protein. Note=Specifically detected in tubulovesicular structures, and colocalizes with TFNR. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96CS7-1; Sequence=Displayed; Name=2; IsoId=Q96CS7-2; Sequence=VSP_009783; Note=No experimental confirmation available; Name=3; IsoId=Q96CS7-3; Sequence=VSP_009784; Note=No experimental confirmation available; The PH domain specifically binds phosphatidylserine, which is enriched in recycling endosome membranes, it doesn't recognize PIPs. Contains 1 PH domain. protein binding phosphatidylinositol-3,4,5-trisphosphate binding endosome membrane integral component of membrane regulation of cell differentiation recycling endosome membrane uc002tsj.1 uc002tsj.2 uc002tsj.3 uc002tsj.4 uc002tsj.5 
ENST00000234160.5 GORASP2 ENST00000234160.5 Homo sapiens golgi reassembly stacking protein 2 (GORASP2), transcript variant 1, mRNA. (from RefSeq NM_015530) ENST00000234160.1 ENST00000234160.2 ENST00000234160.3 ENST00000234160.4 GOLPH6 GORS2_HUMAN NM_015530 Q53TE3 Q96I74 Q96K84 Q9H8Y8 Q9H946 Q9UFW4 uc002ugk.1 uc002ugk.2 uc002ugk.3 uc002ugk.4 uc002ugk.5 This gene encodes a member of the Golgi reassembly stacking protein family. These proteins may play a role in the stacking of Golgi cisternae and Golgi ribbon formation, as well as Golgi fragmentation during apoptosis or mitosis. The encoded protein also plays a role in the intracellular transport of transforming growth factor alpha and may function as a molecular chaperone. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]. Plays a role in the assembly and membrane stacking of the Golgi cisternae, and in the process by which Golgi stacks reform after mitotic breakdown. May regulate the intracellular transport and presentation of a defined set of transmembrane proteins, such as transmembrane TGFA. Forms a RAB2 effector complex with BLZF1/Golgin 45 in the medial Golgi. Interacts with members of the p24 cargo receptors. Interacts with CNIH and the cytoplasmic domain of transmembrane TGFA, prior its transit in the trans-Golgi. Does not interact with GM130. Interacts with KCTD5. Interacts with TMED2 and TMED3 (By similarity). P13569:CFTR; NbExp=3; IntAct=EBI-739467, EBI-349854; Golgi apparatus membrane; Lipid-anchor. Membrane; Peripheral membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H8Y8-1; Sequence=Displayed; Name=2; IsoId=Q9H8Y8-2; Sequence=VSP_011300; Myristoylated. Myristoylation is essential for the Golgi targeting (By similarity). Palmitoylated. Phosphorylated in mitotic cells. Belongs to the GORASP family. Contains 1 PDZ (DHR) domain. Golgi membrane protein binding endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus organelle organization Golgi organization spermatogenesis membrane cell differentiation response to endoplasmic reticulum stress organelle assembly uc002ugk.1 uc002ugk.2 uc002ugk.3 uc002ugk.4 uc002ugk.5 
ENST00000234170.10 CEBPZ ENST00000234170.10 Homo sapiens CCAAT enhancer binding protein zeta (CEBPZ), mRNA. (from RefSeq NM_005760) CBF2 CEBPZ_HUMAN ENST00000234170.1 ENST00000234170.2 ENST00000234170.3 ENST00000234170.4 ENST00000234170.5 ENST00000234170.6 ENST00000234170.7 ENST00000234170.8 ENST00000234170.9 NM_005760 Q03701 Q8NE75 uc002rpz.1 uc002rpz.2 uc002rpz.3 uc002rpz.4 uc002rpz.5 uc002rpz.6 This gene belongs to the CEBP family. The encoded protein plays a role in cellular response to environmental stimuli through a transcriptional process that involves heat shock factors, conserved DNA elements (heat shock elements or HSEs) and CCAAT boxes. The protein acts as a DNA-binding transcriptional activator and regulates the heat-shock protein 70 (HSP70) promoter in a CCAAT-dependent manner. The protein is also involved in cell growth and differentiation, particularly, hematopoietic differentiation. Methylation of the promoter of this gene or mutations within the gene may be correlated with occurance of acute myeloid leukemia (AML). [provided by RefSeq, Jun 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660807.201620.1, SRR1660803.53522.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000234170.10/ ENSP00000234170.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Stimulates transcription from the HSP70 promoter. Nucleus. Belongs to the CBF/MAK21 family. Sequence=AAA51924.1; Type=Frameshift; Positions=998; RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding RNA binding nucleus transcription from RNA polymerase II promoter ribosome biogenesis positive regulation of transcription from RNA polymerase II promoter uc002rpz.1 uc002rpz.2 uc002rpz.3 uc002rpz.4 uc002rpz.5 uc002rpz.6 
ENST00000234179.8 PRKD3 ENST00000234179.8 Homo sapiens protein kinase D3 (PRKD3), mRNA. (from RefSeq NM_005813) D6W587 ENST00000234179.1 ENST00000234179.2 ENST00000234179.3 ENST00000234179.4 ENST00000234179.5 ENST00000234179.6 ENST00000234179.7 EPK2 KPCD3_HUMAN NM_005813 O94806 PRKCN Q53TR7 Q8NEL8 uc061iee.1 uc061iee.2 uc061iee.3 This gene belongs to the multigene protein kinase D family of serine/threonine kinases, which bind diacylglycerol and phorbol esters. Members of this family are characterized by an N-terminal regulatory domain comprised of a tandem repeat of cysteine-rich zinc-finger motifs and a pleckstrin domain. The C-terminal region contains the catalytic domain and is distantly related to calcium-regulated kinases. Catalytic activity of this enzyme promotes its nuclear localization. This protein has been implicated in a variety of functions including negative regulation of human airway epithelial barrier formation, growth regulation of breast and prostate cancer cells, and vesicle trafficking. [provided by RefSeq, Jan 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.77122.1, SRR1803615.162147.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## Converts transient diacylglycerol (DAG) signals into prolonged physiological effects, downstream of PKC. Involved in resistance to oxidative stress (By similarity). ATP + a protein = ADP + a phosphoprotein. Magnesium (By similarity). Activated by DAG and phorbol esters. Phorbol- ester/DAG-type domains 1 and 2 bind both DAG and phorbol ester with high affinity and mediate translocation to the cell membrane. Autophosphorylation of Ser-735 and phosphorylation of Ser-731 by PKC relieves auto-inhibition by the PH domain. P63027:VAMP2; NbExp=7; IntAct=EBI-1255366, EBI-520113; Cytoplasm. Membrane. Note=Translocation to the cell membrane is required for kinase activation. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O94806-1; Sequence=Displayed; Name=2; IsoId=O94806-2; Sequence=VSP_029405, VSP_029406; Ubiquitous. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. PKD subfamily. Contains 1 PH domain. Contains 2 phorbol-ester/DAG-type zinc fingers. Contains 1 protein kinase domain. nucleotide binding protein kinase activity protein serine/threonine kinase activity protein kinase C activity protein binding ATP binding nucleoplasm cytoplasm cytosol protein phosphorylation protein kinase C-activating G-protein coupled receptor signaling pathway membrane kinase activity phosphorylation transferase activity sphingolipid biosynthetic process intracellular signal transduction metal ion binding protein kinase D signaling uc061iee.1 uc061iee.2 uc061iee.3 
ENST00000234198.9 DLX2 ENST00000234198.9 Homo sapiens distal-less homeobox 2 (DLX2), mRNA. (from RefSeq NM_004405) ENST00000234198.1 ENST00000234198.2 ENST00000234198.3 ENST00000234198.4 ENST00000234198.5 ENST00000234198.6 ENST00000234198.7 ENST00000234198.8 NM_004405 X5D7D8 uc002uhn.1 uc002uhn.2 uc002uhn.3 uc002uhn.4 uc002uhn.5 Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 2. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK291367.1, BC032558.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2144120, SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000234198.9/ ENSP00000234198.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## uc002uhn.1 uc002uhn.2 uc002uhn.3 uc002uhn.4 uc002uhn.5 
ENST00000234256.4 SLC1A4 ENST00000234256.4 Homo sapiens solute carrier family 1 member 4 (SLC1A4), transcript variant 1, mRNA. (from RefSeq NM_003038) ASCT1 B7Z3C0 D6W5F0 ENST00000234256.1 ENST00000234256.2 ENST00000234256.3 NM_003038 P43007 SATT SATT_HUMAN uc010yqa.1 uc010yqa.2 uc010yqa.3 uc010yqa.4 The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by RefSeq, Jan 2017]. Transporter for alanine, serine, cysteine, and threonine. Exhibits sodium dependence. Membrane; Multi-pass membrane protein. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P43007-1; Sequence=Displayed; Name=2; IsoId=P43007-2; Sequence=VSP_042880, VSP_042881; Note=No experimental confirmation available; Expressed mostly in brain, muscle, and pancreas but detected in all tissues examined. Belongs to the sodium:dicarboxylate (SDF) symporter (TC 2.A.23) family. SLC1A4 subfamily. amino acid transmembrane transport chloride channel activity centrosome microtubule organizing center intermediate filament plasma membrane integral component of plasma membrane amino acid transport glutamine transport cell surface amino acid transmembrane transporter activity neutral amino acid transmembrane transporter activity L-alanine transmembrane transporter activity L-cystine transmembrane transporter activity L-glutamine transmembrane transporter activity L-proline transmembrane transporter activity L-serine transmembrane transporter activity L-threonine transmembrane transporter activity symporter activity L-alanine transport L-cystine transport proline transport L-serine transport threonine transport membrane integral component of membrane dendrite hydroxyproline transport L-hydroxyproline transmembrane transporter activity synaptic transmission, glutamatergic proline transmembrane transport melanosome neuronal cell body cognition transmembrane transport extracellular exosome chloride transmembrane transport uc010yqa.1 uc010yqa.2 uc010yqa.3 uc010yqa.4 
ENST00000234296.7 ORC2 ENST00000234296.7 Homo sapiens origin recognition complex subunit 2 (ORC2), transcript variant 2, non-coding RNA. (from RefSeq NR_033915) ENST00000234296.1 ENST00000234296.2 ENST00000234296.3 ENST00000234296.4 ENST00000234296.5 ENST00000234296.6 NR_033915 ORC2L ORC2_HUMAN Q13204 Q13416 Q53TX5 uc002uwr.1 uc002uwr.2 uc002uwr.3 uc002uwr.4 uc002uwr.5 The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. This protein forms a core complex with ORC3, -4, and -5. It also interacts with CDC45 and MCM10, which are proteins known to be important for the initiation of DNA replication. This protein has been demonstrated to specifically associate with the origin of replication of Epstein-Barr virus in human cells, and is thought to be required for DNA replication from viral origin of replication. Alternatively spliced transcript variants have been found, one of which is a nonsense-mediated mRNA decay candidate. [provided by RefSeq, Oct 2010]. Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent, however specific DNA sequences that define origins of replication have not been identified so far. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. ORC is composed of six subunits. In human, ORC is cell cycle-dependent regulated: it is sequentially assembled at the exit from anaphase of mitosis and disassembled as cells enter S phase. Interacts with DBF4 (By similarity). Interacts with MCM10. Q7L590:MCM10; NbExp=5; IntAct=EBI-374957, EBI-374912; P25205:MCM3; NbExp=2; IntAct=EBI-374957, EBI-355153; Q13415:ORC1; NbExp=6; IntAct=EBI-374957, EBI-374847; O43929:ORC4; NbExp=6; IntAct=EBI-374957, EBI-374889; O43913:ORC5; NbExp=7; IntAct=EBI-374957, EBI-374928; Nucleus. Belongs to the ORC2 family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/orc2l/"; G1/S transition of mitotic cell cycle negative regulation of transcription from RNA polymerase II promoter nuclear chromosome, telomeric region chromatin heterochromatin origin recognition complex condensed chromosome inner kinetochore DNA replication origin binding protein binding nucleus nucleoplasm nuclear origin of replication recognition complex centrosome DNA replication DNA replication initiation membrane uc002uwr.1 uc002uwr.2 uc002uwr.3 uc002uwr.4 uc002uwr.5 
ENST00000234310.8 PPP3R1 ENST00000234310.8 Homo sapiens protein phosphatase 3 regulatory subunit B, alpha (PPP3R1), mRNA. (from RefSeq NM_000945) B2RC10 B5MDU4 CANB1_HUMAN CNA2 CNB ENST00000234310.1 ENST00000234310.2 ENST00000234310.3 ENST00000234310.4 ENST00000234310.5 ENST00000234310.6 ENST00000234310.7 NM_000945 P06705 P15117 P63098 Q08044 Q53SL0 uc002sei.1 uc002sei.2 uc002sei.3 Regulatory subunit of calcineurin, a calcium-dependent, calmodulin stimulated protein phosphatase. Confers calcium sensitivity. Composed of a catalytic subunit (A) and a regulatory subunit (B). This protein has four functional calcium-binding sites. Belongs to the calcineurin regulatory subunit family. Contains 4 EF-hand domains. calcium-dependent protein serine/threonine phosphatase activity calcium ion binding protein binding calmodulin binding nucleoplasm cytoplasm mitochondrion cytosol plasma membrane calcineurin complex protein dephosphorylation Wnt signaling pathway, calcium modulating pathway cyclosporin A binding membrane phosphatase binding protein domain specific binding calcineurin-NFAT signaling cascade Fc-epsilon receptor signaling pathway sarcolemma positive regulation of transcription from RNA polymerase II promoter metal ion binding positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway uc002sei.1 uc002sei.2 uc002sei.3 
ENST00000234313.8 PLEK ENST00000234313.8 Homo sapiens pleckstrin (PLEK), mRNA. (from RefSeq NM_002664) B2R9E8 ENST00000234313.1 ENST00000234313.2 ENST00000234313.3 ENST00000234313.4 ENST00000234313.5 ENST00000234313.6 ENST00000234313.7 NM_002664 P08567 P47 PLEK_HUMAN Q53SU8 Q6FGM8 Q6FGQ1 Q8WV81 uc002sen.1 uc002sen.2 uc002sen.3 uc002sen.4 uc002sen.5 uc002sen.6 Major protein kinase C substrate of platelets. O95810:SDPR; NbExp=4; IntAct=EBI-2565501, EBI-742141; Contains 1 DEP domain. Contains 2 PH domains. hematopoietic progenitor cell differentiation platelet degranulation protein kinase C binding protein binding extracellular region cytoplasm cytosol plasma membrane vesicle docking involved in exocytosis integrin-mediated signaling pathway positive regulation of platelet activation negative regulation of inositol phosphate biosynthetic process positive regulation of inositol-polyphosphate 5-phosphatase activity membrane cell projection organization positive regulation of actin filament depolymerization phospholipase C-inhibiting G-protein coupled receptor signaling pathway cortical actin cytoskeleton organization ruffle organization actin cytoskeleton reorganization positive regulation of actin filament bundle assembly ruffle membrane positive regulation of integrin activation intracellular signal transduction protein homodimerization activity phosphatidylinositol-3,4-bisphosphate binding negative regulation of G-protein coupled receptor protein signaling pathway phosphatidylinositol metabolic process negative regulation of calcium-mediated signaling regulation of cell diameter thrombin-activated receptor signaling pathway platelet aggregation protein kinase C signaling protein secretion by platelet uc002sen.1 uc002sen.2 uc002sen.3 uc002sen.4 uc002sen.5 uc002sen.6 
ENST00000234347.10 PRTN3 ENST00000234347.10 Homo sapiens proteinase 3 (PRTN3), mRNA. (from RefSeq NM_002777) ENST00000234347.1 ENST00000234347.2 ENST00000234347.3 ENST00000234347.4 ENST00000234347.5 ENST00000234347.6 ENST00000234347.7 ENST00000234347.8 ENST00000234347.9 MBN NM_002777 P15637 P18078 P24158 PRTN3_HUMAN Q4VB08 Q4VB09 Q6LBM7 Q6LBN2 Q9UD25 Q9UQD8 uc002lqa.1 uc002lqa.2 uc002lqa.3 Polymorphonuclear leukocyte serine protease that degrades elastin, fibronectin, laminin, vitronectin, and collagen types I, III, and IV (in vitro) and causes emphysema when administered by tracheal insufflation to hamsters. Hydrolysis of proteins, including elastin, by preferential cleavage: -Ala-|-Xaa- > -Val-|-Xaa-. P84022:SMAD3; NbExp=2; IntAct=EBI-465028, EBI-347161; Belongs to the peptidase S1 family. Elastase subfamily. Contains 1 peptidase S1 domain. Sequence=AAA36342.1; Type=Frameshift; Positions=34, 39; Sequence=CAA39598.1; Type=Erroneous initiation; Name=Wikipedia; Note=Proteinase 3 entry; URL="http://en.wikipedia.org/wiki/Proteinase_3"; serine-type endopeptidase activity receptor binding protein binding extracellular region extracellular space cytosol plasma membrane proteolysis membrane protein ectodomain proteolysis phagocytosis blood coagulation peptidase activity serine-type peptidase activity positive regulation of cell proliferation membrane hydrolase activity cytokine-mediated signaling pathway antimicrobial humoral response enzyme binding collagen catabolic process azurophil granule lumen neutrophil degranulation positive regulation of GTPase activity plasma membrane raft membrane raft cell-cell junction maintenance negative regulation of phagocytosis extracellular exosome neutrophil extravasation mature conventional dendritic cell differentiation uc002lqa.1 uc002lqa.2 uc002lqa.3 
ENST00000234371.10 KISS1R ENST00000234371.10 Homo sapiens KISS1 receptor (KISS1R), mRNA. (from RefSeq NM_032551) A5D8U2 AXOR12 B2RTV1 ENST00000234371.1 ENST00000234371.2 ENST00000234371.3 ENST00000234371.4 ENST00000234371.5 ENST00000234371.6 ENST00000234371.7 ENST00000234371.8 ENST00000234371.9 GPR54 KISSR_HUMAN NM_032551 Q969F8 Q96QG0 uc002lqk.1 uc002lqk.2 uc002lqk.3 uc002lqk.4 uc002lqk.5 The protein encoded by this gene is a galanin-like G protein-coupled receptor that binds metastin, a peptide encoded by the metastasis suppressor gene KISS1. The tissue distribution of the expressed gene suggests that it is involved in the regulation of endocrine function, and this is supported by the finding that this gene appears to play a role in the onset of puberty. Mutations in this gene have been associated with hypogonadotropic hypogonadism and central precocious puberty. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC141812.1, AY253982.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01820689, SAMN01820701 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000234371.10/ ENSP00000234371.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Receptor for metastin (kisspeptin-54 or kp-54), a C- terminally amidated peptide of KiSS1. KiSS1 is a metastasis suppressor protein that suppresses metastases in malignant melanomas and in some breast carcinomas without affecting tumorigenicity. The metastasis suppressor properties may be mediated in part by cell cycle arrest and induction of apoptosis in malignant cells. The receptor is essential for normal gonadotropin-released hormone physiology and for puberty. The hypothalamic KiSS1/KISS1R system is a pivotal factor in central regulation of the gonadotropic axis at puberty and in adulthood. The receptor is also probably involved in the regulation and fine- tuning of trophoblast invasion generated by the trophoblast itself. Analysis of the transduction pathways activated by the receptor identifies coupling to phospholipase C and intracellular calcium release through pertussis toxin-insensitive G(q) proteins. Cell membrane; Multi-pass membrane protein. Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Defects in KISS1R are a cause of idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]. IHH is defined as a deficiency of the pituitary secretion of follicle-stimulating hormone and luteinizing hormone, which results in the impairment of pubertal maturation and of reproductive function. Defects in KISS1R are a cause of central precocious puberty (CEPREPU) [MIM:176400]. Precocious puberty is defined as the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Central precocious puberty refers to a gonadotropin-dependent type which results from premature activation of the hypothalamic-pituitary-gonadal axis. Belongs to the G-protein coupled receptor 1 family. Name=Protein Spotlight; Note=Tintin's blight - Issue 58 of May 2005; URL="http://web.expasy.org/spotlight/back_issues/sptlt058.shtml"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KISS1R"; G-protein coupled receptor activity protein binding plasma membrane integral component of plasma membrane cilium signal transduction G-protein coupled receptor signaling pathway neuropeptide signaling pathway neuropeptide receptor activity G-protein coupled peptide receptor activity cell surface membrane integral component of membrane intracellular membrane-bounded organelle uc002lqk.1 uc002lqk.2 uc002lqk.3 uc002lqk.4 uc002lqk.5 
ENST00000234389.3 GRIN3B ENST00000234389.3 Homo sapiens glutamate ionotropic receptor NMDA type subunit 3B (GRIN3B), mRNA. (from RefSeq NM_138690) ENST00000234389.1 ENST00000234389.2 NMD3B_HUMAN NM_138690 O60391 Q5EAK7 Q7RTW9 uc002lqo.1 uc002lqo.2 The protein encoded by this gene is a subunit of an N-methyl-D-aspartate (NMDA) receptor. The encoded protein is found primarily in motor neurons, where it forms a heterotetramer with GRIN1 to create an excitatory glycine receptor. Variations in this gene have been proposed to be linked to schizophrenia. [provided by RefSeq, Nov 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY507106.1, AY507107.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2158569, SAMN01820689 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000234389.3/ ENSP00000234389.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## NMDA receptor subtype of glutamate-gated ion channels with reduced single-channel conductance, low calcium permeability and low voltage-dependent sensitivity to magnesium. Mediated by glycine. Forms heteromeric channel of a zeta subunit (GRIN1), a epsilon subunit (GRIN2A, GRIN2B, GRIN2C or GRIN2D) and a third subunit (GRIN3A or GRIN3B). Does not form functional homomeric channels. Found in a complex containing GRIN1 and GRIN2A (By similarity). Cell membrane; Multi-pass membrane protein (By similarity). Cell junction, synapse, postsynaptic cell membrane (By similarity). Note=Requires the presence of GRIN1 to be targeted at the plasma membrane (By similarity). Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR3B/GRIN3B subfamily. Sequence=AAC12680.1; Type=Erroneous gene model prediction; ionotropic glutamate receptor activity ion channel activity cation channel activity calcium channel activity plasma membrane ion transport glutamate receptor activity ligand-gated ion channel activity membrane integral component of membrane glycine binding NMDA selective glutamate receptor complex cell junction neurotransmitter receptor activity ion transmembrane transport ionotropic glutamate receptor signaling pathway synaptic transmission, glutamatergic signaling receptor activity neurotransmitter binding neuronal cell body synapse postsynaptic membrane modulation of synaptic transmission protein insertion into membrane regulation of calcium ion transport regulation of postsynaptic membrane potential calcium ion transmembrane transport cation transmembrane transport postsynaptic density membrane transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential uc002lqo.1 uc002lqo.2 
ENST00000234392.3 VAX2 ENST00000234392.3 Homo sapiens ventral anterior homeobox 2 (VAX2), mRNA. (from RefSeq NM_012476) ENST00000234392.1 ENST00000234392.2 NM_012476 Q53Y33 Q9UIW0 VAX2_HUMAN uc002shh.1 uc002shh.2 uc002shh.3 uc002shh.4 uc002shh.5 This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of retinal development. [provided by RefSeq, Sep 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: Y17791.1, SRR3476690.1009352.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142853, SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000234392.3/ ENSP00000234392.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Transcription factor that may function in dorsoventral specification of the forebrain. Regulates the expression of Wnt signaling antagonists including the expression of a truncated TCF7L2 isoform that cannot bind CTNNB1 and acts therefore as a potent dominant-negative Wnt antagonist. Plays a crucial role in eye development and, in particular, in the specification of the ventral optic vesicle (By similarity). May be a regulator of axial polarization in the retina. Nucleus (Probable). Expressed in the ventral part of the optic vesicles at 7 week dpc. Belongs to the EMX homeobox family. Contains 1 homeobox DNA-binding domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus cytoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development ectoderm development axonogenesis central nervous system development visual perception dorsal/ventral axis specification Wnt signaling pathway neuron differentiation forebrain development chromatin DNA binding camera-type eye development sequence-specific DNA binding embryonic eye morphogenesis retina development in camera-type eye uc002shh.1 uc002shh.2 uc002shh.3 uc002shh.4 uc002shh.5 
ENST00000234396.10 ATP6V1B1 ENST00000234396.10 Homo sapiens ATPase H+ transporting V1 subunit B1 (ATP6V1B1), mRNA. (from RefSeq NM_001692) ATP6B1 ENST00000234396.1 ENST00000234396.2 ENST00000234396.3 ENST00000234396.4 ENST00000234396.5 ENST00000234396.6 ENST00000234396.7 ENST00000234396.8 ENST00000234396.9 NM_001692 P15313 Q53FY0 Q6P4H6 VATB VATB1_HUMAN VPP3 uc002shj.1 uc002shj.2 uc002shj.3 uc002shj.4 uc002shj.5 uc002shj.6 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC063411.1, AK291121.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000234396.10/ ENSP00000234396.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (main components: subunits A, B, C, D, E, and F) attached to an integral membrane V0 proton pore complex (main component: the proteolipid protein). Forms a complex with SLC9A3R1 and SCL4A7. Endomembrane system; Peripheral membrane protein. Note=Endomembrane. Expressed in the cochlea and endolymphatic sac. The PDZ-binding motif mediates interactions with SLC9A3R1 and SCL4A7. Defects in ATP6V1B1 are the cause of distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]. Inheritance is autosomal recessive. Patients with recessive dRTA are severely affected, presenting with either acute illness or growth failure at a young age, and bilateral sensorineural deafness. Other features include low serum K(+) due to renal potassium wasting, and elevated urinary calcium. If untreated, this acidosis may result in dissolution of bone, leading to osteomalacia and rickets. Renal deposition of calcium salts (nephrocalcinosis) and renal stone formation commonly occur. Belongs to the ATPase alpha/beta chains family. Sequence=AAA36498.1; Type=Erroneous initiation; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP6V1B1"; ossification renal water homeostasis renal sodium ion transport ATP binding cytoplasm cytosol microvillus prostaglandin metabolic process ion transport regulation of pH excretion sensory perception of sound synaptic vesicle insulin receptor signaling pathway regulation of gene expression endomembrane system hydrogen ion transmembrane transporter activity membrane regulation of macroautophagy basolateral plasma membrane apical plasma membrane lateral plasma membrane vacuolar proton-transporting V-type ATPase complex hydrolase activity adult behavior proton-transporting V-type ATPase, V1 domain transferrin transport ion transmembrane transport renal sodium excretion olfactory behavior inner ear morphogenesis macromolecular complex binding pH reduction ATP metabolic process chloride ion homeostasis calcium ion homeostasis potassium ion homeostasis extracellular exosome phagosome acidification extrinsic component of synaptic vesicle membrane hydrogen ion transmembrane transport uc002shj.1 uc002shj.2 uc002shj.3 uc002shj.4 uc002shj.5 uc002shj.6 
ENST00000234420.11 MSH6 ENST00000234420.11 Homo sapiens mutS homolog 6 (MSH6), transcript variant 1, mRNA. (from RefSeq NM_000179) ENST00000234420.1 ENST00000234420.10 ENST00000234420.2 ENST00000234420.3 ENST00000234420.4 ENST00000234420.5 ENST00000234420.6 ENST00000234420.7 ENST00000234420.8 ENST00000234420.9 GTBP MSH6_HUMAN NM_000179 O43706 O43917 P52701 Q8TCX4 Q9BTB5 uc002rwd.1 uc002rwd.2 uc002rwd.3 uc002rwd.4 uc002rwd.5 uc002rwd.6 This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]. Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair. Heterodimer consisting of MSH2-MSH6 (MutS alpha). Forms a ternary complex with MutL alpha (MLH1-PMS1). Interacts with EXO1. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with ATR. P43246:MSH2; NbExp=4; IntAct=EBI-395529, EBI-355888; Nucleus. Event=Alternative splicing; Named isoforms=2; Name=GTBP-N; IsoId=P52701-1; Sequence=Displayed; Name=GTBP-alt; IsoId=P52701-2; Sequence=VSP_003291, VSP_003292; The N-terminus is blocked. Phosphorylated upon DNA damage, probably by ATM or ATR. Phosphorylated by PRKCZ, which may prevent MutS alpha degradation by the ubiquitin-proteasome pathway. Defects in MSH6 are the cause of hereditary non-polyposis colorectal cancer type 5 (HNPCC5) [MIM:614350]. Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype (also called Lynch syndrome). Most families with clinically recognized HNPCC have mutations in either MLH1 or MSH2 genes. HNPCC is an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and extra-colonic cancers of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Cancers in HNPCC originate within benign neoplastic polyps termed adenomas. Clinically, HNPCC is often divided into two subgroups. Type I: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II: patients have an increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. MSH6 mutations appear to be associated with atypical HNPCC and in particular with development of endometrial carcinoma or atypical endometrial hyperplasia, the presumed precursor of endometrial cancer. Defects in MSH6 are also found in familial colorectal cancers (suspected or incomplete HNPCC) that do not fulfill the Amsterdam criteria for HNPCC. Defects in MSH6 are a cause of susceptibility to endometrial cancer (ENDMC) [MIM:608089]. Defects in MSH6 are a cause of mismatch repair cancer syndrome (MMRCS) [MIM:276300]; also known as Turcot syndrome or brain tumor-polyposis syndrome 1 (BTPS1). MMRCS is an autosomal dominant disorder characterized by malignant tumors of the brain associated with multiple colorectal adenomas. Skin features include sebaceous cysts, hyperpigmented and cafe au lait spots. Belongs to the DNA mismatch repair MutS family. Contains 1 PWWP domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MSH6ID344ch2p16.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MSH6"; Name=Hereditary non-polyposis colorectal cancer db; URL="http://www.nfdht.nl/"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/msh6/"; nucleotide binding four-way junction DNA binding meiotic mismatch repair nuclear chromatin DNA binding chromatin binding damaged DNA binding protein binding ATP binding nucleus nucleoplasm chromosome Golgi apparatus cytosol DNA repair pyrimidine dimer repair mismatch repair cellular response to DNA damage stimulus DNA-dependent ATPase activity determination of adult lifespan intrinsic apoptotic signaling pathway in response to DNA damage response to UV viral process somatic hypermutation of immunoglobulin genes somatic recombination of immunoglobulin gene segments enzyme binding mismatched DNA binding guanine/thymine mispair binding mismatch repair complex MutSalpha complex methylated histone binding interstrand cross-link repair intracellular membrane-bounded organelle maintenance of DNA repeat elements isotype switching negative regulation of DNA recombination positive regulation of helicase activity intrinsic apoptotic signaling pathway magnesium ion binding double-stranded DNA binding ATPase activity single guanine insertion binding single thymine insertion binding oxidized purine DNA binding MutLalpha complex binding ADP binding protein homodimerization activity uc002rwd.1 uc002rwd.2 uc002rwd.3 uc002rwd.4 uc002rwd.5 uc002rwd.6 
ENST00000234453.10 PLEKHA3 ENST00000234453.10 Homo sapiens pleckstrin homology domain containing A3 (PLEKHA3), mRNA. (from RefSeq NM_019091) ENST00000234453.1 ENST00000234453.2 ENST00000234453.3 ENST00000234453.4 ENST00000234453.5 ENST00000234453.6 ENST00000234453.7 ENST00000234453.8 ENST00000234453.9 FAPP1 NM_019091 PKHA3_HUMAN Q4ZG69 Q86TQ1 Q9HB20 Q9NXT3 uc002umn.1 uc002umn.2 uc002umn.3 uc002umn.4 uc002umn.5 Involved in Golgi to cell surface membrane traffic. Induces membrane tubulation. Binds preferentially to phosphatidylinositol 4-phosphate (PtdIns4P). Interacts with GTP-bound ARF1. Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Widely expressed. The PH domain of FAPPS binds the small GTPase ARF1 and phosphatidylinositol-4-phosphate (PtdIns4P) with high selectivity, and is required for recruitment of FAPPs to the trans-Golgi network (TGN) (By similarity). Contains 1 PH domain. Sequence=BAA90927.1; Type=Erroneous initiation; Golgi membrane Golgi apparatus cytosol phosphatidylinositol biosynthetic process biological_process lipid binding membrane ER to Golgi ceramide transport ceramide transport phosphatidylinositol-4-phosphate binding ceramide 1-phosphate binding ceramide 1-phosphate transporter activity ceramide 1-phosphate transport uc002umn.1 uc002umn.2 uc002umn.3 uc002umn.4 uc002umn.5 
ENST00000234454.6 SPR ENST00000234454.6 Homo sapiens sepiapterin reductase (SPR), mRNA. (from RefSeq NM_003124) A8K741 D6W5H2 ENST00000234454.1 ENST00000234454.2 ENST00000234454.3 ENST00000234454.4 ENST00000234454.5 NM_003124 P35270 Q53GI9 Q9UBB1 SPRE_HUMAN uc002sik.1 uc002sik.2 uc002sik.3 uc002sik.4 This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.467140.1, AK222942.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000234454.6/ ENSP00000234454.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Catalyzes the final one or two reductions in tetra- hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin. L-erythro-7,8-dihydrobiopterin + NADP(+) = sepiapterin + NADPH. L-erythro-tetrahydrobiopterin + 2 NADP(+) = 6- pyruvoyl-5,6,7,8-tetrahydropterin + 2 NADPH. Kinetic parameters: KM=14.3 uM for sepiapterin; KM=10 uM for NADPH; Homodimer. Cytoplasm. In vitro phosphorylation of Ser-213 by CaMK2 does not change kinetic parameters. Defects in SPR are the cause of dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]. In the majority of cases, patients manifest progressive psychomotor retardation, dystonia and spasticity. Cognitive anomalies are also often present. The disease is due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Belongs to the sepiapterin reductase family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SPR"; aldo-keto reductase (NADP) activity sepiapterin reductase activity nucleoplasm cytoplasm cytosol tetrahydrobiopterin biosynthetic process nitric oxide biosynthetic process oxidoreductase activity NADP binding regulation of nitric-oxide synthase activity cofactor metabolic process oxidation-reduction process extracellular exosome uc002sik.1 uc002sik.2 uc002sik.3 uc002sik.4 
ENST00000234590.10 ENO1 ENST00000234590.10 Homo sapiens enolase 1 (ENO1), transcript variant 1, mRNA. (from RefSeq NM_001428) B2RD59 ENO1L1 ENOA_HUMAN ENST00000234590.1 ENST00000234590.2 ENST00000234590.3 ENST00000234590.4 ENST00000234590.5 ENST00000234590.6 ENST00000234590.7 ENST00000234590.8 ENST00000234590.9 MBPB1 MPB1 NM_001428 P06733 P22712 Q16704 Q4TUS4 Q53FT9 Q53HR3 Q658M5 Q6GMP2 Q71V37 Q7Z3V6 Q8WU71 Q9UCH6 Q9UM55 uc001apj.1 uc001apj.2 uc001apj.3 uc001apj.4 This gene encodes alpha-enolase, one of three enolase isoenzymes found in mammals. Each isoenzyme is a homodimer composed of 2 alpha, 2 gamma, or 2 beta subunits, and functions as a glycolytic enzyme. Alpha-enolase in addition, functions as a structural lens protein (tau-crystallin) in the monomeric form. Alternative splicing of this gene results in a shorter isoform that has been shown to bind to the c-myc promoter and function as a tumor suppressor. Several pseudogenes have been identified, including one on the long arm of chromosome 1. Alpha-enolase has also been identified as an autoantigen in Hashimoto encephalopathy. [provided by RefSeq, Jan 2011]. Multifunctional enzyme that, as well as its role in glycolysis, plays a part in various processes such as growth control, hypoxia tolerance and allergic responses. May also function in the intravascular and pericellular fibrinolytic system due to its ability to serve as a receptor and activator of plasminogen on the cell surface of several cell-types such as leukocytes and neurons. Stimulates immunoglobulin production. MBP1 binds to the myc promoter and acts as a transcriptional repressor. May be a tumor suppressor. 2-phospho-D-glycerate = phosphoenolpyruvate + H(2)O. Magnesium. Required for catalysis and for stabilizing the dimer. pH dependence: Enolase activity is lost above pH 9.0. Immunoglobulin production stimulating activity is retained at pH 13.0; Carbohydrate degradation; glycolysis; pyruvate from D- glyceraldehyde 3-phosphate: step 4/5. Mammalian enolase is composed of 3 isozyme subunits, alpha, beta and gamma, which can form homodimers or heterodimers which are cell-type and development-specific. ENO1 interacts with PLG in the neuronal plasma membrane and promotes its activation. The C-terminal lysine is required for this binding (By similarity). P22303:ACHE; NbExp=2; IntAct=EBI-353877, EBI-1637793; Q8WZ42:TTN; NbExp=3; IntAct=EBI-353877, EBI-681210; Cytoplasm. Cell membrane. Cytoplasm, myofibril, sarcomere, M line. Note=Can translocate to the plasma membrane in either the homodimeric (alpha/alpha) or heterodimeric (alpha/gamma) form. ENO1 is localized to the M line. Isoform MBP-1: Nucleus. Event=Alternative initiation; Named isoforms=2; Name=alpha-enolase; IsoId=P06733-1; Sequence=Displayed; Name=MBP-1; IsoId=P06733-2; Sequence=VSP_018725; Note=It is uncertain whether the alternative initiation site is at Met-94 or at Met-97; The alpha/alpha homodimer is expressed in embryo and in most adult tissues. The alpha/beta heterodimer and the beta/beta homodimer are found in striated muscle, and the alpha/gamma heterodimer and the gamma/gamma homodimer in neurons. During ontogenesis, there is a transition from the alpha/alpha homodimer to the alpha/beta heterodimer in striated muscle cells, and to the alpha/gamma heterodimer in nerve cells. Induced in diffuse large cell lymphoma (DLCL) after treatment with the natural biological agent, Bryo1. Up-regulated in response to enterovirus 71 (EV71) infection (at protein level). ISGylated. Used as a diagnostic marker for many tumors and, in the heterodimeric form, alpha/gamma, as a marker for hypoxic brain injury after cardiac arrest. Also marker for endometriosis. Antibodies against alpha-enolase are present in sera from patients with cancer-associated retinopathy syndrome (CAR), a progressive blinding disease which occurs in the presence of systemic tumor growth, primarily small-cell carcinoma of the lung and other malignancies. Is identified as an autoantigen in Hashimoto encephalopathy (HE) a rare autoimmune disease associated with Hashimoto thyroiditis (HT). HT is a disorder in which destructive processes overcome the potential capacity of thyroid replacement leading to hypothyroidism. Belongs to the enolase family. Sequence=AAA35698.1; Type=Frameshift; Positions=Several; Sequence=AAA35698.1; Type=Miscellaneous discrepancy; Note=Sequencing errors; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/eno1/"; phosphopyruvate hydratase complex negative regulation of transcription from RNA polymerase II promoter magnesium ion binding RNA polymerase II regulatory region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding RNA binding phosphopyruvate hydratase activity protein binding extracellular space nucleus cytoplasm cytosol plasma membrane gluconeogenesis glycolytic process response to virus cell surface positive regulation of plasminogen activation membrane lyase activity negative regulation of cell growth M band protein homodimerization activity cadherin binding negative regulation of transcription, DNA-templated positive regulation of muscle contraction metal ion binding GTPase binding canonical glycolysis extracellular exosome cell cortex region negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway positive regulation of ATP biosynthetic process uc001apj.1 uc001apj.2 uc001apj.3 uc001apj.4 
ENST00000234626.11 CDC7 ENST00000234626.11 Homo sapiens cell division cycle 7 (CDC7), transcript variant 1, mRNA. (from RefSeq NM_003503) CDC7L1 CDC7_HUMAN D3DT31 ENST00000234626.1 ENST00000234626.10 ENST00000234626.2 ENST00000234626.3 ENST00000234626.4 ENST00000234626.5 ENST00000234626.6 ENST00000234626.7 ENST00000234626.8 ENST00000234626.9 NM_003503 O00311 O00558 Q5T5U5 uc001doe.1 uc001doe.2 uc001doe.3 uc001doe.4 uc001doe.5 This gene encodes a cell division cycle protein with kinase activity that is critical for the G1/S transition. The yeast homolog is also essential for initiation of DNA replication as cell division occurs. Overexpression of this gene product may be associated with neoplastic transformation for some tumors. Multiple alternatively spliced transcript variants that encode the same protein have been detected. [provided by RefSeq, Aug 2008]. Seems to phosphorylate critical substrates that regulate the G1/S phase transition and/or DNA replication. Can phosphorylates MCM2 and MCM3. ATP + a protein = ADP + a phosphoprotein. Magnesium. Forms a complex with either DBF4/DBF4A or DBF4B, leading to the activation of the kinase activity. Nucleus. Event=Alternative splicing; Named isoforms=1; Comment=A number of isoforms may be produced; Name=1; IsoId=O00311-1; Sequence=Displayed; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. CDC7 subfamily. Contains 1 protein kinase domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cdc7/"; G1/S transition of mitotic cell cycle nucleotide binding double-strand break repair via break-induced replication protein kinase activity protein serine/threonine kinase activity protein binding ATP binding nucleus nucleoplasm cytoplasm DNA replication protein phosphorylation cell cycle positive regulation of cell proliferation positive regulation of nuclear cell cycle DNA replication positive regulation of G2/M transition of mitotic cell cycle kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation cell cycle phase transition intercellular bridge metal ion binding cell division negative regulation of G0 to G1 transition mitotic spindle uc001doe.1 uc001doe.2 uc001doe.3 uc001doe.4 uc001doe.5 
ENST00000234677.7 SARS1 ENST00000234677.7 Homo sapiens seryl-tRNA synthetase 1 (SARS1), transcript variant 1, mRNA. (from RefSeq NM_006513) B2R6Y9 ENST00000234677.1 ENST00000234677.2 ENST00000234677.3 ENST00000234677.4 ENST00000234677.5 ENST00000234677.6 NM_006513 P49591 Q5T5C8 Q9NSE3 SARS SERS SYSC_HUMAN uc001dwu.1 uc001dwu.2 uc001dwu.3 uc001dwu.4 This gene belongs to the class II amino-acyl tRNA family. The encoded enzyme catalyzes the transfer of L-serine to tRNA (Ser) and is related to bacterial and yeast counterparts. Multiple alternatively spliced transcript variants have been described but the biological validity of all variants is unknown. [provided by RefSeq, Jul 2010]. Catalyzes the attachment of serine to tRNA(Ser). Is also probably able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L-seryl-tRNA(Sec), which will be further converted into selenocysteinyl-tRNA(Sec). ATP + L-serine + tRNA(Ser) = AMP + diphosphate + L-seryl-tRNA(Ser). ATP + L-serine + tRNA(Sec) = AMP + diphosphate + L-seryl-tRNA(Sec). Aminoacyl-tRNA biosynthesis; selenocysteinyl-tRNA(Sec) biosynthesis; L-seryl-tRNA(Sec) from L-serine and tRNA(Sec): step 1/1. Homodimer. The tRNA molecule binds across the dimer (By similarity). Q8IXJ6:SIRT2; NbExp=1; IntAct=EBI-1053431, EBI-477232; Cytoplasm. Consists of two distinct domains, a catalytic core and a N-terminal extension that is involved in tRNA binding (By similarity). Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the class-II aminoacyl-tRNA synthetase family. Type-1 seryl-tRNA synthetase subfamily. negative regulation of transcription from RNA polymerase II promoter nucleotide binding RNA polymerase II core promoter proximal region sequence-specific DNA binding DNA binding RNA binding aminoacyl-tRNA ligase activity serine-tRNA ligase activity protein binding ATP binding nucleus cytoplasm cytosol translation tRNA aminoacylation for protein translation seryl-tRNA aminoacylation tRNA processing selenocysteine metabolic process negative regulation of angiogenesis ligase activity protein homodimerization activity extracellular exosome selenocysteinyl-tRNA(Sec) biosynthetic process negative regulation of vascular endothelial growth factor production uc001dwu.1 uc001dwu.2 uc001dwu.3 uc001dwu.4 
ENST00000234701.7 CLCA1 ENST00000234701.7 May be involved in mediating calcium-activated chloride conductance. May play critical roles in goblet cell metaplasia, mucus hypersecretion, cystic fibrosis and AHR. May be involved in the regulation of mucus production and/or secretion by goblet cells. Involved in the regulation of tissue inflammation in the innate immune response. May play a role as a tumor suppressor. Induces MUC5AC. (from UniProt A8K7I4) A8K7I4 AF039400 B2RAV5 CACC1 CLCA1_HUMAN ENST00000234701.1 ENST00000234701.2 ENST00000234701.3 ENST00000234701.4 ENST00000234701.5 ENST00000234701.6 O95151 Q5TDF4 Q9UNF6 Q9UPC6 uc057ibt.1 May be involved in mediating calcium-activated chloride conductance. May play critical roles in goblet cell metaplasia, mucus hypersecretion, cystic fibrosis and AHR. May be involved in the regulation of mucus production and/or secretion by goblet cells. Involved in the regulation of tissue inflammation in the innate immune response. May play a role as a tumor suppressor. Induces MUC5AC. Secreted, extracellular space. Cell membrane; Peripheral membrane protein; Extracellular side. Note=Protein that remains attached to the plasma membrane appeared to be predominantly localized to microvilli. Highly expressed in small intestine and colon namely in intestinal basal crypt epithelia and goblet cells, and appendix. Weakly expressed in uterus, testis and kidney. Expressed in the airways epithelium of both asthmatic and healthy patients. Expressed in the bronchial epithelium, especially in mucus- producing goblet cells. Expressed in normal turbinate mucosa and nasal polyp. Expressed in. By IL13/interleukin-13 in tracheobronchial epithelial cells. Up-regulated by histamine in a dose-dependent manner. Significantly down-regulated in colorectal cancer. Significantly up-regulated in the IL9-responsive mucus-producing epithelium of asthmatic patients. Significantly decreased in nasal polyp. Significantly increased by TNF in upper airway mucosa. Glycosylated. The 125-kDa product is processed and yields to two cell- surface-associated subunits, a 90-kDa protein and a group of 37-to 41-kDa proteins. Belongs to the CLCR family. Contains 1 VWFA domain. intracellular calcium activated chloride channel activity chloride channel activity extracellular region extracellular space plasma membrane integral component of plasma membrane microvillus proteolysis ion transport calcium ion transport chloride transport peptidase activity metallopeptidase activity membrane integral component of membrane hydrolase activity secretory granule ion transmembrane transport zymogen granule membrane metal ion binding cellular response to hypoxia chloride transmembrane transport uc057ibt.1 
ENST00000234739.8 BCL9 ENST00000234739.8 Homo sapiens BCL9 transcription coactivator (BCL9), mRNA. (from RefSeq NM_004326) BCL9_HUMAN ENST00000234739.1 ENST00000234739.2 ENST00000234739.3 ENST00000234739.4 ENST00000234739.5 ENST00000234739.6 ENST00000234739.7 NM_004326 O00512 Q5T489 uc031uul.1 uc031uul.2 uc031uul.3 BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: Y13620.1, SRR1803617.62371.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000234739.8/ ENSP00000234739.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Involved in signal transduction through the Wnt pathway. Promotes beta-catenin's transcriptional activity (By similarity). Binds to beta-catenin (CTNNB1), PYGO1 and PYGO2. P18824:arm (xeno); NbExp=3; IntAct=EBI-533127, EBI-216128; Q6P1J9:CDC73; NbExp=2; IntAct=EBI-533127, EBI-930143; P35222:CTNNB1; NbExp=2; IntAct=EBI-533127, EBI-491549; Q9V9W8:pygo (xeno); NbExp=3; IntAct=EBI-533127, EBI-152653; Q9Y3Y4:PYGO1; NbExp=7; IntAct=EBI-533127, EBI-3397474; Nucleus (By similarity). Detected at low levels in thymus, prostate, testis, ovary and small intestine, and at lower levels in spleen, colon and blood. Phosphorylated upon DNA damage, probably by ATM or ATR. Note=A chromosomal aberration involving BCL9 is found in a patient with precusor B-cell acute lymphoblastic leukemia (ALL). Translocation t(1;14)(q21;q32). This translocation leaves the coding region intact, but may have pathogenic effects due to alterations in the expression level of BCL9. Several cases of translocations within the 3'-UTR of BCL9 have been found in B-cell malignancies. Belongs to the BCL9 family. It is uncertain whether Met-1 or Met-27 is the initiator. Sequence=CAA73942.1; Type=Frameshift; Positions=1391; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/BCL9ID466.html"; transcription coactivator activity protein binding nucleus nucleoplasm cytoplasm Golgi apparatus cis-Golgi network beta-catenin binding myotube differentiation involved in skeletal muscle regeneration Wnt signaling pathway somatic stem cell population maintenance skeletal muscle cell differentiation positive regulation of transcription from RNA polymerase II promoter canonical Wnt signaling pathway beta-catenin-TCF complex assembly beta-catenin-TCF complex regulation of transforming growth factor beta receptor signaling pathway uc031uul.1 uc031uul.2 uc031uul.3 
ENST00000234798.5 TPSG1 ENST00000234798.5 Homo sapiens tryptase gamma 1 (TPSG1), mRNA. (from RefSeq NM_012467) ENST00000234798.1 ENST00000234798.2 ENST00000234798.3 ENST00000234798.4 NM_012467 PRSS31 Q96RZ8 Q9C015 Q9NRQ8 Q9NRR2 Q9UBB2 TMT TRYG1_HUMAN uc002ckw.1 uc002ckw.2 uc002ckw.3 uc002ckw.4 Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. There is uncertainty regarding the number of genes in this cluster. Currently four functional genes - alpha I, beta I, beta II and gamma I - have been identified. And beta I has an allelic variant named alpha II, beta II has an allelic variant beta III, also gamma I has an allelic variant gamma II. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha-tryptases predominant. This gene differs from other members of the tryptase gene family in that it has C-terminal hydrophobic domain, which may serve as a membrane anchor. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA2153946 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Membrane; Single-pass membrane protein (Potential). Expressed in many tissues. There are two alleles; gamma-I and gamma-II which differ by 5 residues. Belongs to the peptidase S1 family. Tryptase subfamily. Contains 1 peptidase S1 domain. serine-type endopeptidase activity extracellular space integral component of plasma membrane proteolysis peptidase activity serine-type peptidase activity membrane integral component of membrane hydrolase activity uc002ckw.1 uc002ckw.2 uc002ckw.3 uc002ckw.4 
ENST00000234816.7 ANGPTL1 ENST00000234816.7 Homo sapiens angiopoietin like 1 (ANGPTL1), transcript variant 1, mRNA. (from RefSeq NM_004673) ANG3 ANGL1_HUMAN ANGPT3 ARP1 ENST00000234816.1 ENST00000234816.2 ENST00000234816.3 ENST00000234816.4 ENST00000234816.5 ENST00000234816.6 NM_004673 O95841 PSEC0154 Q5T5Z5 UNQ162/PRO188 uc001gma.1 uc001gma.2 uc001gma.3 uc001gma.4 uc001gma.5 Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. The protein encoded by this gene is another member of the angiopoietin family that is widely expressed in adult tissues with mRNA levels highest in highly vascularized tissues. This protein was found to be a secretory protein that does not act as an endothelial cell mitogen in vitro. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803613.47398.1, AY358278.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000234816.7/ ENSP00000234816.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Secreted. Highly expressed in adrenal gland, placenta, thyroid gland, heart, skeletal muscle and small intestine. Weakly expressed in testis, ovary, colon, pancreas, kidney and stomach. Contains 1 fibrinogen C-terminal domain. receptor binding extracellular region extracellular space transmembrane receptor protein tyrosine kinase signaling pathway extracellular exosome uc001gma.1 uc001gma.2 uc001gma.3 uc001gma.4 uc001gma.5 
ENST00000234827.6 TCEANC2 ENST00000234827.6 Homo sapiens transcription elongation factor A N-terminal and central domain containing 2 (TCEANC2), transcript variant 1, mRNA. (from RefSeq NM_153035) C1orf83 ENST00000234827.1 ENST00000234827.2 ENST00000234827.3 ENST00000234827.4 ENST00000234827.5 NM_153035 Q5T702 Q8N8N2 Q96MN5 TEAN2_HUMAN uc001cwt.1 uc001cwt.2 uc001cwt.3 Nucleus (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96MN5-1; Sequence=Displayed; Name=2; IsoId=Q96MN5-2; Sequence=VSP_025096; Belongs to the TCEANC2 family. Contains 1 TFIIS central domain. Contains 1 TFIIS N-terminal domain. Sequence=CAI22668.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; protein binding nucleus transcription, DNA-templated uc001cwt.1 uc001cwt.2 uc001cwt.3 
ENST00000234831.10 TMEM59 ENST00000234831.10 Homo sapiens transmembrane protein 59 (TMEM59), transcript variant 2, mRNA. (from RefSeq NM_004872) B3KQL7 C1orf8 ENST00000234831.1 ENST00000234831.2 ENST00000234831.3 ENST00000234831.4 ENST00000234831.5 ENST00000234831.6 ENST00000234831.7 ENST00000234831.8 ENST00000234831.9 HSPC001 NM_004872 O75393 Q4VBP9 Q5T705 Q96KX7 Q9BXS4 TMM59_HUMAN UNQ169/PRO195 uc001cwp.1 uc001cwp.2 uc001cwp.3 uc001cwp.4 uc001cwp.5 This gene encodes a protein shown to regulate autophagy in response to bacterial infection. This protein may also regulate the retention of amyloid precursor protein (APP) in the Golgi apparatus through its control of APP glycosylation. Overexpression of this protein has been found to promote apoptosis in a glioma cell line. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]. Modulates the O-glycosylation and complex N- glycosylation steps occurring during the Golgi maturation of several proteins such as APP, BACE1, SEAP or PRNP. Inhibits APP transport to the cell surface and further shedding. Golgi apparatus membrane; Single-pass type I membrane protein. N-glycosylated. Belongs to the TMEM59 family. Sequence=AAC39890.1; Type=Frameshift; Positions=6; Sequence=AAH03106.1; Type=Erroneous initiation; Golgi cis cisterna Golgi trans cisterna Golgi membrane endopeptidase activity protein binding lysosome lysosomal membrane endosome late endosome Golgi apparatus Golgi medial cisterna plasma membrane proteolysis autophagy positive regulation of autophagy negative regulation of protein processing membrane integral component of membrane late endosome membrane extracellular exosome negative regulation of protein glycosylation in Golgi negative regulation of protein localization to plasma membrane uc001cwp.1 uc001cwp.2 uc001cwp.3 uc001cwp.4 uc001cwp.5 
ENST00000234875.9 RPL22 ENST00000234875.9 Homo sapiens ribosomal protein L22 (RPL22), mRNA. (from RefSeq NM_000983) B2R495 ENST00000234875.1 ENST00000234875.2 ENST00000234875.3 ENST00000234875.4 ENST00000234875.5 ENST00000234875.6 ENST00000234875.7 ENST00000234875.8 NM_000983 P35268 Q6IBD1 RL22_HUMAN uc001amd.1 uc001amd.2 uc001amd.3 uc001amd.4 uc001amd.5 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belongs to the L22E family of ribosomal proteins. Its initiating methionine residue is post-translationally removed. The protein can bind specifically to Epstein-Barr virus-encoded RNAs (EBERs) 1 and 2. The mouse protein has been shown to be capable of binding to heparin. Transcript variants utilizing alternative polyA signals exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. It was previously thought that this gene mapped to 3q26 and that it was fused to the acute myeloid leukemia 1 (AML1) gene located at 21q22 in some therapy-related myelodysplastic syndrome patients with 3;21 translocations; however, these fusions actually involve a ribosomal protein L22 pseudogene located at 3q26, and this gene actually maps to 1p36.3-p36.2. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.436838.1, SRR3476690.1039763.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000234875.9/ ENSP00000346088.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds to Epstein-Barr virus small RNAs and to heparin. Belongs to the ribosomal protein L22e family. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic translation RNA binding structural constituent of ribosome protein binding nucleus cytoplasm cytosol ribosome focal adhesion translation translational initiation SRP-dependent cotranslational protein targeting to membrane heparin binding viral transcription cytosolic large ribosomal subunit translation regulator activity alpha-beta T cell differentiation extracellular exosome presynapse glutamatergic synapse regulation of translation at presynapse, modulating synaptic transmission ribonucleoprotein complex uc001amd.1 uc001amd.2 uc001amd.3 uc001amd.4 uc001amd.5 
ENST00000234961.7 OPRD1 ENST00000234961.7 Homo sapiens opioid receptor delta 1 (OPRD1), mRNA. (from RefSeq NM_000911) B5B0B8 ENST00000234961.1 ENST00000234961.2 ENST00000234961.3 ENST00000234961.4 ENST00000234961.5 ENST00000234961.6 NM_000911 OPRD OPRD_HUMAN P41143 uc001brf.1 uc001brf.2 uc001brf.3 Inhibits neurotransmitter release by reducing calcium ion currents and increasing potassium ion conductance. Highly stereoselective. receptor for enkephalins. Interacts with GPRASP1. Q5JY77:GPRASP1; NbExp=2; IntAct=EBI-2624456, EBI-2514717; Cell membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor 1 family. Name=Wikipedia; Note=Delta opioid receptor entry; URL="http://en.wikipedia.org/wiki/Delta_opioid_receptor"; G-protein coupled receptor activity opioid receptor activity protein binding cytoplasm plasma membrane integral component of plasma membrane immune response signal transduction G-protein coupled receptor signaling pathway G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway phospholipase C-activating G-protein coupled receptor signaling pathway neuropeptide signaling pathway adult locomotory behavior negative regulation of gene expression membrane integral component of membrane cytokine-mediated signaling pathway integral component of synaptic vesicle membrane intrinsic component of plasma membrane negative regulation of protein complex assembly vesicle dendrite membrane positive regulation of CREB transcription factor activity positive regulation of peptidyl-serine phosphorylation receptor serine/threonine kinase binding opioid receptor signaling pathway enkephalin receptor activity peptide binding eating behavior neuropeptide binding axon terminus membrane raft postsynaptic membrane regulation of mitochondrial membrane potential regulation of calcium ion transport regulation of sensory perception of pain cellular response to growth factor stimulus cellular response to hypoxia cellular response to toxic substance spine apparatus neuronal dense core vesicle integral component of presynaptic membrane integral component of postsynaptic density membrane uc001brf.1 uc001brf.2 uc001brf.3 
ENST00000235090.10 WDR77 ENST00000235090.10 Homo sapiens WD repeat domain 77 (WDR77), transcript variant 5, non-coding RNA. (from RefSeq NR_133654) B3KMW6 ENST00000235090.1 ENST00000235090.2 ENST00000235090.3 ENST00000235090.4 ENST00000235090.5 ENST00000235090.6 ENST00000235090.7 ENST00000235090.8 ENST00000235090.9 HKMT1069 MEP50 MEP50_HUMAN NR_133654 Nbla10071 Q3LID2 Q53FU2 Q6JZZ5 Q96GK4 Q9BQA1 Q9BWY3 uc001ebb.1 uc001ebb.2 uc001ebb.3 uc001ebb.4 uc001ebb.5 The protein encoded by this gene is an androgen receptor coactivator that forms a complex with protein arginine methyltransferase 5, which modifies specific arginines to dimethylarginines in several spliceosomal Sm proteins. The encoded protein may be involved in the early stages of prostate cancer, with most of the protein being nuclear-localized in benign cells but cytoplasmic in cancer cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]. Non-catalytic component of the 20S PRMT5-containing methyltransferase complex, which modifies specific arginines to dimethylarginines in several spliceosomal Sm proteins. This modification targets Sm proteins to the survival of motor neurons (SMN) complex for assembly into small nuclear ribonucleoprotein core particles. Might play a role in transcription regulation. The 20S PRMT5-containing methyltransferase complex also methylates the Piwi proteins (PIWIL1, PIWIL2 and PIWIL4), methylation of Piwi proteins being required for the interaction with Tudor domain- containing proteins and subsequent localization to the meiotic nuage. Component of the methylosome, a 20S complex containing at least PRMT5, CLNS1A and WDR77. Directly interacts with PRMT5, as well as with several Sm proteins, including SNRPB and SNRPD2 and, more weakly, SNRPD3 and SNRPE. Interacts with SUZ12 and histone H2A/HIST2H2AC, but not with histones H2B, H3 nor H4. Interacts with CTDP1 and LSM11. Interacts with APEX1, AR and NKX3-1. Nucleus. Cytoplasm. Note=Nuclear in Leydig cells and cytoplasmic in germ cells during fetal testicular development. In adult testis, predominantly nuclear. Subcellular location varies from nuclear to cytoplasmic in various tumors. Highly expressed in heart, skeletal muscle, spleen, testis, uterus, prostate and thymus. In testis, expressed in germ cells and Leydig cells, but not in peritubular myocytes, nor in Sertoli cells. Expressed in prostate cancers, in seminomas and in Leydig cell tumors. Expressed in Leydig cells during fetal testicular development, especially during the second semester. Germ cells expression is detected as early as 10 weeks of gestation. Contains 5 WD repeats. spliceosomal snRNP assembly protein binding nucleus nucleoplasm cytoplasm Golgi apparatus cytosol regulation of transcription from RNA polymerase II promoter positive regulation of cell proliferation negative regulation of cell proliferation methyl-CpG binding ligand-dependent nuclear receptor transcription coactivator activity methylosome secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development negative regulation of epithelial cell proliferation involved in prostate gland development positive regulation of nucleic acid-templated transcription uc001ebb.1 uc001ebb.2 uc001ebb.3 uc001ebb.4 uc001ebb.5 
ENST00000235150.5 RNF19B ENST00000235150.5 Homo sapiens ring finger protein 19B (RNF19B), transcript variant 3, mRNA. (from RefSeq NM_001300826) ENST00000235150.1 ENST00000235150.2 ENST00000235150.3 ENST00000235150.4 IBRDC3 NKLAM NM_001300826 Q0VG77 Q5TH44 Q5TH45 Q6P6A4 Q6ZMZ0 Q8N2S8 Q8WUF3 RN19B_HUMAN uc010ohp.1 uc010ohp.2 uc010ohp.3 uc010ohp.4 This gene encodes a multi-pass membrane protein containing two RING-type and one IBR-type zinc finger motifs. The encoded protin is an E3 ubiquitin-protein ligase that plays a role in the cytotoxic effects of natural killer (NK) cells. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes X and Y in a possible pseudoautosomal region. [provided by RefSeq, Jul 2014]. E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as UCKL1. Involved in the cytolytic activity of natural killer cells and cytotoxic T-cells. Protein modification; protein ubiquitination. Interacts with UBE2L3, UBE2L6 and UCKL1. P68036:UBE2L3; NbExp=2; IntAct=EBI-2466594, EBI-711173; O14933:UBE2L6; NbExp=3; IntAct=EBI-2466594, EBI-2129974; Q9NWZ5:UCKL1; NbExp=4; IntAct=EBI-2466594, EBI-2466660; Cytoplasmic granule membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q6ZMZ0-1; Sequence=Displayed; Name=2; IsoId=Q6ZMZ0-2; Sequence=VSP_028635, VSP_028633, VSP_028634; Name=3; IsoId=Q6ZMZ0-3; Sequence=VSP_028632, VSP_028635, VSP_028633, VSP_028634; Note=No experimental confirmation available; Name=4; IsoId=Q6ZMZ0-4; Sequence=VSP_028635; Expressed specifically in natural killer cells, activated macrophages and cytotoxic T-cells. Present in natural killer cells (at protein level). In natural killer cells, by IFNB1/IFN-beta and IL2/interleukin-2 (at protein level). The first IBR-type zinc finger is the most crucial for interaction with UBE2L3, UBE2L6 and UCKL1. Belongs to the RBR family. RNF19 subfamily. Contains 1 IBR-type zinc finger. Contains 2 RING-type zinc fingers. Sequence=AAI13561.1; Type=Erroneous initiation; Sequence=CAI19336.1; Type=Erroneous initiation; Sequence=EAX07490.1; Type=Erroneous initiation; ubiquitin ligase complex protein polyubiquitination adaptive immune response immune system process ubiquitin-protein transferase activity protein binding cytoplasm endoplasmic reticulum endoplasmic reticulum membrane cytosol ubiquitin-dependent protein catabolic process membrane integral component of membrane protein ubiquitination transferase activity ubiquitin conjugating enzyme binding positive regulation of proteasomal ubiquitin-dependent protein catabolic process ubiquitin binding cytolytic granule metal ion binding protein autoubiquitination ubiquitin protein ligase activity uc010ohp.1 uc010ohp.2 uc010ohp.3 uc010ohp.4 
ENST00000235307.7 C1orf21 ENST00000235307.7 Homo sapiens chromosome 1 open reading frame 21 (C1orf21), mRNA. (from RefSeq NM_030806) B2R551 CA021_HUMAN ENST00000235307.1 ENST00000235307.2 ENST00000235307.3 ENST00000235307.4 ENST00000235307.5 ENST00000235307.6 NM_030806 PIG13 Q9H246 uc001gqv.1 uc001gqv.2 uc001gqv.3 Expressed in spleen, prostate, testis and uterus. protein binding uc001gqv.1 uc001gqv.2 uc001gqv.3 
ENST00000235310.7 MAD2L2 ENST00000235310.7 Adapter protein able to interact with different proteins and involved in different biological processes. Mediates the interaction between the error-prone DNA polymerase zeta catalytic subunit REV3L and the inserter polymerase REV1, thereby mediating the second polymerase switching in translesion DNA synthesis. Translesion DNA synthesis releases the replication blockade of replicative polymerases, stalled in presence of DNA lesions. May also regulate another aspect of cellular response to DNA damage through regulation of the JNK-mediated phosphorylation and activation of the transcriptional activator ELK1. Inhibits the FZR1- and probably CDC20-mediated activation of the anaphase promoting complex APC thereby regulating progression through the cell cycle. Regulates TCF7L2-mediated gene transcription and may play a role in epithelial-mesenchymal transdifferentiation. (from UniProt Q9UI95) AK094316 B3KNE3 ENST00000235310.1 ENST00000235310.2 ENST00000235310.3 ENST00000235310.4 ENST00000235310.5 ENST00000235310.6 MAD2B MD2L2_HUMAN Q5TGW7 Q9UI95 Q9UNA7 Q9Y6I6 REV7 uc001asq.1 uc001asq.2 uc001asq.3 uc001asq.4 uc001asq.5 Adapter protein able to interact with different proteins and involved in different biological processes. Mediates the interaction between the error-prone DNA polymerase zeta catalytic subunit REV3L and the inserter polymerase REV1, thereby mediating the second polymerase switching in translesion DNA synthesis. Translesion DNA synthesis releases the replication blockade of replicative polymerases, stalled in presence of DNA lesions. May also regulate another aspect of cellular response to DNA damage through regulation of the JNK-mediated phosphorylation and activation of the transcriptional activator ELK1. Inhibits the FZR1- and probably CDC20-mediated activation of the anaphase promoting complex APC thereby regulating progression through the cell cycle. Regulates TCF7L2-mediated gene transcription and may play a role in epithelial-mesenchymal transdifferentiation. Homooligomer (Probable). Interacts with REV1. Interacts with ADAM9. Interacts with CHAMP1. Interacts with REV3L. Interacts with FZR1 (in complex with the anaphase promoting complex APC). Interacts with CDC20; PubMed:11459825 could not detect the interaction. Interacts with RAN. Interacts with ELK1; the interaction is direct and recruits MAD2L2 to ELK1-specific promoters. May interact with the JNK kinases MAPK8 and/or MAPK9 to stimulate ELK1 phosphorylation and transcriptional activity upon DNA damage. Interacts with TCF7L2; prevents its binding to promoters and negatively modulates its transcriptional activity. Interacts with YY1AP1. Interacts with S.flexneri protein ipaB; prevents the interaction of MAD2L2 with FZR1 and CDC20 resulting in an activation of the anaphase-promoting complex APC and a cell cycle arrest. Interacts with PRCC; the interaction is direct. Interacts with POGZ. Q13443:ADAM9; NbExp=3; IntAct=EBI-77889, EBI-77903; Q12834:CDC20; NbExp=2; IntAct=EBI-77889, EBI-367462; P30260:CDC27; NbExp=2; IntAct=EBI-77889, EBI-994813; Q9UM11:FZR1; NbExp=2; IntAct=EBI-77889, EBI-724997; P18011:ipaB (xeno); NbExp=7; IntAct=EBI-77889, EBI-490239; Nucleus. Cytoplasm, cytoskeleton, spindle. Cytoplasm. Ubiquitously expressed. Contains 1 HORMA domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mad2l2/"; negative regulation of transcription from RNA polymerase II promoter RNA polymerase II activating transcription factor binding regulation of cell growth protein binding nucleus nucleoplasm chromosome nucleolus cytoplasm spindle cytosol cytoskeleton DNA repair double-strand break repair cellular response to DNA damage stimulus actin filament organization cell cycle mitotic spindle assembly checkpoint JUN kinase binding negative regulation of epithelial to mesenchymal transition negative regulation of transcription by competitive promoter binding zeta DNA polymerase complex positive regulation of peptidyl-serine phosphorylation site of double-strand break negative regulation of protein catabolic process error-prone translesion synthesis DNA damage response, signal transduction resulting in transcription negative regulation of sequence-specific DNA binding transcription factor activity positive regulation of isotype switching positive regulation of transcription, DNA-templated cell division negative regulation of canonical Wnt signaling pathway negative regulation of ubiquitin protein ligase activity negative regulation of double-strand break repair via homologous recombination negative regulation of cell-cell adhesion mediated by cadherin negative regulation of transcription regulatory region DNA binding positive regulation of double-strand break repair via nonhomologous end joining anaphase-promoting complex uc001asq.1 uc001asq.2 uc001asq.3 uc001asq.4 uc001asq.5 
ENST00000235332.6 MIIP ENST00000235332.6 Homo sapiens migration and invasion inhibitory protein (MIIP), mRNA. (from RefSeq NM_021933) C0KL22 ENST00000235332.1 ENST00000235332.2 ENST00000235332.3 ENST00000235332.4 ENST00000235332.5 IIP45 MIIP_HUMAN NM_021933 Q5JXC2 Q96HU6 Q9H839 Q9HA00 uc001ato.1 uc001ato.2 uc001ato.3 uc001ato.4 This gene encodes a protein that interacts with the oncogene protein insulin-like growth factor binding protein 2 and may function as an inhibitor of cell migration and invasion. This protein also interacts with the cell division protein 20 and may be involved in regulating mitotic progression. This protein may function as a tumor suppressor by inhibiting the growth or certain cancers. [provided by RefSeq, Sep 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.769016.1, FJ618905.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000235332.6/ ENSP00000235332.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Inhibits glioma cells invasion and down-regulates adhesion- and motility-associated genes such as NFKB2 and ICAM1. Exhibits opposing effects to IGFBP2 on cell invasion. Interacts with IGFBP2. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q5JXC2-1; Sequence=Displayed; Name=2; Synonyms=IIP45S; IsoId=Q5JXC2-2; Sequence=VSP_032214; Ubiquitous. Isoform 1 is expressed in brain but underexpressed in glioma tissues, at protein level. Isoform 2 is not detected in normal organs, but is expressed in gliomas with increasing levels with glioma progression. On the contrary, at protein level, isoform 2 is not detected in gliomas, suggesting that this isoform is unstable in glioma cells. Up-regulated by IGFBP2. Isoform 2 is degraded by the ubiquitin-proteasome pathway. protein binding negative regulation of G2/M transition of mitotic cell cycle negative regulation of cell migration uc001ato.1 uc001ato.2 uc001ato.3 uc001ato.4 
ENST00000235345.6 SLC35D1 ENST00000235345.6 Homo sapiens solute carrier family 35 member D1 (SLC35D1), mRNA. (from RefSeq NM_015139) A8K185 ENST00000235345.1 ENST00000235345.2 ENST00000235345.3 ENST00000235345.4 ENST00000235345.5 KIAA0260 NM_015139 Q52LU5 Q92548 Q9NTN3 S35D1_HUMAN UGTREL7 uc001ddk.1 uc001ddk.2 uc001ddk.3 uc001ddk.4 Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment, and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. The protein encoded by this gene resides in the ER, and transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to the ER lumen. It may participate in glucuronidation and/or chondroitin sulfate biosynthesis. Mutations in this gene are associated with Schneckenbecken dysplasia.[provided by RefSeq, Sep 2009]. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.12470.1, SRR1660809.38849.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000235345.6/ ENSP00000235345.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Transports both UDP-glucuronic acid (UDP-GlcA) and UDP- N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to into the endoplasmic reticulum lumen. May participate in glucuronidation and/or chondroitin sulfate biosynthesis. Endoplasmic reticulum membrane; Multi-pass membrane protein. Ubiquitous. Defects in SLC35D1 are a cause of Schneckenbecken dysplasia (SCHBCKD) [MIM:269250]. Schneckenbecken dysplagia is a rare, autosomal recessive, lethal short-limbed skeletal dysplasia with platyspondylia. Belongs to the TPT transporter family. SLC35D subfamily. Sequence=BAA13390.1; Type=Erroneous initiation; Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; UDP-glucuronic acid transmembrane transporter activity UDP-N-acetylglucosamine transmembrane transporter activity UDP-N-acetylgalactosamine transmembrane transporter activity endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus UDP-glucuronate biosynthetic process carbohydrate transport pyrimidine nucleotide-sugar transmembrane transporter activity antiporter activity UDP-glucuronic acid transport UDP-N-acetylgalactosamine transport membrane integral component of membrane transmembrane transporter activity chondroitin sulfate biosynthetic process embryonic skeletal system development pyrimidine nucleotide-sugar transmembrane transport UDP-N-acetylglucosamine transmembrane transport uc001ddk.1 uc001ddk.2 uc001ddk.3 uc001ddk.4 
ENST00000235347.4 PRAMEF10 ENST00000235347.4 Homo sapiens PRAME family member 10 (PRAMEF10), mRNA. (from RefSeq NM_001039361) ENST00000235347.1 ENST00000235347.2 ENST00000235347.3 NM_001039361 O60809 PRA10_HUMAN Q2M1V2 uc031tpi.1 uc031tpi.2 Belongs to the PRAME family. Contains 2 LRR (leucine-rich) repeats. Sequence=CAA17876.1; Type=Erroneous gene model prediction; cytoplasm positive regulation of cell proliferation negative regulation of apoptotic process negative regulation of cell differentiation negative regulation of transcription, DNA-templated uc031tpi.1 uc031tpi.2 
ENST00000235349.6 PRAMEF4 ENST00000235349.6 Homo sapiens PRAME family member 4 (PRAMEF4), mRNA. (from RefSeq NM_001009611) ENST00000235349.1 ENST00000235349.2 ENST00000235349.3 ENST00000235349.4 ENST00000235349.5 NM_001009611 O60810 PRAM4_HUMAN Q5LJB5 uc001aun.1 uc001aun.2 uc001aun.3 uc001aun.4 Belongs to the PRAME family. Contains 6 LRR (leucine-rich) repeats. Sequence=CAB41253.1; Type=Erroneous initiation; cytoplasm positive regulation of cell proliferation negative regulation of apoptotic process negative regulation of cell differentiation negative regulation of transcription, DNA-templated uc001aun.1 uc001aun.2 uc001aun.3 uc001aun.4 
ENST00000235382.7 RGS2 ENST00000235382.7 Homo sapiens regulator of G protein signaling 2 (RGS2), mRNA. (from RefSeq NM_002923) ENST00000235382.1 ENST00000235382.2 ENST00000235382.3 ENST00000235382.4 ENST00000235382.5 ENST00000235382.6 G0S8 GIG31 NM_002923 P41220 Q6I9U5 RGS2_HUMAN uc001gsl.1 uc001gsl.2 uc001gsl.3 uc001gsl.4 uc001gsl.5 Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 2 belongs to this family. The protein acts as a mediator of myeloid differentiation and may play a role in leukemogenesis. [provided by RefSeq, Aug 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1095256.1, SRR3476690.817888.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000235382.7/ ENSP00000235382.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. May play a role in leukemogenesis. Plays a role in negative feedback control pathway for adenylyl cyclase signaling. Binds EIF2B5 and blocks its activity, thereby inhibiting the translation of mRNA into protein. Interacts with EIF2B5. Interacts with PRKG1 (isoform alpha). Isoform 1: Cell membrane. Cytoplasm. Nucleus, nucleolus. Isoform 2: Cell membrane. Cytoplasm. Nucleus, nucleolus. Isoform 3: Cell membrane. Cytoplasm. Nucleus, nucleolus. Isoform 4: Cell membrane. Mitochondrion. Event=Alternative initiation; Named isoforms=4; Name=1; IsoId=P41220-1; Sequence=Displayed; Name=2; IsoId=P41220-2; Sequence=VSP_041296; Name=3; IsoId=P41220-3; Sequence=VSP_041297; Note=Lacks type V adenylyl cyclase (AC) inhibitory function; Name=4; IsoId=P41220-4; Sequence=VSP_041298; Note=Lacks type V adenylyl cyclase (AC) inhibitory function; Expressed in acute myelogenous leukemia (AML) and in acute lymphoblastic leukemia (ALL). Phosphorylated by protein kinase C. Phosphorylation by PRKG1 leads to activation of RGS2 activity. Contains 1 RGS domain. G-protein alpha-subunit binding response to amphetamine GTPase activity GTPase activator activity protein binding calmodulin binding nucleus nucleolus cytoplasm mitochondrion cytosol plasma membrane regulation of translation cell cycle G-protein coupled receptor signaling pathway spermatogenesis brain development regulation of G-protein coupled receptor protein signaling pathway cytoplasmic side of plasma membrane negative regulation of signal transduction negative regulation of phospholipase activity negative regulation of cardiac muscle hypertrophy positive regulation of neuron projection development membrane negative regulation of translation ovulation neuron projection negative regulation of MAP kinase activity positive regulation of GTPase activity negative regulation of cAMP-mediated signaling response to ethanol negative regulation of G-protein coupled receptor protein signaling pathway beta-tubulin binding brown fat cell differentiation relaxation of cardiac muscle relaxation of vascular smooth muscle maternal process involved in female pregnancy positive regulation of cardiac muscle contraction negative regulation of cell growth involved in cardiac muscle cell development negative regulation of glycine import uc001gsl.1 uc001gsl.2 uc001gsl.3 uc001gsl.4 uc001gsl.5 
ENST00000235521.5 WARS2 ENST00000235521.5 Homo sapiens tryptophanyl tRNA synthetase 2, mitochondrial (WARS2), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_015836) B1ALR1 B2R9D4 ENST00000235521.1 ENST00000235521.2 ENST00000235521.3 ENST00000235521.4 NM_015836 Q53FT4 Q5VUD2 Q86TQ0 Q9UGM6 SYWM_HUMAN uc001ehn.1 uc001ehn.2 uc001ehn.3 uc001ehn.4 uc001ehn.5 Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. ATP + L-tryptophan + tRNA(Trp) = AMP + diphosphate + L-tryptophyl-tRNA(Trp). Mitochondrion matrix. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UGM6-1; Sequence=Displayed; Name=2; IsoId=Q9UGM6-2; Sequence=VSP_041414, VSP_041415; Belongs to the class-I aminoacyl-tRNA synthetase family. nucleotide binding vasculogenesis aminoacyl-tRNA ligase activity tryptophan-tRNA ligase activity ATP binding mitochondrion mitochondrial matrix cytosol plasma membrane translation tRNA aminoacylation for protein translation tryptophanyl-tRNA aminoacylation ligase activity mitochondrial tryptophanyl-tRNA aminoacylation uc001ehn.1 uc001ehn.2 uc001ehn.3 uc001ehn.4 uc001ehn.5 
ENST00000235532.9 OSCP1 ENST00000235532.9 Homo sapiens organic solute carrier partner 1 (OSCP1), transcript variant 1, mRNA. (from RefSeq NM_145047) A6NHM5 A6NHS9 A6NIN9 C1orf102 ENST00000235532.1 ENST00000235532.2 ENST00000235532.3 ENST00000235532.4 ENST00000235532.5 ENST00000235532.6 ENST00000235532.7 ENST00000235532.8 NM_145047 NOR1 OSCP1_HUMAN Q4AEJ0 Q8N7G2 Q8TDF1 Q8WVF1 uc001caq.1 uc001caq.2 uc001caq.3 uc001caq.4 May be involved in drug clearance in the placenta. Kinetic parameters: KM=35.0 uM for p-aminohippurate (PAH); KM=62.3 uM for tetraethylammonium; Note=In Xenopus laevis oocytes, in a sodium-independent manner; Basal cell membrane. Note=Syncytiotrophoblast in placenta. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q8WVF1-1; Sequence=Displayed; Name=2; IsoId=Q8WVF1-2; Sequence=VSP_020826; Note=No experimental confirmation available; Name=3; IsoId=Q8WVF1-3; Sequence=VSP_039475; Name=4; IsoId=Q8WVF1-4; Sequence=VSP_039475, VSP_039476, VSP_039477; Expressed predominantly in testis, also found in placenta and to a lesser extent in thymus and small intestine; abundantly expressed in tumor-derived cell lines (PubMed:16006562). Ubiquitously expressed (PubMed:12819961). May be involved in the development and/or progression of nosopharyngeal carcinoma. The polymorphism 'Glu58Gly' (described in PubMed:12819961) is in fact an error, the G to A change described representing a synonymous mutation that does not induce any amino acid change in Gly-32. Sequence=AAL89738.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; cytoplasm plasma membrane basal plasma membrane membrane transmembrane transporter activity drug transmembrane export uc001caq.1 uc001caq.2 uc001caq.3 uc001caq.4 
ENST00000235628.2 NT5C1A ENST00000235628.2 Homo sapiens 5'-nucleotidase, cytosolic IA (NT5C1A), mRNA. (from RefSeq NM_032526) 5NT1A_HUMAN ENST00000235628.1 NM_032526 Q3SYB9 Q5TG98 Q9BWT8 Q9BXI3 uc001cdq.1 uc001cdq.2 Cytosolic nucleotidases, such as NT5C1A, dephosphorylate nucleoside monophosphates (Hunsucker et al., 2001 [PubMed 11133996]).[supplied by OMIM, Mar 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC103879.1, AF331801.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145544, SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Dephosphorylates the 5' and 2'(3')-phosphates of deoxyribonucleotides and has a broad substrate specificity. Helps to regulate adenosine levels in heart during ischemia and hypoxia. A 5'-ribonucleotide + H(2)O = a ribonucleoside + phosphate. Magnesium. Activated by ADP. Cytoplasm. Highly expressed in skeletal muscle. Detected at intermediate levels in heart, brain, kidney and pancreas. Belongs to the 5'-nucleotidase type 3 family. nucleotide binding magnesium ion binding protein binding cytoplasm cytosol purine nucleotide catabolic process 5'-nucleotidase activity nucleoside metabolic process nucleotide metabolic process purine nucleoside monophosphate catabolic process dephosphorylation hydrolase activity adenosine metabolic process pyrimidine nucleoside catabolic process uc001cdq.1 uc001cdq.2 
ENST00000235835.8 AKR7A2 ENST00000235835.8 Homo sapiens aldo-keto reductase family 7 member A2 (AKR7A2), transcript variant 1, mRNA. (from RefSeq NM_003689) ENST00000235835.1 ENST00000235835.2 ENST00000235835.3 ENST00000235835.4 ENST00000235835.5 ENST00000235835.6 ENST00000235835.7 NM_003689 V9HWA2 uc001bbw.1 uc001bbw.2 uc001bbw.3 uc001bbw.4 uc001bbw.5 The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: EU794591.1, BK000395.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## uc001bbw.1 uc001bbw.2 uc001bbw.3 uc001bbw.4 uc001bbw.5 
ENST00000236051.3 EBNA1BP2 ENST00000236051.3 Homo sapiens EBNA1 binding protein 2 (EBNA1BP2), transcript variant 2, mRNA. (from RefSeq NM_006824) EBP2 EBP2_HUMAN ENST00000236051.1 ENST00000236051.2 NM_006824 Q96A66 Q99848 uc001cin.1 uc001cin.2 uc001cin.3 uc001cin.4 uc001cin.5 Required for the processing of the 27S pre-rRNA (By similarity). Specifically interacts with EBV EBNA1. The EBNA1-EBP2 interaction is important for the stable segregation of EBV episomes during cell division. Nucleus, nucleolus. Note=Associated with the nucleolus in an RNA-dependent manner. Ubiquitous. Belongs to the EBP2 family. RNA binding protein binding nucleus nucleolus rRNA processing preribosome, large subunit precursor nuclear periphery ribosome biogenesis ribosomal large subunit biogenesis uc001cin.1 uc001cin.2 uc001cin.3 uc001cin.4 uc001cin.5 
ENST00000236137.10 SLC19A2 ENST00000236137.10 Homo sapiens solute carrier family 19 member 2 (SLC19A2), transcript variant 1, mRNA. (from RefSeq NM_006996) B2R9H0 B4E1X4 ENST00000236137.1 ENST00000236137.2 ENST00000236137.3 ENST00000236137.4 ENST00000236137.5 ENST00000236137.6 ENST00000236137.7 ENST00000236137.8 ENST00000236137.9 NM_006996 O60779 Q8WV87 Q9UBL7 Q9UKJ2 Q9UN31 Q9UN43 S19A2_HUMAN THT1 TRMA uc001gge.1 uc001gge.2 uc001gge.3 uc001gge.4 uc001gge.5 uc001gge.6 This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]. High-affinity transporter for the intake of thiamine. Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O60779-1; Sequence=Displayed; Name=2; IsoId=O60779-2; Sequence=VSP_036467; Ubiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta, heart, liver and kidney, low in lung. Defects in SLC19A2 are the cause of thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]; also known as Rogers syndrome. TRMA is an autosomal recessive disease with features that include megaloblastic anemia, mild thrombocytopenia and leucopenia, sensorineural deafness and diabetes mellitus. Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family. Sequence=BAG64936.1; Type=Erroneous initiation; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC19A2"; protein binding plasma membrane folic acid transporter activity thiamine transmembrane transporter activity folic acid transport thiamine transport membrane integral component of membrane thiamine-containing compound metabolic process vitamin transport transmembrane transport thiamine transmembrane transport vitamin transmembrane transporter activity uc001gge.1 uc001gge.2 uc001gge.3 uc001gge.4 uc001gge.5 uc001gge.6 
ENST00000236192.12 VAMP4 ENST00000236192.12 Homo sapiens vesicle associated membrane protein 4 (VAMP4), transcript variant 1, mRNA. (from RefSeq NM_003762) ENST00000236192.1 ENST00000236192.10 ENST00000236192.11 ENST00000236192.2 ENST00000236192.3 ENST00000236192.4 ENST00000236192.5 ENST00000236192.6 ENST00000236192.7 ENST00000236192.8 ENST00000236192.9 NM_003762 Q6IAZ3 Q6IAZ3_HUMAN RP4-560B9.3-004 hCG_37824 uc001ghx.1 uc001ghx.2 uc001ghx.3 uc001ghx.4 Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. This protein may play a role in trans-Golgi network-to-endosome transport. [provided by RefSeq, Jul 2008]. Contains 1 v-SNARE coiled-coil homology domain. synaptic vesicle membrane integral component of membrane synaptic vesicle to endosome fusion vesicle-mediated transport integral component of synaptic vesicle membrane regulation of synaptic vesicle endocytosis uc001ghx.1 uc001ghx.2 uc001ghx.3 uc001ghx.4 
ENST00000236273.9 SYF2 ENST00000236273.9 Homo sapiens SYF2 pre-mRNA splicing factor (SYF2), transcript variant 1, mRNA. (from RefSeq NM_015484) CBPIN ENST00000236273.1 ENST00000236273.2 ENST00000236273.3 ENST00000236273.4 ENST00000236273.5 ENST00000236273.6 ENST00000236273.7 ENST00000236273.8 GCIPIP NM_015484 O95926 Q5TH73 SYF2_HUMAN uc001bjt.1 uc001bjt.2 uc001bjt.3 This gene encodes a nuclear protein that interacts with cyclin D-type binding-protein 1, which is thought to be a cell cycle regulator at the G1/S transition. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. May be involved in pre-mRNA splicing (By similarity). Identified in the spliceosome C complex. Interacts with CCNDBP1. Nucleus. Abundantly expressed in the heart, skeletal muscle and kidney. Expressed at lower level other tissues. Belongs to the SYF2 family. Sequence=CAI21417.1; Type=Erroneous gene model prediction; mRNA splicing, via spliceosome Prp19 complex in utero embryonic development RNA binding protein binding nucleus nucleoplasm spliceosomal complex mRNA processing mitotic G2 DNA damage checkpoint gastrulation positive regulation of cell proliferation RNA splicing nuclear speck embryonic organ development U2-type catalytic step 2 spliceosome catalytic step 2 spliceosome post-mRNA release spliceosomal complex uc001bjt.1 uc001bjt.2 uc001bjt.3 
ENST00000236342.12 DHDDS ENST00000236342.12 Homo sapiens dehydrodolichyl diphosphate synthase subunit (DHDDS), transcript variant 1, mRNA. (from RefSeq NM_205861) D3DPK7 D3DPK8 D3DPK9 DHDDS_HUMAN E9KL43 ENST00000236342.1 ENST00000236342.10 ENST00000236342.11 ENST00000236342.2 ENST00000236342.3 ENST00000236342.4 ENST00000236342.5 ENST00000236342.6 ENST00000236342.7 ENST00000236342.8 ENST00000236342.9 HDS NM_205861 Q5T0A4 Q86SQ9 Q8NE90 Q9BTG5 Q9BTK3 Q9H905 uc001bml.1 uc001bml.2 uc001bml.3 uc001bml.4 uc001bml.5 The protein encoded by this gene catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. Mutations in this gene are associated with retinitis pigmentosa type 59. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]. Catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier-lipid required for the biosynthesis of several classes of glycoprotein. Protein modification; protein glycosylation. Interacts with NUS1/NgBR, the interaction is required for efficient activity. Interacts with NPC2. Endoplasmic reticulum membrane; Peripheral membrane protein. Note=colocalizes with calnexin. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q86SQ9-1; Sequence=Displayed; Name=2; IsoId=Q86SQ9-2; Sequence=VSP_010031; Name=3; IsoId=Q86SQ9-3; Sequence=VSP_010030; Note=May be due to exon skipping; Expressed at high levels in testis and kidney. Expressed in epididymis (at protein level). Slightly expressed in heart, spleen and thymus. Defects in DHDDS are the cause of retinitis pigmentosa type 59 (RP59) [MIM:613861]. RP59 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Belongs to the UPP synthase family. polyprenyltransferase activity protein binding endoplasmic reticulum endoplasmic reticulum membrane protein glycosylation dolichyl diphosphate biosynthetic process lipid metabolic process membrane polyprenol biosynthetic process transferase activity transferase activity, transferring alkyl or aryl (other than methyl) groups dehydrodolichyl diphosphate synthase activity dehydrodolichyl diphosphate synthase complex uc001bml.1 uc001bml.2 uc001bml.3 uc001bml.4 uc001bml.5 
ENST00000236671.7 CTSD ENST00000236671.7 Homo sapiens cathepsin D (CTSD), mRNA. (from RefSeq NM_001909) ENST00000236671.1 ENST00000236671.2 ENST00000236671.3 ENST00000236671.4 ENST00000236671.5 ENST00000236671.6 NM_001909 V9HWI3 uc001luc.1 uc001luc.2 uc001luc.3 This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.350777.1, SRR3476690.959075.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000236671.7/ ENSP00000236671.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## uc001luc.1 uc001luc.2 uc001luc.3 
ENST00000236709.4 A4GNT ENST00000236709.4 Homo sapiens alpha-1,4-N-acetylglucosaminyltransferase (A4GNT), mRNA. (from RefSeq NM_016161) A4GCT_HUMAN ENST00000236709.1 ENST00000236709.2 ENST00000236709.3 NM_016161 Q0VDK1 Q0VDK2 Q9UNA3 uc003ers.1 uc003ers.2 uc003ers.3 This gene encodes a protein from the glycosyltransferase 32 family. The enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans. It forms a unique glycan, GlcNAcalpha1-->4Galbeta-->R and is largely associated with the Golgi apparatus membrane. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: AK225668.1, AF141315.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142586, SAMEA2146982 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000236709.4/ ENSP00000236709.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Necessary for the synthesis of type III mucin. Catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O- glycans. Protein modification; protein glycosylation. Golgi apparatus membrane; Single-pass type II membrane protein (Probable). Detected in stomach and pancreas. The conserved DXD motif is involved in enzyme activity (By similarity). Belongs to the glycosyltransferase 32 family. Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; Name=Functional Glycomics Gateway - GTase; Note=Alpha-1,4-N-acetylglucosaminyltransferase; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_532"; Golgi membrane Golgi apparatus carbohydrate metabolic process protein glycosylation protein O-linked glycosylation acetylglucosaminyltransferase activity glycoprotein biosynthetic process membrane integral component of membrane O-glycan processing transferase activity transferase activity, transferring glycosyl groups negative regulation of epithelial cell proliferation uc003ers.1 uc003ers.2 uc003ers.3 
ENST00000236826.8 MMP8 ENST00000236826.8 Homo sapiens matrix metallopeptidase 8 (MMP8), transcript variant 1, mRNA. (from RefSeq NM_002424) CLG1 ENST00000236826.1 ENST00000236826.2 ENST00000236826.3 ENST00000236826.4 ENST00000236826.5 ENST00000236826.6 ENST00000236826.7 MMP8_HUMAN NM_002424 P22894 Q45F99 uc001phe.1 uc001phe.2 uc001phe.3 This gene encodes a member of the matrix metalloproteinase (MMP) family of proteins. These proteins are involved in the breakdown of extracellular matrix in embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Proteolysis at different sites on this protein results in multiple active forms of the enzyme with distinct N-termini. This protein functions in the degradation of type I, II and III collagens. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. Can degrade fibrillar type I, II, and III collagens. Cleavage of interstitial collagens in the triple helical domain. Unlike EC 3.4.24.7, this enzyme cleaves type III collagen more slowly than type I. Binds 3 calcium ions per subunit. Binds 2 zinc ions per subunit. Cannot be activated without removal of the activation peptide. Cytoplasmic granule. Secreted, extracellular space, extracellular matrix (Probable). Note=Stored in intracellular granules. Neutrophils. The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme. Belongs to the peptidase M10A family. Contains 4 hemopexin-like domains. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mmp8/"; endopeptidase activity metalloendopeptidase activity serine-type endopeptidase activity extracellular region extracellular space proteolysis peptidase activity metallopeptidase activity zinc ion binding positive regulation of gene expression negative regulation of gene expression hydrolase activity extracellular matrix disassembly extracellular matrix organization collagen catabolic process extracellular matrix negative regulation of interleukin-10 production positive regulation of interleukin-6 production specific granule lumen endodermal cell differentiation neutrophil degranulation positive regulation of DNA binding positive regulation of MAPK cascade positive regulation of nitric oxide biosynthetic process positive regulation of JNK cascade metal ion binding positive regulation of NIK/NF-kappaB signaling positive regulation of reactive oxygen species biosynthetic process regulation of microglial cell activation positive regulation of microglial cell activation positive regulation of tumor necrosis factor secretion tertiary granule lumen uc001phe.1 uc001phe.2 uc001phe.3 
ENST00000236850.5 APOA1 ENST00000236850.5 Homo sapiens apolipoprotein A1 (APOA1), transcript variant 4, mRNA. (from RefSeq NM_001318021) A8K866 APOA1_HUMAN ENST00000236850.1 ENST00000236850.2 ENST00000236850.3 ENST00000236850.4 NM_001318021 P02647 Q6LDN9 Q6Q785 Q9UCS8 Q9UCT8 uc001ppv.1 uc001ppv.2 uc001ppv.3 This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein. [provided by RefSeq, Dec 2015]. Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, activates spermatozoa motility. Interacts with APOA1BP and CLU. Component of a sperm activating protein complex (SPAP), consisting of APOA1, an immunoglobulin heavy chain, an immunoglobulin light chain and albumin. Interacts with NDRG1. P05067:APP; NbExp=5; IntAct=EBI-701692, EBI-77613; Secreted. Major protein of plasma HDL, also found in chylomicrons. Synthesized in the liver and small intestine. The oxidized form at Met-110 and Met-136 is increased in individuals with increased risk for coronary artery disease, such as in carrier of the eNOSa/b genotype and exposure to cigarette smoking. It is also present in increased levels in aortic lesions relative to native ApoA-I and increased levels are seen with increasing severity of disease. Palmitoylated. Met-110 and Met-136 are oxidized to methionine sulfoxides. Phosphorylation sites are present in the extracellular medium. Mass=28081; Method=Electrospray; Range=25-267; Note=Without methionine sulfoxide; Source=PubMed:12576517; Mass=28098; Method=Electrospray; Range=25-267; Note=With 1 methionine sulfoxide, oxidation at Met-110; Source=PubMed:12576517; Mass=28095; Method=Electrospray; Range=25-267; Note=With 1 methionine sulfoxide, oxidation at Met-136; Source=PubMed:12576517; Mass=28114; Method=Electrospray; Range=25-267; Note=With 2 methionine sulfoxides, oxidation at Met-110 and Met- 136; Source=PubMed:12576517; Defects in APOA1 are a cause of high density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]; also known as familial hypoalphalipoproteinemia (FHA). Inheritance is autosomal dominant. Defects in APOA1 are a cause of the low HDL levels observed in high density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]; also known as analphalipoproteinemia or Tangier disease (TGD). HDLD1 is a recessive disorder characterized by the absence of plasma HDL, accumulation of cholesteryl esters, premature coronary artery disease, hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness. In HDLD1 patients, ApoA-I fails to associate with HDL probably because of the faulty conversion of pro-ApoA-I molecules into mature chains, either due to a defect in the converting enzyme activity or a specific structural defect in Tangier ApoA-I. Note=A mutation in APOA1 is the cause of amyloid polyneuropathy-nephropathy Iowa type (AMYLIOWA); also known as amyloidosis van Allen type or familial amyloid polyneuropathy type III. AMYLIOWA is a hereditary generalized amyloidosis due to deposition of amyloid mainly constituted by apolipoprotein A1. The clinical picture is dominated by neuropathy in the early stages of the disease and nephropathy late in the course. Death is due in most cases to renal amyloidosis. Severe peptic ulcer disease can occurr in some and hearing loss is frequent. Cataracts is present in several, but vitreous opacities are not observed. Defects in APOA1 are a cause of amyloidosis type 8 (AMYL8) [MIM:105200]; also known as systemic non-neuropathic amyloidosis or Ostertag-type amyloidosis. AMYL8 is a hereditary generalized amyloidosis due to deposition of apolipoprotein A1, fibrinogen and lysozyme amyloids. Viscera are particularly affected. There is no involvement of the nervous system. Clinical features include renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. Belongs to the apolipoprotein A1/A4/E family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APOA1"; Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APOA1"; retinoid metabolic process beta-amyloid binding regulation of protein phosphorylation endothelial cell proliferation platelet degranulation negative regulation of cytokine secretion involved in immune response receptor binding lipid transporter activity protein binding phospholipid binding phospholipid transporter activity extracellular region extracellular space nucleus early endosome endoplasmic reticulum lumen cytosol plasma membrane lipid metabolic process phospholipid metabolic process phosphatidylcholine biosynthetic process cholesterol biosynthetic process lipid transport receptor-mediated endocytosis G-protein coupled receptor signaling pathway integrin-mediated signaling pathway response to nutrient high-density lipoprotein particle binding steroid metabolic process cholesterol metabolic process glucocorticoid metabolic process lipid binding cell surface negative regulation of tumor necrosis factor-mediated signaling pathway positive regulation of cholesterol esterification positive regulation of cholesterol efflux positive regulation of triglyceride catabolic process negative regulation of very-low-density lipoprotein particle remodeling peripheral nervous system axon regeneration cholesterol binding phospholipid transport protein oxidation peptidyl-methionine modification regulation of lipid metabolic process enzyme binding lipid storage endocytic vesicle regulation of intestinal cholesterol absorption cholesterol transport adrenal gland development heat shock protein binding animal organ regeneration phosphatidylcholine binding cytoplasmic vesicle regulation of Cdc42 protein signal transduction cholesterol efflux phospholipid efflux negative regulation of heterotypic cell-cell adhesion apolipoprotein receptor binding apolipoprotein A-I receptor binding very-low-density lipoprotein particle low-density lipoprotein particle intermediate-density lipoprotein particle high-density lipoprotein particle discoidal high-density lipoprotein particle spherical high-density lipoprotein particle chylomicron remodeling very-low-density lipoprotein particle remodeling high-density lipoprotein particle remodeling chylomicron assembly high-density lipoprotein particle assembly high-density lipoprotein particle clearance secretory granule lumen positive regulation of Rho protein signal transduction lipoprotein metabolic process lipoprotein biosynthetic process response to drug chylomicron cholesterol homeostasis identical protein binding blood vessel endothelial cell migration response to estrogen post-translational protein modification reverse cholesterol transport cellular protein metabolic process chemorepellent activity positive regulation of fatty acid biosynthetic process phosphatidylcholine metabolic process negative regulation of interleukin-1 beta secretion negative regulation of inflammatory response positive regulation of phagocytosis protein stabilization negative chemotaxis positive regulation of lipoprotein lipase activity vitamin transport positive regulation of hydrolase activity negative regulation of hydrolase activity positive regulation of stress fiber assembly transmembrane transport phospholipid homeostasis lipase inhibitor activity negative regulation of lipase activity phosphatidylcholine-sterol O-acyltransferase activator activity negative regulation of cell adhesion molecule production negative regulation of response to cytokine stimulus extracellular exosome triglyceride homeostasis cholesterol import high-density lipoprotein particle receptor binding endocytic vesicle lumen lipoprotein particle binding blood microparticle positive regulation of substrate adhesion-dependent cell spreading positive regulation of phospholipid efflux extracellular vesicle transforming growth factor beta receptor signaling pathway ERK1 and ERK2 cascade uc001ppv.1 uc001ppv.2 uc001ppv.3 
ENST00000236877.11 SLC8A2 ENST00000236877.11 Homo sapiens solute carrier family 8 member A2 (SLC8A2), mRNA. (from RefSeq NM_015063) B4DYQ9 ENST00000236877.1 ENST00000236877.10 ENST00000236877.2 ENST00000236877.3 ENST00000236877.4 ENST00000236877.5 ENST00000236877.6 ENST00000236877.7 ENST00000236877.8 ENST00000236877.9 KIAA1087 NAC2_HUMAN NCX2 NM_015063 Q9UPR5 uc002pgx.1 uc002pgx.2 uc002pgx.3 uc002pgx.4 uc002pgx.5 Rapidly transports Ca(2+) during excitation-contraction coupling. Ca(2+) is extruded from the cell during relaxation so as to prevent overloading of intracellular stores (By similarity). By ATP (By similarity). Membrane; Multi-pass membrane protein. Belongs to the sodium/potassium/calcium exchanger family. SLC8 subfamily. Contains 2 Calx-beta domains. Sequence=BAA83039.1; Type=Erroneous initiation; calcium:sodium antiporter activity calmodulin binding plasma membrane integral component of plasma membrane ion transport sodium ion transport calcium ion transport cellular calcium ion homeostasis cell communication learning memory antiporter activity membrane integral component of membrane basolateral plasma membrane dendrite sodium ion transmembrane transport cell projection dendritic spine perikaryon metal ion binding regulation of short-term neuronal synaptic plasticity transmembrane transport long-term synaptic potentiation calcium ion transmembrane transport regulation of cardiac conduction uc002pgx.1 uc002pgx.2 uc002pgx.3 uc002pgx.4 uc002pgx.5 
ENST00000236925.8 CAMSAP2 ENST00000236925.8 P29692:EEF1D; NbExp=2; IntAct=EBI-1051869, EBI-358607; (from UniProt Q08AD1) B1APG6 CAMP2_HUMAN CAMSAP1L1 ENST00000236925.1 ENST00000236925.2 ENST00000236925.3 ENST00000236925.4 ENST00000236925.5 ENST00000236925.6 ENST00000236925.7 KIAA1078 NM_001389638 Q08AD1 Q08AD2 Q6PGN8 Q96FB3 Q9UG20 Q9UPS4 uc001gvl.1 uc001gvl.2 uc001gvl.3 uc001gvl.4 P29692:EEF1D; NbExp=2; IntAct=EBI-1051869, EBI-358607; Cytoplasm, cytoskeleton (Potential). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q08AD1-1; Sequence=Displayed; Name=2; IsoId=Q08AD1-2; Sequence=VSP_030805, VSP_030806; Note=No experimental confirmation available; Name=3; IsoId=Q08AD1-3; Sequence=VSP_030805; Note=No experimental confirmation available; The CKK domain binds microtubules (By similarity). Belongs to the CAMSAP1 family. Contains 1 CH (calponin-homology) domain. Contains 1 CKK domain. Sequence=AAH56910.1; Type=Erroneous initiation; Note=Translation N-terminally extended; microtubule cytoskeleton organization protein binding calmodulin binding cytoplasm Golgi apparatus cytosol cytoskeleton microtubule negative regulation of microtubule depolymerization microtubule binding spectrin binding regulation of microtubule polymerization cytoplasmic microtubule organization neuron projection development regulation of organelle organization regulation of dendrite development microtubule minus-end binding axon development regulation of Golgi organization microtubule end centrosome microtubule minus-end uc001gvl.1 uc001gvl.2 uc001gvl.3 uc001gvl.4 
ENST00000236957.9 EEF1B2 ENST00000236957.9 Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA. (from RefSeq NM_021121) A8K795 EEF1B EF1B EF1B_HUMAN ENST00000236957.1 ENST00000236957.2 ENST00000236957.3 ENST00000236957.4 ENST00000236957.5 ENST00000236957.6 ENST00000236957.7 ENST00000236957.8 NM_021121 P24534 Q6IBH9 uc002vbg.1 uc002vbg.2 This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. Alternative splicing results in three transcript variants which differ only in the 5' UTR. [provided by RefSeq, Jul 2008]. EF-1-beta and EF-1-delta stimulate the exchange of GDP bound to EF-1-alpha to GTP. EF-1 is composed of 4 subunits: alpha, beta, delta, and gamma. P26641:EEF1G; NbExp=3; IntAct=EBI-354334, EBI-351467; Phosphorylation affects the GDP/GTP exchange rate. Belongs to the EF-1-beta/EF-1-delta family. Contains 1 GST C-terminal domain. translation elongation factor activity guanyl-nucleotide exchange factor activity protein binding cytoplasm cytosol eukaryotic translation elongation factor 1 complex translation translational elongation endoplasmic reticulum nucleus uc002vbg.1 uc002vbg.2 
ENST00000236959.14 ATIC ENST00000236959.14 Homo sapiens 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC), mRNA. (from RefSeq NM_004044) ENST00000236959.1 ENST00000236959.10 ENST00000236959.11 ENST00000236959.12 ENST00000236959.13 ENST00000236959.2 ENST00000236959.3 ENST00000236959.4 ENST00000236959.5 ENST00000236959.6 ENST00000236959.7 ENST00000236959.8 ENST00000236959.9 NM_004044 V9HWH7 uc002vex.1 uc002vex.2 uc002vex.3 uc002vex.4 uc002vex.5 uc002vex.6 This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660809.22572.1, SRR1803613.156414.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000236959.14/ ENSP00000236959.9 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## uc002vex.1 uc002vex.2 uc002vex.3 uc002vex.4 uc002vex.5 uc002vex.6 
ENST00000236979.2 TNP1 ENST00000236979.2 Homo sapiens transition protein 1 (TNP1), mRNA. (from RefSeq NM_003284) ENST00000236979.1 NM_003284 Q4ZG82 Q4ZG82_HUMAN hCG_16381 uc002vgk.1 uc002vgk.2 uc002vgk.3 uc002vgk.4 Transition protein-1 is a spermatid-specific product of the haploid genome which replaces histone and is itself replaced in the mature sperm by the protamines (see PRM1, MIM 182880; PRM2, MIM 182890) (Luerssen et al., 1990 [PubMed 2249851]).[supplied by OMIM, Mar 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BU569792.1, BP371302.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000236979.2/ ENSP00000236979.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## nucleosome nuclear nucleosome male germ cell nucleus DNA binding nucleus spermatogenesis positive regulation of protein processing spermatogenesis, exchange of chromosomal proteins uc002vgk.1 uc002vgk.2 uc002vgk.3 uc002vgk.4 
ENST00000237163.9 DOP1A ENST00000237163.9 DOP1A (from geneSymbol) DOPEY1 ENST00000237163.1 ENST00000237163.2 ENST00000237163.3 ENST00000237163.4 ENST00000237163.5 ENST00000237163.6 ENST00000237163.7 ENST00000237163.8 NM_001385863 Q5TA12 Q5TA12_HUMAN RP1-202D23.2-001 uc011dyy.1 uc011dyy.2 uc011dyy.3 Golgi membrane cytosol Golgi to endosome transport endoplasmic reticulum organization uc011dyy.1 uc011dyy.2 uc011dyy.3 
ENST00000237172.12 FILIP1 ENST00000237172.12 Homo sapiens filamin A interacting protein 1 (FILIP1), transcript variant 2, mRNA. (from RefSeq NM_015687) B2RMU6 ENST00000237172.1 ENST00000237172.10 ENST00000237172.11 ENST00000237172.2 ENST00000237172.3 ENST00000237172.4 ENST00000237172.5 ENST00000237172.6 ENST00000237172.7 ENST00000237172.8 ENST00000237172.9 FLIP1_HUMAN KIAA1275 NM_015687 Q5VUL6 Q7Z7B0 Q86TC3 Q8N8B9 Q96SK6 Q9NVI8 Q9ULE5 uc003pia.1 uc003pia.2 uc003pia.3 uc003pia.4 uc003pia.5 This gene encodes a filamin A binding protein. The encoded protein promotes the degradation of filamin A and may regulate cortical neuron migration and dendritic spine morphology. Mice lacking a functional copy of this gene exhibit reduced dendritic spine length and altered excitatory signaling. [provided by RefSeq, Oct 2016]. By acting through a filamin-A/F-actin axis, it controls the start of neocortical cell migration from the ventricular zone. May be able to induce the degradation of filamin-A (By similarity). Interacts with FLNA (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=L-FILIP; IsoId=Q7Z7B0-1; Sequence=Displayed; Name=2; IsoId=Q7Z7B0-2; Sequence=VSP_018345; Note=No experimental confirmation available; Name=3; Synonyms=S-FILIP; IsoId=Q7Z7B0-3; Sequence=VSP_018344; Moderately expressed in adult heart and brain. Weakly expressed in lung, skeletal muscle, ovary, testis, kidney, and fetal brain, and hardly detectable in liver, pancreas, spleen, and fetal liver. Within brain, moderate expression is found in amygdala and caudate nucleus. Belongs to the FILIP1 family. Sequence=BAA91763.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAH71818.1; Type=Erroneous gene model prediction; Sequence=CAH73614.1; Type=Erroneous gene model prediction; nucleolus cytoplasm cytoskeleton plasma membrane actin cytoskeleton uc003pia.1 uc003pia.2 uc003pia.3 uc003pia.4 uc003pia.5 
ENST00000237201.2 SPACA1 ENST00000237201.2 Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA. (from RefSeq NM_030960) ENST00000237201.1 NM_030960 Q9HBV2 SACA1_HUMAN SAMP32 uc003pmn.1 uc003pmn.2 uc003pmn.3 uc003pmn.4 The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from infertile males. Furthermore, antibodies generated against the recombinant protein block in vitro fertilization. This protein localizes to the acrosomal membrane of spermatids and mature spermatozoa where it is thought to play a role in acrosomal morphogenesis and in sperm-egg binding and fusion, respectively. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: AF203447.1, BC029488.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000237201.2/ ENSP00000237201.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## May be involved in sperm-egg fusion. Membrane; Single-pass type I membrane protein (Potential). Testis specific. At the equatorial segment and the inner acrosomal membrane of capacitated sperm. acrosome assembly inner acrosomal membrane acrosomal membrane spermatogenesis membrane integral component of membrane cytoplasmic vesicle uc003pmn.1 uc003pmn.2 uc003pmn.3 uc003pmn.4 
ENST00000237264.9 TBPL1 ENST00000237264.9 Homo sapiens TATA-box binding protein like 1 (TBPL1), transcript variant 2, mRNA. (from RefSeq NM_004865) A8K8F5 ENST00000237264.1 ENST00000237264.2 ENST00000237264.3 ENST00000237264.4 ENST00000237264.5 ENST00000237264.6 ENST00000237264.7 ENST00000237264.8 NM_004865 O95753 P62380 Q9BWD5 Q9Z2Z0 TBPL1_HUMAN TLF TLP TLP21 TRF2 TRP uc003qel.1 uc003qel.2 uc003qel.3 uc003qel.4 uc003qel.5 This gene encodes a member of the TATA box-binding protein family. TATA box-binding proteins play a critical role in transcription by RNA polymerase II as components of the transcription factor IID (TFIID) complex. The encoded protein does not bind to the TATA box and initiates transcription from TATA-less promoters. This gene plays a critical role in spermatogenesis, and single nucleotide polymorphisms in this gene may be associated with male infertility. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [provided by RefSeq, Nov 2011]. Does not bind the TATA box. Has DNA-binding ability. Binds TFIIA and TFIIB. Cytoplasm (By similarity). Nucleus (By similarity). Ubiquitously expressed, with highest levels in the testis and ovary. Belongs to the TBP family. RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II core promoter sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding acrosome assembly DNA binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity protein binding nucleus transcription factor complex transcription factor TFIIA complex cytoplasm dTTP biosynthetic process DNA-templated transcription, initiation transcription from RNA polymerase II promoter spermatogenesis spermatid nucleus differentiation transcription factor binding positive regulation of transcription from RNA polymerase II promoter uc003qel.1 uc003qel.2 uc003qel.3 uc003qel.4 uc003qel.5 
ENST00000237275.9 ZC2HC1B ENST00000237275.9 Homo sapiens zinc finger C2HC-type containing 1B (ZC2HC1B), mRNA. (from RefSeq NM_001013623) B2RUZ7 C6orf94 ENST00000237275.1 ENST00000237275.2 ENST00000237275.3 ENST00000237275.4 ENST00000237275.5 ENST00000237275.6 ENST00000237275.7 ENST00000237275.8 FAM164B NM_001013623 Q5TFG8 Q5TFG9 ZC21B_HUMAN uc010khk.1 uc010khk.2 uc010khk.3 uc010khk.4 uc010khk.5 Belongs to the ZC2HC1 family. Contains 1 C2HC-type zinc finger. Sequence=CAI21444.1; Type=Erroneous gene model prediction; Sequence=CAI21445.1; Type=Erroneous gene model prediction; metal ion binding uc010khk.1 uc010khk.2 uc010khk.3 uc010khk.4 uc010khk.5 
ENST00000237281.5 FBXO30 ENST00000237281.5 Homo sapiens F-box protein 30 (FBXO30), transcript variant 1, mRNA. (from RefSeq NM_032145) ENST00000237281.1 ENST00000237281.2 ENST00000237281.3 ENST00000237281.4 FBX30 FBX30_HUMAN NM_032145 Q8TB52 Q9BXZ7 uc003qla.1 uc003qla.2 uc003qla.3 uc003qla.4 uc003qla.5 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it is upregulated in nasopharyngeal carcinoma. [provided by RefSeq, Jul 2008]. Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex (By similarity). Directly interacts with SKP1 and CUL1 (By similarity). Contains 1 F-box domain. Contains 1 TRAF-type zinc finger. Sequence=AAK30299.1; Type=Erroneous initiation; Sequence=AAK30299.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part; protein polyubiquitination cytosol zinc ion binding protein ubiquitination post-translational protein modification metal ion binding ubiquitin protein ligase activity uc003qla.1 uc003qla.2 uc003qla.3 uc003qla.4 uc003qla.5 
ENST00000237283.9 ADAT2 ENST00000237283.9 Homo sapiens adenosine deaminase tRNA specific 2 (ADAT2), transcript variant 1, mRNA. (from RefSeq NM_182503) A6NL12 ADAT2_HUMAN B3KWY3 DEADC1 ENST00000237283.1 ENST00000237283.2 ENST00000237283.3 ENST00000237283.4 ENST00000237283.5 ENST00000237283.6 ENST00000237283.7 ENST00000237283.8 NM_182503 Q7Z327 Q7Z6V5 Q8IY39 uc003qjj.1 uc003qjj.2 uc003qjj.3 uc003qjj.4 uc003qjj.5 Probably participates in deamination of adenosine-34 to inosine in many tRNAs (By similarity). Zinc (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7Z6V5-1; Sequence=Displayed; Name=2; IsoId=Q7Z6V5-2; Sequence=VSP_025582; Belongs to the cytidine and deoxycytidylate deaminase family. ADAT2 subfamily. Sequence=AAH37955.2; Type=Erroneous initiation; tRNA wobble adenosine to inosine editing catalytic activity protein binding nucleoplasm tRNA modification tRNA processing tRNA-specific adenosine deaminase activity zinc ion binding hydrolase activity metal ion binding tRNA-specific adenosine-34 deaminase activity tRNA-specific adenosine-34 deaminase complex uc003qjj.1 uc003qjj.2 uc003qjj.3 uc003qjj.4 uc003qjj.5 
ENST00000237305.11 SGK1 ENST00000237305.11 Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA. (from RefSeq NM_005627) B7UUP7 B7UUP8 B7UUP9 B7Z5B2 E1P583 ENST00000237305.1 ENST00000237305.10 ENST00000237305.2 ENST00000237305.3 ENST00000237305.4 ENST00000237305.5 ENST00000237305.6 ENST00000237305.7 ENST00000237305.8 ENST00000237305.9 NM_005627 O00141 Q5TCN2 Q5TCN3 Q5TCN4 Q5VY65 Q9UN56 SGK SGK1_HUMAN uc003qen.1 uc003qen.2 uc003qen.3 uc003qen.4 uc003qen.5 This gene encodes a serine/threonine protein kinase that plays an important role in cellular stress response. This kinase activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. High levels of expression of this gene may contribute to conditions such as hypertension and diabetic nephropathy. Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]. Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cellular enzymes, transcription factors, neuronal excitability, cell growth, proliferation, survival, migration and apoptosis. Plays an important role in cellular stress response. Contributes to regulation of renal Na(+) retention, renal K(+) elimination, salt appetite, gastric acid secretion, intestinal Na(+)/H(+) exchange and nutrient transport, insulin-dependent salt sensitivity of blood pressure, salt sensitivity of peripheral glucose uptake, cardiac repolarization and memory consolidation. Up-regulates Na(+) channels: SCNN1A/ENAC, SCN5A and ASIC1/ACCN2, K(+) channels: KCNJ1/ROMK1, KCNA1-5, KCNQ1-5 and KCNE1, epithelial Ca(2+) channels: TRPV5 and TRPV6, chloride channels: BSND, CLCN2 and CFTR, glutamate transporters: SLC1A3/EAAT1, SLC1A2 /EAAT2, SLC1A1/EAAT3, SLC1A6/EAAT4 and SLC1A7/EAAT5, amino acid transporters: SLC1A5/ASCT2, SLC38A1/SN1 and SLC6A19, creatine transporter: SLC6A8, Na(+)/dicarboxylate cotransporter: SLC13A2/NADC1, Na(+)-dependent phosphate cotransporter: SLC34A2/NAPI-2B, glutamate receptor: GRIK2/GLUR6. Up-regulates carriers: SLC9A3/NHE3, SLC12A1/NKCC2, SLC12A3/NCC, SLC5A3/SMIT, SLC2A1/GLUT1, SLC5A1/SGLT1 and SLC15A2/PEPT2. Regulates enzymes: GSK3A/B, PMM2 and Na(+)/K(+) ATPase, and transcription factors: CTNNB1 and nuclear factor NF-kappa-B. Stimulates sodium transport into epithelial cells by enhancing the stability and expression of SCNN1A/ENAC. This is achieved by phosphorylating the NEDD4L ubiquitin E3 ligase, promoting its interaction with 14-3-3 proteins, thereby preventing it from binding to SCNN1A/ENAC and targeting it for degradation. Regulates store-operated Ca(+2) entry (SOCE) by stimulating ORAI1 and STIM1. Regulates KCNJ1/ROMK1 directly via its phosphorylation or indirectly via increased interaction with SLC9A3R2/NHERF2. Phosphorylates MDM2 and activates MDM2-dependent ubiquitination of p53/TP53. Phosphorylates MAPT/TAU and mediates microtubule depolymerization and neurite formation in hippocampal neurons. Phosphorylates SLC2A4/GLUT4 and up-regulates its activity. Phosphorylates APBB1/FE65 and promotes its localization to the nucleus. Phosphorylates MAPK1/ERK2 and activates it by enhancing its interaction with MAP2K1/MEK1 and MAP2K2/MEK2. Phosphorylates FBXW7 and plays an inhibitory role in the NOTCH1 signaling. Phosphorylates FOXO1 resulting in its relocalization from the nucleus to the cytoplasm. Phosphorylates FOXO3, promoting its exit from the nucleus and interference with FOXO3-dependent transcription. Phosphorylates BRAF and MAP3K3/MEKK3 and inhibits their activity. Phosphorylates SLC9A3/NHE3 in response to dexamethasone, resulting in its activation and increased localization at the cell membrane. Phosphorylates CREB1. Necessary for vascular remodeling during angiogenesis. Sustained high levels and activity may contribute to conditions such as hypertension and diabetic nephropathy. Isoform 2 exhibited a greater effect on cell plasma membrane expression of SCNN1A/ENAC and Na(+) transport than isoform 1. ATP + a protein = ADP + a phosphoprotein. Two specific sites, one in the kinase domain (Thr-256) and the other in the C-terminal regulatory region (Ser- 422), need to be phosphorylated for its full activation. Phosphorylation at Ser-397 and Ser-401 are also essential for its activity. Activated by WNK1, WNK2, WNK3 and WNK4. Homodimer; disulfide-linked. Forms a trimeric complex with FBXW7 and NOTCH1. Interacts with MAPK3/ERK1, MAPK1/ERK2, MAP2K1/MEK1, MAP2K2/MEK2, NEDD4, NEDD4L, MAPT/TAU, MAPK7, CREB1, SLC9A3R2/NHERF2 and KCNJ1/ROMK1. Associates with the mammalian target of rapamycin complex 2 (mTORC2) via an interaction with MAPKAP1/SIN1. Cytoplasm. Nucleus. Endoplasmic reticulum membrane. Cell membrane. Mitochondrion. Note=The subcellular localization is controlled by the cell cycle, as well as by exposure to specific hormones and environmental stress stimuli. In proliferating cells, it shuttles between the nucleus and cytoplasm in synchrony with the cell cycle, and in serum/growth factor- stimulated cells it resides in the nucleus. In contrast, after exposure to environmental stress or treatment with glucocorticoids, it is detected in the cytoplasm and with certain stress conditions is associated with the mitochondria. In osmoregulation through the epithelial sodium channel, it can be localized to the cytoplasmic surface of the cell membrane. Nuclear, upon phosphorylation. Isoform 2: Cell membrane. Event=Alternative promoter usage, Alternative splicing; Named isoforms=5; Name=1; IsoId=O00141-1; Sequence=Displayed; Name=2; Synonyms=Sgk1.1, Sgk1_v2; IsoId=O00141-2; Sequence=VSP_037784; Note=Produced by alternative promoter usage; Name=3; Synonyms=Sgk1.2; IsoId=O00141-3; Sequence=VSP_037785; Note=Produced by alternative promoter usage; Name=4; IsoId=O00141-4; Sequence=VSP_037786; Note=Produced by alternative splicing of isoform 1; Name=5; IsoId=O00141-5; Sequence=VSP_037787; Note=Produced by alternative promoter usage; Expressed in most tissues with highest levels in the pancreas, followed by placenta, kidney and lung. Isoform 2 is strongly expressed in brain and pancreas, weaker in heart, placenta, lung, liver and skeletal muscle. Induced by a very large spectrum of stimuli distinct from glucocorticoids and serum. These include aldosterone, cell shrinkage, cell swelling, TGF-beta, ischemic injury of the brain, neuronal excitotoxicity memory consolidation, chronic viral hepatitis, DNA-damaging agents, vitamin D3 psychophysiological stress, iron, glucose, EDN1, CSF2, fibroblast growth factor, platelet-derived growth factor, phorbolesters, follicle- stimulating hormone, sorbitol, heat shock, oxidative stress, UV irradiation, and p53/TP53. Many of these stimuli are highly cell- specific, as is the case, for example for aldosterone, which has been found to stimulate its expression only in cells derived from aldosterone-responsive epithelia. Isoform 2 is not induced by glucocorticoids but by excessive extracellular glucose and by TGFB1, in cultured cells. Isoform 2 subcellular localization at the cell membrane and resistance to proteasomal degradation is mediated by the sequences within the first 120 amino acids. Regulated by phosphorylation. Activated by phosphorylation on Ser-422 by mTORC2, transforming it into a substrate for PDPK1 which phosphorylates it on Thr-256. Phosphorylation on Ser-397 and Ser-401 are also essential for its activity. Phosphorylation on Ser-78 by MAPK7 is required for growth factor-induced cell cycle progression. Ubiquitinated by NEDD4L; which promotes proteasomal degradation. Ubiquitinated by SYVN1 at the endoplasmic reticulum; which promotes rapid proteasomal degradation and maintains a high turnover rate in resting cells. Isoform 2 shows enhanced stability. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. Contains 1 AGC-kinase C-terminal domain. Contains 1 protein kinase domain. nucleotide binding regulation of cell growth protein kinase activity protein serine/threonine kinase activity protein serine/threonine/tyrosine kinase activity calcium channel regulator activity protein binding ATP binding nucleus cytoplasm mitochondrion endoplasmic reticulum endoplasmic reticulum membrane cytosol plasma membrane protein phosphorylation sodium ion transport apoptotic process cellular response to DNA damage stimulus long-term memory regulation of blood pressure potassium channel regulator activity membrane kinase activity phosphorylation nuclear speck transferase activity sodium channel regulator activity chloride channel regulator activity peptidyl-serine phosphorylation regulation of cell migration positive regulation of transporter activity ion transmembrane transport intracellular signal transduction regulation of cell proliferation regulation of apoptotic process neuron projection morphogenesis regulation of catalytic activity regulation of sequence-specific DNA binding transcription factor activity regulation of gastric acid secretion renal sodium ion absorption uc003qen.1 uc003qen.2 uc003qen.3 uc003qen.4 uc003qen.5 
ENST00000237316.3 TCF21 ENST00000237316.3 Homo sapiens transcription factor 21 (TCF21), transcript variant 1, mRNA. (from RefSeq NM_198392) BHLHA23 E1P581 ENST00000237316.1 ENST00000237316.2 NM_198392 O43545 O43680 POD1 Q6ICV0 Q9BZ14 TCF21_HUMAN uc003qej.1 uc003qej.2 uc003qej.3 TCF21 encodes a transcription factor of the basic helix-loop-helix family. The TCF21 product is mesoderm specific, and expressed in embryonic epicardium, mesenchyme-derived tissues of lung, gut, gonad, and both mesenchymal and glomerular epithelial cells in the kidney. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. Involved in epithelial-mesenchymal interactions in kidney and lung morphogenesis that include epithelial differentiation and branching morphogenesis. May play a role in the specification or differentiation of one or more subsets of epicardial cell types. Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with TCF3 and binds the E box (5'-CANNTG-3'). Nucleus. Contains 1 bHLH (basic helix-loop-helix) domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding ureteric bud development branching involved in ureteric bud morphogenesis morphogenesis of a branching structure kidney development vasculature development DNA binding nucleus sex determination sex differentiation animal organ morphogenesis branchiomeric skeletal muscle development epithelial cell differentiation glomerulus development histone deacetylase binding bHLH transcription factor binding positive regulation of transcription from RNA polymerase II promoter protein dimerization activity lung alveolus development spleen development embryonic digestive tract morphogenesis reproductive structure development gland development androgen receptor binding Sertoli cell differentiation palate development lung morphogenesis lung vasculature development bronchiole development diaphragm development respiratory system development negative regulation of androgen receptor signaling pathway E-box binding metanephric mesenchymal cell differentiation metanephric glomerular capillary formation uc003qej.1 uc003qej.2 uc003qej.3 
ENST00000237353.15 PMFBP1 ENST00000237353.15 Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA. (from RefSeq NM_031293) ENST00000237353.1 ENST00000237353.10 ENST00000237353.11 ENST00000237353.12 ENST00000237353.13 ENST00000237353.14 ENST00000237353.2 ENST00000237353.3 ENST00000237353.4 ENST00000237353.5 ENST00000237353.6 ENST00000237353.7 ENST00000237353.8 ENST00000237353.9 NM_031293 PMFBP_HUMAN Q8NA09 Q8TBY8 Q9BY16 Q9H0H4 uc002fcd.1 uc002fcd.2 uc002fcd.3 uc002fcd.4 uc002fcd.5 May play a role in sperm morphology especially the sperm tail and consequently affect fertility. May also be involved in the general organization of cellular cytoskeleton. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8TBY8-1; Sequence=Displayed; Name=2; IsoId=Q8TBY8-2; Sequence=VSP_028043, VSP_028045; Note=No experimental confirmation available; Name=3; IsoId=Q8TBY8-3; Sequence=VSP_028043, VSP_028044, VSP_028045; Note=No experimental confirmation available; Sequence=AAK15456.1; Type=Erroneous initiation; molecular_function cytoplasm cilium spermatogenesis motile cilium cell projection sperm connecting piece uc002fcd.1 uc002fcd.2 uc002fcd.3 uc002fcd.4 uc002fcd.5 
ENST00000237380.12 MED28 ENST00000237380.12 Homo sapiens mediator complex subunit 28 (MED28), mRNA. (from RefSeq NM_025205) EG1 ENST00000237380.1 ENST00000237380.10 ENST00000237380.11 ENST00000237380.2 ENST00000237380.3 ENST00000237380.4 ENST00000237380.5 ENST00000237380.6 ENST00000237380.7 ENST00000237380.8 ENST00000237380.9 FKSG20 MED28_HUMAN NM_025205 Q9BZJ5 Q9H204 uc003gpk.1 uc003gpk.2 uc003gpk.3 Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. May be part of a complex containing NF2/merlin that participates in cellular signaling to the actin cytoskeleton downstream of tyrosine kinase signaling pathways. Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. Forms a ternary complex with NF2/merlin and GRB2. Binds to actin. P06241:FYN; NbExp=5; IntAct=EBI-514199, EBI-515315; P62993:GRB2; NbExp=3; IntAct=EBI-514199, EBI-401755; P06239:LCK; NbExp=4; IntAct=EBI-514199, EBI-1348; P35240:NF2; NbExp=4; IntAct=EBI-514199, EBI-1014472; P35240-1:NF2; NbExp=2; IntAct=EBI-514199, EBI-1014500; Nucleus. Cytoplasm. Membrane; Peripheral membrane protein. Note=According to PubMed:15467741, it is cytoplasmic and mainly membrane-associated. Widely expressed. Highly expressed in vascular tissues such as placenta, testis and liver. Up-regulated by endothelial cells when exposed to tumor conditional media. Belongs to the Mediator complex subunit 28 family. Sequence=AAK11563.1; Type=Frameshift; Positions=165; actin binding protein binding nucleus nucleoplasm cytoplasm cytoskeleton membrane mediator complex stem cell population maintenance cortical actin cytoskeleton negative regulation of smooth muscle cell differentiation uc003gpk.1 uc003gpk.2 uc003gpk.3 
ENST00000237455.5 RNF103 ENST00000237455.5 Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA. (from RefSeq NM_005667) A6NFV6 ENST00000237455.1 ENST00000237455.2 ENST00000237455.3 ENST00000237455.4 NM_005667 O00237 Q53SU6 Q8IVB9 RN103_HUMAN ZFP103 uc002srn.1 uc002srn.2 uc002srn.3 uc002srn.4 uc002srn.5 The protein encoded by this gene contains a RING-H2 finger, a motif known to be involved in protein-protein and protein-DNA interactions. This gene is highly expressed in normal cerebellum, but not in the cerebral cortex. The expression of the rat counterpart in the frontal cortex and hippocampus was shown to be induced by elctroconvulsive treatment (ECT) as well as chronic antidepressant treatment, suggesting that this gene may be a molecular target for ECT and antidepressants. The protein is a ubiquitin ligase that functions in the endoplasmic reticulum-associated degradation pathway. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream CHMP3 (charged multivesicular body protein 3) gene. [provided by RefSeq, Oct 2011]. Acts as an E2-dependent E3 ubiquitin-protein ligase, probably involved in the ER-associated protein degradation pathway. Protein modification; protein ubiquitination. Interacts with DERL1 and VCP. Endoplasmic reticulum membrane; Multi-pass membrane protein. Highly expressed in the normal cerebellum but not in the cerebral cortex. Contains 1 RING-type zinc finger. ubiquitin-protein transferase activity protein binding endoplasmic reticulum endoplasmic reticulum membrane central nervous system development membrane integral component of membrane protein ubiquitination transferase activity ER-associated ubiquitin-dependent protein catabolic process endoplasmic reticulum quality control compartment metal ion binding ubiquitin protein ligase activity endoplasmic reticulum mannose trimming uc002srn.1 uc002srn.2 uc002srn.3 uc002srn.4 uc002srn.5 
ENST00000237527.8 GHRH ENST00000237527.8 Homo sapiens growth hormone releasing hormone (GHRH), transcript variant 2, mRNA. (from RefSeq NM_001184731) ENST00000237527.1 ENST00000237527.2 ENST00000237527.3 ENST00000237527.4 ENST00000237527.5 ENST00000237527.6 ENST00000237527.7 GHRF NM_001184731 P01286 Q4KN10 Q5JYR1 SLIB_HUMAN uc002xgr.1 uc002xgr.2 uc002xgr.3 uc002xgr.4 uc002xgr.5 uc002xgr.6 This gene encodes a member of the glucagon family of proteins. The encoded preproprotein is produced in the hypothalamus and cleaved to generate the mature factor, known as somatoliberin, which acts to stimulate growth hormone release from the pituitary gland. Variant receptors for somatoliberin have been found in several types of tumors, and antagonists of these receptors can inhibit the growth of the tumors. Defects in this gene are a cause of dwarfism, while hypersecretion of the encoded protein is a cause of gigantism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## CDS exon combination :: BC098161.1 [ECO:0000331] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology ##RefSeq-Attributes-END## GRF is released by the hypothalamus and acts on the adenohypophyse to stimulate the secretion of growth hormone. Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P01286-1; Sequence=Displayed; Name=2; IsoId=P01286-2; Sequence=VSP_023146; Available under the names Groliberin (Pharmacia) or Somatrel (Ferring). Also available under the name Geref (Serono). Geref is a synthetic acetylated form of residues 1 to 29 of GHRH. Used for the treatment of growth hormone deficiency. Belongs to the glucagon family. Name=Wikipedia; Note=Growth hormone releasing hormone entry; URL="http://en.wikipedia.org/wiki/Growth_hormone_releasing_hormone"; hormone activity neuropeptide hormone activity extracellular region extracellular space G-protein coupled receptor signaling pathway adenylate cyclase-activating G-protein coupled receptor signaling pathway cell-cell signaling positive regulation of cell proliferation growth hormone-releasing hormone activity adenohypophysis development growth hormone secretion growth hormone-releasing hormone receptor binding response to food positive regulation of multicellular organism growth neuron projection terminal bouton perikaryon positive regulation of insulin-like growth factor receptor signaling pathway positive regulation of circadian sleep/wake cycle, REM sleep positive regulation of hormone secretion peptide hormone receptor binding positive regulation of growth hormone secretion uc002xgr.1 uc002xgr.2 uc002xgr.3 uc002xgr.4 uc002xgr.5 uc002xgr.6 
ENST00000237530.11 RPN2 ENST00000237530.11 Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA. (from RefSeq NM_002951) ENST00000237530.1 ENST00000237530.10 ENST00000237530.2 ENST00000237530.3 ENST00000237530.4 ENST00000237530.5 ENST00000237530.6 ENST00000237530.7 ENST00000237530.8 ENST00000237530.9 NM_002951 P04844 Q5JYR6 Q6IBA5 Q96E21 Q9BUQ3 Q9UBE1 RPN2_HUMAN uc002xgp.1 uc002xgp.2 uc002xgp.3 uc002xgp.4 uc002xgp.5 This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein is similar in sequence to the yeast oligosaccharyl transferase subunit SWP1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]. Essential subunit of N-oligosaccharyl transferase enzyme which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Dolichyl diphosphooligosaccharide + protein L- asparagine = dolichyl diphosphate + a glycoprotein with the oligosaccharide chain attached by N-glycosyl linkage to protein L- asparagine. Component of the oligosaccharyltransferase (OST) complex. OST seems to exist in different forms which contain at least RPN1, RPN2, OST48, DAD1, OSTC, KRTCAP2 and either STT3A or STT3B. OST can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes (By similarity). Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P04844-1; Sequence=Displayed; Name=2; IsoId=P04844-2; Sequence=VSP_043051, VSP_043052; Note=No experimental confirmation available; Expressed in all tissues tested. Belongs to the SWP1 family. autophagosome membrane protein binding endoplasmic reticulum endoplasmic reticulum membrane rough endoplasmic reticulum cellular protein modification process protein glycosylation protein N-linked glycosylation aging oligosaccharyltransferase complex membrane integral component of membrane protein N-linked glycosylation via asparagine response to drug ribosome binding dolichyl-diphosphooligosaccharide-protein glycotransferase activity uc002xgp.1 uc002xgp.2 uc002xgp.3 uc002xgp.4 uc002xgp.5 
ENST00000237536.9 SOGA1 ENST00000237536.9 Homo sapiens suppressor of glucose, autophagy associated 1 (SOGA1), transcript variant 1, mRNA. (from RefSeq NM_080627) A6NK10 C20orf117 ENST00000237536.1 ENST00000237536.2 ENST00000237536.3 ENST00000237536.4 ENST00000237536.5 ENST00000237536.6 ENST00000237536.7 ENST00000237536.8 KIAA0889 NM_080627 O94964 Q14DB2 Q5JW51 Q6ZTG8 SOGA SOGA1_HUMAN uc021wcx.1 uc021wcx.2 uc021wcx.3 Regulates autophagy by playing a role in the reduction of glucose production in an adiponectin- and insulin-dependent manner (By similarity). The C-terminal 25 kDa form occurs as a monomer (By similarity). C-terminal 80 kDa form: Secreted (By similarity). Note=Secreted in primary hepatocyte-conditioned media (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=O94964-1; Sequence=Displayed; Name=2; IsoId=O94964-2; Sequence=VSP_035977; Note=No experimental confirmation available. Gene prediction based on EST data; Name=3; IsoId=O94964-3; Sequence=VSP_035976, VSP_035978, VSP_035979; Name=4; IsoId=O94964-4; Sequence=VSP_040825, VSP_040826; Up-regulated in the plasma by adiponectin in healthy fasting female. Proteolytically cleaved in primary hepatocytes into a C- terminal 80 kDa form (By similarity). Proteolytically cleaved into a C-terminal SOGA 25 kDa form that is detected in plasma. Belongs to the SOGA family. Sequence=BAA74912.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; molecular_function extracellular region extracellular space insulin receptor signaling pathway regulation of autophagy negative regulation of gluconeogenesis extracellular exosome uc021wcx.1 uc021wcx.2 uc021wcx.3 
ENST00000237596.7 PKD2 ENST00000237596.7 Homo sapiens polycystin 2, transient receptor potential cation channel (PKD2), transcript variant 2, non-coding RNA. (from RefSeq NR_156488) ENST00000237596.1 ENST00000237596.2 ENST00000237596.3 ENST00000237596.4 ENST00000237596.5 ENST00000237596.6 NR_156488 O60441 PKD2_HUMAN Q13563 Q15764 Q2M1Q3 Q2M1Q5 uc003hre.1 uc003hre.2 uc003hre.3 uc003hre.4 uc003hre.5 This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]. Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). PKD1 and PKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis (By similarity). Acts as a regulator of cilium length, together with PKD1 (By similarity). The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling. The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity). Functions as a calcium permeable cation channel. Forms homooligomers. Isoform 1 interacts with PKD1 while isoform 3 does not (By similarity). PKD1 requires the presence of PKD2 for stable expression. Interacts with CD2AP. Interacts with HAX1. Interacts with NEK8 (By similarity). Part of a complex containing AKAP5, ADCY5, ADCY6 and PDE4C (By similarity). Membrane; Multi-pass membrane protein (Potential). Endoplasmic reticulum. Cell projection, cilium (By similarity). Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q13563-1; Sequence=Displayed; Name=2; Synonyms=delta6; IsoId=Q13563-2; Sequence=VSP_042479, VSP_042480; Name=3; Synonyms=delta7; IsoId=Q13563-3; Sequence=VSP_042481; Name=4; Synonyms=delta9; IsoId=Q13563-4; Sequence=VSP_042482, VSP_042483; Name=5; Synonyms=delta12/13; IsoId=Q13563-5; Sequence=VSP_042484; Note=Minor isoform; Strongly expressed in ovary, fetal and adult kidney, testis, and small intestine. Not detected in peripheral leukocytes. The C-terminal coiled-coil domain binds calcium and undergoes a calcium-induced conformation change. It is implicated in oligomerization and the interaction with PKD1. Defects in PKD2 are the cause of polycystic kidney disease 2 (PKD2) [MIM:613095]. PKD2 is a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occurs in the liver and other organs. It represents approximately 15% of the cases of autosomal dominant polycystic kidney disease. PKD2 is clinically milder than PKD1 but it has a deleterious impact on overall life expectancy. Belongs to the polycystin family. Contains 1 EF-hand domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PKD2"; Name=Functional Glycomics Gateway - Glycan Binding; Note=Polycystin 2 - Not a C-type lectin; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_205"; branching involved in ureteric bud morphogenesis kidney development liver development embryonic placenta development heart looping polycystin complex detection of nodal flow receptor binding voltage-gated ion channel activity voltage-gated calcium channel activity voltage-gated sodium channel activity voltage-gated potassium channel activity cation channel activity calcium channel activity potassium channel activity calcium ion binding protein binding cytoplasm endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus plasma membrane integral component of plasma membrane cell-cell junction cilium ion transport potassium ion transport calcium ion transport cellular calcium ion homeostasis cell cycle arrest positive regulation of cytosolic calcium ion concentration JAK-STAT cascade determination of left/right symmetry heart development cytoskeletal protein binding negative regulation of cell proliferation basal plasma membrane positive regulation of gene expression channel activity outward rectifier potassium channel activity membrane integral component of membrane Wnt signaling pathway basolateral plasma membrane spinal cord development neural tube development voltage-gated cation channel activity lamellipodium cytoplasmic vesicle membrane cytoplasmic vesicle motile cilium positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity cellular response to reactive oxygen species cation channel complex regulation of ion transmembrane transport metanephric part of ureteric bud development sodium ion transmembrane transport aorta development ciliary basal body regulation of cell proliferation identical protein binding protein homodimerization activity actinin binding cytoplasmic sequestering of transcription factor cell projection HLH domain binding ion channel binding cilium organization basal cortex positive regulation of nitric oxide biosynthetic process positive regulation of cyclin-dependent protein serine/threonine kinase activity positive regulation of transcription from RNA polymerase II promoter metal ion binding calcium-induced calcium release activity detection of mechanical stimulus ATPase binding release of sequestered calcium ion into cytosol phosphoprotein binding protein tetramerization protein homotetramerization protein heterotetramerization centrosome duplication muscle alpha-actinin binding alpha-actinin binding ciliary membrane negative regulation of ryanodine-sensitive calcium-release channel activity placenta blood vessel development renal tubule morphogenesis renal artery morphogenesis extracellular exosome calcium ion transmembrane transport positive regulation of cell cycle arrest cellular response to calcium ion cellular response to cAMP integral component of cytoplasmic side of endoplasmic reticulum membrane cellular response to hydrostatic pressure cellular response to osmotic stress cellular response to fluid shear stress integral component of lumenal side of endoplasmic reticulum membrane potassium ion transmembrane transport determination of liver left/right asymmetry metanephric mesenchyme development mesonephric tubule development mesonephric duct development metanephric smooth muscle tissue development metanephric cortex development metanephric ascending thin limb development metanephric cortical collecting duct development metanephric distal tubule development metanephric S-shaped body morphogenesis mitotic spindle regulation of calcium ion import non-motile cilium inorganic cation transmembrane transport cell-cell signaling by wnt negative regulation of G1/S transition of mitotic cell cycle filamentous actin uc003hre.1 uc003hre.2 uc003hre.3 uc003hre.4 uc003hre.5 
ENST00000237642.7 STBD1 ENST00000237642.7 Homo sapiens starch binding domain 1 (STBD1), mRNA. (from RefSeq NM_003943) B3KVZ9 ENST00000237642.1 ENST00000237642.2 ENST00000237642.3 ENST00000237642.4 ENST00000237642.5 ENST00000237642.6 GENX-3414 NM_003943 O95210 STBD1_HUMAN uc003hka.1 uc003hka.2 uc003hka.3 uc003hka.4 uc003hka.5 May have the capability to bind to carbohydrates (Potential). O95166:GABARAP; NbExp=5; IntAct=EBI-2947137, EBI-712001; Q9H0R8:GABARAPL1; NbExp=7; IntAct=EBI-2947137, EBI-746969; P60520:GABARAPL2; NbExp=3; IntAct=EBI-2947137, EBI-720116; Q9GZQ8:MAP1LC3B; NbExp=2; IntAct=EBI-2947137, EBI-373144; Membrane; Single-pass type III membrane protein (Probable). Note=Distributed in the transverse tubules and/or near the junctional sarcoplasmic reticulum. Expressed at high level in skeletal and cardiac muscles. Moderately expressed in liver and placenta. No expression is found in pancreas, kidney or lung. Present in skeletal muscle, heart and placenta (at protein level). Contains 1 CBM20 (carbohydrate binding type-20) domain. protein binding endoplasmic reticulum endoplasmic reticulum membrane cytosol plasma membrane integral component of plasma membrane carbohydrate metabolic process glycogen metabolic process glycogen catabolic process autophagy membrane integral component of membrane enzyme binding carbohydrate binding polysaccharide binding T-tubule pre-autophagosomal structure membrane neutrophil degranulation intracellular transport perinuclear region of cytoplasm glycophagy tertiary granule membrane ficolin-1-rich granule membrane glycogen binding starch binding uc003hka.1 uc003hka.2 uc003hka.3 uc003hka.4 uc003hka.5 
ENST00000237654.9 CCNI ENST00000237654.9 Homo sapiens cyclin I (CCNI), transcript variant 1, mRNA. (from RefSeq NM_006835) B2R6M0 CCNI_HUMAN ENST00000237654.1 ENST00000237654.2 ENST00000237654.3 ENST00000237654.4 ENST00000237654.5 ENST00000237654.6 ENST00000237654.7 ENST00000237654.8 NM_006835 Q14094 uc003hkm.1 uc003hkm.2 uc003hkm.3 uc003hkm.4 uc003hkm.5 uc003hkm.6 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin shows the highest similarity with cyclin G. The transcript of this gene was found to be expressed constantly during cell cycle progression. [provided by RefSeq, Jan 2017]. Highest levels in adult heart, brain and skeletal muscle. Lower levels in adult placenta, lung, kidney and pancreas. Also high levels in fetal brain and lower levels in fetal lung, liver and kidney. Also abundant in testis and thyroid. Expression is independent of the cell cycle in lung fibroblasts. Belongs to the cyclin family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ccni/"; regulation of cyclin-dependent protein serine/threonine kinase activity cyclin-dependent protein kinase holoenzyme complex nucleus cytoplasm protein phosphorylation spermatogenesis cyclin-dependent protein serine/threonine kinase regulator activity protein kinase binding mitotic cell cycle phase transition regulation of cell cycle protein kinase activity uc003hkm.1 uc003hkm.2 uc003hkm.3 uc003hkm.4 uc003hkm.5 uc003hkm.6 
ENST00000237696.10 RARRES1 ENST00000237696.10 Homo sapiens retinoic acid receptor responder 1 (RARRES1), transcript variant 1, mRNA. (from RefSeq NM_206963) ENST00000237696.1 ENST00000237696.2 ENST00000237696.3 ENST00000237696.4 ENST00000237696.5 ENST00000237696.6 ENST00000237696.7 ENST00000237696.8 ENST00000237696.9 NM_206963 P49788 Q8N1D7 TIG1 TIG1_HUMAN uc003fci.1 uc003fci.2 uc003fci.3 uc003fci.4 uc003fci.5 This gene was identified as a retinoid acid (RA) receptor-responsive gene. It encodes a type 1 membrane protein. The expression of this gene is upregulated by tazarotene as well as by retinoic acid receptors. The expression of this gene is found to be downregulated in prostate cancer, which is caused by the methylation of its promoter and CpG island. Alternatively spliced transcript variant encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. Membrane; Single-pass type II membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=2; IsoId=P49788-1; Sequence=Displayed; Note=No experimental confirmation available; Name=1; IsoId=P49788-2; Sequence=VSP_010697, VSP_010698; By tazarotene and by all the retinoic acid receptors tested. Belongs to the protease inhibitor I47 (latexin) family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/RARRES1ID42050ch3q25.html"; extracellular space metalloendopeptidase inhibitor activity negative regulation of cell proliferation negative regulation of endopeptidase activity membrane integral component of membrane extracellular exosome uc003fci.1 uc003fci.2 uc003fci.3 uc003fci.4 uc003fci.5 
ENST00000237837.2 FGF23 ENST00000237837.2 Homo sapiens fibroblast growth factor 23 (FGF23), mRNA. (from RefSeq NM_020638) ENST00000237837.1 FGF23_HUMAN HYPF NM_020638 Q4V758 Q9GZV9 UNQ3027/PRO9828 uc001qmq.1 uc001qmq.2 This gene encodes a member of the fibroblast growth factor family of proteins, which possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. The product of this gene regulates phosphate homeostasis and transport in the kidney. The full-length, functional protein may be deactivated via cleavage into N-terminal and C-terminal chains. Mutation of this cleavage site causes autosomal dominant hypophosphatemic rickets (ADHR). Mutations in this gene are also associated with hyperphosphatemic familial tumoral calcinosis (HFTC). [provided by RefSeq, Feb 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB047858.1, AF263537.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2159607, SAMEA2162895 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000237837.2/ ENSP00000237837.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Regulator of phosphate homeostasis. Inhibits renal tubular phosphate transport by reducing SLC34A1 levels. Upregulates EGR1 expression in the presence of KL (By similarity). Acts directly on the parathyroid to decrease PTH secretion (By similarity). Regulator of vitamin-D metabolism. Negatively regulates osteoblast differentiation and matrix mineralization. Interacts with FGFR1, FGFR2, FGFR3 and FGFR4. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by KL and heparan sulfate glycosaminoglycans that function as coreceptors (By similarity). Secreted. Note=Secretion is dependent on O- glycosylation. Expressed in osteogenic cells particularly during phases of active bone remodeling. In adult trabecular bone, expressed in osteocytes and flattened bone-lining cells (inactive osteoblasts). Following secretion this protein is inactivated by cleavage into a N-terminal fragment and a C-terminal fragment. The processing is effected by proprotein convertases. O-glycosylated by GALT3. Glycosylation is necessary for secretion; it blocks processing by proprotein convertases when the O-glycan is alpha 2,6-sialylated. Competition between proprotein convertase cleavage and block of cleavage by O-glycosylation determines the level of secreted active FGF23. Defects in FGF23 are the cause of autosomal dominant hypophosphataemic rickets (ADHR) [MIM:193100]. ADHR is characterized by low serum phosphorus concentrations, rickets, osteomalacia, leg deformities, short stature, bone pain and dental abscesses. Defects in FGF23 are a cause of hyperphosphatemic familial tumoral calcinosis (HFTC) [MIM:211900]. HFTC is a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Belongs to the heparin-binding growth factors family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FGF23"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/fgf23/"; MAPK cascade fibroblast growth factor receptor binding type 1 fibroblast growth factor receptor binding protein binding extracellular region extracellular space endoplasmic reticulum lumen Golgi lumen phosphate-containing compound metabolic process growth factor activity fibroblast growth factor receptor signaling pathway regulation of phosphate transport positive regulation of vitamin D 24-hydroxylase activity cell differentiation regulation of bone mineralization negative regulation of bone mineralization cellular phosphate ion homeostasis response to magnesium ion vitamin D metabolic process vitamin D catabolic process post-translational protein modification cellular protein metabolic process cellular response to leptin stimulus negative regulation of osteoblast differentiation positive regulation of transcription, DNA-templated negative regulation of hormone secretion positive regulation of protein kinase B signaling phosphate ion homeostasis positive regulation of ERK1 and ERK2 cascade cellular response to vitamin D cellular response to interleukin-6 cellular response to parathyroid hormone stimulus positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway response to sodium phosphate uc001qmq.1 uc001qmq.2 
ENST00000237853.9 ELL2 ENST00000237853.9 Homo sapiens elongation factor for RNA polymerase II 2 (ELL2), mRNA. (from RefSeq NM_012081) ELL2_HUMAN ENST00000237853.1 ENST00000237853.2 ENST00000237853.3 ENST00000237853.4 ENST00000237853.5 ENST00000237853.6 ENST00000237853.7 ENST00000237853.8 NM_012081 O00472 uc003klr.1 uc003klr.2 uc003klr.3 uc003klr.4 uc003klr.5 Elongation factor that can increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Interacts with EAF1 and EAF2. Nucleus. Belongs to the ELL/occludin family. protein binding nucleus nucleoplasm transcription elongation from RNA polymerase II promoter transcription elongation factor complex snRNA transcription from RNA polymerase II promoter uc003klr.1 uc003klr.2 uc003klr.3 uc003klr.4 uc003klr.5 
ENST00000238044.8 ECRG4 ENST00000238044.8 Homo sapiens ECRG4 augurin precursor (ECRG4), mRNA. (from RefSeq NM_032411) AUGN_HUMAN C2orf40 D3DVK2 ENST00000238044.1 ENST00000238044.2 ENST00000238044.3 ENST00000238044.4 ENST00000238044.5 ENST00000238044.6 ENST00000238044.7 NM_032411 Q9H1Z8 UNQ761/PRO1508 uc010fjf.1 uc010fjf.2 uc010fjf.3 uc010fjf.4 uc010fjf.5 Probable hormone that may induce senescence of oligodendrocyte and neural precursor cells, characterized by G1 arrest, RB1 dephosphorylation and accelerated CCND1 and CCND3 proteasomal degradation (By similarity). Secreted. Cytoplasmic vesicle, secretory vesicle. Belongs to the augurin family. neuropeptide hormone activity extracellular region extracellular space cytoplasm plasma membrane neuropeptide signaling pathway central nervous system development negative regulation of cell proliferation response to wounding membrane apical plasma membrane vasopressin secretion dense core granule anaphase-promoting complex-dependent catabolic process regulation of cell proliferation positive regulation of corticotropin secretion positive regulation of corticotropin-releasing hormone secretion G1 to G0 transition cellular senescence positive regulation of corticosterone secretion uc010fjf.1 uc010fjf.2 uc010fjf.3 uc010fjf.4 uc010fjf.5 
ENST00000238081.8 YWHAQ ENST00000238081.8 Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta (YWHAQ), mRNA. (from RefSeq NM_006826) 1433T_HUMAN D6W4Z5 ENST00000238081.1 ENST00000238081.2 ENST00000238081.3 ENST00000238081.4 ENST00000238081.5 ENST00000238081.6 ENST00000238081.7 NM_006826 P27348 Q567U5 Q5TZU8 Q9UP48 uc002qzx.1 uc002qzx.2 uc002qzx.3 uc002qzx.4 uc002qzx.5 uc002qzx.6 This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse and rat orthologs. This gene is upregulated in patients with amyotrophic lateral sclerosis. It contains in its 5' UTR a 6 bp tandem repeat sequence which is polymorphic, however, there is no correlation between the repeat number and the disease. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.172956.1, SRR1803611.223311.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000238081.8/ ENSP00000238081.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negatively regulates the kinase activity of PDPK1. Homodimer. Interacts with CDK16 (By similarity). Interacts with SSH1. Interacts with CDKN1B ('Thr-198' phosphorylated form); the interaction translocates CDKN1B to the cytoplasm. Interacts with GAB2. Interacts with the 'Ser-241' phosphorylated form of PDPK1. Q9P0K1-3:ADAM22; NbExp=2; IntAct=EBI-359854, EBI-1567267; P49407:ARRB1; NbExp=3; IntAct=EBI-359854, EBI-743313; P32121:ARRB2; NbExp=3; IntAct=EBI-359854, EBI-714559; O94921:CDK14; NbExp=3; IntAct=EBI-359854, EBI-1043945; P00533:EGFR; NbExp=4; IntAct=EBI-359854, EBI-297353; P23945:FSHR; NbExp=3; IntAct=EBI-359854, EBI-848239; Q14678:KANK1; NbExp=2; IntAct=EBI-359854, EBI-2556221; Q14678-2:KANK1; NbExp=3; IntAct=EBI-359854, EBI-6173812; Cytoplasm. Note=In neurons, axonally transported to the nerve terminals. Abundantly expressed in brain, heart and pancreas, and at lower levels in kidney and placenta. Up-regulated in the lumbar spinal cord from patients with sporadic amyotrophic lateral sclerosis (ALS) compared with controls, with highest levels of expression in individuals with predominant lower motor neuron involvement. Ser-232 is probably phosphorylated by CK1. Belongs to the 14-3-3 family. protein binding cytoplasm mitochondrion cytosol focal adhesion protein targeting small GTPase mediated signal transduction protein C-terminus binding membrane protein domain specific binding substantia nigra development macromolecular complex negative regulation of ion transmembrane transport identical protein binding ion channel binding synapse negative regulation of transcription, DNA-templated protein N-terminus binding membrane organization extracellular exosome 14-3-3 protein binding positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway uc002qzx.1 uc002qzx.2 uc002qzx.3 uc002qzx.4 uc002qzx.5 uc002qzx.6 
ENST00000238112.8 CPSF3 ENST00000238112.8 Homo sapiens cleavage and polyadenylation specific factor 3 (CPSF3), transcript variant 1, mRNA. (from RefSeq NM_016207) CPSF3_HUMAN CPSF73 ENST00000238112.1 ENST00000238112.2 ENST00000238112.3 ENST00000238112.4 ENST00000238112.5 ENST00000238112.6 ENST00000238112.7 NM_016207 O14769 Q53RS2 Q96F36 Q9UKF6 uc002qzo.1 uc002qzo.2 uc002qzo.3 uc002qzo.4 This gene encodes a member of the metallo-beta-lactamase family. The encoded protein is a 73kDa subunit of the cleavage and polyadenylation specificity factor and functions as an endonuclease that recognizes the pre-mRNA 3'-cleavage site AAUAAA prior to polyadenylation. It also cleaves after the pre-mRNA sequence ACCCA during histone 3'-end pre-mRNA processing. [provided by RefSeq, Oct 2012]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660803.92137.1, SRR1803615.243113.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000238112.8/ ENSP00000238112.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Component of the cleavage and polyadenylation specificity factor (CPSF) complex that play a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. Has endonuclease activity, and functions as mRNA 3'-end-processing endonuclease. Also involved in the histone 3'-end pre-mRNA processing. U7 snRNP- dependent protein that induces both the 3'-endoribonucleolytic cleavage of histone pre-mRNAs and acts as a 5' to 3' exonuclease for degrading the subsequent downstream cleavage product (DCP) of mature histone mRNAs. Cleavage occurs after the 5'-ACCCA-3' sequence in the histone pre-mRNA leaving a 3'hydroxyl group on the upstream fragment containing the stem loop (SL) and 5' phosphate on the downstream cleavage product (DCP) starting with CU nucleotides. The U7-dependent 5' to 3' exonuclease activity is processive and degrades the DCP RNA substrate even after complete removal of the U7-binding site. Binds to the downstream cleavage product (DCP) of histone pre-mRNAs and the cleaved DCP RNA substrate in a U7 snRNP dependent manner. Binds 2 zinc ions per subunit. Component of the cleavage and polyadenylation specificity factor (CPSF) complex, composed of CPSF1, CPSF2, CPSF3, CPSF4 and FIP1L1. Interacts with CPSF2, CSTF2 and SYMPK. Interacts with TUT1; the interaction is direct and mediates the recruitment of the CPSF complex on the 3'UTR of pre-mRNAs. Interacts with WDR33. Nucleus. Sumoylated on Lys-462, Lys-465 and Lys-545, preferentially by SUMO3. Belongs to the metallo-beta-lactamase superfamily. RNA-metabolizing metallo-beta-lactamase-like family. CPSF3 subfamily. mRNA splicing, via spliceosome RNA binding nuclease activity endonuclease activity endoribonuclease activity protein binding nucleus nucleoplasm mRNA cleavage and polyadenylation specificity factor complex termination of RNA polymerase II transcription mRNA polyadenylation mRNA cleavage mRNA processing mRNA 3'-end processing by stem-loop binding and cleavage mRNA export from nucleus 5'-3' exonuclease activity hydrolase activity mRNA 3'-end processing metal ion binding RNA phosphodiester bond hydrolysis, endonucleolytic uc002qzo.1 uc002qzo.2 uc002qzo.3 uc002qzo.4 
ENST00000238146.9 DDX55 ENST00000238146.9 Homo sapiens DEAD-box helicase 55 (DDX55), transcript variant 3, non-coding RNA. (from RefSeq NR_135105) DDX55_HUMAN ENST00000238146.1 ENST00000238146.2 ENST00000238146.3 ENST00000238146.4 ENST00000238146.5 ENST00000238146.6 ENST00000238146.7 ENST00000238146.8 KIAA1595 NR_135105 Q658L6 Q8NHQ9 Q9HCH7 uc001ufi.1 uc001ufi.2 uc001ufi.3 uc001ufi.4 uc001ufi.5 This gene encodes a member of protein family containing a characteristic Asp-Glu-Ala-Asp (DEAD) motif. These proteins are putative RNA helicases, and may be involved in a range of nuclear processes including translational initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Multiple alternatively spliced transcript variants have been found for this gene. Pseudogenes have been identified on chromosomes 1 and 12. [provided by RefSeq, Feb 2016]. Probable ATP-binding RNA helicase. ATP + H(2)O = ADP + phosphate. The Q motif is unique to and characteristic of the DEAD box family of RNA helicases and controls ATP binding and hydrolysis. Belongs to the DEAD box helicase family. DDX55/SPB4 subfamily. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain. nucleotide binding nucleic acid binding RNA binding RNA helicase activity helicase activity protein binding ATP binding nucleus nucleolus cytosol membrane hydrolase activity uc001ufi.1 uc001ufi.2 uc001ufi.3 uc001ufi.4 uc001ufi.5 
ENST00000238497.10 VPS4B ENST00000238497.10 Homo sapiens vacuolar protein sorting 4 homolog B (VPS4B), mRNA. (from RefSeq NM_004869) ENST00000238497.1 ENST00000238497.2 ENST00000238497.3 ENST00000238497.4 ENST00000238497.5 ENST00000238497.6 ENST00000238497.7 ENST00000238497.8 ENST00000238497.9 MIG1 NM_004869 O75351 Q69HW4 Q9GZS7 SKD1 VPS42 VPS4B_HUMAN uc002lix.1 uc002lix.2 uc002lix.3 uc002lix.4 uc002lix.5 The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. Mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be a yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 18; the gene for the other resides on chromosome 16. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF195514.1, SRR1660803.10147.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000238497.10/ ENSP00000238497.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. In conjunction with the ESCRT machinery also appears to function in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and enveloped virus budding (HIV-1 and other lentiviruses). Proposed to be monomeric or homodimeric in nucleotide- free form and to oligomerize upon binding to ATP to form two stacked hexameric or heptameric rings with a central pore through which ESCRT-III substrates are translocated in an ATP-dependent manner. In vitro, associates on the inside of a helical tubular structure formed by a CHMP2A-CHMP3 polymer. Interacts with CHMP1A, CHMP1B, CHMP2A, CHMP4B and CHMP6. Interacts with VPS4A; the interaction suggests a heteromeric assembly with VPS4A. Interacts with VTA1. Prevacuolar compartment membrane; Peripheral membrane protein. Late endosome membrane; Peripheral membrane protein (Probable). Note=Membrane-associated in the prevacuolar endosomal compartment. Localized in HIV-1 particles purified from acutely infected cells. Ubiquitously expressed. The MIT domain serves as an adapter for ESCRT-III proteins. It forms an asymmetric three-helix bundle that binds amphipathic MIM (MIT interacting motif) helices along the groove between MIT helices 2 and 3 present in a subset of ESCRT-III proteins thus establishing the canonical MIM-MIT interaction. In an extended conformation along the groove between helices 1 and 3, also binds to a type-2 MIT interacting motif (MIM2). Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the AAA ATPase family. Contains 1 MIT domain. nucleotide binding spindle pole protein binding ATP binding nucleus cytoplasm endosome centrosome cytosol potassium ion transport nucleus organization endosome organization vacuole organization cell cycle mitotic metaphase plate congression protein C-terminus binding endosome membrane regulation of centrosome duplication positive regulation of G2/M transition of mitotic cell cycle protein transport membrane endosomal transport macroautophagy hydrolase activity ATPase activity viral life cycle viral release from host cell cholesterol transport late endosome membrane endosome to lysosome transport via multivesicular body sorting pathway response to lipid multivesicular body assembly viral budding via host ESCRT complex ATPase activity, coupled identical protein binding protein homodimerization activity ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway positive regulation of viral process regulation of viral process protein depolymerization cell division negative regulation of cell death late endosomal microautophagy extracellular exosome Flemming body ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway regulation of mitotic spindle assembly positive regulation of viral release from host cell negative regulation of exosomal secretion positive regulation of exosomal secretion positive regulation of centriole elongation positive regulation of viral life cycle ESCRT III complex disassembly uc002lix.1 uc002lix.2 uc002lix.3 uc002lix.4 uc002lix.5 
ENST00000238508.8 SERPINB10 ENST00000238508.8 Homo sapiens serpin family B member 10 (SERPINB10), mRNA. (from RefSeq NM_005024) ENST00000238508.1 ENST00000238508.2 ENST00000238508.3 ENST00000238508.4 ENST00000238508.5 ENST00000238508.6 ENST00000238508.7 NM_005024 P48595 PI10 Q4VAX4 Q4VAX7 SPB10_HUMAN uc010xev.1 uc010xev.2 uc010xev.3 uc010xev.4 This gene is a member of the serpin peptidase inhibitor, clade B family and is found in a cluster of other similar genes on chromosome 18. The protein encoded by this gene appears to help control the regulation of protease functions during hematopoiesis. Variations in this gene may increase the risk of prostate cancer. [provided by RefSeq, Dec 2015]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.417906.1, SRR1163658.514721.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2149004, SAMEA2154529 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000238508.8/ ENSP00000238508.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Protease inhibitor that may play a role in the regulation of protease activities during hematopoiesis and apoptosis induced by TNF. May regulate protease activities in the cytoplasm and in the nucleus. Nucleus. Cytoplasm. Expressed specifically in the bone marrow. Belongs to the serpin family. Ov-serpin subfamily. serine-type endopeptidase inhibitor activity extracellular space nucleus cytoplasm plasma membrane negative regulation of peptidase activity negative regulation of endopeptidase activity peptidase inhibitor activity secretory granule membrane neutrophil degranulation ficolin-1-rich granule membrane uc010xev.1 uc010xev.2 uc010xev.3 uc010xev.4 
ENST00000238558.5 GSC ENST00000238558.5 Homo sapiens goosecoid homeobox (GSC), mRNA. (from RefSeq NM_173849) ENST00000238558.1 ENST00000238558.2 ENST00000238558.3 ENST00000238558.4 GSC_HUMAN NM_173849 P56915 Q86YR1 uc001ydu.1 uc001ydu.2 uc001ydu.3 uc001ydu.4 uc001ydu.5 This gene encodes a member of the bicoid subfamily of the paired (PRD) homeobox family of proteins. The encoded protein acts as a transcription factor and may be autoregulatory. A similar protein in mice plays a role in craniofacial and rib cage development during embryogenesis. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY177407.1, BC063580.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Regulates chordin (CHRD). May play a role in spatial programing within discrete embryonic fields or lineage compartments during organogenesis. In concert with NKX3-2, plays a role in defining the structural components of the middle ear; required for the development of the entire tympanic ring (By similarity). Nucleus. Belongs to the paired homeobox family. Bicoid subfamily. Contains 1 homeobox DNA-binding domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II transcription factor binding RNA polymerase II repressing transcription factor binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding nucleus transcription factor complex regulation of transcription, DNA-templated multicellular organism development gastrulation anatomical structure morphogenesis neural crest cell fate specification nuclear body dorsal/ventral neural tube patterning signal transduction involved in regulation of gene expression negative regulation of Wnt signaling pathway forebrain development middle ear morphogenesis sequence-specific DNA binding ear development muscle organ morphogenesis embryonic skeletal system morphogenesis uc001ydu.1 uc001ydu.2 uc001ydu.3 uc001ydu.4 uc001ydu.5 
ENST00000238561.10 ADCK1 ENST00000238561.10 Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 8, non-coding RNA. (from RefSeq NR_158989) ADCK1_HUMAN ENST00000238561.1 ENST00000238561.2 ENST00000238561.3 ENST00000238561.4 ENST00000238561.5 ENST00000238561.6 ENST00000238561.7 ENST00000238561.8 ENST00000238561.9 NR_158989 Q6PD65 Q86TW2 uc001xui.1 uc001xui.2 uc001xui.3 uc001xui.4 The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr). Secreted (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q86TW2-1; Sequence=Displayed; Name=2; IsoId=Q86TW2-2; Sequence=VSP_020885; Note=No experimental confirmation available; Belongs to the protein kinase superfamily. Contains 1 protein kinase domain. Sequence=CAD62620.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAD62620.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; nucleotide binding protein serine/threonine kinase activity ATP binding extracellular region protein phosphorylation kinase activity phosphorylation transferase activity uc001xui.1 uc001xui.2 uc001xui.3 uc001xui.4 
ENST00000238609.4 IFI27L2 ENST00000238609.4 Homo sapiens interferon alpha inducible protein 27 like 2 (IFI27L2), mRNA. (from RefSeq NM_032036) ENST00000238609.1 ENST00000238609.2 ENST00000238609.3 FAM14A I27L2_HUMAN NM_032036 Q8TBD7 Q9H2X8 Q9NYL0 TLH29 uc001ycq.1 uc001ycq.2 uc001ycq.3 uc001ycq.4 uc001ycq.5 Membrane; Single-pass type I membrane protein (Potential). Belongs to the IFI6/IFI27 family. Sequence=AAF65760.1; Type=Frameshift; Positions=99; Sequence=AAH22800.2; Type=Erroneous initiation; mitochondrion apoptotic process membrane integral component of membrane mitochondrial membrane uc001ycq.1 uc001ycq.2 uc001ycq.3 uc001ycq.4 uc001ycq.5 
ENST00000238616.10 NEK9 ENST00000238616.10 Homo sapiens NIMA related kinase 9 (NEK9), transcript variant 2, mRNA. (from RefSeq NM_033116) ENST00000238616.1 ENST00000238616.2 ENST00000238616.3 ENST00000238616.4 ENST00000238616.5 ENST00000238616.6 ENST00000238616.7 ENST00000238616.8 ENST00000238616.9 KIAA1995 NEK8 NEK9_HUMAN NERCC NM_033116 Q52LK6 Q8NCN0 Q8TCY4 Q8TD19 Q9UPI4 Q9Y6S4 Q9Y6S5 Q9Y6S6 uc001xrl.1 uc001xrl.2 uc001xrl.3 uc001xrl.4 uc001xrl.5 This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein is activated in mitosis and, in turn, activates other family members during mitosis. This protein also mediates cellular processes that are essential for interphase progression. [provided by RefSeq, Jul 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB082526.1, SRR1803615.156200.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000238616.10/ ENSP00000238616.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Pleiotropic regulator of mitotic progression, participating in the control of spindle dynamics and chromosome separation. Phosphorylates different histones, myelin basic protein, beta-casein, and BICD2. Phosphorylates histone H3 on serine and threonine residues and beta-casein on serine residues. Important for G1/S transition and S phase progression. Phosphorylates NEK6 and NEK7 and stimulates their activity by releasing the autoinhibitory functions of Tyr-108 and Tyr-97 respectively. ATP + a protein = ADP + a phosphoprotein. Magnesium. Activated during mitosis by intramolecular autophosphorylation. Activity and autophosphorylation is activated by manganese >> magnesium ions. Sensitive to increasing concentration of detergents. It is not cell-cycle regulated but activity is higher in G0-arrested cells. Homodimer. Binds to Ran GTPase. Has a greater affinity for Ran-GDP over Ran-GTP. Interacts with NEK6, NEK7 and BICD2. Interacts with SSRP1 and SUPT16H, the 2 subunits of the FACT complex. O95166:GABARAP; NbExp=5; IntAct=EBI-1044009, EBI-712001; Q9H0R8:GABARAPL1; NbExp=6; IntAct=EBI-1044009, EBI-746969; P60520:GABARAPL2; NbExp=4; IntAct=EBI-1044009, EBI-720116; Q9GZQ8:MAP1LC3B; NbExp=2; IntAct=EBI-1044009, EBI-373144; Q9BXW4:MAP1LC3C; NbExp=2; IntAct=EBI-1044009, EBI-2603996; Cytoplasm. Nucleus. Most abundant in heart, liver, kidney and testis. Also expressed in smooth muscle cells and fibroblasts. Expression varied mildly across the cell cycle, with highest expression observed in G1 and stationary-phase cells. Dimerizes through its coiled-coil domain. Autophosphorylated on serine and threonine residues. When complexed with FACT, exhibits markedly elevated phosphorylation on Thr-210. During mitosis, not phosphorylated on Thr-210. Phosphorylated by CDK1 in vitro. Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily. Contains 1 protein kinase domain. Contains 6 RCC1 repeats. Sequence=AAD31936.1; Type=Erroneous gene model prediction; Sequence=BAC02704.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; nucleotide binding protein kinase activity protein serine/threonine kinase activity protein binding ATP binding nucleus cytoplasm cytosol protein phosphorylation cell cycle mitotic nuclear envelope disassembly kinase activity phosphorylation transferase activity protein kinase binding metal ion binding cell division centrosome uc001xrl.1 uc001xrl.2 uc001xrl.3 uc001xrl.4 uc001xrl.5 
ENST00000238647.5 IRF2BPL ENST00000238647.5 Homo sapiens interferon regulatory factor 2 binding protein like (IRF2BPL), mRNA. (from RefSeq NM_024496) C14orf4 EAP1 ENST00000238647.1 ENST00000238647.2 ENST00000238647.3 ENST00000238647.4 I2BPL_HUMAN KIAA1865 My039 NM_024496 Q8NDQ2 Q96JG2 Q9H1B7 Q9H3I7 uc001xsy.1 uc001xsy.2 uc001xsy.3 uc001xsy.4 uc001xsy.5 This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]. ##Evidence-Data-START## Transcript is intronless :: BC108292.1, SRR7346977.1572721.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000238647.5/ ENSP00000238647.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May contribute to the control of female reproductive function (By similarity). May play a role in gene transcription by transactivating GNRH1 promoter and repressing PENK promoter. Nucleus (By similarity). Highly expressed in the heart, moderately in skeletal muscle and pancreas, and weakly in brain, kidney, liver, testis, thyroid gland and lymphocytes. The poly-Gln region is polymorphic; the most frequent allele contained 24 Gln. Stretches of 20-31 Gln are observed in healthy individuals. Belongs to the IRF2BP family. Contains 1 RING-type zinc finger. Sequence=BAB47494.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding molecular_function protein binding extracellular space nucleus nucleoplasm nervous system development protein ubiquitination transferase activity positive regulation of transcription from RNA polymerase II promoter development of secondary female sexual characteristics metal ion binding ubiquitin protein ligase activity uc001xsy.1 uc001xsy.2 uc001xsy.3 uc001xsy.4 uc001xsy.5 
ENST00000238651.10 ACOT2 ENST00000238651.10 Homo sapiens acyl-CoA thioesterase 2 (ACOT2), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_006821) ACOT2_HUMAN ENST00000238651.1 ENST00000238651.2 ENST00000238651.3 ENST00000238651.4 ENST00000238651.5 ENST00000238651.6 ENST00000238651.7 ENST00000238651.8 ENST00000238651.9 NM_006821 P49753 PTE2 PTE2A Q3I5F8 Q53EK4 Q9NUX4 uc001xon.1 uc001xon.2 uc001xon.3 uc001xon.4 uc001xon.5 uc001xon.6 uc001xon.7 This gene encodes a member of the acyl-CoA thioesterase protein family, and is one of four acyl-CoA hydrolase genes located in a cluster on chromosome 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]. Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Displays high levels of activity on medium- and long chain acyl CoAs. Palmitoyl-CoA + H(2)O = CoA + palmitate. Kinetic parameters: KM=40.3 uM for C10-acyl-CoA; KM=8.9 uM for C12-acyl-CoA; KM=1.6 uM for C14-acyl-CoA; KM=2.0 uM for C16-acyl-CoA; KM=2.8 uM for C18-acyl-CoA; KM=4.8 uM for C20-acyl-CoA; KM=4.5 uM for C16:1-acyl-CoA; KM=6.1 uM for C18:1-acyl-CoA; KM=4.3 uM for C18:1-trans-acyl-CoA; Vmax=212 nmol/min/mg enzyme toward C10-acyl-CoA; Vmax=681 nmol/min/mg enzyme toward C12-acyl-CoA; Vmax=766 nmol/min/mg enzyme toward C14-acyl-CoA; Vmax=656 nmol/min/mg enzyme toward C16-acyl-CoA; Vmax=488 nmol/min/mg enzyme toward C18-acyl-CoA; Vmax=408 nmol/min/mg enzyme toward C20-acyl-CoA; Vmax=661 nmol/min/mg enzyme toward C16:1-acyl-CoA; Vmax=304 nmol/min/mg enzyme toward C18:1-acyl-CoA; Vmax=418 nmol/min/mg enzyme toward C18:1-trans-acyl-CoA; Mitochondrion. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P49753-1; Sequence=Displayed; Name=2; IsoId=P49753-2; Sequence=VSP_012225, VSP_012226; Strongest expression in heart, liver, muscle and kidney. Weak in placenta and pancreas. Belongs to the C/M/P thioester hydrolase family. Was originally (PubMed:10944470) thought to be peroxisomal but was later shown (PubMed:16940157) to be mitochondrial. Sequence=AAC42007.1; Type=Frameshift; Positions=215, 226; very long-chain fatty acid metabolic process long-chain fatty acid metabolic process protein binding mitochondrion mitochondrial matrix peroxisomal matrix cytosol protein targeting to peroxisome lipid metabolic process fatty acid metabolic process acyl-CoA metabolic process palmitoyl-CoA hydrolase activity hydrolase activity thiolester hydrolase activity acyl-CoA hydrolase activity carboxylic ester hydrolase activity uc001xon.1 uc001xon.2 uc001xon.3 uc001xon.4 uc001xon.5 uc001xon.6 uc001xon.7 
ENST00000238667.9 FLVCR2 ENST00000238667.9 Homo sapiens FLVCR heme transporter 2 (FLVCR2), transcript variant 1, mRNA. (from RefSeq NM_017791) B7Z485 C14orf58 ENST00000238667.1 ENST00000238667.2 ENST00000238667.3 ENST00000238667.4 ENST00000238667.5 ENST00000238667.6 ENST00000238667.7 ENST00000238667.8 FLVC2_HUMAN NM_017791 Q53ZT9 Q96JY3 Q9NX90 Q9UPI3 uc001xrs.1 uc001xrs.2 uc001xrs.3 uc001xrs.4 This gene encodes a member of the major facilitator superfamily. The encoded transmembrane protein is a calcium transporter. Unlike the related protein feline leukemia virus subgroup C receptor 1, the protein encoded by this locus does not bind to feline leukemia virus subgroup C envelope protein. The encoded protein may play a role in development of brain vascular endothelial cells, as mutations at this locus have been associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Aug 2010]. Acts as an importer of heme. Also acts as a transporter for a calcium-chelator complex, important for growth and calcium metabolism. Cell membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UPI3-1; Sequence=Displayed; Name=2; IsoId=Q9UPI3-2; Sequence=VSP_043048, VSP_043049; Note=No experimental confirmation available; Expressed in non-hematopoietic tissues, with relative abundant expression in brain, placenta, lung, liver and kidney. Also expressed in hematopoietic tissues (fetal liver, spleen, lymph node, thymus, leukocytes and bone marrow). Found in acidophil cells of the pituitary that secrete growth hormone and prolactin. Defects in FLVCR2 are the cause of proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]. It is a rare prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. Hydranencephaly is a condition where the greater portions of the cerebral hemispheres and corpus striatum are replaced by cerebrospinal fluid and glial tissue. Belongs to the major facilitator superfamily. Feline leukemia virus subgroup C receptor (TC 2.A.1.28.1) family. Sequence=BAB55381.1; Type=Erroneous initiation; plasma membrane integral component of plasma membrane heme transporter activity membrane integral component of membrane heme binding transmembrane transport heme export uc001xrs.1 uc001xrs.2 uc001xrs.3 uc001xrs.4 
ENST00000238714.8 PAPOLG ENST00000238714.8 Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA. (from RefSeq NM_022894) B2RBH4 ENST00000238714.1 ENST00000238714.2 ENST00000238714.3 ENST00000238714.4 ENST00000238714.5 ENST00000238714.6 ENST00000238714.7 NM_022894 PAP2 PAPG PAPOG_HUMAN Q969N1 Q9BWT3 Q9H8L2 Q9HAD0 uc002sai.1 uc002sai.2 uc002sai.3 uc002sai.4 uc002sai.5 This gene encodes a member of the poly(A) polymerase family which catalyzes template-independent extension of the 3' end of a DNA/RNA strand. This enzyme shares 60% identity to the well characterized poly(A) polymerase II (PAPII) at the amino acid level. These two enzymes have similar organization of structural and functional domains. This enzyme is exclusively localized in the nucleus and exhibits both nonspecific and CPSF (cleavage and polyadenylation specificity factor)/AAUAAA-dependent polyadenylation activity. This gene is located on chromosome 2 in contrast to the PAPII gene, which is located on chromosome 14. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1803615.233884.1, SRR1803612.281775.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000238714.8/ ENSP00000238714.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Responsible for the post-transcriptional adenylation of the 3'-terminal of mRNA precursors and several small RNAs including signal recognition particle (SRP) RNA, nuclear 7SK RNA, U2 small nuclear RNA, and ribosomal 5S RNA. ATP + RNA(n) = diphosphate + RNA(n+1). Binds 2 magnesium ions. Also active with manganese (By similarity). Nucleus. Expressed predominantly in testis, and weakly in other tissues. Overexpressed in several tumors. Belongs to the poly(A) polymerase family. Sequence=BAB14604.1; Type=Erroneous initiation; nucleotide binding RNA binding polynucleotide adenylyltransferase activity ATP binding nucleus nucleoplasm cytosol mRNA polyadenylation mRNA processing membrane nuclear body transferase activity nucleotidyltransferase activity RNA 3'-end processing RNA polyadenylation metal ion binding uc002sai.1 uc002sai.2 uc002sai.3 uc002sai.4 uc002sai.5 
ENST00000238738.9 RHOQ ENST00000238738.9 Homo sapiens ras homolog family member Q (RHOQ), mRNA. (from RefSeq NM_012249) ENST00000238738.1 ENST00000238738.2 ENST00000238738.3 ENST00000238738.4 ENST00000238738.5 ENST00000238738.6 ENST00000238738.7 ENST00000238738.8 NM_012249 V9HWD0 uc002rva.1 uc002rva.2 uc002rva.3 uc002rva.4 uc002rva.5 This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The encoded protein is an important signalling protein for sarcomere assembly and has been shown to play a significant role in the exocytosis of the solute carrier family 2, facilitated glucose transporter member 4 and other proteins, possibly acting as the signal that turns on the membrane fusion machinery. Three related pseudogene have been identified on chromosomes 2 and 14. [provided by RefSeq, Aug 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: EU794657.1, SRR1660807.165339.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000238738.9/ ENSP00000238738.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## uc002rva.1 uc002rva.2 uc002rva.3 uc002rva.4 uc002rva.5 
ENST00000238788.14 TMEM214 ENST00000238788.14 Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA. (from RefSeq NM_017727) A6NNF2 B3KUI9 B5MCD8 D6W547 ENST00000238788.1 ENST00000238788.10 ENST00000238788.11 ENST00000238788.12 ENST00000238788.13 ENST00000238788.2 ENST00000238788.3 ENST00000238788.4 ENST00000238788.5 ENST00000238788.6 ENST00000238788.7 ENST00000238788.8 ENST00000238788.9 NM_017727 PP446 Q53SW1 Q69YH4 Q6NUQ4 Q8NC45 Q8WZ37 Q9NXH2 TM214_HUMAN uc002ria.1 uc002ria.2 uc002ria.3 uc002ria.4 uc002ria.5 uc002ria.6 O15116:LSM1; NbExp=1; IntAct=EBI-372318, EBI-347619; Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6NUQ4-1; Sequence=Displayed; Name=2; IsoId=Q6NUQ4-2; Sequence=VSP_041155; Belongs to the TMEM214 family. Sequence=AAL55739.1; Type=Erroneous initiation; Sequence=BAA91038.1; Type=Erroneous initiation; Sequence=BAC11331.1; Type=Frameshift; Positions=94; Sequence=CAH10591.1; Type=Erroneous initiation; endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus cytosol cytoplasmic microtubule apoptotic process membrane integral component of membrane uc002ria.1 uc002ria.2 uc002ria.3 uc002ria.4 uc002ria.5 uc002ria.6 
ENST00000238789.10 ATAD2B ENST00000238789.10 Homo sapiens ATPase family AAA domain containing 2B (ATAD2B), transcript variant 3, non-coding RNA. (from RefSeq NR_125717) ATD2B_HUMAN B9ZVQ5 ENST00000238789.1 ENST00000238789.2 ENST00000238789.3 ENST00000238789.4 ENST00000238789.5 ENST00000238789.6 ENST00000238789.7 ENST00000238789.8 ENST00000238789.9 KIAA1240 NR_125717 Q6ZNA6 Q8N9E7 Q9ULI0 uc002rek.1 uc002rek.2 uc002rek.3 uc002rek.4 uc002rek.5 uc002rek.6 The protein encoded by this gene belongs to the AAA ATPase family. This family member includes an N-terminal bromodomain. It has been found to be localized to the nucleus, partly to replication sites, consistent with a chromatin-related function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]. ##Evidence-Data-START## Transcript exon combination :: BC171846.1 [ECO:0000332] ##Evidence-Data-END## Binds acetylated lysine residues in histone H1.4, H2A, H2B, H3 and H4 (in vitro). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9ULI0-1; Sequence=Displayed; Name=2; IsoId=Q9ULI0-2; Sequence=VSP_023276; Belongs to the AAA ATPase family. Contains 1 bromo domain. Sequence=BAD18469.1; Type=Erroneous initiation; Note=Translation N-terminally extended; nucleotide binding chromatin binding ATP binding nucleus nucleoplasm ATPase activity negative regulation of chromatin silencing histone binding positive regulation of transcription from RNA polymerase II promoter lysine-acetylated histone binding uc002rek.1 uc002rek.2 uc002rek.3 uc002rek.4 uc002rek.5 uc002rek.6 
ENST00000238823.13 FAM98A ENST00000238823.13 Homo sapiens family with sequence similarity 98 member A (FAM98A), transcript variant 1, mRNA. (from RefSeq NM_015475) B2RNA2 ENST00000238823.1 ENST00000238823.10 ENST00000238823.11 ENST00000238823.12 ENST00000238823.2 ENST00000238823.3 ENST00000238823.4 ENST00000238823.5 ENST00000238823.6 ENST00000238823.7 ENST00000238823.8 ENST00000238823.9 FA98A_HUMAN NM_015475 Q8NCA5 Q9Y3Y6 uc002rpa.1 uc002rpa.2 uc002rpa.3 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8NCA5-1; Sequence=Displayed; Name=2; IsoId=Q8NCA5-2; Sequence=VSP_039184; Belongs to the FAM98 family. RNA binding protein binding protein methylation protein methyltransferase activity positive regulation of cell proliferation positive regulation of gene expression lysosome localization tRNA-splicing ligase complex positive regulation of ruffle assembly uc002rpa.1 uc002rpa.2 uc002rpa.3 
ENST00000238831.9 YIPF4 ENST00000238831.9 Homo sapiens Yip1 domain family member 4 (YIPF4), mRNA. (from RefSeq NM_032312) ENST00000238831.1 ENST00000238831.2 ENST00000238831.3 ENST00000238831.4 ENST00000238831.5 ENST00000238831.6 ENST00000238831.7 ENST00000238831.8 NM_032312 Nbla11189 Q9BSR8 YIPF4_HUMAN uc002rok.1 uc002rok.2 uc002rok.3 uc002rok.4 uc002rok.5 Involved in the maintenance of the Golgi structure. Interacts with YIPF3. Golgi apparatus, cis-Golgi network membrane; Multi-pass membrane protein. Belongs to the YIP1 family. protein binding endoplasmic reticulum Golgi apparatus plasma membrane membrane integral component of membrane intracellular membrane-bounded organelle uc002rok.1 uc002rok.2 uc002rok.3 uc002rok.4 uc002rok.5 
ENST00000238856.8 AFTPH ENST00000238856.8 Homo sapiens aftiphilin (AFTPH), transcript variant 2, mRNA. (from RefSeq NM_017657) AFTH AFTIN_HUMAN D6W5E9 ENST00000238856.1 ENST00000238856.2 ENST00000238856.3 ENST00000238856.4 ENST00000238856.5 ENST00000238856.6 ENST00000238856.7 NM_017657 Q6ULP2 Q6ZM66 Q86VW3 Q8TCF3 Q9H7E3 Q9HAB9 Q9NXS4 uc002sdb.1 uc002sdb.2 uc002sdb.3 uc002sdb.4 uc002sdb.5 May play a role in membrane trafficking. Interacts with GGA1, GGA3, AP1G1 and AP1G2 via their GAE domain. Cytoplasm. Note=Colocalizes with AP1G1 and clathrin. Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q6ULP2-1; Sequence=Displayed; Name=2; IsoId=Q6ULP2-2; Sequence=VSP_013238; Name=3; IsoId=Q6ULP2-3; Sequence=VSP_013239, VSP_013240; Note=May be due to intron retention. No experimental confirmation available; Name=4; IsoId=Q6ULP2-4; Sequence=VSP_013241; Name=5; IsoId=Q6ULP2-5; Sequence=VSP_013238, VSP_013241; The WXXF motifs mediate binding of accessory proteins to the ear-domain of AP-1, GGAs and AP-2 through hydrophobic interactions. Selective binding to the GAE domains of AP-1 or to the alpha-ear domain of AP-2 is tuned by the acidic context surrounding the motif and the properties of the second residue of the motif itself (By similarity). Sequence=AAH22247.1; Type=Frameshift; Positions=919; Sequence=BAB13930.1; Type=Erroneous initiation; Sequence=BAB14949.1; Type=Erroneous initiation; nucleus cytoplasm Golgi apparatus cytosol protein transport AP-1 adaptor complex clathrin binding trans-Golgi network membrane intracellular membrane-bounded organelle intracellular transport uc002sdb.1 uc002sdb.2 uc002sdb.3 uc002sdb.4 uc002sdb.5 
ENST00000238875.10 LGALSL ENST00000238875.10 Homo sapiens galectin like (LGALSL), mRNA. (from RefSeq NM_014181) B2RBG8 D6W5E8 ENST00000238875.1 ENST00000238875.2 ENST00000238875.3 ENST00000238875.4 ENST00000238875.5 ENST00000238875.6 ENST00000238875.7 ENST00000238875.8 ENST00000238875.9 GRP HSPC159 LEGL_HUMAN NM_014181 Q3ZCW2 Q6P5T6 Q9P005 uc002scy.1 uc002scy.2 uc002scy.3 uc002scy.4 uc002scy.5 uc002scy.6 Does not bind lactose, and may not bind carbohydrates. Monomer (Probable). Contains 1 galectin domain. Most of the residues in the galectin domain that have been shown to be critical for carbohydrate-binding in other galectins are not conserved. protein binding intracellular cytoplasm carbohydrate binding uc002scy.1 uc002scy.2 uc002scy.3 uc002scy.4 uc002scy.5 uc002scy.6 
ENST00000238892.4 CRIPT ENST00000238892.4 Homo sapiens CXXC repeat containing interactor of PDZ3 domain (CRIPT), mRNA. (from RefSeq NM_014171) CRIPT_HUMAN ENST00000238892.1 ENST00000238892.2 ENST00000238892.3 HSPC139 NM_014171 Q9P021 uc002rve.1 uc002rve.2 uc002rve.3 uc002rve.4 uc002rve.5 uc002rve.6 This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies. [provided by RefSeq, Jun 2014]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7346977.2652604.1, SRR5189655.140977.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000238892.4/ ENSP00000238892.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in the cytoskeletal anchoring of DLG4 in excitatory synapses (By similarity). Interacts with TUBB1. Interacts strongly with the PDZ3 domain of members of the DLG4 family. Associates with microtubules (By similarity). Interacts with DLG4. Cytoplasm (By similarity). Cell junction, synapse (By similarity). Cell projection, dendritic spine (By similarity). Note=Colocalizes with DLG4 in asymmetric synapses (By similarity). Belongs to the CRIPT family. fibrillar center protein binding nucleus nucleolus cytoplasm microtubule binding postsynaptic density cell junction PDZ domain binding dendrite cytoplasmic microtubule organization protein localization to microtubule cell projection neuronal cell body dendritic spine dendritic shaft macromolecular complex binding establishment of protein localization synapse scaffold protein binding regulation of postsynaptic density protein 95 clustering uc002rve.1 uc002rve.2 uc002rve.3 uc002rve.4 uc002rve.5 uc002rve.6 
ENST00000238936.8 MFSD13A ENST00000238936.8 Homo sapiens major facilitator superfamily domain containing 13A (MFSD13A), mRNA. (from RefSeq NM_024789) C10orf77 ENST00000238936.1 ENST00000238936.2 ENST00000238936.3 ENST00000238936.4 ENST00000238936.5 ENST00000238936.6 ENST00000238936.7 NM_024789 Q14CX5 Q6NWM8 Q6NWM9 Q6PEZ7 Q9H679 TM180_HUMAN TMEM180 uc001kvt.1 uc001kvt.2 uc001kvt.3 uc001kvt.4 Membrane; Multi-pass membrane protein (Potential). Sequence=AAH67530.2; Type=Erroneous initiation; Sequence=AAH67531.2; Type=Erroneous initiation; Sequence=BAB15385.1; Type=Erroneous initiation; Sequence=CAI12524.1; Type=Erroneous gene model prediction; membrane integral component of membrane uc001kvt.1 uc001kvt.2 uc001kvt.3 uc001kvt.4 
ENST00000238961.9 SLF2 ENST00000238961.9 Homo sapiens SMC5-SMC6 complex localization factor 2 (SLF2), transcript variant 1, mRNA. (from RefSeq NM_018121) A8K950 C10orf6 ENST00000238961.1 ENST00000238961.2 ENST00000238961.3 ENST00000238961.4 ENST00000238961.5 ENST00000238961.6 ENST00000238961.7 ENST00000238961.8 F178A_HUMAN FAM178A NM_018121 Q5W0L8 Q8IX21 Q9NPE8 uc001krt.1 uc001krt.2 uc001krt.3 uc001krt.4 uc001krt.5 uc001krt.6 Widely expressed. Expressed at higher level in skeletal muscle and at slightly lower level in brain, liver and heart, than in lung, kidney, spleen and thymus. Phosphorylated upon DNA damage, probably by ATM or ATR. Localized in the locus associated with inherited infantile onset spinocerebellar ataxia (IOSCA). No mutation were found associated with IOSCA compared to control subjects. The expression level in the brain was not different between the 2 populations. Belongs to the FAM178 family. Sequence=BAA91657.1; Type=Erroneous initiation; chromatin protein binding nucleus DNA repair cellular response to DNA damage stimulus positive regulation of protein complex assembly ubiquitin protein ligase binding positive regulation of maintenance of mitotic sister chromatid cohesion site of double-strand break intracellular membrane-bounded organelle macromolecular complex binding protein localization to site of double-strand break positive regulation of double-strand break repair uc001krt.1 uc001krt.2 uc001krt.3 uc001krt.4 uc001krt.5 uc001krt.6 
ENST00000238983.9 LIPF ENST00000238983.9 Homo sapiens lipase F, gastric type (LIPF), transcript variant 2, mRNA. (from RefSeq NM_004190) ENST00000238983.1 ENST00000238983.2 ENST00000238983.3 ENST00000238983.4 ENST00000238983.5 ENST00000238983.6 ENST00000238983.7 ENST00000238983.8 LIPG_HUMAN NM_004190 P07098 Q2M1P6 Q5VXI7 uc001kfg.1 uc001kfg.2 uc001kfg.3 uc001kfg.4 This gene encodes gastric lipase, an enzyme involved in the digestion of dietary triglycerides in the gastrointestinal tract, and responsible for 30% of fat digestion processes occurring in human. It is secreted by gastric chief cells in the fundic mucosa of the stomach, and it hydrolyzes the ester bonds of triglycerides under acidic pH conditions. The gene is a member of a conserved gene family of lipases that play distinct roles in neutral lipid metabolism. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]. Triacylglycerol + H(2)O = diacylglycerol + a carboxylate. Secreted. Belongs to the AB hydrolase superfamily. Lipase family. Sequence=CAA29414.1; Type=Erroneous initiation; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/lipf/"; triglyceride lipase activity cellular_component extracellular region mitochondrion malate metabolic process lipid metabolic process triglyceride metabolic process lipid binding lipid catabolic process malate dehydrogenase activity hydrolase activity hydrolase activity, acting on ester bonds intracellular membrane-bounded organelle oxidation-reduction process uc001kfg.1 uc001kfg.2 uc001kfg.3 uc001kfg.4 
ENST00000238994.6 PPP1R3C ENST00000238994.6 Homo sapiens protein phosphatase 1 regulatory subunit 3C (PPP1R3C), mRNA. (from RefSeq NM_005398) B2R7X0 ENST00000238994.1 ENST00000238994.2 ENST00000238994.3 ENST00000238994.4 ENST00000238994.5 NM_005398 O95686 PPP1R5 PPR3C_HUMAN Q9UQK1 uc001kho.1 uc001kho.2 uc001kho.3 uc001kho.4 uc001kho.5 This gene encodes a carbohydrate binding protein that is a subunit of the protein phosphatase 1 (PP1) complex. PP1 catalyzes reversible protein phosphorylation, which is important in a wide range of cellular activities. The encoded protein affects glycogen biosynthesis by activating glycogen synthase and limiting glycogen breakdown by reducing glycogen phosphorylase activity. DNA hypermethylation of this gene has been found in colorectal cancer patients. The encoded protein also interacts with the laforin protein, which is a protein tyrosine phosphatase implicated in Lafora disease. [provided by RefSeq, Sep 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BX537399.1, SRR1660807.165536.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145544, SAMEA2155770 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000238994.6/ ENSP00000238994.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Acts as a glycogen-targeting subunit for PP1 and regulates its activity. Activates glycogen synthase, reduces glycogen phosphorylase activity and limits glycogen breakdown. Dramatically increases basal and insulin-stimulated glycogen synthesis upon overexpression in a variety of cell types. Interacts with PPP1CC catalytic subunit of PP1 and associates with glycogen. Forms complexes with glycogen phosphorylase, glycogen synthase and phosphorylase kinase which is necessary for its regulation of PP1 activity. Also interacts with EPM2A/laforin. O95278:EPM2A; NbExp=5; IntAct=EBI-2506727, EBI-2506661; The N-terminal region is required for binding to PP1, the central region is required for binding to glycogen and the C- terminal region is required for binding to glycogen phosphorylase, glycogen synthase and phosphorylase kinase (By similarity). Ubiquitinated by NHLRC1/malin in a EPM2A/laforin-dependent manner. Contains 1 CBM21 (carbohydrate binding type-21) domain. Sequence=AAD33215.1; Type=Erroneous gene model prediction; protein serine/threonine phosphatase activity protein binding cytosol carbohydrate metabolic process glycogen metabolic process glycogen biosynthetic process protein dephosphorylation protein phosphatase binding glycogen binding uc001kho.1 uc001kho.2 uc001kho.3 uc001kho.4 uc001kho.5 
ENST00000239032.4 PRLHR ENST00000239032.4 Homo sapiens prolactin releasing hormone receptor (PRLHR), mRNA. (from RefSeq NM_004248) ENST00000239032.1 ENST00000239032.2 ENST00000239032.3 GPR10 GR3 NM_004248 O75194 P49683 PRLHR_HUMAN Q502U8 Q5VXR9 uc001ldp.1 uc001ldp.2 uc001ldp.3 PRLHR is a 7-transmembrane domain receptor for prolactin-releasing hormone (PRLH; MIM 602663) that is highly expressed in anterior pituitary (Ozawa et al., 2002 [PubMed 11923475]).[supplied by OMIM, Mar 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK290461.1, AK313269.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA2145544 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239032.4/ ENSP00000239032.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for prolactin-releasing peptide (PrRP). Implicated in lactation, regulation of food intake and pain-signal processing. Interacts through its C-terminal region with the PDZ domain-containing proteins GRIP1, GRIP2 and PICK1. Interacts with PDZ domains 4 and 5 of GRIP1 and with the PDZ domain of PICK1. Cell membrane; Multi-pass membrane protein. Only detected in the pituitary gland and in all cell types of pituitary adenomas. Repressed by bromocriptine, a dopamine agonist. Belongs to the G-protein coupled receptor 1 family. Sequence=AAC50504.1; Type=Frameshift; Positions=168, 175; G-protein coupled receptor activity neuropeptide Y receptor activity protein binding plasma membrane integral component of plasma membrane cilium signal transduction G-protein coupled receptor signaling pathway neuropeptide signaling pathway female pregnancy feeding behavior neuropeptide receptor activity membrane integral component of membrane hormone metabolic process uc001ldp.1 uc001ldp.2 uc001ldp.3 
ENST00000239144.5 HOXB8 ENST00000239144.5 Homo sapiens homeobox B8 (HOXB8), mRNA. (from RefSeq NM_024016) ENST00000239144.1 ENST00000239144.2 ENST00000239144.3 ENST00000239144.4 HOX2D HXB8_HUMAN NM_024016 P17481 Q9H1I2 uc002inw.1 uc002inw.2 uc002inw.3 uc002inw.4 This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with colorectal cancer. Mice that have had the murine ortholog of this gene knocked out exhibit an excessive pathologic grooming behavior. This behavior is similar to the behavior of humans suffering from the obsessive-compulsive spectrum disorder trichotillomania. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK096222.1, AW517327.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239144.5/ ENSP00000239144.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Expressed in whole embryos and fetuses at 5-9 weeks from conception. Belongs to the Antp homeobox family. Contains 1 homeobox DNA-binding domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated multicellular organism development grooming behavior adult locomotory behavior anterior/posterior pattern specification sensory perception of pain dorsal spinal cord development sequence-specific DNA binding negative regulation of myeloid cell differentiation embryonic skeletal system morphogenesis skeletal system morphogenesis uc002inw.1 uc002inw.2 uc002inw.3 uc002inw.4 
ENST00000239151.6 HOXB5 ENST00000239151.6 Homo sapiens homeobox B5 (HOXB5), mRNA. (from RefSeq NM_002147) B2RC69 ENST00000239151.1 ENST00000239151.2 ENST00000239151.3 ENST00000239151.4 ENST00000239151.5 HOX2A HXB5_HUMAN NM_002147 P09067 P09069 Q17RP4 uc002inr.1 uc002inr.2 uc002inr.3 uc002inr.4 uc002inr.5 This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in lung and gut development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML) and the occurrence of bronchopulmonary sequestration (BPS) and congenital cystic adenomatoid malformation (CCAM) tissue. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BI766494.1, M92299.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Spinal cord. Embryo. Belongs to the Antp homeobox family. Contains 1 homeobox DNA-binding domain. Sequence=AAA52681.1; Type=Erroneous initiation; nuclear chromatin RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding fibrillar center DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus cytosol regulation of transcription, DNA-templated multicellular organism development anatomical structure morphogenesis anterior/posterior pattern specification sequence-specific DNA binding endothelial cell differentiation positive regulation of transcription from RNA polymerase II promoter embryonic skeletal system morphogenesis embryonic skeletal system development uc002inr.1 uc002inr.2 uc002inr.3 uc002inr.4 uc002inr.5 
ENST00000239165.9 HOXB7 ENST00000239165.9 Homo sapiens homeobox B7 (HOXB7), mRNA. (from RefSeq NM_004502) A8K3N8 ENST00000239165.1 ENST00000239165.2 ENST00000239165.3 ENST00000239165.4 ENST00000239165.5 ENST00000239165.6 ENST00000239165.7 ENST00000239165.8 HOX2C HXB7_HUMAN NM_004502 P09629 Q15957 Q53FN3 Q96BQ6 uc002inv.1 uc002inv.2 uc002inv.3 uc002inv.4 uc002inv.5 This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded nuclear protein functions as a sequence-specific transcription factor that is involved in cell proliferation and differentiation. Increased expression of this gene is associated with some cases of melanoma and ovarian carcinoma. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M16937.1, SRR5189655.10159.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239165.9/ ENSP00000239165.7 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. P78527:PRKDC; NbExp=2; IntAct=EBI-1248457, EBI-352053; P13010:XRCC5; NbExp=9; IntAct=EBI-1248457, EBI-357997; Nucleus. Belongs to the Antp homeobox family. Contains 1 homeobox DNA-binding domain. nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm cytosol regulation of transcription, DNA-templated multicellular organism development anterior/posterior pattern specification nuclear body myeloid cell differentiation sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter embryonic skeletal system morphogenesis positive regulation of branching involved in ureteric bud morphogenesis uc002inv.1 uc002inv.2 uc002inv.3 uc002inv.4 uc002inv.5 
ENST00000239174.7 HOXB1 ENST00000239174.7 Homo sapiens homeobox B1 (HOXB1), mRNA. (from RefSeq NM_002144) ENST00000239174.1 ENST00000239174.2 ENST00000239174.3 ENST00000239174.4 ENST00000239174.5 ENST00000239174.6 HOX2I HXB1_HUMAN NM_002144 P14653 uc002ink.1 uc002ink.2 uc002ink.3 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a cluster on chromosome 17. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X16666.1, CN264618.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2158188 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239174.7/ ENSP00000355140.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures. Nucleus. The two common alleles; HOX1B*A and HOX1B*B have a frequency of 78.8% and 21.2% respectively. Defects in HOXB1 are the cause of facial paresis, hereditary congenital, 3 (HCFP3) [MIM:614744]. A form of facial paresis, a disease characterized by isolated dysfunction of the facial nerve (CN VII). HCFP3 patients are affected by bilateral facial palsy, facial muscle weakness of muscles innervated by CN VII, hearing loss, and strabismus. Belongs to the Antp homeobox family. Labial subfamily. Contains 1 homeobox DNA-binding domain. nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding nucleus regulation of transcription, DNA-templated multicellular organism development pattern specification process anatomical structure morphogenesis anterior/posterior pattern specification protein domain specific binding rhombomere development rhombomere 4 development rhombomere 5 development facial nerve structural organization facial nucleus development sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter anatomical structure formation involved in morphogenesis embryonic skeletal system morphogenesis uc002ink.1 uc002ink.2 uc002ink.3 
ENST00000239223.4 DUSP1 ENST00000239223.4 Homo sapiens dual specificity phosphatase 1 (DUSP1), mRNA. (from RefSeq NM_004417) CL100 D3DQL9 DUS1_HUMAN ENST00000239223.1 ENST00000239223.2 ENST00000239223.3 MKP1 NM_004417 P28562 PTPN10 Q2V508 VH1 uc003mbv.1 uc003mbv.2 uc003mbv.3 uc003mbv.4 The protein encoded by this gene is a phosphatase with dual specificity for tyrosine and threonine. The encoded protein can dephosphorylate MAP kinase MAPK1/ERK2, which results in its involvement in several cellular processes. This protein appears to play an important role in the human cellular response to environmental stress as well as in the negative regulation of cellular proliferation. Finally, the encoded protein can make some solid tumors resistant to both chemotherapy and radiotherapy, making it a target for cancer therapy. [provided by RefSeq, Aug 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC022463.1, X68277.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142670 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239223.4/ ENSP00000239223.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Dual specificity phosphatase that dephosphorylates MAP kinase MAPK1/ERK2 on both 'Thr-183' and 'Tyr-185'. Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate. A phosphoprotein + H(2)O = a protein + phosphate. P28482:MAPK1; NbExp=3; IntAct=EBI-975493, EBI-959949; Q13309:SKP2; NbExp=3; IntAct=EBI-975493, EBI-456291; P0CG47:UBB; NbExp=2; IntAct=EBI-975493, EBI-413034; Expressed at high levels in the lung, liver placenta and pancreas. Moderate levels seen in the heart and skeletal muscle. Lower levels found in the brain and kidney. By oxidative stress and heat shock. Phosphorylation at Ser-359 and Ser-364 by MAPK1/ERK2 and MAPK3/ERK1 reduces its rate of degradation (By similarity). Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. Contains 1 rhodanese domain. Contains 1 tyrosine-protein phosphatase domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/dusp1/"; inactivation of MAPK activity phosphoprotein phosphatase activity protein serine/threonine phosphatase activity protein tyrosine phosphatase activity protein binding nucleus cytoplasm protein dephosphorylation cell cycle negative regulation of cell adhesion protein tyrosine/serine/threonine phosphatase activity negative regulation of cell proliferation protein tyrosine/threonine phosphatase activity response to light stimulus response to organic substance dephosphorylation hydrolase activity phosphatase activity MAP kinase tyrosine/serine/threonine phosphatase activity growth factor binding response to estradiol response to retinoic acid cellular response to hormone stimulus response to testosterone peptidyl-tyrosine dephosphorylation intracellular signal transduction peptidyl-threonine dephosphorylation response to hydrogen peroxide positive regulation of apoptotic process negative regulation of apoptotic process negative regulation of MAP kinase activity negative regulation of MAPK cascade mitogen-activated protein kinase binding response to glucocorticoid negative regulation of meiotic cell cycle response to cAMP response to calcium ion peptidyl-serine dephosphorylation negative regulation of ERK1 and ERK2 cascade mitotic cell cycle arrest negative regulation of monocyte chemotaxis regulation of mitotic cell cycle spindle assembly checkpoint negative regulation of p38MAPK cascade cellular response to chemokine negative regulation of DNA biosynthetic process uc003mbv.1 uc003mbv.2 uc003mbv.3 uc003mbv.4 
ENST00000239231.7 PANK3 ENST00000239231.7 Homo sapiens pantothenate kinase 3 (PANK3), mRNA. (from RefSeq NM_024594) D3DQL1 ENST00000239231.1 ENST00000239231.2 ENST00000239231.3 ENST00000239231.4 ENST00000239231.5 ENST00000239231.6 NM_024594 PANK3_HUMAN Q53FJ9 Q7RTX4 Q9H999 uc003lzy.1 uc003lzy.2 uc003lzy.3 uc003lzy.4 uc003lzy.5 This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is expressed most abundantly in the liver. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.11331.1, SRR3476690.841492.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239231.7/ ENSP00000239231.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays a role in the physiological regulation of the intracellular CoA concentration (By similarity). ATP + (R)-pantothenate = ADP + (R)-4'- phosphopantothenate. Regulated by feedback inhibition by CoA and its thioesters (By similarity). Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 1/5. Cytoplasm (Probable). Highly expressed in the liver. Belongs to the type II pantothenate kinase family. nucleotide binding pantothenate kinase activity ATP binding nucleus cytoplasm cytosol coenzyme A biosynthetic process kinase activity phosphorylation transferase activity vitamin binding protein homodimerization activity acetyl-CoA binding uc003lzy.1 uc003lzy.2 uc003lzy.3 uc003lzy.4 uc003lzy.5 
ENST00000239243.7 MSX2 ENST00000239243.7 Homo sapiens msh homeobox 2 (MSX2), transcript variant 1, mRNA. (from RefSeq NM_002449) D3DQN1 ENST00000239243.1 ENST00000239243.2 ENST00000239243.3 ENST00000239243.4 ENST00000239243.5 ENST00000239243.6 HOX8 MSX2_HUMAN NM_002449 P35548 Q53XM4 Q9UD60 uc003mcy.1 uc003mcy.2 uc003mcy.3 uc003mcy.4 uc003mcy.5 This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper craniofacial morphogenesis. The encoded protein may also have a role in promoting cell growth under certain conditions and may be an important target for the RAS signaling pathways. Mutations in this gene are associated with parietal foramina 1 and craniosynostosis type 2. [provided by RefSeq, Jul 2008]. Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antogonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Probable morphogenetic role. May play a role in limb-pattern formation. In osteoblasts, suppresses transcription driven by the osteocalcin FGF response element (OCFRE). Binds to the homeodomain-response element of the ALPL promoter. Interacts with MINT (By similarity). Interacts with XRCC6 (Ku70) and XRCC5 (Ku80). Nucleus. Defects in MSX2 are the cause of parietal foramina 1 (PFM1) [MIM:168500]; also known as foramina parietalia permagna (FPP). PFM1 is an autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month. Defects in MSX2 are the cause of parietal foramina with cleidocranial dysplasia (PFMCCD) [MIM:168550]; also known as cleidocranial dysplasia with parietal foramina. PFMCCD combines skull defects in the form of enlarged parietal foramina and deficient ossification of the clavicles. Defects in MSX2 are the cause of craniosynostosis type 2 (CRS2) [MIM:604757]; also known as craniosynostosis Boston-type (CSB). CRS2 is an autosomal dominant disorder characterized by the premature fusion of calvarial sutures. The craniosynostosis phenotype is either fronto-orbital recession, or frontal bossing, or turribrachycephaly, or cloverleaf skull. Associated features include severe headache, high incidence of visual problems (myopia or hyperopia), and short first metatarsals. Intelligence is normal. Belongs to the Msh homeobox family. Contains 1 homeobox DNA-binding domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MSX2"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding ossification osteoblast differentiation chondrocyte development osteoblast development outflow tract septum morphogenesis outflow tract morphogenesis epithelial to mesenchymal transition involved in endocardial cushion formation endochondral bone growth DNA binding transcription cofactor activity protein binding nucleus cytosol regulation of transcription, DNA-templated multicellular organism development transcription factor binding negative regulation of cell proliferation anterior/posterior pattern specification nuclear speck signal transduction involved in regulation of gene expression embryonic limb morphogenesis BMP signaling pathway positive regulation of BMP signaling pathway negative regulation of CREB transcription factor activity embryonic forelimb morphogenesis embryonic hindlimb morphogenesis wound healing, spreading of epidermal cells embryonic nail plate morphogenesis wound healing odontogenesis embryonic digit morphogenesis regulation of apoptotic process negative regulation of apoptotic process sequence-specific DNA binding transcription regulatory region DNA binding negative regulation of fat cell differentiation negative regulation of keratinocyte differentiation positive regulation of osteoblast differentiation negative regulation of transcription, DNA-templated embryonic morphogenesis stem cell differentiation cartilage development positive regulation of catagen bone trabecula formation bone morphogenesis cranial suture morphogenesis frontal suture morphogenesis branching involved in mammary gland duct morphogenesis mammary gland epithelium development BMP signaling pathway involved in heart development enamel mineralization cellular response to growth factor stimulus cellular response to estradiol stimulus activation of meiosis negative regulation of transcription regulatory region DNA binding positive regulation of mesenchymal cell apoptotic process uc003mcy.1 uc003mcy.2 uc003mcy.3 uc003mcy.4 uc003mcy.5 
ENST00000239316.4 INSL4 ENST00000239316.4 Homo sapiens insulin like 4 (INSL4), mRNA. (from RefSeq NM_002195) A8K678 ENST00000239316.1 ENST00000239316.2 ENST00000239316.3 INSL4_HUMAN NM_002195 Q14641 Q5W127 uc003ziy.1 uc003ziy.2 uc003ziy.3 uc003ziy.4 INSL4 encodes the insulin-like 4 protein, a member of the insulin superfamily. INSL4 encodes a precursor that undergoes post-translational cleavage to produce 3 polypeptide chains, A-C, that form tertiary structures composed of either all three chains, or just the A and B chains. Expression of INSL4 products occurs within the early placental cytotrophoblast and syncytiotrophoblast. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AU136752.2, AK291543.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142853, SAMEA2146236 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239316.4/ ENSP00000239316.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May play an important role in trophoblast development and in the regulation of bone formation. Secreted (By similarity). Expressed in placenta, uterus and in fetal perichondrium. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Highly expressed in the early placenta. Expression of epil peptides in the villous cytotrophoblast is different from that displayed by the syncytiotrophoblast. In fetal tissues it was identified in the perichondrium of all four limbs, vertebrae, and ribs. It was abundant in interbone ligaments. Belongs to the insulin family. receptor binding insulin-like growth factor receptor binding hormone activity extracellular region extracellular space signal transduction cell-cell signaling positive regulation of chorionic trophoblast cell proliferation uc003ziy.1 uc003ziy.2 uc003ziy.3 uc003ziy.4 
ENST00000239347.3 IFNA7 ENST00000239347.3 Homo sapiens interferon alpha 7 (IFNA7), mRNA. (from RefSeq NM_021057) ENST00000239347.1 ENST00000239347.2 IFNA7_HUMAN NM_021057 P01567 Q14607 Q5VV14 uc003zop.1 Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase. Secreted. Belongs to the alpha/beta interferon family. adaptive immune response T cell activation involved in immune response natural killer cell activation involved in immune response cytokine activity cytokine receptor binding type I interferon receptor binding extracellular region extracellular space defense response humoral immune response cell-cell signaling blood coagulation response to virus cytokine-mediated signaling pathway B cell differentiation positive regulation of peptidyl-serine phosphorylation of STAT protein B cell proliferation response to exogenous dsRNA defense response to virus type I interferon signaling pathway uc003zop.1 
ENST00000239367.7 LRP11 ENST00000239367.7 Homo sapiens LDL receptor related protein 11 (LRP11), mRNA. (from RefSeq NM_032832) ENST00000239367.1 ENST00000239367.2 ENST00000239367.3 ENST00000239367.4 ENST00000239367.5 ENST00000239367.6 LRP11_HUMAN NM_032832 Q5VYC0 Q86VZ4 Q96SN6 uc003qng.1 uc003qng.2 uc003qng.3 uc003qng.4 Membrane; Single-pass type I membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q86VZ4-1; Sequence=Displayed; Name=2; IsoId=Q86VZ4-2; Sequence=VSP_017535, VSP_017536; Note=No experimental confirmation available; Belongs to the LDLR family. Contains 1 LDL-receptor class A domain. Contains 1 MANSC domain. Contains 1 PKD domain. plasma membrane response to heat response to cold response to water deprivation response to mechanical stimulus membrane integral component of membrane multicellular organismal response to stress response to immobilization stress response to starvation phosphoprotein binding uc003qng.1 uc003qng.2 uc003qng.3 uc003qng.4 
ENST00000239374.8 CCDC170 ENST00000239374.8 Homo sapiens coiled-coil domain containing 170 (CCDC170), mRNA. (from RefSeq NM_025059) C6orf97 CC170_HUMAN ENST00000239374.1 ENST00000239374.2 ENST00000239374.3 ENST00000239374.4 ENST00000239374.5 ENST00000239374.6 ENST00000239374.7 NM_025059 Q5VXB7 Q6P9E4 Q8IYT3 Q96KA9 Q9H5M3 uc003qol.1 uc003qol.2 uc003qol.3 uc003qol.4 uc003qol.5 The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC035003.2, SRR1803616.68769.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239374.8/ ENSP00000239374.6 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Sequence=BAB55025.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAH71980.1; Type=Erroneous gene model prediction; Sequence=CAI10943.1; Type=Erroneous gene model prediction; protein binding uc003qol.1 uc003qol.2 uc003qol.3 uc003qol.4 uc003qol.5 
ENST00000239440.9 ARAP3 ENST00000239440.9 Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA. (from RefSeq NM_022481) ARAP3_HUMAN CENTD3 D3DQE3 ENST00000239440.1 ENST00000239440.2 ENST00000239440.3 ENST00000239440.4 ENST00000239440.5 ENST00000239440.6 ENST00000239440.7 ENST00000239440.8 NM_022481 Q8WWN8 uc003llm.1 uc003llm.2 uc003llm.3 uc003llm.4 uc003llm.5 This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AJ310567.1, AK290052.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239440.9/ ENSP00000239440.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members. Is activated by phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) binding. Can be activated by phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4,5)P2) binding, albeit with lower efficiency. Acts on ARF6, RAC1, RHOA and CDC42. Plays a role in the internalization of anthrax toxin. Interacts (via SAM domain) with INPPL1/SHIP2. Cytoplasm (By similarity). Cytoplasm, cytoskeleton (By similarity). Cell membrane; Peripheral membrane protein (By similarity). Cell projection, lamellipodium (By similarity). Cell projection, ruffle (By similarity). Note=Cytoplasmic, and associated with F-actin-rich membrane ruffles and lamellipodia (By similarity). Tyrosine phosphorylated at a low basal level. PDGF treatment stimulates phosphorylation. Tyrosine phosphorylation is increased in cells that are in the process of becoming attached to a substrate and that start spreading and flattening (By similarity). Contains 1 Arf-GAP domain. Contains 3 PH domains. Contains 1 Ras-associating domain. Contains 1 Rho-GAP domain. Contains 1 SAM (sterile alpha motif) domain. ruffle GTPase activator activity protein binding phosphatidylinositol-3,4,5-trisphosphate binding cytoplasm cytosol cytoskeleton plasma membrane cytoskeleton organization signal transduction membrane vesicle-mediated transport lamellipodium cell projection phosphatidylinositol-3,4-bisphosphate binding positive regulation of GTPase activity metal ion binding regulation of small GTPase mediated signal transduction uc003llm.1 uc003llm.2 uc003llm.3 uc003llm.4 uc003llm.5 
ENST00000239444.4 PCDHB8 ENST00000239444.4 Homo sapiens protocadherin beta 8 (PCDHB8), mRNA. (from RefSeq NM_019120) ENST00000239444.1 ENST00000239444.2 ENST00000239444.3 NM_019120 PCDB8_HUMAN PCDH3I Q9UN66 uc011dai.1 uc011dai.2 uc011dai.3 uc011dai.4 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: BC136801.1, SRR1803614.254952.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239444.4/ ENSP00000239444.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. Cell membrane; Single-pass type I membrane protein (By similarity). Contains 6 cadherin domains. calcium ion binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules membrane integral component of membrane identical protein binding metal ion binding uc011dai.1 uc011dai.2 uc011dai.3 uc011dai.4 
ENST00000239446.6 PCDHB10 ENST00000239446.6 Homo sapiens protocadherin beta 10 (PCDHB10), mRNA. (from RefSeq NM_018930) ENST00000239446.1 ENST00000239446.2 ENST00000239446.3 ENST00000239446.4 ENST00000239446.5 NM_018930 PCDBA_HUMAN Q96T99 Q9UN67 UNQ1906/PRO4352 uc003lix.1 uc003lix.2 uc003lix.3 uc003lix.4 uc003lix.5 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: SRR1660805.27693.1, AK315583.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239446.6/ ENSP00000239446.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. Cell membrane; Single-pass type I membrane protein (By similarity). Contains 6 cadherin domains. calcium ion binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules chemical synaptic transmission synapse assembly membrane integral component of membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules uc003lix.1 uc003lix.2 uc003lix.3 uc003lix.4 uc003lix.5 
ENST00000239449.7 PCDHB14 ENST00000239449.7 Homo sapiens protocadherin beta 14 (PCDHB14), mRNA. (from RefSeq NM_018934) ENST00000239449.1 ENST00000239449.2 ENST00000239449.3 ENST00000239449.4 ENST00000239449.5 ENST00000239449.6 NM_018934 PCDBE_HUMAN Q4FZA4 Q4KN11 Q9Y5E9 uc003ljb.1 uc003ljb.2 uc003ljb.3 uc003ljb.4 uc003ljb.5 uc003ljb.6 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. Cell membrane; Single-pass type I membrane protein (By similarity). Contains 6 cadherin domains. calcium ion binding protein binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules chemical synaptic transmission synapse assembly membrane integral component of membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules uc003ljb.1 uc003ljb.2 uc003ljb.3 uc003ljb.4 uc003ljb.5 uc003ljb.6 
ENST00000239450.4 PCDHB12 ENST00000239450.4 Homo sapiens protocadherin beta 12 (PCDHB12), mRNA. (from RefSeq NM_018932) ENST00000239450.1 ENST00000239450.2 ENST00000239450.3 NM_018932 PCDBC_HUMAN Q9Y5F1 uc003liz.1 uc003liz.2 uc003liz.3 uc003liz.4 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: BC045637.1, SRR1660807.225080.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239450.4/ ENSP00000239450.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. Cell membrane; Single-pass type I membrane protein (By similarity). Contains 6 cadherin domains. calcium ion binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules nervous system development membrane integral component of membrane uc003liz.1 uc003liz.2 uc003liz.3 uc003liz.4 
ENST00000239451.7 SLC25A2 ENST00000239451.7 Homo sapiens solute carrier family 25 member 2 (SLC25A2), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_031947) ENST00000239451.1 ENST00000239451.2 ENST00000239451.3 ENST00000239451.4 ENST00000239451.5 ENST00000239451.6 NM_031947 ORNT2 ORNT2_HUMAN Q496C1 Q6XUI0 Q8NFZ2 Q9BXI2 uc003ljf.1 uc003ljf.2 uc003ljf.3 uc003ljf.4 This intronless gene encodes a protein that localizes to the mitochondrial inner membrane and likely functions as a transporter of small molecules such as ornithine. This gene is located between the protocadherin beta and gamma gene clusters on chromosome 5. [provided by RefSeq, Dec 2014]. ##Evidence-Data-START## Transcript is intronless :: SRR5189667.155397.1, AF378119.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000239451.7/ ENSP00000239451.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix. Mitochondrion inner membrane; Multi-pass membrane protein. Expressed in liver, kidney, pancreas and cultured fibroblasts. Variant Cys-159 has a reduced ornithine transport activity, while variant Gly-181 has an increased activity. Belongs to the mitochondrial carrier family. Contains 3 Solcar repeats. urea cycle L-ornithine transmembrane transporter activity mitochondrion mitochondrial inner membrane membrane integral component of membrane mitochondrial L-ornithine transmembrane transport uc003ljf.1 uc003ljf.2 uc003ljf.3 uc003ljf.4 
ENST00000239461.11 PRRX1 ENST00000239461.11 Homo sapiens paired related homeobox 1 (PRRX1), transcript variant pmx-1b, mRNA. (from RefSeq NM_022716) B5BUM7 ENST00000239461.1 ENST00000239461.10 ENST00000239461.2 ENST00000239461.3 ENST00000239461.4 ENST00000239461.5 ENST00000239461.6 ENST00000239461.7 ENST00000239461.8 ENST00000239461.9 NM_022716 O60807 P54821 PMX1 PRRX1_HUMAN uc001ghf.1 uc001ghf.2 uc001ghf.3 uc001ghf.4 uc001ghf.5 The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription co-activator, enhancing the DNA-binding activity of serum response factor, a protein required for the induction of genes by growth and differentiation factors. The protein regulates muscle creatine kinase, indicating a role in the establishment of diverse mesodermal muscle types. Alternative splicing yields two isoforms that differ in abundance and expression patterns. [provided by RefSeq, Jul 2008]. Acts as a transcriptional regulator of muscle creatine kinase (MCK) and so has a role in the establishment of diverse mesodermal muscle types. The protein binds to an A/T-rich element in the muscle creatine enhancer (By similarity). Nucleus. Event=Alternative splicing; Named isoforms=2; Name=PMX1-B; IsoId=P54821-1; Sequence=Displayed; Name=PMX1-A; IsoId=P54821-2; Sequence=VSP_002278; Defects in PRRX1 are the cause of agnathia-otocephaly complex (AGOTC) [MIM:202650]. AGOTC is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal. Belongs to the paired homeobox family. Contains 1 homeobox DNA-binding domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding positive regulation of mesenchymal cell proliferation DNA binding transcription coactivator activity nucleus nucleoplasm cytosol regulation of transcription, DNA-templated multicellular organism development embryonic limb morphogenesis inner ear morphogenesis middle ear morphogenesis sequence-specific DNA binding positive regulation of smoothened signaling pathway positive regulation of transcription from RNA polymerase II promoter neuron fate determination embryonic cranial skeleton morphogenesis embryonic skeletal system morphogenesis artery morphogenesis cartilage development palate development regulation of neuron projection regeneration HMG box domain binding neuronal stem cell population maintenance uc001ghf.1 uc001ghf.2 uc001ghf.3 uc001ghf.4 uc001ghf.5 
ENST00000239462.9 TNN ENST00000239462.9 Homo sapiens tenascin N (TNN), mRNA. (from RefSeq NM_022093) B9EGP3 ENST00000239462.1 ENST00000239462.2 ENST00000239462.3 ENST00000239462.4 ENST00000239462.5 ENST00000239462.6 ENST00000239462.7 ENST00000239462.8 NM_022093 Q5R360 Q9UQP3 TENN_HUMAN uc001gkl.1 uc001gkl.2 Involved in neurite outgrowth and cell migration in hippocampal explants (By similarity). Secreted, extracellular space, extracellular matrix. Belongs to the tenascin family. Contains 3 EGF-like domains. Contains 1 fibrinogen C-terminal domain. Contains 9 fibronectin type-III domains. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TNNID44209ch1q25.html"; osteoblast development molecular_function integrin binding cellular_component extracellular region cell-matrix adhesion axonogenesis cell surface extracellular matrix negative regulation of osteoblast proliferation identical protein binding neuron projection neuronal cell body negative regulation of osteoblast differentiation dendrite self-avoidance CA3 pyramidal cell dendrite negative regulation of canonical Wnt signaling pathway involved in osteoblast differentiation hippocampal mossy fiber expansion negative regulation of neuron migration uc001gkl.1 uc001gkl.2 
ENST00000239587.10 TTLL2 ENST00000239587.10 Homo sapiens tubulin tyrosine ligase like 2 (TTLL2), mRNA. (from RefSeq NM_031949) B2RB11 B3KS77 C6orf104 ENST00000239587.1 ENST00000239587.2 ENST00000239587.3 ENST00000239587.4 ENST00000239587.5 ENST00000239587.6 ENST00000239587.7 ENST00000239587.8 ENST00000239587.9 NM_031949 Q7Z6R8 Q86X22 Q9BWV7 TTLL2_HUMAN uc003qvs.1 uc003qvs.2 uc003qvs.3 Probable tubulin polyglutamylase that forms polyglutamate side chains on tubulin. Probably acts when complexed with other proteins (By similarity). Testis. Belongs to the tubulin--tyrosine ligase family. Contains 1 TTL domain. Product of a dubious CDS prediction. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. nucleotide binding ATP binding cellular protein modification process ligase activity uc003qvs.1 uc003qvs.2 uc003qvs.3 
ENST00000239690.9 NUDCD1 ENST00000239690.9 Homo sapiens NudC domain containing 1 (NUDCD1), transcript variant 1, mRNA. (from RefSeq NM_032869) B4DVX6 CML66 ENST00000239690.1 ENST00000239690.2 ENST00000239690.3 ENST00000239690.4 ENST00000239690.5 ENST00000239690.6 ENST00000239690.7 ENST00000239690.8 NM_032869 NUDC1_HUMAN Q4G130 Q8NDQ5 Q8NG18 Q96RS6 Q96SI4 Q9BVR5 uc003ynb.1 uc003ynb.2 uc003ynb.3 uc003ynb.4 uc003ynb.5 uc003ynb.6 Isoform 1: Cytoplasm. Nucleus. Isoform 2: Cytoplasm. Isoform 3: Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=CML66-L; IsoId=Q96RS6-1; Sequence=Displayed; Name=2; Synonyms=CML66-S; IsoId=Q96RS6-2; Sequence=VSP_052558, VSP_052559; Name=3; IsoId=Q96RS6-3; Sequence=VSP_052557, VSP_052560; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Isoform 1 is specifically expressed in leukemias and a variety of solid tumor cell lines and is also detected in testis and heart. Isoform 2 is predominantly expressed in testis and weakly expressed in tumor cells. Isoform 1 is the dominant immunogenic isoform and is capable of eliciting a humoral response in individuals with a variety of solid tumors. Expression of isoform 1 in a wide variety of malignancies as well as the presence of an immunogenic epitope suggest that it may be a suitable target for antigen-specific immunotherapy. Contains 1 CS domain. immune system process protein binding nucleus nucleoplasm cytoplasm cytosol uc003ynb.1 uc003ynb.2 uc003ynb.3 uc003ynb.4 uc003ynb.5 uc003ynb.6 
ENST00000239830.9 CCDC77 ENST00000239830.9 Homo sapiens coiled-coil domain containing 77 (CCDC77), transcript variant 1, mRNA. (from RefSeq NM_032358) B4DDE8 CCD77_HUMAN ENST00000239830.1 ENST00000239830.2 ENST00000239830.3 ENST00000239830.4 ENST00000239830.5 ENST00000239830.6 ENST00000239830.7 ENST00000239830.8 NM_032358 Q9BR77 uc001qig.1 uc001qig.2 uc001qig.3 uc001qig.4 uc001qig.5 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BR77-1; Sequence=Displayed; Name=2; IsoId=Q9BR77-2; Sequence=VSP_043135; Note=No experimental confirmation available; centrosome membrane uc001qig.1 uc001qig.2 uc001qig.3 uc001qig.4 uc001qig.5 
ENST00000239859.8 CCDC169 ENST00000239859.8 Homo sapiens coiled-coil domain containing 169 (CCDC169), transcript variant 1, mRNA. (from RefSeq NM_001144981) A6NC13 A6NCT2 A6NNP5 B7ZW45 B7ZW49 B9EJF2 C13orf38 CC169_HUMAN ENST00000239859.1 ENST00000239859.2 ENST00000239859.3 ENST00000239859.4 ENST00000239859.5 ENST00000239859.6 ENST00000239859.7 NM_001144981 Q9H1T4 Q9H1T5 uc010abm.1 uc010abm.2 uc010abm.3 uc010abm.4 uc010abm.5 Event=Alternative splicing; Named isoforms=6; Name=1; IsoId=A6NNP5-1; Sequence=Displayed; Name=2; IsoId=A6NNP5-2; Sequence=VSP_035636, VSP_035637; Note=No experimental confirmation available; Name=3; IsoId=A6NNP5-3; Sequence=VSP_040479, VSP_040480; Name=4; IsoId=A6NNP5-4; Sequence=VSP_040480; Name=5; IsoId=A6NNP5-5; Sequence=VSP_040479; Name=6; IsoId=A6NNP5-6; Sequence=VSP_043810, VSP_043811, VSP_040480; Belongs to the CCDC169 family. uc010abm.1 uc010abm.2 uc010abm.3 uc010abm.4 uc010abm.5 
ENST00000239878.9 UFM1 ENST00000239878.9 Homo sapiens ubiquitin fold modifier 1 (UFM1), transcript variant 7, non-coding RNA. (from RefSeq NR_104585) BM-002 C13orf20 ENST00000239878.1 ENST00000239878.2 ENST00000239878.3 ENST00000239878.4 ENST00000239878.5 ENST00000239878.6 ENST00000239878.7 ENST00000239878.8 NR_104585 P61960 Q14346 Q5VXS0 Q6IAG6 Q9CPX2 Q9NZF2 UFM1_HUMAN uc001uwu.1 uc001uwu.2 uc001uwu.3 uc001uwu.4 uc001uwu.5 uc001uwu.6 UFM1 is a ubiquitin-like protein that is conjugated to target proteins by E1-like activating enzyme UBA5 (UBE1DC1; MIM 610552) and E2-like conjugating enzyme UFC1 (MIM 610554) in a manner analogous to ubiquitylation (see UBE2M; MIM 603173) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Dec 2008]. Ubiquitin-like modifier protein which binds to a number of target proteins, such as DDRGK1. Q96JB5:CDK5RAP3; NbExp=1; IntAct=EBI-1045061, EBI-718818; Nucleus. Cytoplasm. Note=Predominantly nuclear. Also expressed diffusely in the cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P61960-1; Sequence=Displayed; Name=2; IsoId=P61960-2; Sequence=VSP_041186; Belongs to the UFM1 family. protein binding nucleus cytoplasm endoplasmic reticulum brain development regulation of intracellular estrogen receptor signaling pathway response to endoplasmic reticulum stress negative regulation of apoptotic process protein ufmylation protein K69-linked ufmylation uc001uwu.1 uc001uwu.2 uc001uwu.3 uc001uwu.4 uc001uwu.5 uc001uwu.6 
ENST00000239882.7 ELF1 ENST00000239882.7 Homo sapiens E74 like ETS transcription factor 1 (ELF1), transcript variant 1, mRNA. (from RefSeq NM_172373) ELF1_HUMAN ENST00000239882.1 ENST00000239882.2 ENST00000239882.3 ENST00000239882.4 ENST00000239882.5 ENST00000239882.6 NM_172373 P32519 Q8N6F6 Q9UDE1 uc001uxs.1 uc001uxs.2 uc001uxs.3 uc001uxs.4 uc001uxs.5 This gene encodes an E26 transformation-specific related transcription factor. The encoded protein is primarily expressed in lymphoid cells and acts as both an enhancer and a repressor to regulate transcription of various genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]. Transcription factor that activates the LYN and BLK promoters. Appears to be required for the T-cell-receptor-mediated trans activation of HIV-2 gene expression. Binds specifically to two purine-rich motifs in the HIV-2 enhancer. Binds to the underphosphorylated form of RB. May interact with other transcription factors in order to regulate specific genes. Interacts with RUNX1. P31276:HOXC13; NbExp=3; IntAct=EBI-765526, EBI-2293590; P08047:SP1; NbExp=2; IntAct=EBI-765526, EBI-298336; Nucleus. In fetal tissues, it is highly expressed in heart, lung liver and kidney, and weakly expressed in brain. In adult, it is highly expressed in pancreas, spleen, thymus and peripheral blood leukocytes, expressed at moderate levels in heart, placenta, lung, liver, skeletal muscle, kidney, prostate, ovary, small intestine and colon, and weakly expressed in brain and testis. Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the ETS family. Contains 1 ETS DNA-binding domain. nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding regulation of cytokine production regulation of cytokine-mediated signaling pathway DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter cell differentiation sequence-specific DNA binding positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter regulation of B cell receptor signaling pathway negative regulation of T cell receptor signaling pathway uc001uxs.1 uc001uxs.2 uc001uxs.3 uc001uxs.4 uc001uxs.5 
ENST00000239891.4 ALG5 ENST00000239891.4 Homo sapiens ALG5 dolichyl-phosphate beta-glucosyltransferase (ALG5), transcript variant 1, mRNA. (from RefSeq NM_013338) ALG5_HUMAN B4DR37 ENST00000239891.1 ENST00000239891.2 ENST00000239891.3 HSPC149 NM_013338 Q5TBA6 Q9Y673 uc001uvy.1 uc001uvy.2 uc001uvy.3 uc001uvy.4 uc001uvy.5 This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]. UDP-glucose + dolichyl phosphate = UDP + dolichyl beta-D-glucosyl phosphate. Protein modification; protein glycosylation. Endoplasmic reticulum membrane; Single-pass type II membrane protein (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y673-1; Sequence=Displayed; Name=2; IsoId=Q9Y673-2; Sequence=VSP_041019; Note=No experimental confirmation available; Expressed in pancreas, placenta, liver, heart, brain, kidney, skeletal muscle, and lung. Belongs to the glycosyltransferase 2 family. Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; oligosaccharyl transferase activity dolichyl-phosphate beta-glucosyltransferase activity endoplasmic reticulum endoplasmic reticulum membrane protein glycosylation protein N-linked glycosylation determination of left/right symmetry membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups protein N-linked glycosylation via asparagine uc001uvy.1 uc001uvy.2 uc001uvy.3 uc001uvy.4 uc001uvy.5 
ENST00000239906.10 FAM53C ENST00000239906.10 Homo sapiens family with sequence similarity 53 member C (FAM53C), transcript variant 2, mRNA. (from RefSeq NM_016605) B2RDJ5 C5orf6 D3DQB9 ENST00000239906.1 ENST00000239906.2 ENST00000239906.3 ENST00000239906.4 ENST00000239906.5 ENST00000239906.6 ENST00000239906.7 ENST00000239906.8 ENST00000239906.9 FA53C_HUMAN NM_016605 Q9NYF3 uc003lcw.1 uc003lcw.2 uc003lcw.3 uc003lcw.4 uc003lcw.5 The protein encoded by this gene belongs to the FAM53 protein family. FAM53 protein family members bind to a transcriptional regulator that modulates cell proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]. Belongs to the FAM53 family. protein binding nucleus protein import into nucleus uc003lcw.1 uc003lcw.2 uc003lcw.3 uc003lcw.4 uc003lcw.5 
ENST00000239926.9 MYOT ENST00000239926.9 Homo sapiens myotilin (MYOT), transcript variant 1, mRNA. (from RefSeq NM_006790) A0A0C4DFM5 ENST00000239926.1 ENST00000239926.2 ENST00000239926.3 ENST00000239926.4 ENST00000239926.5 ENST00000239926.6 ENST00000239926.7 ENST00000239926.8 NM_006790 uc003lbv.1 uc003lbv.2 uc003lbv.3 uc003lbv.4 uc003lbv.5 This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008]. uc003lbv.1 uc003lbv.2 uc003lbv.3 uc003lbv.4 uc003lbv.5 
ENST00000239938.5 EGR1 ENST00000239938.5 Homo sapiens early growth response 1 (EGR1), mRNA. (from RefSeq NM_001964) ENST00000239938.1 ENST00000239938.2 ENST00000239938.3 ENST00000239938.4 NM_001964 Q546S1 Q546S1_HUMAN hCG_18777 uc003ldb.1 uc003ldb.2 uc003ldb.3 The protein encoded by this gene belongs to the EGR family of C2H2-type zinc-finger proteins. It is a nuclear protein and functions as a transcriptional regulator. The products of target genes it activates are required for differentitation and mitogenesis. Studies suggest this is a cancer suppressor gene. [provided by RefSeq, Dec 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M62829.1, X52541.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239938.5/ ENSP00000239938.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding response to hypoxia response to ischemia nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated response to glucose T cell differentiation BMP signaling pathway response to insulin circadian regulation of gene expression skeletal muscle cell differentiation regulation of apoptotic process transcription regulatory region DNA binding estrous cycle positive regulation of chemokine biosynthetic process locomotor rhythm positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding positive regulation of hormone biosynthetic process positive regulation of interleukin-1 beta biosynthetic process circadian temperature homeostasis regulation of transcription from RNA polymerase II promoter in response to hypoxia cellular response to organic substance cellular response to gamma radiation negative regulation of canonical Wnt signaling pathway positive regulation of neuron death positive regulation of tau-protein kinase activity regulation of progesterone biosynthetic process uc003ldb.1 uc003ldb.2 uc003ldb.3 
ENST00000239940.12 PFN2 ENST00000239940.12 Homo sapiens profilin 2 (PFN2), transcript variant 1, mRNA. (from RefSeq NM_053024) B2R4C8 D3DNI4 ENST00000239940.1 ENST00000239940.10 ENST00000239940.11 ENST00000239940.2 ENST00000239940.3 ENST00000239940.4 ENST00000239940.5 ENST00000239940.6 ENST00000239940.7 ENST00000239940.8 ENST00000239940.9 NM_053024 P35080 PROF2_HUMAN Q4VBQ4 Q8WVF9 Q9HBK2 uc003ext.1 uc003ext.2 uc003ext.3 uc003ext.4 The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals. There are two alternatively spliced transcript variants encoding different isoforms described for this gene. [provided by RefSeq, Jul 2008]. Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. Occurs in many kinds of cells as a complex with monomeric actin in a 1:1 ratio. Q14789:GOLGB1; NbExp=2; IntAct=EBI-473138, EBI-709973; P42858:HTT; NbExp=4; IntAct=EBI-473138, EBI-466029; O08816:Wasl (xeno); NbExp=3; IntAct=EBI-473138, EBI-6142604; Cytoplasm, cytoskeleton. Event=Alternative splicing; Named isoforms=2; Name=IIa; IsoId=P35080-1; Sequence=Displayed; Name=IIb; IsoId=P35080-2; Sequence=VSP_005217; Highly expressed in brain, skeletal muscle and kidney and less strongly in heart, placenta, lung and liver. Belongs to the profilin family. actin binding actin monomer binding protein binding phosphatidylinositol-4,5-bisphosphate binding cytoplasm cytoskeleton negative regulation of epithelial cell migration ATPase activity actin cytoskeleton organization regulation of actin filament polymerization negative regulation of actin filament polymerization positive regulation of actin filament polymerization positive regulation of actin filament bundle assembly positive regulation of ATPase activity positive regulation of peptidyl-serine phosphorylation protein stabilization positive regulation of stress fiber assembly extracellular exosome presynapse postsynapse modification of postsynaptic actin cytoskeleton glutamatergic synapse negative regulation of ruffle assembly regulation of synaptic vesicle exocytosis uc003ext.1 uc003ext.2 uc003ext.3 uc003ext.4 
ENST00000240050.9 MTERF2 ENST00000240050.9 Homo sapiens mitochondrial transcription termination factor 2 (MTERF2), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001033050) ENST00000240050.1 ENST00000240050.2 ENST00000240050.3 ENST00000240050.4 ENST00000240050.5 ENST00000240050.6 ENST00000240050.7 ENST00000240050.8 MTER3_HUMAN MTERFD3 NM_001033050 Q49AM1 Q53HM2 Q9H4L6 Q9H7Y9 uc001tmf.1 uc001tmf.2 uc001tmf.3 Binds promoter DNA and regulates mitochondrial transcription. Required for normal levels of transcription, both for mRNA and tRNA. Required for normal mitochondrial protein synthesis, assembly of respiratory complexes and normal mitochondrial function (By similarity). Monomer. Homodimer (By similarity). Mitochondrion. Mitochondrion matrix, mitochondrion nucleoid (By similarity). Expressed in skeletal muscle, heart, liver and pancreas. Belongs to the mTERF family. DNA binding double-stranded DNA binding mitochondrion regulation of transcription, DNA-templated termination of mitochondrial transcription mitochondrial nucleoid uc001tmf.1 uc001tmf.2 uc001tmf.3 
ENST00000240055.8 NFYB ENST00000240055.8 Homo sapiens nuclear transcription factor Y subunit beta (NFYB), mRNA. (from RefSeq NM_006166) A8K7B9 ENST00000240055.1 ENST00000240055.2 ENST00000240055.3 ENST00000240055.4 ENST00000240055.5 ENST00000240055.6 ENST00000240055.7 HAP3 NFYB_HUMAN NM_006166 P25208 Q96IY8 uc001tkl.1 uc001tkl.2 uc001tkl.3 The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoter regions in a variety of genes. This gene product, subunit B, forms a tight dimer with the C subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Observation of the histone nature of these subunits is supported by two types of evidence; protein sequence alignments and experiments with mutants. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660809.247352.1, SRR1803615.55114.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000240055.8/ ENSP00000240055.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Stimulates the transcription of various genes by recognizing and binding to a CCAAT motif in promoters, for example in type 1 collagen, albumin and beta-actin genes. Heterotrimeric transcription factor composed of three components, NF-YA, NF-YB and NF-YC. NF-YB and NF-YC must interact and dimerize for NF-YA association and DNA binding. P23511:NFYA; NbExp=4; IntAct=EBI-389728, EBI-389739; Q13952:NFYC; NbExp=3; IntAct=EBI-389728, EBI-389755; Nucleus. Can be divided into 3 domains: the weakly conserved A domain, the highly conserved B domain thought to be involved in subunit interaction and DNA binding, and the Glu-rich C domain. Belongs to the NFYB/HAP3 subunit family. Sequence=CAA42230.1; Type=Erroneous initiation; nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter CCAAT-binding factor complex protein-DNA complex sequence-specific DNA binding transcription regulatory region DNA binding macromolecular complex binding regulation of cholesterol biosynthetic process positive regulation of transcription, DNA-templated protein heterodimerization activity repressing transcription factor binding RNA polymerase II transcription factor complex cellular response to leukemia inhibitory factor RNA polymerase II distal enhancer sequence-specific DNA binding uc001tkl.1 uc001tkl.2 uc001tkl.3 
ENST00000240079.11 WASHC3 ENST00000240079.11 Homo sapiens WASH complex subunit 3 (WASHC3), transcript variant 1, mRNA. (from RefSeq NM_016053) AD-016 B2RC74 CCD53_HUMAN CCDC53 CGI-116 ENST00000240079.1 ENST00000240079.10 ENST00000240079.2 ENST00000240079.3 ENST00000240079.4 ENST00000240079.5 ENST00000240079.6 ENST00000240079.7 ENST00000240079.8 ENST00000240079.9 NM_016053 Q53FF0 Q6IAI4 Q96QK0 Q9Y3C0 uc010svw.1 uc010svw.2 uc010svw.3 uc010svw.4 x0009 Component of the WASH complex, a complex present at the surface of endosomes that recruits and activates the Arp2/3 complex to induce actin polymerization. The WASH complex plays a key role in the fission of tubules that serve as transport intermediates during endosome sorting. Component of the WASH complex, composed of F-actin- capping protein subunit alpha (CAPZA1, CAPZA2 or CAPZA3), F-actin- capping protein subunit beta (CAPZB), WASH (WASH1, WASH2P, WASH3P, WASH4P, WASH5P or WASH6P), FAM21 (FAM21A, FAM21B or FAM21C), KIAA1033, KIAA0196 and CCDC53. Q96EZ8:MCRS1; NbExp=3; IntAct=EBI-712969, EBI-348259; Q96AQ6:PBXIP1; NbExp=3; IntAct=EBI-712969, EBI-740845; Belongs to the CCDC53 family. protein binding endosome early endosome exocytosis biological_process protein transport actin filament polymerization WASH complex uc010svw.1 uc010svw.2 uc010svw.3 uc010svw.4 
ENST00000240100.7 DUSP4 ENST00000240100.7 Homo sapiens dual specificity phosphatase 4 (DUSP4), transcript variant 1, mRNA. (from RefSeq NM_001394) B2RBU5 D3DSU4 DUS4_HUMAN ENST00000240100.1 ENST00000240100.2 ENST00000240100.3 ENST00000240100.4 ENST00000240100.5 ENST00000240100.6 MKP2 NM_001394 Q13115 Q13524 VH2 uc003xhm.1 uc003xhm.2 uc003xhm.3 uc003xhm.4 uc003xhm.5 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1, ERK2 and JNK, is expressed in a variety of tissues, and is localized in the nucleus. Two alternatively spliced transcript variants, encoding distinct isoforms, have been observed for this gene. In addition, multiple polyadenylation sites have been reported. [provided by RefSeq, Jul 2008]. Regulates mitogenic signal transduction by dephosphorylating both Thr and Tyr residues on MAP kinases ERK1 and ERK2. Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate. A phosphoprotein + H(2)O = a protein + phosphate. Hollow spherical complex composed of 24 subunits with pseudooctahedral symmetry, has a tetramer as the basic unit. Nucleus. Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. Contains 1 rhodanese domain. Contains 1 tyrosine-protein phosphatase domain. inactivation of MAPK activity phosphoprotein phosphatase activity protein tyrosine phosphatase activity protein binding nucleus nucleoplasm cytoplasm protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity protein tyrosine/threonine phosphatase activity dephosphorylation hydrolase activity phosphatase activity MAP kinase tyrosine/serine/threonine phosphatase activity peptidyl-tyrosine dephosphorylation peptidyl-threonine dephosphorylation negative regulation of ERK1 and ERK2 cascade MAP kinase threonine phosphatase activity uc003xhm.1 uc003xhm.2 uc003xhm.3 uc003xhm.4 uc003xhm.5 
ENST00000240123.12 SORBS3 ENST00000240123.12 Homo sapiens sorbin and SH3 domain containing 3 (SORBS3), transcript variant 1, mRNA. (from RefSeq NM_005775) ENST00000240123.1 ENST00000240123.10 ENST00000240123.11 ENST00000240123.2 ENST00000240123.3 ENST00000240123.4 ENST00000240123.5 ENST00000240123.6 ENST00000240123.7 ENST00000240123.8 ENST00000240123.9 NM_005775 O60504 Q5BJE4 Q6NX54 Q96FY4 Q9UQE4 SCAM1 VINEX_HUMAN uc003xbv.1 uc003xbv.2 uc003xbv.3 uc003xbv.4 uc003xbv.5 This gene encodes an SH3 domain-containing adaptor protein. The presence of SH3 domains play a role in this protein's ability to bind other cytoplasmic molecules and contribute to cystoskeletal organization, cell adhesion and migration, signaling, and gene expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. Vinexin alpha isoform promotes up-regulation of actin stress fiber formation. Vinexin beta isoform plays a role in cell spreading and enhances the activation of JNK/SAPK in response to EGF stimulation by using its third SH3 domain. Interacts with DLG5 through its third SH3 domain (By similarity). Interacts with vinculin by the first two SH3 domains and the proline rich region of vinculin. Binds to SOS (guanine nucleotide exchange factor of RAS and RAC), through its third SH3 domain. The formation of this complex is down-regulated by phosphorylation of SOS. Interacts with INPPL1/SHIP2, SAFB2, SOCS7 and SRCIN1. Interacts with FASLG. Interacts with MAPK1/ERK2 (By similarity). Q14151:SAFB2; NbExp=3; IntAct=EBI-1222956, EBI-352869; Q9QWI6-2:Srcin1 (xeno); NbExp=4; IntAct=EBI-1222956, EBI-775607; O00401:WASL; NbExp=2; IntAct=EBI-1222956, EBI-957615; Isoform Alpha: Cell junction (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=Localized at cell-extracellular matrix junctions (By similarity). Both isoforms were localized at focal adhesion and cell-cell adhesion sites. Isoform Beta: Cell junction (By similarity). Nucleus. Cytoplasm, cytoskeleton (By similarity). Note=Localized at cell-extracellular matrix junctions (By similarity). Both isoforms were localized at focal adhesion and cell-cell adhesion sites, vinexin beta was also found in the nucleus. Event=Alternative splicing; Named isoforms=2; Name=Alpha; IsoId=O60504-1; Sequence=Displayed; Name=Beta; IsoId=O60504-2; Sequence=VSP_004489; Both isoforms are expressed in different tissues like heart, placenta, brain, skeletal muscle and pancreas. Isoform beta is especially found in liver. Phosphorylated at Ser-530 by MAPK1/ERK2 during cell spreading (By similarity). Contains 3 SH3 domains. Contains 1 SoHo domain. negative regulation of transcription from RNA polymerase II promoter structural constituent of cytoskeleton protein binding nucleus cytoplasm cytosol cytoskeleton focal adhesion muscle contraction actin filament organization cell adhesion transcription factor binding vinculin binding cell junction cell-substrate adhesion positive regulation of MAPK cascade positive regulation of cytoskeleton organization positive regulation of stress fiber assembly uc003xbv.1 uc003xbv.2 uc003xbv.3 uc003xbv.4 uc003xbv.5 
ENST00000240139.10 PPP3CC ENST00000240139.10 Homo sapiens protein phosphatase 3 catalytic subunit gamma (PPP3CC), transcript variant 2, mRNA. (from RefSeq NM_005605) CALNA3 CNA3 ENST00000240139.1 ENST00000240139.2 ENST00000240139.3 ENST00000240139.4 ENST00000240139.5 ENST00000240139.6 ENST00000240139.7 ENST00000240139.8 ENST00000240139.9 NM_005605 P48454 PP2BC_HUMAN Q9BSS6 Q9H4M5 uc003xbs.1 uc003xbs.2 uc003xbs.3 uc003xbs.4 uc003xbs.5 Calcineurin is a calcium-dependent, calmodulin-stimulated protein phosphatase involved in the downstream regulation of dopaminergic signal transduction. Calcineurin is composed of a regulatory subunit and a catalytic subunit. The protein encoded by this gene represents one of the regulatory subunits that has been found for calcineurin. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. Calcium-dependent, calmodulin-stimulated protein phosphatase. This subunit may have a role in the calmodulin activation of calcineurin. A phosphoprotein + H(2)O = a protein + phosphate. Binds 1 Fe(3+) ion per subunit (By similarity). Binds 1 zinc ion per subunit (By similarity). Composed of two components (A and B), the A component is the catalytic subunit and the B component confers calcium sensitivity. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P48454-1; Sequence=Displayed; Name=2; IsoId=P48454-2; Sequence=VSP_037946; Testis. Belongs to the PPP phosphatase family. PP-2B subfamily. phosphoprotein phosphatase activity protein binding calmodulin binding cytoplasm mitochondrion cytosol calcineurin complex protein dephosphorylation brain development hydrolase activity calcineurin-NFAT signaling cascade calmodulin-dependent protein phosphatase activity metal ion binding calcineurin-mediated signaling presynapse glutamatergic synapse presynaptic cytosol regulation of synaptic vesicle endocytosis positive regulation of synaptic vesicle endocytosis positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway uc003xbs.1 uc003xbs.2 uc003xbs.3 uc003xbs.4 uc003xbs.5 
ENST00000240185.8 TARDBP ENST00000240185.8 Homo sapiens TAR DNA binding protein (TARDBP), mRNA. (from RefSeq NM_007375) A4GUK4 A4GUK5 A4GUK6 B2R629 E2PU12 ENST00000240185.1 ENST00000240185.2 ENST00000240185.3 ENST00000240185.4 ENST00000240185.5 ENST00000240185.6 ENST00000240185.7 NM_007375 Q13148 Q53H27 Q6FI92 Q96DJ0 TADBP_HUMAN TDP43 uc001art.1 uc001art.2 uc001art.3 uc001art.4 uc001art.5 HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC095435.1, AL050265.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000240185.8/ ENSP00000240185.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## DNA and RNA-binding protein which regulates transcription and splicing. Involved in the regulation of CFTR splicing. It promotes CFTR exon 9 skipping by binding to the UG repeated motifs in the polymorphic region near the 3'-splice site of this exon. The resulting aberrant splicing is associated with pathological features typical of cystic fibrosis. May also be involved in microRNA biogenesis, apoptosis and cell division. Can repress HIV-1 transcription by binding to the HIV-1 long terminal repeat. Stabilizes the low molecular weight neurofilament (NFL) mRNA through a direct interaction with the 3' UTR. Homodimer. Interacts with BRDT (By similarity). Binds specifically to pyrimidine-rich motifs of TAR DNA and to single stranded TG repeated sequences. Binds to RNA, specifically to UG repeated sequences with a minimun of six contiguous repeats. Interacts with ATNX2; the interaction is RNA-dependent. O43187:IRAK2; NbExp=2; IntAct=EBI-372899, EBI-447733; Nucleus. Note=In patients with frontotemporal lobar degeneration and amyotrophic lateral sclerosis, it is absent from the nucleus of affected neurons but it is the primary component of cytoplasmic ubiquitin-positive inclusion bodies. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q13148-1; Sequence=Displayed; Name=2; IsoId=Q13148-2; Sequence=VSP_039991; Name=3; IsoId=Q13148-3; Sequence=VSP_039989, VSP_039990, VSP_039991; Ubiquitously expressed. In particular, expression is high in pancreas, placenta, lung, genital tract and spleen. The RRM domains can bind to both DNA and RNA (By similarity). Hyperphosphorylated in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU. Ubiquitinated in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU. Cleaved to generate C-terminal fragments in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU. Defects in TARDBP are the cause of amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]. ALS is a neurodegenerative disorder affecting upper and lower motor neurons and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology of ALS is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Contains 2 RRM (RNA recognition motif) domains. RNA polymerase II distal enhancer sequence-specific DNA binding negative regulation of protein phosphorylation nucleic acid binding DNA binding double-stranded DNA binding transcription factor activity, sequence-specific DNA binding RNA binding mRNA 3'-UTR binding protein binding nucleus nucleoplasm perichromatin fibrils cytoplasm regulation of transcription, DNA-templated transcription from RNA polymerase II promoter mRNA processing RNA splicing gene expression cytoplasmic stress granule negative regulation of gene expression nuclear speck regulation of protein stability positive regulation of insulin secretion response to endoplasmic reticulum stress interchromatin granule positive regulation of protein import into nucleus regulation of circadian rhythm identical protein binding regulation of apoptotic process sequence-specific DNA binding negative regulation by host of viral transcription rhythmic process regulation of cell cycle 3'-UTR-mediated mRNA stabilization nuclear inner membrane organization pre-mRNA intronic binding sequence-specific double-stranded DNA binding ribonucleoprotein complex uc001art.1 uc001art.2 uc001art.3 uc001art.4 uc001art.5 
ENST00000240189.2 PRAMEF2 ENST00000240189.2 Homo sapiens PRAME family member 2 (PRAMEF2), mRNA. (from RefSeq NM_023014) ENST00000240189.1 NM_023014 O60811 PRAM2_HUMAN uc001aum.1 Belongs to the PRAME family. Contains 2 LRR (leucine-rich) repeats. cytoplasm positive regulation of cell proliferation negative regulation of apoptotic process negative regulation of cell differentiation negative regulation of transcription, DNA-templated uc001aum.1 
ENST00000240285.10 RDH10 ENST00000240285.10 Homo sapiens retinol dehydrogenase 10 (RDH10), mRNA. (from RefSeq NM_172037) ENST00000240285.1 ENST00000240285.2 ENST00000240285.3 ENST00000240285.4 ENST00000240285.5 ENST00000240285.6 ENST00000240285.7 ENST00000240285.8 ENST00000240285.9 NM_172037 Q8IZV5 RDH10_HUMAN UNQ9375/PRO34191 uc003xzi.1 uc003xzi.2 uc003xzi.3 uc003xzi.4 uc003xzi.5 This gene encodes a retinol dehydrogenase, which converts all-trans-retinol to all-trans-retinal, with preference for NADP as a cofactor. Studies in mice suggest that this protein is essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development. [provided by RefSeq, Dec 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC067131.1, SRR1660805.173060.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000240285.10/ ENSP00000240285.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinol to all-trans-retinal. Has no detectable activity towards 11-cis-retinol, 9-cis-retinol and 13-cis-retinol. All-trans-retinol + NADP(+) = all-trans- retinal + NADPH. Cofactor metabolism; retinol metabolism. Microsome membrane; Single-pass membrane protein (Potential). Endoplasmic reticulum membrane; Single-pass membrane protein (Potential). Detected in retina, kidney, liver, small intestine, placenta, lung, heart and skeletal muscle. Belongs to the short-chain dehydrogenases/reductases (SDR) family. retinoid metabolic process metanephros development in utero embryonic development retinoic acid biosynthetic process retinol dehydrogenase activity cytoplasm endoplasmic reticulum endoplasmic reticulum membrane lipid particle visual perception gonad development animal organ morphogenesis neural crest cell development membrane integral component of membrane oxidoreductase activity embryonic camera-type eye development organelle membrane embryonic forelimb morphogenesis retinol metabolic process retinal metabolic process intracellular membrane-bounded organelle ear development nose development embryonic organ development embryonic viscerocranium morphogenesis NADP-retinol dehydrogenase activity oxidation-reduction process primary lung bud formation bud elongation involved in lung branching positive regulation of retinoic acid biosynthetic process nucleus uc003xzi.1 uc003xzi.2 uc003xzi.3 uc003xzi.4 uc003xzi.5 
ENST00000240306.5 DLX4 ENST00000240306.5 Homo sapiens distal-less homeobox 4 (DLX4), transcript variant 1, mRNA. (from RefSeq NM_138281) BP1 D3DTX2 D3DTX3 DLX4_HUMAN DLX7 DLX8 DLX9 ENST00000240306.1 ENST00000240306.2 ENST00000240306.3 ENST00000240306.4 NM_138281 O60480 Q13265 Q6PJK0 Q92988 Q9HBE0 uc002ipv.1 uc002ipv.2 uc002ipv.3 uc002ipv.4 uc002ipv.5 Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. Three transcript variants have been described for this gene, however, the full length nature of one variant has not been described. Studies of the two splice variants revealed that one encoded isoform functions as a repressor of the beta-globin gene while the other isoform lacks that function. [provided by RefSeq, Jul 2008]. May play a role in determining the production of hemoglobin S. May act as a repressor. P16333:NCK1; NbExp=3; IntAct=EBI-1752755, EBI-389883; Q13485:SMAD4; NbExp=5; IntAct=EBI-1752755, EBI-347263; P08047:SP1; NbExp=4; IntAct=EBI-1752755, EBI-298336; Nucleus (Potential). Event=Alternative splicing; Named isoforms=3; Comment=Additional isoforms seem to exist. PubMed:9073066 (AAC51171) sequence may be an additional isoform; Name=1; IsoId=Q92988-1; Sequence=Displayed; Name=2; IsoId=Q92988-2; Sequence=VSP_002236; Note=Ref.1 (AAC50942) sequence is in conflict in positions: 8:P->H, 15:Y->N; Name=3; IsoId=Q92988-3; Sequence=VSP_002236, VSP_017043; Expressed in leukemia cells and placenta. Also expressed in kidney and fetal liver. Belongs to the distal-less homeobox family. Contains 1 homeobox DNA-binding domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development cell differentiation sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter uc002ipv.1 uc002ipv.2 uc002ipv.3 uc002ipv.4 uc002ipv.5 
ENST00000240316.5 COIL ENST00000240316.5 Homo sapiens coilin (COIL), mRNA. (from RefSeq NM_004645) B2R931 CLN80 COIL_HUMAN ENST00000240316.1 ENST00000240316.2 ENST00000240316.3 ENST00000240316.4 NM_004645 P38432 uc002iuu.1 uc002iuu.2 uc002iuu.3 uc002iuu.4 uc002iuu.5 The protein encoded by this gene is an integral component of Cajal bodies (also called coiled bodies). Cajal bodies are nuclear suborganelles of varying number and composition that are involved in the post-transcriptional modification of small nuclear and small nucleolar RNAs. The N-terminus of the coilin protein directs its self-oligomerization while the C-terminus influences the number of nuclear bodies assembled per cell. Differential methylation and phosphorylation of coilin likely influences its localization among nuclear bodies and the composition and assembly of Cajal bodies. This gene has pseudogenes on chromosome 4 and chromosome 14. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.621235.1, BC010385.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000240316.5/ ENSP00000240316.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Is a component of the nuclear coiled bodies (CBS) which are involved in the function or assembly/disassembly of nucleoplasmic snRNPs. During mitosis, CBS disassemble, coinciding with a mitotic-specific phosphorylation of p80 coilin. Interacts with ANKS1B. Self; NbExp=3; IntAct=EBI-945751, EBI-945751; P54253:ATXN1; NbExp=3; IntAct=EBI-945751, EBI-930964; P54253-1:ATXN1; NbExp=6; IntAct=EBI-945751, EBI-930975; Q8NHQ1:CEP70; NbExp=3; IntAct=EBI-945751, EBI-739624; Q8TBB1:LNX1; NbExp=2; IntAct=EBI-945751, EBI-739832; Q9NRD5:PICK1; NbExp=3; IntAct=EBI-945751, EBI-79165; P61289:PSME3; NbExp=3; IntAct=EBI-945751, EBI-355546; Q9Y3D8:TAF9; NbExp=5; IntAct=EBI-945751, EBI-2896123; Q99986:VRK1; NbExp=9; IntAct=EBI-945751, EBI-1769146; Nucleus. Note=Nuclear coiled body located in the interchromatin space between the nucleolus and the nucleus. Found in all the cell types examined. The atypical Tudor domain at the C-terminus contains two large unstructured loops, and doesn't bind methylated residues. Symmetrical dimethylation of arginine residues within the RG repeat region modulates affinity for SMN, and thus, localization of SMN complexes to the nuclear coiled bodies. Belongs to the coilin family. Contains 1 Tudor domain. spliceosomal snRNP assembly fibrillar center protein binding nucleus nucleoplasm nucleolus protein C-terminus binding Cajal body membrane nuclear body U1 snRNA binding U2 snRNA binding identical protein binding uc002iuu.1 uc002iuu.2 uc002iuu.3 uc002iuu.4 uc002iuu.5 
ENST00000240328.4 TBX2 ENST00000240328.4 Homo sapiens T-box transcription factor 2 (TBX2), mRNA. (from RefSeq NM_005994) ENST00000240328.1 ENST00000240328.2 ENST00000240328.3 NM_005994 Q13207 Q16424 Q7Z647 TBX2_HUMAN uc010wox.1 uc010wox.2 uc010wox.3 uc010wox.4 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC052566.1, AL832900.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000240328.4/ ENSP00000240328.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation. Nucleus (Potential). Expressed primarily in adult in kidney, lung, and placenta. Weak expression in heart and ovary. Contains 1 T-box DNA-binding domain. Sequence=AAA73861.1; Type=Frameshift; Positions=4; Sequence=AAH52566.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TBX2ID42485ch17q23.html"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II activating transcription factor binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding cell fate specification heart looping heart morphogenesis outflow tract septum morphogenesis outflow tract morphogenesis endocardial cushion morphogenesis cardiac chamber development regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus transcription factor complex regulation of transcription, DNA-templated Notch signaling pathway multicellular organism development central nervous system development muscle cell fate determination cell aging regulation of heart contraction positive regulation of cell proliferation embryonic heart tube development aorta morphogenesis atrioventricular canal development embryonic digit morphogenesis sequence-specific DNA binding negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter embryonic camera-type eye morphogenesis cardiac muscle tissue development palate development positive regulation of cardiac muscle cell proliferation pharynx development developmental growth involved in morphogenesis mammary placode formation cellular senescence negative regulation of heart looping negative regulation of cardiac chamber formation uc010wox.1 uc010wox.2 uc010wox.3 uc010wox.4 
ENST00000240364.7 FAM117A ENST00000240364.7 Homo sapiens family with sequence similarity 117 member A (FAM117A), mRNA. (from RefSeq NM_030802) ENST00000240364.1 ENST00000240364.2 ENST00000240364.3 ENST00000240364.4 ENST00000240364.5 ENST00000240364.6 F117A_HUMAN NM_030802 Q9C073 uc002ipk.1 uc002ipk.2 uc002ipk.3 uc002ipk.4 uc002ipk.5 Belongs to the FAM117 family. uc002ipk.1 uc002ipk.2 uc002ipk.3 uc002ipk.4 uc002ipk.5 
ENST00000240423.9 NCAPH ENST00000240423.9 Homo sapiens non-SMC condensin I complex subunit H (NCAPH), transcript variant 1, mRNA. (from RefSeq NM_015341) BRRN BRRN1 CAPH CND2_HUMAN ENST00000240423.1 ENST00000240423.2 ENST00000240423.3 ENST00000240423.4 ENST00000240423.5 ENST00000240423.6 ENST00000240423.7 ENST00000240423.8 KIAA0074 NM_015341 Q15003 Q8TB87 uc002svz.1 uc002svz.2 uc002svz.3 uc002svz.4 This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. Alternatively spliced transcript variants encoding different proteins have been described. [provided by RefSeq, Jul 2013]. Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases. Component of the condensin complex, which contains the SMC2 and SMC4 heterodimer, and three non SMC subunits that probably regulate the complex: NCAPH/BRRN1, NCAPD2/CAPD2 and NCAPG. O00571:DDX3X; NbExp=2; IntAct=EBI-1046410, EBI-353779; Nucleus. Cytoplasm. Chromosome. Note=In interphase cells, the majority of the condensin complex is found in the cytoplasm, while a minority of the complex is associated with chromatin. A subpopulation of the complex however remains associated with chromosome foci in interphase cells. During mitosis, most of the condensin complex is associated with the chromatin. At the onset of prophase, the regulatory subunits of the complex are phosphorylated by CDK1, leading to condensin's association with chromosome arms and to chromosome condensation. Dissociation from chromosomes is observed in late telophase. Widely expressed at low level. Expressed in proliferating cells. Phosphorylated by CDK1. Its phosphorylation, as well as that of NCAPD2 and NCAPG subunits, activates the condensin complex and is required for chromosome condensation (By similarity). Belongs to the CND2 (condensin subunit 2) family. Sequence=BAA07556.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; condensin complex nuclear condensin complex chromatin binding protein binding nucleus chromosome cytoplasm cytosol cell cycle mitotic chromosome condensation female meiotic division meiotic chromosome condensation membrane chromosome condensation DNA topoisomerase binding meiotic chromosome segregation cell division female meiosis chromosome separation DNA topoisomerase (ATP-hydrolyzing) activator activity positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity uc002svz.1 uc002svz.2 uc002svz.3 uc002svz.4 
ENST00000240488.8 MND1 ENST00000240488.8 Homo sapiens meiotic nuclear divisions 1 (MND1), transcript variant 1, mRNA. (from RefSeq NM_032117) B2R5F9 ENST00000240488.1 ENST00000240488.2 ENST00000240488.3 ENST00000240488.4 ENST00000240488.5 ENST00000240488.6 ENST00000240488.7 GAJ MND1_HUMAN NM_032117 Q9BWT6 uc003ink.1 uc003ink.2 uc003ink.3 uc003ink.4 The product of the MND1 gene associates with HOP2 (MIM 608665) to form a stable heterodimeric complex that binds DNA and stimulates the recombinase activity of RAD51 (MIM 179617) and DMC1 (MIM 602721) (Chi et al., 2007 [PubMed 17639080]). Both the MND1 and HOP2 genes are indispensable for meiotic recombination.[supplied by OMIM, Mar 2008]. Required for proper homologous chromosome pairing and efficient cross-over and intragenic recombination during meiosis (By similarity). Stimulates both DMC1- and RAD51-mediated homologous strand assimilation, which is required for the resolution of meiotic double-strand breaks. Heterodimer with PSMC3IP/HOP2. MND1-PSMC3IP interacts with DMC1 and RAD51 and binds preferentially to dsDNA. Nucleus (Probable). Belongs to the MND1 family. DNA binding double-stranded DNA binding nucleus DNA recombination reciprocal meiotic recombination meiotic cell cycle uc003ink.1 uc003ink.2 uc003ink.3 uc003ink.4 
ENST00000240499.8 ZNF141 ENST00000240499.8 Homo sapiens zinc finger protein 141 (ZNF141), transcript variant 1, mRNA. (from RefSeq NM_003441) D4S90 ENST00000240499.1 ENST00000240499.2 ENST00000240499.3 ENST00000240499.4 ENST00000240499.5 ENST00000240499.6 ENST00000240499.7 NM_003441 Q15928 Q6DK07 ZN141_HUMAN uc003gaa.1 uc003gaa.2 uc003gaa.3 uc003gaa.4 The protein encoded by this gene is a zinc finger protein that may be a tumor suppressor. Defects in this gene have been associated with autosomal recessive postaxial polydactyly type A. [provided by RefSeq, Jan 2017]. May be involved in transcriptional regulation as a repressor. Candidate gene for Wolf-Hirschhorn (4p-) syndrome (WHS). Nucleus (Potential). Ubiquitously low expression. Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 11 C2H2-type zinc fingers. Contains 1 KRAB domain. nucleic acid binding DNA binding nucleus regulation of transcription, DNA-templated transcription from RNA polymerase II promoter multicellular organism development anatomical structure morphogenesis limb morphogenesis metal ion binding uc003gaa.1 uc003gaa.2 uc003gaa.3 uc003gaa.4 
ENST00000240587.5 TSHZ3 ENST00000240587.5 Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), transcript variant 1, mRNA. (from RefSeq NM_020856) ENST00000240587.1 ENST00000240587.2 ENST00000240587.3 ENST00000240587.4 KIAA1474 NM_020856 Q63HK5 Q9H0G6 Q9P254 TSH3 TSH3_HUMAN ZNF537 uc002nsy.1 uc002nsy.2 uc002nsy.3 uc002nsy.4 uc002nsy.5 uc002nsy.6 This gene encodes a zinc-finger transcription factor that regulates smooth muscle cell differentiation in the developing urinary tract. Consistent with this role, mice in which this gene has been inactivated exhibit abnormal gene expression in urinary tract smooth muscle cell precursors and kidney defects including hydronephrosis. The encoded transcription factor comprises a gene silencing complex that inhibits caspase expression. Reduced expression of this gene and consequent caspase upregulation may be correlated with progression of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2016]. Transcriptional regulator involved in developmental processes. Function in association with APBB1, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4. TSHZ3-mediated transcription repression involves the recruitment of histone deacetylases HDAC1 and HDAC2. Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s). Regulates the development of neurons involved in both respiratory rhythm and airflow control. Promotes maintenance of nucleus ambiguus (nA) motoneurons, which govern upper airway function, and establishes a respiratory rhythm generator (RRG) activity compatible with survival at birth. Involved in the differentiation of the proximal uretic smooth muscle cells during developmental processes. Involved in the up- regulation of myocardin, that directs the expression of smooth muscle cells in the proximal ureter. Interacts (via homeobox domain) with APBB1 (via PID domain 1). Interacts (via N-terminus) with HDAC1 and HDAC2; the interaction is direct. Found in a trimeric complex with APBB1 and HDAC1; the interaction between HDAC1 and APBB1 is mediated by TSHZ3. Nucleus. Cell projection, growth cone (By similarity). Note=Colocalizes with APBB1 in axonal growth cone (By similarity). Colocalizes with APBB1 in the nucleus. Expressed in brain; strongly reduced in post- mortem elderly subjects with Alzheimer disease. Expressed in peri-urothelial cells of the proximal ureter and renal pelvis at 9 weeks of gestation. Belongs to the teashirt C2H2-type zinc-finger protein family. Contains 5 C2H2-type zinc fingers. Contains 1 homeobox DNA-binding domain. Sequence=CAB66739.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Name=Protein Spotlight; Note=Life's first breath - Issue 122 of October 2010; URL="http://web.expasy.org/spotlight/back_issues/sptlt122.shtml"; nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding regulation of respiratory gaseous exchange by neurological system process nucleic acid binding DNA binding chromatin binding protein binding nucleus nucleoplasm regulation of transcription from RNA polymerase II promoter multicellular organism development regulation of gene expression growth cone cell projection negative regulation of transcription, DNA-templated metal ion binding positive regulation of synaptic transmission, glutamatergic long-term synaptic potentiation uc002nsy.1 uc002nsy.2 uc002nsy.3 uc002nsy.4 uc002nsy.5 uc002nsy.6 
ENST00000240615.3 TAS2R8 ENST00000240615.3 Homo sapiens taste 2 receptor member 8 (TAS2R8), mRNA. (from RefSeq NM_023918) ENST00000240615.1 ENST00000240615.2 NM_023918 Q4KN29 Q645Y2 Q9NYW2 TA2R8_HUMAN uc010shh.1 uc010shh.2 uc010shh.3 uc010shh.4 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC096735.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5. Membrane; Multi-pass membrane protein. Expressed in subsets of taste receptor cells of the tongue and palate epithelium and exclusively in gustducin- positive cells. Most taste cells may be activated by a limited number of bitter compounds; individual taste cells can discriminate among bitter stimuli. Belongs to the G-protein coupled receptor T2R family. detection of chemical stimulus involved in sensory perception of bitter taste G-protein coupled receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway taste receptor activity membrane integral component of membrane bitter taste receptor activity response to stimulus sensory perception of taste uc010shh.1 uc010shh.2 uc010shh.3 uc010shh.4 
ENST00000240617.10 PLBD1 ENST00000240617.10 Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA. (from RefSeq NM_024829) A8K4E9 ENST00000240617.1 ENST00000240617.2 ENST00000240617.3 ENST00000240617.4 ENST00000240617.5 ENST00000240617.6 ENST00000240617.7 ENST00000240617.8 ENST00000240617.9 NM_024829 PLBL1_HUMAN Q6P4A8 Q9BVV3 Q9H625 uc001rcc.1 uc001rcc.2 uc001rcc.3 Phospholipase acting on various phospholipids including phosphatidylcholine, phosphatidylinositol, phosphatidylethanolamine and lysophospholipids. May have a role in the defense against invading microorganisms and in the generation of lipid mediators of inflammation. pH dependence: Optimum pH is 7.4; May exist as a non-covalently associated tetramer of two 22 kDa and two 42 kDa chains. Cytoplasmic granule. Secreted. Expressed in neutrophils and monocytes. Proteolytic processing leading to a 22 kDa N-terminal and a 42 kDa C-terminal fragment appears necessary for activity, which seems to derive from the 42 kDa chain. Belongs to the phospholipase B-like family. Sequence=AAH00909.2; Type=Erroneous initiation; Sequence=BAB15442.1; Type=Erroneous initiation; phospholipase activity extracellular space lysosome cytosol lipid metabolic process phospholipid metabolic process lipid catabolic process hydrolase activity phosphatidylinositol acyl-chain remodeling phosphatidylcholine acyl-chain remodeling phosphatidylethanolamine acyl-chain remodeling uc001rcc.1 uc001rcc.2 uc001rcc.3 
ENST00000240618.11 KLRK1 ENST00000240618.11 Homo sapiens killer cell lectin like receptor K1 (KLRK1), mRNA. (from RefSeq NM_007360) A8K7K5 A8K7P4 D12S2489E ENST00000240618.1 ENST00000240618.10 ENST00000240618.2 ENST00000240618.3 ENST00000240618.4 ENST00000240618.5 ENST00000240618.6 ENST00000240618.7 ENST00000240618.8 ENST00000240618.9 NKG2D NKG2D_HUMAN NM_007360 P26718 Q9NR41 uc009zhj.1 uc009zhj.2 uc009zhj.3 uc009zhj.4 uc009zhj.5 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. This gene encodes a member of the NKG2 family. The encoded transmembrane protein is characterized by a type II membrane orientation (has an extracellular C terminus) and the presence of a C-type lectin domain. It binds to a diverse family of ligands that include MHC class I chain-related A and B proteins and UL-16 binding proteins, where ligand-receptor interactions can result in the activation of NK and T cells. The surface expression of these ligands is important for the recognition of stressed cells by the immune system, and thus this protein and its ligands are therapeutic targets for the treatment of immune diseases and cancers. Read-through transcription exists between this gene and the upstream KLRC4 (killer cell lectin-like receptor subfamily C, member 4) family member in the same cluster. [provided by RefSeq, Dec 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC039836.1, AK292059.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000240618.11/ ENSP00000240618.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for MICA, MICB, ULBP1, ULBP2, ULBP3 (ULBP2>ULBP1>ULBP3) and ULBP4. Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells. Involved in the immune surveillance exerted by T- and B-lymphocytes. Homodimer. Interacts with DAP10. The interaction with DAP10 is required for NKG2D cell surface expression. Membrane; Single-pass type II membrane protein. Event=Alternative splicing; Named isoforms=1; Comment=A number of isoforms are produced; Name=1; IsoId=P26718-1; Sequence=Displayed; Natural killer cells. Expressed on essentially all CD56+CD3- NK cells from freshly isolated PBMC. Also detected in gamma-delta cells and CD8+ alpha-beta T-cells. Expressed in interferon-producing killer dendritic cells (IKDCs). Structurally distinct families of ligands for mouse and human NKG2D receptors have been characterized. They might be orthologs. Contains 1 C-type lectin domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/KLRK1ID41094ch12p13.html"; Name=Functional Glycomics Gateway - Glycan Binding; Note=NKG-2D; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_246"; stimulatory C-type lectin receptor signaling pathway adaptive immune response immune system process protein binding plasma membrane integral component of plasma membrane signal transduction external side of plasma membrane cell surface membrane integral component of membrane natural killer cell activation cell differentiation carbohydrate binding T cell costimulation MHC class Ib receptor activity positive regulation of interferon-gamma production negative regulation of GTPase activity signaling receptor activity natural killer cell mediated cytotoxicity MHC class I protein binding protein homodimerization activity innate immune response positive regulation of nitric oxide biosynthetic process positive regulation of natural killer cell mediated cytotoxicity regulation of immune response defense response to Gram-positive bacterium cellular response to lipopolysaccharide negative regulation of natural killer cell chemotaxis uc009zhj.1 uc009zhj.2 uc009zhj.3 uc009zhj.4 uc009zhj.5 
ENST00000240619.3 TAS2R10 ENST00000240619.3 Homo sapiens taste 2 receptor member 10 (TAS2R10), mRNA. (from RefSeq NM_023921) ENST00000240619.1 ENST00000240619.2 NM_023921 Q3MIM9 Q6NTD9 Q9NYW0 T2R10_HUMAN uc001qyy.1 uc001qyy.2 uc001qyy.3 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC069089.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Gustducin-coupled strychnine receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium- regulated cation channel TRPM5. Membrane; Multi-pass membrane protein. Expressed in subsets of taste receptor cells of the tongue and palate epithelium and exclusively in gustducin- positive cells. Several bitter taste receptors are expressed in a single taste receptor cell. Belongs to the G-protein coupled receptor T2R family. detection of chemical stimulus involved in sensory perception of bitter taste G-protein coupled receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway taste receptor activity membrane integral component of membrane bitter taste receptor activity response to stimulus sensory perception of taste uc001qyy.1 uc001qyy.2 uc001qyy.3 
ENST00000240651.14 PYROXD1 ENST00000240651.14 Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 1 (PYROXD1), transcript variant 1, mRNA. (from RefSeq NM_024854) A6NKI6 ENST00000240651.1 ENST00000240651.10 ENST00000240651.11 ENST00000240651.12 ENST00000240651.13 ENST00000240651.2 ENST00000240651.3 ENST00000240651.4 ENST00000240651.5 ENST00000240651.6 ENST00000240651.7 ENST00000240651.8 ENST00000240651.9 NM_024854 PYRD1_HUMAN Q8WU10 Q9H6P1 uc001rew.1 uc001rew.2 uc001rew.3 uc001rew.4 uc001rew.5 This gene encodes a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). PNDRs are flavoproteins that catalyze the pyridine nucleotide-dependent reduction of thiol residues in other proteins. The encoded protein belongs to the class I pyridine nucleotide-disulphide oxidoreductase family but lacks the C-terminal dimerization domain found in other family members and instead has a C-terminal nitrile reductase domain. It localizes to the nucleus and to striated sarcomeric compartments. Naturally occurring mutations in this gene cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. A pseudogene of this gene has been defined on chromosome 11. [provided by RefSeq, Apr 2017]. Binds 1 FAD per subunit (By similarity). Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family. PYROXD1 subfamily. Sequence=BAB15214.1; Type=Frameshift; Positions=445; protein binding nucleus cytoplasm oxidoreductase activity sarcomere cellular response to oxidative stress oxidation-reduction process uc001rew.1 uc001rew.2 uc001rew.3 uc001rew.4 uc001rew.5 
ENST00000240687.2 TAS2R7 ENST00000240687.2 Homo sapiens taste 2 receptor member 7 (TAS2R7), mRNA. (from RefSeq NM_023919) ENST00000240687.1 NM_023919 Q645Y1 Q9NYW3 TA2R7_HUMAN uc001qyv.1 uc001qyv.2 uc001qyv.3 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC093992.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000240687.2/ ENSP00000240687.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. Membrane; Multi-pass membrane protein. Expressed in subsets of taste receptor cells of the tongue and palate epithelium and exclusively in gustducin- positive cells. Several bitter taste receptors are expressed in a single taste receptor cell. Belongs to the G-protein coupled receptor T2R family. detection of chemical stimulus involved in sensory perception of bitter taste G-protein coupled receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway taste receptor activity membrane integral component of membrane bitter taste receptor activity response to stimulus sensory perception of taste uc001qyv.1 uc001qyv.2 uc001qyv.3 
ENST00000240691.4 TAS2R9 ENST00000240691.4 Homo sapiens taste 2 receptor member 9 (TAS2R9), mRNA. (from RefSeq NM_023917) ENST00000240691.1 ENST00000240691.2 ENST00000240691.3 NM_023917 Q502V7 Q50KT0 Q50KT1 Q645W9 Q9NYW1 TA2R9_HUMAN uc001qyx.1 uc001qyx.2 uc001qyx.3 uc001qyx.4 uc001qyx.5 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC095519.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000240691.4/ ENSP00000240691.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5 (By similarity). Membrane; Multi-pass membrane protein. Expressed in subsets of taste receptor cells of the tongue and palate epithelium and exclusively in gustducin- positive cells. Several bitter taste receptors are expressed in a single taste receptor cell. Belongs to the G-protein coupled receptor T2R family. detection of chemical stimulus involved in sensory perception of bitter taste G-protein coupled receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway biological_process taste receptor activity membrane integral component of membrane bitter taste receptor activity response to stimulus sensory perception of taste uc001qyx.1 uc001qyx.2 uc001qyx.3 uc001qyx.4 uc001qyx.5 
ENST00000241014.6 MAPK8IP1 ENST00000241014.6 Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA. (from RefSeq NM_005456) D3DQP4 ENST00000241014.1 ENST00000241014.2 ENST00000241014.3 ENST00000241014.4 ENST00000241014.5 IB1 JIP1 JIP1_HUMAN NM_005456 O43407 PRKM8IP Q9UQF2 uc001nbr.1 uc001nbr.2 uc001nbr.3 uc001nbr.4 This gene encodes a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, a mouse protein known to be a regulator of c-Jun amino-terminal kinase (Mapk8). This protein has been shown to prevent MAPK8 mediated activation of transcription factors, and to decrease IL-1 beta and MAP kinase kinase 1 (MEKK1) induced apoptosis in pancreatic beta cells. This protein also functions as a DNA-binding transactivator of the glucose transporter GLUT2. RE1-silencing transcription factor (REST) is reported to repress the expression of this gene in insulin-secreting beta cells. This gene is found to be mutated in a type 2 diabetes family, and thus is thought to be a susceptibility gene for type 2 diabetes. [provided by RefSeq, May 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC068470.1, AF074091.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000241014.6/ ENSP00000241014.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. Required for JNK activation in response to excitotoxic stress. Cytoplasmic MAPK8IP1 causes inhibition of JNK- regulated activity by retaining JNK in the cytoplasm and inhibiting JNK phosphorylation of c-Jun. May also participate in ApoER2-specific reelin signaling. Directly, or indirectly, regulates GLUT2 gene expression and beta-cell function. Appears to have a role in cell signaling in mature and developing nerve terminals. May function as a regulator of vesicle transport, through interactions with the JNK-signaling components and motor proteins (By similarity). Functions as an anti-apoptotic protein and whose level seems to influence the beta-cell death or survival response. Forms homo- or heterooligomeric complexes. Binds specific components of the JNK signaling pathway namely, MAPK8, MAPK9, MAPK10, MAPKK7, MLK2, MLK3, MAP3K12 and MAP3K13. Also binds the proline-rich domain-containing splice variant of apolipoprotein E receptor 2 (ApoER2). Interacts, via the PID domain, with ARHGEF28. Binds the cytoplasmic tails of LRP1 and LRP2 (Megalin). Binds the TPR motif-containing C-terminal of KNS2, then the pre-assembled MAPK8IP1 scaffolding complexes are transported as a cargo of kinesin, to the required subcellular location. Interacts with the cytoplasmic domain of APP. Interacts with DCLK2 (By similarity). Interacts with MAP3K7. Interacts with isoform 1 and isoform 2 of VRK2. P05067:APP; NbExp=4; IntAct=EBI-78404, EBI-77613; P12023:App (xeno); NbExp=2; IntAct=EBI-78404, EBI-78814; O43318:MAP3K7; NbExp=10; IntAct=EBI-78404, EBI-358684; Cytoplasm (By similarity). Cytoplasm, perinuclear region (By similarity). Nucleus (By similarity). Endoplasmic reticulum membrane. Mitochondrion membrane. Note=Accumulates in cell surface projections. Under certain stress conditions, translocates to the perinuclear region of neurons. In insulin-secreting cells, detected in both the cytoplasm and nucleus (By similarity). Highly expressed in brain. Expressed in neurons, localizing to neurite tips in differentiating cells. Also expressed in the pancreas, testis and prostate. Low levels in heart, ovary and small intestine. Decreased levels in pancreatic beta cells sensitize cells to IL-1-beta-induced apoptosis. The destruction boxes (D-box) may act as recognition signals for degradation via the ubiquitin-proteasome pathway. A minimal inhibitory domain prevents pancreatic beta cell apoptosis in vitro, and prevents activation of c-jun by MAPK8, MAPK9 and MAPK10. The SH3 domain mediates homodimerization (By similarity). Phosphorylated by MAPK8, MAPK9 and MAPK10. Phosphorylation on Thr-103 is also necessary for the dissociation and activation of MAP3K12. Phosphorylated by isoform 1 and isoform 2 of VRK2. Ubiquitinated. Two preliminary events are required to prime for ubiquitination; phosphorylation and an increased in intracellular calcium concentration. Then, the calcium influx initiates ubiquitination and degradation by the ubiquitin- proteasome pathway. Defects in MAPK8IP1 are a cause of non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853]. NIDDM is characterized by an autosomal dominant mode of inheritance, onset during adulthood and insulin resistance. A chemically synthesized cell-permeable peptide of the minimal inhibitory domain decreases brain lesions in both transient and permanent ischemia. The level of protection is still high when administered 6 or 12 hours after ischemia. Belongs to the JIP scaffold family. Contains 1 PID domain. Contains 1 SH3 domain. protein kinase inhibitor activity MAP-kinase scaffold activity protein binding nucleus cytoplasm mitochondrion endoplasmic reticulum endoplasmic reticulum membrane cytosol plasma membrane regulation of transcription, DNA-templated receptor-mediated endocytosis signal transduction JUN phosphorylation JUN kinase binding membrane vesicle-mediated transport kinesin binding protein kinase binding axon dendrite mitogen-activated protein kinase kinase binding mitogen-activated protein kinase kinase kinase binding mitochondrial membrane neuron projection negative regulation of apoptotic process negative regulation of JUN kinase activity dendritic growth cone axonal growth cone cell body dentate gyrus mossy fiber synapse positive regulation of endocytosis regulation of JNK cascade negative regulation of JNK cascade positive regulation of JNK cascade perinuclear region of cytoplasm negative regulation of canonical Wnt signaling pathway regulation of CD8-positive, alpha-beta T cell proliferation negative regulation of intrinsic apoptotic signaling pathway uc001nbr.1 uc001nbr.2 uc001nbr.3 uc001nbr.4 
ENST00000241051.8 DEPDC7 ENST00000241051.8 Homo sapiens DEP domain containing 7 (DEPDC7), transcript variant 1, mRNA. (from RefSeq NM_001077242) DEPD7_HUMAN ENST00000241051.1 ENST00000241051.2 ENST00000241051.3 ENST00000241051.4 ENST00000241051.5 ENST00000241051.6 ENST00000241051.7 NM_001077242 Q8N602 Q8NCU9 Q96QD5 Q9UGK5 uc001mub.1 uc001mub.2 uc001mub.3 uc001mub.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96QD5-1; Sequence=Displayed; Name=2; IsoId=Q96QD5-2; Sequence=VSP_028811; Expressed in liver. Belongs to the DEPDC7 family. Contains 1 DEP domain. molecular_function cellular_component cytosol biological_process intracellular signal transduction regulation of small GTPase mediated signal transduction uc001mub.1 uc001mub.2 uc001mub.3 uc001mub.4 
ENST00000241052.5 CAT ENST00000241052.5 Homo sapiens catalase (CAT), mRNA. (from RefSeq NM_001752) A8K6C0 B2RCZ9 CATA_HUMAN D3DR07 ENST00000241052.1 ENST00000241052.2 ENST00000241052.3 ENST00000241052.4 NM_001752 P04040 Q2M1U4 Q4VXX5 Q9BWT9 Q9UC85 uc001mvm.1 uc001mvm.2 uc001mvm.3 uc001mvm.4 uc001mvm.5 This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1080032.1, SRR3476690.186343.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000241052.5/ ENSP00000241052.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Occurs in almost all aerobically respiring organisms and serves to protect cells from the toxic effects of hydrogen peroxide. Promotes growth of cells including T-cells, B-cells, myeloid leukemia cells, melanoma cells, mastocytoma cells and normal and transformed fibroblast cells. 2 H(2)O(2) = O(2) + 2 H(2)O. Heme group. NADP. Homotetramer. Peroxisome. The N-terminus is blocked. Defects in CAT are the cause of acatalasemia (ACATLAS) [MIM:614097]. A metabolic disorder characterized by absence of catalase activity in red cells and is often associated with ulcerating oral lesions. Belongs to the catalase family. Name=Wikipedia; Note=Catalase entry; URL="http://en.wikipedia.org/wiki/Catalase"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/cat/"; response to reactive oxygen species osteoblast differentiation ureteric bud development response to hypoxia kidney development aminoacylase activity catalase activity peroxidase activity receptor binding extracellular region extracellular space mitochondrial intermembrane space lysosome peroxisome peroxisomal membrane peroxisomal matrix endoplasmic reticulum Golgi apparatus cytosol plasma membrane focal adhesion protein targeting to peroxisome triglyceride metabolic process response to oxidative stress aging cholesterol metabolic process aerobic respiration response to radiation response to UV response to toxic substance response to light intensity UV protection response to ozone response to lead ion positive regulation of phosphatidylinositol 3-kinase signaling response to activity response to inactivity membrane antioxidant activity oxidoreductase activity oxidoreductase activity, acting on peroxide as acceptor enzyme binding hemoglobin metabolic process heme binding negative regulation of NF-kappaB transcription factor activity response to estradiol response to insulin response to vitamin A response to vitamin E response to L-ascorbic acid cellular response to oxidative stress secretory granule lumen response to drug response to hydrogen peroxide hydrogen peroxide catabolic process identical protein binding protein homodimerization activity negative regulation of apoptotic process intracellular membrane-bounded organelle neutrophil degranulation response to ethanol response to cadmium ion metal ion binding NADP binding positive regulation of NF-kappaB transcription factor activity protein tetramerization protein homotetramerization positive regulation of cell division response to hyperoxia oxidation-reduction process extracellular exosome response to fatty acid cellular response to growth factor stimulus response to phenylpropanoid cellular oxidant detoxification ficolin-1-rich granule lumen uc001mvm.1 uc001mvm.2 uc001mvm.3 uc001mvm.4 uc001mvm.5 
ENST00000241071.11 FBXO24 ENST00000241071.11 Homo sapiens F-box protein 24 (FBXO24), transcript variant 1, mRNA. (from RefSeq NM_033506) A4D2D4 B4DX91 B4DY42 ENST00000241071.1 ENST00000241071.10 ENST00000241071.2 ENST00000241071.3 ENST00000241071.4 ENST00000241071.5 ENST00000241071.6 ENST00000241071.7 ENST00000241071.8 ENST00000241071.9 FBX24 FBX24_HUMAN NM_033506 O75426 Q9H0G1 uc003uvm.1 uc003uvm.2 uc003uvm.3 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]. Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex (By similarity). Directly interacts with SKP1 and CUL1 (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=O75426-1; Sequence=Displayed; Name=2; IsoId=O75426-2; Sequence=VSP_011351, VSP_011352, VSP_011353; Name=3; IsoId=O75426-3; Sequence=VSP_043459; Note=No experimental confirmation available; Name=4; IsoId=O75426-4; Sequence=VSP_043458; Note=No experimental confirmation available; Contains 1 F-box domain. Contains 1 RCC1 repeat. ubiquitin ligase complex ubiquitin-protein transferase activity protein binding protein ubiquitination uc003uvm.1 uc003uvm.2 uc003uvm.3 
ENST00000241125.4 GJA3 ENST00000241125.4 Homo sapiens gap junction protein alpha 3 (GJA3), mRNA. (from RefSeq NM_021954) CXA3_HUMAN ENST00000241125.1 ENST00000241125.2 ENST00000241125.3 NM_021954 Q0VAB7 Q9H537 Q9Y6H8 uc001umx.1 uc001umx.2 uc001umx.3 The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DR003755.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142348, SAMEA2142853 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000241125.4/ ENSP00000241125.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. A connexon is composed of a hexamer of connexins. This particular connexin is a component of lens fiber gap junctions, can form both junctional and non-junctional ("hemi-") channels. Cell membrane; Multi-pass membrane protein. Cell junction, gap junction. Defects in GJA3 are the cause of cataract zonular pulverulent cataract type 3 (CZP3) [MIM:601885]. A form of zonular cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. Defects in GJA3 are a cause of cataract autosomal dominant (ADC) [MIM:604219]. Cataract is an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. Belongs to the connexin family. Alpha-type (group II) subfamily. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GJA3"; gap junction channel activity plasma membrane integral component of plasma membrane gap junction connexin complex cell communication visual perception membrane integral component of membrane cell junction gap junction hemi-channel activity transmembrane transport gap junction-mediated intercellular transport uc001umx.1 uc001umx.2 uc001umx.3 
ENST00000241256.3 GHSR ENST00000241256.3 Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA. (from RefSeq NM_198407) ENST00000241256.1 ENST00000241256.2 GHSR_HUMAN NM_198407 Q14D12 Q6ISR8 Q92847 Q92848 Q96RJ7 uc003fib.1 uc003fib.2 uc003fib.3 uc003fib.4 This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010]. Receptor for ghrelin, coupled to G-alpha-11 proteins. Stimulates growth hormone secretion. Binds also other growth hormone releasing peptides (GHRP) (e.g. Met-enkephalin and GHRP-6) as well as non-peptide, low molecular weight secretagogues (e.g. L-692,429, MK-0677, adenosine). Cell membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1A; IsoId=Q92847-1; Sequence=Displayed; Name=1B; IsoId=Q92847-2; Sequence=VSP_001916, VSP_001917; Pituitary and hypothalamus. Defects in GHSR may be a cause of idiopathic short stature autosomal (ISSA) [MIM:604271]. Short stature is defined by a subnormal rate of growth. Belongs to the G-protein coupled receptor 1 family. growth hormone secretagogue receptor activity G-protein coupled receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway spermatogenesis female pregnancy learning or memory actin polymerization or depolymerization adult feeding behavior response to hormone hormone-mediated signaling pathway cell surface negative regulation of norepinephrine secretion membrane integral component of membrane growth hormone-releasing hormone receptor activity peptide hormone binding growth hormone secretion response to food negative regulation of appetite positive regulation of appetite response to follicle-stimulating hormone response to estradiol negative regulation of interleukin-1 beta production cellular response to insulin stimulus ghrelin secretion positive regulation of multicellular organism growth negative regulation of tumor necrosis factor biosynthetic process hormone binding neuron projection regulation of hindgut contraction positive regulation of insulin-like growth factor receptor signaling pathway membrane raft negative regulation of interleukin-6 biosynthetic process positive regulation of fatty acid metabolic process positive regulation of growth negative regulation of insulin secretion decidualization negative regulation of inflammatory response regulation of synapse assembly regulation of transmission of nerve impulse regulation of growth hormone secretion regulation of feeding behavior response to growth hormone cellular response to lipopolysaccharide response to dexamethasone negative regulation of locomotion involved in locomotory behavior cellular response to thyroid hormone stimulus postsynapse glutamatergic synapse positive regulation of sprouting angiogenesis positive regulation of eating behavior response to monosodium glutamate positive regulation of small intestine smooth muscle contraction negative regulation of tumor necrosis factor secretion regulation of gastric motility positive regulation of vascular endothelial cell proliferation cellular response to insulin-like growth factor stimulus negative regulation of macrophage apoptotic process uc003fib.1 uc003fib.2 uc003fib.3 uc003fib.4 
ENST00000241261.7 TNFSF10 ENST00000241261.7 Homo sapiens TNF superfamily member 10 (TNFSF10), transcript variant 4, non-coding RNA. (from RefSeq NR_033994) ENST00000241261.1 ENST00000241261.2 ENST00000241261.3 ENST00000241261.4 ENST00000241261.5 ENST00000241261.6 NR_033994 Q6IBA9 Q6IBA9_HUMAN hCG_20249 uc003fid.1 uc003fid.2 uc003fid.3 uc003fid.4 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein preferentially induces apoptosis in transformed and tumor cells, but does not appear to kill normal cells although it is expressed at a significant level in most normal tissues. This protein binds to several members of TNF receptor superfamily including TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and possibly also to TNFRSF11B/OPG. The activity of this protein may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and TNFRSF11B/OPG that cannot induce apoptosis. The binding of this protein to its receptors has been shown to trigger the activation of MAPK8/JNK, caspase 8, and caspase 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]. cytokine activity tumor necrosis factor receptor binding extracellular space immune response signal transduction male gonad development membrane integral component of membrane tumor necrosis factor receptor superfamily binding response to insulin positive regulation of apoptotic process TRAIL binding metal ion binding positive regulation of extrinsic apoptotic signaling pathway uc003fid.1 uc003fid.2 uc003fid.3 uc003fid.4 
ENST00000241274.3 SLITRK3 ENST00000241274.3 Homo sapiens SLIT and NTRK like family member 3 (SLITRK3), transcript variant 2, mRNA. (from RefSeq NM_014926) ENST00000241274.1 ENST00000241274.2 KIAA0848 NM_014926 O94933 Q1RMY6 SLIK3_HUMAN uc003fek.1 uc003fek.2 uc003fek.3 uc003fek.4 This gene encodes a member of the Slitrk family of structurally related transmembrane proteins that are involved in controlling neurite outgrowth. The encoded protein contains two leucine-rich repeat (LRR) domains and a C-terminal domain that is partially similar to Trk neurotrophin receptor protein. Enhanced expression of this gene was found in tissue from several different types of tumors. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Jan 2016]. Suppresses neurite outgrowth (By similarity). Membrane; Single-pass type I membrane protein (Potential). Expressed in the occipital lobe of the cerebral cortex of the brain. Expressed at higher levels in some astrocytic brain tumors such as astrocytomas, oligodendrogliomas, glioblastomas, gangliogliomas and primitive neuroectodermal tumors. Belongs to the SLITRK family. Contains 12 LRR (leucine-rich) repeats. Contains 2 LRRCT domains. Contains 1 LRRNT domain. Sequence=BAA74871.2; Type=Erroneous initiation; plasma membrane axonogenesis membrane integral component of membrane positive regulation of synapse assembly GABA-ergic synapse integral component of postsynaptic membrane integral component of postsynaptic specialization membrane integral component of postsynaptic density membrane synaptic membrane adhesion regulation of presynapse assembly uc003fek.1 uc003fek.2 uc003fek.3 uc003fek.4 
ENST00000241305.4 CPXM2 ENST00000241305.4 Homo sapiens carboxypeptidase X, M14 family member 2 (CPXM2), mRNA. (from RefSeq NM_198148) CPXM2_HUMAN ENST00000241305.1 ENST00000241305.2 ENST00000241305.3 NM_198148 Q8N436 UNQ676/PRO1310 uc001lhk.1 uc001lhk.2 uc001lhk.3 May be involved in cell-cell interactions. Secreted (Probable). Belongs to the peptidase M14 family. Contains 1 F5/8 type C domain. As it has lost active sites residues and zinc-binding sites it is unlikely to be catalytically active. metallocarboxypeptidase activity extracellular region extracellular space proteolysis peptide metabolic process zinc ion binding protein processing uc001lhk.1 uc001lhk.2 uc001lhk.3 
ENST00000241337.9 GSTM2 ENST00000241337.9 Homo sapiens glutathione S-transferase mu 2 (GSTM2), transcript variant 1, mRNA. (from RefSeq NM_000848) ENST00000241337.1 ENST00000241337.2 ENST00000241337.3 ENST00000241337.4 ENST00000241337.5 ENST00000241337.6 ENST00000241337.7 ENST00000241337.8 GST4 GSTM2_HUMAN NM_000848 P28161 Q2M318 Q5TZY5 Q8WWE1 uc001dyj.1 uc001dyj.2 uc001dyj.3 uc001dyj.4 uc001dyj.5 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. [provided by RefSeq, Jul 2008]. Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. RX + glutathione = HX + R-S-glutathione. Homodimer. Cytoplasm. Muscle. Belongs to the GST superfamily. Mu family. Contains 1 GST C-terminal domain. Contains 1 GST N-terminal domain. glutathione transferase activity glutathione peroxidase activity receptor binding protein binding cytoplasm cytosol glutathione metabolic process regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion sarcoplasmic reticulum transferase activity nitrobenzene metabolic process enzyme binding xenobiotic catabolic process protein homodimerization activity glutathione binding linoleic acid metabolic process intercellular bridge relaxation of cardiac muscle negative regulation of ryanodine-sensitive calcium-release channel activity positive regulation of ryanodine-sensitive calcium-release channel activity extracellular exosome cellular detoxification of nitrogen compound cellular response to caffeine cellular oxidant detoxification glutathione derivative biosynthetic process uc001dyj.1 uc001dyj.2 uc001dyj.3 uc001dyj.4 uc001dyj.5 
ENST00000241356.5 ADORA3 ENST00000241356.5 Homo sapiens adenosine A3 receptor (ADORA3), transcript variant C, mRNA. (from RefSeq NM_001302679) ENST00000241356.1 ENST00000241356.2 ENST00000241356.3 ENST00000241356.4 NM_001302679 P0DMS8 uc001ebh.1 uc001ebh.2 uc001ebh.3 uc001ebh.4 uc001ebh.5 uc001ebh.6 This gene encodes a protein that belongs to the family of adenosine receptors, which are G-protein-coupled receptors that are involved in a variety of intracellular signaling pathways and physiological functions. The receptor encoded by this gene mediates a sustained cardioprotective function during cardiac ischemia, it is involved in the inhibition of neutrophil degranulation in neutrophil-mediated tissue injury, it has been implicated in both neuroprotective and neurodegenerative effects, and it may also mediate both cell proliferation and cell death. Alternative splicing results in multiple transcript variants. This gene shares its 5' terminal exon with some transcripts from overlapping GeneID:57413, which encodes an immunoglobulin domain-containing protein. [provided by RefSeq, Nov 2014]. uc001ebh.1 uc001ebh.2 uc001ebh.3 uc001ebh.4 uc001ebh.5 uc001ebh.6 
ENST00000241416.12 ACVR2A ENST00000241416.12 Homo sapiens activin A receptor type 2A (ACVR2A), transcript variant 2, mRNA. (from RefSeq NM_001616) ACVR2 AVR2A_HUMAN B2RAB8 D3DP85 ENST00000241416.1 ENST00000241416.10 ENST00000241416.11 ENST00000241416.2 ENST00000241416.3 ENST00000241416.4 ENST00000241416.5 ENST00000241416.6 ENST00000241416.7 ENST00000241416.8 ENST00000241416.9 NM_001616 P27037 Q53TH4 Q6NWV2 Q92474 uc002twh.1 uc002twh.2 uc002twh.3 uc002twh.4 uc002twh.5 uc002twh.6 This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a transmembrane serine-threonine kinase receptor which mediates signaling by forming heterodimeric complexes with various combinations of type I and type II receptors and ligands in a cell-specific manner. The encoded type II receptor is primarily involved in ligand-binding and includes an extracellular ligand-binding domain, a transmembrane domain and a cytoplasmic serine-threonine kinase domain. This gene may be associated with susceptibility to preeclampsia, a pregnancy-related disease which can result in maternal and fetal morbidity and mortality. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jun 2013]. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin A, activin B and inhibin A. ATP + [receptor-protein] = ADP + [receptor- protein] phosphate. Magnesium or manganese (By similarity). Interacts with AIP1. Part of a complex consisting of AIP1, ACVR2A, ACVR1B and SMAD3 (By similarity). Membrane; Single-pass type I membrane protein. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. Contains 1 protein kinase domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ACVR2ID567ch2q22.html"; Name=CGP resequencing studies; URL="http://www.sanger.ac.uk/perl/genetics/CGP/cgp_viewer?action=gene&ln=ACVR2"; nucleotide binding gastrulation with mouth forming second positive regulation of protein phosphorylation protein kinase activity protein serine/threonine kinase activity transmembrane receptor protein serine/threonine kinase activity transforming growth factor beta-activated receptor activity transforming growth factor beta receptor activity, type II protein binding ATP binding cytoplasm plasma membrane integral component of plasma membrane protein phosphorylation transmembrane receptor protein serine/threonine kinase signaling pathway transforming growth factor beta receptor signaling pathway spermatogenesis determination of left/right symmetry pattern specification process mesoderm development male gonad development anterior/posterior pattern specification regulation of signal transduction cell surface positive regulation of pathway-restricted SMAD protein phosphorylation coreceptor activity membrane integral component of membrane kinase activity phosphorylation transferase activity growth factor binding PDZ domain binding positive regulation of bone mineralization BMP signaling pathway activin receptor signaling pathway positive regulation of activin receptor signaling pathway inhibin-betaglycan-ActRII complex inhibin binding type I transforming growth factor beta receptor binding sperm ejaculation penile erection receptor complex protein self-association positive regulation of erythrocyte differentiation positive regulation of osteoblast differentiation positive regulation of transcription from RNA polymerase II promoter SMAD binding metal ion binding activin receptor complex activin binding embryonic skeletal system development regulation of nitric-oxide synthase activity Sertoli cell proliferation cellular response to BMP stimulus BMP receptor activity activin-activated receptor activity uc002twh.1 uc002twh.2 uc002twh.3 uc002twh.4 uc002twh.5 uc002twh.6 
ENST00000241436.8 POLK ENST00000241436.8 DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Depending on the context, it inserts the correct base, but causes frequent base transitions, transversions and frameshifts. Lacks 3'-5' proofreading exonuclease activity. Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have lyase activity. (from UniProt Q9UBT6) B2RBD2 DINB1 ENST00000241436.1 ENST00000241436.2 ENST00000241436.3 ENST00000241436.4 ENST00000241436.5 ENST00000241436.6 ENST00000241436.7 NR_170560 POLK_HUMAN Q86VJ8 Q8IZY0 Q8IZY1 Q8NB30 Q96L01 Q96Q86 Q96Q87 Q9UBT6 Q9UHC5 uc003kdw.1 uc003kdw.2 uc003kdw.3 uc003kdw.4 DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Depending on the context, it inserts the correct base, but causes frequent base transitions, transversions and frameshifts. Lacks 3'-5' proofreading exonuclease activity. Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have lyase activity. Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1). Divalent metal cations. Prefers magnesium, but can also use manganese. pH dependence: Optimum pH is 6.5-7.5; Temperature dependence: Optimum temperature is 37 degrees Celsius; Interacts with REV1 (By similarity). Interacts with PCNA. Nucleus. Note=Detected throughout the nucleus and at replication foci. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9UBT6-1; Sequence=Displayed; Name=2; IsoId=Q9UBT6-2; Sequence=VSP_012801, VSP_012802; Note=No experimental confirmation available; Name=3; IsoId=Q9UBT6-3; Sequence=VSP_012803; Name=4; IsoId=Q9UBT6-4; Sequence=VSP_012804, VSP_012805, VSP_012806; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available; Detected at low levels in testis, spleen, prostate and ovary. Detected at very low levels in kidney, colon, brain, heart, liver, lung, placenta, pancreas and peripheral blood leukocytes. The catalytic core consists of fingers, palm and thumb subdomains, but the fingers and thumb subdomains are much smaller than in high-fidelity polymerases; residues from five sequence motifs of the Y-family cluster around an active site cleft that can accommodate DNA and nucleotide substrates with relaxed geometric constraints, with consequently higher rates of misincorporation and low processivity. Belongs to the DNA polymerase type-Y family. Contains 2 UBZ-type zinc fingers. Contains 1 umuC domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/polk/"; DNA binding damaged DNA binding DNA-directed DNA polymerase activity nucleus nucleoplasm DNA replication DNA repair transcription-coupled nucleotide-excision repair nucleotide-excision repair, DNA incision, 5'-to lesion nucleotide-excision repair, DNA gap filling cellular response to DNA damage stimulus nuclear body transferase activity nucleotidyltransferase activity translesion synthesis nucleotide-excision repair, DNA incision cellular response to UV error-prone translesion synthesis metal ion binding DNA biosynthetic process uc003kdw.1 uc003kdw.2 uc003kdw.3 uc003kdw.4 
ENST00000241453.12 FLT3 ENST00000241453.12 Homo sapiens fms related receptor tyrosine kinase 3 (FLT3), transcript variant 1, mRNA. (from RefSeq NM_004119) A0AVG9 B7ZLT7 B7ZLT8 CD135 ENST00000241453.1 ENST00000241453.10 ENST00000241453.11 ENST00000241453.2 ENST00000241453.3 ENST00000241453.4 ENST00000241453.5 ENST00000241453.6 ENST00000241453.7 ENST00000241453.8 ENST00000241453.9 F5H0A0 FLK2 FLT3_HUMAN NM_004119 P36888 Q13414 STK1 uc001urw.1 uc001urw.2 uc001urw.3 uc001urw.4 This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jan 2015]. Tyrosine-protein kinase that acts as cell-surface receptor for the cytokine FLT3LG and regulates differentiation, proliferation and survival of hematopoietic progenitor cells and of dendritic cells. Promotes phosphorylation of SHC1 and AKT1, and activation of the downstream effector MTOR. Promotes activation of RAS signaling and phosphorylation of downstream kinases, including MAPK1/ERK2 and/or MAPK3/ERK1. Promotes phosphorylation of FES, FER, PTPN6/SHP, PTPN11/SHP-2, PLCG1, and STAT5A and/or STAT5B. Activation of wild-type FLT3 causes only marginal activation of STAT5A or STAT5B. Mutations that cause constitutive kinase activity promote cell proliferation and resistance to apoptosis via the activation of multiple signaling pathways. ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. Present in an inactive conformation in the absence of bound ligand. FLT3LG binding leads to dimerization and activation by autophosphorylation. Monomer in the absence of bound FLT3LG. Homodimer in the presence of bound FLT3LG. Interacts with FIZ1 following ligand activation (By similarity). Interacts with FES, FER, LYN, FGR, HCK, SRC and GRB2. Interacts with PTPRJ/DEP-1 and PTPN11/SHP2. Q9Y6K9:IKBKG; NbExp=2; IntAct=EBI-3946257, EBI-81279; Membrane; Single-pass type I membrane protein. Endoplasmic reticulum lumen. Note=Constitutively activated mutant forms with internal tandem duplications are less efficiently transported to the cell surface and a significant proportion is retained in an immature form in the endoplasmic reticulum lumen. The activated kinase is rapidly targeted for degradation. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P36888-1; Sequence=Displayed; Name=2; IsoId=P36888-2; Sequence=VSP_041796; Detected in bone marrow, in hematopoietic stem cells, in myeloid progenitor cells and in granulocyte/macrophage progenitor cells (at protein level). Detected in bone marrow, liver, thymus, spleen and lymph node, and at low levels in kidney and pancreas. Highly expressed in T-cell leukemia. The juxtamembrane autoregulatory region is important for normal regulation of the kinase activity and for maintaining the kinase in an inactive state in the absence of bound ligand. Upon tyrosine phosphorylation, it mediates interaction with the SH2 domains of numerous signaling partners. In-frame internal tandem duplications (ITDs) result in constitutive activation of the kinase. The activity of the mutant kinase can be stimulated further by FLT3LG binding. N-glycosylated, contains complex N-glycans with sialic acid. Autophosphorylated on several tyrosine residues in response to FLT3LG binding. FLT3LG binding also increases phosphorylation of mutant kinases that are constitutively activated. Dephosphorylated by PTPRJ/DEP-1, PTPN1, PTPN6/SHP-1, and to a lesser degree by PTPN12. Dephosphorylation is important for export from the endoplasmic reticulum and location at the cell membrane. Rapidly ubiquitinated by UBE2L6 and the E3 ubiquitin-protein ligase SIAH1 after autophosphorylation, leading to its proteasomal degradation. Defects in FLT3 are a cause of acute myelogenous leukemia (AML) [MIM:601626]. AML is a malignant disease in which hematopoietic precursors are arrested in an early stage of development. Note=Somatic mutations that lead to constitutive activation of FLT3 are frequent in AML patients. These mutations fall into two classes, the most common being in-frame internal tandem duplications of variable length in the juxtamembrane region that disrupt the normal regulation of the kinase activity. Likewise, point mutations in the activation loop of the kinase domain can result in a constitutively activated kinase. Can be used as diagnostic tool to establish the exact cause of acute myeloid leukemia, and to determine the optimal therapy. Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily. Contains 1 Ig-like C2-type (immunoglobulin-like) domain. Contains 1 protein kinase domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/FLT3ID144.html"; MAPK cascade nucleotide binding leukocyte homeostasis hematopoietic progenitor cell differentiation myeloid progenitor cell differentiation pro-B cell differentiation leukocyte differentiation protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity cytokine receptor activity vascular endothelial growth factor-activated receptor activity protein binding ATP binding nucleus cytoplasm endoplasmic reticulum endoplasmic reticulum lumen cytosol plasma membrane integral component of plasma membrane protein phosphorylation transmembrane receptor protein tyrosine kinase signaling pathway positive regulation of cell proliferation response to organonitrogen compound positive regulation of phosphatidylinositol 3-kinase signaling membrane integral component of membrane viral process kinase activity phosphorylation transferase activity peptidyl-tyrosine phosphorylation cytokine-mediated signaling pathway hemopoiesis lymphocyte differentiation cell differentiation B cell differentiation animal organ regeneration macromolecular complex glucocorticoid receptor binding common myeloid progenitor cell proliferation vascular endothelial growth factor signaling pathway positive regulation of tyrosine phosphorylation of STAT protein protein homodimerization activity regulation of apoptotic process receptor complex positive regulation of MAP kinase activity positive regulation of MAPK cascade positive regulation of phosphatidylinositol 3-kinase activity protein self-association macromolecular complex binding lymphocyte proliferation protein autophosphorylation cellular response to cytokine stimulus cellular response to glucocorticoid stimulus dendritic cell differentiation uc001urw.1 uc001urw.2 uc001urw.3 uc001urw.4 
ENST00000241463.5 RASL11A ENST00000241463.5 Homo sapiens RAS like family 11 member A (RASL11A), transcript variant 1, mRNA. (from RefSeq NM_206827) B2RN97 ENST00000241463.1 ENST00000241463.2 ENST00000241463.3 ENST00000241463.4 NM_206827 Q6T310 RSLBA_HUMAN uc001urd.1 uc001urd.2 RASL11A is a member of the small GTPase protein family with a high degree of similarity to RAS (see HRAS, MIM 190020) proteins.[supplied by OMIM, Nov 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: DRR138515.829203.1, AY439004.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000241463.5/ ENSP00000241463.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Regulator of rDNA transcription. Acts in cooperation UBF/UBTF and positively regulates RNA polymerase I transcription (By similarity). Interacts with UBF/UBTF (By similarity). Nucleus, nucleolus (By similarity). Note=Associates with rDNA transcription unit throughout the cell cycle (By similarity). Widely expressed. Down-regulated in prostate tumors compared to normal prostate tissue. High levels found in colon tumor and normal colon tissue followed by small intestine, liver, jejunum, ileum, bladder and aorta. Lowest levels observed in endothelial cells. Down-regulated during development of THP-1 monocytes into macrophages. Down-regulated by TGFB1. Belongs to the small GTPase superfamily. Ras family. Although highly related to the Ras family, lacks the conserved prenylation motif at the C-terminus, which serves to target Ras proteins to membrane compartments. nucleotide binding GTPase activity GTP binding nucleus nucleolus signal transduction membrane positive regulation of transcription from RNA polymerase I promoter uc001urd.1 uc001urd.2 
ENST00000241502.9 FYTTD1 ENST00000241502.9 Homo sapiens forty-two-three domain containing 1 (FYTTD1), transcript variant 1, mRNA. (from RefSeq NM_032288) A8MY74 B2RCB2 B7Z3R4 B7Z7V1 B7Z8I0 B7ZAJ3 C9J7P6 C9JNG6 C9JTH3 C9JY50 ENST00000241502.1 ENST00000241502.2 ENST00000241502.3 ENST00000241502.4 ENST00000241502.5 ENST00000241502.6 ENST00000241502.7 ENST00000241502.8 NM_032288 Q96QD9 Q96SL9 Q9BQI8 UIF UIF_HUMAN uc003fyi.1 uc003fyi.2 uc003fyi.3 uc003fyi.4 Required for mRNA export from the nucleus to the cytoplasm. Acts as an adapter that uses the DDX39B/UAP56-NFX1 pathway to ensure efficient mRNA export and delivering to the nuclear pore. Associates with spliced and unspliced mRNAs simultaneously with ALYREF/THOC4. Interacts with DDX39B/UAP56 and NXF1; interaction with DDX39B/UAP56 and NXF1 are mutually exclusive. Interacts with SSRP1; required for its recruitment to mRNAs. Nucleus, nucleoplasm. Nucleus speckle. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q96QD9-1; Sequence=Displayed; Name=2; IsoId=Q96QD9-2; Sequence=VSP_038659; Note=No experimental confirmation available; Name=3; IsoId=Q96QD9-3; Sequence=VSP_038658; Note=No experimental confirmation available; Name=4; IsoId=Q96QD9-4; Sequence=VSP_038660, VSP_038661; Note=No experimental confirmation available; Belongs to the UIF family. RNA binding mRNA binding protein binding nucleus nucleoplasm mRNA export from nucleus nuclear speck mRNA transport uc003fyi.1 uc003fyi.2 uc003fyi.3 uc003fyi.4 
ENST00000241651.5 MYOG ENST00000241651.5 Homo sapiens myogenin (MYOG), mRNA. (from RefSeq NM_002479) BHLHC3 ENST00000241651.1 ENST00000241651.2 ENST00000241651.3 ENST00000241651.4 MYF4 MYOG_HUMAN NM_002479 P15173 Q53XW6 uc001gzd.1 uc001gzd.2 uc001gzd.3 uc001gzd.4 uc001gzd.5 uc001gzd.6 Myogenin is a muscle-specific transcription factor that can induce myogenesis in a variety of cell types in tissue culture. It is a member of a large family of proteins related by sequence homology, the helix-loop-helix (HLH) proteins. It is essential for the development of functional skeletal muscle. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC053899.1, ERR279849.7471.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2158800, SAMEA2162946 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000241651.5/ ENSP00000241651.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein. Efficient DNA binding requires dimerization with another bHLH protein. Nucleus. Contains 1 bHLH (basic helix-loop-helix) domain. nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding core promoter proximal region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding ossification DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm transcription factor complex regulation of transcription, DNA-templated cell cycle multicellular organism development muscle organ development skeletal muscle tissue development negative regulation of cell proliferation response to gravity positive regulation of myotube differentiation skeletal muscle atrophy positive regulation of muscle atrophy regulation of skeletal muscle satellite cell proliferation response to muscle activity response to muscle activity involved in regulation of muscle adaptation response to electrical stimulus involved in regulation of muscle adaptation striated muscle atrophy response to denervation involved in regulation of muscle adaptation myotube differentiation cell differentiation chromatin DNA binding protein-DNA complex skeletal muscle cell differentiation muscle cell fate commitment mRNA transcription from RNA polymerase II promoter skeletal muscle tissue regeneration sequence-specific DNA binding myoblast differentiation positive regulation of myoblast differentiation negative regulation of glycolytic process positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity protein dimerization activity skeletal muscle fiber development positive regulation of skeletal muscle fiber development positive regulation of muscle cell differentiation E-box binding positive regulation of cell cycle arrest cellular response to magnetism cellular response to lithium ion cellular response to retinoic acid cellular response to tumor necrosis factor cellular response to growth factor stimulus cellular response to estradiol stimulus regulation of myoblast fusion positive regulation of myoblast fusion positive regulation of oxidative phosphorylation uc001gzd.1 uc001gzd.2 uc001gzd.3 uc001gzd.4 uc001gzd.5 uc001gzd.6 
ENST00000241704.8 COPA ENST00000241704.8 Homo sapiens COPI coat complex subunit alpha (COPA), transcript variant 2, mRNA. (from RefSeq NM_004371) COPA_HUMAN ENST00000241704.1 ENST00000241704.2 ENST00000241704.3 ENST00000241704.4 ENST00000241704.5 ENST00000241704.6 ENST00000241704.7 NM_004371 P53621 Q5T201 Q8IXZ9 uc009wti.1 uc009wti.2 uc009wti.3 uc009wti.4 uc009wti.5 In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). Seven coat proteins have been identified, and they represent subunits of a complex known as coatomer. The subunits are designated alpha-COP, beta-COP, beta-prime-COP, gamma-COP, delta-COP, epsilon-COP, and zeta-COP. The alpha-COP, encoded by COPA, shares high sequence similarity with RET1P, the alpha subunit of the coatomer complex in yeast. Also, the N-terminal 25 amino acids of alpha-COP encode the bioactive peptide, xenin, which stimulates exocrine pancreatic secretion and may act as a gastrointestinal hormone. Alternative splicing results in multiple splice forms encoding distinct isoforms. [provided by RefSeq, Jul 2008]. The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non- clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity). Xenin stimulates exocrine pancreatic secretion. It inhibits pentagastrin-stimulated secretion of acid, to induce exocrine pancreatic secretion and to affect small and large intestinal motility. In the gut, xenin interacts with the neurotensin receptor. Oligomeric complex that consists of at least the alpha, beta, beta', gamma, delta, epsilon and zeta subunits. Probably interacts with PEX11A. Interacts with SCYL1 (By similarity). Cytoplasm (By similarity). Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Cytoplasmic vesicle, COPI-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Note=The coatomer is cytoplasmic or polymerized on the cytoplasmic side of the Golgi, as well as on the vesicles/buds originating from it (By similarity). Xenin: Secreted (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P53621-1; Sequence=Displayed; Name=2; IsoId=P53621-2; Sequence=VSP_035043; Uniformly expressed in a wide range of adult and fetal tissues. Xenin is found in gastric, duodenal and jejunal mucosa. Circulates in the blood. Seems to be confined to specific endocrine cells. Xenin is released into the circulation after a meal. Modified_positions=164; Note=Edited at about 31%. Contains 6 WD repeats. Name=Wikipedia; Note=Xenin entry; URL="http://en.wikipedia.org/wiki/Xenin"; Golgi membrane hormone activity structural molecule activity extracellular region extracellular space cytoplasm endoplasmic reticulum membrane Golgi apparatus cytosol intracellular protein transport ER to Golgi vesicle-mediated transport retrograde vesicle-mediated transport, Golgi to ER intra-Golgi vesicle-mediated transport signal transduction protein transport membrane vesicle-mediated transport membrane coat COPI vesicle coat transport vesicle pancreatic juice secretion COPI-coated vesicle membrane cytoplasmic vesicle extracellular exosome uc009wti.1 uc009wti.2 uc009wti.3 uc009wti.4 uc009wti.5 
ENST00000241802.9 HLA-DQA2 ENST00000241802.9 Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA. (from RefSeq NM_020056) A2BF37 B0V0E7 DQA2_HUMAN ENST00000241802.1 ENST00000241802.2 ENST00000241802.3 ENST00000241802.4 ENST00000241802.5 ENST00000241802.6 ENST00000241802.7 ENST00000241802.8 HLA-DXA NM_020056 O19789 P01906 Q5SQ94 Q5SR04 uc302who.1 This gene belongs to the HLA class II alpha chain family. The encoded protein forms a heterodimer with a class II beta chain. It is located in intracellular vesicles and plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (B lymphocytes, dendritic cells, macrophages) and are used to present antigenic peptides on the cell surface to be recognized by CD4 T-cells. [provided by RefSeq, Jun 2010]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA2144335, SAMEA2145893 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000374940.4/ ENSP00000364076.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal miroenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading. Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74 undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and facilitate the binding of antigenic peptides. Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Endosome membrane; Single- pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation. Expressed at low levels at the surface of B lymphoblastoid cells. Belongs to the MHC class II family. Contains 1 Ig-like C1-type (immunoglobulin-like) domain. There is some controversy on whether this gene is really expressed or not. Golgi membrane adaptive immune response immune system process antigen processing and presentation of peptide or polysaccharide antigen via MHC class II lysosome lysosomal membrane endosome endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus plasma membrane integral component of plasma membrane immune response endosome membrane ER to Golgi transport vesicle membrane membrane integral component of membrane antigen processing and presentation antigen processing and presentation of exogenous peptide antigen via MHC class II transport vesicle membrane endocytic vesicle membrane clathrin-coated endocytic vesicle membrane MHC class II receptor activity trans-Golgi network membrane MHC class II protein complex T cell receptor signaling pathway interferon-gamma-mediated signaling pathway integral component of lumenal side of endoplasmic reticulum membrane uc302who.1 
ENST00000241808.9 PRM2 ENST00000241808.9 Homo sapiens protamine 2 (PRM2), transcript variant 6, non-coding RNA. (from RefSeq NR_104428) ENST00000241808.1 ENST00000241808.2 ENST00000241808.3 ENST00000241808.4 ENST00000241808.5 ENST00000241808.6 ENST00000241808.7 ENST00000241808.8 NR_104428 Q1LZN1 Q1LZN1_HUMAN hCG_15066 uc002dau.1 uc002dau.2 uc002dau.3 Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis, and are the major DNA-binding proteins in the nucleus of sperm in many vertebrates. They package the sperm DNA into a highly condensed complex in a volume less than 5% of a somatic cell nucleus. Many mammalian species have only one protamine (protamine 1); however, a few species, including human and mouse, have two. This gene encodes protamine 2, which is cleaved to give rise to a family of protamine 2 peptides. Alternatively spliced transcript variants have also been found for this gene. [provided by RefSeq, Sep 2015]. DNA binding protein binding DNA packaging spermatid development uc002dau.1 uc002dau.2 uc002dau.3 
ENST00000241891.10 OPN4 ENST00000241891.10 Homo sapiens opsin 4 (OPN4), transcript variant 1, mRNA. (from RefSeq NM_033282) B7ZLB3 ENST00000241891.1 ENST00000241891.2 ENST00000241891.3 ENST00000241891.4 ENST00000241891.5 ENST00000241891.6 ENST00000241891.7 ENST00000241891.8 ENST00000241891.9 MOP NM_033282 OPN4_HUMAN Q14D01 Q2PP22 Q8NGQ9 Q9UHM6 uc001kdq.1 uc001kdq.2 uc001kdq.3 uc001kdq.4 uc001kdq.5 Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene encodes a photoreceptive opsin protein that is expressed within the ganglion and amacrine cell layers of the retina. In mouse, retinal ganglion cell axons expressing this gene projected to the suprachiasmatic nucleus and other brain nuclei involved in circadian photoentrainment. In mouse, this protein is coupled to a transient receptor potential (TRP) ion channel through a G protein signaling pathway and produces a physiologic light response via membrane depolarization and increased intracellular calcium. The protein functions as a sensory photopigment and may also have photoisomerase activity. Experiments with knockout mice indicate that this gene attenuates, but does not abolish, photoentrainment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. Photoreceptor required for regulation of circadian rhythm. Contributes to pupillar reflex and other non-image forming responses to light. May be able to isomerize covalently bound all- trans retinal back to 11-cis retinal (By similarity). Membrane; Multi-pass membrane protein. Note=Found in soma, dendrites and proximal part of axons of certain retinal ganglion cells (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UHM6-1; Sequence=Displayed; Name=2; IsoId=Q9UHM6-2; Sequence=VSP_041123; Eye. Expression is restricted within the ganglion and amacrine cell layers of the retina. Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. Sequence=BAC05951.1; Type=Erroneous gene model prediction; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/opn4/"; G-protein coupled receptor activity 11-cis retinal binding plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway visual perception phototransduction G-protein coupled photoreceptor activity detection of visible light photoreceptor activity membrane integral component of membrane protein-chromophore linkage regulation of circadian rhythm rhythmic process response to stimulus cellular response to light stimulus photoreceptor disc membrane uc001kdq.1 uc001kdq.2 uc001kdq.3 uc001kdq.4 uc001kdq.5 
ENST00000242057.9 AHR ENST00000242057.9 Homo sapiens aryl hydrocarbon receptor (AHR), mRNA. (from RefSeq NM_001621) A4D130 AHR_HUMAN BHLHE76 ENST00000242057.1 ENST00000242057.2 ENST00000242057.3 ENST00000242057.4 ENST00000242057.5 ENST00000242057.6 ENST00000242057.7 ENST00000242057.8 NM_001621 P35869 Q13728 Q13803 Q13804 uc011jxz.1 uc011jxz.2 uc011jxz.3 The protein encoded by this gene is a ligand-activated helix-loop-helix transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. This receptor has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. Before ligand binding, the encoded protein is sequestered in the cytoplasm; upon ligand binding, this protein moves to the nucleus and stimulates transcription of target genes. [provided by RefSeq, Sep 2015]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.231889.1, SRR1660809.233497.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000242057.9/ ENSP00000242057.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Ligand-activated transcriptional activator. Binds to the XRE promoter region of genes it activates. Activates the expression of multiple phase I and II xenobiotic chemical metabolizing enzyme genes (such as the CYP1A1 gene). Mediates biochemical and toxic effects of halogenated aromatic hydrocarbons. Involved in cell-cycle regulation. Likely to play an important role in the development and maturation of many tissues. Binds MYBBP1A (By similarity). Efficient DNA binding requires dimerization with another bHLH protein. In the nucleus, heterodimer of AHR and ARNT. Interacts with coactivators including SRC-1, RIP140 and NOCA7, and with the corepressor SMRT. Interacts with NEDD8 and IVNS1ABP. P27540:ARNT; NbExp=5; IntAct=EBI-80780, EBI-80809; P12977:EBNA3 (xeno); NbExp=5; IntAct=EBI-80780, EBI-993115; Q8NI08:NCOA7; NbExp=2; IntAct=EBI-80780, EBI-80799; Q9Y618:NCOR2; NbExp=2; IntAct=EBI-80780, EBI-80830; Cytoplasm. Nucleus. Note=Initially cytoplasmic; upon binding with ligand and interaction with a HSP90, it translocates to the nucleus. Expressed in all tissues tested including blood, brain, heart, kidney, liver, lung, pancreas and skeletal muscle. Induced or repressed by TGFB1 and dioxin in a cell-type specific fashion. Repressed by cAMP, retinoic acid, and 12-O- tetradecanoyl phorbol-13 acetate (TPA). Contains 1 bHLH (basic helix-loop-helix) domain. Contains 1 PAC (PAS-associated C-terminal) domain. Contains 2 PAS (PER-ARNT-SIM) domains. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding TFIID-class transcription factor binding transcription coactivator binding blood vessel development DNA binding transcription factor activity, sequence-specific DNA binding RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding protein binding nucleus nucleoplasm transcription factor complex cytoplasm cytosol regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter xenobiotic metabolic process apoptotic process cell cycle transcription factor binding response to xenobiotic stimulus response to toxic substance regulation of gene expression TBP-class protein binding cAMP-mediated signaling intracellular receptor signaling pathway regulation of B cell proliferation circadian regulation of gene expression macromolecular complex aryl hydrocarbon receptor complex cytosolic aryl hydrocarbon receptor complex enhancer binding protein homodimerization activity transcription regulatory region DNA binding negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity protein dimerization activity rhythmic process Hsp90 protein binding E-box binding cellular response to cAMP cellular response to forskolin cellular response to 2,3,7,8-tetrachlorodibenzodioxine sequence-specific double-stranded DNA binding uc011jxz.1 uc011jxz.2 uc011jxz.3 
ENST00000242067.11 BBS9 ENST00000242067.11 Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA. (from RefSeq NM_198428) ENST00000242067.1 ENST00000242067.10 ENST00000242067.2 ENST00000242067.3 ENST00000242067.4 ENST00000242067.5 ENST00000242067.6 ENST00000242067.7 ENST00000242067.8 ENST00000242067.9 NM_198428 P78514 PTHB1 PTHB1_HUMAN Q3SYG4 Q7KYS6 Q7KYS7 Q8N570 Q99844 Q99854 Q9Y699 Q9Y6A0 uc003tdn.1 uc003tdn.2 uc003tdn.3 This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2017]. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex binds to PCM1 and tubulin. Q8NFJ9:BBS1; NbExp=6; IntAct=EBI-2826852, EBI-1805484; Q8TAM1:BBS10; NbExp=2; IntAct=EBI-2826852, EBI-6128013; Q6ZW61:BBS12; NbExp=2; IntAct=EBI-2826852, EBI-6128352; Q9BXC9:BBS2; NbExp=9; IntAct=EBI-2826852, EBI-748297; Q8N3I7:BBS5; NbExp=3; IntAct=EBI-2826852, EBI-2892592; Q9NQ48:LZTFL1; NbExp=6; IntAct=EBI-2826852, EBI-2824799; Q8TAM2:TTC8; NbExp=2; IntAct=EBI-2826852, EBI-2892638; Cytoplasm, cytoskeleton, centrosome. Cell projection, cilium membrane. Cytoplasm. Note=Localizes to nonmembranous centriolar satellites in the cytoplasm. Event=Alternative splicing; Named isoforms=6; Name=1; IsoId=Q3SYG4-1; Sequence=Displayed; Name=2; IsoId=Q3SYG4-2; Sequence=VSP_018426; Name=3; IsoId=Q3SYG4-3; Sequence=VSP_018428; Name=4; IsoId=Q3SYG4-4; Sequence=VSP_018427; Name=5; IsoId=Q3SYG4-5; Sequence=VSP_018421, VSP_018422, VSP_018423; Note=No experimental confirmation available; Name=6; IsoId=Q3SYG4-6; Sequence=VSP_018424, VSP_018425; Widely expressed. Expressed in adult heart, skeletal muscle, lung, liver, kidney, placenta and brain, and in fetal kidney, lung, liver and brain. Down-regulated by parathyroid hormone. A chromosomal aberration involving PTHB1 is found in Wilms tumor 5 (WT5) [MIM:601583]. Translocation t(1;7)(q42;p15) with OBSCN. Defects in BBS9 are a cause of Bardet-Biedl syndrome type 9 (BBS9) [MIM:209900]. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Sequence=AAD25980.1; Type=Miscellaneous discrepancy; Note=Chimera; Sequence=AAD25981.1; Type=Erroneous initiation; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BBS9"; pericentriolar material molecular_function protein binding cytoplasm microtubule organizing center cytosol cytoskeleton plasma membrane cilium visual perception protein transport membrane cell projection organization centriolar satellite BBSome ciliary transition zone cell projection fat cell differentiation response to stimulus ciliary membrane cilium assembly protein localization to cilium uc003tdn.1 uc003tdn.2 uc003tdn.3 
ENST00000242108.9 EEPD1 ENST00000242108.9 Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA. (from RefSeq NM_030636) EEPD1_HUMAN ENST00000242108.1 ENST00000242108.2 ENST00000242108.3 ENST00000242108.4 ENST00000242108.5 ENST00000242108.6 ENST00000242108.7 ENST00000242108.8 KIAA1706 NM_030636 Q7L9B9 Q96K64 Q9C0F7 uc003tfa.1 uc003tfa.2 uc003tfa.3 uc003tfa.4 uc003tfa.5 Contains 1 HhH domain. Sequence=BAB21797.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; DNA binding DNA repair uc003tfa.1 uc003tfa.2 uc003tfa.3 uc003tfa.4 uc003tfa.5 
ENST00000242109.5 KIAA0087 ENST00000242109.5 Homo sapiens KIAA0087 lncRNA (KIAA0087), long non-coding RNA. (from RefSeq NR_022006) ENST00000242109.1 ENST00000242109.2 ENST00000242109.3 ENST00000242109.4 NR_022006 uc003sya.1 uc003sya.2 uc003sya.3 uc003sya.1 uc003sya.2 uc003sya.3 
ENST00000242140.10 WIPF3 ENST00000242140.10 Homo sapiens WAS/WASL interacting protein family member 3 (WIPF3), mRNA. (from RefSeq NM_001080529) A6NGB9 CR16 ENST00000242140.1 ENST00000242140.2 ENST00000242140.3 ENST00000242140.4 ENST00000242140.5 ENST00000242140.6 ENST00000242140.7 ENST00000242140.8 ENST00000242140.9 NM_001080529 WIPF3_HUMAN uc022aaz.1 uc022aaz.2 May be a regulator of cytoskeletal organization. May have a role in spermatogenesis (By similarity). Interacts with WASL, and monomeric and filamentous actin (By similarity). Cytoplasm. Note=In hippocampal neurons colocalizes with WASL in the cell body, axons and the growth cone (By similarity). The WH2 domain is found in a number of putative actin- binding proteins (By similarity). The profilin-binding motif has been implicated in the interaction with profilin and SH3 domains (By similarity). The KLKR motif is essential for G-actin binding and for actin polymerization (By similarity). Belongs to the verprolin family. Contains 1 WH2 domain. actin cortical patch assembly actin binding cytoplasm cytosol actin filament endocytosis multicellular organism development spermatogenesis SH3 domain binding actin filament-based movement cell differentiation actin cortical patch Fc-gamma receptor signaling pathway involved in phagocytosis actin filament binding actin cortical patch localization uc022aaz.1 uc022aaz.2 
ENST00000242152.7 NPY ENST00000242152.7 Homo sapiens neuropeptide Y (NPY), mRNA. (from RefSeq NM_000905) ENST00000242152.1 ENST00000242152.2 ENST00000242152.3 ENST00000242152.4 ENST00000242152.5 ENST00000242152.6 NM_000905 NPY_HUMAN P01303 uc003sww.1 uc003sww.2 uc003sww.3 uc003sww.4 This gene encodes a neuropeptide that is widely expressed in the central nervous system and influences many physiological processes, including cortical excitability, stress response, food intake, circadian rhythms, and cardiovascular function. The neuropeptide functions through G protein-coupled receptors to inhibit adenylyl cyclase, activate mitogen-activated protein kinase (MAPK), regulate intracellular calcium levels, and activate potassium channels. A polymorphism in this gene resulting in a change of leucine 7 to proline in the signal peptide is associated with elevated cholesterol levels, higher alcohol consumption, and may be a risk factor for various metabolic and cardiovascular diseases. The protein also exhibits antimicrobial activity against bacteria and fungi. [provided by RefSeq, Oct 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DA330523.1, BC029497.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000242152.7/ ENSP00000242152.2 Protein has antimicrobial activity :: PMID: 9756788 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## NPY is implicated in the control of feeding and in secretion of gonadotrophin-release hormone. Secreted. One of the most abundant peptides in the nervous system. Also found in some chromaffin cells of the adrenal medulla. Belongs to the NPY family. Name=Wikipedia; Note=Neuropeptide Y entry; URL="http://en.wikipedia.org/wiki/Neuropeptide_Y"; G-protein coupled receptor binding response to yeast G-protein coupled receptor activity receptor binding hormone activity neuropeptide hormone activity calcium channel regulator activity extracellular region extracellular space cell cytoplasm Golgi apparatus G-protein coupled receptor signaling pathway G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger neuropeptide signaling pathway chemical synaptic transmission feeding behavior regulation of blood pressure adult feeding behavior antibacterial humoral response antifungal humoral response central nervous system neuron development cerebral cortex development neuron projection development neuropeptide Y receptor binding positive regulation of appetite innate immune response defense response to Gram-negative bacterium defense response to Gram-positive bacterium intestinal epithelial cell differentiation uc003sww.1 uc003sww.2 uc003sww.3 uc003sww.4 
ENST00000242159.5 HOXA7 ENST00000242159.5 Homo sapiens homeobox A7 (HOXA7), mRNA. (from RefSeq NM_006896) A4D191 ENST00000242159.1 ENST00000242159.2 ENST00000242159.3 ENST00000242159.4 HOX1A HXA7_HUMAN NM_006896 O43368 O43486 O95655 P31268 Q9NSC8 Q9UDM1 uc003sys.1 uc003sys.2 uc003sys.3 uc003sys.4 uc003sys.5 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. For example, the encoded protein represses the transcription of differentiation-specific genes during keratinocyte proliferation, but this repression is then overcome by differentiation signals. This gene is highly similar to the antennapedia (Antp) gene of Drosophila. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1100454.1, SRR1803614.291174.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000242159.5/ ENSP00000242159.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Belongs to the Antp homeobox family. Contains 1 homeobox DNA-binding domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding angiogenesis negative regulation of cell-matrix adhesion negative regulation of leukocyte migration DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated multicellular organism development transcription factor binding anterior/posterior pattern specification nuclear membrane sequence-specific DNA binding negative regulation of keratinocyte differentiation negative regulation of monocyte differentiation negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter embryonic skeletal system morphogenesis stem cell differentiation uc003sys.1 uc003sys.2 uc003sys.3 uc003sys.4 uc003sys.5 
ENST00000242208.5 INHBA ENST00000242208.5 Homo sapiens inhibin subunit beta A (INHBA), mRNA. (from RefSeq NM_002192) ENST00000242208.1 ENST00000242208.2 ENST00000242208.3 ENST00000242208.4 INHBA_HUMAN NM_002192 P08476 Q14599 uc003thr.1 uc003thr.2 uc003thr.3 uc003thr.4 uc003thr.5 This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate a subunit of the dimeric activin and inhibin protein complexes. These complexes activate and inhibit, respectively, follicle stimulating hormone secretion from the pituitary gland. The encoded protein also plays a role in eye, tooth and testis development. Elevated expression of this gene may be associated with cancer cachexia in human patients. [provided by RefSeq, Aug 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.577620.1, BC007858.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA2149398 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000242208.5/ ENSP00000242208.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins. Dimeric, linked by one or more disulfide bonds. Inhibin A is a dimer of alpha and beta-A. Inhibin B is a dimer of alpha and beta-B. Activin A is a homodimer of beta-A. Activin B is a homodimer of beta-B. Activin AB is a dimer of beta-A and beta-B. Interacts with FST and FSTL3. Secreted. Belongs to the TGF-beta family. Name=Wikipedia; Note=Activin entry; URL="http://en.wikipedia.org/wiki/Activin"; G1/S transition of mitotic cell cycle ovarian follicle development mesoderm formation hair follicle development hematopoietic progenitor cell differentiation receptor binding cytokine activity transforming growth factor beta receptor binding hormone activity protein binding extracellular region extracellular space regulation of transcription from RNA polymerase II promoter defense response cell cycle arrest cell surface receptor signaling pathway cell-cell signaling nervous system development growth factor activity negative regulation of cell proliferation male gonad development positive regulation of gene expression positive regulation of pathway-restricted SMAD protein phosphorylation peptide hormone binding striatal medium spiny neuron differentiation cell differentiation erythrocyte differentiation negative regulation of cell growth positive regulation of cellular protein metabolic process activin receptor signaling pathway inhibin binding endodermal cell differentiation negative regulation of phosphorylation odontogenesis response to drug hemoglobin biosynthetic process progesterone secretion identical protein binding regulation of apoptotic process regulation of MAPK cascade activin A complex inhibin A complex negative regulation of interferon-gamma biosynthetic process negative regulation of B cell differentiation positive regulation of erythrocyte differentiation negative regulation of macrophage differentiation negative regulation of cell cycle positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter regulation of follicle-stimulating hormone secretion positive regulation of follicle-stimulating hormone secretion negative regulation of follicle-stimulating hormone secretion protein heterodimerization activity mesodermal cell differentiation cell development perinuclear region of cytoplasm palate development positive regulation of ovulation SMAD protein signal transduction eyelid development in camera-type eye type II activin receptor binding cellular response to follicle-stimulating hormone stimulus cellular response to cholesterol GABAergic neuron differentiation extrinsic apoptotic signaling pathway positive regulation of extrinsic apoptotic signaling pathway in absence of ligand response to wounding uc003thr.1 uc003thr.2 uc003thr.3 uc003thr.4 uc003thr.5 
ENST00000242209.9 FKBP9 ENST00000242209.9 Homo sapiens FKBP prolyl isomerase 9 (FKBP9), transcript variant 1, mRNA. (from RefSeq NM_007270) B3KY35 ENST00000242209.1 ENST00000242209.2 ENST00000242209.3 ENST00000242209.4 ENST00000242209.5 ENST00000242209.6 ENST00000242209.7 ENST00000242209.8 FKBP60 FKBP63 FKBP9_HUMAN NM_007270 O95302 Q2M2A1 Q3MIR7 Q6IN76 Q6P2N1 Q96EX5 Q96IJ9 uc003tdh.1 uc003tdh.2 uc003tdh.3 uc003tdh.4 uc003tdh.5 uc003tdh.6 PPIases accelerate the folding of proteins during protein synthesis. Peptidylproline (omega=180) = peptidylproline (omega=0). Inhibited by FK506 (By similarity). Endoplasmic reticulum (By similarity). Phosphorylated (By similarity). Contains 2 EF-hand domains. Contains 4 PPIase FKBP-type domains. protein peptidyl-prolyl isomerization peptidyl-prolyl cis-trans isomerase activity calcium ion binding endoplasmic reticulum protein folding isomerase activity metal ion binding uc003tdh.1 uc003tdh.2 uc003tdh.3 uc003tdh.4 uc003tdh.5 uc003tdh.6 
ENST00000242248.10 POLM ENST00000242248.10 Homo sapiens DNA polymerase mu (POLM), transcript variant 6, non-coding RNA. (from RefSeq NR_156112) D3DVK4 DPOLM_HUMAN ENST00000242248.1 ENST00000242248.2 ENST00000242248.3 ENST00000242248.4 ENST00000242248.5 ENST00000242248.6 ENST00000242248.7 ENST00000242248.8 ENST00000242248.9 NR_156112 Q9NP87 polmu uc003tjt.1 uc003tjt.2 uc003tjt.3 uc003tjt.4 uc003tjt.5 uc003tjt.6 Gap-filling polymerase involved in repair of DNA double- strand breaks by non-homologous end joining (NHEJ). Participates in immunoglobulin (Ig) light chain gene rearrangement in V(D)J recombination. Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1). Magnesium (By similarity). Nucleus (By similarity). Expressed in a number of tissues. Abundant in thymus. DPOLM has a reduced ability to distinguish dNTP and rNTP as substrates, and elongates them on DNA primer strand with a similar efficiency. It is able to polymerize nucleotides on RNA primer strands. Belongs to the DNA polymerase type-X family. Contains 1 BRCT domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/polm/"; DNA binding DNA-directed DNA polymerase activity protein binding nucleus nucleoplasm DNA repair base-excision repair double-strand break repair via nonhomologous end joining DNA recombination cellular response to DNA damage stimulus somatic hypermutation of immunoglobulin genes transferase activity nucleotidyltransferase activity B cell differentiation DNA polymerase activity metal ion binding DNA biosynthetic process uc003tjt.1 uc003tjt.2 uc003tjt.3 uc003tjt.4 uc003tjt.5 uc003tjt.6 
ENST00000242257.14 MRM2 ENST00000242257.14 Homo sapiens mitochondrial rRNA methyltransferase 2 (MRM2), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_013393) ENST00000242257.1 ENST00000242257.10 ENST00000242257.11 ENST00000242257.12 ENST00000242257.13 ENST00000242257.2 ENST00000242257.3 ENST00000242257.4 ENST00000242257.5 ENST00000242257.6 ENST00000242257.7 ENST00000242257.8 ENST00000242257.9 NM_013393 V9HWJ9 uc003slm.1 uc003slm.2 uc003slm.3 uc003slm.4 uc003slm.5 The protein encoded by this gene is a member of the S-adenosylmethionine-binding protein family. It is a nucleolar protein and it may be involved in the processing and modification of rRNA. This gene has been suggested to be involved in cell cycle control and DNA repair. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: EU794658.1, AF093415.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000242257.14/ ENSP00000242257.8 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## uc003slm.1 uc003slm.2 uc003slm.3 uc003slm.4 uc003slm.5 
ENST00000242261.6 TWIST1 ENST00000242261.6 Homo sapiens twist family bHLH transcription factor 1 (TWIST1), transcript variant 1, mRNA. (from RefSeq NM_000474) A4D128 BHLHA38 ENST00000242261.1 ENST00000242261.2 ENST00000242261.3 ENST00000242261.4 ENST00000242261.5 NM_000474 Q15672 Q92487 Q99804 TWIST TWST1_HUMAN uc003sum.1 uc003sum.2 uc003sum.3 uc003sum.4 This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of genes involved in cranial suture closure during skull development. This protein may also regulate neural tube closure, limb development and brown fat metabolism. This gene is hypermethylated and overexpressed in multiple human cancers, and the encoded protein promotes tumor cell invasion and metastasis, as well as metastatic recurrence. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq, Jul 2020]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X99268.1, BC036704.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA2467147 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000242261.6/ ENSP00000242261.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Acts as a transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction probably involves the basic domains of both proteins. Also represses expression of proinflammatory cytokines such as TNFA and IL1B. Regulates cranial suture patterning and fusion. Activates transcription as a heterodimer with E proteins. Regulates gene expression differentially, depending on dimer composition. Homodimers induce expression of FGFR2 and POSTN while heterodimers repress FGFR2 and POSTN expression and induce THBS1 expression. Heterodimerization is also required for osteoblast differentiation. Efficient DNA binding requires dimerization with another bHLH protein. Homodimer or heterodimer with E proteins such as TCF3. ID1 binds preferentially to TCF3 but does not interact efficiently with TWIST1 so ID1 levels control the amount of TCF3 available to dimerize with TWIST1 and thus determine the type of dimer formed (By similarity). P15036:ETS2; NbExp=2; IntAct=EBI-1797287, EBI-1646991; Q92831:KAT2B; NbExp=2; IntAct=EBI-1797287, EBI-477430; P04637:TP53; NbExp=6; IntAct=EBI-1797287, EBI-366083; Nucleus. Subset of mesodermal cells. Defects in TWIST1 are a cause of Saethre-Chotzen syndrome (SCS) [MIM:101400]; also known as acrocephalosyndactyly type 3 (ACS3). SCS is a craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly. Defects in TWIST1 are the cause of Robinow-Sorauf syndrome (RSS) [MIM:180750]; also known as craniosynostosis-bifid hallux syndrome. RSS is an autosomal dominant defect characterized by minor skull and limb anomalies which is very similar to Saethre-Chotzen syndrome. Defects in TWIST1 are the cause of craniosynostosis type 1 (CRS1) [MIM:123100]. Craniosynostosis consists of premature fusion of one or more cranial sutures, resulting in an abnormal head shape. Contains 1 bHLH (basic helix-loop-helix) domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TWIST1"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding ossification osteoblast differentiation in utero embryonic development neuron migration neural tube closure aortic valve morphogenesis mitral valve morphogenesis endocardial cushion morphogenesis cardiac neural crest cell migration involved in outflow tract morphogenesis DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm multicellular organism development muscle organ development transcription factor binding positive regulation of gene expression positive regulation of epithelial to mesenchymal transition negative regulation of phosphatidylinositol 3-kinase signaling cytokine-mediated signaling pathway protein domain specific binding cell differentiation embryonic limb morphogenesis regulation of bone mineralization positive regulation of fatty acid beta-oxidation negative regulation of tumor necrosis factor production positive regulation of tumor necrosis factor production negative regulation of histone phosphorylation negative regulation of histone acetylation embryonic forelimb morphogenesis embryonic hindlimb morphogenesis hindlimb morphogenesis negative regulation of peroxisome proliferator activated receptor signaling pathway outer ear morphogenesis odontogenesis embryonic digit morphogenesis protein homodimerization activity negative regulation of apoptotic process bHLH transcription factor binding negative regulation of sequence-specific DNA binding transcription factor activity negative regulation of DNA damage response, signal transduction by p53 class mediator negative regulation of molecular function negative regulation of cell differentiation negative regulation of osteoblast differentiation positive regulation of angiogenesis negative regulation of striated muscle tissue development negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity protein dimerization activity rhythmic process negative regulation of skeletal muscle tissue development embryonic cranial skeleton morphogenesis embryonic skeletal system morphogenesis positive regulation of epithelial cell proliferation palate development bone development cranial suture morphogenesis embryonic camera-type eye formation eyelid development in camera-type eye cardiac neural crest cell development involved in outflow tract morphogenesis E-box binding cellular response to growth factor stimulus cellular response to hypoxia positive regulation of monocyte chemotactic protein-1 production positive regulation of DNA-templated transcription, initiation positive regulation of cell motility negative regulation of oxidative phosphorylation uncoupler activity positive regulation of transcription regulatory region DNA binding negative regulation of cellular senescence positive regulation of interleukin-6 secretion negative regulation of double-strand break repair cell proliferation involved in heart valve development positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation uc003sum.1 uc003sum.2 uc003sum.3 uc003sum.4 
ENST00000242275.7 SLC25A51 ENST00000242275.7 Homo sapiens solute carrier family 25 member 51 (SLC25A51), transcript variant 1, mRNA. (from RefSeq NM_033412) ENST00000242275.1 ENST00000242275.2 ENST00000242275.3 ENST00000242275.4 ENST00000242275.5 ENST00000242275.6 MCART1 NM_033412 Q9H1U9 S2551_HUMAN uc004aav.1 uc004aav.2 uc004aav.3 uc004aav.4 Mitochondrion inner membrane; Multi-pass membrane protein (Potential). Belongs to the mitochondrial carrier family. Contains 3 Solcar repeats. mitochondrion mitochondrial inner membrane membrane integral component of membrane uc004aav.1 uc004aav.2 uc004aav.3 uc004aav.4 
ENST00000242310.4 TAF1L ENST00000242310.4 Homo sapiens TATA-box binding protein associated factor 1 like (TAF1L), mRNA. (from RefSeq NM_153809) ENST00000242310.1 ENST00000242310.2 ENST00000242310.3 NM_153809 Q0VG57 Q8IZX4 TAF1L_HUMAN uc003zrg.1 This locus is intronless, and apparently arose in the primate lineage from retrotransposition of the transcript from the multi-exon TAF1 locus on the X chromosome. The gene is expressed in male germ cells, and the product has been shown to function interchangeably with the TAF1 product. [provided by RefSeq, Aug 2015]. ##Evidence-Data-START## Transcript is intronless :: AF390562.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000242310.4/ ENSP00000418379.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May act as a functional substitute for TAF1/TAFII250 during male meiosis, when sex chromosomes are transcriptionally silenced. Can bind directly to TATA-box binding protein (TBP). Interacts (via bromo domains) with acetylated lysine residues on the N-terminus of histone H1.4, H2A, H2B, H3 and H4 (in vitro). Nucleus (By similarity). Testis specific, expressed apparently in germ cells. Belongs to the TAF1 family. Contains 2 bromo domains. DNA binding histone acetyltransferase activity protein serine/threonine kinase activity cellular_component nucleus nucleoplasm transcription factor TFIID complex DNA-templated transcription, initiation regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter protein phosphorylation cell cycle male meiosis histone acetylation TBP-class protein binding sequence-specific DNA binding positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter lysine-acetylated histone binding regulation of signal transduction by p53 class mediator uc003zrg.1 
ENST00000242315.4 PHF24 ENST00000242315.4 Homo sapiens PHD finger protein 24 (PHF24), transcript variant 4, non-coding RNA. (from RefSeq NR_136308) B7Z253 ENST00000242315.1 ENST00000242315.2 ENST00000242315.3 K1045_HUMAN KIAA1045 NR_136308 Q58FE9 Q5T662 Q9UPV7 uc003zvr.1 uc003zvr.2 uc003zvr.3 uc003zvr.4 uc003zvr.5 Contains 1 PHD-type zinc finger. Sequence=BAA82997.1; Type=Erroneous initiation; gamma-aminobutyric acid signaling pathway regulation of G-protein coupled receptor protein signaling pathway regulation of synaptic transmission, GABAergic metal ion binding detection of mechanical stimulus involved in sensory perception of pain uc003zvr.1 uc003zvr.2 uc003zvr.3 uc003zvr.4 uc003zvr.5 
ENST00000242317.9 DNAI1 ENST00000242317.9 Homo sapiens dynein axonemal intermediate chain 1 (DNAI1), transcript variant 1, mRNA. (from RefSeq NM_012144) DNAI1_HUMAN ENST00000242317.1 ENST00000242317.2 ENST00000242317.3 ENST00000242317.4 ENST00000242317.5 ENST00000242317.6 ENST00000242317.7 ENST00000242317.8 NM_012144 Q5T8G7 Q8NHQ7 Q9UEZ8 Q9UI46 uc003zum.1 uc003zum.2 uc003zum.3 uc003zum.4 uc003zum.5 uc003zum.6 This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. Part of the dynein complex of respiratory cilia. Consists of at least two heavy chains and a number of intermediate and light chains. Cytoplasm, cytoskeleton, cilium axoneme. Defects in DNAI1 are the cause of primary ciliary dyskinesia type 1 (CILD1) [MIM:244400]. CILD1 is an autosomal recessive disorder characterized by axonemal abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. Defects in DNAI1 are the cause of Kartagener syndrome (KTGS) [MIM:244400]. KTGS is an autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera). Belongs to the dynein intermediate chain family. Contains 5 WD repeats. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DNAI1"; cilium movement motor activity protein binding cytoplasm cytoskeleton microtubule cilium microtubule-based movement determination of left/right symmetry cell projection organization dynein complex flagellated sperm motility outer dynein arm outer dynein arm assembly cell projection dynein light chain binding dynein heavy chain binding ATP-dependent microtubule motor activity, plus-end-directed uc003zum.1 uc003zum.2 uc003zum.3 uc003zum.4 uc003zum.5 uc003zum.6 
ENST00000242375.8 AKR1D1 ENST00000242375.8 Homo sapiens aldo-keto reductase family 1 member D1 (AKR1D1), transcript variant 1, mRNA. (from RefSeq NM_005989) A1L4P6 A8K060 AK1D1_HUMAN B4DPN3 B4DPN8 ENST00000242375.1 ENST00000242375.2 ENST00000242375.3 ENST00000242375.4 ENST00000242375.5 ENST00000242375.6 ENST00000242375.7 NM_005989 P51857 SRD5B1 uc003vtz.1 uc003vtz.2 uc003vtz.3 uc003vtz.4 uc003vtz.5 The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010]. Efficiently catalyzes the reduction of progesterone, androstenedione, 17-alpha-hydroxyprogesterone and testosterone to 5-beta-reduced metabolites. The bile acid intermediates 7- alpha,12-alpha-dihydroxy-4-cholesten-3-one and 7-alpha-hydroxy-4- cholesten-3-one can also act as substrates. 5-beta-cholestan-3-one + NADP(+) = cholest-4- en-3-one + NADPH. 17,21-dihydroxy-5-beta-pregnane-3,11,20-trione + NADP(+) = cortisone. Subject to inhibition by high substrate concentrations. Inhibited by testosterone concentrations above 10 uM. Kinetic parameters: KM=2.7 uM for testosterone; Cytoplasm. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P51857-1; Sequence=Displayed; Name=2; IsoId=P51857-2; Sequence=VSP_042901; Note=No experimental confirmation available; Name=3; IsoId=P51857-3; Sequence=VSP_042913; Note=No experimental confirmation available; Highly expressed in liver. Expressed in testis and weakly in colon. Defects in AKR1D1 are the cause of congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]; also known as cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency. Patients with this liver disease show absence or low levels of chenodeoxycholic acid and cholic acid in plasma and urine. Belongs to the aldo/keto reductase family. alditol:NADP+ 1-oxidoreductase activity aldo-keto reductase (NADP) activity steroid binding cytoplasm cytosol lipid metabolic process bile acid biosynthetic process cholesterol catabolic process digestion alcohol dehydrogenase (NADP+) activity steroid metabolic process C21-steroid hormone metabolic process androgen metabolic process lipid catabolic process steroid dehydrogenase activity oxidoreductase activity bile acid catabolic process ketosteroid monooxygenase activity delta4-3-oxosteroid 5beta-reductase activity oxidation-reduction process uc003vtz.1 uc003vtz.2 uc003vtz.3 uc003vtz.4 uc003vtz.5 
ENST00000242462.5 NEUROG3 ENST00000242462.5 Homo sapiens neurogenin 3 (NEUROG3), mRNA. (from RefSeq NM_020999) ATOH5 BHLHA7 ENST00000242462.1 ENST00000242462.2 ENST00000242462.3 ENST00000242462.4 NGN3 NGN3_HUMAN NM_020999 Q5VVI0 Q6DJX6 Q9BY24 Q9Y4Z2 uc001jpp.1 uc001jpp.2 uc001jpp.3 uc001jpp.4 uc001jpp.5 The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor involved in neurogenesis. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of congenital malabsorptive diarrhea 4 (DIAR4).[provided by RefSeq, May 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC069098.1, AK313952.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142348, SAMEA2144120 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000242462.5/ ENSP00000242462.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Acts as a transcriptional regulator. Together with NKX2- 2, initiates transcriptional activation of NEUROD1. Involved in neurogenesis. Also required for the specification of a common precursor of the 4 pancreatic endocrine cell types (By similarity). Efficient DNA binding requires dimerization with another bHLH protein (By similarity). Nucleus (Potential). Defects in NEUROG3 are the cause of diarrhea type 4 (DIAR4) [MIM:610370]. DIAR4 is a characterized by severe, life- threatening watery diarrhea associated with generalized malabsorption and a paucity of enteroendocrine cells. Contains 1 bHLH (basic helix-loop-helix) domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding double-stranded DNA binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity protein binding nucleus cytoplasm regulation of transcription, DNA-templated multicellular organism development nervous system development central nervous system development peripheral nervous system development spinal cord development neurogenesis cell differentiation epithelial cell differentiation forebrain development hindbrain development endocrine pancreas development chromatin DNA binding positive regulation of cell differentiation positive regulation of neuron differentiation positive regulation of transcription from RNA polymerase II promoter protein dimerization activity regulation of dendrite morphogenesis positive regulation of sequence-specific DNA binding transcription factor activity transdifferentiation uc001jpp.1 uc001jpp.2 uc001jpp.3 uc001jpp.4 uc001jpp.5 
ENST00000242465.4 SRGN ENST00000242465.4 Homo sapiens serglycin (SRGN), transcript variant 1, mRNA. (from RefSeq NM_002727) B2R4L7 ENST00000242465.1 ENST00000242465.2 ENST00000242465.3 NM_002727 P10124 PRG PRG1 Q5VW06 SRGN_HUMAN uc001joz.1 uc001joz.2 uc001joz.3 uc001joz.4 uc001joz.5 This gene encodes a protein best known as a hematopoietic cell granule proteoglycan. Proteoglycans stored in the secretory granules of many hematopoietic cells also contain a protease-resistant peptide core, which may be important for neutralizing hydrolytic enzymes. This encoded protein was found to be associated with the macromolecular complex of granzymes and perforin, which may serve as a mediator of granule-mediated apoptosis. Two transcript variants, only one of them protein-coding, have been found for this gene. [provided by RefSeq, Jul 2010]. Plays a role in formation of mast cell secretory granules and mediates storage of various compounds in secretory vesicles. Required for storage of some proteases in both connective tissue and mucosal mast cells and for storage of granzyme B in T-lymphocytes. Plays a role in localizing neutrophil elastase in azurophil granules of neutrophils. Mediates processing of MMP2. Plays a role in cytotoxic cell granule-mediated apoptosis by forming a complex with granzyme B which is delivered to cells by perforin to induce apoptosis. Regulates the secretion of TNF- alpha and may also regulate protease secretion. Inhibits bone mineralization. Binds to activated CD44 and to GZMB. P10144:GZMB; NbExp=2; IntAct=EBI-744915, EBI-2505785; Cytoplasmic granule (By similarity). Secreted, extracellular space. Golgi apparatus. Note=Found in mast cell granules and in cytoplasmic granules of cytolytic T lymphocytes from where it is secreted upon cell activation. Secreted constitutively by endothelial cells and macrophages. Located to Golgi apparatus during neutrophil differentiation. By Epstein-Barr virus (EBV). O-glycosylated; contains chondroitin sulfate and heparan sulfate (By similarity). Belongs to the serglycin family. platelet degranulation protein binding extracellular region extracellular space Golgi apparatus apoptotic process granzyme-mediated apoptotic signaling pathway protein processing negative regulation of bone mineralization platelet alpha granule lumen biomineral tissue development mast cell secretory granule organization T cell secretory granule organization maintenance of protease location in mast cell secretory granule maintenance of granzyme B location in T cell secretory granule mast cell granule negative regulation of cytokine secretion uc001joz.1 uc001joz.2 uc001joz.3 uc001joz.4 uc001joz.5 
ENST00000242505.11 FAM149B1 ENST00000242505.11 Homo sapiens family with sequence similarity 149 member B1 (FAM149B1), mRNA. (from RefSeq NM_173348) ENST00000242505.1 ENST00000242505.10 ENST00000242505.2 ENST00000242505.3 ENST00000242505.4 ENST00000242505.5 ENST00000242505.6 ENST00000242505.7 ENST00000242505.8 ENST00000242505.9 F149B_HUMAN KIAA0974 NM_173348 Q96BN6 Q9Y2I0 uc009xqz.1 uc009xqz.2 uc009xqz.3 uc009xqz.4 uc009xqz.5 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96BN6-1; Sequence=Displayed; Name=2; IsoId=Q96BN6-2; Sequence=VSP_031533, VSP_031534; Note=No experimental confirmation available; Belongs to the FAM149 family. Sequence=AAH15394.1; Type=Erroneous initiation; uc009xqz.1 uc009xqz.2 uc009xqz.3 uc009xqz.4 uc009xqz.5 
ENST00000242576.7 UNG ENST00000242576.7 Homo sapiens uracil DNA glycosylase (UNG), transcript variant 2, mRNA. (from RefSeq NM_080911) A8K5M6 B2R8Y1 DGU ENST00000242576.1 ENST00000242576.2 ENST00000242576.3 ENST00000242576.4 ENST00000242576.5 ENST00000242576.6 NM_080911 O00637 O00719 P13051 Q93028 UNG1 UNG15 UNG_HUMAN uc001tnz.1 uc001tnz.2 uc001tnz.3 uc001tnz.4 This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. The UNG2 term was used as a previous symbol for the CCNO gene (GeneID 10309), which has been confused with this gene, in the literature and some databases. [provided by RefSeq, Nov 2010]. Excises uracil residues from the DNA which can arise as a result of misincorporation of dUMP residues by DNA polymerase or due to deamination of cytosine. Hydrolyzes single-stranded DNA or mismatched double-stranded DNA and polynucleotides, releasing free uracil. Monomer. Interacts with HIV-1 Vpr. Interacts with FAM72A. Isoform 1: Mitochondrion. Isoform 2: Nucleus. Event=Alternative splicing; Named isoforms=2; Name=2; Synonyms=UNG2; IsoId=P13051-1; Sequence=Displayed; Name=1; Synonyms=UNG1; IsoId=P13051-2; Sequence=VSP_008513; Isoform 1 is widely expressed with the highest expression in skeletal muscle, heart and testicles. Isoform 2 has the highest expression levels in tissues containing proliferating cells. Isoform 1 is processed by cleavage of a transit peptide. Defects in UNG are a cause of immunodeficiency with hyper-IgM type 5 (HIGM5) [MIM:608106]. A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections. Belongs to the uracil-DNA glycosylase family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UNG"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ung/"; Name=UNGbase; Note=UNG mutation db; URL="http://bioinf.uta.fi/UNGbase/"; damaged DNA binding uracil DNA N-glycosylase activity protein binding nucleus nucleoplasm mitochondrion DNA repair base-excision repair cellular response to DNA damage stimulus viral process somatic hypermutation of immunoglobulin genes somatic recombination of immunoglobulin gene segments hydrolase activity hydrolase activity, hydrolyzing N-glycosyl compounds ribosomal small subunit binding negative regulation of apoptotic process depyrimidination isotype switching base-excision repair, AP site formation via deaminated base removal uc001tnz.1 uc001tnz.2 uc001tnz.3 uc001tnz.4 
ENST00000242592.9 ACADS ENST00000242592.9 Homo sapiens acyl-CoA dehydrogenase short chain (ACADS), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_000017) ACADS_HUMAN ENST00000242592.1 ENST00000242592.2 ENST00000242592.3 ENST00000242592.4 ENST00000242592.5 ENST00000242592.6 ENST00000242592.7 ENST00000242592.8 NM_000017 P16219 P78331 uc001tza.1 uc001tza.2 uc001tza.3 uc001tza.4 uc001tza.5 uc001tza.6 This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [provided by RefSeq, Oct 2014]. Butanoyl-CoA + electron-transfer flavoprotein = 2-butenoyl-CoA + reduced electron-transfer flavoprotein. FAD. Lipid metabolism; mitochondrial fatty acid beta- oxidation. Homotetramer. Mitochondrion matrix. Defects in ACADS are the cause of acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]. It is an autosomal recessive disorder resulting in acute acidosis and muscle weakness in infants, and a form of lipid-storage myopathy in adults. A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues. Belongs to the acyl-CoA dehydrogenase family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACADS"; Name=Wikipedia; Note=Butyryl-CoA dehydrogenase entry; URL="http://en.wikipedia.org/wiki/Butyryl_CoA_dehydrogenase"; acyl-CoA dehydrogenase activity butyryl-CoA dehydrogenase activity nucleus nucleoplasm mitochondrion mitochondrial matrix lipid metabolic process fatty acid metabolic process fatty acid beta-oxidation oxidoreductase activity oxidoreductase activity, acting on the CH-CH group of donors fatty acid beta-oxidation using acyl-CoA dehydrogenase butyrate catabolic process flavin adenine dinucleotide binding oxidation-reduction process uc001tza.1 uc001tza.2 uc001tza.3 uc001tza.4 uc001tza.5 uc001tza.6 
ENST00000242607.13 HVCN1 ENST00000242607.13 Homo sapiens hydrogen voltage gated channel 1 (HVCN1), transcript variant 2, mRNA. (from RefSeq NM_032369) A8MQ37 ENST00000242607.1 ENST00000242607.10 ENST00000242607.11 ENST00000242607.12 ENST00000242607.2 ENST00000242607.3 ENST00000242607.4 ENST00000242607.5 ENST00000242607.6 ENST00000242607.7 ENST00000242607.8 ENST00000242607.9 HVCN1_HUMAN NM_032369 Q6UW11 Q96D96 Q96IS5 UNQ578/PRO1140 VSOP uc001trs.1 uc001trs.2 uc001trs.3 uc001trs.4 This gene encodes a voltage-gated protein channel protein expressed more highly in certain cells of the immune system. Phagocytic cells produce superoxide anions which require this channel protein, and in B cells this same process facilitates antibody production. This same channel protein, however, can also regulate functions in other cells including spermatozoa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. Mediates the voltage-dependent proton permeability of excitable membranes. Forms a proton-selective channel through which protons may pass in accordance with their electrochemical gradient. Proton efflux, accompanied by membrane depolarization, facilitates acute production of reactive oxygen species in phagocytosis. Sensitive to zinc ions and is inhibited by them. Homodimer. Membrane; Multi-pass membrane protein. Note=Associates mainly with intracellular compartment membranes. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96D96-1; Sequence=Displayed; Name=2; IsoId=Q96D96-2; Sequence=VSP_034395; Name=3; IsoId=Q96D96-3; Sequence=VSP_034396; Note=No experimental confirmation available; Enriched in immune tissues, such as lymph nodes, B-lymphocytes, monocytes and spleen. The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Unlike other voltage-gated ion channels it lacks the pore domain. The C-terminal coiled coil region mediates homodimerization and is essential for localization. Belongs to the hydrogen channel family. Sequence=AAQ89413.1; Type=Frameshift; Positions=164, 175; ion channel activity voltage-gated ion channel activity plasma membrane integral component of plasma membrane ion transport response to pH response to zinc ion membrane integral component of membrane voltage-gated cation channel activity voltage-gated proton channel activity secretory granule membrane phagocytic vesicle membrane regulation of ion transmembrane transport sperm-egg recognition specific granule membrane identical protein binding neutrophil degranulation cell redox homeostasis transmembrane transport cellular response to zinc ion cellular response to pH hydrogen ion transmembrane transport uc001trs.1 uc001trs.2 uc001trs.3 uc001trs.4 
ENST00000242719.4 RNF11 ENST00000242719.4 Homo sapiens ring finger protein 11 (RNF11), mRNA. (from RefSeq NM_014372) A8KAI2 CGI-123 ENST00000242719.1 ENST00000242719.2 ENST00000242719.3 NM_014372 Q5T7R8 Q9Y3C5 RNF11_HUMAN uc001csi.1 uc001csi.2 uc001csi.3 uc001csi.4 uc001csi.5 uc001csi.6 The protein encoded by this gene contains a RING-H2 finger motif, which is known to be important for protein-protein interactions. The expression of this gene has been shown to be induced by mutant RET proteins (MEN2A/MEN2B). The germline mutations in RET gene are known to be responsible for the development of multiple endocrine neoplasia (MEN). [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660809.213058.1, SRR1660803.151881.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000242719.4/ ENSP00000242719.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Essential component of a ubiquitin-editing protein complex, comprising also TNFAIP3, ITCH and TAX1BP1, that ensures the transient nature of inflammatory signaling pathways. Promotes the association of TNFAIP3 to RIPK1 after TNF stimulation. TNFAIP3 deubiquitinates 'Lys-63' polyubiquitin chains on RIPK1 and catalyzes the formation of 'Lys-48'-polyubiquitin chains. This leads to RIPK1 proteasomal degradation and consequently termination of the TNF- or LPS-mediated activation of NF-kappa-B. Recruits STAMBP to the E3 ubiquitin-ligase SMURF2 for ubiquitination, leading to its degradation by the 26S proteasome. Interacts (when phosphorylated) with 14-3-3. Interacts with the E3 ubiquitin-ligases NEDD4, ITCH, SMURF2 and WWP1 (By similarity). Also interacts with the E2 ubiquitin-conjugating enzymes UBE2D1 and UBE2N, but neither with CDC34, nor with UBE2L3. Interacts with ZNF350, EPS15 and STAMBP. After TNF stimulation, interacts with TAX1BP1, TNFAIP3 and RIPK1; these interaction are transient and they are lost after 1 hour of stimulation with TNF (By similarity). Interacts with GGA1. Q9UJY5:GGA1; NbExp=2; IntAct=EBI-396669, EBI-447141; Q96J02:ITCH; NbExp=2; IntAct=EBI-396669, EBI-1564678; Q9HAU4:SMURF2; NbExp=3; IntAct=EBI-396669, EBI-396727; O95630:STAMBP; NbExp=2; IntAct=EBI-396669, EBI-396676; P0CG47:UBB; NbExp=2; IntAct=EBI-396669, EBI-413034; P51668:UBE2D1; NbExp=4; IntAct=EBI-396669, EBI-743540; P62837:UBE2D2; NbExp=4; IntAct=EBI-396669, EBI-347677; P61077:UBE2D3; NbExp=3; IntAct=EBI-396669, EBI-348268; P51965:UBE2E1; NbExp=2; IntAct=EBI-396669, EBI-348546; P61088:UBE2N; NbExp=3; IntAct=EBI-396669, EBI-1052908; Early endosome. Recycling endosome. Cytoplasm. Nucleus. Note=Predominantly cytoplasmic, when unphosphorylated, and nuclear, when phosphorylated by PKB/AKT1 (PubMed:16123141). Expressed at low levels in the lung, liver, kidney, pancreas, spleen, prostate, thymus, ovary, small intestine, colon, and peripheral blood lymphocytes, and, at intermediate levels, in the testis, heart, brain and placenta. Highest expression in the skeletal muscle. In the brain, expressed at different levels in several regions: high levels in the amygdala, moderate in the hippocampus and thalamus, low in the caudate and extremely low levels in the corpus callosum (at protein level). Restricted to neurons, enriched in somatodendritic compartments and excluded from white matter (at protein level). In substantia nigra, present in cell bodies and processes of dopaminergic and nondopaminergic cells (at protein level). In Parkinson disease, sequestered in Lewy bodies and neurites. Overexpressed in breast cancer cells, but not detected in the surrounding stroma and weakly, if at all, in normal breast epithelial cells (at protein level). Also expressed in several tumor cell lines. The WW-binding motif mediates interaction with NEDD4 (By similarity). Ubiquitinated in the presence of ITCH, or SMURF2, and UBE2D1, as well as WWP1. Phosphorylation by PKB/AKT1 may accelerate degradation by the proteasome. May be acylated at Cys-4, possibly palmitoylated. Acylation at both Gly-2 and Cys-4 is required for proper localization to the endosomes. Contains 1 RING-type zinc finger. ubiquitin ligase complex DNA binding ubiquitin-protein transferase activity protein binding nucleus cytoplasm endosome early endosome ubiquitin-dependent protein catabolic process zinc ion binding metal ion binding protein autoubiquitination recycling endosome extracellular exosome uc001csi.1 uc001csi.2 uc001csi.3 uc001csi.4 uc001csi.5 uc001csi.6 
ENST00000242728.5 BHLHE41 ENST00000242728.5 Homo sapiens basic helix-loop-helix family member e41 (BHLHE41), mRNA. (from RefSeq NM_030762) A2I2N8 BHE41_HUMAN BHLHB3 DEC2 ENST00000242728.1 ENST00000242728.2 ENST00000242728.3 ENST00000242728.4 NM_030762 Q9C0J9 SHARP1 uc001rhb.1 uc001rhb.2 uc001rhb.3 uc001rhb.4 uc001rhb.5 This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype. [provided by RefSeq, Feb 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB044088.1, BC025968.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000242728.5/ ENSP00000242728.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May be a transcriptional repressor that represses both basal and activated transcription. Homodimerize. Nucleus (By similarity). Highly expressed in skeletal muscle and brain, moderately expressed in pancreas and heart, weakly expressed in placenta, lung, liver and kidney. Genetic variations in BHLHE41 are associated with the short sleep phenotype [MIM:612975]. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group. Contains 1 bHLH (basic helix-loop-helix) domain. Contains 1 Orange domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II activating transcription factor binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription corepressor activity protein binding nucleus regulation of transcription, DNA-templated circadian rhythm cell proliferation animal organ morphogenesis anterior/posterior pattern specification negative regulation of myotube differentiation negative regulation of transcription by competitive promoter binding cell differentiation circadian regulation of gene expression protein homodimerization activity histone deacetylase binding bHLH transcription factor binding MRF binding negative regulation of transcription, DNA-templated protein heterodimerization activity protein dimerization activity rhythmic process regulation of neurogenesis E-box binding uc001rhb.1 uc001rhb.2 uc001rhb.3 uc001rhb.4 uc001rhb.5 
ENST00000242729.7 SSPN ENST00000242729.7 Homo sapiens sarcospan (SSPN), transcript variant 1, mRNA. (from RefSeq NM_005086) ENST00000242729.1 ENST00000242729.2 ENST00000242729.3 ENST00000242729.4 ENST00000242729.5 ENST00000242729.6 KRAG NM_005086 Q14714 SSPN_HUMAN uc001rhe.1 uc001rhe.2 uc001rhe.3 uc001rhe.4 uc001rhe.5 This gene encodes a member of the dystrophin-glycoprotein complex (DGC). The DGC spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Two alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]. Component of the dystrophin-glycoprotein complex (DGC), a complex that spans the muscle plasma membrane and forms a link between the F-actin cytoskeleton and the extracellular matrix. Preferentially associates with the sarcoglycan subcomplex of the DGC. Cell membrane; Multi-pass membrane protein (By similarity). Cell membrane, sarcolemma (By similarity). Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein (By similarity). Note=Also found in myotendinous junctions and in the postsynaptic membrane of neuromuscular junctions (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=SPN1; IsoId=Q14714-1; Sequence=Displayed; Name=2; Synonyms=SPN2; IsoId=Q14714-2; Sequence=VSP_004431; Isoform 1 is expressed exclusively in heart and skeletal muscle. Isoform 2 is expressed in heart, skeletal muscle, thymus, prostate, testis, ovary, small intestine, colon and spleen. plasma membrane integral component of plasma membrane muscle contraction cell adhesion dystrophin-associated glycoprotein complex membrane integral component of membrane cell junction transport vesicle sarcolemma synapse postsynaptic membrane uc001rhe.1 uc001rhe.2 uc001rhe.3 uc001rhe.4 uc001rhe.5 
ENST00000242776.9 DDX39A ENST00000242776.9 Homo sapiens DExD-box helicase 39A (DDX39A), transcript variant 1, mRNA. (from RefSeq NM_005804) DDX39 DX39A_HUMAN ENST00000242776.1 ENST00000242776.2 ENST00000242776.3 ENST00000242776.4 ENST00000242776.5 ENST00000242776.6 ENST00000242776.7 ENST00000242776.8 NM_005804 O00148 Q9BVP6 Q9H5W0 uc002myo.1 uc002myo.2 uc002myo.3 uc002myo.4 uc002myo.5 This gene encodes a member of the DEAD box protein family. These proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD) and are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is thought to play a role in the prognosis of patients with gastrointestinal stromal tumors. A pseudogene of this gene is present on chromosome 13. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]. Involved in pre-mRNA splicing. Required for the export of mRNA out of the nucleus. ATP + H(2)O = ADP + phosphate. Binds ALYREF/THOC4 and DDX39B/BAT1. Interacts with SARNP. Interacts with human cytomegalovirus/HHV-5 protein UL69. Nucleus (By similarity). Detected in testis, and at lower levels in brain, kidney, lung, thymus, spleen and salivary gland. Up-regulated in proliferating cells. Present at low levels in quiescent cells. Belongs to the DEAD box helicase family. DECD subfamily. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain. Sequence=BAB15509.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; nucleotide binding transcription export complex mRNA splicing, via spliceosome nucleic acid binding RNA binding RNA helicase activity helicase activity protein binding ATP binding nucleus nucleoplasm cytoplasm mRNA processing RNA export from nucleus mRNA export from nucleus RNA splicing membrane nuclear speck hydrolase activity ATPase activity mRNA 3'-end processing identical protein binding uc002myo.1 uc002myo.2 uc002myo.3 uc002myo.4 uc002myo.5 
ENST00000242783.11 PKN1 ENST00000242783.11 Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA. (from RefSeq NM_002741) A8K7W5 B2R9R4 B3KVN3 ENST00000242783.1 ENST00000242783.10 ENST00000242783.2 ENST00000242783.3 ENST00000242783.4 ENST00000242783.5 ENST00000242783.6 ENST00000242783.7 ENST00000242783.8 ENST00000242783.9 NM_002741 PAK1 PKN PKN1_HUMAN PRK1 PRKCL1 Q15143 Q16512 Q504U4 Q8IUV5 Q9UD44 uc002myp.1 uc002myp.2 uc002myp.3 uc002myp.4 uc002myp.5 The protein encoded by this gene belongs to the protein kinase C superfamily. This kinase is activated by Rho family of small G proteins and may mediate the Rho-dependent signaling pathway. This kinase can be activated by phospholipids and by limited proteolysis. The 3-phosphoinositide dependent protein kinase-1 (PDPK1/PDK1) is reported to phosphorylate this kinase, which may mediate insulin signals to the actin cytoskeleton. The proteolytic activation of this kinase by caspase-3 or related proteases during apoptosis suggests its role in signal transduction related to apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. PKC-related serine/threonine-protein kinase involved in various processes such as regulation of the intermediate filaments of the actin cytoskeleton, cell migration, tumor cell invasion and transcription regulation. Regulates the cytoskeletal network by phosphorylating proteins such as VIM and neurofilament proteins NEFH, NEFL and NEFM, leading to inhibit their polymerization. Phosphorylates 'Ser-575', 'Ser-637' and 'Ser-669' of MAPT/Tau, lowering its ability to bind to microtubules, resulting in disruption of tubulin assembly. Acts as a key coactivator of androgen receptor (ANDR)-dependent transcription, by being recruited to ANDR target genes and specifically mediating phosphorylation of 'Thr-11' of histone H3 (H3T11ph), a specific tag for epigenetic transcriptional activation that promotes demethylation of histone H3 'Lys-9' (H3K9me) by KDM4C/JMJD2C. Phosphorylates HDAC5, HDAC7 and HDAC9, leading to impair their import in the nucleus. Phosphorylates 'Thr-38' of PPP1R14A, 'Ser- 159', 'Ser-163' and 'Ser-170' of MARCKS, and GFAP. Able to phosphorylate RPS6 in vitro. ATP + a protein = ADP + a phosphoprotein. Kinase activity is activated upon binding to Rho proteins (RHOA, RHOB and RAC1). Activated by lipids, particularly cardiolipin and to a lesser extent by other acidic phospholipids. Activated by caspase-3 (CASP3) cleavage during apoptosis. Two specific sites, Thr-774 (activation loop of the kinase domain) and Ser-916 (turn motif), need to be phosphorylated for its full activation. Kinetic parameters: KM=20.6 uM for HDAC5; Interacts with ZA20D3 (By similarity). Interacts with ANDR. Interacts with PRKCB. Interacts (via REM 1 and REM 2 repeats) with RAC1. Interacts (via REM 1 repeat) with RHOA. Interacts with RHOB. In case of infection, interacts with S.typhimurium protein sspH1. Interacts (via C-terminus) with PDPK1. Q15834:CCDC85B; NbExp=2; IntAct=EBI-602382, EBI-739674; P53778:MAPK12; NbExp=2; IntAct=EBI-602382, EBI-602406; Q9NYL2-1:MLTK; NbExp=2; IntAct=EBI-602382, EBI-687346; Cytoplasm. Nucleus. Endosome. Cell membrane; Peripheral membrane protein. Cleavage furrow. Midbody. Note=Associates with chromatin in a ligand-dependent manner. Localization to endosomes is mediated via its interaction with RHOB. Association to the cell membrane is dependent on Ser-374 phosphorylation. Accumulates during telophase at the cleavage furrow and finally concentrates around the midbody in cytokinesis. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q16512-1; Sequence=Displayed; Name=2; IsoId=Q16512-2; Sequence=VSP_038143; Note=No experimental confirmation available; Name=3; IsoId=Q16512-3; Sequence=VSP_039213, VSP_039214; Note=No experimental confirmation available; Found ubiquitously. Expressed in heart, brain, placenta, lung, skeletal muscle, kidney and pancreas. Expressed in numerous tumor cell lines, especially in breast tumor cells. The C1 domain does not bind the diacylglycerol (DAG). Autophosphorylated; preferably on serine. Phosphorylated during mitosis. Activated by limited proteolysis with trypsin (By similarity). Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily. Contains 1 AGC-kinase C-terminal domain. Contains 1 C2 domain. Contains 1 protein kinase domain. Contains 3 REM (Hr1) repeats. nucleotide binding B cell homeostasis B cell apoptotic process negative regulation of protein phosphorylation regulation of germinal center formation regulation of immunoglobulin production renal system process chromatin binding protein kinase activity protein serine/threonine kinase activity protein kinase C activity protein kinase C binding protein binding ATP binding nucleus nucleoplasm cytoplasm endosome cytosol plasma membrane chromatin organization regulation of transcription from RNA polymerase II promoter protein phosphorylation negative regulation of protein kinase activity hyperosmotic response signal transduction activation of JUN kinase activity epithelial cell migration membrane kinase activity phosphorylation transferase activity GTP-Rho binding peptidyl-serine phosphorylation ligand-dependent nuclear receptor transcription coactivator activity midbody negative regulation of B cell proliferation cytoplasmic vesicle cleavage furrow macromolecular complex histone kinase activity (H3-T11 specific) histone H3-T11 phosphorylation intracellular signal transduction histone binding histone deacetylase binding Rac GTPase binding spleen development androgen receptor binding positive regulation of nucleic acid-templated transcription regulation of cell motility uc002myp.1 uc002myp.2 uc002myp.3 uc002myp.4 uc002myp.5 
ENST00000242784.5 TRIR ENST00000242784.5 Homo sapiens telomerase RNA component interacting RNase (TRIR), transcript variant 1, mRNA. (from RefSeq NM_024038) C19orf43 CS043_HUMAN ENST00000242784.1 ENST00000242784.2 ENST00000242784.3 ENST00000242784.4 NM_024038 Q9BQ61 uc002muu.1 uc002muu.2 uc002muu.3 uc002muu.4 uc002muu.5 RNA binding nuclease activity exonuclease activity protein binding 3'-5' exonuclease activity 5'-3' exonuclease activity rRNA catabolic process hydrolase activity RNA phosphodiester bond hydrolysis, exonucleolytic uc002muu.1 uc002muu.2 uc002muu.3 uc002muu.4 uc002muu.5 
ENST00000242786.6 ADGRE5 ENST00000242786.6 Homo sapiens adhesion G protein-coupled receptor E5 (ADGRE5), transcript variant 1, mRNA. (from RefSeq NM_078481) A8K7Z4 B2RBJ9 CD97 CD97_HUMAN ENST00000242786.1 ENST00000242786.2 ENST00000242786.3 ENST00000242786.4 ENST00000242786.5 NM_078481 O00718 O76101 P48960 Q8NG72 Q8TBQ7 uc002myl.1 uc002myl.2 uc002myl.3 uc002myl.4 uc002myl.5 This gene encodes a member of the EGF-TM7 subfamily of adhesion G protein-coupled receptors, which mediate cell-cell interactions. These proteins are cleaved by self-catalytic proteolysis into a large extracellular subunit and seven-span transmembrane subunit, which associate at the cell surface as a receptor complex. The encoded protein may play a role in cell adhesion as well as leukocyte recruitment, activation and migration, and contains multiple extracellular EGF-like repeats which mediate binding to chondroitin sulfate and the cell surface complement regulatory protein CD55. Expression of this gene may play a role in the progression of several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms with 3 to 5 EGF-like repeats have been observed for this gene. This gene is found in a cluster with other EGF-TM7 genes on the short arm of chromosome 19. [provided by RefSeq, Jun 2011]. Receptor potentially involved in both adhesion and signaling processes early after leukocyte activation. Plays an essential role in leukocyte migration (By similarity). Forms a heterodimer, consisting of a large extracellular region (alpha subunit) non-covalently linked to a seven- transmembrane moiety (beta subunit). Interacts with complement decay-accelerating factor (DAF). The largest isoform (isoform 1) interacts with chondroitin sulfate. Cell membrane; Multi-pass membrane protein. CD97 antigen subunit alpha: Secreted, extracellular space. Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=EGF(1,2,3,4,5); IsoId=P48960-1; Sequence=Displayed; Name=2; Synonyms=EGF(1,2,5); IsoId=P48960-2; Sequence=VSP_009411; Name=3; Synonyms=EGF(1,2,3,5); IsoId=P48960-3; Sequence=VSP_009412; Broadly expressed, found on most hematopoietic cells, including activated lymphocytes, monocytes, macrophages, dendritic cells, and granulocytes. Expressed also abundantly by smooth muscle cells. Expressed in thyroid, colorectal, gastric, esophageal and pancreatic carcinomas too. Expression are increased under inflammatory conditions in the CNS of multiple sclerosis and in synovial tissue of patients with rheumatoid arthritis. Increased expression of CD97 in the synovium is accompagnied by detectable levels of soluble CD97 in the synovial fluid. Rapid up-regulation during lymphocyte activation. The first two EGF domains mediate the interaction with DAF. A third tandemly arranged EGF domain is necessary for the structural integrity of the binding region. Binding to chondroitin sulfate is mediated by the fourth EGF domain. Proteolytically cleaved into 2 subunits, an extracellular alpha subunit and a seven-transmembrane subunit (By similarity). Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. Contains 5 EGF-like domains. Contains 1 GPS domain. Sequence=AAC27673.1; Type=Erroneous gene model prediction; Sequence=BAC06178.1; Type=Erroneous gene model prediction; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CD97ID996ch19p13.html"; transmembrane signaling receptor activity G-protein coupled receptor activity calcium ion binding protein binding extracellular region extracellular space plasma membrane integral component of plasma membrane focal adhesion inflammatory response immune response cell adhesion signal transduction cell surface receptor signaling pathway G-protein coupled receptor signaling pathway adenylate cyclase-activating G-protein coupled receptor signaling pathway cell-cell signaling membrane integral component of membrane secretory granule membrane neutrophil degranulation extracellular exosome uc002myl.1 uc002myl.2 uc002myl.3 uc002myl.4 uc002myl.5 
ENST00000242804.9 ZNF442 ENST00000242804.9 Homo sapiens zinc finger protein 442 (ZNF442), transcript variant 1, mRNA. (from RefSeq NM_030824) ENST00000242804.1 ENST00000242804.2 ENST00000242804.3 ENST00000242804.4 ENST00000242804.5 ENST00000242804.6 ENST00000242804.7 ENST00000242804.8 NM_030824 Q9H7R0 ZN442_HUMAN uc002mtr.1 uc002mtr.2 uc002mtr.3 May be involved in transcriptional regulation. Nucleus (Potential). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 16 C2H2-type zinc fingers. Contains 1 KRAB domain. nucleic acid binding DNA binding nucleus regulation of transcription, DNA-templated metal ion binding uc002mtr.1 uc002mtr.2 uc002mtr.3 
ENST00000242810.11 KLHL24 ENST00000242810.11 Homo sapiens kelch like family member 24 (KLHL24), transcript variant 20, non-coding RNA. (from RefSeq NR_146170) A5PLN8 DRE1 ENST00000242810.1 ENST00000242810.10 ENST00000242810.2 ENST00000242810.3 ENST00000242810.4 ENST00000242810.5 ENST00000242810.6 ENST00000242810.7 ENST00000242810.8 ENST00000242810.9 KLH24_HUMAN NR_146170 Q6TFL4 Q9H620 Q9NXT9 uc003flv.1 uc003flv.2 uc003flv.3 uc003flv.4 uc003flv.5 The protein encoded by this gene is a ubiquitin ligase substrate receptor and is regulated by autoubiquitination. Variations in the translation initiation codon of this gene have been found, which result in an N-terminally truncated but more stable protein due to loss of the autoubiquitination function. The more stable mutant protein causes an increased ubiquitin and degradation of keratin 14, which leads to skin fragility and the potentially life-threatening disease epidermolysis bullosa. The encoded protein is also involved in the regulation of kainate receptors. [provided by RefSeq, Mar 2017]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.581672.1, SRR1803615.93310.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## Specifically reduces kainate receptor-mediated currents in hippocampal neurons, most probably by modulating channel properties (By similarity). Forms homodimers. Interacts with GRIK2 (By similarity). Perikaryon. Cell projection, axon (By similarity). Cytoplasm (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6TFL4-1; Sequence=Displayed; Name=2; IsoId=Q6TFL4-2; Sequence=VSP_028644, VSP_028645; Note=No experimental confirmation available; Contains 1 BACK (BTB/Kelch associated) domain. Contains 1 BTB (POZ) domain. Contains 6 Kelch repeats. Sequence=BAA90921.1; Type=Erroneous initiation; Sequence=BAB15447.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; protein binding cytoplasm adherens junction protein ubiquitination cell junction desmosome axon Cul3-RING ubiquitin ligase complex cell projection perikaryon intermediate filament organization protein autoubiquitination regulation of kainate selective glutamate receptor activity uc003flv.1 uc003flv.2 uc003flv.3 uc003flv.4 uc003flv.5 
ENST00000242819.7 CCDC70 ENST00000242819.7 Homo sapiens coiled-coil domain containing 70 (CCDC70), transcript variant 2, mRNA. (from RefSeq NM_031290) CCD70_HUMAN ENST00000242819.1 ENST00000242819.2 ENST00000242819.3 ENST00000242819.4 ENST00000242819.5 ENST00000242819.6 NM_031290 Q6NSX1 Q8N7A8 Q9H097 uc001vfu.1 uc001vfu.2 uc001vfu.3 uc001vfu.4 uc001vfu.5 uc001vfu.6 uc001vfu.7 Secreted (Potential). It is uncertain whether Met-1 or Met-12 is the initiator. protein binding extracellular region plasma membrane uc001vfu.1 uc001vfu.2 uc001vfu.3 uc001vfu.4 uc001vfu.5 uc001vfu.6 uc001vfu.7 
ENST00000242827.11 EBPL ENST00000242827.11 Homo sapiens EBP like (EBPL), transcript variant 1, mRNA. (from RefSeq NM_032565) A6NJ59 EBPL_HUMAN EBRP ENST00000242827.1 ENST00000242827.10 ENST00000242827.2 ENST00000242827.3 ENST00000242827.4 ENST00000242827.5 ENST00000242827.6 ENST00000242827.7 ENST00000242827.8 ENST00000242827.9 ERP NM_032565 Q569H7 Q5JVN2 Q5JVN3 Q5JVN4 Q5JVN5 Q5JVN6 Q9BY08 uc001vdg.1 uc001vdg.2 uc001vdg.3 uc001vdg.4 uc001vdg.5 uc001vdg.6 Does not possess sterol isomerase activity and does not bind sigma ligands. Homodimer. Endoplasmic reticulum membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q9BY08-1; Sequence=Displayed; Name=2; IsoId=Q9BY08-2; Sequence=VSP_035418, VSP_035425; Note=No experimental confirmation available; Name=3; IsoId=Q9BY08-3; Sequence=VSP_035417, VSP_035422; Note=No experimental confirmation available; Name=4; IsoId=Q9BY08-4; Sequence=VSP_035419, VSP_035421; Note=No experimental confirmation available; Name=5; IsoId=Q9BY08-5; Sequence=VSP_035420, VSP_035423, VSP_035424; Note=No experimental confirmation available; Widely expressed with highest levels in liver, lung and kidney. Belongs to the EBP family. endoplasmic reticulum endoplasmic reticulum membrane membrane integral component of membrane sterol metabolic process cholestenol delta-isomerase activity uc001vdg.1 uc001vdg.2 uc001vdg.3 uc001vdg.4 uc001vdg.5 uc001vdg.6 
ENST00000242839.10 ATP7B ENST00000242839.10 Homo sapiens ATPase copper transporting beta (ATP7B), transcript variant 1, mRNA. (from RefSeq NM_000053) ATP7B_HUMAN ENST00000242839.1 ENST00000242839.2 ENST00000242839.3 ENST00000242839.4 ENST00000242839.5 ENST00000242839.6 ENST00000242839.7 ENST00000242839.8 ENST00000242839.9 NM_000053 P35670 PWD Q16318 Q16319 Q4U3V3 Q59FJ9 Q5T7X7 WC1 WND uc001vfw.1 uc001vfw.2 uc001vfw.3 uc001vfw.4 uc001vfw.5 This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein is a monomer, and functions as a copper-transporting ATPase which exports copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease which is characterized by copper accumulation. [provided by RefSeq, Dec 2019]. Involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile. ATP + H(2)O + Cu(2+)(In) = ADP + phosphate + Cu(2+)(Out). Monomer. Interacts with COMMD1/MURR1. Interacts with DCTN4, in a copper-dependent manner. Interacts with ATOX1. Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein (By similarity). Note=Predominantly found in the trans-Golgi network (TGN). Not redistributed to the plasma membrane in response to elevated copper levels. Isoform 2: Cytoplasm. WND/140 kDa: Mitochondrion. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=A; IsoId=P35670-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=P35670-2; Sequence=VSP_000426, VSP_000427; Name=3; IsoId=P35670-3; Sequence=VSP_016559; Name=4; IsoId=P35670-4; Sequence=VSP_016560; Note=No experimental confirmation available; Most abundant in liver and kidney and also found in brain. Isoform 2 is expressed in brain but not in liver. The cleaved form WND/140 kDa is found in liver cell lines and other tissues. Each HMA domain can bind a copper ion, they are tightly packed and closely interact with each other. Wild-type ATP7B can usually be loaded with an average 5.5 copper atoms per molecule. Isoform 1 may be proteolytically cleaved at the N-terminus to produce the WND/140 kDa form. Defects in ATP7B are the cause of Wilson disease (WD) [MIM:277900]. WD is an autosomal recessive disorder of copper metabolism in which copper cannot be incorporated into ceruloplasmin in liver, and cannot be excreted from the liver into the bile. Copper accumulates in the liver and subsequently in the brain and kidney. The disease is characterized by neurologic manifestations and signs of cirrhosis. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily. Contains 6 HMA domains. Sequence=AAA16173.1; Type=Frameshift; Positions=830; Sequence=AAA79211.1; Type=Frameshift; Positions=456; Sequence=AAA79212.1; Type=Frameshift; Positions=456; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP7B"; Name=Wilson Disease Mutation Database; URL="http://www.medicalgenetics.med.ualberta.ca/wilson/index.php"; Golgi membrane nucleotide binding copper ion transmembrane transporter activity copper ion binding protein binding ATP binding cytoplasm mitochondrion endosome late endosome Golgi apparatus trans-Golgi network integral component of plasma membrane ion transport cation transport copper ion transport cellular copper ion homeostasis cellular zinc ion homeostasis lactation copper ion import intracellular copper ion transport membrane integral component of membrane cation-transporting ATPase activity metal ion transport trans-Golgi network membrane ion transmembrane transport copper-transporting ATPase activity response to copper ion metal ion binding perinuclear region of cytoplasm sequestering of calcium ion copper ion export divalent inorganic cation transport basolateral plasma membrane cytoplasmic vesicle uc001vfw.1 uc001vfw.2 uc001vfw.3 uc001vfw.4 uc001vfw.5 
ENST00000242994.4 NEUROD4 ENST00000242994.4 Homo sapiens neuronal differentiation 4 (NEUROD4), mRNA. (from RefSeq NM_021191) ATH3 ATOH3 B2RAC9 BHLHA4 ENST00000242994.1 ENST00000242994.2 ENST00000242994.3 NDF4_HUMAN NM_021191 Q9HD90 uc001sgp.1 uc001sgp.2 uc001sgp.3 uc001sgp.4 uc001sgp.5 uc001sgp.6 Probably acts as a transcriptional activator. Mediates neuronal differentiation. Required for the regulation of amacrine cell fate specification in the retina (By similarity). Efficient DNA binding requires dimerization with another bHLH protein (By similarity). Nucleus (Potential). Serine or threonine phosphorylation within the basic region may regulate neurogenic activity (By similarity). Contains 1 bHLH (basic helix-loop-helix) domain. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding neuron migration DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter Notch signaling pathway multicellular organism development nervous system development neuroblast proliferation glial cell differentiation cell differentiation amacrine cell differentiation camera-type eye development cell fate commitment positive regulation of cell differentiation protein dimerization activity neuron development retina development in camera-type eye uc001sgp.1 uc001sgp.2 uc001sgp.3 uc001sgp.4 uc001sgp.5 uc001sgp.6 
ENST00000243045.10 ORMDL2 ENST00000243045.10 Homo sapiens ORMDL sphingolipid biosynthesis regulator 2 (ORMDL2), mRNA. (from RefSeq NM_014182) B2RA58 ENST00000243045.1 ENST00000243045.2 ENST00000243045.3 ENST00000243045.4 ENST00000243045.5 ENST00000243045.6 ENST00000243045.7 ENST00000243045.8 ENST00000243045.9 HSPC160 MSTP095 NM_014182 ORML2_HUMAN Q53FV1 Q7Z4E5 Q8NFX0 Q9P004 uc001shw.1 uc001shw.2 uc001shw.3 Negative regulator of sphingolipid synthesis. Endoplasmic reticulum membrane; Multi-pass membrane protein. Widely expressed. Expressed in adult and fetal heart, brain, lung, liver, skeletal muscle and kidney. Expressed in adult pancreas and placenta and in fetal spleen abd thymus. Belongs to the ORM family. endoplasmic reticulum endoplasmic reticulum membrane ceramide metabolic process membrane integral component of membrane SPOTS complex negative regulation of sphingolipid biosynthetic process cellular sphingolipid homeostasis negative regulation of ceramide biosynthetic process uc001shw.1 uc001shw.2 uc001shw.3 
ENST00000243050.5 NR4A1 ENST00000243050.5 Orphan nuclear receptor. May act concomitantly with NURR1 in regulating the expression of delayed-early genes during liver regeneration. Binds the NGFI-B response element (NBRE) 5'- AAAAGGTCA-3' (By similarity). May inhibit NF-kappa-B transactivation of IL2. (from UniProt P22736) B4DML7 BC016147 ENST00000243050.1 ENST00000243050.2 ENST00000243050.3 ENST00000243050.4 GFRP1 HMR NAK1 NR4A1_HUMAN P22736 uc001rzs.1 uc001rzs.2 uc001rzs.3 uc001rzs.4 Orphan nuclear receptor. May act concomitantly with NURR1 in regulating the expression of delayed-early genes during liver regeneration. Binds the NGFI-B response element (NBRE) 5'- AAAAGGTCA-3' (By similarity). May inhibit NF-kappa-B transactivation of IL2. Binds DNA as a monomer (By similarity). Interacts with GADD45GIP1. Q9P2G1:ANKIB1; NbExp=2; IntAct=EBI-721550, EBI-2687890; P10415:BCL2; NbExp=7; IntAct=EBI-721550, EBI-77694; O60888:CUTA; NbExp=2; IntAct=EBI-721550, EBI-1051556; P32189:GK; NbExp=3; IntAct=EBI-721550, EBI-3926629; P43243:MATR3; NbExp=2; IntAct=EBI-721550, EBI-352602; P40763:STAT3; NbExp=3; IntAct=EBI-721550, EBI-518675; P04350:TUBB4A; NbExp=2; IntAct=EBI-721550, EBI-355007; P50552:VASP; NbExp=2; IntAct=EBI-721550, EBI-748201; Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P22736-1; Sequence=Displayed; Name=2; IsoId=P22736-2; Sequence=VSP_043086; Note=No experimental confirmation available; Fetal muscle and adult liver, brain and thyroid. By growth-stimulating agents. Phosphorylated at Ser-351 by RPS6KA1 and RPS6KA3 in response to mitogenic or stress stimuli. Belongs to the nuclear hormone receptor family. NR4 subfamily. Contains 1 nuclear receptor DNA-binding domain. nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding positive regulation of endothelial cell proliferation cell migration involved in sprouting angiogenesis DNA binding transcription factor activity, sequence-specific DNA binding steroid hormone receptor activity RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding protein binding nucleus nucleoplasm transcription factor complex cytoplasm mitochondrion cytosol regulation of transcription, DNA-templated transcription initiation from RNA polymerase II promoter signal transduction zinc ion binding intracellular receptor signaling pathway nuclear membrane glucocorticoid receptor binding endothelial cell chemotaxis cellular response to vascular endothelial growth factor stimulus steroid hormone mediated signaling pathway sequence-specific DNA binding cellular response to fibroblast growth factor stimulus fat cell differentiation negative regulation of cell cycle positive regulation of transcription from RNA polymerase II promoter metal ion binding protein heterodimerization activity regulation of type B pancreatic cell proliferation cellular response to corticotropin-releasing hormone stimulus uc001rzs.1 uc001rzs.2 uc001rzs.3 uc001rzs.4 
ENST00000243056.5 HOXC13 ENST00000243056.5 Homo sapiens homeobox C13 (HOXC13), mRNA. (from RefSeq NM_017410) ENST00000243056.1 ENST00000243056.2 ENST00000243056.3 ENST00000243056.4 HOX3G HXC13_HUMAN NM_017410 P31276 Q5BL02 Q96J32 Q9NR24 Q9NYD5 uc001sei.1 uc001sei.2 uc001sei.3 uc001sei.4 uc001sei.5 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the development of hair, nail, and filiform papilla. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC090850.1, SRR5189658.196826.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145893, SAMEA2147596 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243056.5/ ENSP00000243056.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcription factor which plays a role in hair follicle differentiation. Regulates FOXQ1 expression and that of other hair-specific genes (By similarity). P32519:ELF1; NbExp=3; IntAct=EBI-2293590, EBI-765526; Nucleus. Belongs to the Abd-B homeobox family. Contains 1 homeobox DNA-binding domain. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding hair follicle development DNA binding chromatin binding protein binding nucleus regulation of transcription, DNA-templated multicellular organism development anatomical structure morphogenesis anterior/posterior pattern specification nail development sequence-specific DNA binding tongue morphogenesis positive regulation of transcription from RNA polymerase II promoter uc001sei.1 uc001sei.2 uc001sei.3 uc001sei.4 uc001sei.5 
ENST00000243077.8 LRP1 ENST00000243077.8 Homo sapiens LDL receptor related protein 1 (LRP1), mRNA. (from RefSeq NM_002332) A2MR APR ENST00000243077.1 ENST00000243077.2 ENST00000243077.3 ENST00000243077.4 ENST00000243077.5 ENST00000243077.6 ENST00000243077.7 LRP1_HUMAN NM_002332 Q07954 Q2PP12 Q8IVG8 uc001snd.1 uc001snd.2 uc001snd.3 uc001snd.4 uc001snd.5 This gene encodes a member of the low-density lipoprotein receptor family of proteins. The encoded preproprotein is proteolytically processed by furin to generate 515 kDa and 85 kDa subunits that form the mature receptor (PMID: 8546712). This receptor is involved in several cellular processes, including intracellular signaling, lipid homeostasis, and clearance of apoptotic cells. In addition, the encoded protein is necessary for the alpha 2-macroglobulin-mediated clearance of secreted amyloid precursor protein and beta-amyloid, the main component of amyloid plaques found in Alzheimer patients. Expression of this gene decreases with age and has been found to be lower than controls in brain tissue from Alzheimer's disease patients. [provided by RefSeq, Oct 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X13916.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243077.8/ ENSP00000243077.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Endocytic receptor involved in endocytosis and in phagocytosis of apoptotic cells. Required for early embryonic development. Involved in cellular lipid homeostasis. Involved in the plasma clearance of chylomicron remnants and activated LRPAP1 (alpha 2-macroglobulin), as well as the local metabolism of complexes between plasminogen activators and their endogenous inhibitors. May modulate cellular events, such as APP metabolism, kinase-dependent intracellular signaling, neuronal calcium signaling as well as neurotransmission. Functions as a receptor for Pseudomonas aeruginosa exotoxin A. Heterodimer of an 85-kDa membrane-bound carboxyl subunit and a non-covalently attached 515-kDa N-terminal subunit. Intracellular domain interacts with MAFB (By similarity). Found in a complex with PID1/PCLI1, LRP1 and CUBNI. Interacts with SNX17, PID1/PCLI1, PDGF and CUBN. The intracellular domain interacts with SHC1, GULP1 and DAB1. Interacts with LRPAP1. Can weakly interact (via NPXY motif) with DAB2 (via PID domain); the interaction is enhanced by tyrosine phosphorylation of the NPXY motif. Interacts with bacterial exotoxins. Q63722:Jag1 (xeno); NbExp=4; IntAct=EBI-1046087, EBI-4567800; Q03350:Thbs2 (xeno); NbExp=2; IntAct=EBI-1046087, EBI-4567830; Low-density lipoprotein receptor-related protein 1 85 kDa subunit: Cell membrane; Single-pass type I membrane protein. Membrane, coated pit. Low-density lipoprotein receptor-related protein 1 515 kDa subunit: Cell membrane; Peripheral membrane protein; Extracellular side. Membrane, coated pit. Low-density lipoprotein receptor-related protein 1 intracellular domain: Cytoplasm. Nucleus. Note=After cleavage, the intracellular domain (LRPICD) is detected both in the cytoplasm and in the nucleus. Most abundant in liver, brain and lung. Cleaved into a 85 kDa membrane-spanning subunit (LRP-85) and a 515 kDa large extracellular domain (LRP-515) that remains non- covalently associated. Gamma-secretase-dependent cleavage of LRP- 85 releases the intracellular domain from the membrane. The N-terminus is blocked. Phosphorylated on serine and threonine residues. Phosphorylated on tyrosine residues upon stimulation with PDGF. Tyrosine phosphorylation promotes interaction with SHC1. Belongs to the LDLR family. Contains 22 EGF-like domains. Contains 31 LDL-receptor class A domains. Contains 34 LDL-receptor class B repeats. retinoid metabolic process beta-amyloid binding protease binding astrocyte activation involved in immune response RNA binding low-density lipoprotein receptor activity scavenger receptor activity calcium ion binding protein binding nucleus cytoplasm lysosomal membrane endosome early endosome plasma membrane integral component of plasma membrane clathrin-coated pit focal adhesion lipid metabolic process endocytosis receptor-mediated endocytosis phagocytosis lysosomal transport positive regulation of cytosolic calcium ion concentration protein kinase C-activating G-protein coupled receptor signaling pathway multicellular organism development aging cell proliferation regulation of extracellular matrix disassembly negative regulation of cell-substrate adhesion positive regulation of cholesterol efflux positive regulation of cell death positive regulation of neuron projection development negative regulation of neuron projection development negative regulation of smooth muscle cell migration coreceptor activity membrane integral component of membrane basolateral plasma membrane alpha-2 macroglobulin receptor activity cerebral cortex development clathrin-coated vesicle negative regulation of Wnt signaling pathway apolipoprotein receptor activity dendrite endocytic vesicle membrane receptor internalization clathrin heavy chain binding positive regulation of protein binding positive regulation of lipid transport regulation of cholesterol transport regulation of phospholipase A2 activity insulin-responsive compartment regulation of actin cytoskeleton organization apolipoprotein binding positive regulation of insulin secretion involved in cellular response to glucose stimulus aorta morphogenesis signaling receptor activity cargo receptor activity lipoprotein metabolic process lipoprotein transport neuronal cell body negative regulation of apoptotic process receptor complex apoptotic cell clearance heparan sulfate proteoglycan binding negative regulation of neuron apoptotic process cellular lipid catabolic process axonal growth cone macromolecular complex binding transcytosis apical part of cell positive regulation of axon extension positive regulation of endocytosis metal ion binding positive regulation of axon extension involved in regeneration positive regulation of collateral sprouting of injured axon positive regulation of phagocytosis positive regulation of protein transport negative regulation of cytosolic calcium ion concentration negative regulation of focal adhesion assembly negative regulation of cell death chemoattraction of axon lipoprotein particle receptor binding positive regulation of ERK1 and ERK2 cascade beta-amyloid clearance plasma membrane protein complex positive regulation of Schwann cell migration positive regulation of beta-amyloid clearance positive regulation of protein localization to plasma membrane positive regulation of cholesterol import positive regulation of chemokine (C-C motif) ligand 2 secretion cellular response to beta-amyloid positive regulation of vascular associated smooth muscle cell migration negative regulation of metallopeptidase activity positive regulation of lysosomal protein catabolic process negative regulation of platelet-derived growth factor receptor-beta signaling pathway uc001snd.1 uc001snd.2 uc001snd.3 uc001snd.4 uc001snd.5 
ENST00000243103.4 HOXC12 ENST00000243103.4 Homo sapiens homeobox C12 (HOXC12), mRNA. (from RefSeq NM_173860) ENST00000243103.1 ENST00000243103.2 ENST00000243103.3 HOC3F HOX3F HXC12_HUMAN NM_173860 P31275 Q9BXJ6 uc010soq.1 uc010soq.2 uc010soq.3 uc010soq.4 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA2145893, SAMEA2467146 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243103.4/ ENSP00000243103.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Belongs to the Abd-B homeobox family. Contains 1 homeobox DNA-binding domain. RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development sequence-specific DNA binding uc010soq.1 uc010soq.2 uc010soq.3 uc010soq.4 
ENST00000243108.5 HOXC6 ENST00000243108.5 Homo sapiens homeobox C6 (HOXC6), transcript variant 1, mRNA. (from RefSeq NM_004503) B2RBV2 ENST00000243108.1 ENST00000243108.2 ENST00000243108.3 ENST00000243108.4 HOX3C HXC6_HUMAN NM_004503 P09630 Q6DK09 uc001sev.1 uc001sev.2 uc001sev.3 uc001sev.4 uc001sev.5 This gene belongs to the homeobox family, members of which encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC6, is one of several HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Alternatively spliced transcript variants encoding different isoforms have been identified for HOXC6. Transcript variant two includes the shared exon, and transcript variant one includes only gene-specific exons. [provided by RefSeq, Jul 2008]. Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P09630-1; Sequence=Displayed; Name=2; IsoId=P09630-2; Sequence=VSP_002392; Belongs to the Antp homeobox family. Contains 1 homeobox DNA-binding domain. nuclear chromatin RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding transcription corepressor activity nucleus nucleoplasm cytosol regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development anterior/posterior pattern specification sequence-specific DNA binding embryonic skeletal system development negative regulation of nucleic acid-templated transcription uc001sev.1 uc001sev.2 uc001sev.3 uc001sev.4 uc001sev.5 
ENST00000243167.9 FAAH ENST00000243167.9 Homo sapiens fatty acid amide hydrolase (FAAH), mRNA. (from RefSeq NM_001441) D3DQ19 ENST00000243167.1 ENST00000243167.2 ENST00000243167.3 ENST00000243167.4 ENST00000243167.5 ENST00000243167.6 ENST00000243167.7 ENST00000243167.8 FAAH1 FAAH1_HUMAN NM_001441 O00519 Q52M86 Q5TDF8 uc001cpu.1 uc001cpu.2 uc001cpu.3 uc001cpu.4 This gene encodes a protein that is responsible for the hydrolysis of a number of primary and secondary fatty acid amides, including the neuromodulatory compounds anandamide and oleamide. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U82535.1, SRR1803614.46089.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243167.9/ ENSP00000243167.8 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Degrades bioactive fatty acid amides like oleamide, the endogenous cannabinoid, anandamide and myristic amide to their corresponding acids, thereby serving to terminate the signaling functions of these molecules. Hydrolyzes polyunsaturated substrate anandamide preferentially as compared to monounsaturated substrates. Anandamide + H(2)O = arachidonic acid + ethanolamine. Oleamide + H(2)O = oleic acid + NH(3). Inhibited by O-aryl carbamates and alpha-keto heterocytes. Homodimer (By similarity). Endomembrane system; Single-pass membrane protein. Cytoplasm, cytoskeleton. Note=Seems to be attached to intracellular membranes and a portion of the cytoskeletal network. Highly expressed in the brain, small intestine, pancreas, skeletal muscle and testis. Also expressed in the kidney, liver, lung, placenta and prostate. Variant Thr-129 seems to be strongly associated with illegal drug use and dependence. This variant displays normal catalytic properties but an enhanced sensitivity to proteolytic degradation. Belongs to the amidase family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/faah/"; amidase activity protein binding cytoplasm endoplasmic reticulum membrane cytoskeleton fatty acid catabolic process endomembrane system membrane integral component of membrane hydrolase activity fatty acid amide hydrolase activity arachidonic acid metabolic process organelle membrane acylglycerol lipase activity monoacylglycerol catabolic process oleamide hydrolase activity anandamide amidohydrolase activity uc001cpu.1 uc001cpu.2 uc001cpu.3 uc001cpu.4 
ENST00000243189.12 RSRP1 ENST00000243189.12 Homo sapiens arginine and serine rich protein 1 (RSRP1), transcript variant 2, mRNA. (from RefSeq NM_020317) A8K917 C1orf63 CA063_HUMAN ENST00000243189.1 ENST00000243189.10 ENST00000243189.11 ENST00000243189.2 ENST00000243189.3 ENST00000243189.4 ENST00000243189.5 ENST00000243189.6 ENST00000243189.7 ENST00000243189.8 ENST00000243189.9 HT033 NM_020317 NPD014 Q49AA4 Q5TH71 Q9BUV0 Q9GZP6 uc001bjw.1 uc001bjw.2 uc001bjw.3 uc001bjw.4 uc001bjw.5 Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9BUV0-1; Sequence=Displayed; Note=No experimental confirmation available; Name=2; IsoId=Q9BUV0-2; Sequence=VSP_027305; Name=3; IsoId=Q9BUV0-3; Sequence=VSP_027306, VSP_027307; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Belongs to the UPF0471 family. protein binding uc001bjw.1 uc001bjw.2 uc001bjw.3 uc001bjw.4 uc001bjw.5 
ENST00000243253.8 SEC61A1 ENST00000243253.8 Homo sapiens SEC61 translocon subunit alpha 1 (SEC61A1), mRNA. (from RefSeq NM_013336) ENST00000243253.1 ENST00000243253.2 ENST00000243253.3 ENST00000243253.4 ENST00000243253.5 ENST00000243253.6 ENST00000243253.7 NM_013336 P38378 P57726 P61619 Q5JPF8 Q8N0Z4 Q8N3U3 Q8NC71 Q9BU16 Q9Y2R3 S61A1_HUMAN SEC61A uc003ekb.1 uc003ekb.2 uc003ekb.3 uc003ekb.4 uc003ekb.5 The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AL832821.1, AK027423.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243253.8/ ENSP00000243253.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays a crucial role in the insertion of secretory and membrane polypeptides into the ER. Required for assembly of membrane and secretory proteins. Tightly associated with membrane- bound ribosomes, either directly or through adapter proteins. Heterotrimeric complex composed of SEC61-alpha, SEC61- beta and SEC61-gamma. Endoplasmic reticulum membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P61619-1; Sequence=Displayed; Name=3; IsoId=P61619-3; Sequence=VSP_013747; Note=No experimental confirmation available; Belongs to the SecY/SEC61-alpha family. Sequence=BAC11283.1; Type=Erroneous initiation; Sequence=BAC11434.1; Type=Erroneous initiation; signal sequence binding calcium channel activity protein binding endoplasmic reticulum Sec61 translocon complex endoplasmic reticulum membrane rough endoplasmic reticulum cytosol cotranslational protein targeting to membrane SRP-dependent cotranslational protein targeting to membrane SRP-dependent cotranslational protein targeting to membrane, translocation posttranslational protein targeting to membrane endoplasmic reticulum organization protein transmembrane transporter activity protein transport membrane integral component of membrane integral component of endoplasmic reticulum membrane posttranslational protein targeting to membrane, translocation response to interferon-gamma pronephric nephron development ribosome binding protein targeting to ER calcium ion transmembrane transport uc003ekb.1 uc003ekb.2 uc003ekb.3 uc003ekb.4 uc003ekb.5 
ENST00000243298.3 RAB9B ENST00000243298.3 Homo sapiens RAB9B, member RAS oncogene family (RAB9B), transcript variant 1, mRNA. (from RefSeq NM_016370) B2R8M0 ENST00000243298.1 ENST00000243298.2 NM_016370 Q52LX2 Q9NP90 RAB9B_HUMAN RAB9L uc004ell.1 uc004ell.2 uc004ell.3 uc004ell.4 This gene encodes a member of a subfamily of RAS small guanosine triphosphate (GTP)-binding proteins that regulate membrane trafficking. The encoded protein may be involved in endosome-to-Golgi transport. [provided by RefSeq, Jan 2010]. Involved in the transport of proteins between the endosomes and the trans Golgi network (By similarity). Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Ubiquitous. Belongs to the small GTPase superfamily. Rab family. nucleotide binding GTPase activity protein binding GTP binding lysosome late endosome cytosol plasma membrane intracellular protein transport protein transport membrane GDP binding secretory granule membrane phagocytic vesicle membrane cytoplasmic vesicle Rab protein signal transduction retrograde transport, endosome to Golgi identical protein binding neutrophil degranulation phagocytic vesicle uc004ell.1 uc004ell.2 uc004ell.3 uc004ell.4 
ENST00000243300.14 NRK ENST00000243300.14 Homo sapiens Nik related kinase (NRK), mRNA. (from RefSeq NM_198465) ENST00000243300.1 ENST00000243300.10 ENST00000243300.11 ENST00000243300.12 ENST00000243300.13 ENST00000243300.2 ENST00000243300.3 ENST00000243300.4 ENST00000243300.5 ENST00000243300.6 ENST00000243300.7 ENST00000243300.8 ENST00000243300.9 NM_198465 NRK_HUMAN Q32ND6 Q5H9K2 Q6ZMP2 Q7Z2Y5 uc065ans.1 uc065ans.2 The mouse ortholog of this gene encodes a protein kinase required for JNK activation. The encoded protein may be involved in the induction of actin polymerization in late embryogenesis.[provided by RefSeq, Jun 2010]. ##Evidence-Data-START## Transcript exon combination :: BX538345.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2142853 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243300.14/ ENSP00000434830.1 RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## May phosphorylate cofilin-1 and induce actin polymerization through this process, during the late stages of embryogenesis. Involved in the TNF-alpha-induced signaling pathway (By similarity). ATP + a protein = ADP + a phosphoprotein. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q7Z2Y5-1; Sequence=Displayed; Name=2; IsoId=Q7Z2Y5-2; Sequence=VSP_020654, VSP_020657; Note=No experimental confirmation available; Name=3; IsoId=Q7Z2Y5-3; Sequence=VSP_020655, VSP_020656; Note=No experimental confirmation available; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. Contains 1 CNH domain. Contains 1 protein kinase domain. nucleotide binding protein kinase activity protein serine/threonine kinase activity ATP binding cytoplasm protein phosphorylation activation of JNKK activity parturition negative regulation of cell proliferation kinase activity phosphorylation transferase activity signal transduction by protein phosphorylation actin cytoskeleton reorganization activation of protein kinase activity neuron projection morphogenesis regulation of spongiotrophoblast cell proliferation uc065ans.1 uc065ans.2 
ENST00000243314.5 MAGEA9 ENST00000243314.5 Homo sapiens MAGE family member A9 (MAGEA9), mRNA. (from RefSeq NM_005365) A8K8A7 ENST00000243314.1 ENST00000243314.2 ENST00000243314.3 ENST00000243314.4 MAGA9_HUMAN MAGE9 MAGEA9A MAGEA9B NM_005365 P43362 Q7Z5K4 Q92910 uc004fdv.1 uc004fdv.2 uc004fdv.3 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC002351.2, DB019591.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression. Expressed in many tumors of several types, such as melanoma, head and neck squamous cell carcinoma, lung carcinoma and breast carcinoma, but not in normal tissues except for testes and placenta. Contains 1 MAGE domain. molecular_function protein binding cellular_component biological_process uc004fdv.1 uc004fdv.2 uc004fdv.3 
ENST00000243346.10 NMI ENST00000243346.10 Homo sapiens N-myc and STAT interactor (NMI), mRNA. (from RefSeq NM_004688) B5BU69 ENST00000243346.1 ENST00000243346.2 ENST00000243346.3 ENST00000243346.4 ENST00000243346.5 ENST00000243346.6 ENST00000243346.7 ENST00000243346.8 ENST00000243346.9 NMI_HUMAN NM_004688 Q13287 Q53TI8 Q9BVE5 uc002txi.1 uc002txi.2 uc002txi.3 uc002txi.4 NMYC interactor (NMI) encodes a protein that interacts with NMYC and CMYC (two members of the oncogene Myc family), and other transcription factors containing a Zip, HLH, or HLH-Zip motif. The NMI protein also interacts with all STATs except STAT2 and augments STAT-mediated transcription in response to cytokines IL2 and IFN-gamma. The NMI mRNA has low expression levels in all human fetal and adult tissues tested except brain and has high expression in cancer cell line-myeloid leukemias. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.255715.1, SRR1163658.315184.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243346.10/ ENSP00000243346.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## May be involved in augmenting coactivator protein recruitment to a group of sequence-specific transcription factors. Augments cytokine-mediated STAT transcription. Enhances CBP/p300 coactivator protein recruitment to STAT1 and STAT5. Interacts with MYCN and MYC, as well as with other transcription factors with a Zip, HLH or a HLH-Zip motif. Interacts with all STAT proteins except STAT2. Q9HCU9:BRMS1; NbExp=2; IntAct=EBI-372942, EBI-714781; Q9XRX5:HHLA3; NbExp=2; IntAct=EBI-372942, EBI-750554; P04198:MYCN; NbExp=3; IntAct=EBI-372942, EBI-878369; P56693:SOX10; NbExp=2; IntAct=EBI-372942, EBI-1167533; O55170:Sox10 (xeno); NbExp=4; IntAct=EBI-372942, EBI-1185693; P51692:STAT5B; NbExp=7; IntAct=EBI-372942, EBI-1186119; Q13748:TUBA3D; NbExp=2; IntAct=EBI-372942, EBI-355068; Cytoplasm. Expressed in all adult and fetal tissues except brain and skin. More abundant in fetal tissues especially liver. By IL2/interleukin-2 and IFNG/IFN-gamma. Belongs to the NMI family. transcription cofactor activity protein binding nucleoplasm cytoplasm cytosol transcription from RNA polymerase II promoter inflammatory response JAK-STAT cascade negative regulation of type I interferon production identical protein binding negative regulation of interferon-alpha biosynthetic process negative regulation of interferon-beta biosynthetic process negative regulation of innate immune response interferon-gamma-mediated signaling pathway positive regulation of protein K48-linked ubiquitination regulation of nucleic acid-templated transcription uc002txi.1 uc002txi.2 uc002txi.3 uc002txi.4 
ENST00000243347.5 TNFAIP6 ENST00000243347.5 Homo sapiens TNF alpha induced protein 6 (TNFAIP6), mRNA. (from RefSeq NM_007115) ENST00000243347.1 ENST00000243347.2 ENST00000243347.3 ENST00000243347.4 NM_007115 P98066 Q53TI7 Q8WWI9 TSG6 TSG6_HUMAN uc002txk.1 uc002txk.2 uc002txk.3 uc002txk.4 The protein encoded by this gene is a secretory protein that contains a hyaluronan-binding domain, and thus is a member of the hyaluronan-binding protein family. The hyaluronan-binding domain is known to be involved in extracellular matrix stability and cell migration. This protein has been shown to form a stable complex with inter-alpha-inhibitor (I alpha I), and thus enhance the serine protease inhibitory activity of I alpha I, which is important in the protease network associated with inflammation. This gene can be induced by proinflammatory cytokines such as tumor necrosis factor alpha and interleukin-1. Enhanced levels of this protein are found in the synovial fluid of patients with osteoarthritis and rheumatoid arthritis.[provided by RefSeq, Dec 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189655.73644.1, SRR5189652.124369.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243347.5/ ENSP00000243347.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Possibly involved in cell-cell and cell-matrix interactions during inflammation and tumorigenesis. Interacts with inter-alpha-inhibitor (I-alpha-I). Chondroitin sulfate may be required for the stability of the complex. Found in the synovial fluid of patients with rheumatoid arthritis. By TNF. Contains 1 CUB domain. Contains 1 Link domain. protein binding hyaluronic acid binding extracellular region extracellular space inflammatory response cell adhesion signal transduction cell-cell signaling positive regulation of cell migration ovulation neutrophil degranulation negative regulation of inflammatory response tertiary granule lumen ficolin-1-rich granule lumen uc002txk.1 uc002txk.2 uc002txk.3 uc002txk.4 
ENST00000243349.13 ACVR1C ENST00000243349.13 Homo sapiens activin A receptor type 1C (ACVR1C), transcript variant 1, mRNA. (from RefSeq NM_145259) ACV1C_HUMAN ALK7 ENST00000243349.1 ENST00000243349.10 ENST00000243349.11 ENST00000243349.12 ENST00000243349.2 ENST00000243349.3 ENST00000243349.4 ENST00000243349.5 ENST00000243349.6 ENST00000243349.7 ENST00000243349.8 ENST00000243349.9 NM_145259 Q4ZFZ8 Q86UL1 Q86UL2 Q8NER5 Q8TBG2 uc002tzk.1 uc002tzk.2 uc002tzk.3 uc002tzk.4 uc002tzk.5 uc002tzk.6 ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008]. Serine/threonine protein kinase which forms a receptor complex on ligand binding. The receptor complex consisting of 2 type II and 2 type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators, SMAD2 and SMAD3. Receptor for activin AB, activin B and NODAL. Plays a role in cell differentiation, growth arrest and apoptosis. ATP + [receptor-protein] = ADP + [receptor- protein] phosphate. Magnesium or manganese. Binds the type 2 receptor protein ACVR2A (By similarity). Membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q8NER5-1; Sequence=Displayed; Name=2; Synonyms=B, soluble B; IsoId=Q8NER5-2; Sequence=VSP_051841; Name=3; Synonyms=A, soluble A; IsoId=Q8NER5-3; Sequence=VSP_051842; Name=4; Synonyms=Truncated; IsoId=Q8NER5-4; Sequence=VSP_051840; Present in pancreas, heart, colon, small intestine, ovary and the hippocampus, medulla oblongata and putamen of the brain. Isoform 1, isoform 2, isoform 3 and isoform 4 are all expressed in the placenta throughout pregnancy. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. Contains 1 GS domain. Contains 1 protein kinase domain. nucleotide binding response to dietary excess protein kinase activity protein serine/threonine kinase activity transmembrane receptor protein serine/threonine kinase activity transforming growth factor beta-activated receptor activity transforming growth factor beta receptor activity, type I ATP binding plasma membrane integral component of plasma membrane protein phosphorylation apoptotic process transmembrane receptor protein serine/threonine kinase signaling pathway transforming growth factor beta receptor signaling pathway pattern specification process response to glucose membrane integral component of membrane kinase activity phosphorylation activin receptor activity, type I transferase activity growth factor binding lipid storage cell differentiation apoptotic nuclear changes response to insulin activin receptor signaling pathway nodal signaling pathway nodal binding receptor complex positive regulation of cysteine-type endopeptidase activity involved in apoptotic process SMAD binding negative regulation of insulin secretion metal ion binding activin receptor complex activin binding negative regulation of trophoblast cell migration negative regulation of chorionic trophoblast cell proliferation uc002tzk.1 uc002tzk.2 uc002tzk.3 uc002tzk.4 uc002tzk.5 uc002tzk.6 
ENST00000243440.2 BATF3 ENST00000243440.2 Homo sapiens basic leucine zipper ATF-like transcription factor 3 (BATF3), mRNA. (from RefSeq NM_018664) BATF3_HUMAN ENST00000243440.1 NM_018664 Q9NR55 SNFT uc001hjl.1 uc001hjl.2 uc001hjl.3 uc001hjl.4 This gene encodes a member of the basic leucine zipper protein family. The encoded protein functions as a transcriptional repressor when heterodimerizing with JUN. The protein may play a role in repression of interleukin-2 and matrix metalloproteinase-1 transcription.[provided by RefSeq, Feb 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.579318.1, AF255346.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2149004, SAMN03465406 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243440.2/ ENSP00000243440.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## AP-1 family transcription factor that controls the differentiation of CD8(+) thymic conventional dendritic cells in the immune system. Required for development of CD8-alpha(+) classical dendritic cells (cDCs) and related CD103(+) dendritic cells that cross-present antigens to CD8 T-cells and produce interleukin-12 (IL12) in response to pathogens (By similarity). Acts via the formation of a heterodimer with JUN family proteins that recognizes and binds DNA sequence 5'-TGA[CG]TCA-3' and regulates expression of target genes. Heterodimer; heterodimerizes with JUN family proteins. Interacts with JUN. Nucleus. Belongs to the bZIP family. Contains 1 bZIP (basic-leucine zipper) domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding transcription corepressor activity protein binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter response to virus myeloid dendritic cell differentiation dendritic cell differentiation uc001hjl.1 uc001hjl.2 uc001hjl.3 uc001hjl.4 
ENST00000243457.4 KCNJ2 ENST00000243457.4 Homo sapiens potassium inwardly rectifying channel subfamily J member 2 (KCNJ2), mRNA. (from RefSeq NM_000891) ENST00000243457.1 ENST00000243457.2 ENST00000243457.3 IRK1 IRK2_HUMAN NM_000891 O15110 P48049 P63252 uc002jir.1 uc002jir.2 uc002jir.3 uc002jir.4 uc002jir.5 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF153820.1, U12507.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243457.4/ ENSP00000243457.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium or cesium. Homomultimeric and heteromultimeric association with Kir2.3, resulting in an enhanced G-protein-induced current. Association, via its PDZ-recognition domain, with LIN7A, LIN7B, LIN7C, DLG1, CASK and APBA1 plays a key role in its localization and trafficking (By similarity). Membrane; Multi-pass membrane protein. Heart, brain, placenta, lung, skeletal muscle, and kidney. Diffusely distributed throughout the brain. Defects in KCNJ2 are the cause of long QT syndrome type 7 (LQT7) [MIM:170390]; also called Andersen syndrome or Andersen cardiodysrhythmic periodic paralysis. Long QT syndromes are heart disorders characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to excercise or emotional stress. LQT7 manifests itself as a clinical triad consisting of potassium-sensitive periodic paralysis, ventricular ectopy and dysmorphic features. Defects in KCNJ2 are the cause of short QT syndrome type 3 (SQT3) [MIM:609622]. Short QT syndromes are heart disorders characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. They cause syncope and sudden death. SQT3 has a unique ECG phenotype characterized by asymmetrical T waves. Defects in KCNJ2 are the cause of familial atrial fibrillation type 9 (ATFB9) [MIM:613980]. ATFB9 is a familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ2 subfamily. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KCNJ2"; inward rectifier potassium channel activity voltage-gated ion channel activity phosphatidylinositol-4,5-bisphosphate binding smooth endoplasmic reticulum rough endoplasmic reticulum Golgi apparatus plasma membrane integral component of plasma membrane ion transport potassium ion transport voltage-gated potassium channel complex intercalated disc regulation of skeletal muscle contraction via regulation of action potential magnesium ion transport membrane integral component of membrane cellular potassium ion homeostasis T-tubule dendrite intrinsic component of membrane regulation of ion transmembrane transport identical protein binding neuronal cell body dendritic spine protein homotetramerization relaxation of cardiac muscle regulation of resting membrane potential regulation of membrane repolarization cardiac conduction cellular response to mechanical stimulus potassium ion transmembrane transport cardiac muscle cell action potential cardiac muscle cell action potential involved in contraction regulation of cardiac muscle cell contraction voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization membrane repolarization during action potential membrane depolarization during cardiac muscle cell action potential membrane repolarization during cardiac muscle cell action potential regulation of heart rate by cardiac conduction relaxation of skeletal muscle positive regulation of potassium ion transmembrane transport potassium ion import across plasma membrane uc002jir.1 uc002jir.2 uc002jir.3 uc002jir.4 uc002jir.5 
ENST00000243498.10 EXOSC9 ENST00000243498.10 Homo sapiens exosome component 9 (EXOSC9), transcript variant 2, mRNA. (from RefSeq NM_005033) ENST00000243498.1 ENST00000243498.2 ENST00000243498.3 ENST00000243498.4 ENST00000243498.5 ENST00000243498.6 ENST00000243498.7 ENST00000243498.8 ENST00000243498.9 EXOS9_HUMAN NM_005033 PMSCL1 Q06265 Q12883 Q4W5P5 Q86Y41 Q86Y48 uc003iea.1 uc003iea.2 uc003iea.3 uc003iea.4 uc003iea.5 This gene encodes a component of the human exosome, a exoribonuclease complex which processes and degrades RNA in the nucleus and cytoplasm. This component may play a role in mRNA degradation and the polymyositis/scleroderma autoantigen complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]. Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC9 binds to ARE-containing RNAs. Component of the RNA exosome complex. Specifically part of the catalytically inactive RNA exosome core (Exo-9) complex which is believed to associate with catalytic subunits EXOSC10, and DIS3 or DIS3L in cytoplasmic- and nuclear-specific RNA exosome complex forms. Exo-9 is formed by a hexameric ring of RNase PH domain-containing subunits specifically containing the heterodimers EXOSC4-EXOSC9, EXOSC5-EXOSC8 and EXOSC6-EXOSC7, and peripheral S1 domain-containing components EXOSC1, EXOSC2 and EXOSC3 located on the top of the ring structure. Cytoplasm. Nucleus, nucleolus. Isoform 1: Nucleus, nucleolus. Isoform 2: Nucleus, nucleolus. Isoform 3: Nucleus. Note=Excluded from the nucleolus. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=PM/SCL-75c-alpha; IsoId=Q06265-1; Sequence=Displayed; Name=2; Synonyms=PM/SCL-75c-beta; IsoId=Q06265-2; Sequence=VSP_025556; Name=3; Synonyms=PM/SCL-75a-alpha; IsoId=Q06265-3; Sequence=VSP_025555; Name=4; Synonyms=PM/SCL-75a-beta; IsoId=Q06265-4; Sequence=VSP_025555, VSP_025556; Belongs to the RNase PH family. The six exosome core subunits containing a RNase PH- domain are not phosphorolytically active. 3'-5'-exoribonuclease activity nuclear exosome (RNase complex) cytoplasmic exosome (RNase complex) exosome (RNase complex) nuclear chromosome exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) nuclear-transcribed mRNA catabolic process RNA polymerase II activating transcription factor binding RNA binding protein binding nucleus nucleoplasm nucleolus cytoplasm cytosol rRNA processing RNA processing immune response rRNA catabolic process positive regulation of cell growth nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' U1 snRNA 3'-end processing U4 snRNA 3'-end processing U5 snRNA 3'-end processing mRNA 3'-UTR AU-rich region binding regulation of mRNA stability exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay positive regulation of transcription from RNA polymerase II promoter extracellular exosome nuclear mRNA surveillance nuclear polyadenylation-dependent rRNA catabolic process nuclear polyadenylation-dependent tRNA catabolic process nuclear polyadenylation-dependent mRNA catabolic process exoribonuclease activity uc003iea.1 uc003iea.2 uc003iea.3 uc003iea.4 uc003iea.5 
ENST00000243501.10 PLA2G12A ENST00000243501.10 Homo sapiens phospholipase A2 group XIIA (PLA2G12A), mRNA. (from RefSeq NM_030821) ENST00000243501.1 ENST00000243501.2 ENST00000243501.3 ENST00000243501.4 ENST00000243501.5 ENST00000243501.6 ENST00000243501.7 ENST00000243501.8 ENST00000243501.9 FKSG38 NM_030821 PG12A_HUMAN PLA2G12 Q9BZ89 Q9BZM1 UNQ2519/PRO6012 uc003hzp.1 uc003hzp.2 uc003hzp.3 uc003hzp.4 uc003hzp.5 Secreted phospholipase A2 (sPLA2) enzymes liberate arachidonic acid from phospholipids for production of eicosanoids and exert a variety of physiologic and pathologic effects. Group XII sPLA2s, such as PLA2G12A, have relatively low specific activity and are structurally and functionally distinct from other sPLA2s (Gelb et al., 2000 [PubMed 11031251]).[supplied by OMIM, Mar 2008]. Sequence Note: The RefSeq transcript and protein were derived from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The extent of this RefSeq transcript is supported by transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803615.232034.1, SRR1660809.196392.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2467150, SAMN03267778 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243501.10/ ENSP00000243501.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## PA2 catalyzes the calcium-dependent hydrolysis of the 2- acyl groups in 3-sn-phosphoglycerides. Does not exhibit detectable activity toward sn-2-arachidonoyl- or linoleoyl- phosphatidylcholine or -phosphatidylethanolamine. Phosphatidylcholine + H(2)O = 1- acylglycerophosphocholine + a carboxylate. Binds 1 calcium ion per subunit (By similarity). Secreted. Cytoplasm. Abundantly expressed in heart, skeletal muscle, kidney, liver and pancreas. Mass=18702.6; Mass_error=0.5; Method=MALDI; Range=22-189; Source=PubMed:11031251; Belongs to the phospholipase A2 family. phospholipase A2 activity calcium ion binding extracellular region cytoplasm lipid metabolic process phospholipid metabolic process phosphatidic acid biosynthetic process biological_process lipid catabolic process hydrolase activity phosphatidylglycerol acyl-chain remodeling phosphatidylinositol acyl-chain remodeling phosphatidylserine acyl-chain remodeling phosphatidylcholine acyl-chain remodeling phosphatidylethanolamine acyl-chain remodeling metal ion binding calcium-dependent phospholipase A2 activity arachidonic acid secretion uc003hzp.1 uc003hzp.2 uc003hzp.3 uc003hzp.4 uc003hzp.5 
ENST00000243563.8 SNRPA ENST00000243563.8 Homo sapiens small nuclear ribonucleoprotein polypeptide A (SNRPA), mRNA. (from RefSeq NM_004596) ENST00000243563.1 ENST00000243563.2 ENST00000243563.3 ENST00000243563.4 ENST00000243563.5 ENST00000243563.6 ENST00000243563.7 NM_004596 P09012 SNRPA_HUMAN uc002ooz.1 uc002ooz.2 uc002ooz.3 uc002ooz.4 uc002ooz.5 The protein encoded by this gene associates with stem loop II of the U1 small nuclear ribonucleoprotein, which binds the 5' splice site of precursor mRNAs and is required for splicing. The encoded protein autoregulates itself by polyadenylation inhibition of its own pre-mRNA via dimerization and has been implicated in the coupling of splicing and polyadenylation. [provided by RefSeq, Oct 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC000405.2, SRR1163657.318416.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243563.8/ ENSP00000243563.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds stem loop II of U1 snRNA. It is the first snRNP to interact with pre-mRNA. This interaction is required for the subsequent binding of U2 snRNP and the U4/U6/U5 tri-snRNP. In a snRNP-free form (SF-A) may be involved in coupled pre-mRNA splicing and polyadenylation process. Binds preferentially to the 5'-UGCAC-3' motif in vitro. Belongs to the spliceosome where it is associated with snRNP U1. Interacts with SFPQ. Also component of a snRNP-free complex with SFPQ. P23246:SFPQ; NbExp=4; IntAct=EBI-607085, EBI-355453; Nucleus. Belongs to the RRM U1 A/B'' family. Contains 2 RRM (RNA recognition motif) domains. mRNA splicing, via spliceosome nucleic acid binding RNA binding protein binding nucleus nucleoplasm spliceosomal complex U1 snRNP mRNA processing RNA splicing U1 snRNA binding identical protein binding regulation of mRNA polyadenylation U1 snRNP binding uc002ooz.1 uc002ooz.2 uc002ooz.3 uc002ooz.4 uc002ooz.5 
ENST00000243578.8 B9D2 ENST00000243578.8 Homo sapiens B9 domain containing 2 (B9D2), mRNA. (from RefSeq NM_030578) B9D2_HUMAN ENST00000243578.1 ENST00000243578.2 ENST00000243578.3 ENST00000243578.4 ENST00000243578.5 ENST00000243578.6 ENST00000243578.7 MKSR2 NM_030578 Q9BPU9 uc002oqj.1 uc002oqj.2 uc002oqj.3 uc002oqj.4 This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.38730.1, SRR5189652.35644.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243578.8/ ENSP00000243578.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Part of the tectonic-like complex (also named B9 complex). Interacts with TUBG1 (By similarity). Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. Nucleus (By similarity). Defects in B9D2 are the cause of Meckel syndrome type 10 (MKS10) [MIM:614175]. MKS10 is a disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Belongs to the B9D family. Contains 1 B9 domain. protein binding nucleus cytoplasm centrosome cytosol cytoskeleton cilium membrane cell projection organization MKS complex ciliary basal body cell projection gamma-tubulin binding cilium assembly ciliary basal body docking uc002oqj.1 uc002oqj.2 uc002oqj.3 uc002oqj.4 
ENST00000243644.9 ZNF350 ENST00000243644.9 Homo sapiens zinc finger protein 350 (ZNF350), mRNA. (from RefSeq NM_021632) ENST00000243644.1 ENST00000243644.2 ENST00000243644.3 ENST00000243644.4 ENST00000243644.5 ENST00000243644.6 ENST00000243644.7 ENST00000243644.8 NM_021632 Q96G73 Q9GZX5 Q9HAQ4 ZBRK1 ZN350_HUMAN uc002pyd.1 uc002pyd.2 uc002pyd.3 uc002pyd.4 uc002pyd.5 Transcriptional repressor. Binds to a specific sequence, 5'-GGGxxxCAGxxxTTT-3', within GADD45 intron 3. Interacts with BRCA1. Interacts with RNF11. P38398:BRCA1; NbExp=3; IntAct=EBI-396421, EBI-349905; Nucleus matrix. Note=Associated with the nuclear matrix. Widely expressed. Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 8 C2H2-type zinc fingers. Contains 1 KRAB domain. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm regulation of transcription, DNA-templated nuclear matrix nuclear body transcriptional repressor complex transcription regulatory region DNA binding negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding uc002pyd.1 uc002pyd.2 uc002pyd.3 uc002pyd.4 uc002pyd.5 
ENST00000243662.11 RAB38 ENST00000243662.11 Homo sapiens RAB38, member RAS oncogene family (RAB38), mRNA. (from RefSeq NM_022337) ENST00000243662.1 ENST00000243662.10 ENST00000243662.2 ENST00000243662.3 ENST00000243662.4 ENST00000243662.5 ENST00000243662.6 ENST00000243662.7 ENST00000243662.8 ENST00000243662.9 NM_022337 P57729 Q53XK7 RAB38_HUMAN uc001pcj.1 uc001pcj.2 uc001pcj.3 uc001pcj.4 May be involved in melanosomal transport and docking. Involved in the proper sorting of TYRP1. Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Melanosome. Expressed in melanocytes. Although at least one in vitro system can process and methylate the prenylated C-terminal, in an in vitro system that normally express Rab-38 and in vivo the prenylated C-terminal is not proteolytically processed and not methylated. Belongs to the small GTPase superfamily. Rab family. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/rab38/"; nucleotide binding GTPase activity protein binding GTP binding cytoplasm mitochondrion lysosome early endosome endoplasmic reticulum Golgi apparatus trans-Golgi network cytosol plasma membrane intracellular protein transport organelle organization mitochondrion organization small GTPase mediated signal transduction protein transport membrane vesicle-mediated transport phagocytic vesicle membrane GTP-dependent protein binding cytoplasmic vesicle vesicle Rab protein signal transduction melanosome membrane endosome to melanosome transport AP-1 adaptor complex binding AP-3 adaptor complex binding BLOC-2 complex binding melanosome post-translational protein modification ER-mitochondrion membrane contact site phagocytic vesicle platelet dense granule organization protein localization to membrane phagosome acidification melanosome assembly positive regulation of phosphatidylcholine biosynthetic process early endosome lumen AP-2 adaptor complex binding uc001pcj.1 uc001pcj.2 uc001pcj.3 uc001pcj.4 
ENST00000243673.7 GPR83 ENST00000243673.7 Homo sapiens G protein-coupled receptor 83 (GPR83), transcript variant 1, mRNA. (from RefSeq NM_016540) B0M0K5 ENST00000243673.1 ENST00000243673.2 ENST00000243673.3 ENST00000243673.4 ENST00000243673.5 ENST00000243673.6 GPR72 GPR83_HUMAN KIAA1540 NM_016540 Q6NWR4 Q9NYM4 Q9P1Y8 uc001pet.1 uc001pet.2 uc001pet.3 Orphan receptor. Could be a neuropeptide Y receptor. Cell membrane; Multi-pass membrane protein. Brain specific. Belongs to the G-protein coupled receptor 1 family. Sequence=BAA96064.1; Type=Erroneous initiation; G-protein coupled receptor activity neuropeptide Y receptor activity plasma membrane cilium signal transduction G-protein coupled receptor signaling pathway neuropeptide signaling pathway membrane integral component of membrane response to glucocorticoid non-motile cilium uc001pet.1 uc001pet.2 uc001pet.3 
ENST00000243706.8 HAUS3 ENST00000243706.8 Homo sapiens HAUS augmin like complex subunit 3 (HAUS3), transcript variant 2, mRNA. (from RefSeq NM_024511) C4orf15 ENST00000243706.1 ENST00000243706.2 ENST00000243706.3 ENST00000243706.4 ENST00000243706.5 ENST00000243706.6 ENST00000243706.7 HAUS3_HUMAN NM_024511 O43606 Q68CZ6 Q8TAZ5 Q9BTJ9 uc003ges.1 uc003ges.2 This gene encodes a component of the HAUS augmin-like protein complex, which plays a key role in cytokinesis and mitosis. Disruption of the encoded protein causes mitotic defects resulting from fragmentation of centrosomes and microtubule destabilization. This gene shares its 5' exons with some transcripts from overlapping GeneID: 353497, which encodes a DNA polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. Component of the HAUS augmin-like complex. The complex interacts with the gamma-tubulin ring complex and this interaction is required for spindle assembly. Cytoplasm, cytoskeleton, centrosome. Cytoplasm, cytoskeleton, spindle. Note=Localizes to interphase centrosomes and to mitotic spindle microtubules. Belongs to the HAUS3 family. Sequence=AAB97010.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH03648.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH03648.1; Type=Frameshift; Positions=12; Sequence=AAH25356.1; Type=Erroneous initiation; Note=Translation N-terminally extended; G2/M transition of mitotic cell cycle molecular_function protein binding nucleoplasm cytoplasm mitochondrion centrosome microtubule organizing center spindle cytosol cytoskeleton microtubule cell cycle centrosome cycle regulation of G2/M transition of mitotic cell cycle microtubule cytoskeleton intercellular bridge spindle assembly cell division HAUS complex mitotic spindle ciliary basal body docking uc003ges.1 uc003ges.2 
ENST00000243776.11 CHPF ENST00000243776.11 Homo sapiens chondroitin polymerizing factor (CHPF), transcript variant 1, mRNA. (from RefSeq NM_024536) CHSS2_HUMAN CSS2 ENST00000243776.1 ENST00000243776.10 ENST00000243776.2 ENST00000243776.3 ENST00000243776.4 ENST00000243776.5 ENST00000243776.6 ENST00000243776.7 ENST00000243776.8 ENST00000243776.9 NM_024536 Q6UXD6 Q7L4G1 Q8IZ52 Q9H0F8 Q9H618 UNQ651/PRO1281 uc002vmc.1 uc002vmc.2 uc002vmc.3 uc002vmc.4 uc002vmc.5 uc002vmc.6 Has both beta-1,3-glucuronic acid and beta-1,4-N- acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. UDP-N-acetyl-D-galactosamine + beta-D- glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-proteoglycan = UDP + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl- (1->3)-N-acetyl-beta-D-galactosaminyl-proteoglycan. UDP-alpha-D-glucuronate + N-acetyl-beta-D- galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan = UDP + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-(1->4)- beta-D-glucuronosyl-proteoglycan. Divalent cations. Highest activities are measured with manganese. Can also utilize cobalt. Binds CHSY1. Q01780:EXOSC10; NbExp=1; IntAct=EBI-372500, EBI-358236; Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein (Probable). Ubiquitous. Highly expressed in pancreas, ovary, brain, heart, skeletal muscle, colon, kidney, liver, stomach, small intestine and placenta. Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the chondroitin N- acetylgalactosaminyltransferase family. Sequence=BAB15449.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; Golgi membrane protein binding cytoplasm mitochondrion mitochondrial matrix Golgi apparatus cytosol acetylgalactosaminyltransferase activity membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups chondroitin sulfate biosynthetic process Golgi cisterna membrane metal ion binding glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity uc002vmc.1 uc002vmc.2 uc002vmc.3 uc002vmc.4 uc002vmc.5 uc002vmc.6 
ENST00000243786.3 INHA ENST00000243786.3 Homo sapiens inhibin subunit alpha (INHA), mRNA. (from RefSeq NM_002191) A8K8H5 ENST00000243786.1 ENST00000243786.2 INHA_HUMAN NM_002191 P05111 uc002vmk.1 uc002vmk.2 uc002vmk.3 uc002vmk.4 This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate multiple peptide products, including the alpha subunit of the inhibin A and B protein complexes. These complexes negatively regulate follicle stimulating hormone secretion from the pituitary gland. Inhibins have also been implicated in regulating numerous cellular processes including cell proliferation, apoptosis, immune response and hormone secretion. Mutations in this gene may be associated with male infertility and premature ovarian failure in female human patients. [provided by RefSeq, Aug 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC039076.1, BC006391.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2142586 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243786.3/ ENSP00000243786.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins. Dimeric, linked by one or more disulfide bonds. Inhibin A is a dimer of alpha and beta-A. Inhibin B is a dimer of alpha and beta-B. Secreted. Originally found in ovary (granulosa cells) and testis (Sertoli cells), but widely distributed in many tissues including brain and placenta. In adrenal cortex expression is limited to the zona reticularis and the innermost zona fasciculata in the normal gland, extending centripetally into the zona fasciculata in hyperplasia. Also found in adrenocortical tumors. Also expressed in prostate epithelium of benign prostatic hyperplasia, in regions of basal cell hyperplasia and in nonmalignant regions of high grade prostate cancer. Only circulating inhibin B is found in male, whereas circulating inhibins A and B are found in female. Proteolytic processing yields a number of bioactive forms. The 20/23 kDa forms consist solely of the mature alpha chain, the 26/29 kDa forms consist of the most N-terminal propeptide linked through a disulfide bond to the mature alpha chain, the 50/53 kDa forms encompass the entire proprotein. Each type can be furthermore either mono- or diglycosylated, causing the mass difference. Belongs to the TGF-beta family. Name=Wikipedia; Note=Inhibin entry; URL="http://en.wikipedia.org/wiki/Inhibin"; skeletal system development ovarian follicle development photoreceptor outer segment photoreceptor inner segment receptor binding cytokine activity transforming growth factor beta receptor binding hormone activity protein binding extracellular region extracellular space cytoplasm cell cycle arrest signal transduction cell surface receptor signaling pathway cell-cell signaling growth factor activity male gonad development positive regulation of pathway-restricted SMAD protein phosphorylation cell differentiation erythrocyte differentiation inhibin-betaglycan-ActRII complex inhibin binding regulation of cell proliferation negative regulation of phosphorylation hemoglobin biosynthetic process regulation of apoptotic process neuronal cell body regulation of MAPK cascade inhibin A complex inhibin B complex negative regulation of interferon-gamma biosynthetic process negative regulation of B cell differentiation negative regulation of macrophage differentiation negative regulation of cell cycle positive regulation of follicle-stimulating hormone secretion negative regulation of follicle-stimulating hormone secretion protein heterodimerization activity cell development regulation of cell cycle SMAD protein signal transduction uc002vmk.1 uc002vmk.2 uc002vmk.3 uc002vmk.4 
ENST00000243878.9 ENKD1 ENST00000243878.9 Homo sapiens enkurin domain containing 1 (ENKD1), transcript variant 2, non-coding RNA. (from RefSeq NR_138150) C16orf48 CP048_HUMAN ENST00000243878.1 ENST00000243878.2 ENST00000243878.3 ENST00000243878.4 ENST00000243878.5 ENST00000243878.6 ENST00000243878.7 ENST00000243878.8 NR_138150 Q6UWD7 Q9H0I2 UNQ6410/PRO21183 uc002etw.1 uc002etw.2 uc002etw.3 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H0I2-1; Sequence=Displayed; Name=2; IsoId=Q9H0I2-2; Sequence=VSP_021904, VSP_021905; Note=No experimental confirmation available; protein binding cytoplasmic microtubule microtubule cytoskeleton uc002etw.1 uc002etw.2 uc002etw.3 
ENST00000243903.6 ACTR5 ENST00000243903.6 Homo sapiens actin related protein 5 (ACTR5), mRNA. (from RefSeq NM_024855) ARP5 ARP5_HUMAN ENST00000243903.1 ENST00000243903.2 ENST00000243903.3 ENST00000243903.4 ENST00000243903.5 NM_024855 Q86WF7 Q8IUY5 Q8N724 Q9BRN0 Q9BVB7 Q9H9F9 uc002xjd.1 uc002xjd.2 uc002xjd.3 uc002xjd.4 Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. Involved in DNA double-strand break repair and UV-damage excision repair. Component of the chromatin remodeling INO80 complex; specifically part of a complex module associated with the helicase ATP-binding and the helicase C-terminal domain of INO80. Interacts with DDB1. Interacts with ACTR8; the interaction is observed in asynchronous (interphase) cells but not in metaphase-arrested cells indicative for a possible dissociation of the INO80 complex in mitotic cells. Q9H981:ACTR8; NbExp=2; IntAct=EBI-769418, EBI-769597; Q16531:DDB1; NbExp=3; IntAct=EBI-769418, EBI-350322; Q9ULG1:INO80; NbExp=6; IntAct=EBI-769418, EBI-769345; Nucleus. Cytoplasm. Note=Predominantly nuclear but undergoes nucleo-cytoplasmic shuttling. Localized to interphase nuclei, but not nucleoli; excluded from chromosomes as mitosis progresses. Belongs to the actin family. ARP5 subfamily. Sequence=AAO65164.1; Type=Frameshift; Positions=319, 343, 347; protein binding nucleus nucleoplasm cytoplasm DNA repair double-strand break repair DNA recombination regulation of transcription, DNA-templated cellular response to DNA damage stimulus protein deubiquitination Ino80 complex ATP-dependent chromatin remodeling UV-damage excision repair uc002xjd.1 uc002xjd.2 uc002xjd.3 uc002xjd.4 
ENST00000243911.2 MC3R ENST00000243911.2 Homo sapiens melanocortin 3 receptor (MC3R), mRNA. (from RefSeq NM_019888) ENST00000243911.1 MC3R_HUMAN NM_019888 P41968 Q4KN27 Q9H517 uc002xxb.1 uc002xxb.2 This gene encodes a G-protein-coupled receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues other than the adrenal cortex and melanocytes. This gene maps to the same region as the locus for benign neonatal epilepsy. Mice deficient for this gene have increased fat mass despite decreased food intake, suggesting a role for this gene product in the regulation of energy homeostasis. Mutations in this gene are associated with a susceptibility to obesity in humans. [provided by RefSeq, Jul 2008]. Sequence Note: A downstream start codon is selected for this RefSeq based on conservation with homologs and for consistency with other family members, including the human melanocortin 4 and melanocortin 5 receptors. The use of an alternative upstream start codon, which is specific to primate species, would increase the protein length from 323 aa to 360 aa. This longer protein is referred to in the literature, including PMIDs 15292330 and 8463333. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC069105.1, BC069599.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: lack of evidence for use of upstream AUG MANE Ensembl match :: ENST00000243911.2/ ENSP00000243911.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for MSH (alpha, beta and gamma) and ACTH. This receptor is mediated by G proteins which activate adenylate cyclase. Cell membrane; Multi-pass membrane protein. Brain, placental, and gut tissues. Genetic variations in MC3R define the body mass index quantitative trait locus 9 (BMIQ9) [MIM:602025]. Variance in body mass index is a susceptibility factor for obesity. Belongs to the G-protein coupled receptor 1 family. Sequence=AAC13541.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH69105.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH69599.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH96702.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH96737.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH98169.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH98351.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAO72726.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; regulation of heart rate G-protein coupled receptor activity melanocortin receptor activity melanocyte-stimulating hormone receptor activity protein binding plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger adenylate cyclase-modulating G-protein coupled receptor signaling pathway adenylate cyclase-activating G-protein coupled receptor signaling pathway phospholipase C-activating G-protein coupled receptor signaling pathway regulation of blood pressure membrane integral component of membrane peptide hormone binding circadian regulation of gene expression homoiothermy neuropeptide binding locomotor rhythm rhythmic process sodium ion homeostasis regulation of feeding behavior uc002xxb.1 uc002xxb.2 
ENST00000243913.8 GCNT7 ENST00000243913.8 Homo sapiens glucosaminyl (N-acetyl) transferase family member 7 (GCNT7), transcript variant 1, non-coding, non-coding RNA. (from RefSeq NR_160308) C20orf105 ENST00000243913.1 ENST00000243913.2 ENST00000243913.3 ENST00000243913.4 ENST00000243913.5 ENST00000243913.6 ENST00000243913.7 GCNT7_HUMAN NR_160308 Q6ZNI0 Q9HCV8 uc061xwx.1 Glycosyltransferase (By similarity). Protein modification; protein glycosylation. Golgi apparatus membrane; Single-pass type II membrane protein (By similarity). Belongs to the glycosyltransferase 14 family. Sequence=CAC03741.2; Type=Erroneous gene model prediction; Sequence=CAC03741.2; Type=Erroneous termination; Positions=65; Note=Translated as Gln; Golgi membrane Golgi apparatus protein glycosylation acetylglucosaminyltransferase activity membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups uc061xwx.1 
ENST00000243918.10 SYS1 ENST00000243918.10 Homo sapiens SYS1 golgi trafficking protein (SYS1), transcript variant 1, mRNA. (from RefSeq NM_033542) C20orf169 E1P620 ENST00000243918.1 ENST00000243918.2 ENST00000243918.3 ENST00000243918.4 ENST00000243918.5 ENST00000243918.6 ENST00000243918.7 ENST00000243918.8 ENST00000243918.9 NM_033542 Q5QPU7 Q8N2H4 Q96SD8 Q9BQZ2 Q9BQZ4 Q9H1F7 SYS1_HUMAN uc002xnv.1 uc002xnv.2 uc002xnv.3 uc002xnv.4 uc002xnv.5 SYS1 forms a complex with ADP-ribosylation factor-related protein ARFRP1 (MIM 604699) and targets ARFRP1 to the Golgi apparatus (Behnia et al., 2004 [PubMed 15077113]).[supplied by OMIM, Aug 2009]. Involved in protein trafficking. May serve as a receptor for ARFRP1. Interacts with ARFRP1. Golgi apparatus membrane; Multi-pass membrane protein. Belongs to the SYS1 family. Sequence=CAC39448.1; Type=Erroneous initiation; Golgi membrane Golgi apparatus trans-Golgi network cytosol Golgi to endosome transport protein transport membrane integral component of membrane integral component of Golgi membrane trans-Golgi network membrane protein localization to Golgi apparatus Golgi to plasma membrane protein transport uc002xnv.1 uc002xnv.2 uc002xnv.3 uc002xnv.4 uc002xnv.5 
ENST00000243924.4 PI3 ENST00000243924.4 Homo sapiens peptidase inhibitor 3 (PI3), mRNA. (from RefSeq NM_002638) E1P618 ELAF_HUMAN ENST00000243924.1 ENST00000243924.2 ENST00000243924.3 NM_002638 P19957 Q6FG74 WAP3 WFDC14 uc002xng.1 uc002xng.2 uc002xng.3 uc002xng.4 uc002xng.5 This gene encodes an elastase-specific inhibitor that functions as an antimicrobial peptide against Gram-positive and Gram-negative bacteria, and fungal pathogens. The protein contains a WAP-type four-disulfide core (WFDC) domain, and is thus a member of the WFDC domain family. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. Expression of this gene is upgulated by bacterial lipopolysaccharides and cytokines. [provided by RefSeq, Oct 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BG490472.1, BC010952.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243924.4/ ENSP00000243924.3 Protein has antimicrobial activity :: PMID: 19906197 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Neutrophil and pancreatic elastase-specific inhibitor of skin. It may prevent elastase-mediated tissue proteolysis. Secreted. Consists of two domains: the transglutaminase substrate domain (cementoin moiety) and the elastase inhibitor domain. The transglutaminase substrate domain serves as an anchor to localize elafin covalently to specific sites on extracellular matrix proteins. Contains 1 WAP domain. cornified envelope endopeptidase inhibitor activity serine-type endopeptidase inhibitor activity extracellular region cytosol copulation negative regulation of peptidase activity negative regulation of endopeptidase activity peptide cross-linking antimicrobial humoral response structural constituent of epidermis peptidase inhibitor activity extracellular matrix cornification uc002xng.1 uc002xng.2 uc002xng.3 uc002xng.4 uc002xng.5 
ENST00000243938.9 WFDC3 ENST00000243938.9 Homo sapiens WAP four-disulfide core domain 3 (WFDC3), mRNA. (from RefSeq NM_080614) A6PVF2 ENST00000243938.1 ENST00000243938.2 ENST00000243938.3 ENST00000243938.4 ENST00000243938.5 ENST00000243938.6 ENST00000243938.7 ENST00000243938.8 NM_080614 Q0P6A5 Q3T1C5 Q8IUB2 Q8TC52 Q9BQP3 Q9BQP4 WAP14 WFDC3_HUMAN uc002xpf.1 uc002xpf.2 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains four WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Alternatively spliced transcript variants have been observed but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AF488306.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243938.9/ ENSP00000243938.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Secreted (Potential). Ubiquitously expressed. Contains 4 WAP domains. Sequence=AAI02014.1; Type=Erroneous initiation; Sequence=AAI02015.1; Type=Erroneous initiation; serine-type endopeptidase inhibitor activity extracellular region negative regulation of peptidase activity negative regulation of endopeptidase activity peptidase inhibitor activity uc002xpf.1 uc002xpf.2 
ENST00000243964.7 SLC12A5 ENST00000243964.7 Homo sapiens solute carrier family 12 member 5 (SLC12A5), transcript variant 2, mRNA. (from RefSeq NM_020708) A2RTX2 ENST00000243964.1 ENST00000243964.2 ENST00000243964.3 ENST00000243964.4 ENST00000243964.5 ENST00000243964.6 KCC2 KIAA1176 NM_020708 Q5VZ41 Q9H2X9 Q9H4Z0 Q9ULP4 S12A5_HUMAN uc002xrb.1 uc002xrb.2 uc002xrb.3 uc002xrb.4 K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008]. Mediates electroneutral potassium-chloride cotransport in mature neurons. Transport occurs under isotonic conditions, but is activated 20-fold by cell swelling. Important for Cl(-) homeostasis in neurons. Inhibited by WNK3. Homomultimer and heteromultimer with other K-Cl cotransporters. Interacts with AP2A1 (By similarity). Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=KCC2a; IsoId=Q9H2X9-1; Sequence=Displayed; Name=2; Synonyms=KCC2b; IsoId=Q9H2X9-2; Sequence=VSP_029909; Note=Ref.1 (AAG43493) sequence is in conflict in position: 2:L->P; Brain specific. Detected in neuronal cells. Inhibited by furosemide and bumetanide. Belongs to the SLC12A transporter family. plasma membrane integral component of plasma membrane ion transport potassium ion transport chloride transport cellular ion homeostasis cell volume homeostasis hypotonic response chemical synaptic transmission learning chloride transmembrane transporter activity symporter activity cation:chloride symporter activity potassium:chloride symporter activity membrane integral component of membrane protein kinase binding transmembrane transporter activity cellular chloride ion homeostasis multicellular organism growth thermosensory behavior response to drug chloride ion homeostasis potassium ion homeostasis transmembrane transport dendritic spine development chloride transmembrane transport potassium ion import across plasma membrane uc002xrb.1 uc002xrb.2 uc002xrb.3 uc002xrb.4 
ENST00000243997.8 ATP5F1E ENST00000243997.8 Homo sapiens ATP synthase F1 subunit epsilon (ATP5F1E), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_006886) ATP5E ATP5E_HUMAN B2RDD0 E1P5H6 ENST00000243997.1 ENST00000243997.2 ENST00000243997.3 ENST00000243997.4 ENST00000243997.5 ENST00000243997.6 ENST00000243997.7 NM_006886 P56381 Q53XU6 uc002yal.1 uc002yal.2 uc002yal.3 uc002yal.4 uc002yal.5 This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. Read-through transcripts that include exons from this gene are expressed from the upstream gene SLMO2.[provided by RefSeq, Mar 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.195812.1, SRR1803612.248998.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000243997.8/ ENSP00000243997.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and of the central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits (By similarity). F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) seems to have nine subunits: a, b, c, d, e, f, g, F6 and 8 (or A6L). Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68 (By similarity). Mitochondrion. Mitochondrion inner membrane. Ubiquitous. Defects in ATP5E are the cause of mitochondrial complex V deficiency nuclear type 3 (MC5DN3) [MIM:614053]. MC5DN3 is a mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid. Belongs to the eukaryotic ATPase epsilon family. mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) protein binding mitochondrion mitochondrial inner membrane mitochondrial proton-transporting ATP synthase complex mitochondrial matrix ATP biosynthetic process ion transport ATP synthesis coupled proton transport membrane hydrolase activity transmembrane transporter activity cristae formation mitochondrial ATP synthesis coupled proton transport proton-transporting ATP synthase complex, catalytic core F(1) proton-transporting ATP synthase activity, rotational mechanism ATPase activity uc002yal.1 uc002yal.2 uc002yal.3 uc002yal.4 uc002yal.5 
ENST00000244020.5 SRSF6 ENST00000244020.5 Homo sapiens serine and arginine rich splicing factor 6 (SRSF6), transcript variant 1, mRNA. (from RefSeq NM_006275) B7Z6J3 E1P5W6 ENST00000244020.1 ENST00000244020.2 ENST00000244020.3 ENST00000244020.4 NM_006275 Q13244 Q13245 Q13247 Q96J06 Q9UJB8 Q9Y3N7 SFRS6 SRP55 SRSF6_HUMAN uc010zwg.1 uc010zwg.2 uc010zwg.3 uc010zwg.4 The protein encoded by this gene is involved in mRNA splicing and may play a role in the determination of alternative splicing. The encoded nuclear protein belongs to the splicing factor SR family and has been shown to bind with and modulate another member of the family, SFRS12. Alternative splicing results in multiple transcript variants. In addition, two pseudogenes, one on chromosome 17 and the other on the X chromosome, have been found for this gene.[provided by RefSeq, Sep 2010]. Plays a role in constitutive splicing and can modulate the selection of alternative splice sites. Represses the splicing of MAPT/Tau exon 10. Binds SREK1/SFRS12. Nucleus. Event=Alternative splicing; Named isoforms=3; Name=SRP55-1; IsoId=Q13247-1; Sequence=Displayed; Name=SRP55-2; IsoId=Q13247-2; Sequence=VSP_005869, VSP_005870; Name=SRP55-3; IsoId=Q13247-3; Sequence=VSP_005871; Extensively phosphorylated on serine residues in the RS domain (By similarity). Belongs to the splicing factor SR family. Contains 2 RRM (RNA recognition motif) domains. alternative mRNA splicing, via spliceosome regulation of alternative mRNA splicing, via spliceosome mRNA splicing, via spliceosome nucleic acid binding RNA binding protein binding nucleus nucleoplasm mRNA splice site selection mRNA processing RNA export from nucleus mRNA export from nucleus RNA splicing negative regulation of gene expression regulation of keratinocyte proliferation nuclear speck mRNA 3'-end processing response to insulin pre-mRNA binding mRNA cis splicing, via spliceosome negative regulation of keratinocyte differentiation negative regulation of mRNA splicing, via spliceosome positive regulation of epithelial cell proliferation involved in lung morphogenesis negative regulation of cell death regulation of wound healing negative regulation of type B pancreatic cell apoptotic process uc010zwg.1 uc010zwg.2 uc010zwg.3 uc010zwg.4 
ENST00000244040.4 RAB22A ENST00000244040.4 Homo sapiens RAB22A, member RAS oncogene family (RAB22A), mRNA. (from RefSeq NM_020673) B3KR86 E1P605 ENST00000244040.1 ENST00000244040.2 ENST00000244040.3 NM_020673 Q8TF12 Q9H4E6 Q9UL26 RAB22 RB22A_HUMAN uc002xyz.1 uc002xyz.2 uc002xyz.3 uc002xyz.4 uc002xyz.5 The protein encoded by this gene is a member of the RAB family of small GTPases. The GTP-bound form of the encoded protein has been shown to interact with early-endosomal antigen 1, and may be involved in the trafficking of and interaction between endosomal compartments. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK091180.1, AJ276210.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244040.4/ ENSP00000244040.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays a role in endocytosis and intracellular protein transport. Mediates trafficking of TF from early endosomes to recycling endosomes. Required for NGF-mediated endocytosis of NTRK1, and subsequent neurite outgrowth. Binds GTP and GDP and has low GTPase activity. Alternates between a GTP-bound active form and a GDP-bound inactive form. Interacts directly with ZFYVE20 (By similarity). Binds EEA1 (By similarity). Interacts (in its GTP-bound form) with RABGEF1. Interacts (in its GTP-bound form) with RINL. Q15075:EEA1; NbExp=3; IntAct=EBI-399456, EBI-298113; Endosome membrane; Lipid-anchor (By similarity). Cell membrane; Lipid-anchor (By similarity). Early endosome. Cell projection, ruffle. Cytoplasmic vesicle. Belongs to the small GTPase superfamily. Rab family. nucleotide binding ruffle GTPase activity protein binding GTP binding endosome early endosome late endosome plasma membrane intracellular protein transport endocytosis endosome organization endosome membrane protein transport actin cytoskeleton membrane GDP binding phagocytic vesicle membrane cytoplasmic vesicle Rab protein signal transduction cell projection phagocytic vesicle extracellular exosome regulation of vesicle size uc002xyz.1 uc002xyz.2 uc002xyz.3 uc002xyz.4 uc002xyz.5 
ENST00000244043.5 PTGIS ENST00000244043.5 Homo sapiens prostaglandin I2 synthase (PTGIS), mRNA. (from RefSeq NM_000961) CYP8 CYP8A1 ENST00000244043.1 ENST00000244043.2 ENST00000244043.3 ENST00000244043.4 NM_000961 PTGIS_HUMAN Q16647 Q3MII8 Q9HAX2 Q9HAX3 Q9HAX4 uc002xut.1 uc002xut.2 uc002xut.3 uc002xut.4 uc002xut.5 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to prostacyclin (prostaglandin I2), a potent vasodilator and inhibitor of platelet aggregation. An imbalance of prostacyclin and its physiological antagonist thromboxane A2 contribute to the development of myocardial infarction, stroke, and atherosclerosis. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.168310.1, D38145.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244043.5/ ENSP00000244043.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Catalyzes the isomerization of prostaglandin H2 to prostacyclin (= prostaglandin I2). (5Z,13E)-(15S)-9-alpha,11-alpha-epidioxy-15- hydroxyprosta-5,13-dienoate = (5Z,13E)-(15S)-6,9-alpha-epoxy-11- alpha,15-dihydroxyprosta-5,13-dienoate. Heme group (By similarity). Endoplasmic reticulum membrane; Single-pass membrane protein. Widely expressed; particularly abundant in ovary, heart, skeletal muscle, lung and prostate. Belongs to the cytochrome P450 family. Name=Cytochrome P450 Allele Nomenclature Committee; Note=CYP8A1 alleles; URL="http://www.cypalleles.ki.se/cyp8a1.htm"; prostaglandin biosynthetic process monooxygenase activity iron ion binding protein binding extracellular space nucleus cytoplasm endoplasmic reticulum endoplasmic reticulum membrane caveola lipid metabolic process fatty acid metabolic process fatty acid biosynthetic process icosanoid metabolic process prostaglandin metabolic process embryo implantation prostaglandin-I synthase activity membrane integral component of membrane oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen isomerase activity cyclooxygenase pathway heme binding negative regulation of NF-kappaB transcription factor activity NAD biosynthesis via nicotinamide riboside salvage pathway positive regulation of peroxisome proliferator activated receptor signaling pathway negative regulation of nitric oxide biosynthetic process positive regulation of angiogenesis decidualization metal ion binding negative regulation of inflammatory response oxidation-reduction process cellular response to interleukin-1 cellular response to interleukin-6 cellular response to hypoxia apoptotic signaling pathway positive regulation of execution phase of apoptosis uc002xut.1 uc002xut.2 uc002xut.3 uc002xut.4 uc002xut.5 
ENST00000244050.3 SNAI1 ENST00000244050.3 Homo sapiens snail family transcriptional repressor 1 (SNAI1), mRNA. (from RefSeq NM_005985) ENST00000244050.1 ENST00000244050.2 NM_005985 O95863 Q9P113 Q9UBP7 Q9UHH7 SNAH SNAI1_HUMAN uc002xuz.1 uc002xuz.2 uc002xuz.3 uc002xuz.4 uc002xuz.5 The Drosophila embryonic protein snail is a zinc finger transcriptional repressor which downregulates the expression of ectodermal genes within the mesoderm. The nuclear protein encoded by this gene is structurally similar to the Drosophila snail protein, and is also thought to be critical for mesoderm formation in the developing embryo. At least two variants of a similar processed pseudogene have been found on chromosome 2. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC012910.1, SRR5189661.136537.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244050.3/ ENSP00000244050.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in the epithelial to mesenchymal transition (EMT) and formation and maintenance of embryonic mesoderm (By similarity). Binds to 3 E-boxes of the E-cadherin gene promoter and represses its transcription. Interacts with FBXL14 and GSK3B. Interacts with BTRC; interaction occurs when it is phosphorylated on the destruction motif. Interacts (via SNAG domain) with WTIP (via LIM domains) (By similarity). Interacts (via SNAG domain) with LIMD1 (via LIM domains), and AJUBA (via LIM domains). Interacts with LOXL2 and LOXL3. P49841:GSK3B; NbExp=4; IntAct=EBI-1045459, EBI-373586; O60341:KDM1A; NbExp=4; IntAct=EBI-1045459, EBI-710124; P09874:PARP1; NbExp=10; IntAct=EBI-1045459, EBI-355676; Nucleus. Cytoplasm. Note=Once phosphorylated (probably on Ser-107, Ser-111, Ser-115 and Ser-119) it is exported from the nucleus to the cytoplasm where subsequent phosphorylation of the destruction motif and ubiquitination involving BTRC occurs. Expressed in a variety of tissues with the highest expression in kidney. Expressed in mesenchymal and epithelial cell lines. Phosphorylated by GSK3B. Once phosphorylated, it becomes a target for BTRC ubiquitination. Ubiquitinated on Lys-98, Lys-137 and Lys-146 by FBXL14 and BTRC leading to degradation. BTRC-triggered ubiquitination requires previous GSK3B-mediated SNAI1 phosphorylation. O-GlcNAcylation at Ser-112 is enhanced in hyperglycaemic conditions, it opposes phosphorylation by GSK3B, and stabilizes the protein. Belongs to the snail C2H2-type zinc-finger protein family. Contains 4 C2H2-type zinc fingers. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding osteoblast differentiation mesoderm formation epithelial to mesenchymal transition aortic valve morphogenesis epithelial to mesenchymal transition involved in endocardial cushion formation nucleic acid binding DNA binding protein binding nucleus nucleoplasm pericentric heterochromatin cytoplasm cytosol regulation of transcription from RNA polymerase II promoter multicellular organism development mesoderm development positive regulation of epithelial to mesenchymal transition negative regulation of vitamin D biosynthetic process cell migration kinase binding positive regulation of cell migration hair follicle morphogenesis negative regulation of DNA damage response, signal transduction by p53 class mediator sequence-specific DNA binding negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated metal ion binding palate development cartilage morphogenesis trophoblast giant cell differentiation negative regulation of cell differentiation involved in embryonic placenta development left/right pattern formation Notch signaling involved in heart development heterochromatin organization E-box binding negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage regulation of bicellular tight junction assembly uc002xuz.1 uc002xuz.2 uc002xuz.3 uc002xuz.4 uc002xuz.5 
ENST00000244051.3 MOCS3 ENST00000244051.3 Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA. (from RefSeq NM_014484) ENST00000244051.1 ENST00000244051.2 MOCS3_HUMAN NM_014484 O95396 UBA4 uc002xvy.1 uc002xvy.2 uc002xvy.3 uc002xvy.4 Molybdenum cofactor (MoCo) is necessary for the function of all molybdoenzymes. The protein encoded by this gene adenylates and activates molybdopterin synthase, an enzyme required for biosynthesis of MoCo. This gene contains no introns. A pseudogene of this gene is present on chromosome 14. [provided by RefSeq, Nov 2012]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: SRR1803617.267477.1, SRR1803613.28578.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244051.3/ ENSP00000244051.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). Also essential during biosynthesis of the molybdenum cofactor. Acts by mediating the C-terminal thiocarboxylation of sulfur carriers URM1 and MOCS2A. Its N-terminus first activates URM1 and MOCS2A as acyl-adenylates (-COAMP), then the persulfide sulfur on the catalytic cysteine is transferred to URM1 and MOCS2A to form thiocarboxylation (-COSH) of their C-terminus. The reaction probably involves hydrogen sulfide that is generated from the persulfide intermediate and that acts as nucleophile towards URM1 and MOCS2A. Subsequently, a transient disulfide bond is formed. Does not use thiosulfate as sulfur donor; NFS1 probably acting as a sulfur donor for thiocarboxylation reactions. ATP + [molybdopterin-synthase sulfur-carrier protein]-Gly-Gly = diphosphate + [molybdopterin-synthase sulfur- carrier protein]-Gly-Gly-AMP. [Molybdopterin-synthase sulfur-carrier protein]-Gly-Gly-AMP + [cysteine desulfurase]-S-sulfanyl-L- cysteine = AMP + [molybdopterin-synthase sulfur-carrier protein]- Gly-NH-CH(2)-C(O)SH + cysteine desulfurase. Binds 1 zinc ion per subunit (By similarity). Kinetic parameters: KM=0.25 mM for thiosulfate; KM=0.28 mM for cyanide; tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine- tRNA biosynthesis. Cofactor biosynthesis; molybdopterin biosynthesis. Interacts with NFS1. Cytoplasm, cytosol. In the N-terminal section; belongs to the HesA/MoeB/ThiF family. UBA4 subfamily. Contains 1 rhodanese domain. nucleotide binding tRNA wobble uridine modification tRNA wobble position uridine thiolation catalytic activity thiosulfate sulfurtransferase activity protein binding ATP binding cytoplasm cytosol Mo-molybdopterin cofactor biosynthetic process tRNA processing metabolic process small protein activating enzyme activity transferase activity nucleotidyltransferase activity sulfurtransferase activity enzyme active site formation via cysteine modification to L-cysteine persulfide molybdopterin cofactor biosynthetic process protein urmylation tRNA thio-modification URM1 activating enzyme activity metal ion binding molybdopterin-synthase sulfurtransferase activity molybdopterin-synthase adenylyltransferase activity uc002xvy.1 uc002xvy.2 uc002xvy.3 uc002xvy.4 
ENST00000244061.6 RNF114 ENST00000244061.6 Homo sapiens ring finger protein 114 (RNF114), mRNA. (from RefSeq NM_018683) B2RDQ9 B4DWY5 E1P627 ENST00000244061.1 ENST00000244061.2 ENST00000244061.3 ENST00000244061.4 ENST00000244061.5 NM_018683 Q6N0B0 Q9Y508 RN114_HUMAN ZNF228 ZNF313 uc002xux.1 uc002xux.2 uc002xux.3 uc002xux.4 uc002xux.5 May play a role in spermatogenesis. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y508-1; Sequence=Displayed; Name=2; IsoId=Q9Y508-2; Sequence=VSP_036843, VSP_036844; Note=No experimental confirmation available; Expressed in numerous tissues, including skin, CD4 lymphocytes and dendritic cells. Highest levels in testis. Contains 1 RING-type zinc finger. Sequence=CAE45709.1; Type=Erroneous initiation; protein polyubiquitination intracellular nucleus cytoplasm cytosol plasma membrane multicellular organism development spermatogenesis protein ubiquitination transferase activity cell differentiation metal ion binding uc002xux.1 uc002xux.2 uc002xux.3 uc002xux.4 uc002xux.5 
ENST00000244137.12 PEPD ENST00000244137.12 Homo sapiens peptidase D (PEPD), transcript variant 1, mRNA. (from RefSeq NM_000285) A8K3Z1 A8K416 A8K696 A8MX47 B4DGJ1 ENST00000244137.1 ENST00000244137.10 ENST00000244137.11 ENST00000244137.2 ENST00000244137.3 ENST00000244137.4 ENST00000244137.5 ENST00000244137.6 ENST00000244137.7 ENST00000244137.8 ENST00000244137.9 NM_000285 P12955 PEPD_HUMAN PRD Q8TBN9 Q9BT75 uc002nur.1 uc002nur.2 uc002nur.3 uc002nur.4 uc002nur.5 uc002nur.6 This gene encodes a member of the peptidase family. The protein forms a homodimer that hydrolyzes dipeptides or tripeptides with C-terminal proline or hydroxyproline residues. The enzyme serves an important role in the recycling of proline, and may be rate limiting for the production of collagen. Mutations in this gene result in prolidase deficiency, which is characterized by the excretion of large amount of di- and tri-peptides containing proline. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]. Splits dipeptides with a prolyl or hydroxyprolyl residue in the C-terminal position. Plays an important role in collagen metabolism because the high level of iminoacids in collagen. Hydrolysis of Xaa-|-Pro dipeptides; also acts on aminoacyl-hydroxyproline analogs. No action on Pro-|-Pro. Binds 2 manganese ions per subunit. Homodimer. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P12955-1; Sequence=Displayed; Name=2; IsoId=P12955-2; Sequence=VSP_042629; Note=No experimental confirmation available; Mass=54251.73; Method=MALDI; Range=2-493; Source=PubMed:11840567; Defects in PEPD are a cause of prolidase deficiency (PD) [MIM:170100]. Prolidase deficiency is an autosomal recessive disorder associated with iminodipeptiduria. The clinical phenotype includes skin ulcers, mental retardation, recurrent infections, and a characteristic facies. These features, however are incompletely penetrant and highly variable in both age of onset and severity. There is a tight linkage between the polymorphisms of prolidase and the myotonic dystrophy trait. Belongs to the peptidase M24B family. Eukaryotic-type prolidase subfamily. aminopeptidase activity metallocarboxypeptidase activity protein binding nucleus nucleoplasm proteolysis cellular amino acid metabolic process peptidase activity metallopeptidase activity hydrolase activity dipeptidase activity manganese ion binding collagen catabolic process metal ion binding extracellular exosome proline dipeptidase activity uc002nur.1 uc002nur.2 uc002nur.3 uc002nur.4 uc002nur.5 uc002nur.6 
ENST00000244174.11 IL9R ENST00000244174.11 Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA. (from RefSeq NM_002186) ENST00000244174.1 ENST00000244174.10 ENST00000244174.2 ENST00000244174.3 ENST00000244174.4 ENST00000244174.5 ENST00000244174.6 ENST00000244174.7 ENST00000244174.8 ENST00000244174.9 IL9R_HUMAN NM_002186 Q01113 Q14634 Q8WWU1 Q96TF0 uc004fxn.1 uc004fxn.2 uc004fxn.3 The protein encoded by this gene is a cytokine receptor that specifically mediates the biological effects of interleukin 9 (IL9). The functional IL9 receptor complex requires this protein as well as the interleukin 2 receptor, gamma (IL2RG), a common gamma subunit shared by the receptors of many different cytokines. The ligand binding of this receptor leads to the activation of various JAK kinases and STAT proteins, which connect to different biologic responses. This gene is located at the pseudoautosomal regions of X and Y chromosomes. Genetic studies suggested an association of this gene with the development of asthma. Multiple pseudogenes on chromosome 9, 10, 16, and 18 have been described. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]. This is a receptor for interleukin-9. Cell membrane; Single-pass type I membrane protein. Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q01113-1; Sequence=Displayed; Name=2; IsoId=Q01113-2; Sequence=VSP_039025; The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell- surface receptor binding. The box 1 motif is required for JAK interaction and/or activation. The gene encoding for this protein is located in the pseudoautosomal region 2 (PAR2) of X and Y chromosomes. Belongs to the type I cytokine receptor family. Type 4 subfamily. Contains 1 fibronectin type-III domain. Sequence=AAB30844.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il9r/"; cytokine receptor activity interleukin-9 receptor activity extracellular region extracellular space plasma membrane integral component of plasma membrane signal transduction membrane integral component of membrane interleukin-9-mediated signaling pathway regulation of cell proliferation uc004fxn.1 uc004fxn.2 uc004fxn.3 
ENST00000244204.11 NAGK ENST00000244204.11 Homo sapiens N-acetylglucosamine kinase (NAGK), transcript variant 1, mRNA. (from RefSeq NM_017567) ENST00000244204.1 ENST00000244204.10 ENST00000244204.2 ENST00000244204.3 ENST00000244204.4 ENST00000244204.5 ENST00000244204.6 ENST00000244204.7 ENST00000244204.8 ENST00000244204.9 NAGK_HUMAN NM_017567 Q53HD5 Q6IA84 Q9BS29 Q9BVP0 Q9NV37 Q9UJ70 uc061kll.1 uc061kll.2 This gene encodes a member of the N-acetylhexosamine kinase family. The encoded protein catalyzes the conversion of N-acetyl-D-glucosamine to N-acetyl-D-glucosamine 6-phosphate, and is the major mammalian enzyme which recovers amino sugars. [provided by RefSeq, Nov 2011]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. CCDS Note: The coding region has been updated to shorten the N-terminus to one that is more supported by conservation. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.45062.1, SRR1660803.169264.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244204.11/ ENSP00000244204.5 RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## Converts endogenous N-acetylglucosamine (GlcNAc), a major component of complex carbohydrates, from lysosomal degradation or nutritional sources into GlcNAc 6-phosphate. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway: although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded. Also has ManNAc kinase activity. ATP + N-acetyl-D-glucosamine = ADP + N-acetyl- D-glucosamine 6-phosphate. Amino-sugar metabolism; N-acetylneuraminate degradation. Homodimer. Q8TBB1:LNX1; NbExp=2; IntAct=EBI-372578, EBI-739832; Ubiquitous. Belongs to the eukaryotic-type N-acetylglucosamine kinase family. nucleotide binding protein binding ATP binding cytosol N-acetylglucosamine metabolic process UDP-N-acetylglucosamine biosynthetic process N-acetylmannosamine metabolic process kinase activity phosphorylation transferase activity N-acetylneuraminate catabolic process N-acetylglucosamine kinase activity carbohydrate phosphorylation extracellular exosome uc061kll.1 uc061kll.2 
ENST00000244217.6 MCEE ENST00000244217.6 Homo sapiens methylmalonyl-CoA epimerase (MCEE), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_032601) ENST00000244217.1 ENST00000244217.2 ENST00000244217.3 ENST00000244217.4 ENST00000244217.5 MCEE_HUMAN NM_032601 Q53TP1 Q8WW63 Q96PE7 uc002shs.1 uc002shs.2 uc002shs.3 uc002shs.4 The product of this gene catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189652.63614.1, SRR5189661.77625.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244217.6/ ENSP00000244217.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## (R)-methylmalonyl-CoA = (S)-methylmalonyl-CoA. Mitochondrion (Probable). Defects in MCEE are a cause of methylmalonyl-CoA epimerase deficiency (MCEED) [MIM:251120]; also known as methylmalonyl-CoA racemase deficiency or methylmalonic aciduria type 3. MCEE deficiency is an autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma. Belongs to the glyoxalase I family. methylmalonyl-CoA epimerase activity protein binding mitochondrion mitochondrial matrix isomerase activity short-chain fatty acid catabolic process L-methylmalonyl-CoA metabolic process metal ion binding uc002shs.1 uc002shs.2 uc002shs.3 uc002shs.4 
ENST00000244221.9 PAIP2B ENST00000244221.9 Homo sapiens poly(A) binding protein interacting protein 2B (PAIP2B), mRNA. (from RefSeq NM_020459) ENST00000244221.1 ENST00000244221.2 ENST00000244221.3 ENST00000244221.4 ENST00000244221.5 ENST00000244221.6 ENST00000244221.7 ENST00000244221.8 KIAA1155 NM_020459 PAI2B_HUMAN Q9ULR5 uc002shu.1 uc002shu.2 uc002shu.3 uc002shu.4 Most mRNAs, except for histones, contain a 3-prime poly(A) tail. Poly(A)-binding protein (PABP; see MIM 604679) enhances translation by circularizing mRNA through its interaction with the translation initiation factor EIF4G1 (MIM 600495) and the poly(A) tail. Various PABP-binding proteins regulate PABP activity, including PAIP1 (MIM 605184), a translational stimulator, and PAIP2A (MIM 605604) and PAIP2B, translational inhibitors (Derry et al., 2006 [PubMed 17381337]).[supplied by OMIM, Mar 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.188656.1, SRR1660803.198078.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2144333, SAMEA2155590 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244221.9/ ENSP00000244221.8 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Belongs to the PAIP2 family. Sequence=BAA86469.1; Type=Erroneous initiation; translation repressor activity, nucleic acid binding protein binding cytoplasm regulation of translation negative regulation of translational initiation uc002shu.1 uc002shu.2 uc002shu.3 uc002shu.4 
ENST00000244227.8 SNRNP27 ENST00000244227.8 Homo sapiens small nuclear ribonucleoprotein U4/U6.U5 subunit 27 (SNRNP27), transcript variant 2, non-coding RNA. (from RefSeq NR_037862) ENST00000244227.1 ENST00000244227.2 ENST00000244227.3 ENST00000244227.4 ENST00000244227.5 ENST00000244227.6 ENST00000244227.7 NR_037862 Q15410 Q8WVK2 SNR27_HUMAN uc002sfw.1 uc002sfw.2 uc002sfw.3 uc002sfw.4 uc002sfw.5 This gene encodes a serine/arginine-rich (SR) protein. SR proteins play important roles in pre-mRNA splicing by facilitating the recognition and selection of splice sites. The encoded protein associates with the 25S U4/U6.U5 tri-snRNP, a major component of the U2-type spiceosome. The expression of this gene may be altered in cells infected with the human T-cell lymphotropic virus type 1 (HTLV-1) retrovirus. A pseudogene of this gene is located on the long arm of chromosome 5. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]. May play a role in mRNA splicing. Part of a tri-snRNP complex. Nucleus (Potential). Phosphorylated upon DNA damage, probably by ATM or ATR. Phosphorylated in vitro by snRNP-associated protein kinase. Belongs to the SNUT3 family. Sequence=CAA53949.1; Type=Erroneous initiation; mRNA splicing, via spliceosome nucleic acid binding protein binding cellular_component nucleus nucleoplasm mRNA processing biological_process RNA splicing uc002sfw.1 uc002sfw.2 uc002sfw.3 uc002sfw.4 uc002sfw.5 
ENST00000244230.7 MPHOSPH10 ENST00000244230.7 Homo sapiens M-phase phosphoprotein 10 (MPHOSPH10), mRNA. (from RefSeq NM_005791) A0AVJ8 ENST00000244230.1 ENST00000244230.2 ENST00000244230.3 ENST00000244230.4 ENST00000244230.5 ENST00000244230.6 MPP10 MPP10_HUMAN NM_005791 O00566 uc002sht.1 uc002sht.2 uc002sht.3 uc002sht.4 This gene encodes a protein that is phosphorylated during mitosis. The protein localizes to the nucleolus during interphase and to the chromosomes during M phase. The protein associates with the U3 small nucleolar ribonucleoprotein 60-80S complexes and may be involved in pre-rRNA processing. [provided by RefSeq, Dec 2010]. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.151375.1, SRR1660803.210472.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244230.7/ ENSP00000244230.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Component of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP). Required for the early cleavages during pre-18S ribosomal RNA processing. Component of a heterotrimeric complex containing IMP3, IMP4 and MPHOSPH10. Interacts with IMP3 and IMP4. Nucleus, nucleolus. Chromosome. Note=Fibrillar region of the nucleolus. After dissolution of the nucleolus in early M phase becomes associated with chromosomes through metaphase and anaphase. In telophase localized to small cellular prenucleolar bodies that not always contain fibrillarin. The reassociation with nucleolus is preceeded by the arrival of fibrillarin. Phosphorylated in M (mitotic) phase. Belongs to the MPP10 family. RNA splicing, via transesterification reactions RNA binding protein binding nucleus nucleoplasm chromosome nucleolus small nucleolar ribonucleoprotein complex rRNA processing RNA processing RNA splicing negative regulation of phosphatase activity small-subunit processome Mpp10 complex ribosome biogenesis uc002sht.1 uc002sht.2 uc002sht.3 uc002sht.4 
ENST00000244241.5 IL17C ENST00000244241.5 Homo sapiens interleukin 17C (IL17C), mRNA. (from RefSeq NM_013278) ENST00000244241.1 ENST00000244241.2 ENST00000244241.3 ENST00000244241.4 IL17C_HUMAN NM_013278 Q3MIG8 Q9HC75 Q9P0M4 UNQ561/PRO1122 uc002fla.1 uc002fla.2 uc002fla.3 uc002fla.4 uc002fla.5 The protein encoded by this gene is a T cell-derived cytokine that shares the sequence similarity with IL17. This cytokine was reported to stimulate the release of tumor necrosis factor alpha and interleukin 1 beta from a monocytic cell line. The expression of this cytokine was found to be restricted to activated T cells. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY358471.1, AF152099.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA2163459 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244241.5/ ENSP00000244241.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Stimulates the release of tumor necrosis factor alpha and IL-1-beta from the monocytic cell line THP-1. Secreted. Belongs to the IL-17 family. Name=Wikipedia; Note=Interleukin-17 entry; URL="http://en.wikipedia.org/wiki/Interleukin_17"; cytokine activity extracellular region extracellular space inflammatory response cell surface receptor signaling pathway cell-cell signaling interleukin-17-mediated signaling pathway uc002fla.1 uc002fla.2 uc002fla.3 uc002fla.4 uc002fla.5 
ENST00000244289.9 LIPE ENST00000244289.9 Homo sapiens lipase E, hormone sensitive type (LIPE), mRNA. (from RefSeq NM_005357) ENST00000244289.1 ENST00000244289.2 ENST00000244289.3 ENST00000244289.4 ENST00000244289.5 ENST00000244289.6 ENST00000244289.7 ENST00000244289.8 LIPS_HUMAN NM_005357 Q05469 Q3LRT2 Q6NSL7 uc002otr.1 uc002otr.2 uc002otr.3 uc002otr.4 uc002otr.5 The protein encoded by this gene has a long and a short form, generated by use of alternative translational start codons. The long form is expressed in steroidogenic tissues such as testis, where it converts cholesteryl esters to free cholesterol for steroid hormone production. The short form is expressed in adipose tissue, among others, where it hydrolyzes stored triglycerides to free fatty acids. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U40002.1, BC070041.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244289.9/ ENSP00000244289.3 RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## In adipose tissue and heart, it primarily hydrolyzes stored triglycerides to free fatty acids, while in steroidogenic tissues, it principally converts cholesteryl esters to free cholesterol for steroid hormone production. Diacylglycerol + H(2)O = monoacylglycerol + a carboxylate. Triacylglycerol + H(2)O = diacylglycerol + a carboxylate. Monoacylglycerol + H(2)O = glycerol + a carboxylate. Rapidly activated by cAMP-dependent phosphorylation under the influence of catecholamines. Dephosphorylation and inactivation are controlled by insulin. Glycerolipid metabolism; triacylglycerol degradation. Interacts with PTRF in the adipocyte cytoplasm. Cell membrane. Membrane, caveola. Cytoplasm, cytosol. Note=Found in the high-density caveolae. Translocates to the cytoplasm from the caveolae upon insulin stimulation. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Testicular; IsoId=Q05469-1; Sequence=Displayed; Name=2; IsoId=Q05469-2; Sequence=VSP_017116; Phosphorylation by AMPK may block translocation to lipid droplets (By similarity). Belongs to the 'GDXG' lipolytic enzyme family. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/lipe/"; triglyceride lipase activity protein binding cytoplasm lipid particle cytosol plasma membrane caveola protein phosphorylation lipid metabolic process steroid metabolic process cholesterol metabolic process membrane lipid catabolic process lipase activity hydrolase activity serine hydrolase activity triglyceride catabolic process protein kinase binding hormone-sensitive lipase activity long-chain fatty acid catabolic process diacylglycerol catabolic process uc002otr.1 uc002otr.2 uc002otr.3 uc002otr.4 uc002otr.5 
ENST00000244296.6 PSG1 ENST00000244296.6 Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA. (from RefSeq NM_006905) B1G1 ENST00000244296.1 ENST00000244296.2 ENST00000244296.3 ENST00000244296.4 ENST00000244296.5 NM_006905 O75236 P11462 P11463 P11464 PSBG1 PSG1_HUMAN PSGGA Q15231 Q15241 Q15243 Q16660 Q6ICR4 Q9P1W5 Q9UQ79 uc002ovd.1 The human placenta is a multihormonal endocrine organ that produces hormones, enzymes, and other molecules that support fetal survival and development. Pregnancy-specific beta-1-glycoprotein (PSBG, PSG) is a major product of the syncytiotrophoblast, reaching concentrations of 100 to 290 mg/l at term in the serum of pregnant women (Horne et al., 1976 [PubMed 971765]). PSG is a member of the immunoglobulin (Ig) superfamily (Watanabe and Chou, 1988 [PubMed 3257488]; Streydio et al., 1988 [PubMed 3260773]).[supplied by OMIM, Oct 2009]. Secreted (Potential). Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=PSG-1a; IsoId=P11464-1; Sequence=Displayed; Name=2; IsoId=P11464-2; Sequence=VSP_002550; Name=3; IsoId=P11464-3; Sequence=VSP_002549; Name=4; Synonyms=PSG-1d; IsoId=P11464-4; Sequence=VSP_002548; PSBG are produced in high quantity during pregnancy. Belongs to the immunoglobulin superfamily. CEA family. Contains 3 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 Ig-like V-type (immunoglobulin-like) domain. protein binding extracellular region female pregnancy leukocyte migration uc002ovd.1 
ENST00000244314.6 IRGC ENST00000244314.6 Homo sapiens immunity related GTPase cinema (IRGC), mRNA. (from RefSeq NM_019612) ENST00000244314.1 ENST00000244314.2 ENST00000244314.3 ENST00000244314.4 ENST00000244314.5 IIGP5 IIGP5_HUMAN IRGC1 NM_019612 Q05BR8 Q6NXR0 uc002oxh.1 uc002oxh.2 uc002oxh.3 uc002oxh.4 uc002oxh.5 GTP + H(2)O = GDP + phosphate. Belongs to the interferon-inducible GTPase family. nucleotide binding GTP binding membrane hydrolase activity uc002oxh.1 uc002oxh.2 uc002oxh.3 uc002oxh.4 uc002oxh.5 
ENST00000244333.4 LYPD3 ENST00000244333.4 Homo sapiens LY6/PLAUR domain containing 3 (LYPD3), mRNA. (from RefSeq NM_014400) C4.4A ENST00000244333.1 ENST00000244333.2 ENST00000244333.3 LYPD3_HUMAN NM_014400 O95274 Q9UJ74 UNQ491/PRO1007 uc002owl.1 uc002owl.2 uc002owl.3 Supports cell migration. May be involved in urothelial cell-matrix interactions. May be involved in tumor progression. Binds laminin-1 and laminin-5. Interacts with LGALS3 (By similarity). Interacts with AGR2 and AGR3. Cell membrane; Lipid-anchor, GPI-anchor. Expressed in placenta, skin and urothelium. Found in suprabasal keratinocytes of chronic wounds. Weak expression is found in esophagus and peripheral blood mononuclear cells. Found in the majority of primary and metastatic transitional cell carcinomas (TCCs) and as well in breast cancer tissues, but not in adjacent normal tissues. High expression is found in the tumor component of some noninvasive superficial lesions and in invasive and metastatic urothelial cancers. Up-regulated in migrating keratinocytes during epithelisation of incisional skin wounds. N-glycosylated and O-glycosylated. Mass=21442.9; Method=MALDI; Range=1-204; Source=PubMed:15012588; Contains 2 UPAR/Ly6 domains. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/LYPD3ID44245ch19q13.html"; extracellular region extracellular space plasma membrane cell-matrix adhesion membrane integral component of membrane anchored component of membrane laminin binding anchored component of plasma membrane uc002owl.1 uc002owl.2 uc002owl.3 
ENST00000244336.10 CEACAM8 ENST00000244336.10 Homo sapiens CEA cell adhesion molecule 8 (CEACAM8), mRNA. (from RefSeq NM_001816) ENST00000244336.1 ENST00000244336.2 ENST00000244336.3 ENST00000244336.4 ENST00000244336.5 ENST00000244336.6 ENST00000244336.7 ENST00000244336.8 ENST00000244336.9 NM_001816 Q0Z7S6 Q0Z7S6_HUMAN hCG_21882 uc002oud.1 uc002oud.2 uc002oud.3 uc002oud.4 uc002oud.1 uc002oud.2 uc002oud.3 uc002oud.4 
ENST00000244360.8 RNF39 ENST00000244360.8 Homo sapiens ring finger protein 39 (RNF39), transcript variant 1, mRNA. (from RefSeq NM_025236) A2BEK3 A6NCD6 B0S858 ENST00000244360.1 ENST00000244360.2 ENST00000244360.3 ENST00000244360.4 ENST00000244360.5 ENST00000244360.6 ENST00000244360.7 HZFW NM_025236 Q5SPM8 Q5SPM9 Q5SPN0 Q5SRJ9 Q5SRK1 Q5SS29 Q9H2S3 Q9H2S4 Q9H2S5 RNF39_HUMAN uc003npe.1 uc003npe.2 uc003npe.3 uc003npe.4 uc003npe.5 This gene lies within the major histocompatibility complex class I region on chromosome 6. Studies of a similar rat protein suggest that this gene encodes a protein that plays a role in an early phase of synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. May play a role in prolonged long term-potentiation (LTP) maintenance (By similarity). Cytoplasm (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=HZFW1; IsoId=Q9H2S5-1; Sequence=Displayed; Name=2; Synonyms=HZFW2; IsoId=Q9H2S5-2; Sequence=VSP_014242; Name=3; Synonyms=HZFW3; IsoId=Q9H2S5-3; Sequence=VSP_014240, VSP_014241; Note=Ref.1 (AAG40630) sequence differs from that show due to a frameshift in position 237; Expressed in testis. Contains 1 B30.2/SPRY domain. Contains 1 RING-type zinc finger. cellular_component cytoplasm biological_process metal ion binding uc003npe.1 uc003npe.2 uc003npe.3 uc003npe.4 uc003npe.5 
ENST00000244496.6 RRP36 ENST00000244496.6 Homo sapiens ribosomal RNA processing 36 (RRP36), transcript variant 3, non-coding RNA. (from RefSeq NR_138081) C6orf153 ENST00000244496.1 ENST00000244496.2 ENST00000244496.3 ENST00000244496.4 ENST00000244496.5 HSPC253 NR_138081 Q96EU6 Q9BRF6 Q9P0C8 RRP36_HUMAN uc003otp.1 uc003otp.2 uc003otp.3 RRP36 functions at an early stage in the processing of 35S preribosomal RNA into the mature 18S species (Gerus et al., 2010 [PubMed 20038530]).[supplied by OMIM, Jul 2010]. Involved in the early processing steps of the pre-rRNA in the maturation pathway leading to the 18S rRNA. Nucleus, nucleolus. Note=Concentrated in the fibrillar region of the nucleolus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96EU6-1; Sequence=Displayed; Name=2; IsoId=Q96EU6-2; Sequence=VSP_020884; Note=No experimental confirmation available; Meningioma antigen. Belongs to the RRP36 family. Sequence=AAH06293.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) cleavage involved in rRNA processing RNA binding nucleus nucleoplasm nucleolus rRNA processing 90S preribosome ribosome biogenesis ribosomal small subunit biogenesis uc003otp.1 uc003otp.2 uc003otp.3 
ENST00000244519.7 BTN3A3 ENST00000244519.7 Homo sapiens butyrophilin subfamily 3 member A3 (BTN3A3), transcript variant 1, mRNA. (from RefSeq NM_006994) BT3A3_HUMAN BTF3 ENST00000244519.1 ENST00000244519.2 ENST00000244519.3 ENST00000244519.4 ENST00000244519.5 ENST00000244519.6 NM_006994 O00478 uc003nhz.1 uc003nhz.2 uc003nhz.3 uc003nhz.4 The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A3) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010]. Membrane; Single-pass type I membrane protein (By similarity). Belongs to the immunoglobulin superfamily. BTN/MOG family. Contains 1 B30.2/SPRY domain. Contains 2 Ig-like V-type (immunoglobulin-like) domains. adaptive immune response immune system process T cell mediated immunity receptor binding plasma membrane external side of plasma membrane membrane integral component of membrane regulation of immune response T cell receptor signaling pathway uc003nhz.1 uc003nhz.2 uc003nhz.3 uc003nhz.4 
ENST00000244520.10 SNRPC ENST00000244520.10 Homo sapiens small nuclear ribonucleoprotein polypeptide C (SNRPC), transcript variant 1, mRNA. (from RefSeq NM_003093) ENST00000244520.1 ENST00000244520.2 ENST00000244520.3 ENST00000244520.4 ENST00000244520.5 ENST00000244520.6 ENST00000244520.7 ENST00000244520.8 ENST00000244520.9 NM_003093 Q5TAL4 Q5TAL4_HUMAN RP3-375P9.1-001 hCG_16077 uc003ojt.1 uc003ojt.2 uc003ojt.3 uc003ojt.4 This gene encodes one of the specific protein components of the U1 small nuclear ribonucleoprotein (snRNP) particle required for the formation of the spliceosome. The encoded protein participates in the processing of nuclear precursor messenger RNA splicing. snRNP particles are attacked by autoantibodies frequently produced by patients with connective tissue diseases. The genome contains several pseudogenes of this functional gene. Alternative splicing results in a non-coding transcript variant.[provided by RefSeq, Oct 2009]. Component of the U1 snRNP, which is essential for recognition of the pre-mRNA 5' splice-site and the subsequent assembly of the spliceosome. U1-C is directly involved in initial 5' splice-site recognition for both constitutive and regulated alternative splicing. The interaction with the 5' splice-site seems to precede base-pairing between the pre-mRNA and the U1 snRNA (By similarity). Nucleus (By similarity). Belongs to the U1 small nuclear ribonucleoprotein C family. Contains 1 matrin-type zinc finger. commitment complex spliceosomal snRNP assembly mRNA 5'-splice site recognition mRNA splicing, via spliceosome nucleic acid binding RNA binding mRNA binding protein binding nucleus nucleoplasm U1 snRNP zinc ion binding U1 snRNA binding metal ion binding U2-type prespliceosome U1 snRNP binding uc003ojt.1 uc003ojt.2 uc003ojt.3 uc003ojt.4 
ENST00000244527.10 SLC17A1 ENST00000244527.10 Homo sapiens solute carrier family 17 member 1 (SLC17A1), mRNA. (from RefSeq NM_005074) A8K418 ENST00000244527.1 ENST00000244527.2 ENST00000244527.3 ENST00000244527.4 ENST00000244527.5 ENST00000244527.6 ENST00000244527.7 ENST00000244527.8 ENST00000244527.9 NM_005074 NPT1 NPT1_HUMAN O60761 Q13783 Q14916 Q3MIP5 Q5MJP8 Q5TB83 Q96KL8 uc003nfh.1 uc003nfh.2 uc003nfh.3 uc003nfh.4 uc003nfh.5 uc003nfh.6 uc003nfh.7 Important for the resorption of phosphate by the kidney. May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Interacts with PDZK1 (By similarity). Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q14916-1; Sequence=Displayed; Name=2; IsoId=Q14916-2; Sequence=VSP_035012; Note=No experimental confirmation available; Expressed in kidney cortex, liver and brain but not in other tissues. Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. It is uncertain whether Met-1 or Met-3 is the initiator. Sequence=BAA05888.1; Type=Erroneous initiation; Sequence=CAI19543.1; Type=Erroneous initiation; plasma membrane integral component of plasma membrane ion transport sodium ion transport phosphate ion transport phosphate ion transmembrane transporter activity symporter activity sodium-dependent phosphate transmembrane transporter activity urate transport membrane integral component of membrane apical plasma membrane phosphate ion transmembrane transport sodium-dependent phosphate transport urate metabolic process transmembrane transport uc003nfh.1 uc003nfh.2 uc003nfh.3 uc003nfh.4 uc003nfh.5 uc003nfh.6 uc003nfh.7 
ENST00000244534.7 H1-3 ENST00000244534.7 Homo sapiens H1.3 linker histone, cluster member (H1-3), mRNA. (from RefSeq NM_005320) B2R751 ENST00000244534.1 ENST00000244534.2 ENST00000244534.3 ENST00000244534.4 ENST00000244534.5 ENST00000244534.6 H13_HUMAN H1F3 HIST1H1D NM_005320 P16402 Q2M2I2 uc003nhd.1 uc003nhd.2 uc003nhd.3 uc003nhd.4 uc003nhd.5 Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: AK312845.1, BC104874.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244534.7/ ENSP00000244534.6 RefSeq Select criteria :: based on single protein-coding transcript replication-dependent histone :: PMID: 12408966 ##RefSeq-Attributes-END## Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity). Nucleus. Chromosome. Note=Mainly localizes in euchromatin. The C-terminal domain is required for high-affinity binding to chromatin (By similarity). H1 histones are progressively phosphorylated during the cell cycle, becoming maximally phosphorylated during late G2 phase and M phase, and being dephosphorylated sharply thereafter (By similarity). Belongs to the histone H1/H5 family. Contains 1 H15 (linker histone H1/H5 globular) domain. negative regulation of transcription from RNA polymerase II promoter nucleosome nuclear chromatin DNA binding double-stranded DNA binding RNA binding nucleus chromosome nuclear euchromatin nucleosome assembly regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter nucleosome positioning chromosome condensation chromatin DNA binding nucleosomal DNA binding negative regulation of chromatin silencing negative regulation of DNA recombination histone H3-K4 trimethylation histone H3-K27 trimethylation uc003nhd.1 uc003nhd.2 uc003nhd.3 uc003nhd.4 uc003nhd.5 
ENST00000244537.6 H4C6 ENST00000244537.6 Homo sapiens H4 clustered histone 6 (H4C6), mRNA. (from RefSeq NM_003540) A2VCL0 ENST00000244537.1 ENST00000244537.2 ENST00000244537.3 ENST00000244537.4 ENST00000244537.5 H4/A H4/B H4/C H4/D H4/E H4/G H4/H H4/I H4/J H4/K H4/M H4/N H4/O H4F2 H4FA H4FB H4FC H4FD H4FE H4FG H4FH H4FI H4FJ H4FK H4FM H4FN H4FO H4_HUMAN HIST1H4A HIST1H4B HIST1H4C HIST1H4D HIST1H4E HIST1H4F HIST1H4H HIST1H4I HIST1H4J HIST1H4K HIST1H4L HIST2H4 HIST2H4A HIST2H4B HIST4H4 NM_003540 P02304 P02305 P62805 Q6DRA9 Q6FGB8 Q6NWP7 uc003nhe.1 uc003nhe.2 uc003nhe.3 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC093763.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244537.6/ ENSP00000244537.6 RefSeq Select criteria :: based on single protein-coding transcript replication-dependent histone :: PMID: 12408966 ##RefSeq-Attributes-END## Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA. Q12830:BPTF; NbExp=3; IntAct=EBI-302023, EBI-1560273; Q12830-4:BPTF; NbExp=16; IntAct=EBI-302023, EBI-4288838; P49450:CENPA; NbExp=4; IntAct=EBI-302023, EBI-1751979; O14929:HAT1; NbExp=4; IntAct=EBI-302023, EBI-2339359; Q9Y468:L3MBTL1; NbExp=3; IntAct=EBI-302023, EBI-1265089; P49736:MCM2; NbExp=3; IntAct=EBI-302023, EBI-374819; P25205:MCM3; NbExp=2; IntAct=EBI-302023, EBI-355153; P33992:MCM5; NbExp=2; IntAct=EBI-302023, EBI-359410; O14744:PRMT5; NbExp=3; IntAct=EBI-302023, EBI-351098; Q16576:RBBP7; NbExp=4; IntAct=EBI-302023, EBI-352227; Q9NQR1:SETD8; NbExp=4; IntAct=EBI-302023, EBI-1268946; Nucleus. Chromosome. Acetylation at Lys-6 (H4K5ac), Lys-9 (H4K8ac), Lys-13 (H4K12ac) and Lys-17 (H4K16ac) occurs in coding regions of the genome but not in heterochromatin. Citrullination at Arg-4 (H4R3ci) by PADI4 impairs methylation. Monomethylation and asymmetric dimethylation at Arg-4 (H4R3me1 and H4R3me2a, respectively) by PRMT1 favors acetylation at Lys-9 (H4K8ac) and Lys-13 (H4K12ac). Demethylation is performed by JMJD6. Symmetric dimethylation on Arg-4 (H4R3me2s) by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage. Monomethylated, dimethylated or trimethylated at Lys-21 (H4K20me1, H4K20me2, H4K20me3). Monomethylation is performed by SET8. Trimethylation is performed by SUV420H1 and SUV420H2 and induces gene silencing. Phosphorylated by PAK2 at Ser-48 (H4S47ph). This phosphorylation increases the association of H3.3-H4 with the histone chaperone HIRA, thus promoting nucleosome assembly of H3.3-H4 and inhibiting nucleosome assembly of H3.1-H4. Ubiquitinated by the CUL4-DDB-RBX1 complex in response to ultraviolet irradiation. This may weaken the interaction between histones and DNA and facilitate DNA accessibility to repair proteins. Monoubiquitinated at Lys-92 of histone H4 (H4K91ub1) in response to DNA damage. The exact role of H4K91ub1 in DNA damage response is still unclear but it may function as a licensing signal for additional histone H4 post-translational modifications such as H4 Lys-21 methylation (H4K20me). Sumoylated, which is associated with transcriptional repression. Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes. Belongs to the histone H4 family. Sequence=AAI28106.1; Type=Frameshift; Positions=3; chromatin silencing at rDNA nuclear chromosome nuclear chromosome, telomeric region nucleosome nuclear nucleosome DNA binding RNA binding protein binding extracellular region nucleus nucleoplasm chromosome double-strand break repair via nonhomologous end joining nucleosome assembly DNA replication-dependent nucleosome assembly DNA replication-independent nucleosome assembly DNA-templated transcription, initiation membrane telomere capping protein domain specific binding telomere organization macromolecular complex CENP-A containing nucleosome assembly cellular protein metabolic process regulation of megakaryocyte differentiation negative regulation of megakaryocyte differentiation negative regulation of gene expression, epigenetic protein heterodimerization activity protein heterotetramerization regulation of gene silencing by miRNA extracellular exosome uc003nhe.1 uc003nhe.2 uc003nhe.3 
ENST00000244565.8 UNC5CL ENST00000244565.8 Homo sapiens unc-5 family C-terminal like (UNC5CL), mRNA. (from RefSeq NM_173561) ENST00000244565.1 ENST00000244565.2 ENST00000244565.3 ENST00000244565.4 ENST00000244565.5 ENST00000244565.6 ENST00000244565.7 NM_173561 Q5TGU1 Q8IV45 UN5CL_HUMAN ZUD uc003opi.1 uc003opi.2 uc003opi.3 uc003opi.4 uc003opi.5 Inhibits NF-kappa-B-dependent transcription by impairing NF-kappa-B binding to its targets. Interacts with p65/RELA and NFKB1. Membrane; Single-pass type III membrane protein (Potential). Cytoplasm. Expressed in pancreas, liver and kidney. Belongs to the unc-5 family. Contains 1 death domain. Contains 1 ZU5 domain. netrin receptor activity cytoplasm proteolysis signal transduction peptidase activity membrane integral component of membrane netrin-activated signaling pathway positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of JNK cascade uc003opi.1 uc003opi.2 uc003opi.3 uc003opi.4 uc003opi.5 
ENST00000244571.5 AARS2 ENST00000244571.5 Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (AARS2), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_020745) A2RRN5 AARSL ENST00000244571.1 ENST00000244571.2 ENST00000244571.3 ENST00000244571.4 KIAA1270 NM_020745 Q5JTZ9 Q8N198 Q96D02 Q9ULF0 SYAM_HUMAN uc010jza.1 uc010jza.2 uc010jza.3 The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803615.55287.1, SRR1803613.100991.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000244571.5/ ENSP00000244571.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala- AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain (By similarity). ATP + L-alanine + tRNA(Ala) = AMP + diphosphate + L-alanyl-tRNA(Ala). Binds 1 zinc ion per subunit (Potential). Monomer (By similarity). Mitochondrion. Consists of three domains; the N-terminal catalytic domain, the editing domain and the C-terminal C-Ala domain. The editing domain removes incorrectly charged amino acids, while the C-Ala domain, along with tRNA(Ala), serves as a bridge to cooperatively bring together the editing and aminoacylation centers thus stimulating deacylation of misacylated tRNAs (By similarity). Defects in AARS2 are the cause of combined oxidative phosphorylation deficiency type 8 (COXPD8) [MIM:614096]. A mitochondrial disease characterized by a lethal infantile hypertrophic cardiomyopathy, generalized muscle dysfunction and some neurologic involvement. The liver is not affected. Belongs to the class-II aminoacyl-tRNA synthetase family. Sequence=BAA86584.1; Type=Erroneous initiation; tRNA binding nucleotide binding aminoacyl-tRNA editing activity nucleic acid binding RNA binding aminoacyl-tRNA ligase activity alanine-tRNA ligase activity ATP binding cytoplasm mitochondrion tRNA modification translation alanyl-tRNA aminoacylation zinc ion binding amino acid binding ligase activity tRNA aminoacylation metal ion binding mitochondrial alanyl-tRNA aminoacylation uc010jza.1 uc010jza.2 uc010jza.3 
ENST00000244573.5 H1-1 ENST00000244573.5 Homo sapiens H1.1 linker histone, cluster member (H1-1), mRNA. (from RefSeq NM_005325) ENST00000244573.1 ENST00000244573.2 ENST00000244573.3 ENST00000244573.4 H11_HUMAN H1F1 HIST1H1A NM_005325 Q02539 Q3MJ34 uc003nfo.1 uc003nfo.2 uc003nfo.3 uc003nfo.4 uc003nfo.5 Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC112140.1, EL736229.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244573.5/ ENSP00000244573.4 RefSeq Select criteria :: based on single protein-coding transcript replication-dependent histone :: PMID: 12408966 ##RefSeq-Attributes-END## Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity). Interacts with DFFB. Nucleus. Chromosome. Note=Mainly localizes in euchromatin. The C-terminal domain is required for high-affinity binding to chromatin. H1 histones are progressively phosphorylated during the cell cycle, becoming maximally phosphorylated during late G2 phase and M phase, and being dephosphorylated sharply thereafter (By similarity). Belongs to the histone H1/H5 family. Contains 1 H15 (linker histone H1/H5 globular) domain. nucleosome nuclear chromatin DNA binding double-stranded DNA binding protein binding nucleus chromosome nuclear euchromatin nucleosome assembly regulation of transcription, DNA-templated spermatogenesis heparin binding cell surface nucleosome positioning chromosome condensation chromatin DNA binding nucleosomal DNA binding negative regulation of chromatin silencing vesicle negative regulation of DNA recombination positive regulation of receptor-mediated endocytosis uc003nfo.1 uc003nfo.2 uc003nfo.3 uc003nfo.4 uc003nfo.5 
ENST00000244576.9 ZNF391 ENST00000244576.9 Homo sapiens zinc finger protein 391 (ZNF391), transcript variant 4, mRNA. (from RefSeq NM_001322293) B4DH77 ENST00000244576.1 ENST00000244576.2 ENST00000244576.3 ENST00000244576.4 ENST00000244576.5 ENST00000244576.6 ENST00000244576.7 ENST00000244576.8 NM_001322293 Q9UJN7 ZN391_HUMAN uc003njf.1 uc003njf.2 uc003njf.3 May be involved in transcriptional regulation (By similarity). Nucleus (Probable). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 9 C2H2-type zinc fingers. Sequence=CAB51755.1; Type=Erroneous initiation; nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated sequence-specific DNA binding metal ion binding uc003njf.1 uc003njf.2 uc003njf.3 
ENST00000244623.1 OR2B6 ENST00000244623.1 Homo sapiens olfactory receptor family 2 subfamily B member 6 (OR2B6), mRNA. (from RefSeq NM_012367) NM_012367 O43883 OR2B1 OR2B1P OR2B5 OR2B6P OR2B6_HUMAN P58173 Q6IF89 Q9H5B0 uc011dkx.1 uc011dkx.2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript is intronless :: BC109251.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244623.1/ ENSP00000244623.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Odorant receptor (Potential). Cell membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor 1 family. Name=Human Olfactory Receptor Data Exploratorium (HORDE); URL="http://bip.weizmann.ac.il/cgi-bin/HORDE/showGene.pl?key=symbol&value=OR2B6"; G-protein coupled receptor activity olfactory receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway sensory perception of smell membrane integral component of membrane response to stimulus detection of chemical stimulus involved in sensory perception of smell uc011dkx.1 uc011dkx.2 
ENST00000244669.3 APOBEC2 ENST00000244669.3 Homo sapiens apolipoprotein B mRNA editing enzyme catalytic subunit 2 (APOBEC2), mRNA. (from RefSeq NM_006789) ABEC2_HUMAN B2R899 ENST00000244669.1 ENST00000244669.2 NM_006789 Q53F28 Q5TGU5 Q5TGU6 Q9Y235 uc003opl.1 uc003opl.2 uc003opl.3 uc003opl.4 uc003opl.5 Probable C to U editing enzyme whose physiological substrate is not yet known. Does not display detectable apoB mRNA editing. Has a low intrinsic cytidine deaminase activity. May play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation. Zinc (By similarity). Homotetramer. Expressed exclusively in heart and skeletal muscle. Belongs to the cytidine and deoxycytidylate deaminase family. RNA binding catalytic activity cytidine deaminase activity nucleus cytoplasm mRNA processing cytidine deamination cytidine to uridine editing mRNA modification hydrolase activity identical protein binding metal ion binding DNA demethylation uc003opl.1 uc003opl.2 uc003opl.3 uc003opl.4 uc003opl.5 
ENST00000244728.10 COL21A1 ENST00000244728.10 Homo sapiens collagen type XXI alpha 1 chain (COL21A1), transcript variant 8, non-coding RNA. (from RefSeq NR_134851) A6NIX5 B2R8J9 COL1AL COLA1_HUMAN ENST00000244728.1 ENST00000244728.2 ENST00000244728.3 ENST00000244728.4 ENST00000244728.5 ENST00000244728.6 ENST00000244728.7 ENST00000244728.8 ENST00000244728.9 FP633 NR_134851 Q49A51 Q71RF4 Q8WXV8 Q96P44 Q9H0V3 uc003pcs.1 uc003pcs.2 uc003pcs.3 uc003pcs.4 uc003pcs.5 This gene encodes the alpha chain of type XXI collagen, a member of the FACIT (fibril-associated collagens with interrupted helices) collagen family. Type XXI collagen is localized to tissues containing type I collagen and maintains the integrity of the extracellular matrix. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. Secreted, extracellular space, extracellular matrix. Cytoplasm. Note=Found in the extracellular matrix component of blood vessel walls and in the cytoplasm of cultured human aortic smooth muscle. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96P44-1; Sequence=Displayed; Name=2; IsoId=Q96P44-2; Sequence=VSP_031083, VSP_031085, VSP_031086; Note=No experimental confirmation available; Name=3; IsoId=Q96P44-3; Sequence=VSP_031084; Note=No experimental confirmation available; Highly expressed in lymph node, jejunum, pancreas, stomach, trachea, testis, uterus and placenta; moderately expressed in brain, colon, lung, prostate, spinal cord, salivary gland and vascular smooth-muscle cells and very weakly expressed in heart, liver, kidney, bone marrow, spleen, thymus, skeletal muscle, adrenal gland and peripheral leukocytes. Expression in heart was higher in the right ventricle and atrium than in the left ventricle and atrium. Highest expression observed at the fetal stage. Expressed by smooth-muscle cells in the artery wall in a PDGF-dependent way. Stimulated by PDGF/platelet-derived growth factor. Belongs to the fibril-associated collagens with interrupted helices (FACIT) family. Contains 7 collagen-like domains. Contains 1 laminin G-like domain. Contains 1 VWFA domain. Sequence=AAH45597.1; Type=Frameshift; Positions=478; extracellular region collagen trimer cytoplasm endoplasmic reticulum lumen cytosol extracellular matrix structural constituent conferring tensile strength uc003pcs.1 uc003pcs.2 uc003pcs.3 uc003pcs.4 uc003pcs.5 
ENST00000244745.4 SOX4 ENST00000244745.4 Homo sapiens SRY-box transcription factor 4 (SOX4), mRNA. (from RefSeq NM_003107) ENST00000244745.1 ENST00000244745.2 ENST00000244745.3 NM_003107 Q06945 SOX4_HUMAN uc003ndi.1 uc003ndi.2 uc003ndi.3 uc003ndi.4 uc003ndi.5 uc003ndi.6 This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: X70683.1, SRR1163658.196647.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244745.4/ ENSP00000244745.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcriptional activator that binds with high affinity to the T-cell enhancer motif 5'-AACAAAG-3' motif. Interacts with UBE2I. Nucleus. Testis, brain, and heart. Contains 1 HMG box DNA-binding domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/SOX4ID42358ch6p22.html"; nuclear chromatin transcription regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding skeletal system development neural tube formation pro-B cell differentiation mitral valve morphogenesis cardiac ventricle formation cardiac right ventricle morphogenesis atrial septum primum morphogenesis noradrenergic neuron differentiation DNA binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity protein binding nucleus nucleoplasm cytoplasm mitochondrion regulation of transcription, DNA-templated DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest heart development positive regulation of cell proliferation negative regulation of cell proliferation glial cell proliferation spinal cord development spinal cord motor neuron differentiation glial cell development cell differentiation T cell differentiation endocrine pancreas development negative regulation of protein ubiquitination regulation of protein stability positive regulation of insulin secretion somatic stem cell population maintenance ascending aorta morphogenesis glucose homeostasis DNA damage response, detection of DNA damage positive regulation of apoptotic process nuclear transcription factor complex positive regulation of translation positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter sympathetic nervous system development protein stabilization limb bud formation ventricular septum morphogenesis negative regulation of cell death neuroepithelial cell differentiation kidney morphogenesis cellular response to glucose stimulus positive regulation of canonical Wnt signaling pathway positive regulation of N-terminal peptidyl-lysine acetylation uc003ndi.1 uc003ndi.2 uc003ndi.3 uc003ndi.4 uc003ndi.5 uc003ndi.6 
ENST00000244751.7 CPNE5 ENST00000244751.7 Homo sapiens copine 5 (CPNE5), transcript variant 1, mRNA. (from RefSeq NM_020939) CPNE5_HUMAN ENST00000244751.1 ENST00000244751.2 ENST00000244751.3 ENST00000244751.4 ENST00000244751.5 ENST00000244751.6 KIAA1599 NM_020939 Q9HCH3 uc003omr.1 uc003omr.2 uc003omr.3 Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. More variants may exist, but their full-length natures could not be determined. [provided by RefSeq, Sep 2015]. May function in membrane trafficking. Exhibits calcium- dependent phospholipid binding properties (By similarity). Belongs to the copine family. Contains 2 C2 domains. Contains 1 VWFA domain. Sequence=BAB13425.1; Type=Erroneous initiation; molecular_function calcium-dependent phospholipid binding plasma membrane cell differentiation cell projection neuron projection neuronal cell body perikaryon extracellular exosome cellular response to calcium ion positive regulation of dendrite extension uc003omr.1 uc003omr.2 uc003omr.3 
ENST00000244763.9 SSR1 ENST00000244763.9 Homo sapiens signal sequence receptor subunit 1 (SSR1), transcript variant 3, non-coding RNA. (from RefSeq NR_120448) A8K685 ENST00000244763.1 ENST00000244763.2 ENST00000244763.3 ENST00000244763.4 ENST00000244763.5 ENST00000244763.6 ENST00000244763.7 ENST00000244763.8 NR_120448 P43307 PSEC0262 Q53GX2 Q53H19 Q5TAM3 Q6IB43 Q8NBH9 Q96IA2 Q9TNQ8 Q9UN49 SSRA_HUMAN TRAPA uc003mxf.1 uc003mxf.2 uc003mxf.3 uc003mxf.4 uc003mxf.5 uc003mxf.6 uc003mxf.7 The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein encoded by this gene and a 22-kD glycoprotein. This gene generates several mRNA species as a result of complex alternative polyadenylation. This gene is unusual in that it utilizes arrays of polyA signal sequences that are mostly non-canonical. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]. TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins. May be involved in the recycling of the translocation apparatus after completion of the translocation process or may function as a membrane-bound chaperone facilitating folding of translocated proteins. Heterotetramer of TRAP-alpha, TRAP-beta, TRAP-delta and TRAP-gamma. Interacts with palmitoylated calnexin (CALX), the interaction is required for efficient folding of glycosylated proteins. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P43307-1; Sequence=Displayed; Name=2; IsoId=P43307-2; Sequence=VSP_013621; Note=No experimental confirmation available; Shows a remarkable charge distribution with the N-terminus being highly negatively charged, and the cytoplasmic C-terminus positively charged. Seems to bind calcium. Belongs to the TRAP-alpha family. Sequence=CAI16444.1; Type=Erroneous gene model prediction; protein binding endoplasmic reticulum endoplasmic reticulum membrane cotranslational protein targeting to membrane positive regulation of cell proliferation membrane integral component of membrane IRE1-mediated unfolded protein response uc003mxf.1 uc003mxf.2 uc003mxf.3 uc003mxf.4 uc003mxf.5 uc003mxf.6 uc003mxf.7 
ENST00000244820.2 ENSG00000124835 ENST00000244820.2 Homo sapiens uncharacterized LOC93463 (LOC93463), long non-coding RNA. (from RefSeq NR_135202) ENST00000244820.1 NR_135202 uc061tze.1 uc061tze.1 
ENST00000244869.3 EREG ENST00000244869.3 Homo sapiens epiregulin (EREG), mRNA. (from RefSeq NM_001432) B2RC66 ENST00000244869.1 ENST00000244869.2 EREG_HUMAN NM_001432 O14944 Q6FH69 uc003hie.1 uc003hie.2 uc003hie.3 This gene encodes a secreted peptide hormone and member of the epidermal growth factor (EGF) family of proteins. The encoded protein is a ligand of the epidermal growth factor receptor (EGFR) and the structurally related erb-b2 receptor tyrosine kinase 4 (ERBB4). The encoded protein may be involved in a wide range of biological processes including inflammation, wound healing, oocyte maturation, and cell proliferation. Additionally, the encoded protein may promote the progression of cancers of various human tissues. [provided by RefSeq, Jul 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: D30783.1, BC136404.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244869.3/ ENSP00000244869.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Ligand of the EGF receptor/EGFR and ERBB4. May be a mediator of localized cell proliferation. As a mitogen it may stimulate cell proliferation and/or angiogenesis. Interacts with EGFR and ERBB4. Epiregulin: Secreted, extracellular space. Proepiregulin: Cell membrane; Single-pass type I membrane protein. In normal adults, expressed predominantly in the placenta and peripheral blood leukocytes. High levels were detected in carcinomas of the bladder, lung, kidney and colon. Contains 1 EGF-like domain. MAPK cascade angiogenesis ovarian cumulus expansion oocyte maturation positive regulation of cytokine production epidermal growth factor receptor binding protein binding extracellular region extracellular space plasma membrane integral component of plasma membrane female meiotic division signal transduction epidermal growth factor receptor signaling pathway cell-cell signaling multicellular organism development growth factor activity positive regulation of cell proliferation negative regulation of cell proliferation mRNA transcription anatomical structure morphogenesis animal organ morphogenesis membrane integral component of membrane cytokine-mediated signaling pathway cell differentiation keratinocyte differentiation clathrin-coated vesicle membrane ovulation ERBB2 signaling pathway negative regulation of epidermal growth factor receptor signaling pathway wound healing positive regulation of cytokine biosynthetic process positive regulation of phosphorylation luteinizing hormone signaling pathway response to peptide hormone keratinocyte proliferation positive regulation of innate immune response positive regulation of interleukin-6 biosynthetic process positive regulation of DNA replication positive regulation of epidermal growth factor-activated receptor activity positive regulation of mitotic nuclear division positive regulation of protein kinase activity negative regulation of transcription, DNA-templated positive regulation of fibroblast proliferation primary follicle stage positive regulation of smooth muscle cell proliferation negative regulation of epithelial cell proliferation negative regulation of smooth muscle cell differentiation positive regulation of cell division positive regulation of protein kinase B signaling membrane organization regulation of cell motility uc003hie.1 uc003hie.2 uc003hie.3 
ENST00000244926.4 SCGB1D2 ENST00000244926.4 Homo sapiens secretoglobin family 1D member 2 (SCGB1D2), mRNA. (from RefSeq NM_006551) ENST00000244926.1 ENST00000244926.2 ENST00000244926.3 LIPHB NM_006551 O95969 Q2M3N9 SG1D2_HUMAN uc001ntb.1 uc001ntb.2 uc001ntb.3 uc001ntb.4 uc001ntb.5 The protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is an ortholog of prostatein, the major secretory glycoprotein of the rat ventral prostate gland. Lipophilin gene products are widely expressed in normal tissues, especially in endocrine-responsive organs. Assuming that human lipophilins are the functional counterparts of prostatein, they may be transcriptionally regulated by steroid hormones, with the ability to bind androgens, other steroids and possibly bind and concentrate estramustine, a chemotherapeutic agent widely used for prostate cancer. Although the gene has been reported to be on chromosome 10, this sequence appears to be from a cluster of genes on chromosome 11 that includes mammaglobin 2. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AL708956.1, BP314377.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244926.4/ ENSP00000244926.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May bind androgens and other steroids, may also bind estramustine, a chemotherapeutic agent used for prostate cancer. May be under transcriptional regulation of steroid hormones. Secreted (Potential). Highest expression was found in skeletal muscle. Expressed as well in thymus, trachea, kidney, steroid responsive tissues (prostate, testis, uterus, breast and ovary) and salivary gland. Belongs to the secretoglobin family. Lipophilin subfamily. extracellular region extracellular space uc001ntb.1 uc001ntb.2 uc001ntb.3 uc001ntb.4 uc001ntb.5 
ENST00000244930.6 SCGB2A1 ENST00000244930.6 Homo sapiens secretoglobin family 2A member 1 (SCGB2A1), mRNA. (from RefSeq NM_002407) ENST00000244930.1 ENST00000244930.2 ENST00000244930.3 ENST00000244930.4 ENST00000244930.5 LIPHC MGB2 NM_002407 O75556 SG2A1_HUMAN UGB3 uc001nta.1 uc001nta.2 uc001nta.3 May bind androgens and other steroids, may also bind estramustine, a chemotherapeutic agent used for prostate cancer. May be under transcriptional regulation of steroid hormones. Heterodimer of a lipophilin A and a lipophilin C (mammaglobin B) monomer associated head to head. Expressed in thymus, trachea, kidney, steroid responsive tissues (prostate, testis, uterus, breast and ovary) and salivary gland. Mass=8854.94; Method=Electrospray; Range=19-95; Source=PubMed:9720917; Belongs to the secretoglobin family. Lipophilin subfamily. extracellular region extracellular space androgen receptor signaling pathway protein heterodimerization activity uc001nta.1 uc001nta.2 uc001nta.3 
ENST00000245105.8 SH3TC1 ENST00000245105.8 Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), transcript variant 1, mRNA. (from RefSeq NM_018986) ENST00000245105.1 ENST00000245105.2 ENST00000245105.3 ENST00000245105.4 ENST00000245105.5 ENST00000245105.6 ENST00000245105.7 NM_018986 Q4W5G5 Q8TE82 S3TC1_HUMAN uc003gkv.1 uc003gkv.2 uc003gkv.3 uc003gkv.4 uc003gkv.5 uc003gkv.6 Contains 1 SH3 domain. Contains 9 TPR repeats. cellular_component biological_process uc003gkv.1 uc003gkv.2 uc003gkv.3 uc003gkv.4 uc003gkv.5 uc003gkv.6 
ENST00000245185.6 MT2A ENST00000245185.6 Homo sapiens metallothionein 2A (MT2A), mRNA. (from RefSeq NM_005953) CES1 ENST00000245185.1 ENST00000245185.2 ENST00000245185.3 ENST00000245185.4 ENST00000245185.5 MT2 MT2_HUMAN NM_005953 P02795 Q14823 Q2HXR9 Q53XT9 uc002ejh.1 uc002ejh.2 uc002ejh.3 uc002ejh.4 uc002ejh.5 This gene is a member of the metallothionein family of genes. Proteins encoded by this gene family are low in molecular weight, are cysteine-rich, lack aromatic residues, and bind divalent heavy metal ions, altering the intracellular concentration of heavy metals in the cell. These proteins act as anti-oxidants, protect against hydroxyl free radicals, are important in homeostatic control of metal in the cell, and play a role in detoxification of heavy metals. The encoded protein interacts with the protein encoded by the homeobox containing 1 gene in some cell types, controlling intracellular zinc levels, affecting apoptotic and autophagy pathways. Some polymorphisms in this gene are associated with an increased risk of cancer. [provided by RefSeq, Sep 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BM739923.1, BM817906.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000245185.6/ ENSP00000245185.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids. Q8TE69:CXorf40A; NbExp=2; IntAct=EBI-996616, EBI-996609; Q15139:PRKD1; NbExp=7; IntAct=EBI-996616, EBI-1181072; P58062:SPINK7; NbExp=7; IntAct=EBI-996616, EBI-1182445; Class I metallothioneins contain 2 metal-binding domains: four divalent ions are chelated within cluster A of the alpha domain and are coordinated via cysteinyl thiolate bridges to 11 cysteine ligands. Cluster B, the corresponding region within the beta domain, can ligate three divalent ions to 9 cysteines. This metallothionein binds zinc. Belongs to the metallothionein superfamily. Type 1 family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mt2a/"; protein binding nucleus cytoplasm cytosol cellular copper ion homeostasis cellular zinc ion homeostasis nitric oxide mediated signal transduction drug binding zinc ion binding response to bacterium response to metal ion detoxification of copper ion cellular response to drug cellular response to interleukin-3 cellular response to erythropoietin negative regulation of growth metal ion binding perinuclear region of cytoplasm interferon-gamma-mediated signaling pathway cellular response to cadmium ion cellular response to copper ion cellular response to zinc ion uc002ejh.1 uc002ejh.2 uc002ejh.3 uc002ejh.4 uc002ejh.5 
ENST00000245206.10 GOT2 ENST00000245206.10 Homo sapiens glutamic-oxaloacetic transaminase 2 (GOT2), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_002080) AATM_HUMAN ENST00000245206.1 ENST00000245206.2 ENST00000245206.3 ENST00000245206.4 ENST00000245206.5 ENST00000245206.6 ENST00000245206.7 ENST00000245206.8 ENST00000245206.9 NM_002080 P00505 Q53FL3 Q9BWA3 uc002eof.1 uc002eof.2 uc002eof.3 Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]. Catalyzes the irreversible transamination of the L- tryptophan metabolite L-kynurenine to form kynurenic acid (KA). Plays a key role in amino acid metabolism. Important for metabolite exchange between mitochondria and cytosol. Facilitates cellular uptake of long-chain free fatty acids. L-aspartate + 2-oxoglutarate = oxaloacetate + L-glutamate. L-kynurenine + 2-oxoglutarate = 4-(2- aminophenyl)-2,4-dioxobutanoate + L-glutamate. Pyridoxal phosphate. Homodimer. Mitochondrion matrix. Cell membrane. Note=Exposure to alcohol promotes translocation to the cell membrane. Up-regulated by long-time exposure to alcohol. In eukaryotes there are cytoplasmic, mitochondrial and chloroplastic isozymes. Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. RNA binding catalytic activity L-aspartate:2-oxoglutarate aminotransferase activity phospholipid binding mitochondrion mitochondrial inner membrane mitochondrial matrix plasma membrane gluconeogenesis 2-oxoglutarate metabolic process oxaloacetate metabolic process cellular amino acid metabolic process aspartate metabolic process aspartate biosynthetic process aspartate catabolic process glutamate metabolic process lipid transport female pregnancy lactation transaminase activity cellular amino acid biosynthetic process biosynthetic process cell surface response to muscle activity fatty acid transport membrane kynurenine-oxoglutarate transaminase activity amino acid binding transferase activity 4-hydroxyproline catabolic process glutamate catabolic process to aspartate glutamate catabolic process to 2-oxoglutarate enzyme binding pyridoxal phosphate binding T-tubule carboxylic acid binding response to insulin macromolecular complex sarcolemma protein homodimerization activity perikaryon response to morphine dicarboxylic acid metabolic process response to ethanol glyoxylate metabolic process extracellular exosome L-kynurenine metabolic process uc002eof.1 uc002eof.2 uc002eof.3 
ENST00000245222.9 SPHK2 ENST00000245222.9 Homo sapiens sphingosine kinase 2 (SPHK2), transcript variant 1, mRNA. (from RefSeq NM_020126) ENST00000245222.1 ENST00000245222.2 ENST00000245222.3 ENST00000245222.4 ENST00000245222.5 ENST00000245222.6 ENST00000245222.7 ENST00000245222.8 NM_020126 Q9BRN1 Q9H0Q2 Q9NRA0 Q9NWU7 SPHK2_HUMAN uc002pjr.1 uc002pjr.2 uc002pjr.3 uc002pjr.4 uc002pjr.5 This gene encodes one of two sphingosine kinase isozymes that catalyze the phosphorylation of sphingosine into sphingosine 1-phosphate. Sphingosine 1-phosphate mediates many cellular processes including migration, proliferation and apoptosis, and also plays a role in several types of cancer by promoting angiogenesis and tumorigenesis. The encoded protein may play a role in breast cancer proliferation and chemoresistance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]. Catalyzes the phosphorylation of sphingosine to form sphingosine 1-phosphate (SPP), a lipid mediator with both intra- and extracellular functions. Also acts on D-erythro- dihydrosphingosine, D-erythro-sphingosine and L-threo- dihydrosphingosine. Binds phosphoinositides. ATP + sphinganine = ADP + sphinganine 1- phosphate. ATP + sphingosine = ADP + sphingosine 1- phosphate. Magnesium (By similarity). Inhibited by sulfatide. Kinetic parameters: KM=3.4 uM for sphingosine; pH dependence: Optimum pH is 7.5; Isoform 1: Cytoplasm. Membrane. Isoform 2: Lysosome membrane. Event=Alternative splicing; Named isoforms=3; Comment=Experimental confirmation may be lacking for some isoforms; Name=1; IsoId=Q9NRA0-1; Sequence=Displayed; Name=2; IsoId=Q9NRA0-2; Sequence=VSP_006217; Name=3; IsoId=Q9NRA0-3; Sequence=VSP_006217, VSP_006218; Contains 1 DAGKc domain. nucleotide binding nucleosome blood vessel development cytokine secretion involved in immune response sphingosine-1-phosphate signaling pathway NAD+ kinase activity protein binding ATP binding nucleus cytoplasm mitochondrion mitochondrial inner membrane lysosome lysosomal membrane endoplasmic reticulum cytosol sphinganine-1-phosphate biosynthetic process sphingosine metabolic process brain development female pregnancy cell proliferation positive regulation of cell proliferation sphinganine kinase activity membrane kinase activity phosphorylation transferase activity Ras GTPase binding D-erythro-sphingosine kinase activity sphingolipid biosynthetic process negative regulation of cell growth negative regulation of histone deacetylation nucleosomal histone binding positive regulation of mast cell activation involved in immune response sphingosine-1-phosphate receptor activity positive regulation of apoptotic process negative regulation of apoptotic process regulation of I-kappaB kinase/NF-kappaB signaling intracellular membrane-bounded organelle positive regulation of mast cell degranulation histone H2A-K5 acetylation histone H2B-K12 acetylation positive regulation of gene expression, epigenetic sphingosine biosynthetic process lipid phosphorylation interleukin-6 secretion interleukin-13 secretion positive regulation of protein kinase C signaling positive regulation of calcium ion import negative regulation of histone deacetylase activity regulation of reactive oxygen species biosynthetic process cellular response to phorbol 13-acetate 12-myristate regulation of cytochrome-c oxidase activity tumor necrosis factor secretion positive regulation of ceramide biosynthetic process positive regulation of histone H3-K9 acetylation regulation of ATP biosynthetic process uc002pjr.1 uc002pjr.2 uc002pjr.3 uc002pjr.4 uc002pjr.5 
ENST00000245255.7 PIWIL1 ENST00000245255.7 Homo sapiens piwi like RNA-mediated gene silencing 1 (PIWIL1), transcript variant 1, mRNA. (from RefSeq NM_004764) A4F266 ENST00000245255.1 ENST00000245255.2 ENST00000245255.3 ENST00000245255.4 ENST00000245255.5 ENST00000245255.6 HIWI NM_004764 O95404 PIWL1_HUMAN Q8NA60 Q8TBY5 Q96J94 Q96JD5 uc001uik.1 uc001uik.2 uc001uik.3 uc001uik.4 This gene encodes a member of the PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA silencing, and translational regulation in diverse organisms. The encoded protein may play a role as an intrinsic regulator of the self-renewal capacity of germline and hematopoietic stem cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]. Plays a central role during spermatogenesis by repressing transposable elements and prevent their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Directly binds methylated piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer- independent mechanism and are primarily derived from transposons and other repeated sequence elements. Besides their function in transposable elements repression, piRNAs are probably involved in other processes during meiosis such as translation regulation. Probable component of some RISC complex, which mediates RNA cleavage and translational silencing. Also plays a role in the formation of chromatoid bodies and is required for some miRNAs stability (By similarity). Isoform 3 may be a negative developmental regulator. Interacts (via Piwi domain) with DICER1, suggesting that it forms ribonucleoprotein RISC complexes. This interaction is regulated by HSP90AB1 activity. Interacts with MAEL, KIF17, PABPC1, PRMT5 and WDR77. Interacts (when methylated on arginine residues) with TDRD1, TDRKH/TDRD2, RNF17/TDRD4, TDRD6, TDRD7 and TDRD9 (By similarity). Q9UPY3:DICER1; NbExp=2; IntAct=EBI-527417, EBI-395506; Cytoplasm (By similarity). Note=Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon during meiosis. Also present in chromatoid body (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96J94-1; Sequence=Displayed; Name=2; IsoId=Q96J94-2; Sequence=VSP_018368, VSP_018369; Name=3; IsoId=Q96J94-3; Sequence=VSP_018366, VSP_018367; Detected in most fetal and adult tissues. Expressed in testes, specifically in germline cells; detected in spermatocytes and spermatids during spermatogenesis. Increased expression in testicular tumors originating from embryonic germ cells with retention of germ cells phenotype. No expression in testicular tumors of somatic origin, such as Sertoli cell and Leydig cell tumors. Overexpressed in gastric cancer cells. Isoform 3 is ubiquitously expressed, and specifically in CD34+ hematopoietic progenitor cells but not in more differentiated cells. Isoform 3 is down-regulated in CD34(+) hematopoietic cells during differentiation. The PAZ domain specifically recognizes binds the 2'-O- methylated 3'-end of piRNAs. Arginine methylation by PRMT5 is required for the interaction with Tudor domain-containing protein (TDRD1, TDRKH/TDRD2, RNF17/TDRD4, TDRD6, TDRD7 and TDRD9) and subsequent localization to the meiotic nuage, also named P granule (By similarity). Belongs to the argonaute family. Piwi subfamily. Contains 1 PAZ domain. Contains 1 Piwi domain. nucleic acid binding RNA binding single-stranded RNA binding mRNA binding nuclease activity endonuclease activity endoribonuclease activity protein binding nucleus cytoplasm regulation of translation multicellular organism development spermatogenesis spermatid development negative regulation of transposition hydrolase activity protein kinase binding cell differentiation gene silencing by RNA chromatoid body piRNA binding piRNA metabolic process spermatogenesis, exchange of chromosomal proteins P granule metal ion binding meiotic cell cycle nucleic acid phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis, endonucleolytic dense body polysome binding uc001uik.1 uc001uik.2 uc001uik.3 uc001uik.4 
ENST00000245304.5 RAP2A ENST00000245304.5 Homo sapiens RAP2A, member of RAS oncogene family (RAP2A), mRNA. (from RefSeq NM_021033) B2RCJ1 ENST00000245304.1 ENST00000245304.2 ENST00000245304.3 ENST00000245304.4 NM_021033 P10114 Q5JSC1 Q5JSC2 RAP2A_HUMAN uc001vnd.1 uc001vnd.2 uc001vnd.3 uc001vnd.4 uc001vnd.5 Small GTP-binding protein which cycles between a GDP- bound inactive and a GTP-bound active form. In its active form interacts with and regulates several effectors including MAP4K4, MINK1 and TNIK. Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development. More generally, it is part of several signaling cascades and may regulate cytoskeletal rearrangements, cell migration, cell adhesion and cell spreading. Activated by the guanine nucleotide-exchange factors RAPGEF3 and RAPGEF4 in a cAMP-dependent manner. Nucleotide exchange is also specifically stimulated by RAPGEF5, RASGEF1A and RASGEF1B. Interacts (GTP-bound form) with RUNDC3A. Interacts with RGS14; the interaction is GTP-dependent (By similarity). Interacts with PLCE1. Interacts with ARHGAP29, SGSM1, SGSM2 and SGSM3. Interacts (GTP-bound form preferentially) with TNIK (via the CNH domain); the interaction is direct and recruits RAP2A to the E3 ubiquitin ligase NEDD4. Interacts with MINK1. Interacts (GTP-bound form preferentially) with MAP4K4. Interacts with cytoskeletal actin. Recycling endosome membrane; Lipid-anchor; Cytoplasmic side. Note=May also localize to the Golgi (PubMed:7962206) and the gelatinase-containing granules of neutrophils (PubMed:8391995). The effector domain mediates the interaction with RUNDC3A (By similarity). Ubiquitinated; undergoes 'Lys-63' monoubiquitination and diubiquitination by NEDD4. Multiple lysine residues are probably modified. Ubiquitination requires TNIK, prevents interaction with effectors and inactivates RAP2A. Palmitoylated. Palmitoylation is required for association with recycling endosome membranes and activation of TNIK (By similarity). Belongs to the small GTPase superfamily. Ras family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/RAP2AID274.html"; nucleotide binding magnesium ion binding positive regulation of protein phosphorylation GTPase activity protein binding GTP binding endosome cytosol plasma membrane signal transduction membrane GDP binding microvillus assembly negative regulation of cell migration midbody actin cytoskeleton reorganization positive regulation of protein autophosphorylation Rap protein signal transduction cellular protein localization cellular response to drug establishment of protein localization regulation of JNK cascade regulation of dendrite morphogenesis recycling endosome recycling endosome membrane protein localization to plasma membrane establishment of epithelial cell apical/basal polarity uc001vnd.1 uc001vnd.2 uc001vnd.3 uc001vnd.4 uc001vnd.5 
ENST00000245312.5 SLC10A2 ENST00000245312.5 Homo sapiens solute carrier family 10 member 2 (SLC10A2), mRNA. (from RefSeq NM_000452) A1L4F4 ASBT ENST00000245312.1 ENST00000245312.2 ENST00000245312.3 ENST00000245312.4 ISBT NM_000452 NTCP2 NTCP2_HUMAN Q12908 Q13839 uc001vpy.1 uc001vpy.2 uc001vpy.3 uc001vpy.4 uc001vpy.5 This gene encodes a sodium/bile acid cotransporter. This transporter is the primary mechanism for uptake of intestinal bile acids by apical cells in the distal ileum. Bile acids are the catabolic product of cholesterol metabolism, so this protein is also critical for cholesterol homeostasis. Mutations in this gene cause primary bile acid malabsorption (PBAM); muatations in this gene may also be associated with other diseases of the liver and intestines, such as familial hypertriglyceridemia (FHTG). [provided by RefSeq, Mar 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U10417.1, BC130523.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03267780 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000245312.5/ ENSP00000245312.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays a critical role in the sodium-dependent reabsorption of bile acids from the lumen of the small intestine. Plays a key role in cholesterol metabolism. Monomer and homodimer. Membrane; Multi-pass membrane protein. Defects in SLC10A2 are a cause of primary bile acid malabsorption (PBAM) [MIM:613291]. PBAM is an idiopathic intestinal disorder associated with congenital diarrhea, steatorrhea, interruption of the enterohepatic circulation of bile acids, and reduced plasma cholesterol levels. Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family. plasma membrane integral component of plasma membrane microvillus ion transport sodium ion transport bile acid:sodium symporter activity response to bacterium symporter activity bile acid and bile salt transport membrane integral component of membrane apical plasma membrane transmembrane transport uc001vpy.1 uc001vpy.2 uc001vpy.3 uc001vpy.4 uc001vpy.5 
ENST00000245407.8 SLC22A5 ENST00000245407.8 Homo sapiens solute carrier family 22 member 5 (SLC22A5), transcript variant 2, mRNA. (from RefSeq NM_003060) A2Q0V1 B2R844 D3DQ87 ENST00000245407.1 ENST00000245407.2 ENST00000245407.3 ENST00000245407.4 ENST00000245407.5 ENST00000245407.6 ENST00000245407.7 NM_003060 O76082 OCTN2 Q6ZQZ8 Q96EH6 S22A5_HUMAN uc003kww.1 uc003kww.2 uc003kww.3 uc003kww.4 uc003kww.5 uc003kww.6 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]. Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3. Interacts with PDZK1 (By similarity). Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O76082-1; Sequence=Displayed; Name=2; IsoId=O76082-2; Sequence=VSP_011120, VSP_011121; Note=No experimental confirmation available; Name=3; Synonyms=OCTN2VT; IsoId=O76082-3; Sequence=VSP_043904; Note=Retained in the ER, unable to perform carnitine uptake; Strongly expressed in kidney, skeletal muscle, heart and placenta. Highly expressed in intestinal cell types affected by Crohn disease, including epithelial cells. Expressed in CD68 macrophage and CD43 T-cells but not in CD20 B-cells. Defects in SLC22A5 are the cause of systemic primary carnitine deficiency (CDSP) [MIM:212140]. CDSP is an autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. Present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal myopathy or cardiomyopathy. Inhibited by emetine, quinidine and verapamil. The IC(50) of emetine is 4.2 uM. Not inhibited by valproic acid. Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC22A5"; Name=The SLC22A5 database; URL="http://www.arup.utah.edu/database/OCTN2/OCTN2_welcome.php"; nucleotide binding protein binding ATP binding plasma membrane ion transport sodium ion transport carnitine transmembrane transporter activity symporter activity quaternary ammonium group transmembrane transporter activity quaternary ammonium group transport carnitine transport drug transport membrane integral component of membrane apical plasma membrane transmembrane transporter activity PDZ domain binding brush border membrane xenobiotic transport xenobiotic transporter activity quorum sensing involved in interaction with host transmembrane transport positive regulation of intestinal epithelial structure maintenance extracellular exosome sodium-dependent organic cation transport carnitine transmembrane transport uc003kww.1 uc003kww.2 uc003kww.3 uc003kww.4 uc003kww.5 uc003kww.6 
ENST00000245451.9 BMP4 ENST00000245451.9 Homo sapiens bone morphogenetic protein 4 (BMP4), transcript variant 1, mRNA. (from RefSeq NM_001202) ENST00000245451.1 ENST00000245451.2 ENST00000245451.3 ENST00000245451.4 ENST00000245451.5 ENST00000245451.6 ENST00000245451.7 ENST00000245451.8 NM_001202 Q53XC5 Q53XC5_HUMAN hCG_20967 uc001xao.1 uc001xao.2 uc001xao.3 uc001xao.4 uc001xao.5 uc001xao.6 uc001xao.7 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers. [provided by RefSeq, Jul 2016]. Belongs to the TGF-beta family. negative regulation of transcription from RNA polymerase II promoter skeletal system development angiogenesis blood vessel development osteoblast differentiation metanephros development ureteric bud development branching involved in ureteric bud morphogenesis mesoderm formation organ induction kidney development neural tube closure positive regulation of protein phosphorylation positive regulation of endothelial cell proliferation vasculature development endochondral ossification chondrocyte differentiation hematopoietic progenitor cell differentiation renal system process outflow tract septum morphogenesis membranous septum morphogenesis outflow tract morphogenesis aortic valve morphogenesis pulmonary valve morphogenesis endocardial cushion development extracellular region extracellular space germ cell development endoderm development mesodermal cell fate determination heart development growth factor activity heparin binding positive regulation of cell proliferation negative regulation of cell proliferation post-embryonic development tissue development anterior/posterior axis specification specification of animal organ position regulation of gene expression positive regulation of gene expression negative regulation of gene expression positive regulation of epithelial to mesenchymal transition dorsal/ventral neural tube patterning telencephalon regionalization pituitary gland development erythrocyte differentiation lung development embryonic limb morphogenesis positive regulation of cell migration BMP signaling pathway positive regulation of BMP signaling pathway forebrain development negative regulation of chondrocyte differentiation embryonic hindlimb morphogenesis tendon cell differentiation deltoid tuberosity development odontogenesis of dentin-containing tooth regulation of odontogenesis of dentin-containing tooth embryonic digit morphogenesis camera-type eye development negative regulation of apoptotic process cell fate commitment regulation of cell differentiation positive regulation of cell differentiation positive regulation of endothelial cell differentiation positive regulation of neuron differentiation positive regulation of ossification positive regulation of transcription from RNA polymerase II promoter mesodermal cell differentiation camera-type eye morphogenesis embryonic morphogenesis anatomical structure formation involved in morphogenesis regulation of smooth muscle cell proliferation neuron fate commitment embryonic cranial skeleton morphogenesis embryonic skeletal system morphogenesis embryonic skeletal system development smooth muscle tissue development negative regulation of epithelial cell proliferation smooth muscle cell differentiation regulation of smooth muscle cell differentiation cardiac muscle cell differentiation inner ear receptor cell differentiation cloacal septation lens induction in camera-type eye embryonic skeletal joint morphogenesis bone development cranial suture morphogenesis SMAD protein signal transduction epithelium development trachea formation branching involved in prostate gland morphogenesis bud elongation involved in lung branching prostate gland morphogenesis mammary gland formation epithelial-mesenchymal cell signaling negative regulation of prostatic bud formation regulation of branching involved in prostate gland morphogenesis regulation of morphogenesis of a branching structure coronary vasculature development regulation of cartilage development positive regulation of branching involved in lung morphogenesis BMP signaling pathway involved in ureter morphogenesis BMP signaling pathway involved in renal system segmentation BMP signaling pathway involved in heart development pharyngeal arch artery morphogenesis positive regulation of ERK1 and ERK2 cascade cellular response to growth factor stimulus glomerular visceral epithelial cell development glomerular capillary formation mesenchymal cell proliferation involved in ureteric bud development mesenchymal cell differentiation involved in kidney development ureter epithelial cell differentiation ureter smooth muscle cell differentiation mesenchymal cell proliferation involved in ureter development metanephric collecting duct development negative regulation of branching involved in ureteric bud morphogenesis positive regulation of cell proliferation involved in outflow tract morphogenesis positive regulation of pri-miRNA transcription from RNA polymerase II promoter positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis mesenchymal cell differentiation involved in renal system development negative regulation of extrinsic apoptotic signaling pathway uc001xao.1 uc001xao.2 uc001xao.3 uc001xao.4 uc001xao.5 uc001xao.6 uc001xao.7 
ENST00000245457.6 PTGER2 ENST00000245457.6 Homo sapiens prostaglandin E receptor 2 (PTGER2), mRNA. (from RefSeq NM_000956) D3DSC0 ENST00000245457.1 ENST00000245457.2 ENST00000245457.3 ENST00000245457.4 ENST00000245457.5 NM_000956 P43116 PE2R2_HUMAN Q52LG8 uc001wzr.1 uc001wzr.2 uc001wzr.3 uc001wzr.4 uc001wzr.5 This gene encodes a receptor for prostaglandin E2, a metabolite of arachidonic acid which has different biologic activities in a wide range of tissues. Mutations in this gene are associated with aspirin-induced susceptibility to asthma. [provided by RefSeq, Oct 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.277466.1, U19487.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000245457.6/ ENSP00000245457.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(s) proteins that stimulate adenylate cyclase. The subsequent raise in intracellular cAMP is responsible for the relaxing effect of this receptor on smooth muscle. Cell membrane; Multi-pass membrane protein. Placenta and lung. Belongs to the G-protein coupled receptor 1 family. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/ptger2/"; G-protein coupled receptor activity prostaglandin E receptor activity plasma membrane integral component of plasma membrane inflammatory response signal transduction G-protein coupled receptor signaling pathway adenylate cyclase-activating G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration membrane integral component of membrane response to lipopolysaccharide response to progesterone regulation of cell proliferation cellular response to prostaglandin E stimulus positive regulation of gastric mucosal blood circulation uc001wzr.1 uc001wzr.2 uc001wzr.3 uc001wzr.4 uc001wzr.5 
ENST00000245479.3 SOX9 ENST00000245479.3 Homo sapiens SRY-box transcription factor 9 (SOX9), mRNA. (from RefSeq NM_000346) ENST00000245479.1 ENST00000245479.2 NM_000346 P48436 Q53Y80 SOX9_HUMAN uc002jiw.1 uc002jiw.2 uc002jiw.3 uc002jiw.4 uc002jiw.5 The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: Z46629.1, BC056420.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000245479.3/ ENSP00000245479.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays an important role in the normal skeletal development. May regulate the expression of other genes involved in chondrogenesis by acting as a transcription factor for these genes. Nucleus (Potential). Defects in SOX9 are the cause of campomelic dysplasia (CMD1) [MIM:114290]. CMD1 is a rare, often lethal, dominantly inherited, congenital osteochondrodysplasia, associated with male- to-female autosomal sex reversal in two-thirds of the affected karyotypic males. A disease of the newborn characterized by congenital bowing and angulation of long bones, unusually small scapulae, deformed pelvis and spine and a missing pair of ribs. Craniofacial defects such as cleft palate, micrognatia, flat face and hypertelorism are common. Various defects of the ear are often evident, affecting the cochlea, malleus incus, stapes and tympanum. Most patients die soon after birth due to respiratory distress which has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage. Defects in SOX9 are the cause of 46,XX sex reversal type 2 (SRXX2) [MIM:278850]. SRXX2 is a condition in which male gonads develop in a genetic female (female to male sex reversal). Contains 1 HMG box DNA-binding domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SOX9"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin transcription regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding enhancer sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding skeletal system development cartilage condensation ossification branching involved in ureteric bud morphogenesis cell fate specification epithelial to mesenchymal transition tissue homeostasis positive regulation of protein phosphorylation hair follicle development morphogenesis of an epithelium positive regulation of mesenchymal cell proliferation chondrocyte differentiation chondrocyte development negative regulation of immune system process heart valve development heart valve morphogenesis aortic valve morphogenesis heart valve formation endocardial cushion morphogenesis chondrocyte differentiation involved in endochondral bone morphogenesis chondrocyte hypertrophy DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm transcription factor complex nucleosome assembly chromatin remodeling regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter cytoskeleton organization signal transduction epidermal growth factor receptor signaling pathway Notch signaling pathway spermatogenesis central nervous system development heart development beta-catenin binding positive regulation of cell proliferation negative regulation of cell proliferation male gonad development regulation of gene expression regulation of cell cycle process positive regulation of gene expression negative regulation of gene expression positive regulation of epithelial cell migration neural crest cell development neural crest cell fate specification positive regulation of phosphatidylinositol 3-kinase signaling male germ-line sex determination cAMP-mediated signaling cell differentiation regulation of cell adhesion extracellular matrix organization male sex determination negative regulation of ossification negative regulation of bone mineralization prostate gland development negative regulation of epithelial cell differentiation positive regulation of epithelial cell differentiation mammary gland development notochord development otic vesicle formation endocrine pancreas development negative regulation of chondrocyte differentiation positive regulation of chondrocyte differentiation lacrimal gland development macromolecular complex protein kinase A catalytic subunit binding protein localization to nucleus somatic stem cell population maintenance enhancer binding intrahepatic bile duct development regulation of cell proliferation regulation of apoptotic process negative regulation of apoptotic process bHLH transcription factor binding protein kinase B signaling sequence-specific DNA binding transcription regulatory region DNA binding nuclear transcription factor complex cell fate commitment regulation of cell differentiation negative regulation of myoblast differentiation positive regulation of protein catabolic process negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter negative regulation of photoreceptor cell differentiation oligodendrocyte differentiation homeostasis of number of cells within a tissue positive regulation of epithelial cell proliferation negative regulation of epithelial cell proliferation cartilage development Sertoli cell differentiation Sertoli cell development astrocyte fate commitment retina development in camera-type eye limb bud formation retinal rod cell differentiation endochondral bone morphogenesis epithelial tube branching involved in lung morphogenesis lung epithelial cell differentiation prostate gland morphogenesis epithelial cell proliferation involved in prostatic bud elongation bronchus cartilage development trachea cartilage development intestinal epithelial structure maintenance regulation of cell proliferation involved in tissue homeostasis positive regulation of cartilage development regulation of branching involved in lung morphogenesis morphogenesis of a branching epithelium lung smooth muscle development macromolecular complex assembly negative regulation of biomineral tissue development ERK1 and ERK2 cascade Harderian gland development cellular response to mechanical stimulus cellular response to retinoic acid cellular response to interleukin-1 cellular response to epidermal growth factor stimulus cellular response to heparin cellular response to transforming growth factor beta stimulus otic vesicle development cellular response to BMP stimulus renal vesicle induction metanephric tubule development ureter development ureter urothelium development ureter smooth muscle cell differentiation ureter morphogenesis metanephric nephron tubule formation negative regulation of canonical Wnt signaling pathway cochlea morphogenesis positive regulation of kidney development positive regulation of branching involved in ureteric bud morphogenesis anterior head development pre-mRNA intronic binding cell-cell adhesion positive regulation of extracellular matrix assembly negative regulation of pri-miRNA transcription from RNA polymerase II promoter positive regulation of male gonad development positive regulation of cell proliferation involved in heart morphogenesis positive regulation of mesenchymal stem cell differentiation regulation of epithelial cell proliferation involved in lung morphogenesis negative regulation of mesenchymal cell apoptotic process uc002jiw.1 uc002jiw.2 uc002jiw.3 uc002jiw.4 uc002jiw.5 
ENST00000245503.10 MYH2 ENST00000245503.10 Homo sapiens myosin heavy chain 2 (MYH2), transcript variant 1, mRNA. (from RefSeq NM_017534) A0AVL4 ENST00000245503.1 ENST00000245503.2 ENST00000245503.3 ENST00000245503.4 ENST00000245503.5 ENST00000245503.6 ENST00000245503.7 ENST00000245503.8 ENST00000245503.9 MYH2_HUMAN MYHSA2 NM_017534 Q14322 Q16229 Q86T56 Q9UKX2 uc002gmp.1 uc002gmp.2 uc002gmp.3 uc002gmp.4 uc002gmp.5 uc002gmp.6 Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]. Muscle contraction. Required for cytoskeleton organization (By similarity). Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2). Interacts with GCSAM. Cytoplasm, myofibril. Note=Thick filaments of the myofibrils. The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils. Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can later be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2). Defects in MYH2 are the cause of inclusion body myopathy type 3 (IBM3) [MIM:605637]. Hereditary inclusion body myopathies constitute a group of neuromuscular disorders characterized by slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. IBM3 is a variant of hereditary inclusion body myopathies and is characterized by autosomal dominant myopathy with joint contracture, ophthalmoplegia and rimmed vacuoles. Morphological analysis of muscle biopsies from patients indicate that the type 2A fibers frequently were abnormal, whereas other fiber types appeared normal. Contains 1 IQ domain. Contains 1 myosin head-like domain. Represents a conventional myosin. This protein should not be confused with the unconventional myosin-2 (MYO2). microfilament motor activity nucleotide binding motor activity actin binding protein binding calmodulin binding ATP binding cytoplasm cytosol muscle myosin complex muscle contraction myosin complex myofibril sarcomere muscle filament sliding myosin filament macromolecular complex Fc-gamma receptor signaling pathway involved in phagocytosis actin filament binding uc002gmp.1 uc002gmp.2 uc002gmp.3 uc002gmp.4 uc002gmp.5 uc002gmp.6 
ENST00000245539.11 MRPS7 ENST00000245539.11 Homo sapiens mitochondrial ribosomal protein S7 (MRPS7), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_015971) B2R9N5 ENST00000245539.1 ENST00000245539.10 ENST00000245539.2 ENST00000245539.3 ENST00000245539.4 ENST00000245539.5 ENST00000245539.6 ENST00000245539.7 ENST00000245539.8 ENST00000245539.9 NM_015971 Q53GD6 Q9Y2R9 RT07_HUMAN uc002jnm.1 uc002jnm.2 uc002jnm.3 uc002jnm.4 uc002jnm.5 uc002jnm.6 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. In the prokaryotic ribosome, the comparable protein is thought to play an essential role in organizing the 3' domain of the 16 S rRNA in the vicinity of the P- and A-sites. Pseudogenes corresponding to this gene are found on chromosomes 8p and 12p. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.166676.1, SRR5189667.197372.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000245539.11/ ENSP00000245539.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Component of the mitochondrial ribosome small subunit (28S) which comprises a 12S rRNA and about 30 distinct proteins (By similarity). Mitochondrion (By similarity). Belongs to the ribosomal protein S7P family. ribosomal small subunit assembly RNA binding mRNA binding structural constituent of ribosome mitochondrion mitochondrial inner membrane mitochondrial small ribosomal subunit ribosome translation rRNA binding mitochondrial translation mitochondrial translational elongation mitochondrial translational termination uc002jnm.1 uc002jnm.2 uc002jnm.3 uc002jnm.4 uc002jnm.5 uc002jnm.6 
ENST00000245543.6 ARMC7 ENST00000245543.6 Homo sapiens armadillo repeat containing 7 (ARMC7), transcript variant 1, mRNA. (from RefSeq NM_024585) ARMC7_HUMAN ENST00000245543.1 ENST00000245543.2 ENST00000245543.3 ENST00000245543.4 ENST00000245543.5 NM_024585 Q9H6L4 uc002jmw.1 uc002jmw.2 Contains 2 ARM repeats. protein binding uc002jmw.1 uc002jmw.2 
ENST00000245544.9 NUP85 ENST00000245544.9 Homo sapiens nucleoporin 85 (NUP85), transcript variant 1, mRNA. (from RefSeq NM_024844) ENST00000245544.1 ENST00000245544.2 ENST00000245544.3 ENST00000245544.4 ENST00000245544.5 ENST00000245544.6 ENST00000245544.7 ENST00000245544.8 NM_024844 NUP75 NUP85_HUMAN PCNT1 Q8NDI4 Q9BW27 Q9H9U1 uc002jng.1 uc002jng.2 uc002jng.3 This gene encodes a protein component of the Nup107-160 subunit of the nuclear pore complex. Nuclear pore complexes are embedded in the nuclear envelope and promote bidirectional transport of macromolecules between the cytoplasm and nucleus. The encoded protein can also bind to the C-terminus of chemokine (C-C motif) receptor 2 (CCR2) and promote chemotaxis of monocytes, thereby participating in the inflammatory response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. Essential component of the nuclear pore complex (NPC) that seems to be required for NPC assembly and maintenance. As part of the NPC Nup107-160 subcomplex plays a role in RNA export and in tethering NUP98/Nup98 and NUP153 to the nucleus. The Nup107-160 complex seems to be required for spindle assembly during mitosis. NUP85 is required for membrane clustering of CCL2- activated CCR2. Seems to be involved in CCR2-mediated chemotaxis of monocytes and may link activated CCR2 to the phosphatidyl- inositol 3-kinase-Rac-lammellipodium protrusion cascade. Component of the nuclear pore complex (NPC). Component of the NPC Nup107-160 subcomplex, consisting of at least NUP107, NUP98/Nup96, NUP160, NUP133, NUP85, NUP37, NUP43 and SEC13. Interacts with NUP160, NUP133 and SEC13. Interacts with NUP37, NUP107 and NUP43. Interacts with CCR2. Nucleus, nuclear pore complex. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. Cytoplasm. Nucleus membrane. Note=During mitosis, localizes to the kinetochores and spindle poles. Upon CCl2 stimulation translocates from the cytoplasm to the membrane and colocalizes with CCR2 at the front of migrating cells. Belongs to the nucleoporin Nup85 family. Sequence=CAD38749.1; Type=Erroneous initiation; chromosome, centromeric region kinetochore condensed chromosome kinetochore protein binding nucleus nuclear envelope nuclear pore chromosome cytoplasm spindle cytosol cytoskeleton regulation of glycolytic process mRNA export from nucleus tRNA export from nucleus protein import into nucleus chemotaxis protein transport membrane viral process protein sumoylation structural constituent of nuclear pore viral transcription lamellipodium assembly nuclear pore outer ring nuclear membrane host cell positive regulation of transcription, DNA-templated macrophage chemotaxis mRNA transport regulation of gene silencing by miRNA nephron development intracellular transport of virus regulation of cellular response to heat uc002jng.1 uc002jng.2 uc002jng.3 
ENST00000245552.7 NT5C ENST00000245552.7 Homo sapiens 5', 3'-nucleotidase, cytosolic (NT5C), transcript variant 1, mRNA. (from RefSeq NM_014595) ENST00000245552.1 ENST00000245552.2 ENST00000245552.3 ENST00000245552.4 ENST00000245552.5 ENST00000245552.6 NM_014595 V9HWF3 uc002jmx.1 uc002jmx.2 uc002jmx.3 uc002jmx.4 uc002jmx.5 This gene encodes a nucleotidase that catalyzes the dephosphorylation of the 5' deoxyribonucleotides (dNTP) and 2'(3')-dNTP and ribonucleotides, but not 5' ribonucleotides. Of the different forms of nucleotidases characterized, this enzyme is unique in its preference for 5'-dNTP. It may be one of the enzymes involved in regulating the size of dNTP pools in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]. uc002jmx.1 uc002jmx.2 uc002jmx.3 uc002jmx.4 uc002jmx.5 
ENST00000245564.8 MSTO1 ENST00000245564.8 Homo sapiens misato mitochondrial distribution and morphology regulator 1 (MSTO1), transcript variant 27, non-coding RNA. (from RefSeq NR_146908) ENST00000245564.1 ENST00000245564.2 ENST00000245564.3 ENST00000245564.4 ENST00000245564.5 ENST00000245564.6 ENST00000245564.7 LST005 MSTO1_HUMAN NR_146908 Q53GR8 Q5CZ69 Q5T717 Q68CT6 Q7LBZ8 Q7Z3M7 Q7Z558 Q8TE05 Q9BUK6 Q9NQX2 Q9NVU4 SLTP005 uc001fky.1 uc001fky.2 uc001fky.3 uc001fky.4 uc001fky.5 uc001fky.6 Involved in the regulation of mitochondrial distribution and morphology. Mitochondrion outer membrane. Event=Alternative splicing; Named isoforms=7; Name=1; IsoId=Q9BUK6-1; Sequence=Displayed; Name=2; IsoId=Q9BUK6-2; Sequence=VSP_028056; Name=3; IsoId=Q9BUK6-3; Sequence=VSP_028054; Note=No experimental confirmation available; Name=4; IsoId=Q9BUK6-4; Sequence=VSP_028051, VSP_028052; Note=No experimental confirmation available; Name=5; IsoId=Q9BUK6-5; Sequence=VSP_028050, VSP_028056; Name=6; IsoId=Q9BUK6-6; Sequence=VSP_028049; Name=7; IsoId=Q9BUK6-7; Sequence=VSP_028053, VSP_028055; Note=No experimental confirmation available; Present in all cell lines tested (at protein level). Widely expressed. Belongs to the misato family. Sequence=AAM12424.1; Type=Frameshift; Positions=419; mitochondrial genome maintenance mitotic sister chromatid segregation molecular_function cytoplasm mitochondrion mitochondrial outer membrane mitochondrion organization membrane mitochondrion distribution mitotic spindle assembly uc001fky.1 uc001fky.2 uc001fky.3 uc001fky.4 uc001fky.5 uc001fky.6 
ENST00000245615.6 MBOAT7 ENST00000245615.6 Homo sapiens membrane bound O-acyltransferase domain containing 7 (MBOAT7), transcript variant 1, mRNA. (from RefSeq NM_024298) A9C4B6 B0V3I5 B4DQ87 BB1 ENST00000245615.1 ENST00000245615.2 ENST00000245615.3 ENST00000245615.4 ENST00000245615.5 LENG4 MBOA7_HUMAN NM_024298 OACT7 Q05DF0 Q7L5N2 Q96N66 Q99908 Q9BPV2 Q9BRE9 uc032icm.1 uc032icm.2 uc032icm.3 This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]. Acyltransferase which mediates the conversion of lysophosphatidylinositol (1-acylglycerophosphatidylinositol or LPI) into phosphatidylinositol (1,2-diacyl-sn-glycero-3- phosphoinositol or PI) (LPIAT activity). Prefers arachidonoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. Acyl-CoA + 1-acyl-sn-glycero-3- phosphatidylinositol = CoA + 1,2-diacyl-sn-glycero-3- phosphatidylinositol. Acyl-[acyl-carrier-protein] + 1-acyl-sn- glycerol 3-phosphate = [acyl-carrier-protein] + 1,2-diacyl-sn- glycerol 3-phosphate. Activity is inhibited by thimerosal. Lipid metabolism; phospholipid metabolism. Q86WV6:TMEM173; NbExp=2; IntAct=EBI-6116499, EBI-2800345; Q8VCW4:Unc93b1 (xeno); NbExp=2; IntAct=EBI-6116499, EBI-6116986; Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96N66-1; Sequence=Displayed; Name=2; IsoId=Q96N66-2; Sequence=VSP_030967; Name=3; IsoId=Q96N66-3; Sequence=VSP_030968; Overexpressed in metastatic breast and bladder carcinomas relative to normal breast epithelium and urothelium. Belongs to the membrane-bound acyltransferase family. Sequence=AAB37433.1; Type=Frameshift; Positions=63, 93, 144, 186; 1-acylglycerol-3-phosphate O-acyltransferase activity protein binding endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process phospholipid metabolic process phospholipid biosynthetic process membrane integral component of membrane transferase activity transferase activity, transferring acyl groups ventricular system development layer formation in cerebral cortex phosphatidylinositol acyl-chain remodeling ER-mitochondrion membrane contact site phosphatidylinositol metabolic process 2-acylglycerol-3-phosphate O-acyltransferase activity lysophospholipid acyltransferase activity uc032icm.1 uc032icm.2 uc032icm.3 
ENST00000245620.13 LILRB3 ENST00000245620.13 Homo sapiens leukocyte immunoglobulin like receptor B3 (LILRB3), transcript variant 1, mRNA. (from RefSeq NM_001081450) C9J1P3 C9JIP1 ENST00000245620.1 ENST00000245620.10 ENST00000245620.11 ENST00000245620.12 ENST00000245620.2 ENST00000245620.3 ENST00000245620.4 ENST00000245620.5 ENST00000245620.6 ENST00000245620.7 ENST00000245620.8 ENST00000245620.9 ILT5 LIR3 LIRB3_HUMAN NM_001081450 O15471 O75022 Q86U49 uc032icw.1 uc032icw.2 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF009642.1, AF009635.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2154529, SAMN01820687 [ECO:0000348] ##Evidence-Data-END## May act as receptor for class I MHC antigens. Becomes activated upon coligation of LILRB3 and immune receptors, such as FCGR2B and the B-cell receptor. Down-regulates antigen-induced B- cell activation by recruiting phosphatases to its immunoreceptor tyrosine-based inhibitor motifs (ITIM) (By similarity). Interacts with LYN, PTPN6/SHP-1 and PTPN11/SHP-2 (By similarity). Cell membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O75022-1; Sequence=Displayed; Name=2; IsoId=O75022-2; Sequence=VSP_008459; Note=No experimental confirmation available; Name=3; IsoId=O75022-3; Sequence=VSP_040126; Detected in monocytes and B-cells. Contains 3 copies of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2- containing phosphatases, including PTPN6/SHP-1, resulting in the dephosphorylation of the downstream protein kinases SYK and BTK (By similarity). Phosphorylated on tyrosine residues by LYN. Phosphorylation at Tyr-595 and Tyr-625 is important for interaction with PTPN6/SHP-1 and PTPN11/SHP-2 (By similarity). Belongs to the leukocyte receptor cluster (LRC) present on 19q13.4. Contains 4 Ig-like C2-type (immunoglobulin-like) domains. adaptive immune response immune system process transmembrane signaling receptor activity protein binding plasma membrane integral component of plasma membrane defense response cell surface receptor signaling pathway membrane integral component of membrane secretory granule membrane signaling receptor activity neutrophil degranulation negative regulation of osteoclast differentiation beta-amyloid binding uc032icw.1 uc032icw.2 
ENST00000245663.9 ZBTB46 ENST00000245663.9 Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), transcript variant 1, mRNA. (from RefSeq NM_001369741) BTBD4 E1P5K9 ENST00000245663.1 ENST00000245663.2 ENST00000245663.3 ENST00000245663.4 ENST00000245663.5 ENST00000245663.6 ENST00000245663.7 ENST00000245663.8 NM_001369741 Q5JWJ3 Q6GMV4 Q86UZ6 Q9BQK3 Q9H3Z8 Q9H3Z9 ZBT46_HUMAN ZNF340 uc061ypq.1 uc061ypq.2 Function as a transcriptional repressor for PRDM1 (By similarity). Nucleus (Potential). Sumoylated. Desumoylation by PPPDE2 reverses transcriptional repression activity (By similarity). Contains 1 BTB (POZ) domain. Contains 2 C2H2-type zinc fingers. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding nucleic acid binding nucleus regulation of transcription from RNA polymerase II promoter negative regulation of granulocyte differentiation negative regulation of macrophage differentiation negative regulation of monocyte differentiation metal ion binding negative regulation of dendritic cell differentiation positive regulation of dendritic cell differentiation uc061ypq.1 uc061ypq.2 
ENST00000245680.7 SLC35F5 ENST00000245680.7 Homo sapiens solute carrier family 35 member F5 (SLC35F5), transcript variant 2, non-coding RNA. (from RefSeq NR_104470) ENST00000245680.1 ENST00000245680.2 ENST00000245680.3 ENST00000245680.4 ENST00000245680.5 ENST00000245680.6 NR_104470 NS5ATP3 Q8WV83 Q9H6P8 Q9H7D8 S35F5_HUMAN UNQ2545/PRO6097 uc002tku.1 uc002tku.2 uc002tku.3 Putative solute transporter (Potential). Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8WV83-1; Sequence=Displayed; Name=2; IsoId=Q8WV83-2; Sequence=VSP_029665, VSP_029666, VSP_029667, VSP_029668; Note=No experimental confirmation available; Expressed in colorectal cancer cells. Belongs to the SLC35F solute transporter family. Contains 1 EamA domain. Sequence=BAB14954.1; Type=Erroneous initiation; membrane integral component of membrane uc002tku.1 uc002tku.2 uc002tku.3 
ENST00000245787.9 INSIG2 ENST00000245787.9 Homo sapiens insulin induced gene 2 (INSIG2), transcript variant 1, mRNA. (from RefSeq NM_016133) A8K5W8 ENST00000245787.1 ENST00000245787.2 ENST00000245787.3 ENST00000245787.4 ENST00000245787.5 ENST00000245787.6 ENST00000245787.7 ENST00000245787.8 INSI2_HUMAN NM_016133 Q8TBI8 Q9Y5U4 uc002tlk.1 uc002tlk.2 uc002tlk.3 uc002tlk.4 uc002tlk.5 The protein encoded by this gene is highly similar to the protein product encoded by gene INSIG1. Both INSIG1 protein and this protein are endoplasmic reticulum proteins that block the processing of sterol regulatory element binding proteins (SREBPs) by binding to SREBP cleavage-activating protein (SCAP), and thus prevent SCAP from escorting SREBPs to the Golgi. [provided by RefSeq, Jul 2008]. Mediates feedback control of cholesterol synthesis by controlling SCAP and HMGCR. Functions by blocking the processing of sterol regulatory element-binding proteins (SREBPs). Capable of retaining the SCAP-SREBF2 complex in the ER thus preventing it from escorting SREBPs to the Golgi. Seems to regulate the ubiquitin-mediated proteasomal degradation of HMGCR. Binds to the SCAP-SREBF2 complex only in the presence of sterols. Interacts with RNF139. Endoplasmic reticulum membrane; Multi-pass membrane protein. Does not require nuclear SREBPs for its expression. When nuclear SREBP activity is low, is the only form of INSIG present in the cell. Belongs to the INSIG family. Sequence=AAD43048.1; Type=Frameshift; Positions=221; protein binding endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process triglyceride metabolic process cholesterol biosynthetic process response to sterol depletion transcription factor binding steroid metabolic process cholesterol metabolic process negative regulation of steroid biosynthetic process membrane integral component of membrane sterol biosynthetic process response to insulin SREBP signaling pathway SREBP-SCAP-Insig complex response to lipid inner ear morphogenesis middle ear morphogenesis negative regulation of fatty acid biosynthetic process palate development cranial suture morphogenesis response to fatty acid uc002tlk.1 uc002tlk.2 uc002tlk.3 uc002tlk.4 uc002tlk.5 
ENST00000245796.11 PSD4 ENST00000245796.11 Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA. (from RefSeq NM_012455) A6NEG7 A8K1Y0 EFA6B ENST00000245796.1 ENST00000245796.10 ENST00000245796.2 ENST00000245796.3 ENST00000245796.4 ENST00000245796.5 ENST00000245796.6 ENST00000245796.7 ENST00000245796.8 ENST00000245796.9 NM_012455 O95621 PSD4_HUMAN Q4ZG34 Q6GPH8 Q8IYP4 Q8NDX1 TIC uc002tjc.1 uc002tjc.2 uc002tjc.3 uc002tjc.4 uc002tjc.5 Guanine nucleotide exchange factor for ARF6 and ARL14/ARF7. Through ARL14 activation, controls the movement of MHC class II-containing vesicles along the actin cytoskeleton in dendritic cells. Involved in membrane recycling. Interacts with several phosphatidylinositol phosphate species, including phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 3,5- bisphosphate and phosphatidylinositol 4,5-bisphosphate. Cell membrane. Note=Accumulates in dynamic actin-rich membrane ruffles and microvilli-like structures. Recruited to membranes via phosphatidylinositol phosphate-binding. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8NDX1-1; Sequence=Displayed; Name=2; IsoId=Q8NDX1-2; Sequence=VSP_020772, VSP_020773; Widely expressed. Highest levels of expression are found in placenta, pancreas, spleen, thymus and peripheral blood. Contains 1 PH domain. Contains 1 SEC7 domain. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/psd4/"; guanyl-nucleotide exchange factor activity ARF guanyl-nucleotide exchange factor activity protein binding phospholipid binding plasma membrane lipid binding membrane regulation of ARF protein signal transduction ruffle membrane cell projection cleavage furrow uc002tjc.1 uc002tjc.2 uc002tjc.3 uc002tjc.4 uc002tjc.5 
ENST00000245810.2 PSPN ENST00000245810.2 Homo sapiens persephin (PSPN), mRNA. (from RefSeq NM_004158) ENST00000245810.1 NM_004158 O60542 PSPN_HUMAN uc010xja.1 uc010xja.2 uc010xja.3 This gene encodes a secreted ligand of the GDNF (glial cell line-derived neurotrophic factor) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein signals through the RET receptor tyrosine kinase and a GPI-linked coreceptor, and promotes survival of neuronal populations. This protein may play a role in cell death, and nervous system development and function. Elevated expression of this gene has been observed in oral squamous cell carcinoma. [provided by RefSeq, Aug 2016]. ##Evidence-Data-START## Transcript exon combination :: AF040962.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Exhibits neurotrophic activity on mesencephalic dopaminergic and motor neurons. Homodimer; disulfide-linked (By similarity). Secreted. Belongs to the TGF-beta family. GDNF subfamily. MAPK cascade receptor binding extracellular region extracellular space nervous system development axon guidance central nervous system development growth factor activity uc010xja.1 uc010xja.2 uc010xja.3 
ENST00000245812.8 ALKBH7 ENST00000245812.8 Homo sapiens alkB homolog 7 (ALKBH7), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_032306) ABH7 ALKB7_HUMAN B2R4U9 ENST00000245812.1 ENST00000245812.2 ENST00000245812.3 ENST00000245812.4 ENST00000245812.5 ENST00000245812.6 ENST00000245812.7 NM_032306 Q53FF3 Q9BT30 SPATA11 UNQ6002/PRO34564 uc002meo.1 uc002meo.2 uc002meo.3 uc002meo.4 Probable dioxygenase that requires molecular oxygen, alpha-ketoglutarate and iron (By similarity). Binds 1 Fe(2+) ion per subunit (By similarity). Cytoplasm. Nucleus. Secreted (Potential). Note=Has a predicted N-terminal signal sequence, indicating it may be secreted. Detected in cytoplasm and nucleus when expressed as fusion protein with an N-terminal tag (PubMed:17979886). Widely expressed, with highest expression in pancreas, followed by spleen, prostate, ovary and placenta. Belongs to the alkB family. mitochondrion mitochondrial matrix fatty acid metabolic process cellular response to DNA damage stimulus regulation of lipid storage programmed cell death oxidoreductase activity metal ion binding dioxygenase activity oxidation-reduction process regulation of mitochondrial membrane permeability involved in programmed necrotic cell death uc002meo.1 uc002meo.2 uc002meo.3 uc002meo.4 
ENST00000245816.11 CLPP ENST00000245816.11 Homo sapiens caseinolytic mitochondrial matrix peptidase proteolytic subunit (CLPP), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_006012) B2R4W5 CLPP_HUMAN ENST00000245816.1 ENST00000245816.10 ENST00000245816.2 ENST00000245816.3 ENST00000245816.4 ENST00000245816.5 ENST00000245816.6 ENST00000245816.7 ENST00000245816.8 ENST00000245816.9 NM_006012 Q16740 uc002mem.1 uc002mem.2 uc002mem.3 uc002mem.4 The protein encoded by this gene belongs to the peptidase family S14 and hydrolyzes proteins into small peptides in the presence of ATP and magnesium. The protein is transported into mitochondrial matrix and is associated with the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.65598.1, DRR138522.66240.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000245816.11/ ENSP00000245816.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Clp cleaves peptides in various proteins in a process that requires ATP hydrolysis. Clp may be responsible for a fairly general and central housekeeping function rather than for the degradation of specific substrates. Hydrolysis of proteins to small peptides in the presence of ATP and magnesium. Alpha-casein is the usual test substrate. In the absence of ATP, only oligopeptides shorter than five residues are hydrolyzed (such as succinyl-Leu-Tyr-|-NHMec; and Leu-Tyr-Leu-|-Tyr-Trp, in which cleavage of the -Tyr-|-Leu- and -Tyr-|-Trp bonds also occurs). Tetradecamer that assembles into a two heptameric rings with a central cavity. Mitochondrion matrix. Predominantly expressed in skeletal muscle. Intermediate levels in heart, liver and pancreas. Low in brain, placenta, lung and kidney. Belongs to the peptidase S14 family. ATP-dependent peptidase activity serine-type endopeptidase activity protein binding mitochondrion mitochondrial matrix proteolysis misfolded or incompletely synthesized protein catabolic process peptidase activity serine-type peptidase activity endopeptidase Clp complex hydrolase activity identical protein binding ATPase binding protein homooligomerization proteolysis involved in cellular protein catabolic process uc002mem.1 uc002mem.2 uc002mem.3 uc002mem.4 
ENST00000245817.5 TNFSF9 ENST00000245817.5 Homo sapiens TNF superfamily member 9 (TNFSF9), mRNA. (from RefSeq NM_003811) ENST00000245817.1 ENST00000245817.2 ENST00000245817.3 ENST00000245817.4 NM_003811 P41273 Q2M3S2 TNFL9_HUMAN uc002mfh.1 uc002mfh.2 uc002mfh.3 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This transmembrane cytokine is a bidirectional signal transducer that acts as a ligand for TNFRSF9/4-1BB, which is a costimulatory receptor molecule in T lymphocytes. This cytokine and its receptor are involved in the antigen presentation process and in the generation of cytotoxic T cells. The receptor TNFRSF9/4-1BB is absent from resting T lymphocytes but rapidly expressed upon antigenic stimulation. The ligand encoded by this gene, TNFSF9/4-1BBL, has been shown to reactivate anergic T lymphocytes in addition to promoting T lymphocyte proliferation. This cytokine has also been shown to be required for the optimal CD8 responses in CD8 T cells. This cytokine is expressed in carcinoma cell lines, and is thought to be involved in T cell-tumor cell interaction.[provided by RefSeq, Oct 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.187091.1, U03398.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000245817.5/ ENSP00000245817.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Cytokine that binds to TNFRSF9. Induces the proliferation of activated peripheral blood T-cells. May have a role in activation-induced cell death (AICD). May play a role in cognate interactions between T-cells and B-cells/macrophages. Homotrimer. Membrane; Single-pass type II membrane protein. Expressed in brain, placenta, lung, skeletal muscle and kidney. Belongs to the tumor necrosis factor family. receptor binding cytokine activity tumor necrosis factor receptor binding extracellular space plasma membrane immune response cell-cell signaling membrane integral component of membrane tumor necrosis factor receptor superfamily binding tumor necrosis factor-mediated signaling pathway positive regulation of activated T cell proliferation regulation of T cell proliferation regulation of apoptotic process positive regulation of cytotoxic T cell differentiation uc002mfh.1 uc002mfh.2 uc002mfh.3 
ENST00000245838.13 THOC2 ENST00000245838.13 Homo sapiens THO complex 2 (THOC2), mRNA. (from RefSeq NM_001081550) A6NM50 CXorf3 ENST00000245838.1 ENST00000245838.10 ENST00000245838.11 ENST00000245838.12 ENST00000245838.2 ENST00000245838.3 ENST00000245838.4 ENST00000245838.5 ENST00000245838.6 ENST00000245838.7 ENST00000245838.8 ENST00000245838.9 NM_001081550 Q5JZ12 Q6IN92 Q8NI27 Q9H8I6 THOC2_HUMAN uc004etu.1 uc004etu.2 uc004etu.3 uc004etu.4 uc004etu.5 The TREX multiprotein complex binds specifically to spliced mRNAs to facilitate mRNA export. The protein encoded by this gene is a member of the THO complex, a subset of the TREX complex. The encoded protein interacts with the THOC1 protein.[provided by RefSeq, Jun 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660807.247482.1, SRR1660803.88229.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000245838.13/ ENSP00000245838.8 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Component of the THO subcomplex of the TREX complex. The TREX complex specifically associates with spliced mRNA and not with unspliced pre-mRNA. It is recruited to spliced mRNAs by a transcription-independent mechanism. Binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export. The recruitment occurs via an interaction between ALYREF/THOC4 and the cap-binding protein NCBP1. DDX39B functions as a bridge between ALYREF/THOC4 and the THO complex.The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. The recruitment of the TREX complex to the intronless viral mRNA occurs via an interaction between KSHV ORF57 protein and ALYREF/THOC4. Component of the THO complex, which is composed of THOC1, THOC2, THOC5, THOC6 and THOC7. Together with THOC3, ALYREF/THOC4 and DDX39B, THO forms the transcription/export (TREX) complex. Interacts with THOC1. Nucleus (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8NI27-1; Sequence=Displayed; Name=2; IsoId=Q8NI27-2; Sequence=VSP_008588; Note=No experimental confirmation available; Belongs to the THOC2 family. Sequence=AAM28436.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part; Sequence=BAB14630.1; Type=Erroneous initiation; Note=Translation N-terminally extended; transcription export complex THO complex THO complex part of transcription export complex RNA binding mRNA binding protein binding nucleus nucleoplasm mRNA processing RNA export from nucleus mRNA export from nucleus RNA splicing nuclear speck poly(A)+ mRNA export from nucleus mRNA 3'-end processing viral mRNA export from host cell nucleus neuron development generation of neurons mRNA transport nuclear chromosome, telomeric region uc004etu.1 uc004etu.2 uc004etu.3 uc004etu.4 uc004etu.5 
ENST00000245903.4 CD70 ENST00000245903.4 Homo sapiens CD70 molecule (CD70), transcript variant 1, mRNA. (from RefSeq NM_001252) CD27L CD27LG CD70_HUMAN ENST00000245903.1 ENST00000245903.2 ENST00000245903.3 NM_001252 P32970 Q96J57 TNFSF7 uc002mfi.1 uc002mfi.2 uc002mfi.3 uc002mfi.4 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF27/CD27. It is a surface antigen on activated, but not on resting, T and B lymphocytes. It induces proliferation of costimulated T cells, enhances the generation of cytolytic T cells, and contributes to T cell activation. This cytokine is also reported to play a role in regulating B-cell activation, cytotoxic function of natural killer cells, and immunoglobulin sythesis. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: L08096.1, SRR1163657.324732.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000245903.4/ ENSP00000245903.2 RefSeq Select criteria :: based on expression ##RefSeq-Attributes-END## Cytokine that binds to CD27. Plays a role in T-cell activation. Induces the proliferation of costimulated T-cells and enhances the generation of cytolytic T-cells. Homotrimer (Probable). Membrane; Single-pass type II membrane protein. Belongs to the tumor necrosis factor family. protease binding T cell mediated immunity receptor binding cytokine activity tumor necrosis factor receptor binding protein binding extracellular space plasma membrane integral component of plasma membrane immune response signal transduction cell-cell signaling membrane integral component of membrane B cell mediated immunity tumor necrosis factor-mediated signaling pathway B cell proliferation positive regulation of T cell proliferation extracellular exosome extrinsic apoptotic signaling pathway uc002mfi.1 uc002mfi.2 uc002mfi.3 uc002mfi.4 
ENST00000245907.11 C3 ENST00000245907.11 Homo sapiens complement C3 (C3), mRNA. (from RefSeq NM_000064) ENST00000245907.1 ENST00000245907.10 ENST00000245907.2 ENST00000245907.3 ENST00000245907.4 ENST00000245907.5 ENST00000245907.6 ENST00000245907.7 ENST00000245907.8 ENST00000245907.9 NM_000064 V9HWA9 uc002mfm.1 uc002mfm.2 uc002mfm.3 uc002mfm.4 uc002mfm.5 Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC150299.1, SRR1660807.97673.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN04284274 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000245907.11/ ENSP00000245907.4 Protein has antimicrobial activity :: PMID: 15550543 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## uc002mfm.1 uc002mfm.2 uc002mfm.3 uc002mfm.4 uc002mfm.5 
ENST00000245908.11 SH2D3A ENST00000245908.11 Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA. (from RefSeq NM_005490) A8K9R6 ENST00000245908.1 ENST00000245908.10 ENST00000245908.2 ENST00000245908.3 ENST00000245908.4 ENST00000245908.5 ENST00000245908.6 ENST00000245908.7 ENST00000245908.8 ENST00000245908.9 NM_005490 NSP1 Q9BRG2 Q9Y2X4 SH23A_HUMAN UNQ175/PRO201 uc002mft.1 uc002mft.2 uc002mft.3 uc002mft.4 uc002mft.5 May play a role in JNK activation. Interacts with BCAR1. Weakly expressed in placenta, fetal kidney, fetal lung, adult pancreas, adult kidney and adult lung. Phosphorylated on tyrosine. Contains 1 SH2 domain. SH3/SH2 adaptor activity guanyl-nucleotide exchange factor activity protein binding JNK cascade small GTPase mediated signal transduction positive regulation of signal transduction positive regulation of peptidyl-serine phosphorylation uc002mft.1 uc002mft.2 uc002mft.3 uc002mft.4 uc002mft.5 
ENST00000245932.11 VASP ENST00000245932.11 Homo sapiens vasodilator stimulated phosphoprotein (VASP), mRNA. (from RefSeq NM_003370) B2RBT9 ENST00000245932.1 ENST00000245932.10 ENST00000245932.2 ENST00000245932.3 ENST00000245932.4 ENST00000245932.5 ENST00000245932.6 ENST00000245932.7 ENST00000245932.8 ENST00000245932.9 NM_003370 P50552 Q6PIZ1 Q93035 VASP_HUMAN uc002pcg.1 uc002pcg.2 uc002pcg.3 uc002pcg.4 uc002pcg.5 Vasodilator-stimulated phosphoprotein (VASP) is a member of the Ena-VASP protein family. Ena-VASP family members contain an EHV1 N-terminal domain that binds proteins containing E/DFPPPPXD/E motifs and targets Ena-VASP proteins to focal adhesions. In the mid-region of the protein, family members have a proline-rich domain that binds SH3 and WW domain-containing proteins. Their C-terminal EVH2 domain mediates tetramerization and binds both G and F actin. VASP is associated with filamentous actin formation and likely plays a widespread role in cell adhesion and motility. VASP may also be involved in the intracellular signaling pathways that regulate integrin-extracellular matrix interactions. VASP is regulated by the cyclic nucleotide-dependent kinases PKA and PKG. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC038224.1, SRR3476690.753827.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000245932.11/ ENSP00000245932.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance, lamellipodial and filopodial dynamics, platelet activation and cell migration. VASP promotes actin filament elongation. It protects the barbed end of growing actin filaments against capping and increases the rate of actin polymerization in the presence of capping protein. VASP stimulates actin filament elongation by promoting the transfer of profilin- bound actin monomers onto the barbed end of growing actin filaments. Plays a role in actin-based mobility of Listeria monocytogenes in host cells. Regulates actin dynamics in platelets and plays an important role in regulating platelet aggregation. Homotetramer. Interacts with PFN1, PFN2, LPP, ACTN1 and ACTG1. Interacts, via the EVH1 domain, with the Pro-rich regions of ZYX. This interaction is important for targeting to focal adhesions and the formation of actin-rich structures at the apical surface of cells. Interacts, via the EVH1 domain, with the Pro- rich domain of Listeria monocytogenes actA. Interacts with APBB1IP. Interacts, via the Pro-rich domain, with the C-terminal SH3 domain of DNMBP (By similarity). P22736:NR4A1; NbExp=2; IntAct=EBI-748201, EBI-721550; Q15418:RPS6KA1; NbExp=4; IntAct=EBI-748201, EBI-963034; P12003:VCL (xeno); NbExp=2; IntAct=EBI-748201, EBI-1039563; Cytoplasm. Cytoplasm, cytoskeleton. Cell junction, focal adhesion. Cell projection, lamellipodium membrane. Cell projection, filopodium membrane. Note=Targeted to stress fibers and focal adhesions through interaction with a number of proteins including MRL family members. Localizes to the plasma membrane in protruding lamellipodia and filopodial tips. Stimulation by thrombin or PMA, also translocates VASP to focal adhesions. Localized along the sides of actin filaments throughout the peripheral cytoplasm under basal conditions. Highly expressed in platelets. The EVH2 domain is comprised of 3 regions. Block A is a thymosin-like domain required for G-actin binding. The KLKR motif within this block is essential for the G-actin binding and for actin polymerization. Block B is required for F-actin binding and subcellular location, and Block C for tetramerization. The WH1 domain mediates interaction with XIRP1. Major substrate for cAMP-dependent (PKA) and cGMP-dependent protein kinase (PKG) in platelets. The preferred site for PKA is Ser-157, the preferred site for PKG/PRKG1, Ser-239. In ADP- activated platelets, phosphorylation by PKA or PKG on Ser-157 leads to fibrinogen receptor inhibition. Phosphorylation on Thr- 278 requires prior phosphorylation on Ser-157 and Ser-239. In response to phorbol ester (PMA) stimulation, phosphorylated by PKC/PRKCA. In response to thrombin, phosphorylated by both PKC and ROCK1. Phosphorylation at Thr-278 by AMPK does not require prior phosphorylation at Ser-157 or Ser-239. Phosphorylation modulates F-actin binding, actin filament elongation and platelet activation. Phosphorylation at Ser-322 by AMPK also alters actin filament binding. Carbon monoxide (CO) promotes phosphorylation at Ser-157, while nitric oxide (NO) promotes phosphorylation at Ser- 157, but also at Ser-239. Response to NO and CO is blunted in platelets from diabetic patients, and VASP is not phosphorylated efficiently at Ser-157 and Ser-239. VASP phosphorylation is used to monitor the effect of so-called antiplatelet drugs that reduce platelet reactivity and are used to prevent stent thrombosis, strokes and heart attacks in patients at risk for these problems. Belongs to the Ena/VASP family. Contains 1 WH1 domain. neural tube closure actin binding protein binding profilin binding cytoplasm cytosol cytoskeleton plasma membrane bicellular tight junction focal adhesion axon guidance actin polymerization or depolymerization actin cytoskeleton membrane SH3 domain binding lamellipodium actin cytoskeleton organization cell junction filopodium positive regulation of actin filament polymerization lamellipodium membrane filopodium membrane cell junction assembly cell projection cadherin binding protein homotetramerization extracellular exosome uc002pcg.1 uc002pcg.2 uc002pcg.3 uc002pcg.4 uc002pcg.5 
ENST00000245934.12 SYMPK ENST00000245934.12 Homo sapiens symplekin (SYMPK), mRNA. (from RefSeq NM_004819) ENST00000245934.1 ENST00000245934.10 ENST00000245934.11 ENST00000245934.2 ENST00000245934.3 ENST00000245934.4 ENST00000245934.5 ENST00000245934.6 ENST00000245934.7 ENST00000245934.8 ENST00000245934.9 NM_004819 O00521 O00689 O00733 Q59GT5 Q8N2U5 Q92797 SPK SYMPK_HUMAN uc002pdn.1 uc002pdn.2 uc002pdn.3 uc002pdn.4 uc002pdn.5 This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK300252.1, Y10931.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000245934.12/ ENSP00000245934.7 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Heat-labile component of a multimolecular complex that function in histone mRNA 3'-end processing. Specific component of the tight junction (TJ) plaque, but might not be an exclusively junctional component. May have a house-keeping rule. May be required for pre-mRNA polyadenylation. Found in a heat-sensitive complex at least composed of several cleavage and polyadenylation specific and cleavage stimulation factors. Interacts with CPSF2, CPSF3 and CSTF2. Interacts with HSF1 in heat-stressed cells. Cytoplasm, cytoskeleton. Cell junction, tight junction. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction. Nucleus, nucleoplasm. Note=Cytoplasmic face of adhesion plaques (major) and nucleoplasm (minor) (in cells with TJ). Nucleoplasm (in cells without TJ). Nuclear bodies of heat-stressed cells. Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms seem to exist; Name=1; IsoId=Q92797-1; Sequence=Displayed; Name=2; IsoId=Q92797-2; Sequence=VSP_014842, VSP_014843; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available; In testis, expressed in polar epithelia and Sertoli cells but not in vascular endothelia. The protein is detected in stomach, duodenum, pancreas, liver, fetal brain, carcinomas, lens-forming cells, fibroblasts, lymphocytes, lymphoma cells, erythroleukemia cells but not in endothelium of vessels, epidermis, intercalated disks, Purkinje fiber cells of the heart and lymph node. Could be used as a differentiation marker in the differential diagnosis of tumors. Sequence=AAC50667.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH30214.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAD92261.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAA71861.1; Type=Frameshift; Positions=67; mRNA splicing, via spliceosome protein binding nucleus nucleoplasm cytoplasm cytosol cytoskeleton plasma membrane bicellular tight junction termination of RNA polymerase II transcription mRNA polyadenylation mRNA processing mRNA export from nucleus cell adhesion membrane cell junction mRNA 3'-end processing negative regulation of protein binding positive regulation of protein dephosphorylation nuclear stress granule uc002pdn.1 uc002pdn.2 uc002pdn.3 uc002pdn.4 uc002pdn.5 
ENST00000245957.10 CFAP61 ENST00000245957.10 Homo sapiens cilia and flagella associated protein 61 (CFAP61), transcript variant 1, mRNA. (from RefSeq NM_015585) A6NHA1 C20orf26 CT026_HUMAN ENST00000245957.1 ENST00000245957.2 ENST00000245957.3 ENST00000245957.4 ENST00000245957.5 ENST00000245957.6 ENST00000245957.7 ENST00000245957.8 ENST00000245957.9 NM_015585 Q5JXV4 Q5TE18 Q8N5R9 Q8NHU2 Q96M59 Q9BQL2 Q9H127 Q9H128 Q9NQH4 Q9UFV8 Q9Y4V7 uc002wru.1 uc002wru.2 uc002wru.3 uc002wru.4 uc002wru.5 Event=Alternative splicing; Named isoforms=5; Comment=Experimental confirmation may be lacking for some isoforms; Name=1; IsoId=Q8NHU2-1; Sequence=Displayed; Name=3; IsoId=Q8NHU2-3; Sequence=VSP_003799, VSP_003800; Name=4; IsoId=Q8NHU2-4; Sequence=VSP_003798; Name=5; IsoId=Q8NHU2-5; Sequence=VSP_003802, VSP_003803, VSP_003804; Note=Created from a fragment entry and may await further characterization; Name=6; IsoId=Q8NHU2-6; Sequence=VSP_003802, VSP_013682, VSP_013683; Note=Ref.1 (BAB71452) sequence is in conflict in position: 123:L->P; Sequence=CAI42114.1; Type=Erroneous gene model prediction; cilium movement cytoplasm cytoskeleton axoneme motile cilium cell projection cilium organization radial spoke stalk uc002wru.1 uc002wru.2 uc002wru.3 uc002wru.4 uc002wru.5 
ENST00000245960.10 CDC25B ENST00000245960.10 Homo sapiens cell division cycle 25B (CDC25B), transcript variant 1, mRNA. (from RefSeq NM_021873) CDC25HU2 D3DVY1 D3DVY2 D3DVY3 D3DVY4 ENST00000245960.1 ENST00000245960.2 ENST00000245960.3 ENST00000245960.4 ENST00000245960.5 ENST00000245960.6 ENST00000245960.7 ENST00000245960.8 ENST00000245960.9 MPIP2_HUMAN NM_021873 O43551 P30305 Q13971 Q5JX77 Q6RSS1 Q9BRA6 uc002wjn.1 uc002wjn.2 uc002wjn.3 uc002wjn.4 uc002wjn.5 uc002wjn.6 CDC25B is a member of the CDC25 family of phosphatases. CDC25B activates the cyclin dependent kinase CDC2 by removing two phosphate groups and it is required for entry into mitosis. CDC25B shuttles between the nucleus and the cytoplasm due to nuclear localization and nuclear export signals. The protein is nuclear in the M and G1 phases of the cell cycle and moves to the cytoplasm during S and G2. CDC25B has oncogenic properties, although its role in tumor formation has not been determined. Multiple transcript variants for this gene exist. [provided by RefSeq, Jul 2008]. Tyrosine protein phosphatase which functions as a dosage-dependent inducer of mitotic progression. Required for G2/M phases of the cell cycle progression and abscission during cytokinesis in a ECT2-dependent manner. Directly dephosphorylates CDK1 and stimulates its kinase activity. The three isoforms seem to have a different level of activity. Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate. Stimulated by B-type cyclins. Interacts with MAPK14 and 14-3-3 proteins. Cytoplasm, cytoskeleton, centrosome. Cytoplasm, cytoskeleton, spindle pole. Event=Alternative splicing; Named isoforms=4; Name=3; Synonyms=CDC25B3; IsoId=P30305-1; Sequence=Displayed; Name=1; Synonyms=CDC25B1; IsoId=P30305-2; Sequence=VSP_000861; Name=2; Synonyms=CDC25B2; IsoId=P30305-3; Sequence=VSP_000862; Name=4; IsoId=P30305-4; Sequence=VSP_000861, VSP_012587; Note=No experimental confirmation available; Phosphorylated by BRSK1 in vitro. Phosphorylated by CHEK1, which inhibits the activity of this protein. Phosphorylation at Ser-353 by AURKA might locally participate in the control of the onset of mitosis. Phosphorylation by MELK at Ser-169 promotes localization to the centrosome and the spindle poles during mitosis. Phosphorylation at Ser-323 and Ser-375 by MAPK14 is required for binding to 14-3-3 proteins. Belongs to the MPI phosphatase family. Contains 1 rhodanese domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cdc25b/"; G2/M transition of mitotic cell cycle mitotic cell cycle spindle pole oocyte maturation phosphoprotein phosphatase activity protein tyrosine phosphatase activity protein binding nucleus nucleoplasm cytoplasm centrosome microtubule organizing center cytosol cytoskeleton protein phosphorylation protein dephosphorylation cell cycle female meiosis I positive regulation of cell proliferation positive regulation of G2/M transition of mitotic cell cycle hydrolase activity protein kinase binding positive regulation of cytokinesis peptidyl-tyrosine dephosphorylation positive regulation of protein kinase activity positive regulation of mitotic cell cycle cell division positive regulation of cell cycle G2/M phase transition uc002wjn.1 uc002wjn.2 uc002wjn.3 uc002wjn.4 uc002wjn.5 uc002wjn.6 
ENST00000245983.6 GNRH2 ENST00000245983.6 Homo sapiens gonadotropin releasing hormone 2 (GNRH2), transcript variant 1, mRNA. (from RefSeq NM_001501) ENST00000245983.1 ENST00000245983.2 ENST00000245983.3 ENST00000245983.4 ENST00000245983.5 GON2_HUMAN NM_001501 O43555 Q14C68 Q14C69 Q9BYN9 Q9BYP0 uc002whr.1 uc002whr.2 This gene is a member of the gonadotropin-releasing hormone (GnRH) gene family. Proteins encoded by members of this gene family are proteolytically cleaved to form neuropeptides which, in part, regulate reproductive functions by stimulating the production and release of the gonadotropins follicle-stimulating hormone (FSH) and luteinizing hormone (LH). The human GNRH2 gene is predicted to encode a preproprotein from which a mature neuropeptide of 10 amino acids is cleaved. However, while the human genome retains the sequence for a functional GNRH2 decapeptide, translation of the human GNRH2 gene has not yet been demonstrated and the GNRH2 gene of chimpanzees, gorilla, and Sumatran orangutan have a premature stop at codon eight of the decapeptide sequence which suggests GNRH2 was a pseudogene in the hominid lineage. The GNRH2 gene is also believed to be a pseudogene in many other mammalian species such as mouse and cow. The receptor for this gene (GNRHR2) is predicted to be a pseudogene in human as well as many other mammalian species. The closely related GNRH1 and GNRHR1 genes are functional in human and other mammals and are generally functional in vertebrates. [provided by RefSeq, Mar 2019]. Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones. Secreted. Event=Alternative splicing; Named isoforms=3; Comment=Experimental confirmation may be lacking for some isoforms; Name=1; IsoId=O43555-1; Sequence=Displayed; Name=2; IsoId=O43555-2; Sequence=VSP_001825; Name=3; IsoId=O43555-3; Sequence=VSP_001826; Midbrain; expressed at significantly higher levels outside the brain (up to 30-fold), particularly in the kidney, bone marrow and prostate. Belongs to the GnRH family. reproduction hormone activity gonadotropin hormone-releasing hormone activity extracellular region extracellular space signal transduction G-protein coupled receptor signaling pathway multicellular organism development gonadotropin-releasing hormone receptor binding uc002whr.1 uc002whr.2 
ENST00000246006.5 CD93 ENST00000246006.5 Homo sapiens CD93 molecule (CD93), mRNA. (from RefSeq NM_012072) C1QR1 C1QR1_HUMAN ENST00000246006.1 ENST00000246006.2 ENST00000246006.3 ENST00000246006.4 MXRA4 NM_012072 O00274 Q9NPY3 uc002wsv.1 uc002wsv.2 uc002wsv.3 uc002wsv.4 uc002wsv.5 The protein encoded by this gene is a cell-surface glycoprotein and type I membrane protein that was originally identified as a myeloid cell-specific marker. The encoded protein was once thought to be a receptor for C1q, but now is thought to instead be involved in intercellular adhesion and in the clearance of apoptotic cells. The intracellular cytoplasmic tail of this protein has been found to interact with moesin, a protein known to play a role in linking transmembrane proteins to the cytoskeleton and in the remodelling of the cytoskeleton. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660809.198432.1, AB209895.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2153307 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246006.5/ ENSP00000246006.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor (or element of a larger receptor complex) for C1q, mannose-binding lectin (MBL2) and pulmonary surfactant protein A (SPA). May mediate the enhancement of phagocytosis in monocytes and macrophages upon interaction with soluble defense collagens. May play a role in intercellular adhesion. Interacts with HCV core protein. Membrane; Single-pass type I membrane protein. Highly expressed in endothelial cells, platelets, cells of myeloid origin, such as monocytes and neutrophils. Not expressed in cells of lymphoid origin. N- and O-glycosylated. Contains 1 C-type lectin domain. Contains 5 EGF-like domains. Has been sometimes referred to as a collectin receptor. PubMed:11994479 reported that C1q is not a ligand for C1QR1. complement component C1q binding calcium ion binding protein binding plasma membrane phagocytosis cell adhesion cell surface membrane integral component of membrane viral process carbohydrate binding secretory granule membrane cytoplasmic vesicle specific granule membrane signaling receptor activity macrophage activation neutrophil degranulation transforming growth factor beta binding tertiary granule membrane cell-cell adhesion ficolin-1-rich granule membrane uc002wsv.1 uc002wsv.2 uc002wsv.3 uc002wsv.4 uc002wsv.5 
ENST00000246012.2 CST8 ENST00000246012.2 Homo sapiens cystatin 8 (CST8), transcript variant 1, mRNA. (from RefSeq NM_005492) CRES CST8_HUMAN ENST00000246012.1 NM_005492 O60676 Q2M2X6 uc002wth.1 uc002wth.2 uc002wth.3 uc002wth.4 The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein similar to type 2 cystatins. The encoded protein exhibits highly tissue-specific expression in the reproductive tract, suggesting implicit roles in reproduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. Performs a specialized role during sperm development and maturation. Secreted. Proximal caput region of the epididymis. Lower expression in the testis. Within the testis it is localized to the elongating spermatids, whereas within the epididymis it is exclusively synthesized by the proximal caput epithelium. Belongs to the cystatin family. cysteine-type endopeptidase inhibitor activity extracellular region cytoplasm cell surface negative regulation of peptidase activity negative regulation of endopeptidase activity peptidase inhibitor activity uc002wth.1 uc002wth.2 uc002wth.3 uc002wth.4 
ENST00000246020.3 CSTL1 ENST00000246020.3 Secreted (Potential). (from UniProt Q9H114) AY707749 CST1L_HUMAN ENST00000246020.1 ENST00000246020.2 Q17RA8 Q64FF7 Q9H114 uc061vvp.1 uc061vvp.2 Secreted (Potential). Belongs to the cystatin family. cysteine-type endopeptidase inhibitor activity extracellular region negative regulation of peptidase activity negative regulation of endopeptidase activity peptidase inhibitor activity uc061vvp.1 uc061vvp.2 
ENST00000246024.7 TMX4 ENST00000246024.7 Homo sapiens thioredoxin related transmembrane protein 4 (TMX4), mRNA. (from RefSeq NM_021156) ENST00000246024.1 ENST00000246024.2 ENST00000246024.3 ENST00000246024.4 ENST00000246024.5 ENST00000246024.6 KIAA1162 NM_021156 PSEC0095 Q8N4P7 Q8NCC1 Q9H1E5 Q9UJA1 Q9ULQ8 TMX4_HUMAN TXNDC13 UNQ475/PRO938 uc002wmx.1 uc002wmx.2 uc002wmx.3 This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and C-terminal ASP/GLU-rich calcium binding domain. Unlike most members of this gene family, it lacks a C-terminal ER-retention sequence. The encoded protein has been shown to have reductase activity in vitro. [provided by RefSeq, Jan 2017]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1660807.203715.1, SRR1803617.59751.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246024.7/ ENSP00000246024.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Membrane; Single-pass type I membrane protein (Potential). Contains 1 thioredoxin domain. Sequence=CAB56344.1; Type=Erroneous initiation; nuclear inner membrane membrane integral component of membrane cell redox homeostasis oxidation-reduction process uc002wmx.1 uc002wmx.2 uc002wmx.3 
ENST00000246069.12 DSTN ENST00000246069.12 Homo sapiens destrin, actin depolymerizing factor (DSTN), transcript variant 1, mRNA. (from RefSeq NM_006870) ENST00000246069.1 ENST00000246069.10 ENST00000246069.11 ENST00000246069.2 ENST00000246069.3 ENST00000246069.4 ENST00000246069.5 ENST00000246069.6 ENST00000246069.7 ENST00000246069.8 ENST00000246069.9 NM_006870 V9HWA6 uc002wpr.1 uc002wpr.2 uc002wpr.3 uc002wpr.4 uc002wpr.5 The product of this gene belongs to the actin-binding proteins ADF family. This family of proteins is responsible for enhancing the turnover rate of actin in vivo. This gene encodes the actin depolymerizing protein that severs actin filaments (F-actin) and binds to actin monomers (G-actin). Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. uc002wpr.1 uc002wpr.2 uc002wpr.3 uc002wpr.4 uc002wpr.5 
ENST00000246070.3 LAMP5 ENST00000246070.3 Homo sapiens lysosomal associated membrane protein family member 5 (LAMP5), transcript variant 1, mRNA. (from RefSeq NM_012261) B4DHZ7 B7Z9Z9 C20orf103 ENST00000246070.1 ENST00000246070.2 LAMP5_HUMAN NM_012261 Q9UJQ1 uc002wni.1 uc002wni.2 uc002wni.3 uc002wni.4 Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Single-pass type I membrane protein. Endosome membrane; Single-pass type I membrane protein. Cytoplasmic vesicle (By similarity). Cell projection, dendrite (By similarity). Cell projection, growth cone membrane; Single-pass type I membrane protein (By similarity). Early endosome membrane; Single-pass type I membrane protein (By similarity). Recycling endosome (By similarity). Note=Localized mostly in cytoplasmic vesicles of neuronal cell body. Recycles from the vesicles of the endocytic recycling compartment (ERC) to the plasma membrane (By similarity). Colocalizes with UNC93B1 in large endosomal intracellular vesicles. Accumulates in the endoplasmic reticulum- Golgi intermediate compartment (ERGIC) before its disappearance upon activation by CpG dinucleotides. Associates with cortical membranes. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UJQ1-1; Sequence=Displayed; Name=2; IsoId=Q9UJQ1-2; Sequence=VSP_037186; Expressed in plasmocytoid dendritic cells. Expressed in suprabasal skin keratinocytes and squamous cells (at protein level). Expressed in the brain and weakly in spleen and skin. Expressed in plasmocytoid dendritic cells. Up-regulated upon CpG dinucleotides activation. Down- regulated upon activation by Toll-like receptor (TLR) ligands. Glycosylated (By similarity). Appears to be a novel specific biomarker for blastic plasmocytoid dendritic cells neoplasia (PubMed:21642595). Belongs to the LAMP family. lysosome lysosomal membrane endosome late endosome plasma membrane endosome membrane membrane integral component of membrane cell junction dendrite cytoplasmic vesicle membrane synaptic vesicle membrane cytoplasmic vesicle early endosome membrane late endosome membrane growth cone membrane dendrite membrane endoplasmic reticulum-Golgi intermediate compartment membrane cell projection synapse recycling endosome recycling endosome membrane establishment of protein localization to organelle uc002wni.1 uc002wni.2 uc002wni.3 uc002wni.4 
ENST00000246071.8 SNRPB2 ENST00000246071.8 Homo sapiens small nuclear ribonucleoprotein polypeptide B2 (SNRPB2), transcript variant 2, mRNA. (from RefSeq NM_198220) B2R7J3 D3DW21 ENST00000246071.1 ENST00000246071.2 ENST00000246071.3 ENST00000246071.4 ENST00000246071.5 ENST00000246071.6 ENST00000246071.7 NM_198220 P08579 Q9UJD4 RU2B_HUMAN uc002wph.1 uc002wph.2 uc002wph.3 uc002wph.4 The protein encoded by this gene associates with stem loop IV of U2 small nuclear ribonucleoprotein (U2 snRNP) in the presence of snRNP-A'. The encoded protein may play a role in pre-mRNA splicing. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. Involved in pre-mRNA splicing. This protein is associated with snRNP U2. It binds stem loop IV of U2 snRNA only in presence of the U2A' protein. Identified in the spliceosome C complex. Present in a spliceosome complex assembled in vitro, and composed of SNRPB2, HPRP8BP and CRNKL1. Nucleus. Patients with systemic lupus erythematosus produce antibodies which interact with snRNP proteins. Belongs to the RRM U1 A/B'' family. Contains 2 RRM (RNA recognition motif) domains. mRNA splicing, via spliceosome fibrillar center nucleic acid binding RNA binding protein binding nucleus nucleoplasm spliceosomal complex U1 snRNP U2 snRNP mRNA processing RNA splicing nuclear speck small nuclear ribonucleoprotein complex U1 snRNA binding snRNP binding U2-type precatalytic spliceosome U2-type catalytic step 2 spliceosome catalytic step 2 spliceosome uc002wph.1 uc002wph.2 uc002wph.3 uc002wph.4 
ENST00000246080.4 TCF15 ENST00000246080.4 Homo sapiens transcription factor 15 (TCF15), mRNA. (from RefSeq NM_004609) BHLHA40 BHLHEC2 ENST00000246080.1 ENST00000246080.2 ENST00000246080.3 NM_004609 Q12870 Q9NQQ1 TCF15_HUMAN uc002wdz.1 uc002wdz.2 uc002wdz.3 uc002wdz.4 uc002wdz.5 The protein encoded by this gene is found in the nucleus and may be involved in the early transcriptional regulation of patterning of the mesoderm. The encoded basic helix-loop-helix protein requires dimerization with another basic helix-loop-helix protein for efficient DNA binding. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BC067836.1, U08336.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2142363 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May function as an early transcriptional regulator, involved in the patterning of the mesoderm and in lineage determination of cell types derived from the mesoderm. Efficient DNA binding requires dimerization with another bHLH protein (By similarity). Nucleus (By similarity). Contains 1 bHLH (basic helix-loop-helix) domain. nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding somitogenesis respiratory system process DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription from RNA polymerase II promoter multicellular organism development mesoderm development muscle organ development anterior/posterior pattern specification regulation of gene expression post-anal tail morphogenesis eating behavior ear development skin development establishment of epithelial cell apical/basal polarity positive regulation of transcription from RNA polymerase II promoter protein dimerization activity paraxial mesoderm development muscle organ morphogenesis skeletal system morphogenesis neuromuscular process controlling posture mesenchymal to epithelial transition RNA polymerase II transcription factor complex regulation of extracellular matrix organization uc002wdz.1 uc002wdz.2 uc002wdz.3 uc002wdz.4 uc002wdz.5 
ENST00000246081.3 OTOR ENST00000246081.3 Homo sapiens otoraplin (OTOR), mRNA. (from RefSeq NM_020157) D3DW22 ENST00000246081.1 ENST00000246081.2 FDP MIAL NM_020157 OTOR_HUMAN Q3MIU6 Q9NRC9 UNQ3054/PRO9873 uc002wpj.1 uc002wpj.2 uc002wpj.3 uc002wpj.4 uc002wpj.5 uc002wpj.6 This gene encodes a member of the melanoma-inhibiting activity gene family. The encoded protein is secreted via the Golgi apparatus and may function in cartilage development and maintenance. A frequent polymorphism in the translation start codon of this gene can abolish translation and may be associated with forms of deafness. [provided by RefSeq, Jul 2013]. ##Evidence-Data-START## Transcript exon combination :: AJ242552.1, AF243505.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246081.3/ ENSP00000246081.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Secreted (Potential). Highly expressed in cochlea. Belongs to the MIA/OTOR family. Contains 1 SH3 domain. cartilage condensation extracellular region sensory perception of sound uc002wpj.1 uc002wpj.2 uc002wpj.3 uc002wpj.4 uc002wpj.5 uc002wpj.6 
ENST00000246104.7 SCRT2 ENST00000246104.7 Homo sapiens scratch family transcriptional repressor 2 (SCRT2), mRNA. (from RefSeq NM_033129) ENST00000246104.1 ENST00000246104.2 ENST00000246104.3 ENST00000246104.4 ENST00000246104.5 ENST00000246104.6 FP7030 NM_033129 Q9NQ03 SCRT2_HUMAN uc002wec.1 uc002wec.2 uc002wec.3 uc002wec.4 May be involved in transcriptional regulation. Nucleus (Potential). Belongs to the snail C2H2-type zinc-finger protein family. Contains 5 C2H2-type zinc fingers. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated metal ion binding E-box binding negative regulation of extrinsic apoptotic signaling pathway via death domain receptors regulation of neuron migration uc002wec.1 uc002wec.2 uc002wec.3 uc002wec.4 
ENST00000246105.4 DEFB129 ENST00000246105.4 Homo sapiens defensin beta 129 (DEFB129), mRNA. (from RefSeq NM_080831) C20orf87 DB129_HUMAN DEFB29 ENST00000246105.1 ENST00000246105.2 ENST00000246105.3 NM_080831 Q8NES7 Q9H1M3 UNQ5794/PRO19599 uc002wda.1 uc002wda.2 uc002wda.3 Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.366842.1, GQ891507.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246105.4/ ENSP00000246105.4 Protein has antimicrobial activity :: PMID: 12620395 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Has antibacterial activity (Potential). Secreted (Potential). Expressed specifically in testis. Belongs to the beta-defensin family. extracellular region defense response defense response to bacterium innate immune response uc002wda.1 uc002wda.2 uc002wda.3 
ENST00000246115.5 S1PR4 ENST00000246115.5 Homo sapiens sphingosine-1-phosphate receptor 4 (S1PR4), mRNA. (from RefSeq NM_003775) D6W612 EDG6 ENST00000246115.1 ENST00000246115.2 ENST00000246115.3 ENST00000246115.4 NM_003775 O95977 S1PR4_HUMAN uc002lxg.1 uc002lxg.2 uc002lxg.3 uc002lxg.4 uc002lxg.5 This gene is a member of the endothelial differentiation, G-protein-coupled (EDG)) receptor gene family. EDG receptors bind lysophospholipids or lysosphingolipids as ligands, and are involved in cell signalling in many different cell types. This EDG receptor gene is intronless and is specifically expressed in the lymphoid tissue. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC014970.1, SRR1163655.348672.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246115.5/ ENSP00000246115.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for the lysosphingolipid sphingosine 1- phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effect on most types of cells and tissues. May be involved in cell migration processes that are specific for lymphocytes. Cell membrane; Multi-pass membrane protein. Specifically expressed in fetal and adult lymphoid and hematopoietic tissue as well as in lung. Considerable level of expression in adult and fetal spleen as well as adult peripheral leukocytes and lung. Lower expression in adult thymus, lymph node, bone marrow, and appendix as well as in fetal liver, thymus, and lung. Belongs to the G-protein coupled receptor 1 family. sphingosine-1-phosphate signaling pathway G-protein coupled receptor activity mitochondrion plasma membrane integral component of plasma membrane immune response signal transduction G-protein coupled receptor signaling pathway adenylate cyclase-activating G-protein coupled receptor signaling pathway activation of phospholipase C activity positive regulation of cytosolic calcium ion concentration lipid binding membrane integral component of membrane sphingosine-1-phosphate receptor activity uc002lxg.1 uc002lxg.2 uc002lxg.3 uc002lxg.4 uc002lxg.5 
ENST00000246117.9 NCLN ENST00000246117.9 Homo sapiens nicalin (NCLN), transcript variant 1, mRNA. (from RefSeq NM_020170) D6W613 ENST00000246117.1 ENST00000246117.2 ENST00000246117.3 ENST00000246117.4 ENST00000246117.5 ENST00000246117.6 ENST00000246117.7 ENST00000246117.8 NCLN_HUMAN NM_020170 O75252 Q6FI60 Q6ZMB7 Q8TAT7 Q969V3 Q96H48 Q96IS7 Q9BQH9 Q9BTX4 Q9NPP2 uc002lxi.1 uc002lxi.2 uc002lxi.3 uc002lxi.4 uc002lxi.5 May antagonize Nodal signaling and subsequent organization of axial structures during mesodermal patterning (By similarity). Forms a complex with NOMO2 and TMEM147, resulting in a stabilization of the 3 proteins, which are otherwise quickly degraded by the proteasome. Due to the strong similarity between NOMO1, NOMO2 and NOMO3, probably also interacts with NOMO1 and NOMO3. Participates in a large protein complex, which is not related to the gamma-secretase complex. Endoplasmic reticulum membrane; Single-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q969V3-1; Sequence=Displayed; Name=2; IsoId=Q969V3-2; Sequence=VSP_013851; Highly expressed in pancreas and skeletal muscle and, at lower levels, in heart. Belongs to the nicastrin family. Sequence=AAH03076.2; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH25926.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAB66502.1; Type=Erroneous initiation; Note=Translation N-terminally extended; protein binding endoplasmic reticulum endoplasmic reticulum membrane regulation of signal transduction membrane integral component of membrane macromolecular complex regulation of protein complex assembly protein stabilization regulation of protein complex stability uc002lxi.1 uc002lxi.2 uc002lxi.3 uc002lxi.4 uc002lxi.5 
ENST00000246151.9 PITHD1 ENST00000246151.9 Homo sapiens PITH domain containing 1 (PITHD1), mRNA. (from RefSeq NM_020362) AD039 B2R7J4 C1orf128 ENST00000246151.1 ENST00000246151.2 ENST00000246151.3 ENST00000246151.4 ENST00000246151.5 ENST00000246151.6 ENST00000246151.7 ENST00000246151.8 HT014 NM_020362 PITH1_HUMAN PP603 Q5QPN6 Q5QPN7 Q9GZP4 Q9NRI8 uc001bhq.1 uc001bhq.2 uc001bhq.3 uc001bhq.4 uc001bhq.5 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9GZP4-1; Sequence=Displayed; Name=2; IsoId=Q9GZP4-2; Sequence=VSP_024807; Belongs to the PITHD1 family. Contains 1 PITH domain. Sequence=CAI23142.1; Type=Erroneous gene model prediction; nucleus uc001bhq.1 uc001bhq.2 uc001bhq.3 uc001bhq.4 uc001bhq.5 
ENST00000246166.3 FNTB ENST00000246166.3 Homo sapiens farnesyltransferase, CAAX box, beta (FNTB), mRNA. (from RefSeq NM_002028) B2RDX6 ENST00000246166.1 ENST00000246166.2 FNTB_HUMAN NM_002028 P49356 uc001xia.1 uc001xia.2 uc001xia.3 uc001xia.4 uc001xia.5 Catalyzes the transfer of a farnesyl moiety from farnesyl pyrophosphate to a cysteine at the fourth position from the C-terminus of several proteins. The beta subunit is responsible for peptide-binding. Farnesyl diphosphate + protein-cysteine = S- farnesyl protein + diphosphate. Binds 1 zinc ion per subunit. Heterodimer of an alpha and a beta subunit. P49354:FNTA; NbExp=7; IntAct=EBI-602349, EBI-602336; Belongs to the protein prenyltransferase subunit beta family. Contains 5 PFTB repeats. catalytic activity prenyltransferase activity protein farnesyltransferase activity protein binding cytosol microtubule associated complex protein farnesyltransferase complex zinc ion binding transferase activity protein prenylation protein farnesylation regulation of rhodopsin mediated signaling pathway metal ion binding uc001xia.1 uc001xia.2 uc001xia.3 uc001xia.4 uc001xia.5 
ENST00000246174.6 ARMCX5 ENST00000246174.6 Homo sapiens armadillo repeat containing X-linked 5 (ARMCX5), transcript variant 5, mRNA. (from RefSeq NM_001168485) ARMX5_HUMAN B3KU88 D3DX99 ENST00000246174.1 ENST00000246174.2 ENST00000246174.3 ENST00000246174.4 ENST00000246174.5 NM_001168485 Q68DB4 Q6P1M9 Q9BVZ3 Q9H969 uc004ejg.1 uc004ejg.2 uc004ejg.3 uc004ejg.4 Contains 3 ARM repeats. protein binding uc004ejg.1 uc004ejg.2 uc004ejg.3 uc004ejg.4 
ENST00000246186.8 MMP24 ENST00000246186.8 Homo sapiens matrix metallopeptidase 24 (MMP24), mRNA. (from RefSeq NM_006690) B7ZBG8 ENST00000246186.1 ENST00000246186.2 ENST00000246186.3 ENST00000246186.4 ENST00000246186.5 ENST00000246186.6 ENST00000246186.7 MMP24_HUMAN MT5MMP NM_006690 Q9H440 Q9Y5R2 uc002xbu.1 uc002xbu.2 uc002xbu.3 uc002xbu.4 This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. Unlike most MMPs, which are secreted, this protease is a member of the membrane-type MMP (MT-MMP) subfamily, contains a transmembrane domain and is expressed at the cell surface. Substrates of this protease include the proteins cadherin 2 and matrix metallopeptidase 2 (also known as 72 kDa type IV collagenase). The gene has previously been referred to as MMP25 but has been renamed matrix metallopeptidase 24 (MMP24). [provided by RefSeq, Oct 2019]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC047614.1, SRR1660803.189864.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2144333 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246186.8/ ENSP00000246186.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Activates progelatinase A. May also be a proteoglycanase involved in degradation of proteoglycans, such as dermatan sulfate and chondroitin sulfate proteoglycans. Cleaves partially fibronectin, but not collagen type I, nor laminin (By similarity). Binds 1 zinc ion per subunit (By similarity). Calcium (By similarity). Cell membrane; Single-pass type I membrane protein; Extracellular side (By similarity). Processed matrix metalloproteinase-24: Secreted, extracellular space, extracellular matrix (By similarity). Note=Also shed from cell surface as soluble proteinase, by a proteolytic cleavage (By similarity). Predominantly expressed in brain, kidney, pancreas and lung. Overexpressed in a series of brain tumors, including astrocytomas and glioblastomas. The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme. The precursor is cleaved by a furin endopeptidase (By similarity). Belongs to the peptidase M10A family. Contains 4 hemopexin-like domains. metalloendopeptidase activity extracellular region extracellular space Golgi apparatus plasma membrane integral component of plasma membrane proteolysis cell adhesion enzyme activator activity peptidase activity metallopeptidase activity zinc ion binding glial cell differentiation membrane integral component of membrane hydrolase activity extracellular matrix organization collagen catabolic process extracellular matrix trans-Golgi network membrane positive regulation of catalytic activity cell-cell adhesion mediated by cadherin cadherin binding metal ion binding detection of temperature stimulus involved in sensory perception of pain extracellular exosome neuronal stem cell population maintenance cell-cell adhesion via plasma-membrane adhesion molecules uc002xbu.1 uc002xbu.2 uc002xbu.3 uc002xbu.4 
ENST00000246194.8 RALY ENST00000246194.8 Homo sapiens RALY heterogeneous nuclear ribonucleoprotein (RALY), transcript variant 1, mRNA. (from RefSeq NM_016732) ENST00000246194.1 ENST00000246194.2 ENST00000246194.3 ENST00000246194.4 ENST00000246194.5 ENST00000246194.6 ENST00000246194.7 HNRPCL2 NM_016732 P542 Q14621 Q2M365 Q5QPL8 Q9BQX6 Q9UJE3 Q9UKM9 RALY_HUMAN uc002xab.1 uc002xab.2 uc002xab.3 uc002xab.4 uc002xab.5 This gene encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) gene family. This protein may play a role in pre-mRNA splicing and in embryonic development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]. Probable-RNA binding protein. Could be a heterogeneous nuclear ribonucleoprotein (hnRNP). May be involved in pre-mRNA splicing (By similarity). Identified in the spliceosome C complex. Nucleus (Probable). Event=Alternative splicing; Named isoforms=2; Name=2; IsoId=Q9UKM9-1; Sequence=Displayed; Name=1; IsoId=Q9UKM9-2; Sequence=VSP_005804; Expressed in heart, brain, lung, liver, skeletal muscle, kidney and pancreas. Weakly expressed in placenta. Phosphorylated upon DNA damage, probably by ATM or ATR. Autoantigen found in infectious mononucleosis caused by Epstein-Barr virus. An epitope recognized by B-cells, which cross-react with the BKRF1 protein (EBNA-1 nuclear protein) of Epstein-Barr virus has been identified. Belongs to the RRM HNRPC family. RALY subfamily. Contains 1 RRM (RNA recognition motif) domain. mRNA splicing, via spliceosome nucleic acid binding transcription cofactor activity RNA binding protein binding nucleus spliceosomal complex mRNA processing RNA splicing cholesterol homeostasis catalytic step 2 spliceosome regulation of nucleic acid-templated transcription uc002xab.1 uc002xab.2 uc002xab.3 uc002xab.4 uc002xab.5 
ENST00000246229.5 PLAGL2 ENST00000246229.5 Homo sapiens PLAG1 like zinc finger 2 (PLAGL2), mRNA. (from RefSeq NM_002657) A8K8T5 E1P5M3 ENST00000246229.1 ENST00000246229.2 ENST00000246229.3 ENST00000246229.4 KIAA0198 NM_002657 PLAL2_HUMAN Q92584 Q9UPG8 uc002wxn.1 uc002wxn.2 uc002wxn.3 uc002wxn.4 Pleiomorphic adenoma gene-like 2 is a zinc-finger protein that recognizes DNA and/or RNA. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: D83784.1, AF006005.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246229.5/ ENSP00000246229.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Shows weak transcriptional activatory activity. Nucleus (Probable). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 6 C2H2-type zinc fingers. Sequence=BAA12113.1; Type=Erroneous initiation; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PLAGL2ID41738ch20q11.html"; RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus transcription, DNA-templated lipid metabolic process post-embryonic development chylomicron assembly sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter metal ion binding positive regulation of intrinsic apoptotic signaling pathway uc002wxn.1 uc002wxn.2 uc002wxn.3 uc002wxn.4 
ENST00000246337.9 UROD ENST00000246337.9 Homo sapiens uroporphyrinogen decarboxylase (UROD), transcript variant 4, non-coding RNA. (from RefSeq NR_158185) A8K762 DCUP_HUMAN ENST00000246337.1 ENST00000246337.2 ENST00000246337.3 ENST00000246337.4 ENST00000246337.5 ENST00000246337.6 ENST00000246337.7 ENST00000246337.8 NR_158185 P06132 Q16863 Q16883 Q53YB8 Q53ZP6 Q6IB28 Q9BUZ0 uc001cna.1 uc001cna.2 uc001cna.3 uc001cna.4 This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189661.114087.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III. Uroporphyrinogen III = coproporphyrinogen + 4 CO(2). Porphyrin metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 4/4. Homodimer. Cytoplasm. Defects in UROD are the cause of familial porphyria cutanea tarda (FPCT) [MIM:176100]; also known as porphyria cutanea tarda type II. FPCT is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. Besides the familial form of PCT, a relatively common idiosyncratic form is known in which only the liver enzyme is reduced. This form is referred to as porphyria cutanea tarda "sporadic" type or type I [MIM:176090]. PCT type I occurs sporadically as an unusual accompaniment of common hepatic disorders such as alcohol- associated liver disease. Defects in UROD are the cause of hepatoerythropoietic porphyria (HEP) [MIM:176100]. HEP is a rare autosomal recessive disorder. It is the severe form of cutaneous porphyria, and presents in infancy. The level of UROD is very low in erythrocytes and cultured skin fibroblasts, suggesting that HEP is the homozygous state for porphyria cutanea tarda. Belongs to the uroporphyrinogen decarboxylase family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UROD"; Name=Wikipedia; Note=Uroporphyrinogen III decarboxylase entry; URL="http://en.wikipedia.org/wiki/Uroporphyrinogen_III_decarboxylase"; uroporphyrinogen decarboxylase activity protein binding nucleoplasm cytoplasm cytosol porphyrin-containing compound biosynthetic process protoporphyrinogen IX biosynthetic process heme biosynthetic process lyase activity carboxy-lyase activity heme metabolic process uc001cna.1 uc001cna.2 uc001cna.3 uc001cna.4 
ENST00000246515.2 SLURP1 ENST00000246515.2 Homo sapiens secreted LY6/PLAUR domain containing 1 (SLURP1), mRNA. (from RefSeq NM_020427) ARS ENST00000246515.1 NM_020427 P55000 Q53YJ6 Q6PUA6 Q92483 SLUR1_HUMAN uc003ywy.1 uc003ywy.2 uc003ywy.3 uc003ywy.4 The protein encoded by this gene is a member of the Ly6/uPAR family but lacks a GPI-anchoring signal sequence. It is thought that this secreted protein contains antitumor activity. Mutations in this gene have been associated with Mal de Meleda, a rare autosomal recessive skin disorder. This gene maps to the same chromosomal region as several members of the Ly6/uPAR family of glycoprotein receptors. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC105135.1, BQ027886.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145893, SAMEA2147596 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246515.2/ ENSP00000246515.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Has an antitumor activity. Was found to be a marker of late differentiation of the skin. Implicated in maintaining the physiological and structural integrity of the keratinocyte layers of the skin. Homodimer. Secreted. Granulocytes. Expressed in skin. Predominantly expressed in the granular layer of skin, notably the acrosyringium. Identified in several biological fluids such as sweat, saliva, tears, plasma and urine. Regulated by retinoic acid, EGF and IFNG/IFN-gamma. Defects in SLURP1 are a cause of Mal de Meleda (MDM) [MIM:248300]; also known as keratosis palmoplantaris transgradiens of Siemens. MDM is a rare autosomal recessive skin disorder, characterized by diffuse transgressive palmoplantar keratoderma with keratotic lesions extending onto the dorsa of the hands and the feet (transgrediens). Patients may have hyperhidrosis. Other features include perioral erythema, lichenoid plaques on the knees and the elbows, and nail abnormalities. Contains 1 UPAR/Ly6 domain. It is not certain that ARS and ANUP are identical proteins. cell activation cytokine activity protein binding extracellular region extracellular space cell adhesion locomotory behavior negative regulation of cell proliferation negative regulation of keratinocyte proliferation negative regulation of cell migration acetylcholine receptor activator activity urokinase plasminogen activator signaling pathway neuromuscular process controlling posture extracellular exosome regulation of neurotransmitter receptor activity uc003ywy.1 uc003ywy.2 uc003ywy.3 uc003ywy.4 
ENST00000246529.4 LRFN3 ENST00000246529.4 Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA. (from RefSeq NM_024509) ENST00000246529.1 ENST00000246529.2 ENST00000246529.3 LRFN3_HUMAN NM_024509 Q6UY10 Q9BTN0 SALM4 UNQ5865/PRO34192 uc060xla.1 uc060xla.2 Cell adhesion molecule that mediates homophilic cell- cell adhesion in a Ca(2+)-independent manner. Promotes neurite outgrowth in hippocampal neurons (By similarity). Can form heteromeric complexes with LRFN1, LRFN2, LRFN4 and LRFN5. Able to form homomeric complexes across cell junctions, between adjacent cells. Does not interact with DLG4 (By similarity). Cell membrane; Single-pass type I membrane protein (By similarity). Cell projection, axon (By similarity). Cell projection, dendrite (By similarity). Cell junction, synapse (By similarity). Cell junction, synapse, presynaptic cell membrane (By similarity). Cell junction, synapse, postsynaptic cell membrane (By similarity). Lacks a cytoplasmic PDZ-binding domain, which has been implicated in function of related Lrfn proteins. N-glycosylated (By similarity). Belongs to the LRFN family. Contains 1 fibronectin type-III domain. Contains 1 Ig-like (immunoglobulin-like) domain. Contains 7 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. Contains 1 LRRNT domain. plasma membrane cell adhesion cell surface membrane integral component of membrane cell junction axon dendrite presynaptic membrane cell projection synapse postsynaptic membrane glutamatergic synapse integral component of presynaptic active zone membrane integral component of postsynaptic specialization membrane integral component of postsynaptic density membrane synaptic membrane adhesion regulation of presynapse assembly uc060xla.1 uc060xla.2 
ENST00000246532.6 IGFLR1 ENST00000246532.6 Homo sapiens IGF like family receptor 1 (IGFLR1), transcript variant 10, non-coding RNA. (from RefSeq NR_144342) ENST00000246532.1 ENST00000246532.2 ENST00000246532.3 ENST00000246532.4 ENST00000246532.5 IGFR1_HUMAN NR_144342 Q8N5X0 Q9H665 TMEM149 U2AF1L4 uc002obd.1 uc002obd.2 uc002obd.3 uc002obd.4 uc002obd.5 uc002obd.6 Probable cell membrane receptor for the IGF-like family proteins. Binds IGFL1 and IGFL3 with a higher affinity. May also bind IGFL2. Q6UW32:IGFL1; NbExp=5; IntAct=EBI-3870439, EBI-3870426; Cell membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H665-1; Sequence=Displayed; Name=2; IsoId=Q9H665-2; Sequence=VSP_026145; Up-regulated by the proinflammatory cytokine TNFA and in skin upon tissue inflammation. protein binding plasma membrane membrane integral component of membrane uc002obd.1 uc002obd.2 uc002obd.3 uc002obd.4 uc002obd.5 uc002obd.6 
ENST00000246533.8 CAPNS1 ENST00000246533.8 Homo sapiens calpain small subunit 1 (CAPNS1), transcript variant 1, mRNA. (from RefSeq NM_001749) A8K0P1 CAPN4 CAPNS CPNS1_HUMAN ENST00000246533.1 ENST00000246533.2 ENST00000246533.3 ENST00000246533.4 ENST00000246533.5 ENST00000246533.6 ENST00000246533.7 NM_001749 P04632 Q8WTX3 Q96EW0 uc002odj.1 uc002odj.2 uc002odj.3 uc002odj.4 uc002odj.5 This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including apoptosis, proliferation, migration, adhesion, and autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]. Regulatory subunit of the calcium-regulated non- lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. Calcium (By similarity). Homodimer or heterodimer of a large (catalytic) and a small (regulatory) subunit. In presence of calcium, the heterodimer dissociates (By similarity). P17655:CAPN2; NbExp=2; IntAct=EBI-711828, EBI-1028956; Cytoplasm (By similarity). Cell membrane (By similarity). Note=Translocates to the plasma membrane upon calcium binding (By similarity). The contact of the 5th EF-hand domain from each monomer allows the formation of the homodimer and also appears to mediate the contact between the large catalytic subunit and small regulatory subunit for the formation of the heterodimer (By similarity). EF-hand domains are paired. EF-hand 1 is paired with EF- hand 2 and EF-hand 3 is paired with EF-hand 4. The fifth EF-hand domain, left unpaired, does not bind the calcium but is responsible of the dimerization by EF-embrace. The first four EF- hand domains bind calcium, however it is not sure if the binding of EF-hand 4 to calcium is physiologically relevant. Contains 5 EF-hand domains. Name=CaBP; Note=Calpain; URL="http://structbio.vanderbilt.edu/cabp_database/general/prot_pages/calpain.html"; Name=Calpains homepage; URL="http://ag.arizona.edu/calpains/"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/capns1/"; calcium-dependent cysteine-type endopeptidase activity calcium ion binding protein binding cytoplasm cytosol plasma membrane proteolysis positive regulation of cell proliferation membrane regulation of macroautophagy extracellular matrix disassembly metal ion binding extracellular exosome cornification uc002odj.1 uc002odj.2 uc002odj.3 uc002odj.4 uc002odj.5 
ENST00000246535.4 PDCD2L ENST00000246535.4 Homo sapiens programmed cell death 2 like (PDCD2L), transcript variant 1, mRNA. (from RefSeq NM_032346) ENST00000246535.1 ENST00000246535.2 ENST00000246535.3 NM_032346 PDD2L_HUMAN Q9BRP1 uc002nvj.1 uc002nvj.2 uc002nvj.3 uc002nvj.4 uc002nvj.5 Over-expression suppresses AP1, CREB, NFAT, and NF-kB transcriptional activation, and delays cell cycle progression at S phase. Higher expression in lung, colon, mammary gland, cervix, stomach and small intestine. protein binding cytoplasm cell cycle membrane uc002nvj.1 uc002nvj.2 uc002nvj.3 uc002nvj.4 uc002nvj.5 
ENST00000246548.9 UBA2 ENST00000246548.9 Homo sapiens ubiquitin like modifier activating enzyme 2 (UBA2), mRNA. (from RefSeq NM_005499) ENST00000246548.1 ENST00000246548.2 ENST00000246548.3 ENST00000246548.4 ENST00000246548.5 ENST00000246548.6 ENST00000246548.7 ENST00000246548.8 HRIHFB2115 NM_005499 O95605 Q59H87 Q6IBP6 Q9NTJ1 Q9UBT2 Q9UED2 SAE2 SAE2_HUMAN UBLE1B uc002nvk.1 uc002nvk.2 uc002nvk.3 uc002nvk.4 uc002nvk.5 Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 (MIM 613294) and UBA2 form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK023120.1, SRR3476690.51052.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246548.9/ ENSP00000246548.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## The heterodimer acts as a E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a conserved active site cysteine residue on UBA2/SAE2. Protein modification; protein sumoylation. Heterodimer of SAE1 and UBA2/SAE2. The heterodimer corresponds to the two domains that are encoded on a single polypeptide chain in ubiquitin-activating enzyme E1. Interacts with UBE2I. Q9UBE0:SAE1; NbExp=3; IntAct=EBI-718569, EBI-743154; Nucleus. Belongs to the ubiquitin-activating E1 family. nucleotide binding magnesium ion binding protein binding ATP binding nucleus nucleoplasm cytoplasm enzyme activator activity transcription factor binding small protein activating enzyme activity transferase activity protein sumoylation SUMO activating enzyme activity SUMO activating enzyme complex SUMO binding protein modification by small protein conjugation positive regulation of catalytic activity small protein activating enzyme binding ubiquitin-like protein conjugating enzyme binding metal ion binding protein heterodimerization activity uc002nvk.1 uc002nvk.2 uc002nvk.3 uc002nvk.4 uc002nvk.5 
ENST00000246551.9 HCST ENST00000246551.9 Homo sapiens hematopoietic cell signal transducer (HCST), transcript variant 1, mRNA. (from RefSeq NM_014266) DAP10 ENST00000246551.1 ENST00000246551.2 ENST00000246551.3 ENST00000246551.4 ENST00000246551.5 ENST00000246551.6 ENST00000246551.7 ENST00000246551.8 HCST_HUMAN KAP10 NM_014266 PIK3AP Q9UBK5 Q9UBS1 Q9Y3Y0 UNQ587/PRO1157 uc002ocl.1 uc002ocl.2 uc002ocl.3 This gene encodes a transmembrane signaling adaptor that contains a YxxM motif in its cytoplasmic domain. The encoded protein may form part of the immune recognition receptor complex with the C-type lectin-like receptor NKG2D. As part of this receptor complex, this protein may activate phosphatidylinositol 3-kinase dependent signaling pathways through its intracytoplasmic YxxM motif. This receptor complex may have a role in cell survival and proliferation by activation of NK and T cell responses. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. Transmembrane adapter protein which associates with NKG2D to form an activation receptor NKG2D-HCST in lymphoid and myeloid cells; this receptor plays a major role in triggering cytotoxicity against target cells expressing cell surface ligands such as MHC class I chain-related MICA and MICB, and UL16-binding proteins (ULBPs); these ligands are up-regulated by stress conditions and pathological state such as viral infection and tumor transformation. Functions as docking site for PI3-kinase PIK3R1 and GRB2. Interaction of ULBPs with NKG2D-DAP10 triggers calcium mobilization and activation of the PIK3R1, MAP2K/ERK, and JAK2/STAT5 signaling pathways. Both PIK3R1 and GRB2 are required for full NKG2D-HCST-mediated activation and ultimate killing of target cells. In NK cells, NKG2D-HCST signaling directly induces cytotoxicity and enhances cytokine production initiated via DAP12/TYROBP-associated receptors. In T-cells, it provides primarily costimulation for TCR-induced signals. NKG2D-HCST receptor plays a role in immune surveillance against tumors and is required for cytolysis of tumors cells; indeed, melanoma cells that do not express NKG2D ligands escape from immune surveillance mediated by NK cells. Interacts with CLEC5A (By similarity). Forms an CLEC5A/TYROBP/HCST trimolecular complex depending almost solely on TYROBP (By similarity). Homodimer; Disulfide-linked. Interacts with NKG2D to form a stable complex, which results in surface expression of both proteins, whereas alone, it is minimally expressed. Interacts with PIK3R1 and GRB2. Membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UBK5-1; Sequence=Displayed; Name=2; IsoId=Q9UBK5-2; Sequence=VSP_033022; Predominantly expressed in hemopoietic cells such as NK cells, subset of T-cells and monocytes. Detected in leukocytes, spleen, and thymus. By T-cell receptor (TCR) ligation, which leads to enhanced NKG2D-HCST cell surface expression. Down-regulated by IL21/interleukin-21 in T-cells and NK cells. Phosphorylated; PIK3R1 and GRB2 associate specifically with tyrosine-phosphorylated HCST. O-glycosylated. Silencing of HCST suppresses cytolytic activity of T-cells and NK cells. Belongs to the DAP10 family. receptor binding protein binding plasma membrane protein phosphorylation cell surface positive regulation of phosphatidylinositol 3-kinase signaling membrane integral component of membrane phosphatidylinositol 3-kinase binding regulation of immune response uc002ocl.1 uc002ocl.2 uc002ocl.3 
ENST00000246553.4 FFAR1 ENST00000246553.4 Homo sapiens free fatty acid receptor 1 (FFAR1), mRNA. (from RefSeq NM_005303) ENST00000246553.1 ENST00000246553.2 ENST00000246553.3 FFAR1_HUMAN GPR40 NM_005303 O14842 Q0VAS2 Q4VBL4 uc002nzc.1 uc002nzc.2 uc002nzc.3 uc002nzc.4 This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for medium and long chain free fatty acids and may be involved in the metabolic regulation of insulin secretion. Polymorphisms in this gene may be associated with type 2 diabetes. [provided by RefSeq, Apr 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for medium and long chain saturated and unsaturated fatty acids. Binding of the ligand increase intracellular calcium concentration and amplify glucose-stimulated insulin secretion. The activity of this receptor is mediated by G- proteins that activate phospholipase C. Seems to act through a G(q) and G(i)-mediated pathway. Cell membrane; Multi-pass membrane protein. Expressed abundantly in pancreatic beta cells. Belongs to the G-protein coupled receptor 1 family. G-protein coupled receptor activity plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway lipid binding membrane integral component of membrane insulin secretion positive regulation of insulin secretion glucose homeostasis bioactive lipid receptor activity positive regulation of calcium ion transport response to fatty acid uc002nzc.1 uc002nzc.2 uc002nzc.3 uc002nzc.4 
ENST00000246635.8 KRT13 ENST00000246635.8 Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA. (from RefSeq NM_153490) ENST00000246635.1 ENST00000246635.2 ENST00000246635.3 ENST00000246635.4 ENST00000246635.5 ENST00000246635.6 ENST00000246635.7 K1C13_HUMAN NM_153490 P13646 Q53G54 Q6AZK5 Q8N240 uc002hwu.1 uc002hwu.2 uc002hwu.3 The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Mutations in this gene and keratin 4 have been associated with the autosomal dominant disorder White Sponge Nevus. The type I cytokeratins are clustered in a region of chromosome 17q21.2. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been described. [provided by RefSeq, Jul 2008]. Heterotetramer of two type I and two type II keratins. keratin-13 is generally associated with keratin-4. Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=A; IsoId=P13646-1; Sequence=Displayed; Name=2; IsoId=P13646-2; Sequence=VSP_016376, VSP_016377; Note=No experimental confirmation available; Name=3; IsoId=P13646-3; Sequence=VSP_038433; Expressed in some epidermal sweat gland ducts (at protein level) and in exocervix, esophagus and placenta. O-glycosylated; glycans consist of single N-acetylglucosamine residues. Defects in KRT13 are a cause of white sponge nevus of cannon (WSN) [MIM:193900]. WSN is a rare autosomal dominant disorder which predominantly affects non-cornified stratified squamous epithelia. Clinically, it is characterized by the presence of soft, white, and spongy plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Less frequently the mucous membranes of the nose, esophagus, genitalia and rectum are involved. There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa). Belongs to the intermediate filament family. Name=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT13"; Name=Wikipedia; Note=Keratin-13 entry; URL="http://en.wikipedia.org/wiki/Keratin_13"; structural molecule activity protein binding nucleus cytosol intermediate filament cytoskeleton organization keratinization keratin filament intermediate filament cytoskeleton extracellular exosome cornification uc002hwu.1 uc002hwu.2 uc002hwu.3 
ENST00000246639.7 KRT35 ENST00000246639.7 Homo sapiens keratin 35 (KRT35), mRNA. (from RefSeq NM_002280) ENST00000246639.1 ENST00000246639.2 ENST00000246639.3 ENST00000246639.4 ENST00000246639.5 ENST00000246639.6 HHA5 HKA5 KRT35_HUMAN KRTHA5 NM_002280 O76012 Q92651 Q92764 uc060fbc.1 uc060fbc.2 The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## CDS exon combination :: X90763.1 [ECO:0000331] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## Early expression in the hair follicle, mainly found in supramatricial cells and lowermost cortical cells of the hair bulb. There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic). Belongs to the intermediate filament family. Sequence=CAA62286.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAA76387.1; Type=Erroneous initiation; Note=Translation N-terminally extended; structural molecule activity extracellular space cytosol intermediate filament anatomical structure morphogenesis keratinization extracellular exosome cornification uc060fbc.1 uc060fbc.2 
ENST00000246646.4 KRT38 ENST00000246646.4 Homo sapiens keratin 38 (KRT38), mRNA. (from RefSeq NM_006771) A2RRM5 ENST00000246646.1 ENST00000246646.2 ENST00000246646.3 HHA8 HKA8 KRT38_HUMAN KRTHA8 NM_006771 O76015 Q6A164 uc002hwq.1 uc002hwq.2 uc002hwq.3 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: BC131715.1, AJ786656.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246646.4/ ENSP00000246646.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic). Belongs to the intermediate filament family. structural molecule activity protein binding cytosol intermediate filament keratinization extracellular exosome cornification uc002hwq.1 uc002hwq.2 uc002hwq.3 
ENST00000246657.2 CCR7 ENST00000246657.2 Homo sapiens C-C motif chemokine receptor 7 (CCR7), transcript variant 1, mRNA. (from RefSeq NM_001838) CCR7_HUMAN CMKBR7 EBI1 ENST00000246657.1 EVI1 NM_001838 P32248 uc002huw.1 uc002huw.2 uc002huw.3 uc002huw.4 The protein encoded by this gene is a member of the G protein-coupled receptor family. This receptor was identified as a gene induced by the Epstein-Barr virus (EBV), and is thought to be a mediator of EBV effects on B lymphocytes. This receptor is expressed in various lymphoid tissues and activates B and T lymphocytes. It has been shown to control the migration of memory T cells to inflamed tissues, as well as stimulate dendritic cell maturation. The chemokine (C-C motif) ligand 19 (CCL19/ECL) has been reported to be a specific ligand of this receptor. Signals mediated by this receptor regulate T cell homeostasis in lymph nodes, and may also function in the activation and polarization of T cells, and in chronic inflammation pathogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]. Receptor for the MIP-3-beta chemokine. Probable mediator of EBV effects on B-lymphocytes or of normal lymphocyte functions. Cell membrane; Multi-pass membrane protein. Expressed in various lymphoid tissues and activated B- and T-lymphocytes, strongly up-regulated in B-cells infected with Epstein-Barr virus and T-cells infected with herpesvirus 6 or 7. By Epstein-Barr virus (EBV). Belongs to the G-protein coupled receptor 1 family. Name=Wikipedia; Note=CC chemokine receptors entry; URL="http://en.wikipedia.org/wiki/CC_chemokine_receptors"; establishment of T cell polarity positive regulation of cell-matrix adhesion dendritic cell chemotaxis myeloid dendritic cell chemotaxis positive regulation of dendritic cell antigen processing and presentation positive regulation of hypersensitivity positive regulation of humoral immune response G-protein coupled receptor activity chemokine receptor activity mitochondrion plasma membrane chemotaxis inflammatory response immune response signal transduction G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration external side of plasma membrane cell surface membrane integral component of membrane C-C chemokine receptor activity calcium-mediated signaling chemokine binding C-C chemokine binding positive regulation of actin filament polymerization positive regulation of pseudopodium assembly ruffle organization response to lipopolysaccharide regulation of interferon-gamma production positive regulation of interleukin-12 production response to prostaglandin E chemokine (C-C motif) ligand 19 binding chemokine (C-C motif) ligand 21 binding chemokine (C-C motif) ligand 19 signaling pathway chemokine (C-C motif) ligand 21 signaling pathway C-C motif chemokine 19 receptor activity C-C motif chemokine 21 receptor activity positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of phosphatidylinositol 3-kinase activity negative thymic T cell selection positive regulation of cell adhesion positive regulation of protein kinase activity positive regulation of JNK cascade homeostasis of number of cells regulation of interleukin-1 beta secretion positive regulation of T cell receptor signaling pathway release of sequestered calcium ion into cytosol positive regulation of filopodium assembly positive regulation of protein kinase B signaling cell chemotaxis chemokine-mediated signaling pathway positive regulation of ERK1 and ERK2 cascade cellular response to cytokine stimulus response to nitric oxide interleukin-12 secretion positive regulation of neutrophil chemotaxis activation of GTPase activity lymphocyte migration into lymph node mature conventional dendritic cell differentiation positive regulation of cell motility positive regulation of dendritic cell chemotaxis positive regulation of immunological synapse formation positive regulation of T cell costimulation positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation regulation of dendritic cell dendrite assembly negative regulation of dendritic cell apoptotic process uc002huw.1 uc002huw.2 uc002huw.3 uc002huw.4 
ENST00000246662.9 KRT9 ENST00000246662.9 Homo sapiens keratin 9 (KRT9), mRNA. (from RefSeq NM_000226) ENST00000246662.1 ENST00000246662.2 ENST00000246662.3 ENST00000246662.4 ENST00000246662.5 ENST00000246662.6 ENST00000246662.7 ENST00000246662.8 K1C9_HUMAN NM_000226 O00109 P35527 Q0IJ47 Q14665 uc002hxe.1 uc002hxe.2 uc002hxe.3 uc002hxe.4 uc002hxe.5 uc002hxe.6 This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: S69510.1, Z29074.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2147596, SAMEA2163623 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246662.9/ ENSP00000246662.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May serve an important special function either in the mature palmar and plantar skin tissue or in the morphogenetic program of the formation of these tissues. Plays a role in keratin filament assembly. Heterotetramer of two type I and two type II keratins. Expressed in the terminally differentiated epidermis of palms and soles. Induced by intrinsic regulatory mechanisms and by extrinsic signals from a subset of dermal palmoplantar fibroblasts. Defects in KRT9 are a cause of palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]; also abbreviated as EHPPK. EPPK is a dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present with knuckle pads, thick pads of skin appearing over the proximal phalangeal joints. There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40- 55 and 56-70 kDa, respectively). Belongs to the intermediate filament family. Was originally (PubMed:2140676) thought to be a 60 kDa chain of placental scatter protein. Name=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT9"; structural molecule activity structural constituent of cytoskeleton extracellular space nucleus cytosol intermediate filament spermatogenesis epidermis development membrane keratinization skin development intermediate filament organization extracellular exosome cornification uc002hxe.1 uc002hxe.2 uc002hxe.3 uc002hxe.4 uc002hxe.5 uc002hxe.6 
ENST00000246672.4 NR1D1 ENST00000246672.4 Homo sapiens nuclear receptor subfamily 1 group D member 1 (NR1D1), mRNA. (from RefSeq NM_021724) EAR1 ENST00000246672.1 ENST00000246672.2 ENST00000246672.3 HREV NM_021724 NR1D1_HUMAN P20393 Q0P5Z4 Q15304 THRAL uc002htz.1 uc002htz.2 uc002htz.3 uc002htz.4 uc002htz.5 This gene encodes a transcription factor that is a member of the nuclear receptor subfamily 1. The encoded protein is a ligand-sensitive transcription factor that negatively regulates the expression of core clock proteins. In particular this protein represses the circadian clock transcription factor aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL). This protein may also be involved in regulating genes that function in metabolic, inflammatory and cardiovascular processes. [provided by RefSeq, Jan 2013]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC056148.1, M24898.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246672.4/ ENSP00000246672.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Functions as a constitutive transcriptional repressor. In collaboration with SP1, activates GJA1 transcription (By similarity). Possible receptor for triiodothyronine. Interacts with C1D and NR2E3 (By similarity). Interacts with SP1 (By similarity). Nucleus (Potential). Expressed in all tissues and cell lines examined. Expressed at high levels in some squamous carcinoma cell lines. Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain. Belongs to the nuclear hormone receptor family. NR1 subfamily. Contains 1 nuclear receptor DNA-binding domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin transcription regulatory region sequence-specific DNA binding RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcription corepressor binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding steroid hormone receptor activity transcription corepressor activity RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding protein binding nucleus nucleoplasm cytoplasm glycogen biosynthetic process regulation of transcription, DNA-templated transcription initiation from RNA polymerase II promoter multicellular organism development circadian rhythm transcription factor binding zinc ion binding hormone-mediated signaling pathway proteasomal protein catabolic process negative regulation of receptor biosynthetic process nuclear body regulation of lipid metabolic process heme binding cell differentiation ligand-dependent nuclear receptor transcription coactivator activity dendrite intracellular receptor signaling pathway protein destabilization circadian regulation of gene expression response to lipid negative regulation of toll-like receptor 4 signaling pathway regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter signaling receptor activity cholesterol homeostasis regulation of circadian sleep/wake cycle regulation of circadian rhythm cell projection negative regulation of I-kappaB kinase/NF-kappaB signaling dendritic spine steroid hormone mediated signaling pathway sequence-specific DNA binding transcription regulatory region DNA binding response to leptin regulation of fat cell differentiation negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding rhythmic process negative regulation of inflammatory response circadian temperature homeostasis regulation of insulin secretion involved in cellular response to glucose stimulus regulation of type B pancreatic cell proliferation positive regulation of bile acid biosynthetic process E-box binding cellular response to lipopolysaccharide cellular response to interleukin-1 cellular response to tumor necrosis factor RNA polymerase II transcription factor complex negative regulation of microglial cell activation uc002htz.1 uc002htz.2 uc002htz.3 uc002htz.4 uc002htz.5 
ENST00000246747.9 ARL2 ENST00000246747.9 Homo sapiens ADP ribosylation factor like GTPase 2 (ARL2), transcript variant 1, mRNA. (from RefSeq NM_001667) ENST00000246747.1 ENST00000246747.2 ENST00000246747.3 ENST00000246747.4 ENST00000246747.5 ENST00000246747.6 ENST00000246747.7 ENST00000246747.8 NM_001667 Q53YD8 Q53YD8_HUMAN hCG_23373 uc001och.1 uc001och.2 uc001och.3 uc001och.4 uc001och.5 uc001och.6 This gene encodes a small GTP-binding protein of the RAS superfamily which functions as an ADP-ribosylation factor (ARF). The encoded protein is one of a functionally distinct group of ARF-like genes. [provided by RefSeq, Jul 2008]. Belongs to the small GTPase superfamily. Arf family. nucleotide binding GTP binding nucleus nucleolus cytoplasm Golgi apparatus cytosol focal adhesion GDP binding uc001och.1 uc001och.2 uc001och.3 uc001och.4 uc001och.5 uc001och.6 
ENST00000246785.7 BCL2L12 ENST00000246785.7 Homo sapiens BCL2 like 12 (BCL2L12), transcript variant 6, non-coding RNA. (from RefSeq NR_104201) B2L12_HUMAN BPR ENST00000246785.1 ENST00000246785.2 ENST00000246785.3 ENST00000246785.4 ENST00000246785.5 ENST00000246785.6 NR_104201 Q3SY11 Q3SY13 Q96I96 Q9HB08 Q9HB09 uc061bhf.1 This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppressor protein, preventing its association with target genes. Overexpression of this gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9HB09-1; Sequence=Displayed; Name=2; IsoId=Q9HB09-2; Sequence=VSP_000522, VSP_000523; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Name=3; IsoId=Q9HB09-3; Sequence=VSP_043269; Note=No experimental confirmation available; Expressed mainly in breast, thymus, prostate, fetal liver, colon, placenta, pancreas, small intestine, spinal cord, kidney, and bone marrow and to a lesser extent in many other tissues. Isoform 2 is primarily expressed in skeletal muscle. Belongs to the Bcl-2 family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org//Genes/BCL2L12ID773ch19q13.html"; p53 binding protein binding nucleus apoptotic process membrane regulation of apoptotic process positive regulation of transcription from RNA polymerase II promoter negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator inhibition of cysteine-type endopeptidase activity involved in apoptotic process negative regulation of cellular senescence uc061bhf.1 
ENST00000246792.4 RRAS ENST00000246792.4 Homo sapiens RAS related (RRAS), mRNA. (from RefSeq NM_006270) ENST00000246792.1 ENST00000246792.2 ENST00000246792.3 NM_006270 P10301 Q6FH12 RRAS_HUMAN uc002pop.1 uc002pop.2 uc002pop.3 The protein encoded by this gene is a small GTPase involved in diverse processes including angiogenesis, vascular homeostasis and regeneration, cell adhesion, and neuronal axon guidance. Mutations in this gene are found in many invasive cancers. [provided by RefSeq, Jul 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC016286.1, BC016318.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246792.4/ ENSP00000246792.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Regulates the organization of the actin cytoskeleton. Interacts with PLCE1. Interacts (active GTP-bound form preferentially) with RGS14 (By similarity). P16333:NCK1; NbExp=3; IntAct=EBI-968703, EBI-389883; Cell membrane; Lipid-anchor; Cytoplasmic side (By similarity). Note=Inner surface of plasma membrane possibly with attachment requiring acylation of the C-terminal cysteine (By similarity with RAS). Belongs to the small GTPase superfamily. Ras family. nucleotide binding leukocyte differentiation GTPase activity protein binding GTP binding plasma membrane focal adhesion signal transduction Ras protein signal transduction membrane GDP binding negative regulation of cell migration macromolecular complex binding positive regulation of angiogenesis regulation of protein kinase B signaling face morphogenesis extracellular exosome regulation of ERK1 and ERK2 cascade uc002pop.1 uc002pop.2 uc002pop.3 
ENST00000246794.10 PRRG2 ENST00000246794.10 Homo sapiens proline rich and Gla domain 2 (PRRG2), transcript variant 2, mRNA. (from RefSeq NM_001316335) ENST00000246794.1 ENST00000246794.2 ENST00000246794.3 ENST00000246794.4 ENST00000246794.5 ENST00000246794.6 ENST00000246794.7 ENST00000246794.8 ENST00000246794.9 NM_001316335 O14669 PRGP2 Q6IBF8 TMG2 TMG2_HUMAN uc002pon.1 uc002pon.2 uc002pon.3 uc002pon.4 uc002pon.5 The protein encoded by this gene is a single-pass transmembrane protein containing an N-terminal gamma-carboxyglutamic acid (Gla) domain and tandem Pro/Leu-Pro-Xaa-Tyr (PY) motifs at its C-terminal end. The Gla domain is exposed on the cell surface while the PY motifs are cytoplasmic. The PY motifs of the encoded protein have been shown to interact with YAP1, a WW domain-containing protein. Therefore, it is thought that the encoded protein may be part of a signal transduction pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. Interacts with NEDD4 (By similarity). Membrane; Single-pass type I membrane protein. Highly expressed in the thyroid. Gla residues are produced after subsequent post-translational modifications of glutamate by a vitamin K-dependent gamma- carboxylase. Contains 1 Gla (gamma-carboxy-glutamate) domain. calcium ion binding protein binding extracellular region extracellular space integral component of plasma membrane membrane integral component of membrane uc002pon.1 uc002pon.2 uc002pon.3 uc002pon.4 uc002pon.5 
ENST00000246801.8 TSKS ENST00000246801.8 Homo sapiens testis specific serine kinase substrate (TSKS), mRNA. (from RefSeq NM_021733) ENST00000246801.1 ENST00000246801.2 ENST00000246801.3 ENST00000246801.4 ENST00000246801.5 ENST00000246801.6 ENST00000246801.7 NM_021733 Q8WXJ0 Q9UJT2 STK22S1 TSKS1 TSKS_HUMAN uc002ppm.1 uc002ppm.2 uc002ppm.3 uc002ppm.4 uc002ppm.5 This gene may play a role in testicular physiology, spermatogenesis or spermiogenesis. Expression of the encoded protein is highest in the testis and down-regulated in testicular cancer. The gene is localized to the region 19q13.3 among the related RAS viral oncogene homolog (RRAS) and interferon regulatory factor 3 (IRF3) genes, which are both involved in tumorigenesis pathways and progression. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BC058862.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1966682, SAMEA1968189 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246801.8/ ENSP00000246801.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## May play a role in testicular physiology, most probably in the process of spermatogenesis or spermatid development. Q96PF2:TSSK2; NbExp=2; IntAct=EBI-852113, EBI-852089; Cytoplasm, cytoskeleton, centrosome, centriole. Note=Concentrates in spermatid centrioles during flagellogenesis. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UJT2-1; Sequence=Displayed; Name=2; IsoId=Q9UJT2-2; Sequence=VSP_009591, VSP_009592, VSP_009593; Highly expressed in testis. Expressed at low levels in prostate, female breast, placenta, ovary and thymus. Phosphorylated on serine residue(s) by STK22A/TSSK1 and STK22B/TSSK2. protein binding cytoplasm centriole cytoskeleton negative regulation of phosphatase activity protein kinase binding uc002ppm.1 uc002ppm.2 uc002ppm.3 uc002ppm.4 uc002ppm.5 
ENST00000246802.10 NOP53 ENST00000246802.10 Homo sapiens NOP53 ribosome biogenesis factor (NOP53), mRNA. (from RefSeq NM_015710) ENST00000246802.1 ENST00000246802.2 ENST00000246802.3 ENST00000246802.4 ENST00000246802.5 ENST00000246802.6 ENST00000246802.7 ENST00000246802.8 ENST00000246802.9 GLTSCR2 GSCR2_HUMAN NM_015710 Q9BTC6 Q9HAX6 Q9NPP1 Q9NPR4 Q9NZM5 Q9UFI2 uc002phm.1 uc002phm.2 uc002phm.3 uc002phm.4 Interacts with HSV-1 early proteins ICP22 and ICP0. Nucleus, nucleolus. Expressed at high levels in heart and pancreas, moderate levels in placenta, liver, skeletal muscle, and kidney, and low levels in brain and lung. Belongs to the GLTSCR2 family. ribosomal large subunit assembly negative regulation of transcription from RNA polymerase II promoter fibrillar center regulation of protein phosphorylation p53 binding RNA binding protein binding nucleus nucleoplasm nucleolus cytosol DNA repair rRNA processing cellular response to DNA damage stimulus mitotic G2 DNA damage checkpoint 5S rRNA binding negative regulation of phosphatidylinositol 3-kinase signaling negative regulation of protein complex assembly negative regulation of proteasomal ubiquitin-dependent protein catabolic process positive regulation of proteasomal ubiquitin-dependent protein catabolic process regulation of RIG-I signaling pathway ribosome biogenesis identical protein binding regulation of apoptotic process intracellular membrane-bounded organelle protein stabilization regulation of cell cycle negative regulation of protein kinase B signaling cellular response to hypoxia regulation of signal transduction by p53 class mediator negative regulation of signal transduction by p53 class mediator negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter protein localization to nucleolus positive regulation of protein K63-linked deubiquitination regulation of aerobic respiration protein localization to nucleoplasm rDNA heterochromatin uc002phm.1 uc002phm.2 uc002phm.3 uc002phm.4 
ENST00000246868.7 SBDS ENST00000246868.7 Homo sapiens SBDS ribosome maturation factor (SBDS), mRNA. (from RefSeq NM_016038) A8K0P4 CGI-97 ENST00000246868.1 ENST00000246868.2 ENST00000246868.3 ENST00000246868.4 ENST00000246868.5 ENST00000246868.6 NM_016038 Q96FX0 Q9NV53 Q9Y3A5 SBDS_HUMAN uc003tvm.1 uc003tvm.2 uc003tvm.3 This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189652.125831.1, SRR3476690.331574.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2144333 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246868.7/ ENSP00000246868.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFTUD1, triggers the GTP- dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Required for normal levels of protein synthesis. May play a role in cellular stress resistance. May play a role in cellular response to DNA damage. May play a role in cell proliferation. Associates with the 60S ribosomal subunit. Interacts with NPM1, RPA1 and PRKDC. May interact with NIP7. Cytoplasm. Nucleus, nucleolus. Nucleus, nucleoplasm. Cytoplasm, cytoskeleton, spindle. Note=Primarily detected in the cytoplasm, and at low levels in nucleus and nucleolus (PubMed:19602484 and PubMed:17475909). Detected in the nucleolus during G1 and G2 phase of the cell cycle, and diffusely distributed in the nucleus during S phase. Detected at the mitotic spindle. Colocalizes with the microtubule organizing center during interphase (PubMed:19759903). Widely expressed. Defects in SBDS are the cause of Shwachman-Diamond syndrome (SDS) [MIM:260400]. SDS is an autosomal recessive disorder characterized by pancreatic exocrine insufficiency, hematologic dysfunction, and skeletal abnormalities. Belongs to the SDO1/SBDS family. Name=SBDSbase; Note=SBDS mutation db; URL="http://bioinf.uta.fi/SBDSbase/"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SBDS"; spindle pole inner cell mass cell proliferation RNA binding protein binding nucleus nucleoplasm nucleolus cytoplasm spindle cytosol cytoskeleton rRNA processing mitotic spindle organization microtubule binding cell proliferation rRNA binding bone mineralization leukocyte chemotaxis ribosome biogenesis mature ribosome assembly ribosome binding bone marrow development uc003tvm.1 uc003tvm.2 uc003tvm.3 
ENST00000246891.9 CSN1S1 ENST00000246891.9 Homo sapiens casein alpha s1 (CSN1S1), transcript variant 1, mRNA. (from RefSeq NM_001890) A1A510 A1A511 CASA CASA1_HUMAN CSN1 ENST00000246891.1 ENST00000246891.2 ENST00000246891.3 ENST00000246891.4 ENST00000246891.5 ENST00000246891.6 ENST00000246891.7 ENST00000246891.8 NM_001890 P47710 uc003hep.1 uc003hep.2 uc003hep.3 Important role in the capacity of milk to transport calcium phosphate. Casoxin D acts as opioid antagonist and has vasorelaxing activity mediated by bradykinin B1 receptors. Heteromultimers of alpha-s1 casein and kappa-casein; disulfide-linked. Secreted. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P47710-1; Sequence=Displayed; Name=2; IsoId=P47710-2; Sequence=VSP_000795; Name=3; IsoId=P47710-3; Sequence=VSP_000796; Mammary gland specific. Secreted in milk. Not glycosylated. In milk, the alpha s1- and beta-caseins precipitate in presence of calcium (so-called calcium-sensitive caseins). Kappa-casein prevents the precipitation of the other caseins by calcium through the formation of large stable colloidal particles termed micelles. Belongs to the alpha-casein family. Name=Protein Spotlight; Note=Of buttons, digestion and glue - Issue 16 of November 2001; URL="http://web.expasy.org/spotlight/back_issues/sptlt016.shtml"; extracellular region extracellular space response to estradiol response to progesterone transmembrane transport response to dehydroepiandrosterone response to 11-deoxycorticosterone uc003hep.1 uc003hep.2 uc003hep.3 
ENST00000246895.9 STATH ENST00000246895.9 Homo sapiens statherin (STATH), transcript variant 1, mRNA. (from RefSeq NM_003154) B2R4F8 ENST00000246895.1 ENST00000246895.2 ENST00000246895.3 ENST00000246895.4 ENST00000246895.5 ENST00000246895.6 ENST00000246895.7 ENST00000246895.8 NM_003154 P02808 STAT_HUMAN uc003heu.1 uc003heu.2 uc003heu.3 Salivary protein that stabilizes saliva supersaturated with calcium salts by inhibiting the precipitation of calcium phosphate salts. It also modulates hydroxyapatite crystal formation on the tooth surface. Q8TAX7:MUC7; NbExp=2; IntAct=EBI-738687, EBI-738582; Secreted. Secreted by parotid and submandibular glands. Substrate for transglutaminase-2. More than 95% of the cyclized peptide is cyclo-statherin Q-37, and less than 5% is cyclo-statherin Q-39. Cyclized forms account for about 1% of total statherin in saliva. Mass=5380.0; Mass_error=0.3; Method=Electrospray; Range=20-62; Note=With phosphorylated Ser-21 and Ser-22; Source=PubMed:17313100; Mass=5363.0; Mass_error=0.3; Method=Electrospray; Range=20-62; Note=With phosphorylated Ser-21 and Ser-22 and transglutamine cross-link; Source=PubMed:17313100; Belongs to the histatin/statherin family. ossification protein binding extracellular region extracellular matrix constituent, lubricant activity structural constituent of tooth enamel regulation of bone mineralization negative regulation of bone mineralization biomineral tissue development defense response to bacterium saliva secretion hydroxyapatite binding uc003heu.1 uc003heu.2 uc003heu.3 
ENST00000246896.8 HTN1 ENST00000246896.8 Homo sapiens histatin 1 (HTN1), transcript variant 1, mRNA. (from RefSeq NM_002159) ENST00000246896.1 ENST00000246896.2 ENST00000246896.3 ENST00000246896.4 ENST00000246896.5 ENST00000246896.6 ENST00000246896.7 HIS1 HIS1_HUMAN NM_002159 P15515 uc003hex.1 uc003hex.2 uc003hex.3 uc003hex.4 uc003hex.5 This gene encodes a member of the histatin family of small, histidine-rich, cationic proteins. They function as antimicrobial peptides and are important components of the innate immune system. Histatins are found in saliva and exhibit antibacterial, antifungal activities and function in wound healing. [provided by RefSeq, Aug 2014]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BP335073.2, BP334413.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMEA2142853 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246896.8/ ENSP00000246896.3 Protein has antimicrobial activity :: PMID: 2303595 RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## Histatins are salivary proteins that are considered to be major precursors of the protective proteinaceous structure on tooth surfaces (enamel pellicle). In addition, histatins exhibit antibacterial and antifungal activities. Q8TAX7:MUC7; NbExp=2; IntAct=EBI-738638, EBI-738582; Secreted. Submandibular and parotid glands. Depending on the authors, the form called histatin-2 is alternatively a proteolytic product, or the non-phosphorylated form of histatin-1. Mass=4848.2; Mass_error=0.5; Method=Electrospray; Range=20-50; Note=Not post-translationally modified; Source=PubMed:17503797; Mass=4928.2; Mass_error=0.5; Method=Electrospray; Range=20-50; Note=with 1 phosphate group; Source=PubMed:17503797; Mass=5008.6; Mass_error=0.5; Method=Electrospray; Range=20-50; Note=with 1 phosphate group and 1 sulfate group; Source=PubMed:17503797; Mass=5088.4; Mass_error=0.5; Method=Electrospray; Range=20-50; Note=with 1 phosphate group and 2 sulfate groups; Source=PubMed:17503797; Mass=5168.2; Mass_error=0.5; Method=Electrospray; Range=20-50; Note=with 1 phosphate group and 3 sulfate groups; Source=PubMed:17503797; Mass=5247.7; Mass_error=0.5; Method=Electrospray; Range=20-50; Note=with 1 phosphate group and 4 sulfate groups; Source=PubMed:17503797; The recommended nomenclature of salivary peptides follows published guidelines (PubMed:20973643). In agreement with the authors, it has been decided to indicate the boundaries of the peptides according to the positions within the precursor, and not in the mature protein, as has formerly been proposed. Belongs to the histatin/statherin family. protein binding extracellular region extracellular space antimicrobial humoral response biomineral tissue development killing of cells of other organism defense response to bacterium defense response to fungus uc003hex.1 uc003hex.2 uc003hex.3 uc003hex.4 uc003hex.5 
ENST00000246914.10 WNK4 ENST00000246914.10 Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), transcript variant 1, mRNA. (from RefSeq NM_032387) ENST00000246914.1 ENST00000246914.2 ENST00000246914.3 ENST00000246914.4 ENST00000246914.5 ENST00000246914.6 ENST00000246914.7 ENST00000246914.8 ENST00000246914.9 NM_032387 PRKWNK4 Q8N8X3 Q8N8Z2 Q96DT8 Q96J92 Q9BYS5 WNK4_HUMAN uc002ibj.1 uc002ibj.2 uc002ibj.3 uc002ibj.4 uc002ibj.5 This gene encodes a member of the WNK family of serine-threonine protein kinases. The kinase is part of the tight junction complex in kidney cells, and regulates the balance between NaCl reabsorption and K(+) secretion. The kinase regulates the activities of several types of ion channels, cotransporters, and exchangers involved in electrolyte flux in epithelial cells. Mutations in this gene result in pseudohypoaldosteronism type IIB.[provided by RefSeq, Sep 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC136664.1, AJ316534.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246914.10/ ENSP00000246914.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Activates SCNN1A, SCNN1B, SCNN1D, SGK1, TRPV5 and TRPV6. Regulates the activity of the thiazide-sensitive Na-Cl cotransporter, SLC12A3, by phosphorylation which appears to prevent membrane trafficking of SLC12A3. Also inhibits the renal K(+) channel, KCNJ1, via a kinase-independent mechanism by which it induces clearance of the protein from the cell surface by clathrin-dependent endocytosis. WNK4 appears to act as a molecular switch that can vary the balance between NaCl reabsorption and K(+) secretion to maintain integrated homeostasis. Phosphorylates NEDD4L. ATP + a protein = ADP + a phosphoprotein. Magnesium (By similarity). Activation requires autophosphorylation of Ser- 335. Phosphorylation of Ser-331 also promotes increased activity (By similarity). Interacts with the C-terminal region of KCNJ1 (By similarity). Interacts with WNK1 and WNK3 (By similarity). Cell junction, tight junction (By similarity). Note=Present exclusively in intercellular junctions in the distal convoluted tubule and in both the cytoplasm and intercellular junctions in the cortical collecting duct. WNK4 is part of the tight junction complex (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96J92-1; Sequence=Displayed; Name=2; IsoId=Q96J92-2; Sequence=VSP_050648, VSP_050649, VSP_050650, VSP_050651; Note=No experimental confirmation available; Name=3; IsoId=Q96J92-3; Sequence=VSP_050652, VSP_050653; Note=No experimental confirmation available. Incomplete sequence; Expressed in kidney, colon and skin. Phosphorylated by WNK1 and WNK3 (By similarity). Defects in WNK4 are a cause of pseudohypoaldosteronism type 2B (PHA2B) [MIM:614491]. PHAII is an autosomal dominant disease characterized by severe hypertension, hyperkalemia, and sensitivity to thiazide diuretics which may result from a chloride shunt in the renal distal nephron. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. WNK subfamily. Contains 1 protein kinase domain. Cys-203 is present instead of the conserved Lys which is expected to be an active site residue. Lys-186 appears to fulfill the required catalytic function. Sequence=BAC04669.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAC48387.1; Type=Frameshift; Positions=4; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/WNK4"; nucleotide binding protein kinase activity protein serine/threonine kinase activity protein binding ATP binding cytoplasm cytosol bicellular tight junction protein phosphorylation ion transport chloride transport protein localization negative regulation of sodium ion transport membrane kinase activity phosphorylation transferase activity chloride channel inhibitor activity potassium channel inhibitor activity cell junction positive regulation of ion transmembrane transporter activity intracellular signal transduction regulation of cellular process ion homeostasis renal sodium ion absorption distal tubule morphogenesis negative regulation of pancreatic juice secretion positive regulation of potassium ion import positive regulation of sodium ion transmembrane transporter activity uc002ibj.1 uc002ibj.2 uc002ibj.3 uc002ibj.4 uc002ibj.5 
ENST00000246957.10 TRAP1 ENST00000246957.10 Homo sapiens TNF receptor associated protein 1 (TRAP1), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_016292) D3DUC8 ENST00000246957.1 ENST00000246957.2 ENST00000246957.3 ENST00000246957.4 ENST00000246957.5 ENST00000246957.6 ENST00000246957.7 ENST00000246957.8 ENST00000246957.9 HSP75 NM_016292 O43642 O75235 Q12931 Q9UHL5 TRAP1_HUMAN uc002cvt.1 uc002cvt.2 uc002cvt.3 uc002cvt.4 uc002cvt.5 This gene encodes a mitochondrial chaperone protein that is member of the heat shock protein 90 (HSP90) family. The encoded protein has ATPase activity and interacts with tumor necrosis factor type I. This protein may function in regulating cellular stress responses. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]. Chaperone that expresses an ATPase activity. Binds to the intracellular domain of tumor necrosis factor type 1 receptor. Binds to RB1. Mitochondrion. Found in skeletal muscle, liver, heart, brain, kidney, pancreas, lung and placenta. Belongs to the heat shock protein 90 family. Sequence=AAA87704.1; Type=Frameshift; Positions=656; nucleotide binding RNA binding tumor necrosis factor receptor binding protein binding ATP binding nucleoplasm mitochondrion mitochondrial inner membrane mitochondrial intermembrane space mitochondrial matrix protein folding translational attenuation membrane protein kinase binding unfolded protein binding chaperone-mediated protein folding negative regulation of cellular respiration negative regulation of reactive oxygen species biosynthetic process negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide uc002cvt.1 uc002cvt.2 uc002cvt.3 uc002cvt.4 uc002cvt.5 
ENST00000247001.10 SUGP1 ENST00000247001.10 Homo sapiens SURP and G-patch domain containing 1 (SUGP1), mRNA. (from RefSeq NM_172231) ENST00000247001.1 ENST00000247001.2 ENST00000247001.3 ENST00000247001.4 ENST00000247001.5 ENST00000247001.6 ENST00000247001.7 ENST00000247001.8 ENST00000247001.9 NM_172231 O60378 Q6P3X9 Q8IWZ8 Q8TCQ4 Q8WWT4 Q8WWT5 Q9NTG3 SF4 SUGP1_HUMAN uc002nmh.1 uc002nmh.2 uc002nmh.3 uc002nmh.4 uc002nmh.5 SF4 is a member of the SURP family of splicing factors.[supplied by OMIM, Sep 2003]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC142988.1, SRR1803612.120588.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000247001.10/ ENSP00000247001.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Plays a role in pre-mRNA splicing. Component of the spliceosome. Nucleus (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=RNA-binding protein splice variant A; IsoId=Q8IWZ8-1; Sequence=Displayed; Name=2; Synonyms=RNA-binding protein splice variant B; IsoId=Q8IWZ8-2; Sequence=VSP_013109, VSP_013110; Detected in adult testis and heart, and in adult and fetal brain, kidney and skeletal muscle. Contains 1 G-patch domain. Contains 2 SURP motif repeats. Sequence=AAC08052.1; Type=Erroneous gene model prediction; Sequence=AAL68960.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAL68961.1; Type=Erroneous initiation; Note=Translation N-terminally extended; mRNA splicing, via spliceosome nucleic acid binding RNA binding protein binding nucleus nucleoplasm spliceosomal complex RNA processing mRNA processing RNA splicing uc002nmh.1 uc002nmh.2 uc002nmh.3 uc002nmh.4 uc002nmh.5 
ENST00000247003.9 DDX49 ENST00000247003.9 Homo sapiens DEAD-box helicase 49 (DDX49), transcript variant 1, mRNA. (from RefSeq NM_019070) DDX49_HUMAN ENST00000247003.1 ENST00000247003.2 ENST00000247003.3 ENST00000247003.4 ENST00000247003.5 ENST00000247003.6 ENST00000247003.7 ENST00000247003.8 NM_019070 Q53FJ1 Q9Y6V7 uc002nkq.1 uc002nkq.2 uc002nkq.3 uc002nkq.4 ATP + H(2)O = ADP + phosphate. Belongs to the DEAD box helicase family. DDX49/DBP8 subfamily. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain. nucleotide binding nucleic acid binding RNA binding RNA helicase activity helicase activity ATP binding nucleus nucleoplasm rRNA processing hydrolase activity uc002nkq.1 uc002nkq.2 uc002nkq.3 uc002nkq.4 
ENST00000247005.8 GDF1 ENST00000247005.8 Homo sapiens growth differentiation factor 1 (GDF1), mRNA. (from RefSeq NM_001492) ENST00000247005.1 ENST00000247005.2 ENST00000247005.3 ENST00000247005.4 ENST00000247005.5 ENST00000247005.6 ENST00000247005.7 GDF1_HUMAN NM_001492 O43344 P27539 uc060vuk.1 uc060vuk.2 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. Studies in rodents suggest that this protein is involved in the establishment of left-right asymmetry in early embryogenesis and in neural development in later embryogenesis. The encoded protein is translated from a bicistronic mRNA that also encodes ceramide synthase 1. Mutations in this gene are associated with several congenital cardiovascular malformations. [provided by RefSeq, Jul 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## CDS exon combination :: CX871104.1 [ECO:0000331] RNAseq introns :: single sample supports all introns SAMEA2157437 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## bicistronic transcript :: PMID: 2034669 MANE Ensembl match :: ENST00000247005.8/ ENSP00000247005.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May mediate cell differentiation events during embryonic development. Homodimer; disulfide-linked (By similarity). Secreted. Expressed in the brain. Defects in GDF1 are a cause of conotruncal heart malformations (CTHM) [MIM:217095]. A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. Defects in GDF1 are the cause of transposition of the great arteries dextro-looped type 3 (DTGA3) [MIM:613854]. A congenital heart defect consisting of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. The presence or absence of associated cardiac anomalies defines the clinical presentation and surgical management of patients with transposition of the great arteries. Defects in GDF1 are a cause of tetralogy of Fallot (TOF) [MIM:187500]. A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. This protein is produced by a bicistronic gene which also produces the LASS1 protein from a non-overlapping reading frame. Belongs to the TGF-beta family. cytokine activity transforming growth factor beta receptor binding extracellular region extracellular space growth factor activity positive regulation of pathway-restricted SMAD protein phosphorylation BMP signaling pathway regulation of apoptotic process regulation of MAPK cascade cell development SMAD protein signal transduction uc060vuk.1 uc060vuk.2 
ENST00000247020.9 SDF2 ENST00000247020.9 Homo sapiens stromal cell derived factor 2 (SDF2), transcript variant 1, mRNA. (from RefSeq NM_006923) ENST00000247020.1 ENST00000247020.2 ENST00000247020.3 ENST00000247020.4 ENST00000247020.5 ENST00000247020.6 ENST00000247020.7 ENST00000247020.8 NM_006923 Q99470 Q9BQ79 SDF2_HUMAN uc002hbw.1 uc002hbw.2 uc002hbw.3 uc002hbw.4 uc002hbw.5 The protein encoded by this gene is believed to be a secretory protein. It has regions of similarity to hydrophilic segments of yeast mannosyltransferases. Its expression is ubiquitous and the gene appears to be relatively conserved among mammals. Alternate splicing results in both coding and non-coding variants. A pseudogene of this gene is located on chromosome 15. [provided by RefSeq, Dec 2011]. Secreted (Probable). Contains 3 MIR domains. dolichyl-phosphate-mannose-protein mannosyltransferase activity extracellular region extracellular space protein glycosylation membrane protein O-linked mannosylation uc002hbw.1 uc002hbw.2 uc002hbw.3 uc002hbw.4 uc002hbw.5 
ENST00000247026.10 NSRP1 ENST00000247026.10 Homo sapiens nuclear speckle splicing regulatory protein 1 (NSRP1), transcript variant 1, mRNA. (from RefSeq NM_032141) CCDC55 ENST00000247026.1 ENST00000247026.2 ENST00000247026.3 ENST00000247026.4 ENST00000247026.5 ENST00000247026.6 ENST00000247026.7 ENST00000247026.8 ENST00000247026.9 NM_032141 NSRP1_HUMAN NSRP70 Q6FI71 Q9H0G5 uc002heu.1 uc002heu.2 uc002heu.3 uc002heu.4 uc002heu.5 uc002heu.6 RNA-binding protein that mediates pre-mRNA alternative splicing regulation. Interacts (via C-terminus) with SRSF1. Interacts (via C- terminus) with SRSF2. Nucleus. Nucleus speckle. Note=Colocalizes with splicing factors SRSF1 and SRSF2 in speckles. Expressed in dendritic cells, T-cells, B-cells and natural killer cells. Expressed in secondary lymphoid organs such as spleen and mesenteric, axillary and brachial lymph nodes. Up-regulated in motile T-cells. Belongs to the NSRP1 family. regulation of alternative mRNA splicing, via spliceosome RNA binding mRNA binding protein binding nucleus nucleoplasm mRNA processing RNA splicing nuclear speck developmental process ribonucleoprotein complex uc002heu.1 uc002heu.2 uc002heu.3 uc002heu.4 uc002heu.5 uc002heu.6 
ENST00000247138.11 SLC35A2 ENST00000247138.11 Homo sapiens solute carrier family 35 member A2 (SLC35A2), transcript variant 1, mRNA. (from RefSeq NM_005660) A8K2L9 A8K9V1 ENST00000247138.1 ENST00000247138.10 ENST00000247138.2 ENST00000247138.3 ENST00000247138.4 ENST00000247138.5 ENST00000247138.6 ENST00000247138.7 ENST00000247138.8 ENST00000247138.9 NM_005660 P78381 Q8IV21 Q92553 S35A2_HUMAN UGALT UGT UGTL uc004dlo.1 uc004dlo.2 uc004dlo.3 uc004dlo.4 uc004dlo.5 This gene encodes a member of the nucleotide-sugar transporter family. The encoded protein is a multi-pass membrane protein. It transports UDP-galactose from the cytosol into Golgi vesicles, where it serves as a glycosyl donor for the generation of glycans. Mutations in this gene cause congenital disorder of glycosylation type IIm (CDG2M). Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2014]. Transports nucleotide sugars from the cytosol into Golgi vesicles where glycosyltransferases function. Golgi apparatus membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=3; Name=UGT2; IsoId=P78381-1; Sequence=Displayed; Name=UGT1; IsoId=P78381-2; Sequence=VSP_003728; Name=3; IsoId=P78381-3; Sequence=VSP_042029; Belongs to the nucleotide-sugar transporter family. SLC35A subfamily. Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; Golgi membrane UDP-galactose transmembrane transporter activity protein binding nucleus endoplasmic reticulum Golgi apparatus galactose metabolic process carbohydrate transport pyrimidine nucleotide-sugar transmembrane transporter activity membrane integral component of membrane integral component of Golgi membrane UDP-galactose transmembrane transport pyrimidine nucleotide-sugar transmembrane transport uc004dlo.1 uc004dlo.2 uc004dlo.3 uc004dlo.4 uc004dlo.5 
ENST00000247178.6 ATG14 ENST00000247178.6 Homo sapiens autophagy related 14 (ATG14), mRNA. (from RefSeq NM_014924) A6NJE4 A8K9U5 B7ZWP5 BAKOR_HUMAN ENST00000247178.1 ENST00000247178.2 ENST00000247178.3 ENST00000247178.4 ENST00000247178.5 KIAA0831 NM_014924 O94920 Q32MK7 Q32MK8 Q6ZNE5 uc001xbx.1 uc001xbx.2 uc001xbx.3 uc001xbx.4 Required for both basal and inducible autophagy. Plays a role in autophagosome formation and MAP1LC3/LC3 conjugation to phosphatidylethanolamine. Promotes BECN1 translocation from the trans-Golgi network to autophagosomes. Enhances PIK3C3 activity in a BECN1-dependent manner (By similarity). Forms a complex with BECN1, PIK3C3 and PIK3R4, but not with UVRAG, nor with KIAA0226/Rubicon. UVRAG and ATG14/Barkor form mutually exclusive complexes with BECN1 through direct competition. The complex containing ATG14 up-regulates autophagy, while the one containing Rubicon down-regulates autophagy (By similarity). Interacts with PIK3CB (By similarity). Cytoplasm. Endoplasmic reticulum. Note=Cytosolic under nutrient-rich conditions. Following autophagy stimuli, such as starvation or rapamycin induction, predominantly detected in cytoplasmic foci, identified as isolation membranes and autophagosomes. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6ZNE5-1; Sequence=Displayed; Name=2; IsoId=Q6ZNE5-2; Sequence=VSP_013931; The coiled-coil domain is required for BECN1- and PIK3C3- binding and for autophagy. Belongs to the Barkor family. Sequence=BAA74854.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; autophagosome assembly autophagosome membrane macromitophagy regulation of protein phosphorylation negative regulation of protein phosphorylation positive regulation of protein phosphorylation protein binding cytoplasm autophagosome endoplasmic reticulum endoplasmic reticulum membrane cytosol axoneme autophagy endosome to lysosome transport cellular response to starvation posttranscriptional regulation of gene expression membrane macroautophagy autophagosome docking cytoplasmic vesicle pre-autophagosomal structure membrane phosphatidylinositol 3-kinase complex, class III cellular response to glucose starvation positive regulation of phosphatidylinositol 3-kinase activity ER-mitochondrion membrane contact site phagocytic vesicle GTPase binding regulation of protein complex stability regulation of triglyceride metabolic process extrinsic component of omegasome membrane extrinsic component of pre-autophagosomal structure membrane response to mitochondrial depolarisation uc001xbx.1 uc001xbx.2 uc001xbx.3 uc001xbx.4 
ENST00000247191.7 DLGAP5 ENST00000247191.7 Homo sapiens DLG associated protein 5 (DLGAP5), transcript variant 1, mRNA. (from RefSeq NM_014750) DLG7 DLGP5_HUMAN ENST00000247191.1 ENST00000247191.2 ENST00000247191.3 ENST00000247191.4 ENST00000247191.5 ENST00000247191.6 KIAA0008 NM_014750 Q15398 Q8NG58 uc001xbs.1 uc001xbs.2 uc001xbs.3 uc001xbs.4 uc001xbs.5 Potential cell cycle regulator that may play a role in carcinogenesis of cancer cells. Mitotic phosphoprotein regulated by the ubiquitin-proteasome pathway. Key regulator of adherens junction integrity and differentiation that may be involved in CDH1-mediated adhesion and signaling in epithelial cells. Interacts with CDK1. Interacts with the C-terminal proline-rich region of FBXO7. Recruited by FBXO7 to a SCF (SKP1- CUL1-F-box) protein complex in a CDK1/Cyclin B-phosphorylation dependent manner. Interacts with CDH1. Nucleus. Cytoplasm. Cytoplasm, cytoskeleton, spindle. Note=Localizes to the spindle in mitotic cells. Colocalizes with CDH1 at sites of cell-cell contact in intestinal epithelial cells. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q15398-2; Sequence=Displayed; Name=2; IsoId=Q15398-1; Sequence=VSP_015550; Note=No experimental confirmation available; Abundantly expressed in fetal liver. Expressed at lower levels in bone marrow, testis, colon, and placenta. Elevated levels of expression detected in the G2/M phase of synchronized cultures of HeLa cells. Ubiquitinated, leading to its degradation. Phosphorylated upon DNA damage, probably by ATM or ATR. Decreased phosphorylation levels are associated with the differentiation of intestinal epithelial cells. Belongs to the SAPAP family. It was localized to the spindle and the spindle pole (PubMed:12527899) but was later found to be localized to the spindle and to be excluded from the spindle pole (PubMed:15561729). Sequence=BAA02797.3; Type=Erroneous initiation; Note=Translation N-terminally shortened; phosphoprotein phosphatase activity protein binding nucleus cytoplasm mitochondrion microtubule organizing center spindle cytosol cytoskeleton protein dephosphorylation cell cycle mitotic chromosome movement towards spindle pole positive regulation of transcription of Notch receptor target cell proliferation signaling spindle pole centrosome positive regulation of mitotic metaphase/anaphase transition uc001xbs.1 uc001xbs.2 uc001xbs.3 uc001xbs.4 uc001xbs.5 
ENST00000247194.9 L3HYPDH ENST00000247194.9 Homo sapiens trans-L-3-hydroxyproline dehydratase (L3HYPDH), transcript variant 8, non-coding RNA. (from RefSeq NR_138575) C14orf149 ENST00000247194.1 ENST00000247194.2 ENST00000247194.3 ENST00000247194.4 ENST00000247194.5 ENST00000247194.6 ENST00000247194.7 ENST00000247194.8 NR_138575 Q96EM0 Q96LJ5 T3HPD_HUMAN uc001xee.1 uc001xee.2 uc001xee.3 The protein encoded by this gene is a dehydratase that converts trans-3-hydroxy-L-proline to delta(1)-pyrroline-2-carboxylate. This enzyme may function to degrade dietary proteins that contain trans-3-hydroxy-L-proline as well as other proteins such as collagen IV. The encoded protein can be converted to an epimerase by changing a threonine to a cysteine at a catalytic site. [provided by RefSeq, Sep 2016]. Catalyzes the dehydration of trans-3-hydroxy-L-proline to delta-1-pyrroline-2-carboxylate (Pyr2C). May be required to degrade trans-3-hydroxy-L-proline from the diet and originating from the degradation of proteins such as collagen-IV that contain it. Trans-3-hydroxy-L-proline = 1-pyrroline 2- carboxylate + H(2)O. Kinetic parameters: KM=7.23 mM for trans-3-hydroxy-L-proline; Vmax=39.5 umol/min/mg enzyme; pH dependence: Optimum pH is 8.0; Homodimer (By similarity). Ubiquitously expressed. In contrast to the T.cruzi proline racemase enzyme, lacks the conserved Cys at position 273 which is replaced by a Thr residue, transforming the racemase activity into dehydratase activity (PubMed:22528483). Belongs to the proline racemase family. lyase activity hydro-lyase activity trans-L-3-hydroxyproline dehydratase activity proline racemase activity uc001xee.1 uc001xee.2 uc001xee.3 
ENST00000247219.6 TBPL2 ENST00000247219.6 Homo sapiens TATA-box binding protein like 2 (TBPL2), mRNA. (from RefSeq NM_199047) ENST00000247219.1 ENST00000247219.2 ENST00000247219.3 ENST00000247219.4 ENST00000247219.5 NM_199047 Q17RU8 Q6SJ96 TBP2 TBPL2_HUMAN TRF3 uc001xby.1 uc001xby.2 uc001xby.3 uc001xby.4 uc001xby.5 uc001xby.6 Transcription factor required in complex with TAF3 for the differentiation of myoblasts into myocytes. The complex replaces TFIID at specific promoters at an early stage in the differentiation process (By similarity). Interacts with TAF3 (By similarity). Cytoplasm. Nucleus. Note=Present in the cytoplasm during cytokenesis. Ubiquitously expressed in all tissues examined with highest levels in heart, lung, ovary, spleen and testes. Belongs to the TBP family. transcription factor TFIIIB complex RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II core promoter sequence-specific DNA binding RNA polymerase III regulatory region DNA binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus transcription factor complex transcription factor TFIID complex cytoplasm DNA-templated transcription, initiation transcription from RNA polymerase II promoter multicellular organism development transcription factor binding negative regulation of transcription, DNA-templated RNA polymerase III transcriptional preinitiation complex assembly uc001xby.1 uc001xby.2 uc001xby.3 uc001xby.4 uc001xby.5 uc001xby.6 
ENST00000247225.7 SGPP1 ENST00000247225.7 Homo sapiens sphingosine-1-phosphate phosphatase 1 (SGPP1), mRNA. (from RefSeq NM_030791) B2RAH0 ENST00000247225.1 ENST00000247225.2 ENST00000247225.3 ENST00000247225.4 ENST00000247225.5 ENST00000247225.6 NM_030791 Q9BX95 Q9H189 SGPP1_HUMAN uc001xgj.1 uc001xgj.2 uc001xgj.3 uc001xgj.4 uc001xgj.5 uc001xgj.6 Sphingosine-1-phosphate (S1P) is a bioactive sphingolipid metabolite that regulates diverse biologic processes. SGPP1 catalyzes the degradation of S1P via salvage and recycling of sphingosine into long-chain ceramides (Mandala et al., 2000 [PubMed 10859351]; Le Stunff et al., 2007 [PubMed 17895250]).[supplied by OMIM, Jun 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC070060.1, SRR1660809.241567.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA2149876 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000247225.7/ ENSP00000247225.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Has enzymatic activity against both sphingosine 1- phosphate (S1P) and dihydro-S1P. Regulates intracellular and extracellular S1P levels. Endoplasmic reticulum membrane; Multi-pass membrane protein. Ubiquitous, with the strongest level in placenta and kidney. Belongs to the type 2 lipid phosphate phosphatase family. nucleus nucleoplasm endoplasmic reticulum endoplasmic reticulum membrane plasma membrane sphingolipid metabolic process sphinganine-1-phosphate metabolic process sphingosine metabolic process membrane integral component of membrane dephosphorylation hydrolase activity sphingolipid biosynthetic process ER to Golgi ceramide transport sphingosine-1-phosphate phosphatase activity regulation of keratinocyte differentiation regulation of epidermis development extrinsic apoptotic signaling pathway intrinsic apoptotic signaling pathway uc001xgj.1 uc001xgj.2 uc001xgj.3 uc001xgj.4 uc001xgj.5 uc001xgj.6 
ENST00000247226.13 PLEKHG3 ENST00000247226.13 Homo sapiens pleckstrin homology and RhoGEF domain containing G3 (PLEKHG3), mRNA. (from RefSeq NM_001308147) A1L389 A1L390 B5MEC9 ENST00000247226.1 ENST00000247226.10 ENST00000247226.11 ENST00000247226.12 ENST00000247226.2 ENST00000247226.3 ENST00000247226.4 ENST00000247226.5 ENST00000247226.6 ENST00000247226.7 ENST00000247226.8 ENST00000247226.9 KIAA0599 NM_001308147 O60339 PKHG3_HUMAN Q6GMS3 Q6P4B1 Q7L3S3 Q86SW7 Q8TEF5 Q96EW6 Q9BT82 uc001xho.1 uc001xho.2 uc001xho.3 uc001xho.4 Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=A1L390-1; Sequence=Displayed; Name=2; IsoId=A1L390-2; Sequence=VSP_028533, VSP_041513; Name=3; IsoId=A1L390-3; Sequence=VSP_028534; Note=No experimental confirmation available; Contains 1 DH (DBL-homology) domain. Contains 1 PH domain. Sequence=BAB84995.1; Type=Miscellaneous discrepancy; Note=Intron retention. There are two regions of intron retention within the sequence which cause it to shift frame; Sequence=CAD66586.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Rho guanyl-nucleotide exchange factor activity regulation of Rho protein signal transduction uc001xho.1 uc001xho.2 uc001xho.3 uc001xho.4 
ENST00000247271.5 OMG ENST00000247271.5 Homo sapiens oligodendrocyte myelin glycoprotein (OMG), mRNA. (from RefSeq NM_002544) E1P659 ENST00000247271.1 ENST00000247271.2 ENST00000247271.3 ENST00000247271.4 NM_002544 OMGP OMGP_HUMAN P23515 uc002hgj.1 uc002hgj.2 uc002hgj.3 uc002hgj.4 uc002hgj.5 Cell adhesion molecule contributing to the interactive process required for myelination in the central nervous system. Binds to RTN4R (By similarity). Cell membrane; Lipid-anchor, GPI-anchor. Oligodendrocytes and myelin of the central nervous system. O-glycosylated in its Ser/Thr-rich repeat domain (Potential). Contains 8 LRR (leucine-rich) repeats. Contains 1 LRRNT domain. Do not confuse oligodendrocyte-myelin glycoprotein (OMG) with myelin-oligodendrocyte glycoprotein (MOG). plasma membrane cell adhesion membrane neuron projection regeneration anchored component of membrane negative regulation of axonogenesis uc002hgj.1 uc002hgj.2 uc002hgj.3 uc002hgj.4 uc002hgj.5 
ENST00000247291.8 AIF1L ENST00000247291.8 Homo sapiens allograft inflammatory factor 1 like (AIF1L), transcript variant 1, mRNA. (from RefSeq NM_031426) AIF1L_HUMAN B2RBC4 C9orf58 ENST00000247291.1 ENST00000247291.2 ENST00000247291.3 ENST00000247291.4 ENST00000247291.5 ENST00000247291.6 ENST00000247291.7 IBA2 NM_031426 Q6ZR40 Q8NAX7 Q8WU47 Q9BQI0 Q9H9G0 UNQ672/PRO1306 uc004cab.1 uc004cab.2 uc004cab.3 uc004cab.4 Actin-binding protein that promotes actin bundling. May neither bind calcium nor depend on calcium for function. Homodimer (Potential). Monomer. Cytoplasm, cytoskeleton. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Note=Colocalizes with F-actin. Partially relocates to membrane ruffles in response to invading bacteria. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9BQI0-1; Sequence=Displayed; Name=2; IsoId=Q9BQI0-2; Sequence=VSP_017150; Name=3; IsoId=Q9BQI0-3; Sequence=VSP_017151; Name=4; IsoId=Q9BQI0-4; Sequence=VSP_017152, VSP_017153; Note=No experimental confirmation available; Contains 2 EF-hand domains. actin binding calcium ion binding cytoplasm cytoskeleton plasma membrane focal adhesion actin cytoskeleton membrane ruffle membrane macromolecular complex cell projection metal ion binding actin filament binding actin filament bundle assembly extracellular exosome ruffle assembly actin filament uc004cab.1 uc004cab.2 uc004cab.3 uc004cab.4 
ENST00000247452.4 MAGEC2 ENST00000247452.4 Homo sapiens MAGE family member C2 (MAGEC2), mRNA. (from RefSeq NM_016249) ENST00000247452.1 ENST00000247452.2 ENST00000247452.3 HCA587 MAGC2_HUMAN MAGEE1 NM_016249 Q5JZ00 Q96D45 Q9P1M6 Q9P1M7 Q9UBF1 uc004fbu.1 uc004fbu.2 uc004fbu.3 uc004fbu.4 This gene is a member of the MAGEC gene family. It is not expressed in normal tissues, except for testis, and is expressed in tumors of various histological types. This gene and the other MAGEC genes are clustered on chromosome Xq26-q27. [provided by RefSeq, Oct 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BP283302.1, BC013318.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000247452.4/ ENSP00000354660.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Proposed to enhance ubiquitin ligase activity of RING- type zinc finger-containing E3 ubiquitin-protein ligases. In vitro enhances ubiquitin ligase activity of TRIM28 and stimulates p53/TP53 ubiquitination in presence of Ubl-conjugating enzyme UBE2H leading to p53/TP53 degradation. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzymes (E2) at the E3:substrate complex. Interacts with TRIM28 and UBE2H. P04637:TP53; NbExp=3; IntAct=EBI-5651487, EBI-366083; Q13263:TRIM28; NbExp=14; IntAct=EBI-5651487, EBI-78139; P62256:UBE2H; NbExp=3; IntAct=EBI-5651487, EBI-2129909; Cytoplasm. Nucleus. Note=Nuclear in germ cells. Cytoplasmic in well-differentiated hepatocellular carcinoma, nuclear in moderately- and poorly-differentiated hepatocellular carcinoma. Not expressed in normal tissues, except in germ cells in the seminiferous tubules and in Purkinje cells of the cerebellum. Expressed in various tumors, including melanoma, lymphoma, as well as pancreatic cancer, mammary gland cancer, non- small cell lung cancer and liver cancer. In hepatocellular carcinoma, there is a inverse correlation between tumor differentiation and protein expression, i.e. the lower the differentiation, the higher percentage of expression. Strongly expressed in spermatogonia and primary spermatocytes. At later stages of maturation, expression gradually decreases and becomes undetectable in mature spermatids. Contains 1 MAGE domain. protein binding nucleus nucleolus cytoplasm cytosol ubiquitin protein ligase binding cellular protein catabolic process positive regulation of ubiquitin-protein transferase activity uc004fbu.1 uc004fbu.2 uc004fbu.3 uc004fbu.4 
ENST00000247470.10 PYCARD ENST00000247470.10 Homo sapiens PYD and CARD domain containing (PYCARD), transcript variant 1, mRNA. (from RefSeq NM_013258) ASC ASC_HUMAN CARD5 ENST00000247470.1 ENST00000247470.2 ENST00000247470.3 ENST00000247470.4 ENST00000247470.5 ENST00000247470.6 ENST00000247470.7 ENST00000247470.8 ENST00000247470.9 NM_013258 Q96D12 Q9BSZ5 Q9HBD0 Q9NXJ8 Q9ULZ3 TMS1 uc010cak.1 uc010cak.2 uc010cak.3 uc010cak.4 uc010cak.5 This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are members of the six-helix bundle death domain-fold superfamily that mediates assembly of large signaling complexes in the inflammatory and apoptotic signaling pathways via the activation of caspase. In normal cells, this protein is localized to the cytoplasm; however, in cells undergoing apoptosis, it forms ball-like aggregates near the nuclear periphery. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Functions as key mediator in apoptosis and inflammation. Promotes caspase-mediated apoptosis involving predominantly caspase-8 and also caspase-9 in a probable cell type-specific manner. Involved in activation of the mitochondrial apoptotic pathway, promotes caspase-8-dependent proteolytic maturation of BID independently of FADD in certain cell types and also mediates mitochondrial translocation of BAX and activates BAX-dependent apoptosis coupled to activation of caspase-9, -2 and -3. Involved in macrophage pyroptosis, a caspase-1-dependent inflammatory form of cell death and is the major constituent of the ASC pyroptosome which forms upon potassium depletion and rapidly recruits and activates caspase-1. In innate immune response believed to act as an integral adapter in the assembly of the inflammasome which activates caspase-1 leading to processing and secretion of proinflammatory cytokines. The function as activating adapter in different types of inflammasomes is mediated by the DAPIN and CARD domains and their homotypic interactions. Required for recruitment of caspase-1 to inflammasomes containing certain pattern recognition receptors, such as NLRP2, NLRP3, AIM2 and probably IFI16. In the NLRP1 and NLRC4 inflammasomes seems not be required but facilitates the processing of procaspase-1. In cooperation with NOD2 involved in an inflammasome activated by bacterial muramyl dipeptide leading to caspase-1 activation. May be involved in DDX58-triggered proinflammatory responses and inflammasome activation. Isoform 2 may have a regulating effect on the function as inflammasome adapter. Isoform 3 seems to inhibit inflammasome- mediated maturation of interleukin-1 beta. In collaboration with AIM2 which detects cytosolic double-stranded DNA may also be involved in a caspase-1-independent cell death that involves caspase-8. In adaptive immunity may be involved in maturation of dendritic cells to stimulate T cell immunity and in cytoskeletal rearrangements coupled to chemotaxis and antigen uptake may be involved in post-transcriptional regulation of the guanine nucleotide exchange factor DOCK2; the latter function is proposed to involve the nuclear form. Also involved in transcriptional activation of cytokines and chemokines independent of the inflammasome; this function may involve AP-1, NF-kappa-B, MAPK and caspase-8 signaling pathways. For regulation of NF-kappa-B activating and inhibiting functions have been reported. Modulates NF-kappa-B induction at the level of the IKK complex by inhibiting kinase activity of CHUK and IKBK. Proposed to compete with RIPK2 for association with CASP1 thereby down-regulating CASP1-mediated RIPK2-dependent NF-kappa-B activation and activating interleukin-1 beta processing. Self-associates; enforced oligomerization induces apoptosis, NF-kappa-B regulation and interleukin-1 beta seceretion. Homooligomers can form disk-like particles of approximately 12 nm diameter and approximately 1 nm height. Next to isorm 1 also isoform 2 and isoform 3 may be involved in oligomerization leading to functional regulation. Component of several inflammasomes containing one pattern recognition receptor/sensor, such as NLRP1, NLRP2, NLRP3, AIM2, MEFV or NOD2, and probably NLRC4, NLRP12 or IFI16. Major component of the ASC pyroptosome, a 1-2 um supramolecular assembly (one per macrophage cell) which consists of oligomerized PYCARD dimers and CASP1. Interacts with CASP1 (precursor form); the interaction induces activation of CASP1 leading to the processing of interleukin-1 beta; PYCARD competes with RIPK2 for binding to CASP1. Interacts with NLRP3; the interaction requires the homooligomerization of NLRP3. Interacts with NLRP2, NLRC4, MEFV, CARD16, AIM2, IFI16, NOD2, DDX58, RIPK2, PYDC1, PYDC2, NLRP10, CASP8, CHUK, IKBKB and BAX. O14862:AIM2; NbExp=4; IntAct=EBI-751215, EBI-6253193; Q07812:BAX; NbExp=7; IntAct=EBI-751215, EBI-516580; Q9C000:NLRP1; NbExp=5; IntAct=EBI-751215, EBI-1220518; Q96P20:NLRP3; NbExp=4; IntAct=EBI-751215, EBI-6253230; Cytoplasm. Endoplasmic reticulum. Mitochondrion. Nucleus. Note=Upstream of caspase activation, a redistribution from the cytoplasm to the aggregates occurs. These appear as hollow, perinuclear spherical, ball-like structures. Upon NLRP3 inflammasome activation redistributes to the perinuclear space localizing to endoplasmic reticulum and mitochondria. Localized primarily to the nucleus in resting monocytes/macrophages and rapidly redistributed to the cytoplasm upon pathogen infection. Localized to large cytoplasmic aggregate appearing as a speck containing AIM2, PYCARD, CASP8 and bacterial DNA after infection with Francisella tularensis (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=fASC; IsoId=Q9ULZ3-1; Sequence=Displayed; Name=2; Synonyms=Asc-b, vASC; IsoId=Q9ULZ3-2; Sequence=VSP_004119; Name=3; Synonyms=Asc-c; IsoId=Q9ULZ3-3; Sequence=VSP_004118; Note=No experimental confirmation available; Widely expressed at low levels. Detected in peripheral blood leukocytes, lung, small intestine, spleen, thymus, colon and at lower levels in placenta, liver and kidney. Very low expression in skeletal muscle, heart and brain. Detected in the leukemia cell lines HL-60 and U-937, but not in Jurkat T- cell lymphoma and Daudi Burkitt's lymphoma. Detected in the melanoma cell line WM35, but not in WM793. Not detected in HeLa cervical carcinoma cells and MOLT-4 lymphocytic leukemia cells. The DAPIN domain mediates homotypic interactions with DAPIN domains of proteins such as of NLRP3, PYDC1 and AIM2 (PubMed:11786556, PubMed:12656673, PubMed:19158676 and PubMed:19158675). The CARD domain mediates interaction with CASP1 and NLRC4 (PubMed:14634131 and PubMed:11967258). Phosphorylated. In breast tumorigenesis, methylation-mediated silencing may affect genes and proteins that act as positive mediators of cell death. Contains 1 CARD domain. Contains 1 DAPIN domain. Sequence=BAA91012.1; Type=Frameshift; Positions=4; Golgi membrane myeloid dendritic cell activation protease binding activation of innate immune response positive regulation of defense response to virus by host myeloid dendritic cell activation involved in immune response immune system process positive regulation of antigen processing and presentation of peptide antigen via MHC class II positive regulation of adaptive immune response cysteine-type endopeptidase activity interleukin-6 receptor binding protein binding tropomyosin binding extracellular region nucleus nucleolus cytoplasm mitochondrion endoplasmic reticulum Golgi apparatus cytosol proteolysis apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process inflammatory response signal transduction IkappaB kinase complex cysteine-type endopeptidase activator activity involved in apoptotic process response to bacterium regulation of autophagy regulation of tumor necrosis factor-mediated signaling pathway membrane myosin I binding enzyme binding positive regulation of actin filament polymerization regulation of protein stability negative regulation of NF-kappaB transcription factor activity Pyrin domain binding interleukin-1 beta production negative regulation of interferon-beta production positive regulation of interferon-gamma production positive regulation of interleukin-1 beta production positive regulation of interleukin-6 production positive regulation of tumor necrosis factor production macromolecular complex tumor necrosis factor-mediated signaling pathway secretory granule lumen azurophil granule lumen positive regulation of activated T cell proliferation intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator identical protein binding protein homodimerization activity regulation of apoptotic process neuronal cell body positive regulation of apoptotic process regulation of GTPase activity negative regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of cysteine-type endopeptidase activity involved in apoptotic process regulation of cysteine-type endopeptidase activity involved in apoptotic process neutrophil degranulation ion channel binding macropinocytosis innate immune response positive regulation of JNK cascade protein dimerization activity positive regulation of interleukin-1 beta secretion regulation of inflammatory response positive regulation of phagocytosis defense response to Gram-negative bacterium positive regulation of T cell activation positive regulation of sequence-specific DNA binding transcription factor activity positive regulation of NF-kappaB transcription factor activity protein homooligomerization defense response to virus positive regulation of ERK1 and ERK2 cascade BMP receptor binding cellular response to lipopolysaccharide cellular response to interleukin-1 cellular response to tumor necrosis factor negative regulation of protein serine/threonine kinase activity intrinsic apoptotic signaling pathway by p53 class mediator NLRP1 inflammasome complex NLRP3 inflammasome complex positive regulation of chemokine secretion positive regulation of release of cytochrome c from mitochondria cysteine-type endopeptidase activity involved in apoptotic process AIM2 inflammasome complex extrinsic apoptotic signaling pathway in absence of ligand activation of cysteine-type endopeptidase activity negative regulation of cytokine production involved in inflammatory response positive regulation of T cell migration positive regulation of interleukin-8 secretion positive regulation of interleukin-6 secretion positive regulation of cysteine-type endopeptidase activity positive regulation of interleukin-10 secretion positive regulation of extrinsic apoptotic signaling pathway regulation of intrinsic apoptotic signaling pathway uc010cak.1 uc010cak.2 uc010cak.3 uc010cak.4 uc010cak.5 
ENST00000247655.4 COX7C ENST00000247655.4 Homo sapiens cytochrome c oxidase subunit 7C (COX7C), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001867) COX7C_HUMAN ENST00000247655.1 ENST00000247655.2 ENST00000247655.3 NM_001867 P15954 Q6NR81 uc003kir.1 uc003kir.2 uc003kir.3 uc003kir.4 uc003kir.5 Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIc, which shares 87% and 85% amino acid sequence identity with mouse and bovine COX VIIc, respectively, and is found in all tissues. A pseudogene COX7CP1 has been found on chromosome 13. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: CD175575.1, SRR5189667.237129.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000247655.4/ ENSP00000247655.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. Mitochondrion inner membrane (By similarity). Belongs to the cytochrome c oxidase VIIc family. cytochrome-c oxidase activity mitochondrion mitochondrial inner membrane generation of precursor metabolites and energy mitochondrial electron transport, cytochrome c to oxygen membrane integral component of membrane hydrogen ion transmembrane transport uc003kir.1 uc003kir.2 uc003kir.3 uc003kir.4 uc003kir.5 
ENST00000247665.12 PHPT1 ENST00000247665.12 Homo sapiens phosphohistidine phosphatase 1 (PHPT1), transcript variant 7, non-coding RNA. (from RefSeq NR_109808) ENST00000247665.1 ENST00000247665.10 ENST00000247665.11 ENST00000247665.2 ENST00000247665.3 ENST00000247665.4 ENST00000247665.5 ENST00000247665.6 ENST00000247665.7 ENST00000247665.8 ENST00000247665.9 NR_109808 V9HWC4 uc004cjq.1 uc004cjq.2 uc004cjq.3 uc004cjq.4 uc004cjq.5 uc004cjq.6 uc004cjq.7 This gene encodes an enzyme that catalyzes the reversible dephosphorylation of histidine residues in proteins. It may be involved in the dephosphorylation of G-beta and ATP citrate lyase and in negatively regulating CD4 T lymphocytes by dephosphorylation and inhibition of KCa3.1 channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BG253919.1, SRR1163657.187976.1 [ECO:0000332] ##Evidence-Data-END## uc004cjq.1 uc004cjq.2 uc004cjq.3 uc004cjq.4 uc004cjq.5 uc004cjq.6 uc004cjq.7 
ENST00000247668.7 TRAF2 ENST00000247668.7 Homo sapiens TNF receptor associated factor 2 (TRAF2), mRNA. (from RefSeq NM_021138) A8K107 B4DPJ7 ENST00000247668.1 ENST00000247668.2 ENST00000247668.3 ENST00000247668.4 ENST00000247668.5 ENST00000247668.6 NM_021138 Q12933 Q7Z337 Q96NT2 TRAF2_HUMAN TRAP3 uc004cjv.1 uc004cjv.2 uc004cjv.3 uc004cjv.4 uc004cjv.5 The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from members of the TNF receptor superfamily. This protein directly interacts with TNF receptors, and forms a heterodimeric complex with TRAF1. This protein is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF1 interacts with the inhibitor-of-apoptosis proteins (IAPs), and functions as a mediator of the anti-apoptotic signals from TNF receptors. The interaction of this protein with TRADD, a TNF receptor associated apoptotic signal transducer, ensures the recruitment of IAPs for the direct inhibition of caspase activation. BIRC2/c-IAP1, an apoptosis inhibitor possessing ubiquitin ligase activity, can unbiquitinate and induce the degradation of this protein, and thus potentiate TNF-induced apoptosis. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of only one transcript has been determined. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC043492.1, SRR1803611.110533.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000247668.7/ ENSP00000247668.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Regulates activation of NF-kappa-B and JNK and plays a central role in the regulation of cell survival and apoptosis. Required for normal antibody isotype switching from IgM to IgG. Has E3 ubiquitin-protein ligase activity and promotes 'Lys-63'- linked ubiquitination of target proteins, such as BIRC3, RIPK1 and TICAM1. Is an essential constituent of several E3 ubiquitin- protein ligase complexes, where it promotes the ubiquitination of target proteins by bringing them into contact with other E3 ubiquitin ligases. Regulates BIRC2 and BIRC3 protein levels by inhibiting their autoubiquitination and subsequent degradation; this does not depend on the TRAF2 RING-type zinc finger domain. Has very low E3 ubiquitin ligase activity in the absence of sphingosine-1-phosphate. E3 ubiquitin ligase activity is strongly activated by cytoplasmic sphingosine-1- phosphate. Protein modification; protein ubiquitination. Homotrimer, and heterotrimer with TRAF1 and TRAF3 (via TRAF domain). The domain containing the RING-type and the first TRAF-type zinc finger can also form homodimers (in vitro). Interacts with TNFRSF1B/TNFR2, TNFRSF4, TNFRSF5/CD40, CD27/TNFRSF7, TNFRSF8/CD30, TNFRSF9/CD137, TNFRSF11A/RANK, TNFRSF13B/TACI, TNFRSF14, TNFRSF16/NGFR, TNFRSF17/BCMA, TNFRSF18/AITR, TNFRSF19/TROY, TNFRSF19L/RELT, XEDAR, EDAR, Epstein-Barr virus BNFL1/LMP-1 and IL15RA. Interacts with CDK9, CSK, MAP3K1, MAP3K5, MAP3K11, MAP3K14, MAP4K2, RIPK1, RIPK2, TNIK, TBK1, SPHK1, TRADD, TRAFD1, TRAIP, TANK/ITRAF, TNFAIP3, TDP2, MAVS/IPS1, TICAM1 and TRPC4AP. Interacts with CASP8AP2, NFATC2IP, PEG3 and HIVEP3 (By similarity). Interacts with BIRC2 and BIRC3 N- terminus; a single BIRC2 or BIRC3 molecule interacts with a heterotrimer formed by TRAF1 and TRAF2, or a TRAF2 homotrimer. Identified in a complex composed of TRAF2, TRAF3, BIRC2 and BIRC3. Interaction with BIRC2 and/or BIRC3 is essential for degradation of NFKBIA and activation of NF-kappa-B. Interacts with CYLD, USP48, DAB2IP, IKKA and IKKB. Identified in a complex with TNFRSF1A, RIPK1 and IKKB. Interacts (via 'Lys-63'-linked polyubiquitin chains) with TAB2 and TAB3. Interacts with ERN1 and TAOK3. Interaction with TAOK3 is facilitated under ER stress conditions, such as treatment with tunicamycin, and may promote TRAF2 phosphorylation. Self; NbExp=3; IntAct=EBI-355744, EBI-355744; P54253:ATXN1; NbExp=2; IntAct=EBI-355744, EBI-930964; Q13490:BIRC2; NbExp=8; IntAct=EBI-355744, EBI-514538; Q13489:BIRC3; NbExp=5; IntAct=EBI-355744, EBI-517709; O08736:Casp12 (xeno); NbExp=6; IntAct=EBI-355744, EBI-6140033; O75460:ERN1; NbExp=2; IntAct=EBI-355744, EBI-371750; P09211:GSTP1; NbExp=4; IntAct=EBI-355744, EBI-353467; P07174:Ngfr (xeno); NbExp=3; IntAct=EBI-355744, EBI-1038810; Q92844:TANK; NbExp=3; IntAct=EBI-355744, EBI-356349; Q9H2K8:TAOK3; NbExp=2; IntAct=EBI-355744, EBI-1384100; Q9NP84:TNFRSF12A; NbExp=3; IntAct=EBI-355744, EBI-2851995; Q92956:TNFRSF14; NbExp=4; IntAct=EBI-355760, EBI-1056653; P70191:Traf5 (xeno); NbExp=2; IntAct=EBI-355744, EBI-523899; Q6FIF0:ZFAND6; NbExp=6; IntAct=EBI-355744, EBI-724630; Cytoplasm. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q12933-1; Sequence=Displayed; Name=2; IsoId=Q12933-2; Sequence=VSP_007401; Note=No experimental confirmation available; Name=3; IsoId=Q12933-3; Sequence=VSP_039687; Note=No experimental confirmation available; Name=4; IsoId=Q12933-4; Sequence=VSP_039688; Note=No experimental confirmation available; The coiled coil domain mediates homo- and hetero- oligomerization. The MATH/TRAF domain binds to receptor cytoplasmic domains. The RING-type zinc finger domain is essential for E3 ubiquitin-protein ligase activity. It is not essential for the stabilization of BIRC2, or for the ubiquitination of RIPK1 in response to TNFR1 signaling. Phosphorylated at several serine residues within the first 128 amino acid residues. Phosphorylated at Thr-117 in response to signaling via TNF and TNFRSF1A. Phosphorylation at Thr-117 is required for 'Lys-63'-linked polyubiquitination, but not for 'Lys- 48'-linked polyubiquitination. Phosphorylation at Thr-117 is important for interaction with IKKA and IKKB, activation of IKK and subsequent activation of NF-kappa-B. Undergoes both 'Lys-48'-linked and 'Lys-63'-linked polyubiquitination. Polyubiquitinated via 'Lys-63'-linked ubiquitin in response to TNF signaling; this requires prior phosphorylation at Thr-117. 'Lys-63'-linked polyubiquitination promotes TRAF2-mediated activation of NF-kappa-B. Can be polyubiquitinated at several Lys residues via 'Lys-48'-linked ubiquitin chains in response to TNF signaling, leading to proteasomal degradation. Autoubiquitinated, leading to its subsequent proteasomal degradation. Polyubiquitinated by BIRC2 and SIAH2, leading to its subsequent proteasomal degradation. Deubiquitinated by CYLD, a protease that specifically cleaves 'Lys-63'-linked polyubiquitin chains. Belongs to the TNF receptor-associated factor family. A subfamily. Contains 1 MATH domain. Contains 1 RING-type zinc finger. Contains 2 TRAF-type zinc fingers. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/traf2/"; ubiquitin ligase complex positive regulation of T cell cytokine production ubiquitin-protein transferase activity tumor necrosis factor receptor binding CD40 receptor binding protein binding nucleoplasm cytoplasm cytosol cell cortex apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process signal transduction I-kappaB kinase/NF-kappaB signaling activation of NF-kappaB-inducing kinase activity zinc ion binding lipid binding cytoplasmic side of plasma membrane regulation of tumor necrosis factor-mediated signaling pathway vesicle membrane protein ubiquitination protein deubiquitination transferase activity enzyme binding protein kinase binding protein phosphatase binding protein catabolic process mitogen-activated protein kinase kinase kinase binding ubiquitin protein ligase binding thioesterase binding positive regulation of interleukin-2 production macromolecular complex tumor necrosis factor-mediated signaling pathway negative regulation of glial cell apoptotic process cellular macromolecular complex assembly response to endoplasmic reticulum stress CD40 receptor complex identical protein binding regulation of apoptotic process positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of JUN kinase activity macromolecular complex binding membrane raft regulation of JNK cascade sphingolipid binding metal ion binding regulation of immunoglobulin secretion positive regulation of sequence-specific DNA binding transcription factor activity positive regulation of NF-kappaB transcription factor activity protein heterooligomerization protein autoubiquitination macromolecular complex assembly intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress protein homotrimerization protein K63-linked ubiquitination death-inducing signaling complex assembly cellular response to nitric oxide positive regulation of protein homodimerization activity TRAF2-GSTP1 complex programmed necrotic cell death negative regulation of neuron death regulation of extrinsic apoptotic signaling pathway via death domain receptors negative regulation of extrinsic apoptotic signaling pathway via death domain receptors positive regulation of tumor necrosis factor-mediated signaling pathway positive regulation of I-kappaB phosphorylation IRE1-TRAF2-ASK1 complex positive regulation of extrinsic apoptotic signaling pathway uc004cjv.1 uc004cjv.2 uc004cjv.3 uc004cjv.4 uc004cjv.5 
ENST00000247706.4 ABHD8 ENST00000247706.4 Homo sapiens abhydrolase domain containing 8 (ABHD8), mRNA. (from RefSeq NM_024527) ABHD8_HUMAN ENST00000247706.1 ENST00000247706.2 ENST00000247706.3 NM_024527 Q96I13 Q9HAE9 uc002ngb.1 uc002ngb.2 uc002ngb.3 uc002ngb.4 uc002ngb.5 This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase domains. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AK021805.1, SRR3476690.934146.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000247706.4/ ENSP00000247706.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Belongs to the AB hydrolase superfamily. catalytic activity hydrolase activity extracellular exosome uc002ngb.1 uc002ngb.2 uc002ngb.3 uc002ngb.4 uc002ngb.5 
ENST00000247815.9 HELB ENST00000247815.9 Homo sapiens DNA helicase B (HELB), transcript variant 2, non-coding RNA. (from RefSeq NR_135080) A8K4C9 ENST00000247815.1 ENST00000247815.2 ENST00000247815.3 ENST00000247815.4 ENST00000247815.5 ENST00000247815.6 ENST00000247815.7 ENST00000247815.8 HELB_HUMAN NR_135080 Q4G0T2 Q8NG08 Q9H7L5 uc058qna.1 uc058qna.2 This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. Unwinds duplex DNA with 5'-3' polarity. Has single- strand DNA-dependent ATPase and DNA helicase activities. Prefers ATP and dATP as substrates. During S phase, may facilitate cellular recovery from replication stress. ATP + H(2)O = ADP + phosphate. Inhibited by salt concentration greater than 100 mM. Uses either magnesium or manganese ions to support helicase activity. Binds strongly to single-stranded DNA in the absence of ATP but dissociates readily in the presence of 1 mM ATP. Binds to RPA1; this interaction promotes HELB recruitment to chromatin following DNA damage. Interacts with at least two subunits of pol-prim. Note=Preferentially during S phase, recruited to chromatin following DNA damage induced by UV irradiation, or camptothecin or hydroxyurea treatment. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8NG08-1; Sequence=Displayed; Name=2; IsoId=Q8NG08-2; Sequence=VSP_034086, VSP_034087; Note=No experimental confirmation available; Highly expressed in testis and thymus and weakly in liver, spleen, kidney and brain. Phosphorylated upon DNA damage, probably by ATM or ATR. Sequence=BAB15754.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; nucleotide binding DNA helicase activity RNA binding helicase activity ATP binding nucleus chromosome cytoplasm DNA replication DNA-dependent DNA replication DNA replication, synthesis of RNA primer DNA repair cellular response to DNA damage stimulus hydrolase activity single-stranded DNA-dependent ATP-dependent DNA helicase activity DNA duplex unwinding site of double-strand break 5'-3' DNA helicase activity macromolecular complex binding regulation of DNA double-strand break processing negative regulation of double-strand break repair via homologous recombination DNA replication factor A complex uc058qna.1 uc058qna.2 
ENST00000247833.12 RAB3IP ENST00000247833.12 Homo sapiens RAB3A interacting protein (RAB3IP), transcript variant alpha 1, mRNA. (from RefSeq NM_022456) B7WPJ6 ENST00000247833.1 ENST00000247833.10 ENST00000247833.11 ENST00000247833.2 ENST00000247833.3 ENST00000247833.4 ENST00000247833.5 ENST00000247833.6 ENST00000247833.7 ENST00000247833.8 ENST00000247833.9 NM_022456 Q6PCE4 Q96A24 Q96QE6 Q96QE7 Q96QE8 Q96QE9 Q96QF0 Q96QF1 Q9H673 RAB3I_HUMAN RABIN8 uc001svm.1 uc001svm.2 uc001svm.3 uc001svm.4 uc001svm.5 uc001svm.6 Guanine nucleotide exchange factor (GEF) which may activate RAB8A and RAB8B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP- bound form. Mediates the release of GDP from RAB8A and RAB8B but not from RAB3A or RAB5. Modulates actin organization and promotes polarized transport of RAB8A-specific vesicles to the cell surface. Together with RAB11A, RAB8A, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and lumenogenesis. Interacts with the N-terminal region of SSX2. Interacts with the GDP-bound forms of RAB3A, RAB3D, RAB8A and RAB8B. Q8NFJ9:BBS1; NbExp=2; IntAct=EBI-747860, EBI-1805484; Q8TBN0:RAB3IL1; NbExp=3; IntAct=EBI-747844, EBI-743796; Q16385:SSX2B; NbExp=4; IntAct=EBI-747865, EBI-2210673; P48553:TRAPPC10; NbExp=6; IntAct=EBI-747844, EBI-6160572; Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, actin patch. Cell projection, lamellipodium. Note=Predominantly cytoplasmic but a small proportion colocalizes with SSX2 in the nucleus. Activation of protein kinase C results in redistribution to the periphery of lamellipodia. Event=Alternative splicing; Named isoforms=8; Name=2; Synonyms=alpha2; IsoId=Q96QF0-1; Sequence=Displayed; Name=1; Synonyms=alpha1; IsoId=Q96QF0-2; Sequence=VSP_051755; Name=3; Synonyms=beta1; IsoId=Q96QF0-3; Sequence=VSP_051755, VSP_051761, VSP_051762; Name=4; Synonyms=beta2; IsoId=Q96QF0-4; Sequence=VSP_051761, VSP_051762; Name=5; Synonyms=gamma1; IsoId=Q96QF0-5; Sequence=VSP_051755, VSP_051757, VSP_051759; Name=6; Synonyms=gamma2; IsoId=Q96QF0-6; Sequence=VSP_051757, VSP_051759; Name=7; IsoId=Q96QF0-7; Sequence=VSP_051755, VSP_051758, VSP_051760; Note=No experimental confirmation available; Name=8; IsoId=Q96QF0-8; Sequence=VSP_051756; Expressed in brain, kidney, heart, pancreas and placenta. Not detected in skeletal muscle or liver. Belongs to the SEC2 family. guanyl-nucleotide exchange factor activity protein binding nucleus cytoplasm centrosome cytosol cytoskeleton protein targeting to membrane Golgi to plasma membrane transport protein transport Rab guanyl-nucleotide exchange factor activity lamellipodium protein localization to organelle ciliary basal body identical protein binding cell projection cilium assembly ciliary basal body docking uc001svm.1 uc001svm.2 uc001svm.3 uc001svm.4 uc001svm.5 uc001svm.6 
ENST00000247843.7 YEATS4 ENST00000247843.7 Homo sapiens YEATS domain containing 4 (YEATS4), transcript variant 1, mRNA. (from RefSeq NM_006530) ENST00000247843.1 ENST00000247843.2 ENST00000247843.3 ENST00000247843.4 ENST00000247843.5 ENST00000247843.6 GAS41 NM_006530 O95619 Q9NQD0 YETS4_HUMAN uc001sux.1 uc001sux.2 uc001sux.3 uc001sux.4 uc001sux.5 The protein encoded by this gene is found in the nucleoli. It has high sequence homology to human MLLT1, and yeast and human MLLT3 proteins. Both MLLT1 and MLLT3 proteins belong to a class of transcription factors, indicating that the encoded protein might also represent a transcription factor. This protein is thought to be required for RNA transcription. This gene has been shown to be amplified in tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]. Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Component of numerous complexes with chromatin remodeling and histone acetyltransferase activity. Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5/TIP60 and the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41, VPS72/YL1 and MEAF6. The NuA4 complex interacts with MYC and the adenovirus E1A protein. Component of a NuA4-related complex which contains EP400, TRRAP/PAF400, SRCAP, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, actin, ACTL6A/BAF53A, VPS72 and YEATS4/GAS41. YEATS4 interacts with MLLT10/AF10. YEATS4 may also interact with the SWI/SNF component SMARCB1/BAF47, TACC1 and TACC2, and the nuclear matrix protein NUMA1. O75410:TACC1; NbExp=6; IntAct=EBI-399269, EBI-624237; Nucleus. Expressed in brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle. Contains 1 YEATS domain. Sequence=CAC01935.1; Type=Erroneous initiation; mitotic cell cycle DNA binding transcription factor activity, sequence-specific DNA binding structural constituent of cytoskeleton protein binding nucleus nucleoplasm chromatin organization regulation of transcription, DNA-templated cytoskeleton organization protein C-terminus binding nuclear matrix nuclear membrane NuA4 histone acetyltransferase complex regulation of growth histone H4 acetylation histone H2A acetylation positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter uc001sux.1 uc001sux.2 uc001sux.3 uc001sux.4 uc001sux.5 
ENST00000247879.2 TAS2R3 ENST00000247879.2 Homo sapiens taste 2 receptor member 3 (TAS2R3), mRNA. (from RefSeq NM_016943) A4D1U2 ENST00000247879.1 NM_016943 Q645W2 Q75MV6 Q9NYW6 TA2R3_HUMAN uc003vwp.1 This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. These apparently intronless taste receptor genes encode a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC095523.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000247879.2/ ENSP00000247879.2 RefSeq Select criteria :: based on single protein-coding transcript regulatory uORF :: PMID: 19372376 ##RefSeq-Attributes-END## Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. Membrane; Multi-pass membrane protein. Expressed in subsets of taste receptor cells of the tongue and palate epithelium and exclusively in gustducin- positive cells. Expressed in the antrum and fundus (part of the stomach), duodenum and in gastric endocrine cells. Several bitter taste receptors are expressed in a single taste receptor cell. Belongs to the G-protein coupled receptor T2R family. Sequence=AAU21157.1; Type=Erroneous initiation; detection of chemical stimulus involved in sensory perception of bitter taste G-protein coupled receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway taste receptor activity membrane integral component of membrane bitter taste receptor activity response to stimulus sensory perception of taste uc003vwp.1 
ENST00000247881.4 TAS2R4 ENST00000247881.4 Homo sapiens taste 2 receptor member 4 (TAS2R4), mRNA. (from RefSeq NM_016944) ENST00000247881.1 ENST00000247881.2 ENST00000247881.3 NM_016944 Q645W5 Q75MV8 Q9NYW5 TA2R4_HUMAN uc003vwq.1 uc003vwq.2 uc003vwq.3 This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. These apparently intronless genes encode a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: SRR1803615.226850.1, SRR1660805.122680.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000247881.4/ ENSP00000247881.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Gustducin-coupled receptor for denatonium and N(6)- propyl-2-thiouracil implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. In airway epithelial cells, binding of denatonium increases the intracellular calcium ion concentration and stimulates ciliary beat frequency. Membrane; Multi-pass membrane protein. Cell projection, cilium membrane. Note=In airway epithelial cells, localizes to motile cilia. Expressed in subsets of taste receptor cells of the tongue and palate epithelium and exclusively in gustducin- positive cells. Expressed on airway ciliated epithelium. Several bitter taste receptors are expressed in a single taste receptor cell. Belongs to the G-protein coupled receptor T2R family. Name=Protein Spotlight; Note=A tail of protection - Issue 119 of July 2010; URL="http://web.expasy.org/spotlight/back_issues/sptlt119.shtml"; detection of chemical stimulus involved in sensory perception of bitter taste G-protein coupled receptor activity plasma membrane cilium signal transduction G-protein coupled receptor signaling pathway respiratory gaseous exchange taste receptor activity membrane integral component of membrane bitter taste receptor activity cell projection response to stimulus sensory perception of taste ciliary membrane uc003vwq.1 uc003vwq.2 uc003vwq.3 
ENST00000247883.5 TAS2R5 ENST00000247883.5 Homo sapiens taste 2 receptor member 5 (TAS2R5), mRNA. (from RefSeq NM_018980) ENST00000247883.1 ENST00000247883.2 ENST00000247883.3 ENST00000247883.4 NM_018980 Q645W0 Q75MV7 Q9NYW4 TA2R5_HUMAN uc003vwr.1 uc003vwr.2 This gene encodes a bitter taste receptor; bitter taste receptors are members of the G protein-coupled receptor superfamily and are specifically expressed by taste receptor cells of the tongue and palate epithelia. Each of these apparently intronless taste receptor genes encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes on chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC095522.1, SRR1660803.244645.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000247883.5/ ENSP00000247883.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5. Membrane; Multi-pass membrane protein. Expressed in subsets of taste receptor cells of the tongue and palate epithelium and exclusively in gustducin- positive cells. Most taste cells may be activated by a limited number of bitter compounds; individual taste cells can discriminate among bitter stimuli. Belongs to the G-protein coupled receptor T2R family. detection of chemical stimulus involved in sensory perception of bitter taste G-protein coupled receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway chemosensory behavior taste receptor activity membrane integral component of membrane bitter taste receptor activity response to stimulus sensory perception of taste uc003vwr.1 uc003vwr.2 
ENST00000247930.5 ZNF777 ENST00000247930.5 Homo sapiens zinc finger protein 777 (ZNF777), mRNA. (from RefSeq NM_015694) ENST00000247930.1 ENST00000247930.2 ENST00000247930.3 ENST00000247930.4 KIAA1285 NM_015694 Q8N2R2 Q8N659 Q9ULD5 ZN777_HUMAN uc003wfv.1 uc003wfv.2 uc003wfv.3 uc003wfv.4 uc003wfv.5 May be involved in transcriptional regulation. Nucleus (Probable). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9ULD5-1; Sequence=Displayed; Name=2; IsoId=Q9ULD5-2; Sequence=VSP_026559; Note=No experimental confirmation available; Name=3; IsoId=Q9ULD5-3; Sequence=VSP_026558, VSP_026559; Note=No experimental confirmation available; Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 6 C2H2-type zinc fingers. Contains 1 KRAB domain. Sequence=AAH23985.2; Type=Erroneous initiation; Sequence=BAA86599.1; Type=Erroneous initiation; Sequence=BAC11033.1; Type=Erroneous initiation; molecular_function nucleic acid binding DNA binding cellular_component nucleus regulation of transcription, DNA-templated biological_process metal ion binding uc003wfv.1 uc003wfv.2 uc003wfv.3 uc003wfv.4 uc003wfv.5 
ENST00000247933.9 IDUA ENST00000247933.9 Homo sapiens alpha-L-iduronidase (IDUA), transcript variant 2, non-coding RNA. (from RefSeq NR_110313) ENST00000247933.1 ENST00000247933.2 ENST00000247933.3 ENST00000247933.4 ENST00000247933.5 ENST00000247933.6 ENST00000247933.7 ENST00000247933.8 IDUA_HUMAN NR_110313 P35475 uc003gby.1 uc003gby.2 uc003gby.3 uc003gby.4 uc003gby.5 uc003gby.6 This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008]. Hydrolysis of unsulfated alpha-L-iduronosidic linkages in dermatan sulfate. Monomer (Probable). Lysosome. Ubiquitous. Defects in IDUA are the cause of mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]; also known as Hurler syndrome. MPS1H is a severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe mental retardation. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. Defects in IDUA are the cause of mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]; also known as Hurler-Scheie syndrome. MPS1H/S is a form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. Defects in IDUA are the cause of mucopolysaccharidosis type 1S (MPS1S) [MIM:607016]; also known as Scheie syndrome. MPS1S is a mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding. Belongs to the glycosyl hydrolase 39 family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IDUA"; L-iduronidase activity hydrolase activity, hydrolyzing O-glycosyl compounds receptor binding lysosome carbohydrate metabolic process disaccharide metabolic process glycosaminoglycan catabolic process metabolic process hydrolase activity hydrolase activity, acting on glycosyl bonds coated vesicle chondroitin sulfate catabolic process dermatan sulfate catabolic process heparin catabolic process lysosomal lumen extracellular exosome uc003gby.1 uc003gby.2 uc003gby.3 uc003gby.4 uc003gby.5 uc003gby.6 
ENST00000247956.11 ZNF317 ENST00000247956.11 Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA. (from RefSeq NM_020933) ENST00000247956.1 ENST00000247956.10 ENST00000247956.2 ENST00000247956.3 ENST00000247956.4 ENST00000247956.5 ENST00000247956.6 ENST00000247956.7 ENST00000247956.8 ENST00000247956.9 KIAA1588 NM_020933 Q6DCA9 Q96PM0 Q96PM1 Q96PQ6 Q96PT2 Q9HCI4 ZN317_HUMAN uc002mku.1 uc002mku.2 uc002mku.3 uc002mku.4 uc002mku.5 May function as a transcription factor. May play an important role in erythroid maturation and lymphoid proliferation. Nucleus (Probable). Event=Alternative splicing; Named isoforms=4; Name=2; Synonyms=ZNF317-2; IsoId=Q96PQ6-1; Sequence=Displayed; Name=1; Synonyms=ZNF317-1; IsoId=Q96PQ6-2; Sequence=VSP_006916; Name=3; Synonyms=ZNF317-3; IsoId=Q96PQ6-3; Sequence=VSP_006915, VSP_006916; Name=4; Synonyms=ZNF317-4; IsoId=Q96PQ6-4; Sequence=VSP_006915; Isoform 1 and isoform 2 are ubiquitously expressed. Isoform 3 and isoform 4 are expressed only in lymphocytes, spleen and lung. Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 13 C2H2-type zinc fingers. Contains 1 KRAB domain. Sequence=BAB13414.1; Type=Erroneous initiation; nucleic acid binding DNA binding protein binding nucleus regulation of transcription, DNA-templated metal ion binding uc002mku.1 uc002mku.2 uc002mku.3 uc002mku.4 uc002mku.5 
ENST00000247970.9 PIN1 ENST00000247970.9 Homo sapiens peptidylprolyl cis/trans isomerase, NIMA-interacting 1 (PIN1), transcript variant 1, mRNA. (from RefSeq NM_006221) A8K4V9 ENST00000247970.1 ENST00000247970.2 ENST00000247970.3 ENST00000247970.4 ENST00000247970.5 ENST00000247970.6 ENST00000247970.7 ENST00000247970.8 NM_006221 PIN1_HUMAN Q13526 Q53X75 uc002mml.1 uc002mml.2 uc002mml.3 uc002mml.4 Peptidyl-prolyl cis/trans isomerases (PPIases) catalyze the cis/trans isomerization of peptidyl-prolyl peptide bonds. This gene encodes one of the PPIases, which specifically binds to phosphorylated ser/thr-pro motifs to catalytically regulate the post-phosphorylation conformation of its substrates. The conformational regulation catalyzed by this PPIase has a profound impact on key proteins involved in the regulation of cell growth, genotoxic and other stress responses, the immune response, induction and maintenance of pluripotency, germ cell development, neuronal differentiation, and survival. This enzyme also plays a key role in the pathogenesis of Alzheimer's disease and many cancers. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]. Essential PPIase that regulates mitosis presumably by interacting with NIMA and attenuating its mitosis-promoting activity. Displays a preference for an acidic residue N-terminal to the isomerized proline bond. Catalyzes pSer/Thr-Pro cis/trans isomerizations. Down-regulates kinase activity of BTK. Can transactivate multiple oncogenes and induce centrosome amplification, chromosome instability and cell transformation. Required for the efficient dephosphorylation and recycling of RAF1 after mitogen activation. Peptidylproline (omega=180) = peptidylproline (omega=0). Interacts with STIL (By similarity). Interacts with KIF20B. Interacts with NEK6. Interacts (via WW domain) with PRKX. Interacts with BTK. Interacts (via PpiC domain) with DAPK1. Interacts with the phosphorylated form of RAF1. Interacts (via WW domain) with ATCAY; upon NGF stimulation. P05067-4:APP; NbExp=2; IntAct=EBI-714158, EBI-302641; Q15131:CDK10; NbExp=5; IntAct=EBI-714158, EBI-1646959; P51617:IRAK1; NbExp=10; IntAct=EBI-714158, EBI-358664; Q9HC98:NEK6; NbExp=3; IntAct=EBI-714158, EBI-740364; P46531:NOTCH1; NbExp=9; IntAct=EBI-714158, EBI-636374; P04637:TP53; NbExp=11; IntAct=EBI-714158, EBI-366083; Nucleus. Nucleus speckle. Cytoplasm. Note=Co-localizes with NEK6 in the nucleus. Mainly localized in the nucleus but phosphorylation at Ser-71 by DAPK1 results in inhibition of its nuclear localization. The phosphorylated form at Ser-71 is expressed in normal breast tissue cells but not in breast cancer cells. The WW domain is required for the interaction with STIL and KIF20B. Phosphorylated upon DNA damage, probably by ATM or ATR. Phosphorylation at Ser-71 by DAPK1 results in inhibition of its catalytic activity, nuclear localization, and its ability to induce centrosome amplification, chromosome instability and cell transformation. Contains 1 PpiC domain. Contains 1 WW domain. protein peptidyl-prolyl isomerization response to hypoxia regulation of protein phosphorylation positive regulation of protein phosphorylation peptidyl-prolyl cis-trans isomerase activity motor activity protein binding nucleus nucleoplasm cytoplasm mitochondrion cytosol cell cycle regulation of mitotic nuclear division beta-catenin binding regulation of gene expression nuclear speck isomerase activity cis-trans isomerase activity neuron differentiation midbody negative regulation of transforming growth factor beta receptor signaling pathway mitogen-activated protein kinase kinase binding regulation of protein stability negative regulation of protein binding positive regulation of protein binding regulation of cytokinesis negative regulation of type I interferon production GTPase activating protein binding positive regulation of protein dephosphorylation negative regulation of protein catabolic process neuron projection negative regulation of neuron apoptotic process positive regulation of neuron apoptotic process positive regulation of GTPase activity positive regulation of transcription from RNA polymerase II promoter tau protein binding synapse organization phosphoserine binding phosphothreonine binding protein stabilization phosphoprotein binding positive regulation of ubiquitin-protein transferase activity regulation of pathway-restricted SMAD protein phosphorylation positive regulation of cell growth involved in cardiac muscle cell development negative regulation of ERK1 and ERK2 cascade positive regulation of canonical Wnt signaling pathway glutamatergic synapse postsynaptic cytosol regulation of protein localization to nucleus regulation of signal transduction by p53 class mediator negative regulation of beta-amyloid formation negative regulation of cell motility microtubule polymerization uc002mml.1 uc002mml.2 uc002mml.3 uc002mml.4 
ENST00000247977.9 FBXL12 ENST00000247977.9 Homo sapiens F-box and leucine rich repeat protein 12 (FBXL12), transcript variant 1, mRNA. (from RefSeq NM_017703) B3KSJ8 ENST00000247977.1 ENST00000247977.2 ENST00000247977.3 ENST00000247977.4 ENST00000247977.5 ENST00000247977.6 ENST00000247977.7 ENST00000247977.8 FBL12 FXL12_HUMAN NM_017703 Q9H5K4 Q9NXK8 uc002mme.1 uc002mme.2 uc002mme.3 uc002mme.4 Members of the F-box protein family, such as FBXL12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]. Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex (By similarity). Interacts with SKP1 and CUL1 (By similarity). Q9H0A6:RNF32; NbExp=2; IntAct=EBI-719790, EBI-724829; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NXK8-1; Sequence=Displayed; Name=2; IsoId=Q9NXK8-2; Sequence=VSP_008859; Contains 1 F-box domain. Contains 8 LRR (leucine-rich) repeats. G2/M transition of mitotic cell cycle ubiquitin ligase complex protein polyubiquitination protein binding nucleus cytoplasm cytosol ubiquitin-dependent protein catabolic process protein ubiquitination SCF ubiquitin ligase complex SCF-dependent proteasomal ubiquitin-dependent protein catabolic process post-translational protein modification regulation of cell cycle ubiquitin protein ligase activity uc002mme.1 uc002mme.2 uc002mme.3 uc002mme.4 
ENST00000247986.2 KIF17 ENST00000247986.2 Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA. (from RefSeq NM_020816) A2A3Q7 A2A3Q8 ENST00000247986.1 KIAA1405 KIF17_HUMAN KIF3X NM_020816 O95077 Q53YS6 Q5VWA9 Q6GSA8 Q8N411 Q9P2E2 uc001bdr.1 uc001bdr.2 uc001bdr.3 uc001bdr.4 uc001bdr.5 uc001bdr.6 Transports vesicles containing N-methyl-D-aspartate (NMDA) receptor 2B along microtubules (By similarity). Interacts with LIN-10 PDZ domain. Interacts with PIWIL1 (By similarity). Interacts with TBATA (By similarity). Cytoplasm, cytoskeleton (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=KIF17b; IsoId=Q9P2E2-1; Sequence=Displayed; Name=2; IsoId=Q9P2E2-3; Sequence=VSP_040346; Belongs to the kinesin-like protein family. Contains 1 kinesin-motor domain. Sequence=AAD01428.1; Type=Frameshift; Positions=970, 990; Sequence=AAD01428.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part; Sequence=AAH36871.1; Type=Miscellaneous discrepancy; Note=Cloning artifact; Sequence=BAA92643.2; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part; Sequence=CAH73471.1; Type=Erroneous gene model prediction; Sequence=CAI23390.1; Type=Erroneous gene model prediction; nucleotide binding microtubule motor activity ATP binding cytoplasm cytosol cytoskeleton kinesin complex microtubule cilium axoneme microtubule-based process microtubule-based movement microtubule binding ATP-dependent microtubule motor activity, plus-end-directed protein transport microtubule cytoskeleton vesicle-mediated transport ATPase activity cell projection organization intraciliary transport particle B protein complex localization photoreceptor connecting cilium dendrite cytoplasm intraciliary transport involved in cilium assembly ciliary basal body cell projection neuron projection anterograde dendritic transport of neurotransmitter receptor complex periciliary membrane compartment uc001bdr.1 uc001bdr.2 uc001bdr.3 uc001bdr.4 uc001bdr.5 uc001bdr.6 
ENST00000248041.12 CYP4F11 ENST00000248041.12 Homo sapiens cytochrome P450 family 4 subfamily F member 11 (CYP4F11), transcript variant 2, mRNA. (from RefSeq NM_001128932) CP4FB_HUMAN ENST00000248041.1 ENST00000248041.10 ENST00000248041.11 ENST00000248041.2 ENST00000248041.3 ENST00000248041.4 ENST00000248041.5 ENST00000248041.6 ENST00000248041.7 ENST00000248041.8 ENST00000248041.9 NM_001128932 O75254 Q96AQ5 Q9HBI6 uc002nbu.1 uc002nbu.2 uc002nbu.3 This gene, CYP4F11, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. RH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + H(2)O. Heme group (By similarity). Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity). Microsome membrane; Single-pass membrane protein (By similarity). Expressed mainly in human liver, followed by kidney, heart, and skeletal muscle. Belongs to the cytochrome P450 family. Sequence=AAC27731.1; Type=Erroneous gene model prediction; monooxygenase activity fatty acid binding iron ion binding endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process fatty acid metabolic process inflammatory response blood coagulation membrane integral component of membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen arachidonic acid metabolic process heme binding organelle membrane oxylipin biosynthetic process menaquinone catabolic process phylloquinone catabolic process vitamin K catabolic process intracellular membrane-bounded organelle metal ion binding oxidation-reduction process aromatase activity uc002nbu.1 uc002nbu.2 uc002nbu.3 
ENST00000248054.10 SIN3B ENST00000248054.10 Homo sapiens SIN3 transcription regulator family member B (SIN3B), transcript variant 2, mRNA. (from RefSeq NM_001297595) ENST00000248054.1 ENST00000248054.2 ENST00000248054.3 ENST00000248054.4 ENST00000248054.5 ENST00000248054.6 ENST00000248054.7 ENST00000248054.8 ENST00000248054.9 KIAA0700 NM_001297595 O75182 Q2NL91 Q68GC2 Q6P4B8 Q8TB34 Q9BSC8 SIN3B_HUMAN uc002nez.1 uc002nez.2 uc002nez.3 uc002nez.4 Acts as a transcriptional repressor. Interacts with MXI1 to repress MYC responsive genes and antagonize MYC oncogenic activities. Interacts with MAD-MAX heterodimers by binding to MAD. The heterodimer then represses transcription by tethering SIN3B to DNA. Also forms a complex with FOXK1 which represses transcription (By similarity). Interacts with FOXK1/MNF, MXI, MAD, NCOR1 and SAP30. Interaction with SDS3 enhances the interaction with HDAC1 to form a complex. Interacts with MAD3, MAD4, MAEL, REST and SETDB1 (By similarity). Interacts with RNF220 (By similarity). Interacts with HCFC1. Nucleus (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=Long; IsoId=O75182-1; Sequence=Displayed; Note=No experimental confirmation available; Name=2; IsoId=O75182-2; Sequence=VSP_014186; Note=No experimental confirmation available; Name=3; IsoId=O75182-3; Sequence=VSP_014185; Note=No experimental confirmation available; Ubiquitinated by RNF220 that leads to proteasomal degradation (By similarity). Contains 3 PAH (paired amphipathic helix) domains. Sequence=BAA31675.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; negative regulation of transcription from RNA polymerase II promoter chromatin X chromosome Y chromosome XY body chromatin binding transcription corepressor activity protein binding nucleus nucleoplasm cytoplasm regulation of transcription, DNA-templated histone deacetylation Sin3 complex regulation of lipid metabolic process autosome negative regulation of transcription, DNA-templated histone deacetylase activity uc002nez.1 uc002nez.2 uc002nez.3 uc002nez.4 
ENST00000248071.6 KLF2 ENST00000248071.6 Homo sapiens Kruppel like factor 2 (KLF2), mRNA. (from RefSeq NM_016270) ENST00000248071.1 ENST00000248071.2 ENST00000248071.3 ENST00000248071.4 ENST00000248071.5 KLF2_HUMAN LKLF NM_016270 Q6IPC4 Q9UJS5 Q9UKR6 Q9Y5W3 uc002ndw.1 uc002ndw.2 uc002ndw.3 uc002ndw.4 uc002ndw.5 This gene encodes a protein that belongs to the Kruppel family of transcription factors. The encoded zinc finger protein is expressed early in mammalian development and is found in many different cell types. The protein acts to bind the CACCC box found in the promoter of target genes to activate their transcription. It plays a role in many processes during development and disease including adipogenesis, embryonic erythropoiesis, epithelial integrity, inflammation and t-cell viability. [provided by RefSeq, Mar 2017]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK225820.1, BC071983.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248071.6/ ENSP00000248071.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds to the CACCC box in the beta-globin gene promoter and activates transcription (By similarity). Interacts with WWP1. Nucleus (By similarity). Ubiquitinated. Polyubiquitination involves WWP1 and leads to proteasomal degradation of this protein (By similarity). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 3 C2H2-type zinc fingers. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/klf2/"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin cell morphogenesis RNA polymerase II transcription factor activity, sequence-specific DNA binding in utero embryonic development nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription from RNA polymerase II promoter negative regulation of interleukin-6 production erythrocyte homeostasis response to laminar fluid shear stress multicellular organism growth positive regulation of transcription from RNA polymerase II promoter in response to stress regulation of gene expression, epigenetic erythrocyte maturation positive regulation of nitric oxide biosynthetic process positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding positive regulation of protein metabolic process Type I pneumocyte differentiation cellular response to hydrogen peroxide cellular response to interleukin-1 cellular response to tumor necrosis factor cellular response to organic cyclic compound cellular response to cycloheximide cellular response to fluid shear stress cellular response to laminar fluid shear stress cellular stress response to acid chemical cellular response to peptide negative regulation of sprouting angiogenesis uc002ndw.1 uc002ndw.2 uc002ndw.3 uc002ndw.4 uc002ndw.5 
ENST00000248072.3 OR7C2 ENST00000248072.3 Homo sapiens olfactory receptor family 7 subfamily C member 2 (OR7C2), mRNA. (from RefSeq NM_012377) ENST00000248072.1 ENST00000248072.2 NM_012377 O43881 O60412 OR7C2_HUMAN OR7C3 Q6IFP9 uc010xoc.1 uc010xoc.2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: BC110063.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248072.3/ ENSP00000248072.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Odorant receptor (Potential). Cell membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor 1 family. Sequence=DAA04611.1; Type=Erroneous initiation; Name=Human Olfactory Receptor Data Exploratorium (HORDE); URL="http://bip.weizmann.ac.il/cgi-bin/HORDE/showGene.pl?key=symbol&value=OR7C2"; G-protein coupled receptor activity olfactory receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway sensory perception of smell membrane integral component of membrane response to stimulus detection of chemical stimulus involved in sensory perception of smell uc010xoc.1 uc010xoc.2 
ENST00000248076.4 F2RL3 ENST00000248076.4 Homo sapiens F2R like thrombin or trypsin receptor 3 (F2RL3), mRNA. (from RefSeq NM_003950) ENST00000248076.1 ENST00000248076.2 ENST00000248076.3 NM_003950 O76067 PAR4 PAR4_HUMAN Q6DK42 Q96RI0 uc002nfa.1 uc002nfa.2 uc002nfa.3 uc002nfa.4 uc002nfa.5 This gene encodes a member of the protease-activated receptor subfamily, part of the G-protein coupled receptor 1 family of proteins. The encoded receptor is proteolytically processed to reveal an extracellular N-terminal tethered ligand that binds to and activates the receptor. This receptor plays a role in blood coagulation, inflammation and response to pain. Hypomethylation at this gene may be associated with lung cancer in human patients. [provided by RefSeq, Sep 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DRR138516.858413.1, AF080214.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248076.4/ ENSP00000248076.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Receptor for activated thrombin or trypsin coupled to G proteins that stimulate phosphoinositide hydrolysis. May play a role in platelets activation. Cell membrane; Multi-pass membrane protein. Widely expressed, with highest levels in lung, pancreas, thyroid, testis and small intestine. Not expressed in brain, kidney, spinal cord and peripheral blood leukocytes. Also detected in platelets. A proteolytic cleavage generates a new N-terminus that functions as a tethered ligand. Belongs to the G-protein coupled receptor 1 family. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/f2rl3/"; G-protein coupled receptor activity extracellular region plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway phospholipase C-activating G-protein coupled receptor signaling pathway blood coagulation hemostasis response to wounding thrombin-activated receptor activity membrane integral component of membrane platelet activation positive regulation of Rho protein signal transduction positive regulation of release of sequestered calcium ion into cytosol positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway platelet dense granule organization thrombin-activated receptor signaling pathway uc002nfa.1 uc002nfa.2 uc002nfa.3 uc002nfa.4 uc002nfa.5 
ENST00000248098.8 JPT2 ENST00000248098.8 Homo sapiens Jupiter microtubule associated homolog 2 (JPT2), mRNA. (from RefSeq NM_144570) B1AJY2 C16orf34 ENST00000248098.1 ENST00000248098.2 ENST00000248098.3 ENST00000248098.4 ENST00000248098.5 ENST00000248098.6 ENST00000248098.7 HN1L HN1L_HUMAN L11 NM_144570 Q6EIC7 Q9H910 uc002cmg.1 uc002cmg.2 uc002cmg.3 uc002cmg.4 uc002cmg.5 Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=HN1LA; IsoId=Q9H910-1; Sequence=Displayed; Name=2; Synonyms=HN1LB, HN1LC; IsoId=Q9H910-2; Sequence=VSP_014706; Expressed in liver, kidney, prostate, testis and uterus. Up-regulated in squamous cell carcinoma (SCC) adenocarcinoma (AC), adenosquamous cell carcinoma (ASCC), bronchioalveolar carcinoma (BAC), breast and uterus tumors. Belongs to the HN1 family. nucleus cytoplasm cytosol plasma membrane uc002cmg.1 uc002cmg.2 uc002cmg.3 uc002cmg.4 uc002cmg.5 
ENST00000248114.7 GFER ENST00000248114.7 Homo sapiens growth factor, augmenter of liver regeneration (GFER), mRNA. (from RefSeq NM_005262) ALR ALR_HUMAN ENST00000248114.1 ENST00000248114.2 ENST00000248114.3 ENST00000248114.4 ENST00000248114.5 ENST00000248114.6 HERV1 HPO NM_005262 P55789 Q53YM6 Q8TAH6 Q9H290 Q9UK40 uc002cob.1 uc002cob.2 uc002cob.3 uc002cob.4 uc002cob.5 The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (HSS). The gene resides on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1). The putative gene product is 42% similar to the scERV1 protein of yeast. The yeast scERV1 gene had been found to be essential for oxidative phosphorylation, the maintenance of mitochondrial genomes, and the cell division cycle. The human gene is both the structural and functional homolog of the yeast scERV1 gene. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC002429.1, SRR3476690.738756.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248114.7/ ENSP00000248114.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Isoform 1: FAD-dependent sulfhydryl oxidase. Within the mitochondrial intermembrane space, participates in a chain of disulfide exchange reactions with MIA40, that generate disulfide bonds in a number of resident proteins with twin Cx3C and Cx9C motifs. Isoform 2: May act as an autocrine hepatotrophic growth factor promoting liver regeneration. 2 R'C(R)SH + O(2) = R'C(R)S-S(R)CR' + H(2)O(2). FAD. Homodimer; disulfide-linked. May form heterodimers of isoform 1 and isoform 2. Isoform 1: Mitochondrion intermembrane space. Isoform 2: Cytoplasm. Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=HPO-205, lfALR; IsoId=P55789-1; Sequence=Displayed; Name=2; Synonyms=HPO-125, sfALR; IsoId=P55789-2; Sequence=VSP_040393; Ubiquitously expressed. Highest expression in the testis and liver and low expression in the muscle. Defects in GFER are a cause of mitochondrial progressive myopathy with congenital cataract hearing loss and developmental delay (MPMCHD) [MIM:613076]; also called combined mitochondrial complex deficiency. Contains 1 ERV/ALR sulfhydryl oxidase domain. Sequence=AAA96390.2; Type=Frameshift; Positions=70; Sequence=AAD36986.1; Type=Erroneous initiation; Sequence=AAD56538.1; Type=Erroneous initiation; Sequence=AAH02429.1; Type=Erroneous initiation; Sequence=AAH28348.2; Type=Erroneous initiation; protein binding extracellular region cytoplasm mitochondrion mitochondrial intermembrane space cytosol signal transduction growth factor activity protein disulfide oxidoreductase activity oxidoreductase activity flavin-linked sulfhydryl oxidase activity thiol oxidase activity flavin adenine dinucleotide binding oxidation-reduction process uc002cob.1 uc002cob.2 uc002cob.3 uc002cob.4 uc002cob.5 
ENST00000248121.7 SYNGR3 ENST00000248121.7 Homo sapiens synaptogyrin 3 (SYNGR3), mRNA. (from RefSeq NM_004209) B2R9S0 ENST00000248121.1 ENST00000248121.2 ENST00000248121.3 ENST00000248121.4 ENST00000248121.5 ENST00000248121.6 NM_004209 O43761 SNG3_HUMAN uc002cod.1 uc002cod.2 uc002cod.3 uc002cod.4 This gene encodes an integral membrane protein. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it is a synaptic vesicle protein that also interacts with the dopamine transporter. The gene product belongs to the synaptogyrin gene family. [provided by RefSeq, Dec 2010]. ##Evidence-Data-START## Transcript exon combination :: BC014087.2, SRR1803611.203285.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248121.7/ ENSP00000248121.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in the positive regulation of dopamine transporter activity. Probably facilitates the physical and functional interactions of the transporter with the dopamine vesicular storage system, allowing a more efficient loading of the vesicles with extracellular dopamine after release (By similarity). Interacts (via N-terminus) with SLC6A3 (via N-terminus) (By similarity). Membrane; Multi-pass membrane protein. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle (By similarity). Cell junction, synapse. Note=Found at the neuromuscular synapses (By similarity). Expressed in brain and placenta. Belongs to the synaptogyrin family. Contains 1 MARVEL domain. neurotransmitter uptake synaptic vesicle membrane integral component of membrane substantia nigra development cell junction synaptic vesicle membrane cytoplasmic vesicle neuromuscular junction positive regulation of transporter activity SH2 domain binding regulated exocytosis synapse protein N-terminus binding uc002cod.1 uc002cod.2 uc002cod.3 uc002cod.4 
ENST00000248150.5 GNG13 ENST00000248150.5 Homo sapiens G protein subunit gamma 13 (GNG13), mRNA. (from RefSeq NM_016541) B2R5C8 ENST00000248150.1 ENST00000248150.2 ENST00000248150.3 ENST00000248150.4 GBG13_HUMAN NM_016541 Q52LX0 Q9P2W3 Q9UJJ3 uc002ckh.1 uc002ckh.2 uc002ckh.3 uc002ckh.4 uc002ckh.5 Heterotrimeric G proteins, which consist of alpha (see MIM 139320), beta (see MIM 139380), and gamma subunits, function as signal transducers for the 7-transmembrane-helix G protein-coupled receptors. GNG13 is a gamma subunit that is expressed in taste, retinal, and neuronal tissues and plays a key role in taste transduction (Li et al., 2006 [PubMed 16473877]).[supplied by OMIM, Oct 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB030207.1, SRR3476690.1027708.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142348, SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248150.5/ ENSP00000248150.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction. G proteins are composed of 3 units, alpha, beta and gamma. Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Belongs to the G protein gamma family. GTPase activity heterotrimeric G-protein complex plasma membrane signal transduction G-protein coupled receptor signaling pathway phospholipase C-activating G-protein coupled receptor signaling pathway membrane dendrite G-protein beta-subunit binding sensory perception of taste uc002ckh.1 uc002ckh.2 uc002ckh.3 uc002ckh.4 uc002ckh.5 
ENST00000248211.11 ZNF10 ENST00000248211.11 Homo sapiens zinc finger protein 10 (ZNF10), mRNA. (from RefSeq NM_015394) B2RBS1 ENST00000248211.1 ENST00000248211.10 ENST00000248211.2 ENST00000248211.3 ENST00000248211.4 ENST00000248211.5 ENST00000248211.6 ENST00000248211.7 ENST00000248211.8 ENST00000248211.9 KOX1 NM_015394 P21506 Q8TC91 ZNF10_HUMAN uc001ulq.1 uc001ulq.2 uc001ulq.3 uc001ulq.4 uc001ulq.5 The protein encoded by this gene contains a C2H2 zinc finger, and has been shown to function as a transcriptional repressor. The Kruppel-associated box (KRAB) domain of this protein is found to be responsible for its transcriptional repression activity. RING finger containing protein TIF1 was reported to interact with the KRAB domain, and may serve as a mediator for the repression activity of this protein. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC024182.2, SRR1660805.254984.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248211.11/ ENSP00000248211.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May be involved in transcriptional regulation. Nucleus (Probable). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 11 C2H2-type zinc fingers. Contains 1 KRAB domain. nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated sequence-specific DNA binding metal ion binding uc001ulq.1 uc001ulq.2 uc001ulq.3 uc001ulq.4 uc001ulq.5 
ENST00000248244.6 TICAM1 ENST00000248244.6 Homo sapiens toll like receptor adaptor molecule 1 (TICAM1), transcript variant 1, mRNA. (from RefSeq NM_182919) B3Y691 ENST00000248244.1 ENST00000248244.2 ENST00000248244.3 ENST00000248244.4 ENST00000248244.5 NM_182919 O75532 PRVTIRB Q86XP8 Q8IUC6 Q96GA0 TCAM1_HUMAN TRIF uc002mbi.1 uc002mbi.2 uc002mbi.3 uc002mbi.4 uc002mbi.5 uc002mbi.6 This gene encodes an adaptor protein containing a Toll/interleukin-1 receptor (TIR) homology domain, which is an intracellular signaling domain that mediates protein-protein interactions between the Toll-like receptors (TLRs) and signal-transduction components. This protein is involved in native immunity against invading pathogens. It specifically interacts with toll-like receptor 3, but not with other TLRs, and this association mediates dsRNA induction of interferon-beta through activation of nuclear factor kappa-B, during an antiviral immune response. Mutations in this gene are associated with encephalopathy, acute, infection-induced. [provided by RefSeq, Jul 2020]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC035331.1, DRR138522.147854.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in innate immunity against invading pathogens. Adapter used by TLR3 and TLR4 (through TICAM2) to mediate NF- kappa-B and interferon-regulatory factor (IRF) activation, and to induce apoptosis. Ligand binding to these receptors results in TRIF recruitment through its TIR domain. Distinct protein- interaction motifs allow recruitment of the effector proteins TBK1, TRAF6 and RIPK1, which in turn, lead to the activation of transcription factors IRF3 and IRF7, NF-kappa-B and FADD respectively. Homodimer (Probable). Interacts with the TIR domain of TLR3. Interacts with AZI2, TBK1, IRF3 and IRF7. Interacts with TICAM2 in TLR4 recruitment. Interaction with PIAS4 inhibits the TICAM1-induced NF-kappa-B, IRF and IFNB1 activation. Interacts with IKBKB and IKBKE. Interaction with SARM1 blocks TICAM1- dependent transcription factor activation. Interacts with TRAF3 (By similarity). Interacts with TRAF6. Interacts with TRAFD1 (By similarity). Ubiquitously expressed but with higher levels in liver. The N-terminal region is essential for activation of the IFNB promoter activity. Phosphorylated by TBK1. Contains 1 TIR domain. Sequence=AAO85488.1; Type=Frameshift; Positions=141, 148, 161; macrophage activation involved in immune response immune system process positive regulation of myeloid dendritic cell cytokine production MyD88-independent toll-like receptor signaling pathway protein binding cytoplasm mitochondrion autophagosome cytosol apoptotic process inflammatory response I-kappaB kinase/NF-kappaB signaling endosome membrane positive regulation of autophagy positive regulation of gene expression viral process protein kinase binding positive regulation of B cell proliferation positive regulation of protein ubiquitination cytoplasmic vesicle lipopolysaccharide-mediated signaling pathway positive regulation of protein binding positive regulation of type I interferon production response to lipopolysaccharide positive regulation of interleukin-6 production positive regulation of tumor necrosis factor production positive regulation of natural killer cell activation negative regulation of MyD88-independent toll-like receptor signaling pathway toll-like receptor 3 signaling pathway TRIF-dependent toll-like receptor signaling pathway positive regulation of I-kappaB kinase/NF-kappaB signaling regulation of protein complex assembly response to exogenous dsRNA positive regulation of chemokine biosynthetic process innate immune response positive regulation of interferon-beta biosynthetic process positive regulation of nitric oxide biosynthetic process positive regulation of B cell activation positive regulation of NF-kappaB transcription factor activity defense response to virus necroptotic process cellular response to lipopolysaccharide apoptotic signaling pathway ripoptosome positive regulation of cytokine production involved in inflammatory response uc002mbi.1 uc002mbi.2 uc002mbi.3 uc002mbi.4 uc002mbi.5 uc002mbi.6 
ENST00000248248.8 MON1B ENST00000248248.8 Homo sapiens MON1 homolog B, secretory trafficking associated (MON1B), transcript variant 1, mRNA. (from RefSeq NM_014940) ENST00000248248.1 ENST00000248248.2 ENST00000248248.3 ENST00000248248.4 ENST00000248248.5 ENST00000248248.6 ENST00000248248.7 HSRG1 KIAA0872 MON1B_HUMAN NM_014940 O94949 Q7L1V2 SAND2 uc002fez.1 uc002fez.2 uc002fez.3 uc002fez.4 uc002fez.5 uc002fez.6 Q9P253:VPS18; NbExp=2; IntAct=EBI-2655311, EBI-1053363; Induced in fibroblast KMB17 cells by HSV-1. Belongs to the MON1/SAND family. protein binding cytoplasm protein targeting to vacuole early viral transcription late viral transcription Mon1-Ccz1 complex uc002fez.1 uc002fez.2 uc002fez.3 uc002fez.4 uc002fez.5 uc002fez.6 
ENST00000248306.8 METTL25 ENST00000248306.8 Homo sapiens methyltransferase like 25 (METTL25), transcript variant 7, non-coding RNA. (from RefSeq NR_144943) C12orf26 ENST00000248306.1 ENST00000248306.2 ENST00000248306.3 ENST00000248306.4 ENST00000248306.5 ENST00000248306.6 ENST00000248306.7 MET25_HUMAN NR_144943 Q8N6Q8 Q9H5Y3 uc001szq.1 uc001szq.2 uc001szq.3 uc001szq.4 uc001szq.5 Putative methyltransferase (By similarity). Sequence=BAB15484.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; methyltransferase activity transferase activity methylation uc001szq.1 uc001szq.2 uc001szq.3 uc001szq.4 uc001szq.5 
ENST00000248342.9 EIF3K ENST00000248342.9 Homo sapiens eukaryotic translation initiation factor 3 subunit K (EIF3K), transcript variant 1, mRNA. (from RefSeq NM_013234) A8K0I9 ARG134 EIF3K_HUMAN EIF3S12 ENST00000248342.1 ENST00000248342.2 ENST00000248342.3 ENST00000248342.4 ENST00000248342.5 ENST00000248342.6 ENST00000248342.7 ENST00000248342.8 HSPC029 MSTP001 NM_013234 PTD001 Q96IQ0 Q9UBQ5 Q9Y6D1 uc002oiz.1 uc002oiz.2 uc002oiz.3 The 700-kD eukaryotic translation initiation factor-3 (eIF3) is the largest eIF and contains at least 12 subunits, including EIF2S12. eIF3 plays an essential role in translation by binding directly to the 40S ribosomal subunit and promoting formation of the 40S preinitiation complex (Mayeur et al., 2003 [PubMed 14519125]).[supplied by OMIM, Mar 2008]. Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S preinitiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation. Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is composed of 13 subunits: EIF3A, EIF3B, EIF3C, EIF3D, EIF3E, EIF3F, EIF3G, EIF3H, EIF3I, EIF3J, EIF3K, EIF3L and EIF3M. The eIF-3 complex appears to include 3 stable modules: module A is composed of EIF3A, EIF3B, EIF3G and EIF3I; module B is composed of EIF3F, EIF3H, and EIF3M; and module C is composed of EIF3C, EIF3D, EIF3E, EIF3K and EIF3L. EIF3C of module C binds EIF3B of module A and EIF3H of module B, thereby linking the three modules. EIF3J is a labile subunit that binds to the eIF-3 complex via EIF3B. The eIF-3 complex interacts with RPS6KB1 under conditions of nutrient depletion. Mitogenic stimulation leads to binding and activation of a complex composed of MTOR and RPTOR, leading to phosphorylation and release of RPS6KB1 and binding of EIF4B to eIF-3. Interacts with CCND3, but not with CCND1 and CCND2. Q9Q2G4:ORF (xeno); NbExp=5; IntAct=EBI-354344, EBI-6248094; Nucleus. Cytoplasm. Ubiquitous, with the highest levels of expression in brain, testis and kidney. Mass=24970.6; Method=Unknown; Range=1-218; Source=PubMed:17322308; Mass=24971.1; Mass_error=0.2; Method=MALDI; Range=1-218; Source=PubMed:18599441; Belongs to the eIF-3 subunit K family. formation of cytoplasmic translation initiation complex cytoplasmic translational initiation RNA binding translation initiation factor activity protein binding nucleus cytoplasm cytosol eukaryotic translation initiation factor 3 complex translation translational initiation regulation of translational initiation membrane eukaryotic 43S preinitiation complex eukaryotic 48S preinitiation complex ribosome binding uc002oiz.1 uc002oiz.2 uc002oiz.3 
ENST00000248378.6 EMC6 ENST00000248378.6 Homo sapiens ER membrane protein complex subunit 6 (EMC6), transcript variant 2, mRNA. (from RefSeq NM_031298) EMC6_HUMAN ENST00000248378.1 ENST00000248378.2 ENST00000248378.3 ENST00000248378.4 ENST00000248378.5 NM_031298 Q9BV81 TMEM93 uc002fwf.1 uc002fwf.2 uc002fwf.3 uc002fwf.4 Component of the ER membrane protein complex (EMC). Membrane; Multi-pass membrane protein. Belongs to the EMC6 family. autophagosome assembly protein binding endoplasmic reticulum membrane integral component of membrane integral component of endoplasmic reticulum membrane ER membrane protein complex integral component of omegasome membrane uc002fwf.1 uc002fwf.2 uc002fwf.3 uc002fwf.4 
ENST00000248384.1 OR1E2 ENST00000248384.1 Homo sapiens olfactory receptor family 1 subfamily E member 2 (OR1E2), mRNA. (from RefSeq NM_003554) NM_003554 O43877 O95632 OR1E2_HUMAN OR1E4 P47887 Q0VAD5 Q0VAD6 Q9UL13 uc010vre.1 uc010vre.2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: BC121105.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248384.1/ ENSP00000248384.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Odorant receptor (Potential). Cell membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor 1 family. Name=Human Olfactory Receptor Data Exploratorium (HORDE); URL="http://bip.weizmann.ac.il/cgi-bin/HORDE/showGene.pl?key=symbol&value=OR1E2"; G-protein coupled receptor activity olfactory receptor activity plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway sensory perception of chemical stimulus sensory perception of smell membrane integral component of membrane signaling receptor activity response to stimulus detection of chemical stimulus involved in sensory perception of smell uc010vre.1 uc010vre.2 
ENST00000248420.9 CACTIN ENST00000248420.9 Homo sapiens cactin, spliceosome C complex subunit (CACTIN), transcript variant 2, mRNA. (from RefSeq NM_021231) A6NNA9 A9UL12 C19orf29 CATIN_HUMAN ENST00000248420.1 ENST00000248420.2 ENST00000248420.3 ENST00000248420.4 ENST00000248420.5 ENST00000248420.6 ENST00000248420.7 ENST00000248420.8 NM_021231 O75229 Q7LE08 Q8WUQ7 Q9BTA6 Q9Y5A4 uc002lyi.1 uc002lyi.2 uc002lyi.3 uc002lyi.4 uc002lyi.5 Involved in the regulation of innate immune response. Acts as negative regulator of Toll-like receptor and interferon- regulatory factor (IRF) signaling pathways. Contributes to the regulation of transcriptional activation of NF-kappa-B target genes in response to endogenous proinflammatory stimuli. May play a role during early embryonic development. Probably involved in pre-mRNA splicing. Interacts (via N-terminus domain) with NFKBIL1; the interaction occurs in a proinflammatory-independent manner. Does not interact with RELA NF-kappa-B subunit. Identified in the spliceosome C complex. Nucleus. Note=Nuclear localization with a speckled expression pattern in some cells. Colocalizes with NFKBIL1 in the nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8WUQ7-1; Sequence=Displayed; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Name=2; IsoId=Q8WUQ7-2; Sequence=VSP_017856; Note=No experimental confirmation available; Antigen recognized by autologous antibody in patients with renal-cell carcinoma. Belongs to the CACTIN family. An ORF (C19orf029 OS) has been described in the opposite strand of the C-terminus of this gene. Sequence=AAC24305.1; Type=Erroneous gene model prediction; Sequence=AAC32903.1; Type=Erroneous gene model prediction; Sequence=AAD42868.1; Type=Frameshift; Positions=711; Sequence=AAH04262.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=EAW69298.1; Type=Erroneous gene model prediction; mRNA splicing, via spliceosome negative regulation of protein phosphorylation immune system process RNA binding protein binding nucleus nucleoplasm spliceosomal complex cytosol mRNA processing multicellular organism development RNA splicing nuclear speck negative regulation of lipopolysaccharide-mediated signaling pathway negative regulation of NF-kappaB transcription factor activity negative regulation of interferon-beta production negative regulation of interleukin-8 production negative regulation of tumor necrosis factor production negative regulation of toll-like receptor signaling pathway innate immune response negative regulation of type I interferon-mediated signaling pathway catalytic step 2 spliceosome cellular response to lipopolysaccharide cellular response to interleukin-1 cellular response to tumor necrosis factor uc002lyi.1 uc002lyi.2 uc002lyi.3 uc002lyi.4 uc002lyi.5 
ENST00000248444.10 VIL1 ENST00000248444.10 Homo sapiens villin 1 (VIL1), mRNA. (from RefSeq NM_007127) B2R9A7 ENST00000248444.1 ENST00000248444.2 ENST00000248444.3 ENST00000248444.4 ENST00000248444.5 ENST00000248444.6 ENST00000248444.7 ENST00000248444.8 ENST00000248444.9 NM_007127 P09327 VIL VILI_HUMAN uc002via.1 uc002via.2 uc002via.3 uc002via.4 uc002via.5 This gene encodes a member of a family of calcium-regulated actin-binding proteins. This protein represents a dominant part of the brush border cytoskeleton which functions in the capping, severing, and bundling of actin filaments. Two mRNAs of 2.7 kb and 3.5 kb have been observed; they result from utilization of alternate poly-adenylation signals present in the terminal exon. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK313709.1, AK223398.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248444.10/ ENSP00000248444.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Epithelial cell-specific Ca(2+)-regulated actin- modifying protein that modulates the reorganization of microvillar actin filaments. Plays a role in the actin nucleation, actin filament bundle assembly, actin filament capping and severing. Binds phosphatidylinositol 4,5-bisphosphate (PIP2) and lysophosphatidic acid (LPA); binds LPA with higher affinity than PIP2. Binding to LPA increases its phosphorylation by SRC and inhibits all actin-modifying activities. Binding to PIP2 inhibits actin-capping and -severing activities but enhances actin-bundling activity. Regulates the intestinal epithelial cell morphology, cell invasion, cell migration and apoptosis. Protects against apoptosis induced by dextran sodium sulfate (DSS) in the gastrointestinal epithelium. Appears to regulate cell death by maintaining mitochondrial integrity. Enhances hepatocyte growth factor (HGF)-induced epithelial cell motility, chemotaxis and wound repair. Upon S.flexneri cell infection, its actin-severing activity enhances actin-based motility of the bacteria and plays a role during the dissemination. Monomer. Homodimer; homodimerization is necessary for actin-bundling. Associates with F-actin; phosphorylation at tyrosines residues decreases the association with F-actin. Interacts (phosphorylated at C-terminus tyrosine phosphorylation sites) with PLCG1 (via the SH2 domains). Interacts (phosphorylated form) with PLCG1; the interaction is enhanced by hepatocyte growth factor (HGF) (By similarity). Self; NbExp=9; IntAct=EBI-1047253, EBI-1047253; P19174:PLCG1; NbExp=5; IntAct=EBI-1047253, EBI-79387; Cytoplasm, cytoskeleton. Cell projection, lamellipodium. Cell projection, ruffle. Cell projection, microvillus. Cell projection, filopodium tip (By similarity). Cell projection, filopodium (By similarity). Note=Relocalized in the tip of cellular protrusions and filipodial extensions upon infection with S.flexneri in primary intestinal epithelial cells (IEC) and in the tail-like structures forming the actin comets of S.flexneri. Redistributed to the leading edge of hepatocyte growth factor (HGF)-induced lamellipodia (By similarity). Rapidly redistributed to ruffles and lamellipodia structures in response to autotaxin, lysophosphatidic acid (LPA) and epidermal growth factor (EGF) treatment. Specifically expressed in epithelial cells. Major component of microvilli of intestinal epithelial cells and kidney proximal tubule cells. Expressed in canalicular microvilli of hepatocytes (at protein level). Consists of a large core fragment in the N-terminal portion and a small headpiece (HP) in the C-terminal portion. The core fragment is necessary for both actin-nucleating and -severing activities, whereas the HP binds F-actin strongly in both the presence and absence of calcium and is necessary in actin-bundling activity. The Gelsolin-like 1 repeat is necessary for the actin- capping activity. The entire core fragment is necessary for the actin-severing activity. Two major calcium-sensitive sites are involved in conformational changes and determine separate functional properties: the first site (Glu-25, Asp-44 and Glu-74) regulates the actin-capping and actin-severing activities; while the second site (Asp-61, Asp-86 and Ala-93) regulates only the actin-severing activity. Tyrosine phosphorylation is induced by epidermal growth factor (EGF) and stimulates cell migration (By similarity). Phosphorylated on tyrosine residues by SRC. The unphosphorylated form increases the initial rate of actin-nucleating activity, whereas the tyrosine-phosphorlyated form inhibits actin-nucleating activity, enhances actin-bundling activity and enhances actin- severing activity by reducing high Ca(2+) requirements. The tyrosine-phosphorlyated form does not regulate actin-capping activity. Tyrosine phosphorylation is essential for cell migration: tyrosine phosphorylation sites in the N-terminus half regulate actin reorganization and cell morphology, whereas tyrosine phosphorylation sites in the C-terminus half regulate cell migration via interaction with PLCG1. Note=Biliary atresia is a chronic and progressive cholestatic liver disease of chilhood characterized by an abnormal villin gene expression and severe malformation of canalicular microvillus structure. Belongs to the villin/gelsolin family. Contains 6 gelsolin-like repeats. Contains 1 HP (headpiece) domain. ruffle intestinal D-glucose absorption actin binding calcium ion binding protein binding phosphatidylinositol-4,5-bisphosphate binding cytoplasm cytoskeleton plasma membrane microvillus brush border apoptotic process cytoskeleton organization epidermal growth factor receptor signaling pathway regulation of cell shape response to bacterium positive regulation of epithelial cell migration lamellipodium actin filament polymerization actin filament depolymerization filopodium positive regulation of cell migration positive regulation of actin filament depolymerization epithelial cell differentiation positive regulation of actin filament bundle assembly actin filament bundle filopodium tip regulation of microvillus length lysophosphatidic acid binding cellular response to hepatocyte growth factor stimulus positive regulation of multicellular organism growth identical protein binding protein homodimerization activity cell projection cysteine-type endopeptidase inhibitor activity involved in apoptotic process negative regulation of cysteine-type endopeptidase activity involved in apoptotic process actin nucleation actin filament severing actin filament binding barbed-end actin filament capping regulation of actin nucleation actin filament capping cytoplasmic actin-based contraction involved in cell motility regulation of wound healing macromolecular complex assembly extracellular exosome cellular response to epidermal growth factor stimulus terminal web assembly positive regulation of protein localization to plasma membrane regulation of lamellipodium morphogenesis positive regulation of lamellipodium morphogenesis uc002via.1 uc002via.2 uc002via.3 uc002via.4 uc002via.5 
ENST00000248484.9 TNFRSF19 ENST00000248484.9 Homo sapiens TNF receptor superfamily member 19 (TNFRSF19), transcript variant 2, mRNA. (from RefSeq NM_148957) B1AM40 B1AM41 ENST00000248484.1 ENST00000248484.2 ENST00000248484.3 ENST00000248484.4 ENST00000248484.5 ENST00000248484.6 ENST00000248484.7 ENST00000248484.8 NM_148957 Q9BXZ9 Q9BY00 Q9NS68 Q9NZV2 TAJ TNR19_HUMAN TROY UNQ1888/PRO4333 uc001uot.1 uc001uot.2 uc001uot.3 uc001uot.4 uc001uot.5 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is highly expressed during embryonic development. It has been shown to interact with TRAF family members, and to activate JNK signaling pathway when overexpressed in cells. This receptor is capable of inducing apoptosis by a caspase-independent mechanism, and it is thought to play an essential role in embryonic development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]. Can mediate activation of JNK and NF-kappa-B. May promote caspase-independent cell death. Associates with TRAF1, TRAF2, TRAF3 and TRAF5. Interacts with LINGO1. Membrane; Single-pass type I membrane protein (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=TAJ-alpha, TRADEalpha; IsoId=Q9NS68-1; Sequence=Displayed; Name=2; Synonyms=TRADEbeta; IsoId=Q9NS68-2; Sequence=VSP_006512; Highly expressed in prostate. Detected at lower levels in thymus, spleen, testis, uterus, small intestine, colon and peripheral blood leukocytes. Contains 3 TNFR-Cys repeats. hair follicle development tumor necrosis factor-activated receptor activity protein binding plasma membrane apoptotic process JNK cascade membrane integral component of membrane tumor necrosis factor-mediated signaling pathway signaling receptor activity positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of JNK cascade uc001uot.1 uc001uot.2 uc001uot.3 uc001uot.4 uc001uot.5 
ENST00000248553.7 HSPB1 ENST00000248553.7 Homo sapiens heat shock protein family B (small) member 1 (HSPB1), mRNA. (from RefSeq NM_001540) ENST00000248553.1 ENST00000248553.2 ENST00000248553.3 ENST00000248553.4 ENST00000248553.5 ENST00000248553.6 NM_001540 V9HW43 uc003uew.1 uc003uew.2 uc003uew.3 uc003uew.4 uc003uew.5 This gene encodes a member of the small heat shock protein (HSP20) family of proteins. In response to environmental stress, the encoded protein translocates from the cytoplasm to the nucleus and functions as a molecular chaperone that promotes the correct folding of other proteins. This protein plays an important role in the differentiation of a wide variety of cell types. Expression of this gene is correlated with poor clinical outcome in multiple human cancers, and the encoded protein may promote cancer cell proliferation and metastasis, while protecting cancer cells from apoptosis. Mutations in this gene have been identified in human patients with Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. [provided by RefSeq, Aug 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC012292.1, X54079.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248553.7/ ENSP00000248553.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## uc003uew.1 uc003uew.2 uc003uew.3 uc003uew.4 uc003uew.5 
ENST00000248564.6 GNG11 ENST00000248564.6 Homo sapiens G protein subunit gamma 11 (GNG11), mRNA. (from RefSeq NM_004126) ENST00000248564.1 ENST00000248564.2 ENST00000248564.3 ENST00000248564.4 ENST00000248564.5 NM_004126 Q53Y01 Q53Y01_HUMAN hCG_19197 tcag7.247 uc003und.1 uc003und.2 uc003und.3 uc003und.4 uc003und.5 This gene is a member of the guanine nucleotide-binding protein (G protein) gamma family and encodes a lipid-anchored, cell membrane protein. As a member of the heterotrimeric G protein complex, this protein plays a role in this transmembrane signaling system. This protein is also subject to carboxyl-terminal processing. Decreased expression of this gene is associated with splenic marginal zone lymphomas. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.62543.1, SRR1660803.252836.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248564.6/ ENSP00000248564.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction (By similarity). G proteins are composed of 3 units; alpha, beta and gamma (By similarity). Cell membrane; Lipid-anchor; Cytoplasmic side (By similarity). Belongs to the G protein gamma family. GTPase activity protein binding heterotrimeric G-protein complex plasma membrane signal transduction G-protein coupled receptor signaling pathway membrane uc003und.1 uc003und.2 uc003und.3 uc003und.4 uc003und.5 
ENST00000248566.4 SEM1 ENST00000248566.4 Homo sapiens SEM1 26S proteasome complex subunit (SEM1), transcript variant 5, mRNA. (from RefSeq NM_006304) ENST00000248566.1 ENST00000248566.2 ENST00000248566.3 NM_006304 Q6IBB7 Q6IBB7_HUMAN SHFM1 hCG_2023166 tcag7.1219 uc003uoi.1 uc003uoi.2 uc003uoi.3 uc003uoi.4 uc003uoi.5 The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008]. proteasome complex mRNA export from nucleus proteasome regulatory particle, lid subcomplex proteasome assembly uc003uoi.1 uc003uoi.2 uc003uoi.3 uc003uoi.4 uc003uoi.5 
ENST00000248572.10 GNGT1 ENST00000248572.10 Homo sapiens G protein subunit gamma transducin 1 (GNGT1), transcript variant 1, mRNA. (from RefSeq NM_021955) A4D1H2 ENST00000248572.1 ENST00000248572.2 ENST00000248572.3 ENST00000248572.4 ENST00000248572.5 ENST00000248572.6 ENST00000248572.7 ENST00000248572.8 ENST00000248572.9 GBG1_HUMAN NM_021955 O43835 P63211 Q08447 Q16026 uc003unc.1 uc003unc.2 uc003unc.3 This gene encodes the gamma subunit of transducin, a guanine nucleotide-binding protein (G protein) that is found in rod outer segments. Transducin, also known as GMPase, mediates the activation of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase by rhodopsin. [provided by RefSeq, Jul 2016]. Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction. G proteins are composed of 3 units, alpha, beta and gamma. Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Retinal rod outer segment. Belongs to the G protein gamma family. photoreceptor outer segment photoreceptor inner segment GTPase activity protein binding heterotrimeric G-protein complex plasma membrane signal transduction G-protein coupled receptor signaling pathway phototransduction protein localization cardiac muscle cell apoptotic process membrane rhodopsin mediated signaling pathway G-protein beta/gamma-subunit complex G-protein beta-subunit binding eye photoreceptor cell development cellular response to hypoxia photoreceptor disc membrane uc003unc.1 uc003unc.2 uc003unc.3 
ENST00000248594.11 PTPN12 ENST00000248594.11 Homo sapiens protein tyrosine phosphatase non-receptor type 12 (PTPN12), transcript variant 1, mRNA. (from RefSeq NM_002835) ENST00000248594.1 ENST00000248594.10 ENST00000248594.2 ENST00000248594.3 ENST00000248594.4 ENST00000248594.5 ENST00000248594.6 ENST00000248594.7 ENST00000248594.8 ENST00000248594.9 NM_002835 PTN12_HUMAN Q05209 Q16130 Q59FD6 Q75MN8 Q86XU4 uc003ugh.1 uc003ugh.2 uc003ugh.3 uc003ugh.4 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]. Dephosphorylates cellular tyrosine kinases, including PTK2B/PYK2, and thereby regulates signaling via PTK2B/PYK2. Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate. Interacts with TGFB1I1 (By similarity). Interacts with PSTPIP1. Interacts with PTK2B/PYK2. Interacts with LPXN (By similarity). P04626:ERBB2; NbExp=4; IntAct=EBI-2266035, EBI-641062; P09619:PDGFRB; NbExp=2; IntAct=EBI-2266035, EBI-641237; Q02763:TEK; NbExp=2; IntAct=EBI-2266035, EBI-2257090; Cytoplasm. Cell projection, podosome (By similarity). Phosphorylated by STK24/MST3 and this results in inhibition of its activity. Belongs to the protein-tyrosine phosphatase family. Non-receptor class 4 subfamily. Contains 1 tyrosine-protein phosphatase domain. Sequence=BAD92761.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; podosome phosphoprotein phosphatase activity protein tyrosine phosphatase activity non-membrane spanning protein tyrosine phosphatase activity protein binding nucleoplasm cytoplasm cytosol focal adhesion protein dephosphorylation dephosphorylation hydrolase activity phosphatase activity SH3 domain binding cell junction peptidyl-tyrosine dephosphorylation ERBB2 signaling pathway regulation of epidermal growth factor receptor signaling pathway tissue regeneration cell projection cellular response to cytokine stimulus cellular response to epidermal growth factor stimulus negative regulation of ERBB signaling pathway negative regulation of platelet-derived growth factor receptor-beta signaling pathway uc003ugh.1 uc003ugh.2 uc003ugh.3 uc003ugh.4 
ENST00000248598.6 FGL2 ENST00000248598.6 Homo sapiens fibrinogen like 2 (FGL2), mRNA. (from RefSeq NM_006682) ENST00000248598.1 ENST00000248598.2 ENST00000248598.3 ENST00000248598.4 ENST00000248598.5 FGL2_HUMAN NM_006682 Q14314 uc003ugb.1 uc003ugb.2 uc003ugb.3 uc003ugb.4 uc003ugb.5 The protein encoded by this gene is a secreted protein that is similar to the beta- and gamma-chains of fibrinogen. The carboxyl-terminus of the encoded protein consists of the fibrinogen-related domains (FRED). The encoded protein forms a tetrameric complex which is stabilized by interchain disulfide bonds. This protein may play a role in physiologic functions at mucosal sites. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.35522.1, SRR1660803.186075.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248598.6/ ENSP00000248598.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May play a role in physiologic lymphocyte functions at mucosal sites. Homotetramer; disulfide-linked. Secreted. Constitutively expressed in cytotoxic T-cells. Contains 1 fibrinogen C-terminal domain. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/fgl2/"; T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell immunoglobulin production involved in immunoglobulin mediated immune response negative regulation of dendritic cell antigen processing and presentation negative regulation of macrophage antigen processing and presentation extracellular matrix structural constituent extracellular region fibrinogen complex proteolysis peptidase activity neutrophil degranulation negative regulation of memory T cell differentiation negative regulation of defense response to virus extracellular exosome ficolin-1-rich granule lumen uc003ugb.1 uc003ugb.2 uc003ugb.3 uc003ugb.4 uc003ugb.5 
ENST00000248600.5 STYXL1 ENST00000248600.5 Homo sapiens serine/threonine/tyrosine interacting like 1 (STYXL1), transcript variant 8, non-coding RNA. (from RefSeq NR_134487) DUSP24 ENST00000248600.1 ENST00000248600.2 ENST00000248600.3 ENST00000248600.4 MKSTYX NR_134487 Q9UBP1 Q9UK06 Q9UK07 Q9UKG2 Q9UKG3 Q9Y6J8 STYL1_HUMAN uc003uel.1 uc003uel.2 uc003uel.3 uc003uel.4 Probable pseudophosphatase. Contains a Ser residue instead of a conserved Cys residue in the dsPTPase catalytic loop which probably renders it catalytically inactive as a phosphatase. The binding pocket may be however sufficiently preserved to bind phosphorylated substrates, and maybe protect them from phosphatases. Event=Alternative splicing; Named isoforms=5; Comment=Experimental confirmation may be lacking for some isoforms; Name=1; IsoId=Q9Y6J8-1; Sequence=Displayed; Name=2; IsoId=Q9Y6J8-2; Sequence=VSP_005178, VSP_005179; Name=3; IsoId=Q9Y6J8-3; Sequence=VSP_005180; Name=4; IsoId=Q9Y6J8-4; Sequence=VSP_005175; Name=5; IsoId=Q9Y6J8-5; Sequence=VSP_005176, VSP_005177; Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily. Contains 1 rhodanese domain. Contains 1 tyrosine-protein phosphatase domain. pseudophosphatase activity protein phosphatase inhibitor activity protein binding mitochondrion mitochondrial matrix protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity positive regulation of neuron projection development dephosphorylation protein phosphatase binding negative regulation of phosphoprotein phosphatase activity intracellular signal transduction regulation of intrinsic apoptotic signaling pathway positive regulation of intrinsic apoptotic signaling pathway uc003uel.1 uc003uel.2 uc003uel.3 uc003uel.4 
ENST00000248633.9 PEX1 ENST00000248633.9 Homo sapiens peroxisomal biogenesis factor 1 (PEX1), transcript variant 1, mRNA. (from RefSeq NM_000466) A4D1G3 A8KA90 ENST00000248633.1 ENST00000248633.2 ENST00000248633.3 ENST00000248633.4 ENST00000248633.5 ENST00000248633.6 ENST00000248633.7 ENST00000248633.8 NM_000466 O43933 PEX1_HUMAN Q96S71 Q96S72 Q96S73 Q99994 uc003uly.1 uc003uly.2 uc003uly.3 uc003uly.4 uc003uly.5 This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]. Required for stability of PEX5 and protein import into the peroxisome matrix. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Interacts directly with PEX6. Interacts indirectly with PEX26, via its interaction with PEX6. Q13608:PEX6; NbExp=2; IntAct=EBI-988601, EBI-988581; Cytoplasm. Peroxisome membrane. Note=Associated with peroxisomal membranes. Phosphorylated upon DNA damage, probably by ATM or ATR. Defects in PEX1 are the cause of peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:602136]; also known as PBD-CGE. PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum. The PBD group is genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Defects in PEX1 are a cause of adrenoleukodystrophy neonatal (NALD) [MIM:202370]. NALD is a peroxisome biogenesis disorder (PBD) characterized by the accumulation of very long- chain fatty acids, adrenal insufficiency and mental retardation. Defects in PEX1 are a cause of infantile Refsum disease (IRD) [MIM:266510]. IRD is a mild peroxisome biogenesis disorder (PBD). Clinical features include early onset, mental retardation, minor facial dysmorphism, retinopathy, sensorineural hearing deficit, hepatomegaly, osteoporosis, failure to thrive, and hypocholesterolemia. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. Belongs to the AAA ATPase family. Sequence=AAB46346.1; Type=Erroneous gene model prediction; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PEX1"; Name=dbPEX, PEX Gene Database; URL="http://www.dbpex.org/home.php?select_db=PEX1"; nucleotide binding protein binding ATP binding cytoplasm peroxisome peroxisomal membrane cytosol protein targeting to peroxisome peroxisome organization protein C-terminus binding protein transport membrane protein import into peroxisome matrix ATPase activity ATPase activity, coupled macromolecular complex binding microtubule-based peroxisome localization extracellular exosome uc003uly.1 uc003uly.2 uc003uly.3 uc003uly.4 uc003uly.5 
ENST00000248668.5 LRFN1 ENST00000248668.5 Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA. (from RefSeq NM_020862) ENST00000248668.1 ENST00000248668.2 ENST00000248668.3 ENST00000248668.4 KIAA1484 LRFN1_HUMAN NM_020862 Q8TBS9 Q9P244 SALM2 uc002okw.1 uc002okw.2 uc002okw.3 uc002okw.4 Promotes neurite outgrowth in hippocampal neurons. Involved in the regulation and maintenance of excitatory synapses. Induces the clustering of excitatory postsynaptic proteins, including DLG4, DLGAP1, GRIA1 and GRIN1 (By similarity). Can form heteromeric complexes with LRFN2, LRFN3, LRFN4 and LRFN5 (By similarity). Forms homomeric complexes, but not across cell junctions (By similarity). Interacts with DLG1, DLG2, DLG3 and DLG4. Interacts with 2 AMPA receptor subunits GRIA1 and GRIA2 and NMDA receptor subunit GRIN1 (By similarity). Membrane; Single-pass type I membrane protein (By similarity). Cell junction, synapse (By similarity). Cell junction, synapse, postsynaptic cell membrane, postsynaptic density (By similarity). Note=Detected in excitatory, but not inhibitory, synaptic plasma membrane (By similarity). The PDZ-binding motif is required for neurite outgrowth promotion and for DLG1-, DLG3- and DLG4-binding (By similarity). Phosphorylated upon DNA damage, probably by ATM or ATR. Glycosylated (By similarity). Belongs to the LRFN family. Contains 1 fibronectin type-III domain. Contains 1 Ig-like (immunoglobulin-like) domain. Contains 7 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. Contains 1 LRRNT domain. plasma membrane cell surface postsynaptic density membrane integral component of membrane cell junction synapse postsynaptic membrane integral component of postsynaptic density membrane uc002okw.1 uc002okw.2 uc002okw.3 uc002okw.4 
ENST00000248701.8 SPINK2 ENST00000248701.8 Homo sapiens serine peptidase inhibitor Kazal type 2 (SPINK2), transcript variant 2, mRNA. (from RefSeq NM_021114) ENST00000248701.1 ENST00000248701.2 ENST00000248701.3 ENST00000248701.4 ENST00000248701.5 ENST00000248701.6 ENST00000248701.7 ISK2_HUMAN NM_021114 P20155 Q6FGH2 uc003hcg.1 uc003hcg.2 uc003hcg.3 This gene encodes a member of the family of serine protease inhibitors of the Kazal type (SPINK). The encoded protein acts as a trypsin and acrosin inhibitor in the genital tract and is localized in the spermatozoa. The protein has been associated with the progression of lymphomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]. Strong inhibitor of acrosin in male and/or female genital tract. Also inhibits trypsin. Secreted. Expressed in epididymis (at protein level). Contains 1 Kazal-like domain. acrosomal vesicle acrosome assembly endopeptidase inhibitor activity serine-type endopeptidase inhibitor activity protein binding extracellular region spermatid development negative regulation of peptidase activity peptidase inhibitor activity cytoplasmic vesicle negative regulation of serine-type endopeptidase activity uc003hcg.1 uc003hcg.2 uc003hcg.3 
ENST00000248706.5 RASL11B ENST00000248706.5 Homo sapiens RAS like family 11 member B (RASL11B), mRNA. (from RefSeq NM_023940) B2RC51 ENST00000248706.1 ENST00000248706.2 ENST00000248706.3 ENST00000248706.4 NM_023940 Q96KC5 Q9BPW5 RSLBB_HUMAN uc003gzt.1 uc003gzt.2 uc003gzt.3 uc003gzt.4 uc003gzt.5 RASL11B is a member of the small GTPase protein family with a high degree of similarity to RAS (see HRAS, MIM 190020) proteins.[supplied by OMIM, Nov 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.602430.1, SRR3476690.442080.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248706.5/ ENSP00000248706.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Widely expressed with highest levels in placenta and primary macrophages. Up-regulated during development of primary monocytes into macrophages. By TGFB1. Belongs to the small GTPase superfamily. Ras family. nucleotide binding GTPase activity transforming growth factor beta receptor binding GTP binding signal transduction membrane negative regulation of transforming growth factor beta receptor signaling pathway uc003gzt.1 uc003gzt.2 uc003gzt.3 uc003gzt.4 uc003gzt.5 
ENST00000248846.10 TUBGCP6 ENST00000248846.10 Homo sapiens tubulin gamma complex associated protein 6 (TUBGCP6), mRNA. (from RefSeq NM_020461) ENST00000248846.1 ENST00000248846.2 ENST00000248846.3 ENST00000248846.4 ENST00000248846.5 ENST00000248846.6 ENST00000248846.7 ENST00000248846.8 ENST00000248846.9 GCP6 GCP6_HUMAN KIAA1669 NM_020461 Q5JZ80 Q6PJ40 Q86YE9 Q96RT7 Q9BY91 Q9UGX3 Q9UGX4 uc003bkb.1 uc003bkb.2 uc003bkb.3 The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF272887.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248846.10/ ENSP00000248846.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome. Gamma-tubulin complex is composed of gamma-tubulin, TUBGCP2, TUBGCP3, TUBGCP4, TUBGCP5 and TUBGCP6. Cytoplasm, cytoskeleton, centrosome. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96RT7-1; Sequence=Displayed; Name=2; IsoId=Q96RT7-2; Sequence=VSP_001624; Note=No experimental confirmation available; Name=3; IsoId=Q96RT7-3; Sequence=VSP_017208, VSP_017209; Note=No experimental confirmation available; Defects in TUBGCP6 are the cause of microcephaly with chorioretinopathy, autosomal recessive (MCPHCR) [MIM:251270]. A syndrome characterized by microcephaly, cognitive impairment, underdeveloped retina and choroid, and epilepsy in some patients. The more anterior parts of the retina, near the periphery and pars plana, have a grayish hue and diminutive vasculature similar to retinopathy of prematurity. Visual impairment becomes evident during the first year of life. Belongs to the TUBGCP family. Sequence=AAH42165.1; Type=Frameshift; Positions=1651, 1723; Sequence=BAB33339.1; Type=Miscellaneous discrepancy; Note=Intron retention; microtubule cytoskeleton organization mitotic cell cycle spindle pole equatorial microtubule organizing center gamma-tubulin complex cytoplasm centrosome microtubule organizing center cytosol cytoskeleton microtubule microtubule nucleation microtubule binding gamma-tubulin ring complex membrane cytoplasmic microtubule organization gamma-tubulin binding spindle assembly meiotic cell cycle interphase microtubule nucleation by interphase microtubule organizing center microtubule minus-end binding uc003bkb.1 uc003bkb.2 uc003bkb.3 
ENST00000248879.8 DGCR6L ENST00000248879.8 Homo sapiens DiGeorge syndrome critical region gene 6 like (DGCR6L), mRNA. (from RefSeq NM_033257) A8K1N7 D3DX29 DGC6L_HUMAN ENST00000248879.1 ENST00000248879.2 ENST00000248879.3 ENST00000248879.4 ENST00000248879.5 ENST00000248879.6 ENST00000248879.7 NM_033257 Q9BW33 Q9BY27 uc002zrx.1 uc002zrx.2 uc002zrx.3 uc002zrx.4 uc002zrx.5 This gene, the result of a duplication at this locus, is one of two functional genes encoding nearly identical proteins that have similar expression patterns. The product of this gene is a protein that shares homology with the Drosophila gonadal protein, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR7410570.684320.1, SRR1163655.203191.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142853 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248879.8/ ENSP00000248879.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May play a role in neural crest cell migration into the third and fourth pharyngeal pouches. Nucleus. Note=Predominantly nuclear. Widely expressed in fetal and adult tissues. Highest expression in liver, heart and skeletal muscle. Lower levels in pancreas and placenta. Weak expression in brain. Belongs to the gonadal family. protein binding nucleus uc002zrx.1 uc002zrx.2 uc002zrx.3 uc002zrx.4 uc002zrx.5 
ENST00000248899.11 NCF4 ENST00000248899.11 Homo sapiens neutrophil cytosolic factor 4 (NCF4), transcript variant 1, mRNA. (from RefSeq NM_000631) A8K4F9 ENST00000248899.1 ENST00000248899.10 ENST00000248899.2 ENST00000248899.3 ENST00000248899.4 ENST00000248899.5 ENST00000248899.6 ENST00000248899.7 ENST00000248899.8 ENST00000248899.9 NCF4_HUMAN NM_000631 O60808 Q15080 Q86U56 Q9BU98 Q9NP45 SH3PXD4 uc003apy.1 uc003apy.2 uc003apy.3 uc003apy.4 uc003apy.5 uc003apy.6 The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. Component of the NADPH-oxidase, a multicomponent enzyme system responsible for the oxidative burst in which electrons are transported from NADPH to molecular oxygen, generating reactive oxidant intermediates. It may be important for the assembly and/or activation of the NADPH-oxidase complex. p40-PHOX associates primarily with p67-PHOX to form a complex with p47-PHOX. Cytoplasm. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q15080-1; Sequence=Displayed; Name=2; IsoId=Q15080-2; Sequence=VSP_004328; Name=3; IsoId=Q15080-3; Sequence=VSP_042681; Expression is restricted to hematopoietic cells. The OPR/PB1 domain mediates the association with NCF2/p67- PHOX. Defects in NCF4 are the cause of chronic granulomatous disease autosomal recessive cytochrome-b-positive type 3 (CGD3) [MIM:613960]. CGD3 is a disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections. Contains 1 OPR domain. Contains 1 PX (phox homology) domain. Contains 1 SH3 domain. antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent protein binding cytoplasm endosome cytosol superoxide metabolic process phagocytosis immune response lipid binding endosome membrane membrane superoxide-generating NADPH oxidase activator activity phagolysosome phosphatidylinositol-3-phosphate binding cellular response to oxidative stress phosphatidylinositol binding NADPH oxidase complex positive regulation of catalytic activity cell redox homeostasis respiratory burst protein dimerization activity vascular endothelial growth factor receptor signaling pathway oxidation-reduction process uc003apy.1 uc003apy.2 uc003apy.3 uc003apy.4 uc003apy.5 uc003apy.6 
ENST00000248901.11 CYTH4 ENST00000248901.11 Homo sapiens cytohesin 4 (CYTH4), transcript variant 1, mRNA. (from RefSeq NM_013385) CYH4_HUMAN CYT4 ENST00000248901.1 ENST00000248901.10 ENST00000248901.2 ENST00000248901.3 ENST00000248901.4 ENST00000248901.5 ENST00000248901.6 ENST00000248901.7 ENST00000248901.8 ENST00000248901.9 NM_013385 PSCD4 Q5R3F9 Q9UGT6 Q9UIA0 uc003arf.1 uc003arf.2 uc003arf.3 uc003arf.4 uc003arf.5 This gene encodes a member of the PSCD family of proteins, which have an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family function as GEPs for ADP-ribosylation factors (ARFs), which are guanine nucleotide-binding proteins involved in vesicular trafficking pathways. This protein exhibits GEP activity in vitro with ARF1 and ARF5, but is inactive with ARF6. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]. Promotes guanine-nucleotide exchange on ARF1 and ARF5. Promotes the activation of ARF through replacement of GDP with GTP. Cell membrane. Expressed predominantly in peripheral blood leukocytes. Contains 1 PH domain. Contains 1 SEC7 domain. Golgi membrane guanyl-nucleotide exchange factor activity ARF guanyl-nucleotide exchange factor activity cytosol plasma membrane lipid binding membrane regulation of ARF protein signal transduction uc003arf.1 uc003arf.2 uc003arf.3 uc003arf.4 uc003arf.5 
ENST00000248924.11 GCAT ENST00000248924.11 Homo sapiens glycine C-acetyltransferase (GCAT), transcript variant 2, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_014291) ENST00000248924.1 ENST00000248924.10 ENST00000248924.2 ENST00000248924.3 ENST00000248924.4 ENST00000248924.5 ENST00000248924.6 ENST00000248924.7 ENST00000248924.8 ENST00000248924.9 KBL KBL_HUMAN NM_014291 O75600 Q96CA9 uc003atz.1 uc003atz.2 uc003atz.3 uc003atz.4 uc003atz.5 The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 14. [provided by RefSeq, Jan 2010]. Acetyl-CoA + glycine = CoA + 2-amino-3- oxobutanoate. Pyridoxal phosphate (By similarity). Amino-acid degradation; L-threonine degradation via oxydo-reductase pathway; glycine from L-threonine: step 2/2. Mitochondrion (By similarity). Nucleus. Note=Translocates to the nucleus upon cold and osmotic stress. Strongly expressed in heart, brain, liver and pancreas. Also found in lung. Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family. catalytic activity nucleus nucleoplasm mitochondrion mitochondrial inner membrane cellular amino acid metabolic process threonine catabolic process glycine C-acetyltransferase activity biosynthetic process nuclear speck transferase activity transferase activity, transferring acyl groups L-threonine catabolic process to glycine pyridoxal phosphate binding uc003atz.1 uc003atz.2 uc003atz.3 uc003atz.4 uc003atz.5 
ENST00000248929.14 SGSM3 ENST00000248929.14 Homo sapiens small G protein signaling modulator 3 (SGSM3), transcript variant 16, non-coding RNA. (from RefSeq NR_146415) B0QY79 ENST00000248929.1 ENST00000248929.10 ENST00000248929.11 ENST00000248929.12 ENST00000248929.13 ENST00000248929.2 ENST00000248929.3 ENST00000248929.4 ENST00000248929.5 ENST00000248929.6 ENST00000248929.7 ENST00000248929.8 ENST00000248929.9 MAP NR_146415 Q7Z709 Q96HU1 Q9NT69 RABGAPLP RUTBC3 SGSM3_HUMAN uc003ayu.1 uc003ayu.2 uc003ayu.3 May play a cooperative role in NF2-mediated growth suppression of cells. Interacts with GJA1. Interaction with GJA1 induces its degradation (By similarity). Interacts via its RUN domain with the C-terminal region of NF2. Interacts with RAB3A, RAB4A, RAB5A, RAB8A, RAB11A, RAP1A, RAP1B, RAP2A, RAP2B and PDCD6IP. No interaction with RAB27A. Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96HU1-1; Sequence=Displayed; Name=2; IsoId=Q96HU1-2; Sequence=VSP_052561; Note=Gene prediction based on EST data; Widely expressed. Belongs to the small G protein signaling modulator family. Contains 1 Rab-GAP TBC domain. Contains 1 RUN domain. Contains 1 SH3 domain. GTPase activator activity protein binding cytoplasm cytosol gap junction intracellular protein transport cell cycle cell cycle arrest Rab GTPase binding regulation of Rab protein signal transduction Rap protein signal transduction positive regulation of GTPase activity positive regulation of protein catabolic process plasma membrane to endosome transport activation of GTPase activity regulation of cilium assembly uc003ayu.1 uc003ayu.2 uc003ayu.3 
ENST00000248933.11 SEZ6L ENST00000248933.11 Homo sapiens seizure related 6 homolog like (SEZ6L), transcript variant 1, mRNA. (from RefSeq NM_021115) A0AUW7 B0QYG4 B0QYG5 ENST00000248933.1 ENST00000248933.10 ENST00000248933.2 ENST00000248933.3 ENST00000248933.4 ENST00000248933.5 ENST00000248933.6 ENST00000248933.7 ENST00000248933.8 ENST00000248933.9 KIAA0927 NM_021115 O95917 Q5THY5 Q6IBZ4 Q6UXD4 Q9BYH1 Q9NUI3 Q9NUI4 Q9NUI5 Q9Y2E1 Q9Y3J6 SE6L1_HUMAN UNQ2542/PRO6094 uc003acb.1 uc003acb.2 uc003acb.3 uc003acb.4 uc003acb.5 May contribute to specialized endoplasmic reticulum functions in neurons (By similarity). Endoplasmic reticulum membrane; Single-pass type I membrane protein (By similarity). Event=Alternative splicing; Named isoforms=6; Comment=Experimental confirmation may be lacking for some isoforms; Name=4; IsoId=Q9BYH1-1; Sequence=Displayed; Name=1; IsoId=Q9BYH1-2; Sequence=VSP_003976, VSP_003977, VSP_003980; Name=2; IsoId=Q9BYH1-3; Sequence=VSP_003976, VSP_003979, VSP_003980; Name=3; IsoId=Q9BYH1-4; Sequence=VSP_003981, VSP_003978; Name=5; IsoId=Q9BYH1-5; Sequence=VSP_013022; Name=6; IsoId=Q9BYH1-6; Sequence=VSP_003979; Widely expressed, including adult and fetal brains and lungs. Not expressed in all lung cancer cell lines. Belongs to the SEZ6 family. Contains 3 CUB domains. Contains 5 Sushi (CCP/SCR) domains. Sequence=BAA76771.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; endoplasmic reticulum endoplasmic reticulum membrane adult locomotory behavior membrane integral component of membrane cerebellar Purkinje cell layer development neuronal cell body synapse maturation regulation of protein kinase C signaling uc003acb.1 uc003acb.2 uc003acb.3 uc003acb.4 uc003acb.5 
ENST00000248948.4 VPREB3 ENST00000248948.4 Homo sapiens V-set pre-B cell surrogate light chain 3 (VPREB3), mRNA. (from RefSeq NM_013378) B2R587 ENST00000248948.1 ENST00000248948.2 ENST00000248948.3 NM_013378 Q9UKI3 UNQ355/PRO619 VPRE3_HUMAN uc002zxt.1 uc002zxt.2 uc002zxt.3 uc002zxt.4 uc002zxt.5 The protein encoded by this gene is the human ortholog of the mouse VpreB3 (8HS20) protein, is thought to be involved in B-cell maturation, and may play a role in assembly of the pre-B cell receptor (pre-BCR). While the role of this protein in B-cell development has not yet been elucidated, studies with the chicken ortholog of this protein have found that when overexpressed, this protein localizes to the endoplasmic reticulum. The mouse ortholog of this protein has been shown to associate with membrane mu heavy chains early in the course of pre-B cell receptor biosynthesis. Expression of this gene has been observed in some lymphomas. [provided by RefSeq, Apr 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC020666.1, AY359000.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2149876, SAMEA2150385 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248948.4/ ENSP00000248948.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Associates with the Ig-mu chain to form a molecular complex that is expressed on the surface of pre-B-cells. Expressed in B-cell precursors. Expressed in fetal liver, bone marrow, spleen and lymph node. Belongs to the immunoglobulin superfamily. Contains 1 Ig-like (immunoglobulin-like) domain. immunoglobulin production extracellular region extracellular space endoplasmic reticulum immune response leukocyte migration uc002zxt.1 uc002zxt.2 uc002zxt.3 uc002zxt.4 uc002zxt.5 
ENST00000248958.5 SDF2L1 ENST00000248958.5 Homo sapiens stromal cell derived factor 2 like 1 (SDF2L1), mRNA. (from RefSeq NM_022044) A2RUD3 ENST00000248958.1 ENST00000248958.2 ENST00000248958.3 ENST00000248958.4 NM_022044 Q9BRI5 Q9HCN8 SDF2L_HUMAN UNQ1941/PRO4424 uc002zvf.1 uc002zvf.2 uc002zvf.3 uc002zvf.4 uc002zvf.5 Endoplasmic reticulum lumen (Potential). Ubiquitously expressed with high expression in testis, moderate expression in the pancreas, spleen, prostate, small intestine and colon. Very low expression is seen in brain and skeletal muscle. Contains 3 MIR domains. dolichyl-phosphate-mannose-protein mannosyltransferase activity endoplasmic reticulum endoplasmic reticulum lumen endoplasmic reticulum membrane membrane endoplasmic reticulum chaperone complex response to endoplasmic reticulum stress protein O-linked mannosylation regulation of apoptotic process chaperone binding ATPase binding misfolded protein binding cellular response to misfolded protein ER-associated misfolded protein catabolic process uc002zvf.1 uc002zvf.2 uc002zvf.3 uc002zvf.4 uc002zvf.5 
ENST00000248975.6 YWHAH ENST00000248975.6 Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta (YWHAH), mRNA. (from RefSeq NM_003405) 1433F_HUMAN ENST00000248975.1 ENST00000248975.2 ENST00000248975.3 ENST00000248975.4 ENST00000248975.5 NM_003405 Q04917 YWHA1 uc003alz.1 uc003alz.2 uc003alz.3 uc003alz.4 uc003alz.5 This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and bovine orthologs. This gene contains a 7 bp repeat sequence in its 5' UTR, and changes in the number of this repeat have been associated with early-onset schizophrenia and psychotic bipolar disorder. [provided by RefSeq, Jun 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.310288.1, SRR3476690.534567.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248975.6/ ENSP00000248975.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negatively regulates the kinase activity of PDPK1. Homodimer (By similarity). Interacts with many nuclear hormone receptors and cofactors including AR, ESR1, ESR2, MC2R, NR3C1, NRIP1, PPARBP and THRA. Interacts with ABL1 (phosphorylated form); the interaction retains it in the cytoplasm. Interacts with ARHGEF28 and CDK16 (By similarity). Weakly interacts with CDKN1B. Interacts with GAB2. Interacts with KCNK18 in a phosphorylation- dependent manner. Interacts with SAMSN1 (By similarity). Interacts with the 'Ser-241' phosphorylated form of PDPK1. O94921:CDK14; NbExp=3; IntAct=EBI-306940, EBI-1043945; O60565:GREM1; NbExp=5; IntAct=EBI-306940, EBI-944395; Q14678-2:KANK1; NbExp=3; IntAct=EBI-306940, EBI-6173812; Q7KZI7:MARK2; NbExp=6; IntAct=EBI-306940, EBI-516560; P27448:MARK3; NbExp=4; IntAct=EBI-306940, EBI-707595; Q96L34:MARK4; NbExp=6; IntAct=EBI-306940, EBI-302319; Q8TEW0:PARD3; NbExp=6; IntAct=EBI-306940, EBI-81968; Q9NPB6:PARD6A; NbExp=2; IntAct=EBI-306940, EBI-81876; Q9BYG5:PARD6B; NbExp=2; IntAct=EBI-306940, EBI-295391; Q9BYG4:PARD6G; NbExp=2; IntAct=EBI-306940, EBI-295417; P41743:PRKCI; NbExp=3; IntAct=EBI-306940, EBI-286199; P04049:RAF1; NbExp=2; IntAct=EBI-306940, EBI-365996; Expressed mainly in the brain and present in other tissues albeit at lower levels. Belongs to the 14-3-3 family. regulation of sodium ion transport actin binding insulin-like growth factor receptor binding protein binding cytoplasm mitochondrion cytosol plasma membrane glucocorticoid catabolic process intracellular protein transport intercalated disc sodium channel regulator activity enzyme binding protein domain specific binding substantia nigra development glucocorticoid receptor binding identical protein binding glucocorticoid receptor signaling pathway ion channel binding regulation of neuron differentiation positive regulation of transcription, DNA-templated protein heterodimerization activity regulation of synaptic plasticity negative regulation of dendrite morphogenesis membrane organization extracellular exosome membrane depolarization during action potential positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway regulation of sodium ion transmembrane transporter activity uc003alz.1 uc003alz.2 uc003alz.3 uc003alz.4 uc003alz.5 
ENST00000249014.5 CDC42EP1 ENST00000249014.5 Homo sapiens CDC42 effector protein 1 (CDC42EP1), mRNA. (from RefSeq NM_152243) A8K825 BORG5 BORG5_HUMAN CEP1 ENST00000249014.1 ENST00000249014.2 ENST00000249014.3 ENST00000249014.4 MSE55 NM_152243 Q00587 Q96GN1 uc003asz.1 uc003asz.2 uc003asz.3 uc003asz.4 uc003asz.5 uc003asz.6 CDC42 is a member of the Rho GTPase family that regulates multiple cellular activities, including actin polymerization. The protein encoded by this gene is a CDC42 binding protein that mediates actin cytoskeleton reorganization at the plasma membrane. This protein is secreted and is primarily found in bone marrow. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.394995.1, SRR3476690.446293.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249014.5/ ENSP00000249014.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Probably involved in the organization of the actin cytoskeleton. Induced membrane extensions in fibroblasts. Interacts with RHOQ and CDC42, in a GTP-dependent manner. P60953:CDC42; NbExp=3; IntAct=EBI-744130, EBI-81752; Endomembrane system; Peripheral membrane protein. Cytoplasm, cytoskeleton. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q00587-1; Sequence=Displayed; Name=2; IsoId=Q00587-2; Sequence=VSP_004325; Endothelial and bone marrow stromal cells. The CRIB domain mediates interaction with CDC42. Belongs to the BORG/CEP family. Contains 1 CRIB domain. protein binding cytoplasm cytoskeleton plasma membrane cell-cell adherens junction focal adhesion Rho protein signal transduction regulation of cell shape endomembrane system membrane GTP-Rho binding positive regulation of actin filament polymerization positive regulation of pseudopodium assembly cell-cell adhesion cadherin binding involved in cell-cell adhesion uc003asz.1 uc003asz.2 uc003asz.3 uc003asz.4 uc003asz.5 uc003asz.6 
ENST00000249016.5 MCHR1 ENST00000249016.5 Homo sapiens melanin concentrating hormone receptor 1 (MCHR1), mRNA. (from RefSeq NM_005297) B2RBX6 ENST00000249016.1 ENST00000249016.2 ENST00000249016.3 ENST00000249016.4 GPR24 MCHR1_HUMAN NM_005297 Q5R3J1 Q96S47 Q99705 Q9BV08 SLC1 uc003ayz.1 uc003ayz.2 uc003ayz.3 uc003ayz.4 uc003ayz.5 The protein encoded by this gene, a member of the G protein-coupled receptor family 1, is an integral plasma membrane protein which binds melanin-concentrating hormone. The encoded protein can inhibit cAMP accumulation and stimulate intracellular calcium flux, and is probably involved in the neuronal regulation of food consumption. Although structurally similar to somatostatin receptors, this protein does not seem to bind somatostatin. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF490537.2, BC021146.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for melanin-concentrating hormone, coupled to both G proteins that inhibit adenylyl cyclase and G proteins that activate phosphoinositide hydrolysis. Interacts with NCDN. Cell membrane; Multi-pass membrane protein. Highest level in brain, particularly in the frontal cortex and hypothalamus, lower levels in the liver and heart. Belongs to the G-protein coupled receptor 1 family. It is uncertain whether Met-1, Met-6 or Met-70 is the initiator. Sequence=AAC14587.1; Type=Erroneous gene model prediction; G-protein coupled receptor activity receptor binding plasma membrane integral component of plasma membrane cilium generation of precursor metabolites and energy signal transduction cell surface receptor signaling pathway G-protein coupled receptor signaling pathway adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration neuropeptide signaling pathway feeding behavior protein C-terminus binding neuropeptide receptor activity membrane integral component of membrane melanin-concentrating hormone receptor activity peptide binding hormone binding neuropeptide binding positive regulation of calcium ion transport ciliary membrane non-motile cilium uc003ayz.1 uc003ayz.2 uc003ayz.3 uc003ayz.4 uc003ayz.5 
ENST00000249041.3 GALR3 ENST00000249041.3 Homo sapiens galanin receptor 3 (GALR3), mRNA. (from RefSeq NM_003614) ENST00000249041.1 ENST00000249041.2 GALNR3 GALR3_HUMAN NM_003614 O60755 Q53YJ4 uc003aub.1 uc003aub.2 The neuropeptide galanin modulates a variety of physiologic processes including cognition/memory, sensory/pain processing, hormone secretion, and feeding behavior. The human galanin receptors are G protein-coupled receptors that functionally couple to their intracellular effector through distinct signaling pathways. GALR3 is found in many tissues and may be expressed as 1.4-, 2.4-, and 5-kb transcripts [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF073799.1, AY587582.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148874, SAMN04284274 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249041.3/ ENSP00000249041.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for the hormone galanin. Cell membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor 1 family. G-protein coupled receptor activity galanin receptor activity plasma membrane integral component of plasma membrane cilium signal transduction G-protein coupled receptor signaling pathway G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger negative regulation of adenylate cyclase activity neuropeptide signaling pathway chemical synaptic transmission learning or memory feeding behavior G-protein coupled peptide receptor activity membrane integral component of membrane peptide hormone binding positive regulation of transcription from RNA polymerase II promoter galanin-activated signaling pathway non-motile cilium uc003aub.1 uc003aub.2 
ENST00000249044.2 APOL5 ENST00000249044.2 Homo sapiens apolipoprotein L5 (APOL5), mRNA. (from RefSeq NM_030642) APOL5_HUMAN ENST00000249044.1 NM_030642 Q5TFL9 Q9BWW9 Q9UGW5 uc003aof.1 uc003aof.2 uc003aof.3 uc003aof.4 This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AY014878.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249044.2/ ENSP00000249044.2 RefSeq Select criteria :: based on longest protein ##RefSeq-Attributes-END## May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles. P00519:ABL1; NbExp=1; IntAct=EBI-1753592, EBI-375543; P46108:CRK; NbExp=1; IntAct=EBI-1753592, EBI-886; P06241:FYN; NbExp=1; IntAct=EBI-1753592, EBI-515315; P62993:GRB2; NbExp=1; IntAct=EBI-1753592, EBI-401755; P16333:NCK1; NbExp=1; IntAct=EBI-1753592, EBI-389883; P27986:PIK3R1; NbExp=1; IntAct=EBI-1753592, EBI-79464; P12931:SRC; NbExp=1; IntAct=EBI-1753592, EBI-621482; Cytoplasm (Probable). Low level of expression; detected in uterus, testis, skeletal muscle and stomach. Belongs to the apolipoprotein L family. cellular_component extracellular region cytoplasm lipid metabolic process lipid transport high-density lipoprotein particle binding lipid binding lipoprotein metabolic process uc003aof.1 uc003aof.2 uc003aof.3 uc003aof.4 
ENST00000249064.9 CCDC117 ENST00000249064.9 Homo sapiens coiled-coil domain containing 117 (CCDC117), transcript variant 1, mRNA. (from RefSeq NM_173510) A8K0F1 CC117_HUMAN ENST00000249064.1 ENST00000249064.2 ENST00000249064.3 ENST00000249064.4 ENST00000249064.5 ENST00000249064.6 ENST00000249064.7 ENST00000249064.8 NM_173510 Q6ICA7 Q8IWD4 Q8N278 uc003aeb.1 uc003aeb.2 uc003aeb.3 uc003aeb.4 uc003aeb.5 uc003aeb.6 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8IWD4-1; Sequence=Displayed; Name=2; IsoId=Q8IWD4-2; Sequence=VSP_021185; Note=No experimental confirmation available; protein binding uc003aeb.1 uc003aeb.2 uc003aeb.3 uc003aeb.4 uc003aeb.5 uc003aeb.6 
ENST00000249066.10 APOL2 ENST00000249066.10 Homo sapiens apolipoprotein L2 (APOL2), transcript variant beta, mRNA. (from RefSeq NM_145637) APOL2_HUMAN B0QYK7 ENST00000249066.1 ENST00000249066.2 ENST00000249066.3 ENST00000249066.4 ENST00000249066.5 ENST00000249066.6 ENST00000249066.7 ENST00000249066.8 ENST00000249066.9 NM_145637 O95915 Q59GW9 Q5TH96 Q969T6 Q9BQE5 Q9BT28 Q9UGT1 Q9UH10 uc003apa.1 uc003apa.2 uc003apa.3 uc003apa.4 This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles. Cytoplasm (Probable). Widely expressed; the highest levels are found in lung, thymus, pancreas, placenta, adult brain and prostate; also detected in spleen, liver, kidney, colon, small intestine, uterus, spinal cord, adrenal gland, salivary gland, trachea, mammary gland, skeletal muscle, testis and fetal brain and liver. Belongs to the apolipoprotein L family. Sequence=BAD92227.1; Type=Erroneous initiation; receptor binding extracellular region cytoplasm endoplasmic reticulum membrane lipid metabolic process lipid transport acute-phase response multicellular organism development high-density lipoprotein particle binding cholesterol metabolic process lipid binding membrane lipoprotein metabolic process maternal process involved in female pregnancy uc003apa.1 uc003apa.2 uc003apa.3 uc003apa.4 
ENST00000249071.11 RAC2 ENST00000249071.11 Homo sapiens Rac family small GTPase 2 (RAC2), mRNA. (from RefSeq NM_002872) ENST00000249071.1 ENST00000249071.10 ENST00000249071.2 ENST00000249071.3 ENST00000249071.4 ENST00000249071.5 ENST00000249071.6 ENST00000249071.7 ENST00000249071.8 ENST00000249071.9 NM_002872 P15153 Q9UDJ4 RAC2_HUMAN uc003arc.1 uc003arc.2 uc003arc.3 uc003arc.4 uc003arc.5 uc003arc.6 This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.42286.1, SRR3476690.25701.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2149876, SAMEA2150385 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249071.11/ ENSP00000249071.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Plasma membrane-associated small GTPase which cycles between an active GTP-bound and inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses, such as secretory processes, phagocytose of apoptotic cells and epithelial cell polarization. Augments the production of reactive oxygen species (ROS) by NADPH oxidase. Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP, GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity, and GDP dissociation inhibitors which inhibit the dissociation of the nucleotide from the GTPase. Interacts with DOCK2, which may activate it. Interacts with S100A8 and calprotectin (S100A8/9). Cytoplasm. Note=Membrane-associated when activated. Hematopoietic specific. Defects in RAC2 are the cause of neutrophil immunodeficiency syndrome (NEUID) [MIM:608203]. Belongs to the small GTPase superfamily. Rho family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/RAC2ID42021ch22q13.html"; Name=RAC2base; Note=RAC2 mutation db; URL="http://bioinf.uta.fi/RAC2base/"; nucleotide binding GTPase activity protein binding GTP binding nuclear envelope cytoplasm cytosol plasma membrane focal adhesion cell cortex chemotaxis actin filament organization establishment or maintenance of cell polarity signal transduction G-protein coupled receptor signaling pathway small GTPase mediated signal transduction Rho protein signal transduction motor neuron axon guidance positive regulation of cell proliferation regulation of cell shape regulation of hydrogen peroxide metabolic process positive regulation of lamellipodium assembly regulation of cell-substrate adhesion membrane Rac protein signal transduction protein kinase regulator activity protein kinase binding lamellipodium cell projection assembly actin cytoskeleton organization phagocytic vesicle membrane regulation of actin cytoskeleton organization regulation of T cell proliferation cell projection regulation of mast cell degranulation engulfment of apoptotic cell bone resorption cell redox homeostasis regulation of protein kinase activity regulation of small GTPase mediated signal transduction positive regulation of protein kinase B signaling regulation of respiratory burst regulation of mast cell chemotaxis extracellular exosome lymphocyte aggregation positive regulation of neutrophil chemotaxis regulation of neutrophil migration positive regulation of protein targeting to mitochondrion actin filament uc003arc.1 uc003arc.2 uc003arc.3 uc003arc.4 uc003arc.5 uc003arc.6 
ENST00000249075.4 LIF ENST00000249075.4 Homo sapiens LIF interleukin 6 family cytokine (LIF), transcript variant 1, mRNA. (from RefSeq NM_002309) B2RCW7 ENST00000249075.1 ENST00000249075.2 ENST00000249075.3 HILDA LIF_HUMAN NM_002309 P15018 Q52LZ2 uc003agz.1 uc003agz.2 uc003agz.3 uc003agz.4 The protein encoded by this gene is a pleiotropic cytokine with roles in several different systems. It is involved in the induction of hematopoietic differentiation in normal and myeloid leukemia cells, induction of neuronal cell differentiation, regulator of mesenchymal to epithelial conversion during kidney development, and may also have a role in immune tolerance at the maternal-fetal interface. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]. LIF has the capacity to induce terminal differentiation in leukemic cells. Its activities include the induction of hematopoietic differentiation in normal and myeloid leukemia cells, the induction of neuronal cell differentiation, and the stimulation of acute-phase protein synthesis in hepatocytes. Secreted. In phase II clinical trial. The drug is being developed by Amrad to assist embryo implantation in women who have failed to become pregnant despite assisted reproductive technologies (ART). Belongs to the LIF/OSM family. Name=Wikipedia; Note=Leukemia inhibitory factor entry; URL="http://en.wikipedia.org/wiki/Leukemia_inhibitory_factor"; blood vessel remodeling receptor binding cytokine activity leukemia inhibitory factor receptor binding protein binding extracellular region extracellular space cytosol immune response tyrosine phosphorylation of STAT protein multicellular organism development embryo implantation growth factor activity positive regulation of cell proliferation negative regulation of cell proliferation positive regulation of gene expression cytokine-mediated signaling pathway stem cell population maintenance lung development positive regulation of peptidyl-serine phosphorylation positive regulation of peptidyl-serine phosphorylation of STAT protein positive regulation of tyrosine phosphorylation of STAT protein positive regulation of MAPK cascade regulation of cell differentiation positive regulation of macrophage differentiation negative regulation of meiotic nuclear division positive regulation of transcription from RNA polymerase II promoter decidualization negative regulation of hormone secretion lung alveolus development muscle organ morphogenesis neuron development positive regulation of astrocyte differentiation leukemia inhibitory factor signaling pathway stem cell differentiation positive regulation of peptidyl-tyrosine phosphorylation maternal process involved in female pregnancy lung vasculature development lung lobe morphogenesis trophoblast giant cell differentiation spongiotrophoblast differentiation negative regulation of ERK1 and ERK2 cascade positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis regulation of metanephric nephron tubule epithelial cell differentiation positive regulation of protein localization to nucleus positive regulation of histone H3-K27 acetylation regulation of RNA polymerase II regulatory region sequence-specific DNA binding uc003agz.1 uc003agz.2 uc003agz.3 uc003agz.4 
ENST00000249269.9 PMPCB ENST00000249269.9 Homo sapiens peptidase, mitochondrial processing subunit beta (PMPCB), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_004279) ENST00000249269.1 ENST00000249269.2 ENST00000249269.3 ENST00000249269.4 ENST00000249269.5 ENST00000249269.6 ENST00000249269.7 ENST00000249269.8 MPPB MPPB_HUMAN NM_004279 O60416 O75439 Q96FV4 uc003vbl.1 uc003vbl.2 uc003vbl.3 uc003vbl.4 uc003vbl.5 This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor proteins newly imported into the mitochondria, though it only functions as part of a heterodimeric complex. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1803615.164164.1, SRR1803615.112289.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000249269.9/ ENSP00000249269.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Cleaves presequences (transit peptides) from mitochondrial protein precursors (By similarity). Release of N-terminal transit peptides from precursor proteins imported into the mitochondrion, typically with Arg in position P2. Binds 1 zinc ion per subunit (By similarity). Heterodimer of alpha and beta subunits (By similarity). Mitochondrion matrix (By similarity). Belongs to the peptidase M16 family. catalytic activity endopeptidase activity metalloendopeptidase activity mitochondrion mitochondrial inner membrane mitochondrial matrix proteolysis protein processing involved in protein targeting to mitochondrion mitochondrial calcium ion transport peptidase activity metallopeptidase activity hydrolase activity mitochondrial processing peptidase complex metal ion binding uc003vbl.1 uc003vbl.2 uc003vbl.3 uc003vbl.4 uc003vbl.5 
ENST00000249284.3 TAS2R16 ENST00000249284.3 Homo sapiens taste 2 receptor member 16 (TAS2R16), mRNA. (from RefSeq NM_016945) A4D0X2 ENST00000249284.1 ENST00000249284.2 NM_016945 Q502V3 Q549U8 Q645W1 Q9NYV7 T2R16_HUMAN uc003vkl.1 uc003vkl.2 This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily. These family members are specifically expressed by taste receptor cells of the tongue and palate epithelia. Each of these apparently intronless genes encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC095524.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249284.3/ ENSP00000249284.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. Membrane; Multi-pass membrane protein. Expressed in a subset of gustducin-positive taste receptor cells of the tongue. The Lys-172 polymorphism in TAS2R16 is associated with genetic susceptibility to alcoholism [MIM:103780]. Several bitter taste receptors are expressed in a single taste receptor cell. Confers bitter perception of salicin to non-taster mice. Belongs to the G-protein coupled receptor T2R family. detection of chemical stimulus involved in sensory perception of bitter taste G-protein coupled receptor activity protein binding endoplasmic reticulum trans-Golgi network plasma membrane signal transduction G-protein coupled receptor signaling pathway external side of plasma membrane membrane integral component of membrane bitter taste receptor activity response to stimulus sensory perception of taste uc003vkl.1 uc003vkl.2 
ENST00000249289.5 ATP6V1F ENST00000249289.5 Homo sapiens ATPase H+ transporting V1 subunit F (ATP6V1F), transcript variant 1, mRNA. (from RefSeq NM_004231) ATP6S14 ENST00000249289.1 ENST00000249289.2 ENST00000249289.3 ENST00000249289.4 NM_004231 Q16864 Q6IBA8 VATF VATF_HUMAN uc003voc.1 uc003voc.2 uc003voc.3 uc003voc.4 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is the V1 domain F subunit protein. [provided by RefSeq, Jul 2008]. Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components: a, c, c', c'' and d). Belongs to the V-ATPase F subunit family. protein binding cytosol ion transport insulin receptor signaling pathway hydrogen ion transmembrane transporter activity membrane proton-transporting two-sector ATPase complex vacuolar proton-transporting V-type ATPase complex ATPase activity proton-transporting V-type ATPase, V1 domain transferrin transport ion transmembrane transport ATPase coupled ion transmembrane transporter activity proton-transporting ATPase activity, rotational mechanism extracellular exosome phagosome acidification hydrogen ion transmembrane transport uc003voc.1 uc003voc.2 uc003voc.3 uc003voc.4 
ENST00000249299.7 LSM8 ENST00000249299.7 Homo sapiens LSM8 homolog, U6 small nuclear RNA associated (LSM8), mRNA. (from RefSeq NM_016200) ENST00000249299.1 ENST00000249299.2 ENST00000249299.3 ENST00000249299.4 ENST00000249299.5 ENST00000249299.6 NAA38 NAA38_HUMAN NM_016200 O95777 uc003vjg.1 uc003vjg.2 uc003vjg.3 uc003vjg.4 uc003vjg.5 This gene encodes a member of the like-Sm family of proteins. The encoded protein consists of a closed barrel shape, made up of five anti-parallel beta strands and an alpha helix. This protein partners with six paralogs to form a heteroheptameric ring which transiently binds U6 small nuclear RNAs and is involved in the general maturation of RNA in the nucleus. [provided by RefSeq, Jan 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DA247272.1, SRR1803617.184135.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249299.7/ ENSP00000249299.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds specifically to the 3'-terminal U-tract of U6 snRNA. LSm subunits form a heteromer with a doughnut shape. Q9Y333:LSM2; NbExp=5; IntAct=EBI-347779, EBI-347416; P62310:LSM3; NbExp=5; IntAct=EBI-347779, EBI-348239; Q9Y4Z0:LSM4; NbExp=4; IntAct=EBI-347779, EBI-372521; Nucleus (Potential). Belongs to the snRNP Sm proteins family. mRNA splicing, via spliceosome RNA binding protein binding nucleus nucleoplasm spliceosomal complex U6 snRNP mRNA processing RNA splicing RNA metabolic process U6 snRNA binding U4/U6 x U5 tri-snRNP complex U2-type precatalytic spliceosome uc003vjg.1 uc003vjg.2 uc003vjg.3 uc003vjg.4 uc003vjg.5 
ENST00000249330.3 VGF ENST00000249330.3 Homo sapiens VGF nerve growth factor inducible (VGF), mRNA. (from RefSeq NM_003378) ENST00000249330.1 ENST00000249330.2 NM_003378 O15240 Q9UDW8 VGF_HUMAN uc003uxx.1 uc003uxx.2 uc003uxx.3 uc003uxx.4 uc003uxx.5 uc003uxx.6 This gene is specifically expressed in a subpopulation of neuroendocrine cells, and is upregulated by nerve growth factor. The structural organization of this gene is similar to that of the rat gene, and both the translated and the untranslated regions show a high degree of sequence similarity to the rat gene. The encoded secretory protein also shares similarities with the secretogranin/chromogranin family, however, its exact function is not known. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK225839.1, BC036537.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2157437 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249330.3/ ENSP00000249330.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## May be involved in the regulation of cell-cell interactions or in synatogenesis during the maturation of the nervous system (By similarity). NERP peptides are involved in the control of body fluid homeostasis by regulating vasopressin release. Secreted. Cytoplasmic vesicle, secretory vesicle. Note=Stored in secretory vesicles and then secreted, NERP peptides colocalize with vasopressin in the storage granules of hypothalamus. Central and peripheral nervous systems, synthesized exclusively in neuronal and neuroendocrine cells. Multiple peptides are derived from VGF, with activities in synaptic plasticity, antidepression, penile erection, autonomic activation, and increases in energy expenditure (By similarity). ovarian follicle development response to dietary excess molecular_function neuropeptide hormone activity extracellular region extracellular space endoplasmic reticulum lumen Golgi apparatus generation of precursor metabolites and energy signal transduction growth factor activity response to cold sexual reproduction insulin secretion transport vesicle cytoplasmic vesicle response to insulin glucose homeostasis defense response to bacterium intracellular membrane-bounded organelle post-translational protein modification cellular protein metabolic process response to cAMP uc003uxx.1 uc003uxx.2 uc003uxx.3 uc003uxx.4 uc003uxx.5 uc003uxx.6 
ENST00000249344.7 STRIP2 ENST00000249344.7 Homo sapiens striatin interacting protein 2 (STRIP2), transcript variant 1, mRNA. (from RefSeq NM_020704) ENST00000249344.1 ENST00000249344.2 ENST00000249344.3 ENST00000249344.4 ENST00000249344.5 ENST00000249344.6 FA40B_HUMAN FAM40B KIAA1170 NM_020704 Q8WUZ4 Q9ULQ0 uc011koy.1 uc011koy.2 uc011koy.3 uc011koy.4 Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. Cytoplasm. Note=Enriched in lamellipodia. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9ULQ0-1; Sequence=Displayed; Name=2; IsoId=Q9ULQ0-2; Sequence=VSP_014867, VSP_014868; Belongs to the FAM40 family. Sequence=BAA86484.1; Type=Erroneous initiation; molecular_function cytoplasm cytosol cytoskeleton organization regulation of cell shape cell migration uc011koy.1 uc011koy.2 uc011koy.3 uc011koy.4 
ENST00000249356.4 DNAJB9 ENST00000249356.4 Homo sapiens DnaJ heat shock protein family (Hsp40) member B9 (DNAJB9), mRNA. (from RefSeq NM_012328) DNJB9_HUMAN ENST00000249356.1 ENST00000249356.2 ENST00000249356.3 MDG1 NM_012328 Q9UBS3 UNQ743/PRO1471 uc003vfn.1 uc003vfn.2 uc003vfn.3 uc003vfn.4 uc003vfn.5 This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. This gene is a member of the type 2 subgroup of DnaJ proteins. The encoded protein is localized to the endoplasmic reticulum. This protein is induced by endoplasmic reticulum stress and plays a role in protecting stressed cells from apoptosis. [provided by RefSeq, Dec 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.178169.1, SRR3476690.1086571.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249356.4/ ENSP00000249356.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Acts as a co-chaperone with an Hsp70 protein (By similarity). Cytoplasm (By similarity). Nucleus (By similarity). Note=Stress induces its translocation to the nucleus (By similarity). Contains 1 J domain. immunoglobulin production protein binding nucleolus cytoplasm endoplasmic reticulum endoplasmic reticulum lumen endoplasmic reticulum membrane response to unfolded protein B cell differentiation ER-associated ubiquitin-dependent protein catabolic process Hsp70 protein binding response to endoplasmic reticulum stress IRE1-mediated unfolded protein response chaperone binding misfolded protein binding extracellular exosome negative regulation of IRE1-mediated unfolded protein response uc003vfn.1 uc003vfn.2 uc003vfn.3 uc003vfn.4 uc003vfn.5 
ENST00000249363.4 LRRC4 ENST00000249363.4 Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA. (from RefSeq NM_022143) A4D0Y9 BAG ENST00000249363.1 ENST00000249363.2 ENST00000249363.3 LRRC4_HUMAN NAG14 NM_022143 Q14DU9 Q6ZMI8 Q96A85 Q9HBW1 UNQ554/PRO1111 uc003vmk.1 uc003vmk.2 uc003vmk.3 uc003vmk.4 uc003vmk.5 This gene is significantly downregulated in primary brain tumors. The exact function of the protein encoded by this gene is unknown. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF196976.4, BC111561.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249363.4/ ENSP00000249363.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Synaptic adhesion protein. Regulates the formation of exitatory synapses through the recruitment of pre-and-postsynaptic proteins. Organize the lamina/pathway-specific differentiation of dendrites. Plays a important role for auditory synaptic responses. Involved in the suppression of glioma (By similarity). Interacts with NTNG2 (By similarity). Interacts with DLG4 (By similarity). Forms a complex with DLG4 and with NMDA receptors. Membrane; Single-pass type I membrane protein. Cell junction, synapse, postsynaptic cell membrane (By similarity). Note=LRRC4 and DLG4 are interdependent for synaptic localization (By similarity). Specifically expressed in brain. The last 4 C-terminal residues bind to the first 2 PDZ domains of DLG4 (By similarity). N-glycosylated (By similarity). Contains 1 Ig-like (immunoglobulin-like) domain. Contains 9 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. Contains 1 LRRNT domain. protein binding plasma membrane membrane integral component of membrane cell junction dendritic spine neuron spine synapse postsynaptic membrane modulation of synaptic transmission synapse organization excitatory synapse postsynaptic density protein 95 clustering glutamatergic synapse integral component of postsynaptic density membrane synaptic membrane adhesion excitatory synapse assembly uc003vmk.1 uc003vmk.2 uc003vmk.3 uc003vmk.4 uc003vmk.5 
ENST00000249373.8 SMO ENST00000249373.8 Homo sapiens smoothened, frizzled class receptor (SMO), mRNA. (from RefSeq NM_005631) ENST00000249373.1 ENST00000249373.2 ENST00000249373.3 ENST00000249373.4 ENST00000249373.5 ENST00000249373.6 ENST00000249373.7 NM_005631 Q99835 SMOH SMO_HUMAN uc003vor.1 uc003vor.2 uc003vor.3 uc003vor.4 uc003vor.5 The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a receptor for hedgehog proteins. The encoded protein tranduces signals to other proteins after activation by a hedgehog protein/patched protein complex. [provided by RefSeq, Jul 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC009989.2, U84401.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249373.8/ ENSP00000249373.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## G protein-coupled receptor that probably associates with the patched protein (PTCH) to transduce the hedgehog's proteins signal. Binding of sonic hedgehog (SHH) to its receptor patched is thought to prevent normal inhibition by patched of smoothened (SMO). Required for the accumulation of KIF7 and GLI3 in the cilia. Interacts with ARRB2 (By similarity). Interacts with KIF7. Membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor Fz/Smo family. Contains 1 FZ (frizzled) domain. negative regulation of transcription from RNA polymerase II promoter ossification vasculogenesis osteoblast differentiation in utero embryonic development cell fate specification neural crest cell migration heart looping positive regulation of neuroblast proliferation positive regulation of mesenchymal cell proliferation heart morphogenesis determination of left/right asymmetry in lateral mesoderm type B pancreatic cell development transmembrane signaling receptor activity G-protein coupled receptor activity patched binding protein binding cytoplasm plasma membrane cilium signal transduction cell surface receptor signaling pathway G-protein coupled receptor signaling pathway smoothened signaling pathway positive regulation of hh target transcription factor activity multicellular organism development determination of left/right symmetry ventral midline determination pattern specification process central nervous system development midgut development drug binding positive regulation of cell proliferation anterior/posterior pattern specification dorsal/ventral pattern formation regulation of gene expression positive regulation of gene expression negative regulation of gene expression membrane integral component of membrane dentate gyrus development cerebellar cortex morphogenesis thalamus development dorsal/ventral neural tube patterning smoothened signaling pathway involved in ventral spinal cord patterning smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation central nervous system neuron differentiation cerebral cortex development positive regulation of cell migration dendrite endocytic vesicle membrane negative regulation of epithelial cell differentiation hair follicle morphogenesis protein localization to nucleus multicellular organism growth positive regulation of multicellular organism growth positive regulation of protein import into nucleus odontogenesis of dentin-containing tooth cell projection negative regulation of apoptotic process intracellular membrane-bounded organelle negative regulation of DNA binding positive regulation of smoothened signaling pathway negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter positive regulation of organ growth astrocyte activation cell development digestive tract development embryonic organ development developmental growth skeletal muscle fiber development forebrain morphogenesis homeostasis of number of cells within a tissue positive regulation of epithelial cell proliferation protein stabilization myoblast migration negative regulation of hair follicle development ciliary membrane detection of cell density by contact stimulus involved in contact inhibition atrial septum morphogenesis mammary gland epithelial cell differentiation epithelial-mesenchymal cell signaling somite development pancreas morphogenesis extracellular exosome left/right axis specification cellular response to cholesterol commissural neuron axon guidance renal system development mesenchymal to epithelial transition involved in metanephric renal vesicle formation positive regulation of branching involved in ureteric bud morphogenesis ciliary tip regulation of stem cell population maintenance regulation of heart morphogenesis Golgi apparatus caveola uc003vor.1 uc003vor.2 uc003vor.3 uc003vor.4 uc003vor.5 
ENST00000249389.3 OPN1SW ENST00000249389.3 Homo sapiens opsin 1, short wave sensitive (OPN1SW), mRNA. (from RefSeq NM_001385125) BCP ENST00000249389.1 ENST00000249389.2 NM_001385125 OPSB_HUMAN P03999 Q13877 uc003vnt.1 uc003vnt.2 uc003vnt.3 uc003vnt.4 uc003vnt.5 uc003vnt.6 This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DQ822478.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: upstream AUG and CDS extension is not conserved RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal. Absorption: Abs(max)=420 nm; Membrane; Multi-pass membrane protein. The three color pigments are found in the cone photoreceptor cells. Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region. Defects in OPN1SW are the cause of tritan color blindness (CBT) [MIM:190900]. Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. Name=Mutations of the color pigment genes; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/cppmut.htm"; retinoid metabolic process photoreceptor outer segment photoreceptor inner segment G-protein coupled receptor activity integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway visual perception phototransduction G-protein coupled photoreceptor activity detection of visible light photoreceptor activity membrane integral component of membrane protein-chromophore linkage signaling receptor activity cell projection response to stimulus cellular response to light stimulus photoreceptor disc membrane uc003vnt.1 uc003vnt.2 uc003vnt.3 uc003vnt.4 uc003vnt.5 uc003vnt.6 
ENST00000249396.12 SIRT2 ENST00000249396.12 Homo sapiens sirtuin 2 (SIRT2), transcript variant 1, mRNA. (from RefSeq NM_012237) A8K3V1 B2RB45 ENST00000249396.1 ENST00000249396.10 ENST00000249396.11 ENST00000249396.2 ENST00000249396.3 ENST00000249396.4 ENST00000249396.5 ENST00000249396.6 ENST00000249396.7 ENST00000249396.8 ENST00000249396.9 NM_012237 O95889 Q8IXJ6 Q924Y7 Q9P0G8 Q9UNT0 Q9Y6E9 SIR2L SIR2L2 SIR2_HUMAN uc002ojt.1 uc002ojt.2 uc002ojt.3 uc002ojt.4 This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Several transcript variants are resulted from alternative splicing of this gene. [provided by RefSeq, Jul 2010]. NAD-dependent protein deacetylase, which deacetylates internal lysines on histone and non-histone proteins. Deacetylates 'Lys-40' of alpha-tubulin. Involved in the control of mitotic exit in the cell cycle, probably via its role in the regulation of cytoskeleton. Deacetylates PCK1, opposing proteasomal degradation. Deacetylates 'Lys-310' of RELA. NAD(+) + an acetylprotein = nicotinamide + O- acetyl-ADP-ribose + a protein. Binds 1 zinc ion per subunit. Inhibited by Sirtinol, A3 and M15 small molecules. Inhibited by nicotinamide. Interacts with HDAC6, suggesting that these proteins belong to a large complex that deacetylate the cytoskeleton. Q12834:CDC20; NbExp=2; IntAct=EBI-5240785, EBI-367462; Q9UM11:FZR1; NbExp=2; IntAct=EBI-5240785, EBI-724997; Q92831:KAT2B; NbExp=4; IntAct=EBI-477232, EBI-477430; Cytoplasm, cytoskeleton. Note=Colocalizes with microtubules. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q8IXJ6-1; Sequence=Displayed; Name=2; IsoId=Q8IXJ6-2; Sequence=VSP_008724; Name=3; IsoId=Q8IXJ6-3; Sequence=VSP_008726; Note=No experimental confirmation available; Name=4; IsoId=Q8IXJ6-4; Sequence=VSP_008727, VSP_008728; Note=No experimental confirmation available; Widely expressed. Highly expressed in heart, brain and skeletal muscle, while it is weakly expressed in placenta and lung. Down-regulated in many gliomas suggesting that it may act as a tumor suppressor gene in human gliomas possibly through the regulation of microtubule network. Peaks during mitosis. After mitosis, it is probably degraded by the 26S proteasome. Phosphorylated at the G2/M transition of the cell cycle. Has some ability to deacetylate histones in vitro, but seeing its subcellular location, this is unlikely in vivo. Belongs to the sirtuin family. Class I subfamily. Contains 1 deacetylase sirtuin-type domain. Sequence=AAD45971.1; Type=Erroneous initiation; Sequence=AAF67015.1; Type=Frameshift; Positions=Several; negative regulation of transcription from RNA polymerase II promoter chromatin silencing at rDNA chromosome, telomeric region immune system process chromatin binding NAD+ ADP-ribosyltransferase activity histone deacetylase activity protein binding nucleus chromatin silencing complex chromosome nuclear heterochromatin nucleolus cytoplasm mitochondrion centrosome centriole microtubule organizing center spindle cytosol cytoskeleton microtubule plasma membrane chromatin silencing chromatin silencing at telomere protein ADP-ribosylation protein deacetylation autophagy cell cycle regulation of exit from mitosis nervous system development transcription factor binding zinc ion binding negative regulation of cell proliferation negative regulation of autophagy negative regulation of peptidyl-threonine phosphorylation phosphatidylinositol 3-kinase signaling membrane histone deacetylation hydrolase activity NAD-dependent histone deacetylase activity substantia nigra development myelination in peripheral nervous system cell differentiation growth cone midbody regulation of myelination positive regulation of proteasomal ubiquitin-dependent protein catabolic process paranodal junction paranode region of axon protein deacetylase activity cellular response to oxidative stress NAD-dependent protein deacetylase activity peptidyl-lysine deacetylation histone acetyltransferase binding cellular response to hepatocyte growth factor stimulus negative regulation of protein catabolic process regulation of phosphorylation histone deacetylase binding tubulin deacetylase activity cell projection ubiquitin binding proteasome-mediated ubiquitin-dependent protein catabolic process perikaryon myelin sheath lateral loop Schmidt-Lanterman incisure positive regulation of DNA binding protein kinase B signaling juxtaparanode region of axon cellular lipid catabolic process innate immune response regulation of fat cell differentiation negative regulation of fat cell differentiation positive regulation of meiotic nuclear division negative regulation of striated muscle tissue development negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding NAD-dependent histone deacetylase activity (H4-K16 specific) hepatocyte growth factor receptor signaling pathway perinuclear region of cytoplasm cell division meiotic cell cycle regulation of cell cycle response to redox state positive regulation of cell division positive regulation of attachment of spindle microtubules to kinetochore negative regulation of transcription from RNA polymerase II promoter in response to hypoxia cellular response to caloric restriction NAD+ binding negative regulation of oligodendrocyte progenitor proliferation histone H3 deacetylation histone H4 deacetylation cellular response to molecule of bacterial origin cellular response to hypoxia cellular response to epinephrine stimulus mitotic spindle meiotic spindle tubulin deacetylation glial cell projection positive regulation of execution phase of apoptosis positive regulation of oocyte maturation negative regulation of NLRP3 inflammasome complex assembly negative regulation of defense response to bacterium negative regulation of reactive oxygen species metabolic process positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia uc002ojt.1 uc002ojt.2 uc002ojt.3 uc002ojt.4 
ENST00000249442.11 MTX2 ENST00000249442.11 Homo sapiens metaxin 2 (MTX2), transcript variant 1, mRNA. (from RefSeq NM_006554) A8JZZ4 ENST00000249442.1 ENST00000249442.10 ENST00000249442.2 ENST00000249442.3 ENST00000249442.4 ENST00000249442.5 ENST00000249442.6 ENST00000249442.7 ENST00000249442.8 ENST00000249442.9 MTX2_HUMAN NM_006554 O75431 Q53S50 Q53SQ2 Q5M7Z6 uc002ukx.1 uc002ukx.2 uc002ukx.3 uc002ukx.4 uc002ukx.5 The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, it is thought that the encoded protein is peripherally associated with the cytosolic face of the outer mitochondrial membrane, and that it is involved in the import of proteins into the mitochondrion. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jun 2009]. Involved in transport of proteins into the mitochondrion. Interacts with MTX1/metaxin-1. Associates with the MINOS/MitOS complex, that includes IMMT, HSPA9 and CHCHD3. Mitochondrion outer membrane. Belongs to the metaxin family. mitochondrial sorting and assembly machinery complex protein binding nucleolus mitochondrion mitochondrial outer membrane mitochondrial transport protein transport membrane uc002ukx.1 uc002ukx.2 uc002ukx.3 uc002ukx.4 uc002ukx.5 
ENST00000249499.8 HOXD9 ENST00000249499.8 Homo sapiens homeobox D9 (HOXD9), mRNA. (from RefSeq NM_014213) ENST00000249499.1 ENST00000249499.2 ENST00000249499.3 ENST00000249499.4 ENST00000249499.5 ENST00000249499.6 ENST00000249499.7 HOX4C HXD9_HUMAN NM_014213 P28356 Q86ST1 uc010zex.1 uc010zex.2 uc010zex.3 uc010zex.4 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC044855.1, X59372.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249499.8/ ENSP00000249499.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Expressed in the developing limb buds. Belongs to the Abd-B homeobox family. Contains 1 homeobox DNA-binding domain. It is uncertain whether Met-1 or Met-11 is the initiator. Sequence=AAH44855.2; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAA42016.1; Type=Erroneous initiation; Note=Translation N-terminally extended; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleolus transcription, DNA-templated regulation of transcription, DNA-templated multicellular organism development single fertilization skeletal muscle tissue development adult locomotory behavior anterior/posterior pattern specification proximal/distal pattern formation regulation of gene expression mammary gland development embryonic forelimb morphogenesis forelimb morphogenesis hindlimb morphogenesis sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter embryonic skeletal system morphogenesis embryonic skeletal system development peripheral nervous system neuron development uc010zex.1 uc010zex.2 uc010zex.3 uc010zex.4 
ENST00000249501.5 HOXD10 ENST00000249501.5 Homo sapiens homeobox D10 (HOXD10), mRNA. (from RefSeq NM_002148) ENST00000249501.1 ENST00000249501.2 ENST00000249501.3 ENST00000249501.4 HOX4D HOX4E HXD10_HUMAN NM_002148 P28358 Q6NT10 uc002ukj.1 uc002ukj.2 uc002ukj.3 uc002ukj.4 uc002ukj.5 This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in this gene have been associated with Wilm's tumor and congenital vertical talus (also known as 'rocker-bottom foot' deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC069619.1, X59373.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249501.5/ ENSP00000249501.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Strongly expressed in the adult male and female urogenital tracts. Expressed in the developing limb buds. Defects in HOXD10 are a cause of congenital vertical talus (CVT) [MIM:192950]; also known as rocker-bottom foot deformity or congenital convex pes valgus. CVT is a dislocation of the talonavicular joint, with rigid dorsal dislocation of the navicular over the neck of the talus. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity. Belongs to the Abd-B homeobox family. Contains 1 homeobox DNA-binding domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HOXD10"; nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding skeletal system development DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm cytosol regulation of transcription, DNA-templated multicellular organism development single fertilization skeletal muscle tissue development adult locomotory behavior anterior/posterior pattern specification proximal/distal pattern formation regulation of gene expression spinal cord motor neuron cell fate specification embryonic limb morphogenesis forelimb morphogenesis hindlimb morphogenesis cytoplasmic ribonucleoprotein granule sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter embryonic skeletal system morphogenesis peripheral nervous system neuron development neuromuscular process uc002ukj.1 uc002ukj.2 uc002ukj.3 uc002ukj.4 uc002ukj.5 
ENST00000249504.7 HOXD11 ENST00000249504.7 Homo sapiens homeobox D11 (HOXD11), mRNA. (from RefSeq NM_021192) A6NIS4 ENST00000249504.1 ENST00000249504.2 ENST00000249504.3 ENST00000249504.4 ENST00000249504.5 ENST00000249504.6 HOX4F HXD11_HUMAN NM_021192 P31277 Q9NS02 uc002uki.1 uc002uki.2 uc002uki.3 uc002uki.4 uc002uki.5 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The product of the mouse Hoxd11 gene plays a role in forelimb morphogenesis. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AI139039.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249504.7/ ENSP00000249504.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Belongs to the Abd-B homeobox family. Contains 1 homeobox DNA-binding domain. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding branching involved in ureteric bud morphogenesis DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development dorsal/ventral pattern formation sequence-specific DNA binding uc002uki.1 uc002uki.2 uc002uki.3 uc002uki.4 uc002uki.5 
ENST00000249636.11 PIAS1 ENST00000249636.11 Homo sapiens protein inhibitor of activated STAT 1 (PIAS1), transcript variant 2, mRNA. (from RefSeq NM_016166) B2RB67 DDXBP1 ENST00000249636.1 ENST00000249636.10 ENST00000249636.2 ENST00000249636.3 ENST00000249636.4 ENST00000249636.5 ENST00000249636.6 ENST00000249636.7 ENST00000249636.8 ENST00000249636.9 NM_016166 O75925 PIAS1_HUMAN Q147X4 Q99751 Q9UN02 uc002aqz.1 uc002aqz.2 uc002aqz.3 uc002aqz.4 uc002aqz.5 This gene encodes a member of the protein inhibitor of activated STAT (PIAS) family. PIAS proteins function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. This protein plays a central role as a transcriptional coregulator of numerous cellular pathways includign the STAT1 and nuclear factor kappaB pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulation in various cellular pathways, including the STAT pathway, the p53 pathway and the steroid hormone signaling pathway. In vitro, binds A/T-rich DNA. The effects of this transcriptional coregulation, transactivation or silencing, may vary depending upon the biological context. Together with PRMT1, may repress STAT1 transcriptional activity, in the late phase of interferon gamma (IFN-gamma) signaling. Protein modification; protein sumoylation. Interacts with NCOA2 and AR. Interacts with NR2C1; the interaction promotes its sumoylation (By similarity). Interacts with DDX21, CSRP2, AXIN1, JUN, UBE2I, SUMO1, SATB2, PLAG1, TP53 and STAT1 (dimer), following IFNA1-stimulation. Interacts with SP3 (preferentially when SUMO-modified). Interacts with KLF8; the interaction results in SUMO ligation and repression of KLF8 transcriptional activity and of its cell cycle progression into G(1) phase. Interacts with STAT1. Interacts with CHUK/IKKA; this interaction induces PIAS1 phosphorylation. Interacts with PTK2/FAK1; the interaction promotes its sumoylation. Interacts with DDX5. Q9UKL3:CASP8AP2; NbExp=4; IntAct=EBI-629434, EBI-2339650; P04637:TP53; NbExp=3; IntAct=EBI-629434, EBI-366083; Nucleus speckle. Note=Interaction with CSRP2 may induce a partial redistribution along the cytoskeleton. Expressed in numerous tissues with highest level in testis. The LXXLL motif is a transcriptional coregulator signature. The SP-RING-type domain is required for promoting EKLF sumoylation (By similarity). Sumoylated. Dimethylated by PRMT1 at Arg-303 in the late phase of interferon gamma (IFN-gamma) signaling, leading to preferential interaction with STAT1 and thus resulting in release of STAT1 from its target gene. Belongs to the PIAS family. Contains 1 PINIT domain. Contains 1 SAP domain. Contains 1 SP-RING-type zinc finger. G1/S transition of mitotic cell cycle negative regulation of transcription from RNA polymerase II promoter RNA polymerase II transcription factor binding DNA binding transcription cofactor activity transcription coactivator activity transcription corepressor activity protein binding nucleus nucleoplasm regulation of transcription from RNA polymerase II promoter JAK-STAT cascade spermatogenesis protein C-terminus binding transcription factor binding zinc ion binding visual learning PML body nuclear speck transferase activity protein sumoylation SUMO transferase activity enzyme binding protein domain specific binding androgen receptor signaling pathway ubiquitin protein ligase binding positive regulation of proteasomal ubiquitin-dependent protein catabolic process positive regulation of protein sumoylation regulation of cell proliferation negative regulation of apoptotic process fat cell differentiation positive regulation of transcription, DNA-templated metal ion binding androgen receptor binding positive regulation of smooth muscle cell differentiation regulation of interferon-gamma-mediated signaling pathway SUMO ligase activity protein-DNA complex assembly uc002aqz.1 uc002aqz.2 uc002aqz.3 uc002aqz.4 uc002aqz.5 
ENST00000249647.8 SNAP23 ENST00000249647.8 Homo sapiens synaptosome associated protein 23 (SNAP23), transcript variant 1, mRNA. (from RefSeq NM_003825) ENST00000249647.1 ENST00000249647.2 ENST00000249647.3 ENST00000249647.4 ENST00000249647.5 ENST00000249647.6 ENST00000249647.7 NM_003825 O00161 O00162 Q13602 Q6IAE3 SNP23_HUMAN uc001zpz.1 uc001zpz.2 uc001zpz.3 uc001zpz.4 Specificity of vesicular transport is regulated, in part, by the interaction of a vesicle-associated membrane protein termed synaptobrevin/VAMP with a target compartment membrane protein termed syntaxin. These proteins, together with SNAP25 (synaptosome-associated protein of 25 kDa), form a complex which serves as a binding site for the general membrane fusion machinery. Synaptobrevin/VAMP and syntaxin are believed to be involved in vesicular transport in most, if not all cells, while SNAP25 is present almost exclusively in the brain, suggesting that a ubiquitously expressed homolog of SNAP25 exists to facilitate transport vesicle/target membrane fusion in other tissues. The protein encoded by this gene is structurally and functionally similar to SNAP25 and binds tightly to multiple syntaxins and synaptobrevins/VAMPs. It is an essential component of the high affinity receptor for the general membrane fusion machinery and is an important regulator of transport vesicle docking and fusion. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. Essential component of the high affinity receptor for the general membrane fusion machinery and an important regulator of transport vesicle docking and fusion. Binds simultaneously to SNAPIN and SYN4. Found in a complex with VAMP8 and STX4 in pancreas. Interacts with STX1A and STX12 (By similarity). Binds tightly to multiple syntaxins and synaptobrevins/VAMPs. Found in a complex with VAMP8 and STX1A. P54920:NAPA; NbExp=2; IntAct=EBI-745000, EBI-749652; Cell membrane; Peripheral membrane protein. Cell membrane; Lipid-anchor. Cell junction, synapse, synaptosome. Note=Mainly localized to the plasma membrane. Event=Alternative splicing; Named isoforms=2; Name=SNAP-23a; IsoId=O00161-1; Sequence=Displayed; Name=SNAP-23b; IsoId=O00161-2; Sequence=VSP_006187, VSP_006188; Ubiquitous. Highest levels where found in placenta. Belongs to the SNAP-25 family. Contains 2 t-SNARE coiled-coil homology domains. antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent histamine secretion by mast cell SNAP receptor activity protein binding nucleoplasm cytoplasm plasma membrane cell-cell adherens junction focal adhesion exocytosis post-Golgi vesicle-mediated transport vesicle targeting vesicle fusion protein transport membrane synaptic vesicle priming syntaxin binding cell junction phagocytic vesicle membrane SNARE complex synaptic vesicle fusion to presynaptic active zone membrane specific granule membrane specific granule azurophil granule mast cell granule neuron projection neutrophil degranulation synapse membrane fusion extracellular exosome tertiary granule membrane presynapse uc001zpz.1 uc001zpz.2 uc001zpz.3 uc001zpz.4 
ENST00000249700.9 TMOD2 ENST00000249700.9 Homo sapiens tropomodulin 2 (TMOD2), transcript variant 1, mRNA. (from RefSeq NM_014548) B4DEW6 ENST00000249700.1 ENST00000249700.2 ENST00000249700.3 ENST00000249700.4 ENST00000249700.5 ENST00000249700.6 ENST00000249700.7 ENST00000249700.8 NM_014548 NTMOD Q9NZR1 TMOD2_HUMAN uc002abk.1 uc002abk.2 uc002abk.3 uc002abk.4 uc002abk.5 This gene encodes a neuronal-specific member of the tropomodulin family of actin-regulatory proteins. The encoded protein caps the pointed end of actin filaments preventing both elongation and depolymerization. The capping activity of this protein is dependent on its association with tropomyosin. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2008]. Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton (By similarity). Binds to the N-terminus of tropomyosin and to actin. Cytoplasm, cytoskeleton (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NZR1-1; Sequence=Displayed; Name=2; IsoId=Q9NZR1-2; Sequence=VSP_041506; Neuronal-tissue specific. Belongs to the tropomodulin family. actin binding tropomyosin binding cytoplasm cytoskeleton striated muscle thin filament muscle contraction neuron-neuron synaptic transmission nervous system development learning or memory myofibril myofibril assembly growth cone neuron projection positive regulation of G-protein coupled receptor protein signaling pathway pointed-end actin filament capping uc002abk.1 uc002abk.2 uc002abk.3 uc002abk.4 uc002abk.5 
ENST00000249749.7 DLL4 ENST00000249749.7 Homo sapiens delta like canonical Notch ligand 4 (DLL4), mRNA. (from RefSeq NM_019074) DLL4_HUMAN ENST00000249749.1 ENST00000249749.2 ENST00000249749.3 ENST00000249749.4 ENST00000249749.5 ENST00000249749.6 NM_019074 Q3KP23 Q9NQT9 Q9NR61 UNQ1895/PRO4341 uc285mlf.1 This gene is a homolog of the Drosophila delta gene. The delta gene family encodes Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.104185.1, SRR1660805.112319.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249749.7/ ENSP00000249749.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays a role in the Notch signaling pathway. Activates Notch-1 and Notch-4 (By similarity). Binds to Notch-1 and Notch-4 (By similarity). Membrane; Single-pass type I membrane protein (Probable). Expressed in vascular endothelium. The Delta-Serrate-Lag2 (DSL) domain is required for binding to the Notch receptor. Ubiquitinated by MIB (MIB1 or MIB2), leading to its endocytosis and subsequent degradation (By similarity). Contains 1 DSL domain. Contains 8 EGF-like domains. negative regulation of transcription from RNA polymerase II promoter angiogenesis branching involved in blood vessel morphogenesis blood vessel remodeling aortic valve morphogenesis cardiac ventricle morphogenesis cardiac atrium morphogenesis ventricular trabecula myocardium morphogenesis pericardium morphogenesis Notch binding calcium ion binding protein binding plasma membrane cell communication signal transduction Notch signaling pathway multicellular organism development nervous system development visual perception blood circulation negative regulation of cell proliferation negative regulation of endothelial cell migration positive regulation of gene expression negative regulation of gene expression membrane integral component of membrane cell differentiation T cell differentiation dorsal aorta morphogenesis cellular response to vascular endothelial growth factor stimulus negative regulation of blood vessel endothelial cell migration cellular response to fibroblast growth factor stimulus negative regulation of Notch signaling pathway positive regulation of Notch signaling pathway regulation of neurogenesis response to stimulus ventral spinal cord interneuron fate commitment regulation of neural retina development Notch signaling involved in heart development blood vessel lumenization negative regulation of cell migration involved in sprouting angiogenesis negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis positive regulation of neural precursor cell proliferation uc285mlf.1 
ENST00000249750.9 ALDH1A2 ENST00000249750.9 Homo sapiens aldehyde dehydrogenase 1 family member A2 (ALDH1A2), transcript variant 1, mRNA. (from RefSeq NM_003888) AL1A2_HUMAN B3KY52 B4DZR2 ENST00000249750.1 ENST00000249750.2 ENST00000249750.3 ENST00000249750.4 ENST00000249750.5 ENST00000249750.6 ENST00000249750.7 ENST00000249750.8 F5H2Y9 NM_003888 O94788 Q2PJS6 Q8NHQ4 Q9UBR8 Q9UFY0 RALDH2 uc002aex.1 uc002aex.2 uc002aex.3 uc002aex.4 uc002aex.5 This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]. Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Does metabolize octanal and decanal but does not metabolize citral, benzaldehyde, acetaldehyde and propanal efficiently (By similarity). Retinal + NAD(+) + H(2)O = retinoate + NADH. Cofactor metabolism; retinol metabolism. Homotetramer (By similarity). Cytoplasm. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O94788-1; Sequence=Displayed; Name=2; IsoId=O94788-2; Sequence=VSP_017363; Note=No experimental confirmation available; Name=3; IsoId=O94788-3; Sequence=VSP_044496; Note=No experimental confirmation available; Belongs to the aldehyde dehydrogenase family. Sequence=BAA34786.1; Type=Erroneous initiation; Sequence=BAA34787.1; Type=Erroneous initiation; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/aldh1a2/"; blood vessel development retinal dehydrogenase activity kidney development liver development regulation of endothelial cell proliferation retinoic acid biosynthetic process heart morphogenesis 3-chloroallyl aldehyde dehydrogenase activity aldehyde dehydrogenase (NAD) activity cytoplasm cytosol vitamin A metabolic process midgut development positive regulation of cell proliferation negative regulation of cell proliferation determination of bilateral symmetry anterior/posterior pattern specification proximal/distal pattern formation positive regulation of gene expression neural crest cell development morphogenesis of embryonic epithelium oxidoreductase activity oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor retinal binding neural tube development pituitary gland development neuron differentiation lung development embryonic limb morphogenesis forebrain development hindbrain development pancreas development embryonic camera-type eye development response to estradiol response to vitamin A response to cytokine embryonic forelimb morphogenesis ureter maturation retinol metabolic process retinoic acid metabolic process retinal metabolic process 9-cis-retinoic acid biosynthetic process camera-type eye development positive regulation of apoptotic process retinoic acid receptor signaling pathway perinuclear region of cytoplasm embryonic digestive tract development cardiac muscle tissue development protein homotetramerization oxidation-reduction process face development cellular response to retinoic acid retinoic acid receptor signaling pathway involved in somitogenesis uc002aex.1 uc002aex.2 uc002aex.3 uc002aex.4 uc002aex.5 
ENST00000249776.13 KNSTRN ENST00000249776.13 Homo sapiens kinetochore localized astrin (SPAG5) binding protein (KNSTRN), transcript variant 1, mRNA. (from RefSeq NM_033286) B4DXA7 C15orf23 ENST00000249776.1 ENST00000249776.10 ENST00000249776.11 ENST00000249776.12 ENST00000249776.2 ENST00000249776.3 ENST00000249776.4 ENST00000249776.5 ENST00000249776.6 ENST00000249776.7 ENST00000249776.8 ENST00000249776.9 HSD11 NM_033286 Q147U5 Q32Q57 Q5ISJ0 Q6P2S5 Q6PJM0 Q86XB4 Q9Y448 SKAP SKAP_HUMAN TRAF4AF1 uc001zll.1 uc001zll.2 uc001zll.3 uc001zll.4 uc001zll.5 Essential component of the mitotic spindle required for faithful chromosome segregation and progression into anaphase. Promotes the metaphase-to-anaphase transition and is required for chromosome alignment, normal timing of sister chromatid segregation, and maintenance of spindle pole architecture. The astrin (SPAG5)-kinastrin (SKAP) complex promotes stable microtubule-kinetochore attachments. Part of an astrin (SPAG5)-kinastrin (SKAP) complex containing SKAP, SPAG5, PLK1, DYNLL1 and SGOL2. Interacts with SPAG5. Directly binds to microtubules, although at relatively low affinity. Interacts with CENPE; this interaction greatly favors microtubule-binding. Nucleus. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle pole. Note=Colocalizes with microtubules around centrosomes in prophase and with the mitotic spindle at prometaphase and metaphase. From late prometaphase to anaphase, is highly concentrated on kinetochores. Located at the kinetochore-microtubule interface. The astrin (SPAG5)-kinastrin (SKAP) complex localizes to the microtubule plus ends. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9Y448-1; Sequence=Displayed; Name=2; IsoId=Q9Y448-2; Sequence=VSP_041070; Name=3; IsoId=Q9Y448-3; Sequence=VSP_041069; Degraded at the end of mitosis. Down-regulated upon exposure to nitric oxide. Sequence=AAH04543.1; Type=Erroneous termination; Positions=174; Note=Translated as Glu; Sequence=AAH14060.1; Type=Erroneous termination; Positions=174; Note=Translated as Glu; Sequence=AAI07803.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; mitotic sister chromatid segregation chromosome, centromeric region kinetochore condensed chromosome kinetochore spindle pole protein binding nucleus chromosome cytoplasm cytosol cytoskeleton microtubule cell cycle spindle organization chromosome segregation microtubule cytoskeleton microtubule plus-end cell division regulation of attachment of spindle microtubules to kinetochore mitotic spindle uc001zll.1 uc001zll.2 uc001zll.3 uc001zll.4 uc001zll.5 
ENST00000249806.11 CLN6 ENST00000249806.11 Homo sapiens CLN6 transmembrane ER protein (CLN6), mRNA. (from RefSeq NM_017882) A8K560 CLN6_HUMAN ENST00000249806.1 ENST00000249806.10 ENST00000249806.2 ENST00000249806.3 ENST00000249806.4 ENST00000249806.5 ENST00000249806.6 ENST00000249806.7 ENST00000249806.8 ENST00000249806.9 NM_017882 Q6IAB1 Q96SR0 Q9NWW5 uc002arf.1 uc002arf.2 uc002arf.3 uc002arf.4 uc002arf.5 This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK000568.1, SRR1163658.154690.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249806.11/ ENSP00000249806.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Interacts with CRMP2. Endoplasmic reticulum membrane; Multi-pass membrane protein. Defects in CLN6 are the cause of neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]. A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 6 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. Defects in CLN6 are the cause of neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300]. An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4A has no visual involvement and is characterized by progressive myoclonic epilepsy. Name=NCL CLN6; Note=Neural Ceroid Lipofuscinoses mutation db; URL="http://www.ucl.ac.uk/ncl/cln6.shtml"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CLN6"; ganglioside metabolic process protein binding endoplasmic reticulum endoplasmic reticulum lumen endoplasmic reticulum membrane lysosome organization lysosomal lumen acidification visual perception cholesterol metabolic process membrane integral component of membrane protein catabolic process glycosaminoglycan metabolic process locomotion involved in locomotory behavior protein homodimerization activity cellular macromolecule catabolic process positive regulation of proteolysis uc002arf.1 uc002arf.2 uc002arf.3 uc002arf.4 uc002arf.5 
ENST00000249842.8 ISLR ENST00000249842.8 Homo sapiens immunoglobulin superfamily containing leucine rich repeat (ISLR), transcript variant 1, mRNA. (from RefSeq NM_005545) ENST00000249842.1 ENST00000249842.2 ENST00000249842.3 ENST00000249842.4 ENST00000249842.5 ENST00000249842.6 ENST00000249842.7 ISLR_HUMAN NM_005545 O14498 UNQ189/PRO215 uc002axg.1 uc002axg.2 uc002axg.3 Secreted (Potential). Expressed in various tissues including retina, heart, skeletal muscle, prostate, ovary, small intestine, thyroid, adrenal cortex, testis, stomach and spinal cord. Expressed in fetal lung and kidney. Contains 1 Ig-like (immunoglobulin-like) domain. Contains 5 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. Contains 1 LRRNT domain. platelet degranulation extracellular region cell adhesion platelet alpha granule lumen extracellular exosome uc002axg.1 uc002axg.2 uc002axg.3 
ENST00000249861.9 THAP10 ENST00000249861.9 Homo sapiens THAP domain containing 10 (THAP10), mRNA. (from RefSeq NM_020147) B2R8R0 ENST00000249861.1 ENST00000249861.2 ENST00000249861.3 ENST00000249861.4 ENST00000249861.5 ENST00000249861.6 ENST00000249861.7 ENST00000249861.8 NM_020147 Q9P2Z0 THA10_HUMAN uc002asv.1 uc002asv.2 uc002asv.3 uc002asv.4 uc002asv.5 This gene encodes a member of a family of proteins sharing an N-terminal Thanatos-associated domain. The Thanatos-associated domain contains a zinc finger signature similar to DNA-binding domains. This gene is part of a bidirectional gene pair on the long arm of chromosome 15 that is regulated by estrogen and may play a role in breast cancer. [provided by RefSeq, Nov 2010]. ##Evidence-Data-START## Transcript exon combination :: BC072414.1, SRR1660807.211441.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249861.9/ ENSP00000249861.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Contains 1 THAP-type zinc finger. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding nucleic acid binding DNA binding transposase activity protein binding transposition, DNA-mediated regulation of transcription from RNA polymerase II promoter sequence-specific DNA binding metal ion binding uc002asv.1 uc002asv.2 uc002asv.3 uc002asv.4 uc002asv.5 
ENST00000249883.10 AMOTL2 ENST00000249883.10 Homo sapiens angiomotin like 2 (AMOTL2), transcript variant 2, mRNA. (from RefSeq NM_016201) A8K6F1 AMOL2_HUMAN B7Z5Q1 E9PHW3 ENST00000249883.1 ENST00000249883.2 ENST00000249883.3 ENST00000249883.4 ENST00000249883.5 ENST00000249883.6 ENST00000249883.7 ENST00000249883.8 ENST00000249883.9 KIAA0989 NM_016201 Q53EP1 Q96F99 Q9UKB4 Q9Y2J4 uc003eqg.1 uc003eqg.2 uc003eqg.3 uc003eqg.4 Angiomotin is a protein that binds angiostatin, a circulating inhibitor of the formation of new blood vessels (angiogenesis). Angiomotin mediates angiostatin inhibition of endothelial cell migration and tube formation in vitro. The protein encoded by this gene is related to angiomotin and is a member of the motin protein family. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]. Regulates the translocation of phosphorylated SRC to peripheral cell-matrix adhesion sites. Required for proper architecture of actin filaments. Inhibits the Wnt/beta-catenin signaling pathway, probably by recruiting CTNNB1 to recycling endosomes and hence preventing its translocation to the nucleus. Participates in angiogenesis. May play a role in the polarity, proliferation and migration of endothelial cells. Selectively promotes FGF-induced MAPK activation through SRC. Interacts with SRC. Recycling endosome (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9Y2J4-1; Sequence=Displayed; Name=2; IsoId=Q9Y2J4-2; Sequence=VSP_015711; Name=3; IsoId=Q9Y2J4-3; Sequence=VSP_037826; Note=No experimental confirmation available; Name=4; IsoId=Q9Y2J4-4; Sequence=VSP_044081; Note=No experimental confirmation available; Phosphorylation at Tyr-107 is necessary for efficient binding to SRC and synergistically functioning with SRC to activate the downstream MAPK pathway (By similarity). Belongs to the angiomotin family. Sequence=AAH11454.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA76833.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAD97318.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; angiogenesis establishment of cell polarity involved in ameboidal cell migration protein binding endosome cytosol bicellular tight junction Wnt signaling pathway apical plasma membrane actin cytoskeleton organization regulation of cell migration cytoplasmic vesicle hippo signaling identical protein binding recycling endosome uc003eqg.1 uc003eqg.2 uc003eqg.3 uc003eqg.4 
ENST00000249887.3 ACKR4 ENST00000249887.3 Homo sapiens atypical chemokine receptor 4 (ACKR4), transcript variant 1, mRNA. (from RefSeq NM_178445) B2R9U7 CCBP2 CCR11 CCRL1 CCRL1_HUMAN ENST00000249887.1 ENST00000249887.2 NM_178445 Q9NPB9 VSHK1 uc003eow.1 uc003eow.2 uc003eow.3 uc003eow.4 uc003eow.5 uc003eow.6 The protein encoded by this gene is a member of the G protein-coupled receptor family, and is a receptor for C-C type chemokines. This receptor has been shown to bind dendritic cell- and T cell-activated chemokines including CCL19/ELC, CCL21/SLC, and CCL25/TECK. A pseudogene of this gene is found on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2013]. Receptor for CCL2, CCL8, CCL13, CCL19, CCL21 and CCL25. Cell membrane; Multi-pass membrane protein. Predominantly expressed in heart. Lower expression in lung, pancreas, spleen, colon, skeletal muscle and small intestine. Belongs to the G-protein coupled receptor 1 family. G-protein coupled receptor activity chemokine receptor activity scavenger receptor activity protein binding endosome early endosome plasma membrane integral component of plasma membrane endocytosis chemotaxis immune response signal transduction G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration external side of plasma membrane membrane integral component of membrane C-C chemokine receptor activity calcium-mediated signaling chemokine binding C-C chemokine binding recycling endosome cell chemotaxis chemokine-mediated signaling pathway uc003eow.1 uc003eow.2 uc003eow.3 uc003eow.4 uc003eow.5 uc003eow.6 
ENST00000249910.5 MBD4 ENST00000249910.5 Homo sapiens methyl-CpG binding domain 4, DNA glycosylase (MBD4), transcript variant 1, mRNA. (from RefSeq NM_003925) D3DNC3 D3DNC4 ENST00000249910.1 ENST00000249910.2 ENST00000249910.3 ENST00000249910.4 MBD4_HUMAN MED1 NM_003925 O95243 Q7Z4T3 Q96F09 uc003emh.1 uc003emh.2 uc003emh.3 The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains an MBD domain at the N-terminus that functions both in binding to methylated DNA and in protein interactions and a C-terminal mismatch-specific glycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]. Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specific for G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or 5-fluorouracil in G:U mismatches. Has no lyase activity. Was first identified as methyl-CpG-binding protein. Interacts with MLH1. Q13158:FADD; NbExp=6; IntAct=EBI-348011, EBI-494804; Nucleus. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O95243-1; Sequence=Displayed; Name=2; IsoId=O95243-2; Sequence=VSP_010816; Name=3; IsoId=O95243-3; Sequence=VSP_010817, VSP_010818; Note=No experimental confirmation available; Contains 1 MBD (methyl-CpG-binding) domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mbd4/"; chromatin DNA binding satellite DNA binding catalytic activity endodeoxyribonuclease activity protein binding nucleus nucleoplasm DNA repair cellular response to DNA damage stimulus pyrimidine-specific mismatch base pair DNA N-glycosylase activity response to radiation nuclear speck hydrolase activity DNA N-glycosylase activity response to estradiol depyrimidination uc003emh.1 uc003emh.2 uc003emh.3 
ENST00000249923.7 COPB1 ENST00000249923.7 Homo sapiens COPI coat complex subunit beta 1 (COPB1), transcript variant 1, mRNA. (from RefSeq NM_016451) COPB COPB_HUMAN D3DQX0 ENST00000249923.1 ENST00000249923.2 ENST00000249923.3 ENST00000249923.4 ENST00000249923.5 ENST00000249923.6 MSTP026 NM_016451 P53618 Q6GTT7 Q9NTK2 Q9UNW7 uc001mli.1 uc001mli.2 uc001mli.3 This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]. The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non- clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors. Plays a functional role in facilitating the transport of kappa- type opioid receptor mRNAs into axons and enhances translation of these proteins. Required for limiting lipid storage in lipid droplets. Involved in lipid homeostasis by regulating the presence of perilipin family members PLIN2 and PLIN3 at the lipid droplet surface and promoting the association of adipocyte surface triglyceride lipase (PNPLA2) with the lipid droplet to mediate lipolysis (By similarity). Involved in the Golgi disassembly and reassembly processes during cell cycle. Involved in autophagy by playing a role in early endosome function. Plays a role in organellar compartmentalization of secretory compartments including endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC), Golgi, trans-Golgi network (TGN) and recycling endosomes, and in biosynthetic transport of CAV1. Promotes degradation of Nef cellular targets CD4 and MHC class I antigens by facilitating their trafficking to degradative compartments. Oligomeric complex that consists of at least the alpha, beta, beta', gamma, delta, epsilon and zeta subunits. Interacts (via C-terminus) with HIV-1 Nef; the interaction is direct. Interacts with SCYL1. Interacts with COPG1. Interacts (via trunk domain) with ARF1 (via switch I region); the interaction is direct. Interacts with KCNK2/TREK (via N-terminus); this interaction increases the channel-mediated whole cell currents and promotes plasma membrane expression of KCNK2/TREK. Interacts with anthrax lethal factor (LF); this interaction may facilitate endosomal vesicle membrane translocation of LF and its release from the lumen of endosomal vesicles to external milieu. Interacts with CAPN8 and PRKCE (By similarity). Interacts with ARF1 (myristoylated); this interaction is required for binding of COPB1 to Golgi membranes (By similarity). Cytoplasm. Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle, COPI-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane. Endoplasmic reticulum- Golgi intermediate compartment. Note=The coatomer is cytoplasmic or polymerized on the cytoplasmic side of the Golgi, as well as on the vesicles/buds originating from it. Proteolytic cleavage by CAPN8 triggers translocation from Golgi to cytoplasm (By similarity). Found in perinuclear vesicular-tubular clusters (VTCs) and in the Golgi region where associated with vesicles, buds and rims of the Golgi stack (By similarity). Occasionally present at the trans-side of Golgi, but mainly present at the cis- Golgi side in transitional areas (TA), on so-called peripheral elements (PE) consisting of tubules and vesicles located between the cup-shaped transitional elements (TE) of the rough endoplasmic reticulum (RER) and the cis-most Golgi cisternae (By similarity). Present in cytoplasm, not associated with visible coats or membranes, with a minor fraction present on small clusters of tubules and vesicles (By similarity). Some association with high- density and low-density microsomes and mitochondria/nuclei fraction (By similarity). Very little found in plasma membrane fraction (By similarity). Proteolytically cleaved between Ser-528 and Ser-529 by CAPN8 (By similarity). Brefeldin A induces dissociation from the Golgi of the beta-COP and presumably the other coatomer subunits. Contains 6 HEAT repeats. Golgi membrane structural molecule activity protein binding cytoplasm endoplasmic reticulum membrane endoplasmic reticulum-Golgi intermediate compartment Golgi apparatus Golgi-associated vesicle cytosol plasma membrane intracellular protein transport ER to Golgi vesicle-mediated transport retrograde vesicle-mediated transport, Golgi to ER intra-Golgi vesicle-mediated transport protein transport membrane viral process vesicle-mediated transport membrane coat COPI vesicle coat transport vesicle COPI-coated vesicle COPI-coated vesicle membrane secretory granule membrane cytoplasmic vesicle intracellular membrane-bounded organelle neutrophil degranulation tertiary granule membrane ficolin-1-rich granule membrane uc001mli.1 uc001mli.2 uc001mli.3 
ENST00000250003.4 MYOD1 ENST00000250003.4 Homo sapiens myogenic differentiation 1 (MYOD1), mRNA. (from RefSeq NM_002478) BHLHC1 ENST00000250003.1 ENST00000250003.2 ENST00000250003.3 MYF3 MYOD MYOD1_HUMAN NM_002478 O75321 P15172 uc001mni.1 uc001mni.2 uc001mni.3 uc001mni.4 uc001mni.5 This gene encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It regulates muscle cell differentiation by inducing cell cycle arrest, a prerequisite for myogenic initiation. The protein is also involved in muscle regeneration. It activates its own transcription which may stabilize commitment to myogenesis. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X56677.1, X17650.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2153307, SAMEA2162946 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000250003.4/ ENSP00000250003.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts. Activates muscle-specific promoters. Interacts with and is inhibited by the twist protein. This interaction probably involves the basic domains of both proteins (By similarity). Efficient DNA binding requires dimerization with another bHLH protein. Seems to form active heterodimers with ITF-2. Interacts with SUV39H1 and CDK9. Interacts with DDX5 (By similarity). P15923-1:TCF3; NbExp=2; IntAct=EBI-488878, EBI-769645; Nucleus. Phosphorylated by CDK9. This phosphorylation promotes its function in muscle differentiation. Acetylated by a complex containing EP300 and PCAF. The acetylation is essential to activate target genes. Conversely, its deacetylation by SIRT1 inhibits its function (By similarity). Ubiquitinated on the N-terminus; which is required for proteasomal degradation. Contains 1 bHLH (basic helix-loop-helix) domain. Name=Wikipedia; Note=MyoD entry; URL="http://en.wikipedia.org/wiki/MyoD"; regulation of alternative mRNA splicing, via spliceosome nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity protein binding nucleus nucleoplasm transcription factor complex cytoplasm cytosol regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter protein phosphorylation multicellular organism development muscle organ development myoblast fate determination skeletal muscle tissue development myoblast fusion transcription factor binding cellular response to starvation regulation of gene expression myotube differentiation myotube cell development myotube differentiation involved in skeletal muscle regeneration nuclear body enzyme binding myofibril cell differentiation chromatin DNA binding ubiquitin protein ligase binding nuclear hormone receptor binding skeletal muscle cell differentiation muscle cell fate commitment positive regulation of skeletal muscle tissue regeneration regulation of RNA splicing skeletal muscle fiber adaptation sequence-specific DNA binding histone H3 acetylation histone H4 acetylation myoblast differentiation positive regulation of myoblast differentiation positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity protein dimerization activity skeletal muscle fiber development positive regulation of skeletal muscle fiber development striated muscle cell differentiation positive regulation of muscle cell differentiation E-box binding cellular response to tumor necrosis factor cellular response to glucocorticoid stimulus cellular response to estradiol stimulus cellular response to oxygen levels positive regulation of myoblast fusion positive regulation of snRNA transcription from RNA polymerase II promoter promoter-specific chromatin binding negative regulation of myoblast proliferation uc001mni.1 uc001mni.2 uc001mni.3 uc001mni.4 uc001mni.5 
ENST00000250055.3 SOX15 ENST00000250055.3 Homo sapiens SRY-box transcription factor 15 (SOX15), mRNA. (from RefSeq NM_006942) D3DTQ0 ENST00000250055.1 ENST00000250055.2 NM_006942 O60248 P35717 Q9Y6W7 SOX12 SOX15_HUMAN SOX20 SOX26 SOX27 uc002ghz.1 uc002ghz.2 uc002ghz.3 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC000985.2, AB006867.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000250055.3/ ENSP00000355354.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds to the 5'-AACAAT-3' sequence. Nucleus (Potential). Widely expressed in fetal and adult tissues examined, highest level found in fetal spinal cord and adult brain and testis. Contains 1 HMG box DNA-binding domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding protein binding nucleus cytoplasm chromatin organization regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter male gonad development positive regulation of satellite cell activation involved in skeletal muscle regeneration cell differentiation skeletal muscle tissue regeneration nuclear transcription factor complex negative regulation of striated muscle tissue development positive regulation of transcription from RNA polymerase II promoter myoblast development positive regulation of G0 to G1 transition positive regulation of myoblast proliferation uc002ghz.1 uc002ghz.2 uc002ghz.3 
ENST00000250056.12 PIMREG ENST00000250056.12 Homo sapiens PICALM interacting mitotic regulator (PIMREG), transcript variant 2, mRNA. (from RefSeq NM_001195228) ENST00000250056.1 ENST00000250056.10 ENST00000250056.11 ENST00000250056.2 ENST00000250056.3 ENST00000250056.4 ENST00000250056.5 ENST00000250056.6 ENST00000250056.7 ENST00000250056.8 ENST00000250056.9 FA64A_HUMAN FAM64A NM_001195228 Q96CT4 Q9BSJ6 Q9NVV1 Q9NWB5 uc002gcw.1 uc002gcw.2 uc002gcw.3 P04156:PRNP; NbExp=5; IntAct=EBI-2568609, EBI-977302; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BSJ6-1; Sequence=Displayed; Name=2; IsoId=Q9BSJ6-2; Sequence=VSP_023997; protein binding nucleus nucleolus cell cycle cell division uc002gcw.1 uc002gcw.2 uc002gcw.3 
ENST00000250076.8 ZNF232 ENST00000250076.8 Homo sapiens zinc finger protein 232 (ZNF232), transcript variant 1, mRNA. (from RefSeq NM_014519) ENST00000250076.1 ENST00000250076.2 ENST00000250076.3 ENST00000250076.4 ENST00000250076.5 ENST00000250076.6 ENST00000250076.7 NM_014519 Q9UNY5 ZN232_HUMAN ZSCAN11 uc002gat.1 uc002gat.2 uc002gat.3 uc002gat.4 uc002gat.5 May be involved in transcriptional regulation. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=Q9UNY5-1; Sequence=Displayed; Name=Short; IsoId=Q9UNY5-2; Sequence=VSP_006906; Ubiquitous. Higher expression seen in the liver, testis and ovary. Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 5 C2H2-type zinc fingers. Contains 1 SCAN box domain. Sequence=AAH16039.2; Type=Erroneous initiation; nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus cytosol regulation of transcription, DNA-templated intracellular membrane-bounded organelle metal ion binding uc002gat.1 uc002gat.2 uc002gat.3 uc002gat.4 uc002gat.5 
ENST00000250092.11 CD68 ENST00000250092.11 Homo sapiens CD68 molecule (CD68), transcript variant 1, mRNA. (from RefSeq NM_001251) CD68_HUMAN ENST00000250092.1 ENST00000250092.10 ENST00000250092.2 ENST00000250092.3 ENST00000250092.4 ENST00000250092.5 ENST00000250092.6 ENST00000250092.7 ENST00000250092.8 ENST00000250092.9 NM_001251 P34810 Q53HR6 Q53XI3 Q96BI7 uc002ghv.1 uc002ghv.2 uc002ghv.3 uc002ghv.4 uc002ghv.5 This gene encodes a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a member of the lysosomal/endosomal-associated membrane glycoprotein (LAMP) family. The protein primarily localizes to lysosomes and endosomes with a smaller fraction circulating to the cell surface. It is a type I integral membrane protein with a heavily glycosylated extracellular domain and binds to tissue- and organ-specific lectins or selectins. The protein is also a member of the scavenger receptor family. Scavenger receptors typically function to clear cellular debris, promote phagocytosis, and mediate the recruitment and activation of macrophages. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]. Could play a role in phagocytic activities of tissue macrophages, both in intracellular lysosomal metabolism and extracellular cell-cell and cell-pathogen interactions. Binds to tissue- and organ-specific lectins or selectins, allowing homing of macrophage subsets to particular sites. Rapid recirculation of CD68 from endosomes and lysosomes to the plasma membrane may allow macrophages to crawl over selectin-bearing substrates or other cells. Isoform Short: Cell membrane; Single-pass type I membrane protein. Isoform Long: Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=2; Name=Long; Synonyms=CD68.1; IsoId=P34810-1; Sequence=Displayed; Name=Short; Synonyms=CD68.2; IsoId=P34810-2; Sequence=VSP_003041, VSP_003042; Highly expressed by blood monocytes and tissue macrophages. Also expressed in lymphocytes, fibroblasts and endothelial cells. Expressed in many tumor cell lines which could allow them to attach to selectins on vascular endothelium, facilitating their dissemination to secondary sites. N- and O-glycosylated. Belongs to the LAMP family. CD68 is a commonly used marker for macrophages. However, a number of studies (PubMed:15194571, PubMed:15647451 and PubMed:18405323) have shown that CD68 antibodies react with other hematopoietic and non-hematopoietic cell types, suggesting that CD68 may not be a macrophage-specific antigen. inflammatory response to antigenic stimulus negative regulation of dendritic cell antigen processing and presentation cell lysosome lysosomal membrane endosome plasma membrane aging endosome membrane membrane integral component of membrane cellular response to nutrient levels late endosome membrane autocrine signaling azurophil granule membrane neutrophil degranulation cellular response to lipopolysaccharide establishment of protein localization to organelle uc002ghv.1 uc002ghv.2 uc002ghv.3 uc002ghv.4 uc002ghv.5 
ENST00000250101.10 TXNDC17 ENST00000250101.10 Homo sapiens thioredoxin domain containing 17 (TXNDC17), mRNA. (from RefSeq NM_032731) A8K7E8 ENST00000250101.1 ENST00000250101.2 ENST00000250101.3 ENST00000250101.4 ENST00000250101.5 ENST00000250101.6 ENST00000250101.7 ENST00000250101.8 ENST00000250101.9 NM_032731 Q9BRA2 TXD17_HUMAN TXNL5 uc002gdf.1 uc002gdf.2 uc002gdf.3 uc002gdf.4 uc002gdf.5 uc002gdf.6 Disulfide reductase. May participate in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyze dithiol-disulfide exchange reactions. Modulates TNF-alpha signaling and NF-kappa-B activation. Has peroxidase activity and may contribute to the elimination of cellular hydrogen peroxide. Interacts with TRXR1 and DYNLL1/DNCL1. Cytoplasm. Ubiquitously expressed in cell lines. The oxidized protein is reduced by TRXR1. Belongs to the thioredoxin family. Contains 1 thioredoxin domain. peroxidase activity protein binding cytoplasm cytosol tumor necrosis factor-mediated signaling pathway protein-disulfide reductase activity oxidation-reduction process extracellular exosome cellular oxidant detoxification uc002gdf.1 uc002gdf.2 uc002gdf.3 uc002gdf.4 uc002gdf.5 uc002gdf.6 
ENST00000250111.9 ATP1B2 ENST00000250111.9 Homo sapiens ATPase Na+/K+ transporting subunit beta 2 (ATP1B2), transcript variant 1, mRNA. (from RefSeq NM_001678) A0AV17 A8K278 AT1B2_HUMAN D3DTQ2 ENST00000250111.1 ENST00000250111.2 ENST00000250111.3 ENST00000250111.4 ENST00000250111.5 ENST00000250111.6 ENST00000250111.7 ENST00000250111.8 NM_001678 O60444 P14415 uc002gif.1 uc002gif.2 uc002gif.3 The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]. This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-2 subunit is not known. Composed of three subunits: alpha (catalytic), beta and gamma. Membrane; Single-pass type II membrane protein. Belongs to the X(+)/potassium ATPases subunit beta family. ATPase activator activity sodium:potassium-exchanging ATPase activity protein binding cytoplasm plasma membrane sodium:potassium-exchanging ATPase complex ion transport potassium ion transport sodium ion transport cellular sodium ion homeostasis cell adhesion establishment or maintenance of transmembrane electrochemical gradient membrane integral component of membrane apical plasma membrane cellular potassium ion homeostasis positive regulation of ATPase activity ion transmembrane transport sodium ion export from cell protein stabilization leukocyte migration ATPase binding membrane repolarization cell communication by electrical coupling involved in cardiac conduction positive regulation of potassium ion transmembrane transporter activity positive regulation of sodium ion export from cell positive regulation of potassium ion import regulation of cardiac conduction potassium ion import across plasma membrane uc002gif.1 uc002gif.2 uc002gif.3 
ENST00000250113.12 FXR2 ENST00000250113.12 Homo sapiens FMR1 autosomal homolog 2 (FXR2), mRNA. (from RefSeq NM_004860) B2R9M2 D3DTQ1 ENST00000250113.1 ENST00000250113.10 ENST00000250113.11 ENST00000250113.2 ENST00000250113.3 ENST00000250113.4 ENST00000250113.5 ENST00000250113.6 ENST00000250113.7 ENST00000250113.8 ENST00000250113.9 FMR1L2 FXR2_HUMAN NM_004860 P51116 Q86V09 Q8WUM2 uc002gia.1 uc002gia.2 uc002gia.3 uc002gia.4 The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which is similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large ribosomal subunits. This encoded protein may self-associate or interact with FMRP and FXR1. It may have a role in the development of fragile X cognitive disability syndrome. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC067272.1, U31501.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000250113.12/ ENSP00000250113.7 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## RNA-binding protein. Interacts with FMR1 and FXR1. Interacts with CYFIP2 but not with CYFIP1. Interacts with TDRD3. Q15041:ARL6IP1; NbExp=3; IntAct=EBI-740459, EBI-714543; Q9UIC8:LCMT1; NbExp=2; IntAct=EBI-740459, EBI-747632; O95751:LDOC1; NbExp=3; IntAct=EBI-740459, EBI-740738; Q9NS73:MBIP; NbExp=3; IntAct=EBI-740459, EBI-741953; Q9HAF1:MEAF6; NbExp=3; IntAct=EBI-740459, EBI-399266; P49902:NT5C2; NbExp=3; IntAct=EBI-740459, EBI-742084; P22234:PAICS; NbExp=3; IntAct=EBI-740459, EBI-712261; Q9UI14:RABAC1; NbExp=3; IntAct=EBI-740459, EBI-712367; Cytoplasm. The tandem Tudor domains preferentially recognize trimethylated histone peptides. Belongs to the FMR1 family. Contains 2 Agenet-like domains. Contains 2 KH domains. regulation of alternative mRNA splicing, via spliceosome positive regulation of protein phosphorylation nucleic acid binding RNA binding mRNA binding mRNA 3'-UTR binding protein binding nucleus cytoplasm cytosol polysome regulation of translation postsynaptic density membrane negative regulation of translation cytosolic large ribosomal subunit axon growth cone ribonucleoprotein granule cytoplasmic ribonucleoprotein granule identical protein binding protein homodimerization activity neuronal cell body dendritic spine regulation of mRNA stability dendritic spine neck translation regulator activity positive regulation of translation protein heterodimerization activity regulation of filopodium assembly presynapse dendritic filopodium positive regulation of response to DNA damage stimulus uc002gia.1 uc002gia.2 uc002gia.3 uc002gia.4 
ENST00000250124.11 MPDU1 ENST00000250124.11 Homo sapiens mannose-P-dolichol utilization defect 1 (MPDU1), transcript variant 2, non-coding RNA. (from RefSeq NR_024603) B3KQP1 ENST00000250124.1 ENST00000250124.10 ENST00000250124.2 ENST00000250124.3 ENST00000250124.4 ENST00000250124.5 ENST00000250124.6 ENST00000250124.7 ENST00000250124.8 ENST00000250124.9 MPU1_HUMAN NR_024603 O75352 Q9BUU8 uc002ghw.1 uc002ghw.2 uc002ghw.3 uc002ghw.4 uc002ghw.5 This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]. Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked and O-linked oligosaccharides and GPI anchors (By similarity). O95714:HERC2; NbExp=1; IntAct=EBI-1046501, EBI-1058922; Q15014:MORF4L2; NbExp=1; IntAct=EBI-1046501, EBI-399257; Q15126:PMVK; NbExp=1; IntAct=EBI-1046501, EBI-1055562; Q9H0J4:QRICH2; NbExp=1; IntAct=EBI-1046501, EBI-1053637; P61247:RPS3A; NbExp=1; IntAct=EBI-1046501, EBI-352378; Q15758:SLC1A5; NbExp=1; IntAct=EBI-1046501, EBI-356576; Membrane; Multi-pass membrane protein (Potential). Defects in MPDU1 are the cause of congenital disorder of glycosylation type 1F (CDG1F) [MIM:609180]. CDGs are a family of severe inherited diseases caused by a defect in protein N- glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Belongs to the MPDU1 (TC 2.A.43.3) family. Contains 2 PQ-loop domains. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MPDU1"; protein binding endoplasmic reticulum membrane protein folding dolichol-linked oligosaccharide biosynthetic process oligosaccharide biosynthetic process membrane integral component of membrane uc002ghw.1 uc002ghw.2 uc002ghw.3 uc002ghw.4 uc002ghw.5 
ENST00000250160.11 CCN4 ENST00000250160.11 Homo sapiens cellular communication network factor 4 (CCN4), transcript variant 1, mRNA. (from RefSeq NM_003882) A8KAG6 ENST00000250160.1 ENST00000250160.10 ENST00000250160.2 ENST00000250160.3 ENST00000250160.4 ENST00000250160.5 ENST00000250160.6 ENST00000250160.7 ENST00000250160.8 ENST00000250160.9 NM_003882 O95388 Q5JBS8 Q9HCS3 WISP1 WISP1_HUMAN uc003yub.1 uc003yub.2 uc003yub.3 uc003yub.4 uc003yub.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 domain. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. It is expressed at a high level in fibroblast cells, and overexpressed in colon tumors. The encoded protein binds to decorin and biglycan, two members of a family of small leucine-rich proteoglycans present in the extracellular matrix of connective tissue, and possibly prevents the inhibitory activity of decorin and biglycan in tumor cell proliferation. It also attenuates p53-mediated apoptosis in response to DNA damage through activation of the Akt kinase. It is 83% identical to the mouse protein at the amino acid level. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2011]. Downstream regulator in the Wnt/Frizzled-signaling pathway. Associated with cell survival. Attenuates p53-mediated apoptosis in response to DNA damage through activation of AKT kinase. Up-regulates the anti-apoptotic Bcl-X(L) protein. Adheres to skin and melanoma fibroblasts. In vitro binding to skin fibroblasts occurs through the proteoglycans, decorin and biglycan. Secreted. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O95388-1; Sequence=Displayed; Name=2; Synonyms=WISP1v; IsoId=O95388-2; Sequence=VSP_008008, VSP_008009; Name=3; IsoId=O95388-3; Sequence=VSP_042010; Expressed in heart, kidney, lung, pancreas, placenta, ovary, small intestine and spleen. Isoform 2 is expressed predominantly in scirrhous gastric carcinoma and, weakly in placenta. Overexpression is associated with several cancers including breast cancer and colon tumors. Isoform 2 is overexpressed in scirrhous gastric carcinoma. Belongs to the CCN family. Contains 1 CTCK (C-terminal cystine knot-like) domain. Contains 1 IGFBP N-terminal domain. Contains 1 TSP type-1 domain. Contains 1 VWFC domain. osteoblast differentiation integrin binding protein binding insulin-like growth factor binding extracellular region extracellular space cytoplasm cytosol cell adhesion signal transduction cell-cell signaling heparin binding positive regulation of smooth muscle cell migration Wnt signaling pathway positive regulation of Wnt signaling pathway osteoclast differentiation extracellular matrix negative regulation of chondrocyte differentiation glucose homeostasis negative regulation of fat cell differentiation positive regulation of osteoblast differentiation positive regulation of smooth muscle cell proliferation regulation of cytokine secretion positive regulation of inflammatory response bone development negative regulation of cell death positive regulation of wound healing uc003yub.1 uc003yub.2 uc003yub.3 uc003yub.4 uc003yub.5 
ENST00000250237.10 QTRT1 ENST00000250237.10 Homo sapiens queuine tRNA-ribosyltransferase catalytic subunit 1 (QTRT1), mRNA. (from RefSeq NM_031209) ENST00000250237.1 ENST00000250237.2 ENST00000250237.3 ENST00000250237.4 ENST00000250237.5 ENST00000250237.6 ENST00000250237.7 ENST00000250237.8 ENST00000250237.9 NM_031209 Q96BQ4 Q9BXQ9 Q9BXR0 TGT TGT_HUMAN TGUT uc002mpr.1 uc002mpr.2 uc002mpr.3 uc002mpr.4 uc002mpr.5 This gene encodes the catalytic subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine and tyrosine. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Feb 2012]. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.657272.1, AF302783.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000250237.10/ ENSP00000250237.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Interacts with QTRTD1 to form an active queuine tRNA- ribosyltransferase. This enzyme exchanges queuine for the guanine at the wobble position of tRNAs with GU(N) anticodons (tRNA-Asp, -Asn, -His and -Tyr), thereby forming the hypermodified nucleoside queuosine (Q) (7-(((4,5-cis-dihydroxy-2-cyclopenten-1- yl)amino)methyl)-7-deazaguanosine) (By similarity). Guanine(34) in tRNA + queuine = queuosine(34) in tRNA + guanine. Binds 1 zinc ion per subunit (By similarity). tRNA modification; tRNA-queuosine biosynthesis. Interacts with QTRTD1 (By similarity). Cytoplasm (By similarity). Mitochondrion (By similarity). Nucleus (By similarity). Note=Weakly associates with mitochondria, possibly via QTRTD1 (By similarity). Belongs to the queuine tRNA-ribosyltransferase family. Sequence=AAH15350.1; Type=Erroneous initiation; nucleus cytoplasm mitochondrion mitochondrial outer membrane tRNA modification tRNA processing queuine tRNA-ribosyltransferase activity membrane transferase activity transferase activity, transferring glycosyl groups transferase activity, transferring pentosyl groups macromolecular complex protein homodimerization activity metal ion binding protein heterodimerization activity tRNA-guanine transglycosylation uc002mpr.1 uc002mpr.2 uc002mpr.3 uc002mpr.4 uc002mpr.5 
ENST00000250340.9 CLEC11A ENST00000250340.9 Homo sapiens C-type lectin domain containing 11A (CLEC11A), mRNA. (from RefSeq NM_002975) B2RAD4 CLC11_HUMAN CLECSF3 ENST00000250340.1 ENST00000250340.2 ENST00000250340.3 ENST00000250340.4 ENST00000250340.5 ENST00000250340.6 ENST00000250340.7 ENST00000250340.8 LSLCL NM_002975 Q9Y240 SCGF uc002psy.1 uc002psy.2 uc002psy.3 uc002psy.4 uc002psy.5 This gene encodes a member of the C-type lectin superfamily. The encoded protein is a secreted sulfated glycoprotein and functions as a growth factor for primitive hematopoietic progenitor cells. An alternative splice variant has been described but its biological nature has not been determined. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF020044.1, SRR3476690.182083.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000250340.9/ ENSP00000250340.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Stimulates the proliferation and differentiation of hematopoietic precursor cells from various lineages, including erythrocytes, lymphocytes, granulocytes and macrophages. Acts synergistically with other cytokines, including IL-3, GCSF, GMCSF and FLT3 ligand. Suppresses SCF-stimulated erythrocyte proliferation. Cytoplasm. Secreted. Expressed in skeletal tissues including bone marrow, chondrocytes, primary ossification center-associated cells, the perichondrium and periosteum. Lower levels of expression were detected in spleen, thymus, appendix and fetal liver. In the bone marrow, expression is limited to immature neutrophils. Expression was not detected in circulating mature neutrophils. O-glycosylated. Probably sulfated on the O-glycans. Contains 1 C-type lectin domain. Name=Functional Glycomics Gateway - Glycan Binding; Note=Stem cell growth factor; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_259"; ossification extracellular region extracellular space cytoplasm signal transduction growth factor activity positive regulation of cell proliferation carbohydrate binding uc002psy.1 uc002psy.2 uc002psy.3 uc002psy.4 uc002psy.5 
ENST00000250360.8 SIGLEC9 ENST00000250360.8 Homo sapiens sialic acid binding Ig like lectin 9 (SIGLEC9), transcript variant 2, mRNA. (from RefSeq NM_014441) ENST00000250360.1 ENST00000250360.2 ENST00000250360.3 ENST00000250360.4 ENST00000250360.5 ENST00000250360.6 ENST00000250360.7 NM_014441 Q6GTU4 Q9BYI9 Q9Y336 SIGL9_HUMAN UNQ668/PRO1302 uc002pvu.1 uc002pvu.2 uc002pvu.3 uc002pvu.4 uc002pvu.5 Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,3- or alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. Membrane; Single-pass type I membrane protein. Expressed by peripheral blood leukocytes (neutrophils and monocytes but not eosinophils). Found in liver, fetal liver, bone marrow, placenta, spleen and in lower levels in skeletal muscle, fetal brain, stomach, lung, thymus, prostate, brain, mammary, adrenal gland, colon, trachea, cerebellum, testis, small intestine and spinal cordon. Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2- containing phosphatases. Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family. Contains 2 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 Ig-like V-type (immunoglobulin-like) domain. Name=Functional Glycomics Gateway - Glycan Binding; Note=Siglec-9; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Itlect_275"; protein binding plasma membrane integral component of plasma membrane cell adhesion cell surface receptor signaling pathway membrane integral component of membrane carbohydrate binding secretory granule membrane neutrophil degranulation regulation of immune response uc002pvu.1 uc002pvu.2 uc002pvu.3 uc002pvu.4 uc002pvu.5 
ENST00000250366.6 ENSG00000269741 ENST00000250366.6 Belongs to the peptidase S1 family. (from UniProt Q2XQG6) DQ267419 ENST00000250366.1 ENST00000250366.2 ENST00000250366.3 ENST00000250366.4 ENST00000250366.5 KLK9 Q2XQG6 Q2XQG6_HUMAN hCG_1733566 uc061bvm.1 Belongs to the peptidase S1 family. serine-type endopeptidase activity proteolysis peptidase activity serine-type peptidase activity hydrolase activity uc061bvm.1 
ENST00000250373.9 NFATC4 ENST00000250373.9 Homo sapiens nuclear factor of activated T cells 4 (NFATC4), transcript variant 2, mRNA. (from RefSeq NM_004554) B4DDG5 B4DY55 B5B2U7 B5B2U8 B5B2U9 B5B2V0 B5B2V1 B5B2V2 B5B2V3 B5B2V4 B5B2V5 B5B2V7 B5B2V8 B5B2V9 B5B2W0 B5B2W1 B5B2W2 B5B2W3 B5B2W4 B5B2W5 B5B2W6 B5B2W7 B5B2W8 B5B2W9 B5B2X0 ENST00000250373.1 ENST00000250373.2 ENST00000250373.3 ENST00000250373.4 ENST00000250373.5 ENST00000250373.6 ENST00000250373.7 ENST00000250373.8 NFAC4_HUMAN NFAT3 NM_004554 Q14934 Q7Z598 Q96H68 uc001wpc.1 uc001wpc.2 uc001wpc.3 uc001wpc.4 uc001wpc.5 uc001wpc.6 This gene encodes a member of the nuclear factor of activated T cells (NFAT) protein family. The encoded protein is part of a DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor stimulation and an inducible nuclear component. NFAT proteins are activated by the calmodulin-dependent phosphatase, calcineurin. The encoded protein plays a role in the inducible expression of cytokine genes in T cells, especially in the induction of interleukin-2 and interleukin-4. Alternative splicing results in multiple transcript variants. [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 :: BC053855.1, L41066.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000250373.9/ ENSP00000250373.4 RefSeq Select criteria :: based on manual assertion, conservation, expression ##RefSeq-Attributes-END## Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 and IL- 4. Transcriptionally repressed by estrogen receptors; this inhibition is further enhanced by estrogen. Increases the transcriptional activity of PPARG and has a direct role in adipocyte differentiation. May play an important role in myotube differentiation. May play a critical role in cardiac development and hypertrophy. May play a role in deafferentation-induced apoptosis of sensory neurons. Member of the multicomponent NFATC transcription complex that consists of at least two components, a pre-existing cytoplasmic component NFATC2 and an inducible nuclear component NFATC1. Other members such as NFATC4, NFATC3 or members of the activating protein-1 family, MAF, GATA4 and Cbp/p300 can also bind the complex. NFATC proteins bind to DNA as monomers. Interacts with CREBBP, GATA4, IRAK1, MAPK8, MAPK9 and RPS6KA3. Cytoplasm. Nucleus. Note=Cytoplasmic for the phosphorylated form and nuclear after activation that is controlled by calcineurin-mediated dephosphorylation. Rapid nuclear exit of NFATC is thought to be one mechanism by which cells distinguish between sustained and transient calcium signals. The subcellular localization of NFATC plays a key role in the regulation of gene transcription. Event=Alternative splicing; Named isoforms=24; Name=1; Synonyms=ID-IXL; IsoId=Q14934-1; Sequence=Displayed; Name=2; Synonyms=IA-IXL; IsoId=Q14934-2; Sequence=VSP_036701; Name=3; Synonyms=IA-IXi; IsoId=Q14934-3; Sequence=VSP_036701, VSP_036705; Note=Due to an intron retention; Name=4; Synonyms=IC-IXL; IsoId=Q14934-4; Sequence=VSP_036702; Name=5; Synonyms=IC-IXi; IsoId=Q14934-5; Sequence=VSP_036702, VSP_036705; Note=Due to an intron retention; Name=6; Synonyms=IB-IXL; IsoId=Q14934-6; Sequence=VSP_036703; Name=7; Synonyms=IB-IXi; IsoId=Q14934-7; Sequence=VSP_036703, VSP_036705; Note=Due to an intron retention; Name=8; Synonyms=ID-IXi; IsoId=Q14934-8; Sequence=VSP_036705; Note=Due to an intron retention; Name=9; Synonyms=IE-IXL; IsoId=Q14934-9; Sequence=VSP_036700; Name=10; Synonyms=IE-IXi; IsoId=Q14934-10; Sequence=VSP_036700, VSP_036705; Note=Due to an intron retention; Name=11; Synonyms=IA-IXS; IsoId=Q14934-11; Sequence=VSP_036701, VSP_036704; Name=12; Synonyms=IEi-IXL; IsoId=Q14934-12; Sequence=VSP_036699; Note=Due to an intron retention; Name=13; Synonyms=IEi-IXi; IsoId=Q14934-13; Sequence=VSP_036699, VSP_036705; Note=Due to an intron retention; Name=14; Synonyms=IC-IXS; IsoId=Q14934-14; Sequence=VSP_036702, VSP_036704; Name=15; Synonyms=IB-IXS; IsoId=Q14934-15; Sequence=VSP_036703, VSP_036704; Name=16; Synonyms=ID-IXS; IsoId=Q14934-16; Sequence=VSP_036704; Name=17; Synonyms=IE-IXS; IsoId=Q14934-17; Sequence=VSP_036700, VSP_036704; Name=18; Synonyms=IEi-IXS; IsoId=Q14934-18; Sequence=VSP_036699, VSP_036704; Note=Due to an intron retention; Name=19; Synonyms=IV-IXL; IsoId=Q14934-19; Sequence=VSP_036698; Name=20; Synonyms=IV-IXi; IsoId=Q14934-20; Sequence=VSP_036698, VSP_036705; Note=Due to an intron retention; Name=21; Synonyms=IV-IXS; IsoId=Q14934-21; Sequence=VSP_036698, VSP_036704; Name=22; Synonyms=VI-IXL; IsoId=Q14934-22; Sequence=VSP_036697; Name=23; Synonyms=VI-IXi; IsoId=Q14934-23; Sequence=VSP_036697, VSP_036705; Note=Due to an intron retention; Name=24; Synonyms=VI-IXS; IsoId=Q14934-24; Sequence=VSP_036697, VSP_036704; Highly expressed in placenta, lung, kidney, testis and ovary. Weakly expressed in spleen and thymus. Not expressed in peripheral blood lymphocytes. Detected in hippocampus. Rel Similarity Domain (RSD) allows DNA-binding and cooperative interactions with AP1 factors (By similarity). Phosphorylated by NFATC-kinases; dephosphorylated by calcineurin. Phosphorylated on Ser-168 and Ser-170 by MTOR, IRAK1, MAPK7 and MAPK14, on Ser-213 and Ser-217 by MAPK8 and MAPK9, and on Ser-289 and Ser-344 by RPS6KA3. Phosphorylated by GSK3B. Ubiquitinated, leading to its degradation by the proteasome and reduced transcriptional activity. Ubiquitination and reduction in transcriptional activity can be further facilitated through GSK3B-dependent phosphorylation. Polyubiquitin linkage is mainly through 'Lys-48'. Contains 1 IPT/TIG domain. Contains 1 RHD (Rel-like) domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding branching involved in blood vessel morphogenesis cytokine production DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity protein binding nucleus transcription factor complex cytoplasm cytosol regulation of transcription, DNA-templated transcription from RNA polymerase II promoter inflammatory response multicellular organism development heart development long-term memory transcription factor binding intrinsic apoptotic signaling pathway in response to DNA damage nuclear speck cell differentiation negative regulation of Wnt signaling pathway brain-derived neurotrophic factor receptor signaling pathway negative regulation of protein binding positive regulation of tumor necrosis factor production calcineurin-NFAT signaling cascade cellular response to UV negative regulation of chromatin binding peroxisome proliferator activated receptor binding positive regulation of apoptotic process negative regulation of neuron apoptotic process nuclear transcription factor complex cellular respiration positive regulation of transcription from RNA polymerase II promoter regulation of synaptic plasticity negative regulation of dendrite morphogenesis smooth muscle cell differentiation muscle cell development long-term synaptic potentiation cellular response to lithium ion negative regulation of pri-miRNA transcription from RNA polymerase II promoter cellular response to ionomycin negative regulation of synapse maturation positive regulation of apoptotic signaling pathway uc001wpc.1 uc001wpc.2 uc001wpc.3 uc001wpc.4 uc001wpc.5 uc001wpc.6 
ENST00000250378.7 CMA1 ENST00000250378.7 Homo sapiens chymase 1 (CMA1), transcript variant 1, mRNA. (from RefSeq NM_001836) B5BUM8 CMA1_HUMAN CYH CYM ENST00000250378.1 ENST00000250378.2 ENST00000250378.3 ENST00000250378.4 ENST00000250378.5 ENST00000250378.6 NM_001836 P23946 Q16018 Q3SY36 Q9UDH5 uc001wpp.1 uc001wpp.2 This gene encodes a chymotryptic serine proteinase that belongs to the peptidase family S1. It is expressed in mast cells and is thought to function in the degradation of the extracellular matrix, the regulation of submucosal gland secretion, and the generation of vasoactive peptides. In the heart and blood vessels, this protein, rather than angiotensin converting enzyme, is largely responsible for converting angiotensin I to the vasoactive peptide angiotensin II. Alternative splicing results in multiple variants. [provided by RefSeq, Apr 2015]. Major secreted protease of mast cells with suspected roles in vasoactive peptide generation, extracellular matrix degradation, and regulation of gland secretion. Preferential cleavage: Phe-|-Xaa > Tyr-|-Xaa > Trp-|-Xaa > Leu-|-Xaa. Secreted. Cytoplasmic granule. Note=Mast cell granules. Mast cells in lung, heart, skin and placenta. Expressed in both normal skin and in urticaria pigmentosa lesions. Belongs to the peptidase S1 family. Granzyme subfamily. Contains 1 peptidase S1 domain. angiotensin maturation serine-type endopeptidase activity extracellular region extracellular space cytoplasm proteolysis peptide metabolic process peptidase activity serine-type peptidase activity hydrolase activity extracellular matrix disassembly secretory granule midbrain development basement membrane disassembly peptide binding positive regulation of angiogenesis interleukin-1 beta biosynthetic process regulation of inflammatory response cellular response to glucose stimulus uc001wpp.1 uc001wpp.2 
ENST00000250383.11 DHRS2 ENST00000250383.11 Homo sapiens dehydrogenase/reductase 2 (DHRS2), transcript variant 2, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_005794) DHRS2_HUMAN ENST00000250383.1 ENST00000250383.10 ENST00000250383.2 ENST00000250383.3 ENST00000250383.4 ENST00000250383.5 ENST00000250383.6 ENST00000250383.7 ENST00000250383.8 ENST00000250383.9 NM_005794 Q13268 Q53GS4 Q7Z789 Q9H2R2 uc001wku.1 uc001wku.2 uc001wku.3 uc001wku.4 uc001wku.5 uc001wku.6 This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members of this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. Alternative promoter use and alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]. Displays NADPH-dependent dicarbonyl reductase activity in vitro with 3,4-Hexanedione, 2,3-Heptanedione and 1-Phenyl-1,2- propanedione as substrates. No reductase activity is displayed in vitro with steroids, retinoids and sugars as substrates. May inhibit cell replication. Kinetic parameters: KM=0.3 mM for 1-Phenyl-1,2-propanedione; KM=1.1 mM for 2,3-Heptanedione; KM=0.8 mM for 3,4-Hexanedione; Vmax=0.52 mmol/min/mg enzyme with 1-Phenyl-1,2-propanedione as substrate; Vmax=0.64 mmol/min/mg enzyme with 2,3-Heptanedione as substrate; Vmax=0.35 mmol/min/mg enzyme with 3,4-Hexanedione as substrate; Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q13268-1; Sequence=Displayed; Name=2; IsoId=Q13268-2; Sequence=VSP_038179; Belongs to the short-chain dehydrogenases/reductases (SDR) family. Sequence=AAA82048.1; Type=Erroneous initiation; Sequence=AAG33703.1; Type=Erroneous initiation; Sequence=AAH07339.2; Type=Erroneous initiation; Sequence=BAD96577.1; Type=Erroneous initiation; carbonyl reductase (NADPH) activity protein binding nucleus nuclear envelope cytoplasm mitochondrion mitochondrial matrix C21-steroid hormone metabolic process negative regulation of cell proliferation response to toxic substance oxidoreductase activity cellular response to oxidative stress myeloid dendritic cell differentiation negative regulation of apoptotic process oxidation-reduction process uc001wku.1 uc001wku.2 uc001wku.3 uc001wku.4 uc001wku.5 uc001wku.6 
ENST00000250448.5 FOXA1 ENST00000250448.5 Homo sapiens forkhead box A1 (FOXA1), mRNA. (from RefSeq NM_004496) B2R9H6 ENST00000250448.1 ENST00000250448.2 ENST00000250448.3 ENST00000250448.4 FOXA1_HUMAN HNF3A NM_004496 P55317 Q9H2A0 TCF3A uc001wuf.1 uc001wuf.2 uc001wuf.3 uc001wuf.4 uc001wuf.5 uc001wuf.6 uc001wuf.7 This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. [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 :: BC033890.1, SRR7346977.1217667.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000250448.5/ ENSP00000250448.3 RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## Transcription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues. Is thought to act as a 'pioneer' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites. Binds DNA with the consensus sequence 5'-[AC]A[AT]T[AG]TT[GT][AG][CT]T[CT]-3' (By similarity). Proposed to play a role in translating the epigenetic signatures into cell type-specific enhancer-driven transcriptional programs. Its differential recruitment to chromatin is dependent on distribution of histone H3 methylated at 'Lys-5' (H3K4me2) in estrogen-regulated genes. Involved in the development of multiple endoderm-derived organ systems such as liver, pancreas, lung and prostate; FOXA1 and FOXA2 seem to have at least in part redundant roles (By similarity). Modulates the transcriptional activity of nuclear hormone receptors. Is involved in ESR1-mediated transcription; required for ESR1 binding to the NKX2-1 promoter in breast cancer cells; binds to the RPRM promter and is required for the estrogen-induced repression of RPRM. Involved in regulation of apoptosis by inhibiting the expression of BCL2. Involved in cell cycle regulation by activating expression of CDKN1B, alone or in conjunction with BRCA1. Originally described as a transcription activator for a number of liver genes such as AFP, albumin, tyrosine aminotransferase, PEPCK, etc. Interacts with the cis- acting regulatory regions of these genes. Involved in glucose homeostasis. Binds DNA as a monomer (By similarity). Interacts with FOXA2. Interacts with NKX2-1. Interacts with HDAC7. Interacts with the histone H3-H4 heterodimer. Associates with nucleosomes containing histone H2A. Interacts with AR. Interacts with NR0B2 (By similarity). Nucleus. Highly expressed in prostate and ESR1-positive breast tumors. Overexpressed in esophageal and lung adenocarcinomas. Contains 1 fork-head DNA-binding domain. Name=Wikipedia; Note=Hepatocyte nuclear factors entry; URL="http://en.wikipedia.org/wiki/Hepatocyte_nuclear_factors"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin 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 chromatin binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm microvillus chromatin organization chromatin remodeling regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter Notch signaling pathway multicellular organism development transcription factor binding anatomical structure morphogenesis regulation of gene expression negative regulation of epithelial to mesenchymal transition protein domain specific binding dorsal/ventral neural tube patterning cell differentiation lung development response to estradiol positive regulation of intracellular estrogen receptor signaling pathway tube morphogenesis hormone metabolic process glucose homeostasis positive regulation of apoptotic process sequence-specific DNA binding transcription regulatory region DNA binding positive regulation of neuron differentiation positive regulation of smoothened signaling pathway positive regulation of mitotic cell cycle positive regulation of transcription from RNA polymerase II promoter anatomical structure formation involved in morphogenesis neuron fate specification positive regulation of sequence-specific DNA binding transcription factor activity regulation of cell cycle lung morphogenesis epithelial tube branching involved in lung morphogenesis lung epithelial cell differentiation secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development epithelial-mesenchymal signaling involved in prostate gland development prostate gland epithelium morphogenesis prostate gland stromal morphogenesis epithelial cell maturation involved in prostate gland development alveolar secondary septum development connective tissue development dopaminergic neuron differentiation respiratory basal cell differentiation positive regulation of cell-cell adhesion mediated by cadherin uc001wuf.1 uc001wuf.2 uc001wuf.3 uc001wuf.4 uc001wuf.5 uc001wuf.6 uc001wuf.7 
ENST00000250454.8 EAPP ENST00000250454.8 Homo sapiens E2F associated phosphoprotein (EAPP), transcript variant 1, mRNA. (from RefSeq NM_018453) BM-036 C14orf11 EAPP_HUMAN ENST00000250454.1 ENST00000250454.2 ENST00000250454.3 ENST00000250454.4 ENST00000250454.5 ENST00000250454.6 ENST00000250454.7 NM_018453 Q56P03 Q9BVF4 Q9NWV5 Q9NZ86 uc001wsd.1 uc001wsd.2 uc001wsd.3 This gene encodes a phosphoprotein that interacts with several members of the E2F family of proteins. The protein localizes to the nucleus, and is present throughout the cell cycle except during mitosis. It functions to modulate E2F-regulated transcription and stimulate proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. May play an important role in the fine-tuning of both major E2F1 activities, the regulation of the cell-cycle and the induction of apoptosis. Promotes S-phase entry, and inhibits p14(ARP) expression. Interacts with E2F1. The C-terminal half binds the N- terminal of E2F1. Also interacts with E2F2 and E2F3, but not E2F4. Cytoplasm. Nucleus. Ubiquitously expressed. Highest levels in heart, placenta, skeletal muscle and pancreas. Lower levels in brain, lung and kidney. In the brain, expressed in all regions with high levels in the cerebellum and cerebral cortex. Expressed in COS1 and transformed skin fibroblasts. During the cell cycle, expression disappears during mitosis. Sequence=AAF67623.1; Type=Frameshift; Positions=178, 189, 198, 226; Sequence=AAO17041.1; Type=Frameshift; Positions=178, 189, 198, 226; Sequence=AAO17042.1; Type=Frameshift; Positions=178, 189, 198, 226; nucleus cytoplasm positive regulation of cell proliferation positive regulation of transcription elongation from RNA polymerase II promoter negative regulation of transcription elongation from RNA polymerase II promoter uc001wsd.1 uc001wsd.2 uc001wsd.3 
ENST00000250457.9 EGLN3 ENST00000250457.9 Homo sapiens egl-9 family hypoxia inducible factor 3 (EGLN3), transcript variant 1, mRNA. (from RefSeq NM_022073) EGLN3_HUMAN ENST00000250457.1 ENST00000250457.2 ENST00000250457.3 ENST00000250457.4 ENST00000250457.5 ENST00000250457.6 ENST00000250457.7 ENST00000250457.8 NM_022073 Q2TA79 Q3B8N4 Q6P1R2 Q9H6Z9 uc001wsa.1 uc001wsa.2 uc001wsa.3 uc001wsa.4 uc001wsa.5 uc001wsa.6 uc001wsa.7 Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF2A. Hydroxylation on the NODD site by EGLN3 appears to require prior hydroxylation on the CODD site. Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions, the hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes. EGLN3 is the most important isozyme in limiting physiological activation of HIFs (particularly HIF2A) in hypoxia. Also hydroxylates PKM in hypoxia, limiting glycolysis. Under normoxia, hydroxylates and regulates the stability of ADRB2. Regulator of cardiomyocyte and neuronal apoptosis. In cardiomyocytes, inhibits the anti-apoptotic effect of BCL2 by disrupting the BAX-BCL2 complex. In neurons, has a NGF-induced proapoptotic effect, probably through regulating CASP3 activity. Also essential for hypoxic regulation of neutrophilic inflammation. Hypoxia-inducible factor-L-proline + 2- oxoglutarate + O(2) = hypoxia-inducible factor-trans-4-hydroxy-L- proline + succinate + CO(2). Binds 1 Fe(2+) ion per subunit. Ascorbate. Activated in cardiovascular cells and Hela cells following exposure to hypoxia. Inhibited by polynitrogen compounds probably by chelation to Fe(2+) ions. Interacts with WDR83; the interaction leads to almost complete elimination of HIF-mediated reporter activity (By similarity). Interacts with BCL2 (via its BH4 domain); the interaction disrupts the BAX-BCL4 complex inhibiting the anti- apoptotic activity of BCL2. Interacts with ADRB2; the interaction hydroxylates ADRB2 facilitating its ubiquitination by the VHL-E3 ligase complex. Interacts with PAX2; the interaction targets PAX2 for destruction. Interacts with PKM; the interaction hydroxylates PKM in hypoxia. P14618-1:PKM; NbExp=2; IntAct=EBI-1175354, EBI-4304679; Nucleus. Cytoplasm. Note=Colocalizes with WDR83 in the cytoplasm (By similarity). Widely expressed at low levels. Expressed at higher levels in adult heart (cardiac myocytes, aortic endothelial cells and coronary artery smooth muscle), lung and placenta, and in fetal spleen, heart and skeletal muscle. Also expressed in pancreas. Localized to pancreatic acini and islet cells. Induced by hypoxia in a number of cells including neutrophils and certain cancer cell lines. Up-regulated 10-fold in pancreatic cancers. The Beta(2)beta(3) 'finger-like' loop domain is important for substrate (HIFs' CODD/NODD) selectivity. Contains 1 Fe2OG dioxygenase domain. response to hypoxia iron ion binding protein binding nucleus nucleoplasm cytoplasm cytosol apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process cellular response to DNA damage stimulus 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, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors protein hydroxylation peptidyl-proline hydroxylation to 4-hydroxy-L-proline L-ascorbic acid binding peptidyl-proline 4-dioxygenase activity regulation of cell proliferation regulation of neuron apoptotic process metal ion binding dioxygenase activity oxidation-reduction process regulation of transcription from RNA polymerase II promoter in response to hypoxia uc001wsa.1 uc001wsa.2 uc001wsa.3 uc001wsa.4 uc001wsa.5 uc001wsa.6 uc001wsa.7 
ENST00000250495.10 NEDD8 ENST00000250495.10 Homo sapiens NEDD8 ubiquitin like modifier (NEDD8), mRNA. (from RefSeq NM_006156) ENST00000250495.1 ENST00000250495.2 ENST00000250495.3 ENST00000250495.4 ENST00000250495.5 ENST00000250495.6 ENST00000250495.7 ENST00000250495.8 ENST00000250495.9 NEDD8_HUMAN NM_006156 Q15843 Q3SXN8 Q6LES6 uc001wnn.1 uc001wnn.2 uc001wnn.3 uc001wnn.4 Ubiquitin-like protein which plays an important role in cell cycle control and embryogenesis. Covalent attachment to its substrates requires prior activation by the E1 complex UBE1C- APPBP1 and linkage to the E2 enzyme UBE2M. Attachment of NEDD8 to cullins activates their associated E3 ubiquitin ligase activity, and thus promotes polyubiquitination and proteasomal degradation of cyclins and other regulatory proteins. Directly interacts with NUB1 and AHR. Covalently attached to cullins and p53. Nucleus. Note=Mainly nuclear. Highly expressed in heart, skeletal muscle, spleen, thymus, prostate, testis, ovary, colon and leukocytes. Cleavage of precursor form by UCHL3 or SENP8 is necessary for function. Belongs to the ubiquitin family. protein binding nucleus nucleoplasm cytoplasm cytosol regulation of transcription from RNA polymerase II promoter cellular protein modification process proteolysis ubiquitin-dependent protein catabolic process cellular iron ion homeostasis protein localization anatomical structure morphogenesis response to organic cyclic compound protein ubiquitination protein deubiquitination modification-dependent protein catabolic process regulation of proteolysis protein tag ubiquitin protein ligase binding post-translational protein modification protein neddylation extracellular exosome uc001wnn.1 uc001wnn.2 uc001wnn.3 uc001wnn.4 
ENST00000250498.9 DAD1 ENST00000250498.9 Homo sapiens defender against cell death 1 (DAD1), mRNA. (from RefSeq NM_001344) D3DS25 DAD1_HUMAN ENST00000250498.1 ENST00000250498.2 ENST00000250498.3 ENST00000250498.4 ENST00000250498.5 ENST00000250498.6 ENST00000250498.7 ENST00000250498.8 NM_001344 O08552 O70364 P46966 P46968 P61803 Q6FGA3 Q96GB7 uc001wgl.1 uc001wgl.2 uc001wgl.3 uc001wgl.4 DAD1, the defender against apoptotic cell death, was initially identified as a negative regulator of programmed cell death in the temperature sensitive tsBN7 cell line. The DAD1 protein disappeared in temperature-sensitive cells following a shift to the nonpermissive temperature, suggesting that loss of the DAD1 protein triggered apoptosis. DAD1 is believed to be a tightly associated subunit of oligosaccharyltransferase both in the intact membrane and in the purified enzyme, thus reflecting the essential nature of N-linked glycosylation in eukaryotes. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK223129.1, SRR5189655.198726.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142586, SAMEA2142853 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000250498.9/ ENSP00000250498.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Component of the N-oligosaccharyl transferase enzyme which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). Loss of the DAD1 protein triggers apoptosis (By similarity). Dolichyl diphosphooligosaccharide + protein L- asparagine = dolichyl diphosphate + a glycoprotein with the oligosaccharide chain attached by N-glycosyl linkage to protein L- asparagine. Component of the oligosaccharyltransferase (OST) complex. OST seems to exist in different forms which contain at least RPN1, RPN2, OST48, DAD1, OSTC, KRTCAP2 and either STT3A or STT3B. OST can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes (By similarity). Membrane; Multi-pass membrane protein (Potential). Belongs to the DAD/OST2 family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/dad1/"; blastocyst development dolichyl-diphosphooligosaccharide-protein glycotransferase activity endoplasmic reticulum endoplasmic reticulum membrane protein glycosylation protein N-linked glycosylation apoptotic process response to nutrient oligosaccharyltransferase complex membrane integral component of membrane protein N-linked glycosylation via asparagine response to drug negative regulation of apoptotic process oligosaccharyl transferase activity uc001wgl.1 uc001wgl.2 uc001wgl.3 uc001wgl.4 
ENST00000250535.5 CDO1 ENST00000250535.5 Homo sapiens cysteine dioxygenase type 1 (CDO1), transcript variant 7, non-coding RNA. (from RefSeq NR_136620) B2RAK4 CDO1_HUMAN ENST00000250535.1 ENST00000250535.2 ENST00000250535.3 ENST00000250535.4 NR_136620 P78513 Q16878 Q6FHZ8 Q8TB64 uc003krg.1 uc003krg.2 uc003krg.3 uc003krg.4 uc003krg.5 Initiates several important metabolic pathways related to pyruvate and several sulfurate compounds including sulfate, hypotaurine and taurine. Critical regulator of cellular cysteine concentrations. Has an important role in maintaining the hepatic concentation of intracellular free cysteine within a proper narrow range. L-cysteine + O(2) = 3-sulfinoalanine. Binds 1 iron ion per subunit. Zinc to a much lesser extent. Organosulfur biosynthesis; taurine biosynthesis; hypotaurine from L-cysteine: step 1/2. Monomer. Highly expressed in liver and placenta. Low expression in heart, brain and pancreas. Also detected in hepatoblastoma Hep-G2 cells. In hepatoblastoma Hep-G2 cells, down-regulated by phorbol 12-myristate 13-acetate (PMA). The thioether cross-link between Cys-93 and Tyr-157 plays a structural role through stabilizing the Fe(2+) ion, and prevents the production of highly damaging free hydroxyl radicals by holding the oxygen radical via hydroxyl hydrogen. Belongs to the cysteine dioxygenase family. sulfur amino acid biosynthetic process iron ion binding cytosol cysteine metabolic process inflammatory response lactation ferrous iron binding response to organonitrogen compound oxidoreductase activity oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen cysteine dioxygenase activity L-cysteine catabolic process response to glucagon taurine biosynthetic process response to amino acid response to ethanol metal ion binding dioxygenase activity response to glucocorticoid response to cAMP oxidation-reduction process uc003krg.1 uc003krg.2 uc003krg.3 uc003krg.4 uc003krg.5 
ENST00000250559.14 RAP1B ENST00000250559.14 Homo sapiens RAP1B, member of RAS oncogene family (RAP1B), transcript variant 1, mRNA. (from RefSeq NM_015646) B2R5Z2 ENST00000250559.1 ENST00000250559.10 ENST00000250559.11 ENST00000250559.12 ENST00000250559.13 ENST00000250559.2 ENST00000250559.3 ENST00000250559.4 ENST00000250559.5 ENST00000250559.6 ENST00000250559.7 ENST00000250559.8 ENST00000250559.9 NM_015646 OK/SW-cl.11 P09526 P61224 Q502X3 Q5TZR4 Q6DCA1 Q6LES0 RAP1B_HUMAN uc001suc.1 uc001suc.2 uc001suc.3 uc001suc.4 uc001suc.5 uc001suc.6 This gene encodes a member of the RAS-like small GTP-binding protein superfamily. Members of this family regulate multiple cellular processes including cell adhesion and growth and differentiation. This protein localizes to cellular membranes and has been shown to regulate integrin-mediated cell signaling. This protein also plays a role in regulating outside-in signaling in platelets. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 5, 6 and 9. [provided by RefSeq, Oct 2011]. GTP-binding protein that possesses intrinsic GTPase activity. Contributes to the polarizing activity of KRIT1 and CDH5 in the establishment and maintenance of correct endothelial cell polarity and vascular lumen. Required for the localization of phosphorylated PRKCZ, PARD3 and TIAM1 to the cell junction. Activated by binding to the GTPase-activating protein RAP1GAP. Activated by guanine nucleotide-exchange factor (GEF) EPAC2 in a cAMP-dependent manner. Heterodimer with RAP1GAP. Interacts with EPAC2, SGSM1, SGSM2 and SGSM3. Interacts with KRIT1. Cell membrane. Cytoplasm, cytosol. Cell junction. Note=May shuttle between plasma membrane and cytosol. Presence of KRIT1 and CDH5 is required for its localization to the cell junction. Belongs to the small GTPase superfamily. Ras family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/RAP1BID273.html"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/rap1b/"; nucleotide binding GTPase activity protein binding GTP binding intracellular cytoplasm lipid particle cytosol plasma membrane cell-cell junction signal transduction small GTPase mediated signal transduction cell proliferation response to carbohydrate membrane GDP binding cell junction Rap protein signal transduction positive regulation of integrin activation azurophil granule membrane cellular response to drug interleukin-12-mediated signaling pathway neutrophil degranulation macromolecular complex binding negative regulation of calcium ion-dependent exocytosis establishment of endothelial barrier extracellular exosome positive regulation of ERK1 and ERK2 cascade cellular response to cAMP cellular response to organic cyclic compound cellular response to gonadotropin-releasing hormone regulation of cell junction assembly regulation of establishment of cell polarity negative regulation of synaptic vesicle exocytosis microvillus assembly membrane raft uc001suc.1 uc001suc.2 uc001suc.3 uc001suc.4 uc001suc.5 uc001suc.6 
ENST00000250617.7 ARHGEF6 ENST00000250617.7 Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor 6 (ARHGEF6), transcript variant 1, mRNA. (from RefSeq NM_004840) A6NMW9 A8K6S7 ARHG6_HUMAN B1AL37 COOL2 ENST00000250617.1 ENST00000250617.2 ENST00000250617.3 ENST00000250617.4 ENST00000250617.5 ENST00000250617.6 KIAA0006 NM_004840 PIXA Q15052 Q15396 Q5JQ66 Q7Z3W1 Q86XH0 uc004fab.1 uc004fab.2 uc004fab.3 uc004fab.4 uc004fab.5 uc004fab.6 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific cognitive disability. [provided by RefSeq, Jul 2008]. Acts as a RAC1 guanine nucleotide exchange factor (GEF). Interacts with PAK kinases through the SH3 domain. Interacts with GIT1. Component of cytoplasmic complexes, which also contain PXN, GIT1 and PAK1 (By similarity). P41227:NAA10; NbExp=3; IntAct=EBI-1642523, EBI-747693; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q15052-1; Sequence=Displayed; Name=2; IsoId=Q15052-2; Sequence=VSP_015782; Ubiquitous. Defects in ARHGEF6 are the cause of mental retardation X- linked type 46 (MRX46) [MIM:300436]. Mental retardation is a mental disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non- syndromic mental retardation patients do not manifest other clinical signs. Contains 1 CH (calponin-homology) domain. Contains 1 DH (DBL-homology) domain. Contains 1 PH domain. Contains 1 SH3 domain. Sequence=BAA02796.1; Type=Erroneous initiation; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ARHGEF6"; guanyl-nucleotide exchange factor activity Rho guanyl-nucleotide exchange factor activity GTPase activator activity protein binding cytosol apoptotic process G-protein coupled receptor signaling pathway JNK cascade lamellipodium lamellipodium assembly regulation of Rho protein signal transduction cell projection positive regulation of apoptotic process positive regulation of GTPase activity regulation of small GTPase mediated signal transduction uc004fab.1 uc004fab.2 uc004fab.3 uc004fab.4 uc004fab.5 uc004fab.6 
ENST00000250693.2 ART1 ENST00000250693.2 Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA. (from RefSeq NM_004314) ENST00000250693.1 NAR1_HUMAN NM_004314 P52961 Q6NTD2 Q96KT9 uc001lye.1 uc001lye.2 ADP-ribosyltransferase catalyzes the ADP-ribosylation of arginine residues in proteins. Mono-ADP-ribosylation is a posttranslational modification of proteins that is interfered with by a variety of bacterial toxins including cholera, pertussis, and heat-labile enterotoxins of E. coli. The amino acid sequence consists of predominantly hydrophobic N- and C-terminal regions, which is characteristic of glycosylphosphatidylinositol (GPI)-anchored proteins. This gene was previously designated ART2. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC069102.1, S74683.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2158800, SAMN03465413 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000250693.2/ ENSP00000250693.1 RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## Has ADP-ribosyltransferase activity toward GLP1R. NAD(+) + protein-L-arginine = nicotinamide + N(omega)-(ADP-D-ribosyl)-protein-L-arginine. NADP(+) + protein-L-arginine = nicotinamide + N(omega)-((2'-phospho-ADP)-D-ribosyl)-protein-L-arginine. Sarcoplasmic reticulum membrane; Lipid- anchor, GPI-anchor. Belongs to the Arg-specific ADP-ribosyltransferase family. NAD+ ADP-ribosyltransferase activity NAD(P)+-protein-arginine ADP-ribosyltransferase activity plasma membrane protein ADP-ribosylation cell surface membrane sarcoplasmic reticulum transferase activity transferase activity, transferring glycosyl groups peptidyl-arginine ADP-ribosylation anchored component of membrane sarcoplasmic reticulum membrane uc001lye.1 uc001lye.2 
ENST00000250699.2 CHRNA10 ENST00000250699.2 Homo sapiens cholinergic receptor nicotinic alpha 10 subunit (CHRNA10), transcript variant 1, mRNA. (from RefSeq NM_020402) ACH10_HUMAN ENST00000250699.1 NACHRA10 NM_020402 Q9GZZ6 uc001lyf.1 uc001lyf.2 uc001lyf.3 Ionotropic receptor with a probable role in the modulation of auditory stimuli. Agonist binding may induce an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. The channel is permeable to a range of divalent cations including calcium, the influx of which may activate a potassium current which hyperpolarizes the cell membrane. In the ear, this may lead to a reduction in basilar membrane motion, altering the activity of auditory nerve fibers and reducing the range of dynamic hearing. This may protect against acoustic trauma. Forms heterooligomeric channels in conjunction with CHRNA9. The native outer hair cell receptor may be composed of CHRNA9-CHRNA10 heterooligomers. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein (Probable). Cell membrane; Multi-pass membrane protein (Probable). Expressed in inner-ear tissue, tonsil, immortalized B-cells, cultured T-cells and peripheral blood lymphocytes. The heterooligomeric receptor composed of CHRNA9 and CHRNA10 has an atypical pharmacological profile, binding several non-nicotinic ligands including strychnine (a glycine receptor antagonist) and atropine (a muscarinic acetylcholine receptor antagonist). Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha- 10/CHRNA10 sub-subfamily. transmembrane signaling receptor activity receptor binding ion channel activity extracellular ligand-gated ion channel activity calcium channel activity plasma membrane integral component of plasma membrane ion transport calcium ion transport signal transduction positive regulation of cytosolic calcium ion concentration chemical synaptic transmission synaptic transmission, cholinergic membrane integral component of membrane acetylcholine-gated cation-selective channel activity cell junction axon ion transmembrane transport regulation of cell proliferation regulation of membrane potential inner ear morphogenesis neuron projection perikaryon synapse postsynaptic membrane neurological system process detection of mechanical stimulus involved in sensory perception of sound regulation of postsynaptic membrane potential excitatory postsynaptic potential negative regulation of ERK1 and ERK2 cascade calcium ion transmembrane transport cholinergic synapse integral component of postsynaptic specialization membrane transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential uc001lyf.1 uc001lyf.2 uc001lyf.3 
ENST00000250776.5 TTTY1B ENST00000250776.5 Homo sapiens testis-specific transcript, Y-linked 1B (TTTY1B), long non-coding RNA. (from RefSeq NR_003589) ENST00000250776.1 ENST00000250776.2 ENST00000250776.3 ENST00000250776.4 NR_003589 uc004fqt.1 uc004fqt.2 uc004fqt.3 uc004fqt.1 uc004fqt.2 uc004fqt.3 
ENST00000250784.13 RPS4Y1 ENST00000250784.13 Homo sapiens ribosomal protein S4 Y-linked 1 (RPS4Y1), mRNA. (from RefSeq NM_001008) A8K9V4 ENST00000250784.1 ENST00000250784.10 ENST00000250784.11 ENST00000250784.12 ENST00000250784.2 ENST00000250784.3 ENST00000250784.4 ENST00000250784.5 ENST00000250784.6 ENST00000250784.7 ENST00000250784.8 ENST00000250784.9 NM_001008 P22090 PRO2646 RPS4Y RS4Y1_HUMAN uc004fqi.1 uc004fqi.2 uc004fqi.3 uc004fqi.4 uc004fqi.5 Cytoplasmic ribosomes, 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 ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, X-linked (RPS4X). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. 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 :: SRR1803617.90032.1, SRR5189667.397489.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968832 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000250784.13/ ENSP00000250784.7 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Belongs to the ribosomal protein S4e family. Contains 1 S4 RNA-binding domain. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay RNA binding structural constituent of ribosome nucleus nucleoplasm cytosol ribosome polysome translation translational initiation SRP-dependent cotranslational protein targeting to membrane multicellular organism development membrane viral transcription rRNA binding cytosolic small ribosomal subunit uc004fqi.1 uc004fqi.2 uc004fqi.3 uc004fqi.4 uc004fqi.5 
ENST00000250805.5 TTTY1 ENST00000250805.5 Homo sapiens testis-specific transcript, Y-linked 1 (TTTY1), long non-coding RNA. (from RefSeq NR_001538) ENST00000250805.1 ENST00000250805.2 ENST00000250805.3 ENST00000250805.4 NR_001538 uc004fsm.1 uc004fsm.2 uc004fsm.3 uc004fsm.1 uc004fsm.2 uc004fsm.3 
ENST00000250823.5 VCY1B ENST00000250823.5 Homo sapiens variable charge Y-linked 1B (VCY1B), mRNA. (from RefSeq NM_181880) BPY1 BPY1B ENST00000250823.1 ENST00000250823.2 ENST00000250823.3 ENST00000250823.4 NM_181880 O14598 VCY VCY1A VCY1_HUMAN uc004ftd.1 uc004ftd.2 uc004ftd.3 uc004ftd.4 uc004ftd.5 The protein encoded by this gene is a member of a family of human VCX/Y genes. This gene family has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. Members of the VCX/Y family share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. VCX/Y genes encode small and highly charged proteins of unknown function. This gene encodes a small, positively charged protein. The presence of a putative bipartite nuclear localization signal suggests that this gene encodes a nuclear protein. The genome has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BU595028.1, HY020717.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000250823.5/ ENSP00000250823.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May mediate a process in spermatogenesis or may play a role in sex ratio distortion. Expressed exclusively in testis. Belongs to the VCX/VCY family. brain development uc004ftd.1 uc004ftd.2 uc004ftd.3 uc004ftd.4 uc004ftd.5 
ENST00000250825.5 VCY ENST00000250825.5 Homo sapiens variable charge Y-linked (VCY), mRNA. (from RefSeq NM_004679) BPY1 BPY1B ENST00000250825.1 ENST00000250825.2 ENST00000250825.3 ENST00000250825.4 NM_004679 O14598 VCY1A VCY1B VCY1_HUMAN uc004ftc.1 uc004ftc.2 uc004ftc.3 uc004ftc.4 uc004ftc.5 The protein encoded by this gene is a member of a family of human VCX/Y genes. This gene family has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. Members of the VCX/Y family share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. VCX/Y genes encode small and highly charged proteins of unknown function. This gene encodes a small, positively charged protein. The presence of a putative bipartite nuclear localization signal suggests that this gene encodes a nuclear protein. The genome has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AF000979.1, HY190743.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2158188, SAMEA2161674 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May mediate a process in spermatogenesis or may play a role in sex ratio distortion. Expressed exclusively in testis. Belongs to the VCX/VCY family. brain development uc004ftc.1 uc004ftc.2 uc004ftc.3 uc004ftc.4 uc004ftc.5 
ENST00000250831.6 RBMY1J ENST00000250831.6 Homo sapiens RNA binding motif protein Y-linked family 1 member J (RBMY1J), mRNA. (from RefSeq NM_001006117) B2R916 ENST00000250831.1 ENST00000250831.2 ENST00000250831.3 ENST00000250831.4 ENST00000250831.5 NM_001006117 Q15415 RBMY1F RBY1F_HUMAN YRRM2 uc004fve.1 uc004fve.2 uc004fve.3 uc004fve.4 uc004fve.5 This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. This protein likely functions as a splicing factor during spermatogenesis. Multiple closely related paralogs of this gene are found in a gene cluster in the AZFb azoospermia factor region of chromosome Y. Most of these related copies are thought to be pseudogenes, though several likely encode functional proteins. [provided by RefSeq, Mar 2016]. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## RNA-binding protein which may be involved in spermatogenesis. Required for sperm development, possibly by participating in pre-mRNA splicing in the testis. Interacts with splicing factor proteins SFRS3/SRP20, TRA2B/SFRS10, KHDRBS1/SAM68 and KHDRBS3. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q15415-1; Sequence=Displayed; Name=2; IsoId=Q15415-2; Sequence=VSP_030217, VSP_030218; Testis-specific. Expressed in all of the transcriptionally active stages of germ cell development from spermatogonia through spermatocytes to round spermatids. The RBMY1 proteins are encoded by repeated regions of the Y chromosome, mostly within the AZFb region. The exact number of functional copies is unclear and may vary between individuals, and some of them may represent pseudogenes. The proteins are very similar, which makes the characterization of each protein difficult. Thus, most experiments do not discriminate between the different members. One can therefore suppose that reported interactions with a RBMY1 protein involve all the proteins. Contains 1 RRM (RNA recognition motif) domain. regulation of alternative mRNA splicing, via spliceosome nucleic acid binding RNA binding protein binding cellular_component nucleus mRNA processing spermatogenesis RNA splicing nuclear speck identical protein binding mRNA cis splicing, via spliceosome uc004fve.1 uc004fve.2 uc004fve.3 uc004fve.4 uc004fve.5 
ENST00000250838.6 CDY2A ENST00000250838.6 Homo sapiens chromodomain Y-linked 2A (CDY2A), mRNA. (from RefSeq NM_004825) A8K868 CDY2 CDY2B CDY2_HUMAN ENST00000250838.1 ENST00000250838.2 ENST00000250838.3 ENST00000250838.4 ENST00000250838.5 NM_004825 Q9Y6F7 uc004ftm.1 uc004ftm.2 uc004ftm.3 This intronless gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. Two nearly identical copies of this gene are found in a palindromic region on chromosome Y; this record represents the telomeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: AF080598.1, AK292233.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000250838.6/ ENSP00000250838.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May have histone acetyltransferase activity (By similarity). Acetyl-CoA + [histone] = CoA + acetyl- [histone]. Nucleus (By similarity). Testis specific. Contains 1 chromo domain. transcription corepressor activity catalytic activity histone acetyltransferase activity nucleus spermatogenesis histone acetylation transferase activity transferase activity, transferring acyl groups negative regulation of nucleic acid-templated transcription uc004ftm.1 uc004ftm.2 uc004ftm.3 
ENST00000250894.8 MAPK8IP3 ENST00000250894.8 Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA. (from RefSeq NM_015133) A2A2B3 A7E2B3 ENST00000250894.1 ENST00000250894.2 ENST00000250894.3 ENST00000250894.4 ENST00000250894.5 ENST00000250894.6 ENST00000250894.7 JIP3 JIP3_HUMAN KIAA1066 NM_015133 Q96RY4 Q9H4I4 Q9H7P1 Q9NUG0 Q9UPT6 uc002cmk.1 uc002cmk.2 uc002cmk.3 uc002cmk.4 The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]. The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. May function as a regulator of vesicle transport, through interactions with the JNK-signaling components and motor proteins (By similarity). Forms homo- or heterooligomeric complexes. The central region of MAPK8IP3 interacts with the C-terminal of MAPK8IP2 but not MAPK8IP1. Binds specific components of the JNK signaling pathway namely MAPK8/JNK1, MAPK9/JNK2 and MAPK10/JNK3 to the N- terminal region, MAP2K4/MKK4 and MAP2K7/MKK7 to the central region and MAP3K11 to the C-terminal region. Binds the TPR motif- containing C-terminal of kinesin light chain, KLC1. Pre-assembled MAPK8IP1 scaffolding complexes are then transported as a cargo of kinesin, to the required subcellular location (By similarity). Interacts with ROCK1 and this interaction is enhanced by ultraviolet-B (UVB) radiation. Cytoplasm (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UPT6-1; Sequence=Displayed; Name=2; IsoId=Q9UPT6-2; Sequence=VSP_024430, VSP_024431; Phosphorylated upon DNA damage, probably by ATM or ATR (By similarity). Phosphorylation by ROCK1 is crucial for the recruitment of JNK. Belongs to the JIP scaffold family. Sequence=AAK61290.1; Type=Erroneous gene model prediction; Sequence=BAA83018.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAB15727.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAB72318.1; Type=Erroneous gene model prediction; Golgi membrane MAP-kinase scaffold activity protein binding cytoplasm Golgi apparatus activation of JUN kinase activity JUN kinase binding vesicle-mediated transport kinesin binding receptor signaling complex scaffold activity axon dendrite growth cone axon regeneration cytoplasmic vesicle cell projection cell body regulation of JNK cascade perinuclear region of cytoplasm axon development anterograde axonal protein transport axon cytoplasm uc002cmk.1 uc002cmk.2 uc002cmk.3 uc002cmk.4 
ENST00000250896.9 MKNK2 ENST00000250896.9 Homo sapiens MAPK interacting serine/threonine kinase 2 (MKNK2), transcript variant 2, mRNA. (from RefSeq NM_199054) ENST00000250896.1 ENST00000250896.2 ENST00000250896.3 ENST00000250896.4 ENST00000250896.5 ENST00000250896.6 ENST00000250896.7 ENST00000250896.8 GPRK7 MKNK2_HUMAN MNK2 NM_199054 Q6GPI3 Q9HBH8 Q9HBH9 Q9UHR0 Q9Y2N6 uc002lus.1 uc002lus.2 uc002lus.3 uc002lus.4 uc002lus.5 This gene encodes a member of the calcium/calmodulin-dependent protein kinases (CAMK) Ser/Thr protein kinase family, which belongs to the protein kinase superfamily. This protein contains conserved DLG (asp-leu-gly) and ENIL (glu-asn-ile-leu) motifs, and an N-terminal polybasic region which binds importin A and the translation factor scaffold protein eukaryotic initiation factor 4G (eIF4G). This protein is one of the downstream kinases activated by mitogen-activated protein (MAP) kinases. It phosphorylates the eukaryotic initiation factor 4E (eIF4E), thus playing important roles in the initiation of mRNA translation, oncogenic transformation and malignant cell proliferation. In addition to eIF4E, this protein also interacts with von Hippel-Lindau tumor suppressor (VHL), ring-box 1 (Rbx1) and Cullin2 (Cul2), which are all components of the CBC(VHL) ubiquitin ligase E3 complex. Multiple alternatively spliced transcript variants have been found, but the full-length nature and biological activity of only two variants are determined. These two variants encode distinct isoforms which differ in activity and regulation, and in subcellular localization. [provided by RefSeq, Aug 2011]. Serine/threonine-protein kinase that phosphorylates SFPQ/PSF, HNRNPA1 and EIF4E. May play a role in the response to environmental stress and cytokines. Appears to regulate translation by phosphorylating EIF4E, thus increasing the affinity of this protein for the 7-methylguanosine-containing mRNA cap. Required for mediating PP2A-inhibition-induced EIF4E phosphorylation. Triggers EIF4E shuttling from cytoplasm to nucleus. Isoform 1 displays a high basal kinase activity, but isoform 2 exhibits a very low kinase activity. Acts as a mediator of the suppressive effects of IFNgamma on hematopoiesis. Negative regulator for signals that control generation of arsenic trioxide As(2)O(3)-dependent apoptosis and anti-leukemic responses. Involved in anti-apoptotic signaling in response to serum withdrawal. ATP + a protein = ADP + a phosphoprotein. Magnesium. Binds 1 zinc ion per subunit. Inhibited by CGP57380 and staurosporine. Activated by phosphorylation in a negative-feedback regulatory manner in response to chemotherapy (e.g. cytarabine) and thus impairs the generation of antileukemic responses. Monomer. Interacts with the C-terminal regions of EIF4G1 and EIF4G2; this interaction is promoted when MAPK pathways are repressed but repressed upon ERK proteins activation. Also binds to dephosphorylated MAPK3/ERK1 and MAPK1/ERK2. Isoform 1 interaction with phosphorylated MAPK3/ERK1 and MAPK1/ERK2 protects it from dephosphorylation and inactivation. Isoform 2 interacts with ESR2 and EIF4E in the nucleus. Isoform 2: Nucleus, PML body. Isoform 1: Cytoplasm. Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=2a; IsoId=Q9HBH9-1; Sequence=Displayed; Name=2; Synonyms=2b; IsoId=Q9HBH9-2; Sequence=VSP_007353, VSP_007354; Name=3; IsoId=Q9HBH9-3; Sequence=Not described; Name=4; IsoId=Q9HBH9-4; Sequence=Not described; Name=5; IsoId=Q9HBH9-5; Sequence=Not described; Ubiquitously expressed in all tissues examined. Isoform 2 is expressed at higher levels in the ovary than is isoform 1. Dual phosphorylation of Thr-244 and Thr-249 activates the kinase. Phosphorylation of Thr-379 activates the kinase. Phosphorylated upon arsenic trioxide As(2)O(3) treatment. Phosphorylated by MAPK1/ERK2, MAPK11 and MAPK14. Dephosphorylated by PP2A. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. Contains 1 protein kinase domain. nucleotide binding protein kinase activity protein serine/threonine kinase activity calmodulin-dependent protein kinase activity protein binding calmodulin binding ATP binding nucleus nucleoplasm cytoplasm regulation of translation protein phosphorylation apoptotic process cell surface receptor signaling pathway calcium-dependent protein serine/threonine kinase activity kinase activity phosphorylation nuclear body PML body transferase activity peptidyl-serine phosphorylation hemopoiesis intracellular signal transduction protein autophosphorylation metal ion binding cellular response to arsenic-containing substance extrinsic apoptotic signaling pathway in absence of ligand uc002lus.1 uc002lus.2 uc002lus.3 uc002lus.4 uc002lus.5 
ENST00000250916.6 KLF16 ENST00000250916.6 Homo sapiens Kruppel like factor 16 (KLF16), mRNA. (from RefSeq NM_031918) BTEB4 ENST00000250916.1 ENST00000250916.2 ENST00000250916.3 ENST00000250916.4 ENST00000250916.5 KLF16_HUMAN NM_031918 NSLP2 Q9BXK1 uc002luc.1 uc002luc.2 uc002luc.3 uc002luc.4 uc002luc.5 Transcription factor that binds GC and GT boxes and displaces Sp1 and Sp3 from these sequences. Modulates dopaminergic transmission in the brain (By similarity). Nucleus (By similarity). Belongs to the Sp1 C2H2-type zinc-finger protein family. Contains 3 C2H2-type zinc fingers. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription from RNA polymerase II promoter dopamine receptor signaling pathway metal ion binding uc002luc.1 uc002luc.2 uc002luc.3 uc002luc.4 uc002luc.5 
ENST00000250971.7 INS ENST00000250971.7 Homo sapiens insulin (INS), transcript variant 2, mRNA. (from RefSeq NM_001185097) ENST00000250971.1 ENST00000250971.2 ENST00000250971.3 ENST00000250971.4 ENST00000250971.5 ENST00000250971.6 INS_HUMAN NM_001185097 P01308 Q5EEX2 uc001lvn.1 uc001lvn.2 uc001lvn.3 This gene encodes insulin, a peptide hormone that plays a vital role in the regulation of carbohydrate and lipid metabolism. After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified, including insulin-dependent diabetes mellitus, permanent neonatal diabetes diabetes mellitus, maturity-onset diabetes of the young type 10 and hyperproinsulinemia. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. [provided by RefSeq, May 2020]. Insulin decreases blood glucose concentration. It increases cell permeability to monosaccharides, amino acids and fatty acids. It accelerates glycolysis, the pentose phosphate cycle, and glycogen synthesis in liver. Heterodimer of a B chain and an A chain linked by two disulfide bonds. Secreted. Defects in INS are the cause of familial hyperproinsulinemia (FHPRI) [MIM:176730]. Defects in INS are a cause of diabetes mellitus insulin- dependent type 2 (IDDM2) [MIM:125852]. IDDM2 is a multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical fetaures are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. Defects in INS are a cause of diabetes mellitus permanent neonatal (PNDM) [MIM:606176]. PNDM is a rare form of diabetes distinct from childhood-onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy. Defects in INS are a cause of maturity-onset diabetes of the young type 10 (MODY10) [MIM:613370]. MODY10 is a form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. Available under the names Humulin or Humalog (Eli Lilly) and Novolin (Novo Nordisk). Used in the treatment of diabetes. Humalog is an insulin analog with 52-Lys-Pro-53 instead of 52-Pro-Lys-53. Belongs to the insulin family. Sequence=AAA59179.1; Type=Erroneous gene model prediction; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/INS"; Name=Insulin at Eli Lilly; Note=Clinical information on Eli Lilly insulin products; URL="http://www.lillyDiabetes.com/Products/PatientInfo.cfm"; Name=Protein Spotlight; Note=Protein of the 20th century - Issue 9 of April 2001; URL="http://web.expasy.org/spotlight/back_issues/sptlt009.shtml"; Name=Wikipedia; Note=Insulin entry; URL="http://en.wikipedia.org/wiki/Insulin"; Golgi membrane protease binding negative regulation of acute inflammatory response insulin receptor binding insulin-like growth factor receptor binding hormone activity protein binding extracellular region extracellular space endoplasmic reticulum lumen Golgi lumen carbohydrate metabolic process glucose metabolic process regulation of transcription, DNA-templated regulation of cellular amino acid metabolic process ER to Golgi vesicle-mediated transport acute-phase response G-protein coupled receptor signaling pathway cell-cell signaling positive regulation of cell proliferation insulin receptor signaling pathway positive regulation of gene expression positive regulation of nitric oxide mediated signal transduction positive regulation of phosphatidylinositol 3-kinase signaling regulation of transmembrane transporter activity transport vesicle positive regulation of cell growth positive regulation of cell migration endosome lumen positive regulation of protein autophosphorylation activation of protein kinase B activity positive regulation of cellular protein metabolic process negative regulation of protein oligomerization regulation of protein localization endoplasmic reticulum-Golgi intermediate compartment membrane negative regulation of NAD(P)H oxidase activity secretory granule lumen wound healing negative regulation of protein catabolic process glucose homeostasis identical protein binding positive regulation of MAPK cascade cellular protein metabolic process positive regulation of cell differentiation negative regulation of gluconeogenesis positive regulation of glycogen biosynthetic process negative regulation of glycogen catabolic process positive regulation of glycolytic process positive regulation of mitotic nuclear division negative regulation of proteolysis negative regulation of fatty acid metabolic process positive regulation of glucose import positive regulation of insulin receptor signaling pathway alpha-beta T cell activation positive regulation of lipid biosynthetic process regulation of synaptic plasticity regulation of protein secretion negative regulation of protein secretion positive regulation of cytokine secretion cognition negative regulation of lipid catabolic process positive regulation of nitric-oxide synthase activity positive regulation of NF-kappaB transcription factor activity positive regulation of protein kinase B signaling fatty acid homeostasis negative regulation of respiratory burst involved in inflammatory response positive regulation of respiratory burst positive regulation of peptide hormone secretion positive regulation of brown fat cell differentiation positive regulation of protein localization to nucleus positive regulation of long-term synaptic potentiation negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway positive regulation of dendritic spine maintenance regulation of protein localization to plasma membrane negative regulation of reactive oxygen species biosynthetic process neuron projection maintenance negative regulation of feeding behavior uc001lvn.1 uc001lvn.2 uc001lvn.3 
ENST00000251038.10 ZC3H14 ENST00000251038.10 Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 29, non-coding RNA. (from RefSeq NR_136936) A8MY46 ENST00000251038.1 ENST00000251038.2 ENST00000251038.3 ENST00000251038.4 ENST00000251038.5 ENST00000251038.6 ENST00000251038.7 ENST00000251038.8 ENST00000251038.9 NR_136936 Q6MZU4 Q6PJ32 Q6PJT7 Q6PUI6 Q6PUI8 Q86TQ5 Q86TW0 Q86TW1 Q8NCT6 Q8NCZ3 Q8TDE2 Q9HAC9 Q9Y5A0 ZC3HE_HUMAN uc001xww.1 uc001xww.2 uc001xww.3 uc001xww.4 uc001xww.5 The protein encoded by this gene is a poly(A)-binding protein that can affect gene expression and poly(A) tail length. The encoded protein may influence mRNA stability, nuclear export, and translation. [provided by RefSeq, May 2016]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.45598.1 [ECO:0000332] ##Evidence-Data-END## Binds the polyadenosine RNA oligonucleotides. Interacts with HOOK2. Nucleus speckle. Isoform 1: Nucleus speckle. Isoform 3: Nucleus speckle. Isoform 6: Cytoplasm. Event=Alternative splicing; Named isoforms=7; Name=1; Synonyms=Isoform 1; IsoId=Q6PJT7-1; Sequence=Displayed; Name=2; IsoId=Q6PJT7-2; Sequence=VSP_033171; Name=3; Synonyms=Isoform 2; IsoId=Q6PJT7-3; Sequence=VSP_033166, VSP_033171; Name=4; Synonyms=Isoform 3 short; IsoId=Q6PJT7-4; Sequence=VSP_033164, VSP_033168; Name=5; IsoId=Q6PJT7-5; Sequence=VSP_033167; Name=6; Synonyms=Isoform 4; IsoId=Q6PJT7-6; Sequence=VSP_033163, VSP_033165, VSP_033168, VSP_033171; Name=8; IsoId=Q6PJT7-8; Sequence=VSP_033162, VSP_033169; Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the ZC3H14 family. Contains 5 C3H1-type zinc fingers. Sequence=AAL83289.1; Type=Miscellaneous discrepancy; Note=Several sequencing errors; Sequence=AAS90302.1; Type=Frameshift; Positions=Several; Sequence=AAS90302.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; Sequence=AK021868; Type=Frameshift; Positions=199; Sequence=CAE45933.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; RNA binding protein binding nucleus nucleolus cytoplasm poly(A) binding nuclear speck dendrite cytoplasm regulation of mRNA stability metal ion binding negative regulation of mRNA polyadenylation axon cytoplasm ribonucleoprotein complex uc001xww.1 uc001xww.2 uc001xww.3 uc001xww.4 uc001xww.5 
ENST00000251047.6 LMAN1 ENST00000251047.6 Homo sapiens lectin, mannose binding 1 (LMAN1), mRNA. (from RefSeq NM_005570) ENST00000251047.1 ENST00000251047.2 ENST00000251047.3 ENST00000251047.4 ENST00000251047.5 ERGIC53 F5F8D LMAN1_HUMAN NM_005570 P49257 Q12895 Q8N5I7 Q9UQG1 Q9UQG2 Q9UQG3 Q9UQG4 Q9UQG5 Q9UQG6 Q9UQG7 Q9UQG8 Q9UQG9 Q9UQH0 Q9UQH1 Q9UQH2 uc002lhz.1 uc002lhz.2 uc002lhz.3 uc002lhz.4 uc002lhz.5 The protein encoded by this gene is a membrane mannose-specific lectin that cycles between the endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment, and cis-Golgi, functioning as a cargo receptor for glycoprotein transport. The protein has an N-terminal signal sequence, a calcium-dependent and pH-sensitive carbohydrate recognition domain, a stalk region that functions in oligomerization, a transmembrane domain, and a short cytoplasmic domain required for organelle targeting. Allelic variants of this gene are associated with the autosomal recessive disorder combined factor V-factor VIII 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 :: SRR1660803.186437.1, SRR1660805.147759.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000251047.6/ ENSP00000251047.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Mannose-specific lectin. May recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. The LMAN1-MCFD2 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins. Exists both as a covalent disulfide-linked homohexamer, and a complex of three disulfide-linked dimers non-covalently kept together. Interacts with MCFD2. O15260:SURF4; NbExp=3; IntAct=EBI-1057738, EBI-1044848; Endoplasmic reticulum-Golgi intermediate compartment membrane; Single-pass type I membrane protein. Golgi apparatus membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Ubiquitous. The FF ER export motif at the C-terminus is not sufficient to support endoplasmic reticulum exit, and needs assistance of Gln-501 for proper recognition of COPII coat components. The N-terminal may be partly blocked. Mass=54222.91; Method=MALDI; Range=31-510; Source=PubMed:11840567; Defects in LMAN1 are THE cause of factor V and factor VIII combined deficiency type 1 (F5F8D1) [MIM:227300]; also known as multiple coagulation factor deficiency I (MCFD1). F5F8D1 is an autosomal recessive blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal. Contains 1 L-type lectin-like domain. Golgi membrane protein binding mannose binding endoplasmic reticulum endoplasmic reticulum membrane endoplasmic reticulum-Golgi intermediate compartment Golgi apparatus cytosol protein folding ER to Golgi vesicle-mediated transport endoplasmic reticulum organization Golgi organization blood coagulation positive regulation of organelle organization ER to Golgi transport vesicle membrane protein transport membrane integral component of membrane vesicle-mediated transport protein N-linked glycosylation via asparagine ER to Golgi transport vesicle carbohydrate binding endoplasmic reticulum-Golgi intermediate compartment membrane host cell perinuclear region of cytoplasm metal ion binding COPII vesicle coating unfolded protein binding extracellular exosome negative regulation of protein targeting to mitochondrion protein exit from endoplasmic reticulum early endosome to Golgi transport uc002lhz.1 uc002lhz.2 uc002lhz.3 uc002lhz.4 uc002lhz.5 
ENST00000251089.8 ANGEL1 ENST00000251089.8 Homo sapiens angel homolog 1 (ANGEL1), transcript variant 4, mRNA. (from RefSeq NM_015305) ANGE1_HUMAN B4DWL7 ENST00000251089.1 ENST00000251089.2 ENST00000251089.3 ENST00000251089.4 ENST00000251089.5 ENST00000251089.6 ENST00000251089.7 KIAA0759 NM_015305 O94859 Q8NCS9 Q9UNK9 uc001xsv.1 uc001xsv.2 uc001xsv.3 uc001xsv.4 uc001xsv.5 uc001xsv.6 Belongs to the CCR4/nocturin family. Sequence=BAA34479.1; Type=Erroneous initiation; Sequence=BAG63079.1; Type=Erroneous initiation; 3'-5'-exoribonuclease activity nucleus endoplasmic reticulum cis-Golgi network cytosol eukaryotic initiation factor 4E binding protein domain specific binding perinuclear region of cytoplasm RNA phosphodiester bond hydrolysis, exonucleolytic uc001xsv.1 uc001xsv.2 uc001xsv.3 uc001xsv.4 uc001xsv.5 uc001xsv.6 
ENST00000251102.13 CNGB1 ENST00000251102.13 Homo sapiens cyclic nucleotide gated channel subunit beta 1 (CNGB1), transcript variant 1, mRNA. (from RefSeq NM_001297) CNCG2 CNCG3L CNCG4 CNGB1_HUMAN ENST00000251102.1 ENST00000251102.10 ENST00000251102.11 ENST00000251102.12 ENST00000251102.2 ENST00000251102.3 ENST00000251102.4 ENST00000251102.5 ENST00000251102.6 ENST00000251102.7 ENST00000251102.8 ENST00000251102.9 NM_001297 O43636 Q13059 Q14028 Q14029 Q9UMG2 RCNC2 uc002emt.1 uc002emt.2 uc002emt.3 uc002emt.4 In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]. Subunit of cyclic nucleotide-gated (CNG) channels, nonselective cation channels, which play important roles in both visual and olfactory signal transduction. When associated with CNGA1, it is involved in the regulation of ion flow into the rod photoreceptor outer segment (ROS), in response to light-induced alteration of the levels of intracellular cGMP. Isoform GARP2 is a high affinity rod photoreceptor phosphodiesterase (PDE6)-binding protein that modulates its catalytic properties: it is a regulator of spontaneous activation of rod PDE6, thereby serving to lower rod photoreceptor 'dark noise' and allowing these sensory cells to operate at the single photon detection limit. Heterooligomeric complex with CNGA1. Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=3; Comment=There is no evidence for an ortholog to bovine GARP1 in the human genome; Name=RCNC2B; IsoId=Q14028-1; Sequence=Displayed; Name=RCNC2A; IsoId=Q14028-2; Sequence=VSP_001110; Name=GARP2; Synonyms=GARP; IsoId=Q14028-3; Sequence=VSP_037921, VSP_037922; Note=In the rod cells, the CNGB1 locus encodes the cyclic nucleotide-gated cation channel beta-1 subunit and several glutamic-acid-rich proteins (GARPs); Defects in CNGB1 are the cause of retinitis pigmentosa type 45 (RP45) [MIM:613767]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGB1 subfamily. Contains 1 cyclic nucleotide-binding domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CNGB1"; Golgi membrane nucleotide binding photoreceptor outer segment retina homeostasis intracellular cyclic nucleotide activated cation channel activity intracellular cAMP activated cation channel activity intracellular cGMP activated cation channel activity protein binding plasma membrane ion transport cation transport visual perception phototransduction sensory perception of smell ligand-gated ion channel activity membrane integral component of membrane rhodopsin mediated signaling pathway intracellular cyclic nucleotide activated cation channel complex regulation of rhodopsin mediated signaling pathway cAMP binding cGMP binding Golgi-associated vesicle membrane protein localization to organelle photoreceptor cell outer segment organization terminal bouton cyclic nucleotide-gated ion channel activity photoreceptor cell maintenance response to stimulus detection of light stimulus involved in visual perception protein heterotetramerization regulation of cytosolic calcium ion concentration ciliary membrane cation transmembrane transport transmembrane transporter complex uc002emt.1 uc002emt.2 uc002emt.3 uc002emt.4 
ENST00000251108.10 CDADC1 ENST00000251108.10 Homo sapiens cytidine and dCMP deaminase domain containing 1 (CDADC1), transcript variant 3, non-coding RNA. (from RefSeq NR_036439) CDAC1_HUMAN ENST00000251108.1 ENST00000251108.2 ENST00000251108.3 ENST00000251108.4 ENST00000251108.5 ENST00000251108.6 ENST00000251108.7 ENST00000251108.8 ENST00000251108.9 NR_036439 Q49A08 Q4G119 Q5TAW9 Q7Z764 Q9BWV3 Q9NT36 uc001vcu.1 uc001vcu.2 uc001vcu.3 uc001vcu.4 May play an important role in testicular development and spermatogenesis. Zinc (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9BWV3-1; Sequence=Displayed; Name=2; IsoId=Q9BWV3-2; Sequence=VSP_027812, VSP_027813; Name=3; IsoId=Q9BWV3-3; Sequence=VSP_027814, VSP_027815; Name=4; IsoId=Q9BWV3-4; Sequence=VSP_027811; Widely expressed. Expressed at high levels in the testis. Belongs to the cytidine and deoxycytidylate deaminase family. catalytic activity cytidine deaminase activity dCMP deaminase activity nucleus cytoplasm dUMP biosynthetic process dTMP biosynthetic process zinc ion binding cytidine deamination hydrolase activity protein homodimerization activity metal ion binding importin-alpha family protein binding DNA cytosine deamination uc001vcu.1 uc001vcu.2 uc001vcu.3 uc001vcu.4 
ENST00000251127.11 NALCN ENST00000251127.11 Homo sapiens sodium leak channel, non-selective (NALCN), transcript variant 2, mRNA. (from RefSeq NM_052867) ENST00000251127.1 ENST00000251127.10 ENST00000251127.2 ENST00000251127.3 ENST00000251127.4 ENST00000251127.5 ENST00000251127.6 ENST00000251127.7 ENST00000251127.8 ENST00000251127.9 NALCN_HUMAN NM_052867 Q6P2S6 Q6ZMI7 Q8IZF0 Q8IZZ1 Q8TAH1 VGCNL1 uc001vox.1 uc001vox.2 uc001vox.3 This gene encodes a voltage-independent, nonselective cation channel which belongs to a family of voltage-gated sodium and calcium channels that regulates the resting membrane potential and excitability of neurons. This family is expressed throughout the nervous system and conducts a persistent sodium leak current that contributes to tonic neuronal excitability. The encoded protein forms a channelosome complex that includes G-protein-coupled receptors, UNC-79, UNC-80, NCA localization factor-1, and src family tyrosine kinases. Naturally occurring mutations in this gene are associated with infantile neuroaxonal dystrophy, infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) syndrome, and congenital contractures of the limbs and face with hypotonia and developmental delay (CLIFAHDD) syndrome. A knockout of the orthologous gene in mice results in paralysis with a severely disrupted respiratory rhythm, and lethality within 24 hours after birth. [provided by RefSeq, Apr 2017]. Voltage-independent, cation-nonselective channel which is permeable to sodium, potassium and calcium ions. Responsible for the background sodium ion leak current in neurons and controls neuronal excitability. Activated either by neuropeptides substance P or neurotensin. Required for normal respiratory rhythm and neonatal survival (By similarity). Interacts with UNC79 and UNC80 (By similarity). Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8IZF0-1; Sequence=Displayed; Name=2; IsoId=Q8IZF0-2; Sequence=VSP_030190, VSP_030191; Name=3; IsoId=Q8IZF0-3; Sequence=VSP_030188, VSP_030189; Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position. Belongs to the cation-nonselective channel family. Sequence=BAD18738.1; Type=Erroneous initiation; Note=Translation N-terminally extended; ion channel activity voltage-gated ion channel activity cation channel activity sodium channel activity protein binding plasma membrane ion transport sodium ion transport membrane integral component of membrane leak channel activity ion transmembrane transport regulation of ion transmembrane transport sodium ion transmembrane transport transmembrane transport regulation of resting membrane potential calcium ion transmembrane transport potassium ion transmembrane transport uc001vox.1 uc001vox.2 uc001vox.3 
ENST00000251157.10 DOCK7 ENST00000251157.10 Homo sapiens dedicator of cytokinesis 7 (DOCK7), transcript variant 6, mRNA. (from RefSeq NM_001330614) DOCK7_HUMAN ENST00000251157.1 ENST00000251157.2 ENST00000251157.3 ENST00000251157.4 ENST00000251157.5 ENST00000251157.6 ENST00000251157.7 ENST00000251157.8 ENST00000251157.9 KIAA1771 NM_001330614 Q00M63 Q2PPY7 Q45RE8 Q45RE9 Q5T1B9 Q5T1C0 Q6ZV32 Q8TB82 Q96N67 Q96NG6 Q9C092 uc057hdb.1 uc057hdb.2 The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## Functions as a guanine nucleotide exchange factor (GEF), which activates Rac1 and Rac3 Rho small GTPases by exchanging bound GDP for free GTP. Does not have a GEF activity for CDC42. Required for STMN1 'Ser-15' phosphorylation during axon formation and consequently for neuronal polarization. Interacts with TSC1. Interacts with nucleotide-free RAC1 and RAC3. Cell projection, axon. Note=Enriched in the developing axons of hippocampal neurons. Event=Alternative splicing; Named isoforms=6; Name=1; IsoId=Q96N67-1; Sequence=Displayed; Name=2; IsoId=Q96N67-2; Sequence=VSP_022240, VSP_007707; Name=3; IsoId=Q96N67-3; Sequence=VSP_012440, VSP_022240; Name=4; IsoId=Q96N67-4; Sequence=VSP_012440, VSP_022240, VSP_007707; Name=5; IsoId=Q96N67-5; Sequence=VSP_012440; Name=6; IsoId=Q96N67-6; Sequence=VSP_022240; Widely expressed. The DHR-2 domain mediates GEF activity. Belongs to the DOCK family. Contains 1 DHR-1 domain. Contains 1 DHR-2 domain. Sequence=AAH16392.2; Type=Frameshift; Positions=1337; Sequence=ABC33725.1; Type=Frameshift; Positions=911; Sequence=BAB70933.1; Type=Erroneous initiation; Sequence=BAB71042.1; Type=Frameshift; Positions=1792; Sequence=BAC86032.1; Type=Erroneous initiation; microtubule cytoskeleton organization guanyl-nucleotide exchange factor activity protein binding focal adhesion small GTPase mediated signal transduction multicellular organism development nervous system development axonogenesis interkinetic nuclear migration cell differentiation axon growth cone neuron projection development positive regulation of peptidyl-serine phosphorylation cell projection neuron projection basal part of cell establishment of neuroblast polarity Rac GTPase binding regulation of neurogenesis activation of GTPase activity positive regulation of vascular associated smooth muscle cell migration COP9 signalosome uc057hdb.1 uc057hdb.2 
ENST00000251166.9 CORO7 ENST00000251166.9 Homo sapiens coronin 7 (CORO7), transcript variant 1, mRNA. (from RefSeq NM_024535) B4DL18 CORO7_HUMAN ENST00000251166.1 ENST00000251166.2 ENST00000251166.3 ENST00000251166.4 ENST00000251166.5 ENST00000251166.6 ENST00000251166.7 ENST00000251166.8 NM_024535 P57737 Q17RK4 uc002cwh.1 uc002cwh.2 uc002cwh.3 uc002cwh.4 uc002cwh.5 uc002cwh.6 This gene encodes a member of the coronin protein family. However, unlike other coronin proteins, it is not an actin-binding protein but rather functions as an F-actin regulator directing anterograde Golgi to endosome transport. The encoded protein has two tandem WD-40 domain repeats and localizes to the trans-Golgi network. The protein undergoes K33-linked polyubiquitination via an E3 ligase complex. It is thought to play an essential role in maintenance of Golgi apparatus morphology. Alternative splicing results in multiple transcripts variants; some of which form read-through transcripts with a neighboring gene. [provided by RefSeq, Dec 2016]. May play a role in the maintenance of the Golgi apparatus morphology and in the protein export from the Golgi. Interacted with clathrin adapter AP1 complex. This interaction takes place at Golgi membranes and not AP1-positive endosomal membranes. Cytoplasm, cytosol (By similarity). Golgi apparatus membrane. Cytoplasmic vesicle (By similarity). Note=Predominantly cytosolic. Detected on vesicle-like cytoplasmic structures and on the cis-Golgi. Not associated with actin filaments. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P57737-1; Sequence=Displayed; Name=2; IsoId=P57737-2; Sequence=VSP_038152; Note=No experimental confirmation available; The membrane-associated form is phosphorylated on tyrosine residues (By similarity). Belongs to the WD repeat coronin family. Contains 8 WD repeats. Golgi membrane actin binding protein binding cytoplasm Golgi apparatus trans-Golgi network cytosol Golgi to endosome transport actin filament organization protein transport membrane integral component of membrane actin filament polymerization cytoplasmic vesicle actin filament binding uc002cwh.1 uc002cwh.2 uc002cwh.3 uc002cwh.4 uc002cwh.5 uc002cwh.6 
ENST00000251170.12 SEC14L5 ENST00000251170.12 Homo sapiens SEC14 like lipid binding 5 (SEC14L5), mRNA. (from RefSeq NM_014692) ENST00000251170.1 ENST00000251170.10 ENST00000251170.11 ENST00000251170.2 ENST00000251170.3 ENST00000251170.4 ENST00000251170.5 ENST00000251170.6 ENST00000251170.7 ENST00000251170.8 ENST00000251170.9 KIAA0420 NM_014692 O43304 S14L5_HUMAN uc002cye.1 uc002cye.2 uc002cye.3 uc002cye.4 Contains 1 CRAL-TRIO domain. Contains 1 GOLD domain. Contains 1 PRELI/MSF1 domain. Sequence=BAA24850.2; Type=Erroneous initiation; uc002cye.1 uc002cye.2 uc002cye.3 uc002cye.4 
ENST00000251203.14 PBX4 ENST00000251203.14 Homo sapiens PBX homeobox 4 (PBX4), transcript variant 1, mRNA. (from RefSeq NM_025245) A5D8Y0 B3KUK9 ENST00000251203.1 ENST00000251203.10 ENST00000251203.11 ENST00000251203.12 ENST00000251203.13 ENST00000251203.2 ENST00000251203.3 ENST00000251203.4 ENST00000251203.5 ENST00000251203.6 ENST00000251203.7 ENST00000251203.8 ENST00000251203.9 NM_025245 PBX4_HUMAN Q9BYU1 uc002nmy.1 uc002nmy.2 uc002nmy.3 uc002nmy.4 uc002nmy.5 This gene encodes a member of the pre-B cell leukemia transcription factor family. These proteins are homeobox proteins that play critical roles in embryonic development and cellular differentiation both as Hox cofactors and through Hox-independent pathways. The encoded protein contains a homeobox DNA-binding domain, but specific functions of the protein have not been determined. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011]. Nucleus (Potential). Belongs to the TALE/PBX homeobox family. Contains 1 homeobox DNA-binding domain. Sequence=BC033067; Type=Frameshift; Positions=137; nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding XY body DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter sequence-specific DNA binding positive regulation of transcription, DNA-templated uc002nmy.1 uc002nmy.2 uc002nmy.3 uc002nmy.4 uc002nmy.5 
ENST00000251241.9 DHX40 ENST00000251241.9 Homo sapiens DEAH-box helicase 40 (DHX40), transcript variant 1, mRNA. (from RefSeq NM_024612) ARG147 B3KTJ5 DDX40 DHX40_HUMAN ENST00000251241.1 ENST00000251241.2 ENST00000251241.3 ENST00000251241.4 ENST00000251241.5 ENST00000251241.6 ENST00000251241.7 ENST00000251241.8 NM_024612 Q5JPH4 Q8IX18 Q8TC86 Q8WY53 Q9BXM1 Q9H6M9 uc002ixn.1 uc002ixn.2 uc002ixn.3 uc002ixn.4 This gene encodes a member of the DExH/D box family of ATP-dependent RNA helicases that have an essential role in RNA metabolism. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Oct 2009]. Probable ATP-dependent RNA helicase (By similarity). ATP + H(2)O = ADP + phosphate. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8IX18-1; Sequence=Displayed; Name=2; IsoId=Q8IX18-2; Sequence=VSP_020932, VSP_020933; Note=No experimental confirmation available; Name=3; IsoId=Q8IX18-3; Sequence=VSP_020934, VSP_020935; Note=No experimental confirmation available; Ubiquitously expressed. Belongs to the DEAD box helicase family. DEAH subfamily. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain. Sequence=AAF70326.1; Type=Frameshift; Positions=758; Sequence=AAK32122.1; Type=Erroneous initiation; Sequence=BAB15226.1; Type=Erroneous initiation; nucleotide binding mRNA splicing, via spliceosome nucleic acid binding RNA binding RNA helicase activity helicase activity ATP binding hydrolase activity uc002ixn.1 uc002ixn.2 uc002ixn.3 uc002ixn.4 
ENST00000251268.11 MEGF8 ENST00000251268.11 Homo sapiens multiple EGF like domains 8 (MEGF8), transcript variant 1, mRNA. (from RefSeq NM_001271938) A8KAY0 C19orf49 EGFL4 ENST00000251268.1 ENST00000251268.10 ENST00000251268.2 ENST00000251268.3 ENST00000251268.4 ENST00000251268.5 ENST00000251268.6 ENST00000251268.7 ENST00000251268.8 ENST00000251268.9 KIAA0817 MEGF8_HUMAN NM_001271938 O75097 Q7Z7M0 uc002otm.1 uc002otm.2 uc002otm.3 uc002otm.4 uc002otm.5 uc002otm.6 uc002otm.7 The protein encoded by this gene is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains. Defects in this gene are a cause of Carpenter syndrome 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]. O15265:ATXN7; NbExp=2; IntAct=EBI-947617, EBI-708350; O00555:CACNA1A; NbExp=2; IntAct=EBI-947617, EBI-766279; Membrane; Single-pass type I membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7Z7M0-1; Sequence=Displayed; Name=2; IsoId=Q7Z7M0-2; Sequence=VSP_036067; Contains 2 CUB domains. Contains 5 EGF-like domains. Contains 12 Kelch repeats. Contains 4 laminin EGF-like domains. Contains 7 PSI domains. Sequence=AAP35084.1; Type=Erroneous initiation; Sequence=BAA32469.2; Type=Erroneous initiation; embryonic heart tube morphogenesis calcium ion binding protein binding nucleus determination of left/right symmetry animal organ morphogenesis tissue development regulation of gene expression membrane integral component of membrane embryonic limb morphogenesis BMP signaling pathway limb morphogenesis cell migration involved in gastrulation negative regulation of smoothened signaling pathway embryonic skeletal system morphogenesis positive regulation of axon extension involved in axon guidance epiboly involved in gastrulation with mouth forming second embryonic heart tube left/right pattern formation left/right pattern formation coronary vasculature development determination of heart left/right asymmetry extracellular exosome determination of digestive tract left/right asymmetry craniofacial suture morphogenesis fasciculation of sensory neuron axon uc002otm.1 uc002otm.2 uc002otm.3 uc002otm.4 uc002otm.5 uc002otm.6 uc002otm.7 
ENST00000251287.3 HCN2 ENST00000251287.3 Homo sapiens hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 (HCN2), mRNA. (from RefSeq NM_001194) BCNG2 ENST00000251287.1 ENST00000251287.2 HCN2_HUMAN NM_001194 O60742 O60743 O75267 Q9UBS2 Q9UL51 uc002lpe.1 uc002lpe.2 uc002lpe.3 uc002lpe.4 The protein encoded by this gene is a hyperpolarization-activated cation channel involved in the generation of native pacemaker activity in the heart and in the brain. The encoded protein is activated by cAMP and can produce a fast, large current. Defects in this gene were noted as a possible cause of some forms of epilepsy. [provided by RefSeq, Jan 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 :: AJ012582.1, AF065164.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000251287.3/ ENSP00000251287.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions. Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). Produces a large instantaneous current. Activated by cAMP. Modulated by intracellular chloride ions and pH; acidic pH shifts the activation to more negative voltages (By similarity). The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming subunits. Heteromultimer with HCN1. Interacts with KCNE2 (By similarity). Membrane; Multi-pass membrane protein. Highly expressed throughout the brain. Detected at low levels in heart. The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Inhibited by extracellular cesium ions. Belongs to the potassium channel HCN family. Contains 1 cyclic nucleotide-binding domain. nucleotide binding ion channel activity intracellular cAMP activated cation channel activity voltage-gated ion channel activity voltage-gated sodium channel activity voltage-gated potassium channel activity potassium channel activity sodium channel activity protein binding plasma membrane integral component of plasma membrane ion transport potassium ion transport sodium ion transport cell-cell signaling voltage-gated potassium channel complex membrane integral component of membrane cAMP binding regulation of ion transmembrane transport sodium ion transmembrane transport regulation of membrane potential identical protein binding transmembrane transport cellular response to cAMP cellular response to cGMP potassium ion transmembrane transport membrane depolarization during cardiac muscle cell action potential sodium ion import across plasma membrane HCN channel complex potassium ion import across plasma membrane uc002lpe.1 uc002lpe.2 uc002lpe.3 uc002lpe.4 
ENST00000251296.4 IGSF21 ENST00000251296.4 Homo sapiens immunoglobin superfamily member 21 (IGSF21), mRNA. (from RefSeq NM_032880) ENST00000251296.1 ENST00000251296.2 ENST00000251296.3 IGS21_HUMAN NM_032880 Q8NBR8 Q96ID5 uc001bau.1 uc001bau.2 uc001bau.3 uc001bau.4 This gene encodes a protein which has two immunoglobulin (Ig) domains and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways. [provided by RefSeq, Sep 2011]. ##Evidence-Data-START## Transcript exon combination :: BC007618.1, AK075316.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000251296.4/ ENSP00000251296.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Secreted (Potential). Contains 2 Ig-like (immunoglobulin-like) domains. plasma membrane cell-cell adherens junction homophilic cell adhesion via plasma membrane adhesion molecules heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules membrane cell junction anchored component of membrane anchored component of external side of plasma membrane signaling receptor activity presynaptic membrane protein homodimerization activity synapse postsynaptic membrane cell adhesion molecule binding synapse maturation inhibitory synapse uc001bau.1 uc001bau.2 uc001bau.3 uc001bau.4 
ENST00000251303.11 SLX1A ENST00000251303.11 Homo sapiens SLX1 homolog A, structure-specific endonuclease subunit (SLX1A), transcript variant 1, mRNA. (from RefSeq NM_001014999) B7ZME1 ENST00000251303.1 ENST00000251303.10 ENST00000251303.2 ENST00000251303.3 ENST00000251303.4 ENST00000251303.5 ENST00000251303.6 ENST00000251303.7 ENST00000251303.8 ENST00000251303.9 GIYD1 GIYD2 NM_001014999 Q6NTG6 Q9BQ83 SLX1 SLX1B SLX1_HUMAN uc002dxg.1 uc002dxg.2 uc002dxg.3 uc002dxg.4 uc002dxg.5 This gene encodes a protein that is an important regulator of genome stability. The protein represents the catalytic subunit of the SLX1-SLX4 structure-specific endonuclease, which can resolve DNA secondary structures that are formed during repair and recombination processes. Two identical copies of this gene are located on the p arm of chromosome 16 due to a segmental duplication; this record represents the more centromeric copy. Alternative splicing results in multiple transcript variants. Read-through transcription also occurs between this gene and the downstream SULT1A3 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3) gene. [provided by RefSeq, Nov 2010]. Catalytic subunit of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing single-strand cuts in duplex DNA close to junctions with ss-DNA. Has a preference for 5'-flap structures, and promotes symmetrical cleavage of static and migrating Holliday junctions (HJs). Resolves HJs by generating two pairs of ligatable, nicked duplex products. Divalent cation. Forms a heterodimer with SLX4. Q8IY92:SLX4; NbExp=10; IntAct=EBI-2370858, EBI-2370740; Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BQ83-1; Sequence=Displayed; Name=2; IsoId=Q9BQ83-2; Sequence=VSP_033331; Belongs to the SLX1 family. Contains 1 GIY-YIG domain. Contains 1 SLX1-type zinc finger. Found in a segmental duplication on p arm of chromosome 16 giving rise to two identical copies of this gene sharing exons with SULT1A3 and SULT1A4. double-strand break repair via homologous recombination nuclease activity endonuclease activity protein binding nucleus nucleoplasm DNA repair DNA recombination cellular response to DNA damage stimulus crossover junction endodeoxyribonuclease activity DNA double-strand break processing involved in repair via single-strand annealing telomere maintenance via telomere lengthening hydrolase activity 5'-flap endonuclease activity Slx1-Slx4 complex interstrand cross-link repair metal ion binding telomeric D-loop disassembly nucleic acid phosphodiester bond hydrolysis t-circle formation negative regulation of telomere maintenance via telomere lengthening positive regulation of t-circle formation uc002dxg.1 uc002dxg.2 uc002dxg.3 uc002dxg.4 uc002dxg.5 
ENST00000251343.9 KHNYN ENST00000251343.9 Homo sapiens KH and NYN domain containing (KHNYN), transcript variant 2, mRNA. (from RefSeq NM_001290256) ENST00000251343.1 ENST00000251343.2 ENST00000251343.3 ENST00000251343.4 ENST00000251343.5 ENST00000251343.6 ENST00000251343.7 ENST00000251343.8 KHNYN_HUMAN KIAA0323 NM_001290256 O15037 Q86TZ6 Q8IUQ2 Q96BA9 uc010tpc.1 uc010tpc.2 uc010tpc.3 This gene encodes a protein containing a ribonuclease NYN domain. The function of this protein has yet to be determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. Belongs to the N4BP1 family. Sequence=BAA20781.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; molecular_function RNA binding cellular_component biological_process uc010tpc.1 uc010tpc.2 uc010tpc.3 
ENST00000251372.8 LILRA1 ENST00000251372.8 Homo sapiens leukocyte immunoglobulin like receptor A1 (LILRA1), transcript variant 1, mRNA. (from RefSeq NM_006863) ENST00000251372.1 ENST00000251372.2 ENST00000251372.3 ENST00000251372.4 ENST00000251372.5 ENST00000251372.6 ENST00000251372.7 LIR6 LIRA1_HUMAN NM_006863 O75018 O75019 Q3MJA6 uc002qgh.1 uc002qgh.2 uc002qgh.3 uc002qgh.4 uc002qgh.5 This gene encodes an activating member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein is predominantly expressed in B cells, interacts with major histocompatibility complex class I ligands, and contributes to the regulation of immune responses. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]. May act as receptor for class I MHC antigens. Membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=LIR-6a; IsoId=O75019-1; Sequence=Displayed; Name=2; Synonyms=LIR-6b; IsoId=O75019-2; Sequence=VSP_008454; Detected in monocytes and B-cells. Contains 4 Ig-like C2-type (immunoglobulin-like) domains. adaptive immune response immune system process antigen binding transmembrane signaling receptor activity plasma membrane defense response cell surface receptor signaling pathway membrane integral component of membrane regulation of immune response uc002qgh.1 uc002qgh.2 uc002qgh.3 uc002qgh.4 uc002qgh.5 
ENST00000251412.8 TUBG2 ENST00000251412.8 Homo sapiens tubulin gamma 2 (TUBG2), transcript variant 2, mRNA. (from RefSeq NM_016437) A6NDI4 ENST00000251412.1 ENST00000251412.2 ENST00000251412.3 ENST00000251412.4 ENST00000251412.5 ENST00000251412.6 ENST00000251412.7 NM_016437 Q32NB2 Q9NRH3 TBG2_HUMAN uc010wgr.1 uc010wgr.2 uc010wgr.3 uc010wgr.4 Tubulin is the major constituent of microtubules. Gamma tubulin is found at microtubule organizing centers (MTOC) such as the spindle poles or the centrosome. Pericentriolar matrix component that regulates alpha/beta tubulin minus-end nucleation, centrosome duplication and spindle formation (By similarity). Cytoplasm, cytoskeleton, centrosome (Probable). Phosphorylation at Ser-131 by BRSK1 regulates centrosome duplication, possibly by mediating relocation of gamma-tubulin and its associated proteins from the cytoplasm to the centrosome. Belongs to the tubulin family. mitotic sister chromatid segregation nucleotide binding meiotic spindle organization microtubule cytoskeleton organization pericentriolar material mitotic cell cycle gamma-tubulin complex GTPase activity structural molecule activity structural constituent of cytoskeleton GTP binding nucleus cytoplasm centrosome microtubule organizing center spindle cytosol cytoskeleton microtubule spindle microtubule cytoplasmic microtubule microtubule-based process microtubule nucleation mitotic spindle organization microtubule cytoskeleton cytoplasmic microtubule organization uc010wgr.1 uc010wgr.2 uc010wgr.3 uc010wgr.4 
ENST00000251413.8 TUBG1 ENST00000251413.8 Homo sapiens tubulin gamma 1 (TUBG1), mRNA. (from RefSeq NM_001070) ENST00000251413.1 ENST00000251413.2 ENST00000251413.3 ENST00000251413.4 ENST00000251413.5 ENST00000251413.6 ENST00000251413.7 NM_001070 P23258 Q53X79 Q9BW59 TBG1_HUMAN TUBG uc002ian.1 uc002ian.2 uc002ian.3 uc002ian.4 uc002ian.5 This gene encodes a member of the tubulin superfamily. The encoded protein localizes to the centrosome where it binds to microtubules as part of a complex referred to as the gamma-tubulin ring complex. The protein mediates microtubule nucleation and is required for microtubule formation and progression of the cell cycle. A pseudogene of this gene is found on chromosome 7. [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 :: SRR3476690.319742.1, SRR3476690.775721.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000251413.8/ ENSP00000251413.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Tubulin is the major constituent of microtubules. Gamma tubulin is found at microtubule organizing centers (MTOC) such as the spindle poles or the centrosome. Pericentriolar matrix component that regulates alpha/beta tubulin minus-end nucleation, centrosome duplication and spindle formation. Interacts with TUBGCP2 and TUBGCP3. Interacts with B9D2 (By similarity). Interacts with CDK5RAP2; the interaction is leading to centrosomal localization of TUBG1 and CDK5RAP2. Interacts with PIFO. Q96L34:MARK4; NbExp=4; IntAct=EBI-302589, EBI-302319; Q08AG7:MZT1; NbExp=2; IntAct=EBI-302589, EBI-2637198; Q6NZ67:MZT2B; NbExp=2; IntAct=EBI-302589, EBI-1052566; Cytoplasm, cytoskeleton, centrosome. Phosphorylation at Ser-131 by BRSK1 regulates centrosome duplication, possibly by mediating relocation of gamma-tubulin and its associated proteins from the cytoplasm to the centrosome (By similarity). Mass=51197.98; Method=MALDI; Range=1-451; Source=PubMed:11840567; Belongs to the tubulin family. mitotic sister chromatid segregation G2/M transition of mitotic cell cycle nucleotide binding meiotic spindle organization microtubule cytoskeleton organization pericentriolar material mitotic cell cycle condensed nuclear chromosome gamma-tubulin complex GTPase activity structural constituent of cytoskeleton protein binding GTP binding nucleus cytoplasm centrosome centriole microtubule organizing center spindle polar microtubule cytosol cytoskeleton microtubule spindle microtubule cytoplasmic microtubule cilium microtubule-based process microtubule nucleation mitotic spindle organization regulation of G2/M transition of mitotic cell cycle cytoplasmic microtubule organization cell leading edge ciliary basal body identical protein binding apical part of cell recycling endosome ciliary basal body docking non-motile cilium uc002ian.1 uc002ian.2 uc002ian.3 uc002ian.4 uc002ian.5 
ENST00000251453.8 RPS16 ENST00000251453.8 Homo sapiens ribosomal protein S16 (RPS16), transcript variant 1, mRNA. (from RefSeq NM_001020) B2RDD5 ENST00000251453.1 ENST00000251453.2 ENST00000251453.3 ENST00000251453.4 ENST00000251453.5 ENST00000251453.6 ENST00000251453.7 NM_001020 P17008 P62249 RS16_HUMAN uc002olk.1 uc002olk.2 uc002olk.3 uc002olk.4 uc002olk.5 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S9P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.380039.1, CD176907.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968832 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000251453.8/ ENSP00000251453.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Belongs to the ribosomal protein S9P family. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) RNA binding structural constituent of ribosome protein binding nucleoplasm cytosol ribosome focal adhesion rRNA processing translation translational initiation SRP-dependent cotranslational protein targeting to membrane small ribosomal subunit membrane viral transcription cytosolic small ribosomal subunit ribosomal small subunit biogenesis extracellular exosome uc002olk.1 uc002olk.2 uc002olk.3 uc002olk.4 uc002olk.5 
ENST00000251472.9 MAST1 ENST00000251472.9 Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA. (from RefSeq NM_014975) ENST00000251472.1 ENST00000251472.2 ENST00000251472.3 ENST00000251472.4 ENST00000251472.5 ENST00000251472.6 ENST00000251472.7 ENST00000251472.8 KIAA0973 MAST1_HUMAN NM_014975 O00114 Q8N6X0 Q9Y2H9 SAST uc002mvm.1 uc002mvm.2 uc002mvm.3 uc002mvm.4 uc002mvm.5 This gene is a member of the microtubule-associated serine/threonine kinase (MAST) family. The protein encoded by this gene has an N-terminal serine/threonine kinase domain followed by a postsynaptic density protein-95/discs large/zona occludens-1 (PDZ) domain. In mouse and rat, the orthologous protein associates with the cytoskeleton and can bind both beta-2-syntrophin and neuronal nitric oxide synthase (nNOS) through its PDZ domain. In mouse and rat, this protein also co-localizes with dystrophin- and utrophin-associated protein complexes (DAPC/UAPC) in the vascular endothelium of the central nervous system. [provided by RefSeq, May 2017]. ##Evidence-Data-START## Transcript exon combination :: AB023190.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145743, SAMEA2154665 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000251472.9/ ENSP00000251472.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins (By similarity). ATP + a protein = ADP + a phosphoprotein. Magnesium (By similarity). Part of a low affinity complex that associates with, but is distinct from, the postsynaptic density. Interacts with SNTB2 (By similarity). P00533:EGFR; NbExp=2; IntAct=EBI-3385920, EBI-297353; Cell membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=Colocalizes with syntrophins at the cell membrane (By similarity). Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. Contains 1 AGC-kinase C-terminal domain. Contains 1 PDZ (DHR) domain. Contains 1 protein kinase domain. Sequence=AAB51171.1; Type=Erroneous gene model prediction; Sequence=AAH27985.2; Type=Erroneous initiation; Sequence=BAA76817.1; Type=Erroneous initiation; nucleotide binding magnesium ion binding protein kinase activity protein serine/threonine kinase activity protein binding ATP binding cytoplasm cytoskeleton plasma membrane protein phosphorylation cytoskeleton organization brain development microtubule binding membrane kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation axon dendrite intracellular signal transduction cell projection neuron projection neuronal cell body metal ion binding uc002mvm.1 uc002mvm.2 uc002mvm.3 uc002mvm.4 uc002mvm.5 
ENST00000251473.9 PLPPR2 ENST00000251473.9 Homo sapiens phospholipid phosphatase related 2 (PLPPR2), transcript variant 1, mRNA. (from RefSeq NM_022737) ENST00000251473.1 ENST00000251473.2 ENST00000251473.3 ENST00000251473.4 ENST00000251473.5 ENST00000251473.6 ENST00000251473.7 ENST00000251473.8 LPPR2 LPPR2_HUMAN NM_022737 PRG4 Q5CZ76 Q8N1U4 Q96GM1 Q9H929 uc002mre.1 uc002mre.2 A 1,2-diacylglycerol 3-phosphate + H(2)O = a 1,2-diacyl-sn-glycerol + phosphate. Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96GM1-1; Sequence=Displayed; Name=2; IsoId=Q96GM1-2; Sequence=VSP_031010, VSP_031011; Belongs to the PA-phosphatase related phosphoesterase family. integral component of plasma membrane phospholipid metabolic process phosphatidate phosphatase activity membrane integral component of membrane hydrolase activity phosphatase activity lipid phosphatase activity phospholipid dephosphorylation uc002mre.1 uc002mre.2 
ENST00000251481.11 SULT1C2 ENST00000251481.11 Homo sapiens sulfotransferase family 1C member 2 (SULT1C2), transcript variant 1, mRNA. (from RefSeq NM_001056) B2R813 ENST00000251481.1 ENST00000251481.10 ENST00000251481.2 ENST00000251481.3 ENST00000251481.4 ENST00000251481.5 ENST00000251481.6 ENST00000251481.7 ENST00000251481.8 ENST00000251481.9 NM_001056 O00338 Q53SG4 ST1C2_HUMAN SULT1C1 uc002tdy.1 uc002tdy.2 uc002tdy.3 uc002tdy.4 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that belongs to the SULT1 subfamily, responsible for transferring a sulfo moiety from PAPS to phenol-containing compounds. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of drugs, xenobiotic compounds, hormones, and neurotransmitters. May be involved in the activation of carcinogenic hyroxylamines. Shows activity towards p-nitrophenol and N-hydroxy-2-acetylamino-fluorene (N-OH-2AAF). Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=Short; IsoId=O00338-1; Sequence=Displayed; Name=Long; IsoId=O00338-2; Sequence=VSP_006303; Found in adult stomach, kidney and thyroid gland, and in fetal kidney and liver. Belongs to the sulfotransferase 1 family. protein binding cytoplasm cytosol sulfotransferase activity amine metabolic process transferase activity 3'-phosphoadenosine 5'-phosphosulfate metabolic process sulfation uc002tdy.1 uc002tdy.2 uc002tdy.3 uc002tdy.4 
ENST00000251496.7 NCAPG ENST00000251496.7 Homo sapiens non-SMC condensin I complex subunit G (NCAPG), transcript variant 1, mRNA. (from RefSeq NM_022346) CAPG CND3_HUMAN ENST00000251496.1 ENST00000251496.2 ENST00000251496.3 ENST00000251496.4 ENST00000251496.5 ENST00000251496.6 NM_022346 NYMEL3 Q3MJE0 Q96SV9 Q9BPX3 Q9BUR3 Q9BVY1 Q9H914 Q9H9Z6 Q9HBI9 uc003gpp.1 uc003gpp.2 uc003gpp.3 uc003gpp.4 uc003gpp.5 uc003gpp.6 This gene encodes a subunit of the condensin complex, which is responsible for the condensation and stabilization of chromosomes during mitosis and meiosis. Phosphorylation of the encoded protein activates the condensin complex. There are pseudogenes for this gene on chromosomes 8 and 15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases. Component of the condensin complex, which contains the SMC2 and SMC4 heterodimer, and three non SMC subunits that probably regulate the complex: NCAPH/BRRN1, NCAPD2/CAPD2 and NCAPG. Nucleus. Cytoplasm. Chromosome. Note=In interphase cells, the majority of the condensin complex is found in the cytoplasm, while a minority of the complex is associated with chromatin. A subpopulation of the complex however remains associated with chromosome foci in interphase cells. During mitosis, most of the condensin complex is associated with the chromatin. At the onset of prophase, the regulatory subunits of the complex are phosphorylated by CDK1, leading to condensin's association with chromosome arms and to chromosome condensation. Dissociation from chromosomes is observed in late telophase. Highly expressed in testis. Phosphorylated by CDK1. Its phosphorylation, as well as that of NCAPD2 and NCAPH subunits, activates the condensin complex and is required for chromosome condensation (By similarity). Overexpressed in some cancer lines and some tumor cells. Belongs to the CND3 (condensin subunit 3) family. Contains 10 HEAT repeats. Sequence=AAH00827.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB14429.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB55165.1; Type=Erroneous initiation; Note=Translation N-terminally extended; condensed chromosome, centromeric region condensed chromosome condensin complex protein binding nucleus chromosome cytoplasm cytosol cell cycle mitotic chromosome condensation membrane chromosome condensation cell division uc003gpp.1 uc003gpp.2 uc003gpp.3 uc003gpp.4 uc003gpp.5 uc003gpp.6 
ENST00000251507.8 RABGAP1L ENST00000251507.8 Homo sapiens RAB GTPase activating protein 1 like (RABGAP1L), transcript variant 1, mRNA. (from RefSeq NM_014857) ENST00000251507.1 ENST00000251507.2 ENST00000251507.3 ENST00000251507.4 ENST00000251507.5 ENST00000251507.6 ENST00000251507.7 HHL KIAA0471 NM_014857 O75059 Q3ZTR8 Q5R369 Q5R372 Q8IVV0 Q8N921 Q8WV78 Q9NSP8 Q9UQ19 Q9UQP5 Q9Y6Y5 Q9Y6Y6 RBG1L_HUMAN uc001gjx.1 uc001gjx.2 uc001gjx.3 uc001gjx.4 Event=Alternative splicing; Named isoforms=10; Name=1; IsoId=Q5R372-1; Sequence=Displayed; Name=2; IsoId=Q5R372-2; Sequence=VSP_052916, VSP_052919, VSP_052920; Name=3; IsoId=Q5R372-3; Sequence=VSP_052917; Name=4; IsoId=Q5R372-4; Sequence=VSP_052918; Name=5; IsoId=Q5R372-5; Sequence=VSP_052915, VSP_035087, VSP_052924; Name=6; IsoId=Q5R372-6; Sequence=VSP_052915, VSP_052921, VSP_052924; Name=7; IsoId=Q5R372-7; Sequence=VSP_052913, VSP_052924; Name=8; IsoId=Q5R372-8; Sequence=VSP_052914, VSP_052922, VSP_052924; Name=9; IsoId=Q5R372-9; Sequence=VSP_052912, VSP_052923; Name=10; Synonyms=D; IsoId=B7ZAP0-1; Sequence=External; Up-regulated in esophageal squamous cell carcinomas. Expression is strongly inhibited in the medial septum and hippocampus brain regions of some Alzheimer disease patients. Contains 1 PID domain. Contains 1 Rab-GAP TBC domain. Sequence=BAA32316.2; Type=Erroneous initiation; GTPase activator activity protein binding nucleus endosome early endosome Golgi apparatus intracellular protein transport endocytosis protein transport Rab GTPase binding cytoplasmic vesicle regulation of protein localization activation of GTPase activity uc001gjx.1 uc001gjx.2 uc001gjx.3 uc001gjx.4 
ENST00000251535.11 ALOX12 ENST00000251535.11 Homo sapiens arachidonate 12-lipoxygenase, 12S type (ALOX12), mRNA. (from RefSeq NM_000697) ENST00000251535.1 ENST00000251535.10 ENST00000251535.2 ENST00000251535.3 ENST00000251535.4 ENST00000251535.5 ENST00000251535.6 ENST00000251535.7 ENST00000251535.8 ENST00000251535.9 LOG12 LOX12_HUMAN NM_000697 O95569 P18054 Q6ISF8 Q9UQM4 uc002gdx.1 uc002gdx.2 uc002gdx.3 uc002gdx.4 uc002gdx.5 This gene encodes a member of the lipoxygenase family of proteins. The encoded enzyme acts on different polyunsaturated fatty acid substrates to generate bioactive lipid mediators including eicosanoids and lipoxins. The encoded enzyme and its reaction products have been shown to regulate platelet function. Elevated expression of this gene has been observed in pancreatic islets derived from human diabetes patients. Allelic variants in this gene may be associated with susceptibility to toxoplasmosis. Multiple pseudogenes of this gene 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 :: M62982.1, M35418.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145893, SAMEA2147975 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000251535.11/ ENSP00000251535.6 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Oxygenase and 14,15-leukotriene A4 synthase activity. Arachidonate + O(2) = (5Z,8Z,10E,14Z)-(12S)- 12-hydroperoxyicosa-5,8,10,14-tetraenoate. Binds 1 iron ion per subunit. Lipid metabolism; leukotriene D4 biosynthesis. P13647:KRT5; NbExp=7; IntAct=EBI-1633210, EBI-702187; P02545:LMNA; NbExp=4; IntAct=EBI-1633210, EBI-351935; Cytoplasm. Belongs to the lipoxygenase family. Contains 1 lipoxygenase domain. Contains 1 PLAT domain. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/alox12/"; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ALOX12ID620ch17p13.html"; arachidonate 12-lipoxygenase activity iron ion binding protein binding cytoplasm cytosol lipid metabolic process fatty acid metabolic process aging positive regulation of gene expression negative regulation of muscle cell apoptotic process positive regulation of cell death membrane linoleate 13S-lipoxygenase activity oxidoreductase activity oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen hydrolase activity arachidonic acid metabolic process lipoxygenase pathway fatty acid oxidation unsaturated fatty acid metabolic process sarcolemma superoxide anion generation long-chain fatty acid biosynthetic process positive regulation of apoptotic process negative regulation of apoptotic process positive regulation of cysteine-type endopeptidase activity involved in apoptotic process positive regulation of blood vessel endothelial cell migration linoleic acid metabolic process metal ion binding hepoxilin-epoxide hydrolase activity positive regulation of smooth muscle cell proliferation arachidonate 15-lipoxygenase activity hepoxilin metabolic process hepoxilin biosynthetic process dioxygenase activity positive regulation of mitochondrial depolarization oxidation-reduction process establishment of skin barrier extracellular exosome cellular response to lipid negative regulation of platelet aggregation leukotriene A4 metabolic process lipoxin biosynthetic process lipoxin A4 biosynthetic process lipoxin B4 biosynthetic process uc002gdx.1 uc002gdx.2 uc002gdx.3 uc002gdx.4 uc002gdx.5 
ENST00000251566.9 UGT2A3 ENST00000251566.9 Homo sapiens UDP glucuronosyltransferase family 2 member A3 (UGT2A3), transcript variant 2, non-coding RNA. (from RefSeq NR_024010) ENST00000251566.1 ENST00000251566.2 ENST00000251566.3 ENST00000251566.4 ENST00000251566.5 ENST00000251566.6 ENST00000251566.7 ENST00000251566.8 NR_024010 Q6UWM9 Q9H6S4 UD2A3_HUMAN UNQ2559/PRO6239 uc003hef.1 uc003hef.2 uc003hef.3 uc003hef.4 UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity). UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside. Membrane; Single-pass type I membrane protein (Potential). Belongs to the UDP-glycosyltransferase family. Sequence=BAB15179.1; Type=Erroneous initiation; Note=Translation N-terminally extended; UDP-glycosyltransferase activity glucuronosyltransferase activity membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups transferase activity, transferring hexosyl groups intracellular membrane-bounded organelle cellular glucuronidation uc003hef.1 uc003hef.2 uc003hef.3 uc003hef.4 
ENST00000251582.12 ADAMTS2 ENST00000251582.12 Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif 2 (ADAMTS2), transcript variant 1, mRNA. (from RefSeq NM_014244) ATS2_HUMAN ENST00000251582.1 ENST00000251582.10 ENST00000251582.11 ENST00000251582.2 ENST00000251582.3 ENST00000251582.4 ENST00000251582.5 ENST00000251582.6 ENST00000251582.7 ENST00000251582.8 ENST00000251582.9 NM_014244 O95450 PCINP PCPNI uc003mjw.1 uc003mjw.2 uc003mjw.3 uc003mjw.4 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]. Cleaves the propeptides of type I and II collagen prior to fibril assembly. Does not act on type III collagen. May also play a role in development that is independent of its role in collagen biosynthesis. Cleaves the N-propeptide of collagen chain alpha-1(I) at Pro-|-Gln and of alpha-1(II) and alpha-2(I) at Ala-|-Gln. Binds 1 zinc ion per subunit (By similarity). May belong to a multimeric complex. Binds specifically to collagen type XIV (By similarity). Secreted, extracellular space, extracellular matrix (By similarity). Event=Alternative splicing; Named isoforms=2; Name=LpNPI; IsoId=O95450-1; Sequence=Displayed; Name=SpNPI; IsoId=O95450-2; Sequence=VSP_005497, VSP_005498; Note=Has no significant N-procollagen peptidase activity; Expressed at high level in skin, bone, tendon and aorta and at low levels in thymus and brain. The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular matrix. The precursor is cleaved by a furin endopeptidase (By similarity). Defects in ADAMTS2 are the cause of Ehlers-Danlos syndrome type 7C (EDS7C) [MIM:225410]. EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS7C is marked by extremely fragile tissues, hyperextensible skin and easy bruising. Facial skin contains numerous folds, as in the cutis laxa syndrome. Contains 1 disintegrin domain. Contains 1 peptidase M12B domain. Contains 1 PLAC domain. Contains 4 TSP type-1 domains. Has sometimes been referred to as ADAMTS3. metalloendopeptidase activity extracellular region proteolysis spermatogenesis peptidase activity metallopeptidase activity zinc ion binding protein processing hydrolase activity collagen fibril organization lung development collagen catabolic process extracellular matrix skin development metal ion binding uc003mjw.1 uc003mjw.2 uc003mjw.3 uc003mjw.4 
ENST00000251588.7 CIAO3 ENST00000251588.7 Homo sapiens cytosolic iron-sulfur assembly component 3 (CIAO3), transcript variant 1, mRNA. (from RefSeq NM_022493) A1L385 B3KTJ3 ENST00000251588.1 ENST00000251588.2 ENST00000251588.3 ENST00000251588.4 ENST00000251588.5 ENST00000251588.6 NARFL NARFL_HUMAN NM_022493 PRN Q53GC6 Q96S10 Q9H6J8 Q9H6Q4 uc002cjr.1 uc002cjr.2 uc002cjr.3 uc002cjr.4 uc002cjr.5 Component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins. Seems to negatively regulate the level of HIF1A expression, although this effect could be indirect. Component of the CIA complex. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9H6Q4-1; Sequence=Displayed; Name=2; IsoId=Q9H6Q4-2; Sequence=VSP_025694; Name=3; IsoId=Q9H6Q4-3; Sequence=VSP_025695; Widely expressed. Belongs to the NARF family. Sequence=AAK61251.1; Type=Erroneous gene model prediction; response to hypoxia hematopoietic progenitor cell differentiation protein binding regulation of gene expression iron-sulfur cluster assembly oxygen homeostasis metal ion binding iron-sulfur cluster binding 4 iron, 4 sulfur cluster binding CIA complex uc002cjr.1 uc002cjr.2 uc002cjr.3 uc002cjr.4 uc002cjr.5 
ENST00000251595.11 HBA2 ENST00000251595.11 Homo sapiens hemoglobin subunit alpha 2 (HBA2), mRNA. (from RefSeq NM_000517) ENST00000251595.1 ENST00000251595.10 ENST00000251595.2 ENST00000251595.3 ENST00000251595.4 ENST00000251595.5 ENST00000251595.6 ENST00000251595.7 ENST00000251595.8 ENST00000251595.9 HBA1 HBA_HUMAN NM_000517 P01922 P69905 Q1HDT5 Q3MIF5 Q53F97 Q96KF1 Q9NYR7 Q9UCM0 uc002cfv.1 uc002cfv.2 uc002cfv.3 uc002cfv.4 uc002cfv.5 The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AI816040.1, AI815806.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000251595.11/ ENSP00000251595.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in oxygen transport from the lung to the various peripheral tissues. Heterotetramer of two alpha chains and two beta chains in adult hemoglobin A (HbA); two alpha chains and two delta chains in adult hemoglobin A2 (HbA2); two alpha chains and two epsilon chains in early embryonic hemoglobin Gower-2; two alpha chains and two gamma chains in fetal hemoglobin F (HbF). P68871:HBB; NbExp=19; IntAct=EBI-714680, EBI-715554; Red blood cells. The initiator Met is not cleaved in variant Thionville and is acetylated. Defects in HBA1 may be a cause of Heinz body anemias (HEIBAN) [MIM:140700]. This is a form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency. Defects in HBA1 are the cause of alpha-thalassemia (A- THAL) [MIM:604131]. The thalassemias are the most common monogenic diseases and occur mostly in Mediterranean and Southeast Asian populations. The hallmark of alpha-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. The level of alpha chain production can range from none to very nearly normal levels. Deletion of both copies of each of the two alpha-globin genes causes alpha(0)-thalassemia, also known as homozygous alpha thalassemia. Due to the complete absence of alpha chains, the predominant fetal hemoglobin is a tetramer of gamma-chains (Bart hemoglobin) that has essentially no oxygen carrying capacity. This causes oxygen starvation in the fetal tissues leading to prenatal lethality or early neonatal death. The loss of three alpha genes results in high levels of a tetramer of four beta chains (hemoglobin H), causing a severe and life-threatening anemia known as hemoglobin H disease. Untreated, most patients die in childhood or early adolescence. The loss of two alpha genes results in mild alpha-thalassemia, also known as heterozygous alpha-thalassemia. Affected individuals have small red cells and a mild anemia (microcytosis). If three of the four alpha-globin genes are functional, individuals are completely asymptomatic. Some rare forms of alpha-thalassemia are due to point mutations (non- deletional alpha-thalassemia). The thalassemic phenotype is due to unstable globin alpha chains that are rapidly catabolized prior to formation of the alpha-beta heterotetramers. Note=Alpha(0)-thalassemia is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non- immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders. Defects in HBA1 are the cause of hemoglobin H disease (HBH) [MIM:613978]. HBH is a form of alpha-thalassemia due to the loss of three alpha genes. This results in high levels of a tetramer of four beta chains (hemoglobin H), causing a severe and life-threatening anemia. Untreated, most patients die in childhood or early adolescence. Gives blood its red color. Belongs to the globin family. Sequence=BAD97112.1; Type=Erroneous initiation; Name=HbVar; Note=Human hemoglobin variants and thalassemias; URL="http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBA1"; Name=HbVar; Note=Human hemoglobin variants and thalassemias; URL="http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBA2"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HBA1"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HBA2"; Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=HBA1"; Name=Wikipedia; Note=Hemoglobin entry; URL="http://en.wikipedia.org/wiki/Hemoglobin"; oxygen transporter activity iron ion binding protein binding extracellular region extracellular space cytosol hemoglobin complex receptor-mediated endocytosis positive regulation of cell death oxygen transport bicarbonate transport membrane oxygen binding heme binding cytosolic small ribosomal subunit haptoglobin-hemoglobin complex response to hydrogen peroxide hydrogen peroxide catabolic process organic acid binding metal ion binding extracellular exosome endocytic vesicle lumen blood microparticle cellular oxidant detoxification peroxidase activity haptoglobin binding uc002cfv.1 uc002cfv.2 uc002cfv.3 uc002cfv.4 uc002cfv.5 
ENST00000251636.10 DHX29 ENST00000251636.10 Homo sapiens DExH-box helicase 29 (DHX29), transcript variant 6, non-coding RNA. (from RefSeq NR_144325) DDX29 DHX29_HUMAN ENST00000251636.1 ENST00000251636.2 ENST00000251636.3 ENST00000251636.4 ENST00000251636.5 ENST00000251636.6 ENST00000251636.7 ENST00000251636.8 ENST00000251636.9 NR_144325 O75549 Q63HN0 Q63HN3 Q7Z478 Q8IWW2 Q8N3A1 Q9UMH2 uc003jpx.1 uc003jpx.2 uc003jpx.3 uc003jpx.4 uc003jpx.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 functions in translation initiation, and is specifically required for ribosomal scanning across stable mRNA secondary structures during initiation codon selection. This protein may also play a role in sensing virally derived cytosolic nucleic acids. Knockdown of this gene results in reduced protein translation and impaired proliferation of cancer cells. [provided by RefSeq, Sep 2016]. ATP-binding RNA helicase involved in translation initiation. Required for efficient initiation on mammalian mRNAs with structured 5'-UTRs by promoting efficient NTPase-dependent 48S complex formation. Specifically binds to the 40S ribosome near the mRNA entrance. Does not possess a processive helicase activity. ATP + H(2)O = ADP + phosphate. Cytoplasm (Probable). Belongs to the DEAD box helicase family. DEAH subfamily. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain. nucleotide binding nucleic acid binding RNA binding RNA helicase activity translation initiation factor activity helicase activity ATP binding cytoplasm translation translational initiation eukaryotic 43S preinitiation complex hydrolase activity hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides ribosomal small subunit binding cadherin binding positive regulation of translational initiation uc003jpx.1 uc003jpx.2 uc003jpx.3 uc003jpx.4 uc003jpx.5 
ENST00000251642.8 DHX58 ENST00000251642.8 Homo sapiens DExH-box helicase 58 (DHX58), mRNA. (from RefSeq NM_024119) D11LGP2E DHX58_HUMAN ENST00000251642.1 ENST00000251642.2 ENST00000251642.3 ENST00000251642.4 ENST00000251642.5 ENST00000251642.6 ENST00000251642.7 LGP2 NM_024119 Q96C10 Q9HAM6 uc002hyw.1 uc002hyw.2 uc002hyw.3 uc002hyw.4 uc002hyw.5 uc002hyw.6 Acts as a regulator of DDX58/RIG-I and IFIH1/MDA5 mediated antiviral signaling. Cannot initiate antiviral signaling as it lacks the CARD domain required for activating MAVS/IPS1- dependent signaling events. Can have both negative and positive regulatory functions related to DDX58/RIG-I and IFIH1/MDA5 signaling and this role in regulating signaling may be complex and could probably depend on characteristics of the infecting virus or target cells, or both. Its inhibitory action on DDX58/RIG-I signaling may involve the following mechanisms: competition with DDX58/RIG-I for binding to the viral RNA, binding to DDX58/RIG-I and inhibiting its dimerization and interaction with MAVS/IPS1, competing with IKBKE in its binding to MAVS/IPS1 thereby inhibiting activation of interferon regulatory factor 3 (IRF3). Its positive regulatory role may involve unwinding or stripping nucleoproteins of viral RNA thereby facilitating their recognition by DDX58/RIG-I and IFIH1/MDA5. Involved in the innate immune response to various RNA viruses and some DNA viruses such as poxviruses, and also to the bacterial pathogen Listeria monocytogenes. Can bind both ssRNA and dsRNA, with a higher affinity for dsRNA. Shows a preference to 5'-triphosphorylated RNA, although it can recognize RNA lacking a 5'-triphosphate. ATP + H(2)O = ADP + phosphate. Zinc. Monomer in the absence of dsRNA. Homodimer in the presence of dsRNA. Interacts with DDX58/RIG-I (via CARD domain), MAVS/IPS1 and DDX60. Found in a complex with DDX58/RIG-I and IFIH1/MDA5. Interacts (via helicase C-terminal domain) with non- structural protein V of Human parainfluenza 2 virus, Human parainfluenza 5 virus, measles virus, mumps virus, hendra virus and nipah virus. Q7L2E3:DHX30; NbExp=2; IntAct=EBI-744193, EBI-1211456; Q9UPY3:DICER1; NbExp=2; IntAct=EBI-744193, EBI-395506; P19525:EIF2AK2; NbExp=2; IntAct=EBI-744193, EBI-640775; Q9UKV8:EIF2C2; NbExp=2; IntAct=EBI-744193, EBI-528269; P56537:EIF6; NbExp=2; IntAct=EBI-744193, EBI-372243; O15226:NKRF; NbExp=2; IntAct=EBI-744193, EBI-766011; Q9NUL3:STAU2; NbExp=2; IntAct=EBI-744193, EBI-722938; Cytoplasm. By interferon (IFN), virus infection, or intracellular dsRNA. The repressor domain is capable of inhibiting dimerization and signaling of DDX58/RIG-I and also facilitates binding of dsRNA. Belongs to the helicase family. RLR subfamily. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain. nucleotide binding immune system process DNA binding RNA binding RNA helicase activity double-stranded RNA binding single-stranded RNA binding helicase activity protein binding ATP binding cytoplasm zinc ion binding response to virus response to bacterium viral process hydrolase activity negative regulation of type I interferon production positive regulation of type I interferon production negative regulation of MDA-5 signaling pathway negative regulation of RIG-I signaling pathway innate immune response regulation of innate immune response negative regulation of innate immune response metal ion binding defense response to virus positive regulation of MDA-5 signaling pathway positive regulation of RIG-I signaling pathway uc002hyw.1 uc002hyw.2 uc002hyw.3 uc002hyw.4 uc002hyw.5 uc002hyw.6 
ENST00000251643.5 KRT12 ENST00000251643.5 Homo sapiens keratin 12 (KRT12), mRNA. (from RefSeq NM_000223) B2R9E0 ENST00000251643.1 ENST00000251643.2 ENST00000251643.3 ENST00000251643.4 K1C12_HUMAN NM_000223 Q99456 uc285nzz.1 KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: D78367.1, AK313747.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000251643.5/ ENSP00000251643.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May play a unique role in maintaining the normal corneal epithelial function. Together with KRT3, essential for the maintenance of corneal epithelium integrity (By similarity). Heterotetramer of two type I and two type II keratins. Keratin-3 associates with keratin-12. Cornea specific. Defects in KRT12 are a cause of Meesmann corneal dystrophy (MECD) [MIM:122100]; also abbreviated MCD and known as juvenile epithelial corneal dystrophy of Meesmann. MECD is an autosomal dominant disease that causes fragility of the anterior corneal epithelium. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris-laden intraepithelial cysts. 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=Wikipedia; Note=Keratin-12 entry; URL="http://en.wikipedia.org/wiki/Keratin_12"; structural molecule activity cytosol intermediate filament visual perception keratinization extracellular exosome cornification uc285nzz.1 
ENST00000251645.3 KRT31 ENST00000251645.3 Homo sapiens keratin 31 (KRT31), mRNA. (from RefSeq NM_002277) ENST00000251645.1 ENST00000251645.2 HHA1 HKA1 K1H1_HUMAN KRTHA1 NM_002277 Q15323 Q9UE12 uc002hwn.1 uc002hwn.2 uc002hwn.3 uc002hwn.4 uc002hwn.5 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1002028.1, X86570.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968968, SAMEA1970526 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000251645.3/ ENSP00000251645.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Present in scalp but not in hairless skin. Abundantly expressed in the differentiating cortex of growing (anagen) hair. Expression is restricted to the keratinocytes of the hair cortex and is absent from inner root sheath and medulla. There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic). Belongs to the intermediate filament family. structural molecule activity structural constituent of cytoskeleton protein binding extracellular space cytosol intermediate filament cytoskeleton organization epidermis development keratinization extracellular exosome cornification uc002hwn.1 uc002hwn.2 uc002hwn.3 uc002hwn.4 uc002hwn.5 
ENST00000251646.8 KRT33B ENST00000251646.8 Homo sapiens keratin 33B (KRT33B), mRNA. (from RefSeq NM_002279) ENST00000251646.1 ENST00000251646.2 ENST00000251646.3 ENST00000251646.4 ENST00000251646.5 ENST00000251646.6 ENST00000251646.7 HHA3-II HKA3B KRTHA3B KT33B_HUMAN NM_002279 O76010 Q14525 uc002hwl.1 uc002hwl.2 uc002hwl.3 uc002hwl.4 uc002hwl.5 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC009971.2, X82634.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968968, SAMEA2147975 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000251646.8/ ENSP00000251646.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic). Belongs to the intermediate filament family. structural molecule activity protein binding extracellular space cytosol intermediate filament aging keratinization hair cycle extracellular exosome cornification uc002hwl.1 uc002hwl.2 uc002hwl.3 uc002hwl.4 uc002hwl.5 
ENST00000251691.5 ARFGEF3 ENST00000251691.5 Homo sapiens ARFGEF family member 3 (ARFGEF3), mRNA. (from RefSeq NM_020340) BIG3 BIG3_HUMAN C6orf92 ENST00000251691.1 ENST00000251691.2 ENST00000251691.3 ENST00000251691.4 KIAA1244 NM_020340 Q5TH69 Q76MU8 Q8N4Y4 Q96CH9 Q96P46 Q9ULH6 uc003qhu.1 uc003qhu.2 uc003qhu.3 uc003qhu.4 uc003qhu.5 Membrane; Single-pass membrane protein (Potential). Contains 1 SEC7 domain. guanyl-nucleotide exchange factor activity ARF guanyl-nucleotide exchange factor activity cytoplasm negative regulation of phosphatase activity membrane integral component of membrane actin cytoskeleton organization transport vesicle transport vesicle membrane cytoplasmic vesicle regulation of ARF protein signal transduction uc003qhu.1 uc003qhu.2 uc003qhu.3 uc003qhu.4 uc003qhu.5 
ENST00000251775.9 SNX4 ENST00000251775.9 Homo sapiens sorting nexin 4 (SNX4), transcript variant 2, non-coding RNA. (from RefSeq NR_073435) B3KMH0 D3DNA3 ENST00000251775.1 ENST00000251775.2 ENST00000251775.3 ENST00000251775.4 ENST00000251775.5 ENST00000251775.6 ENST00000251775.7 ENST00000251775.8 NR_073435 O95219 SNX4_HUMAN uc003eib.1 uc003eib.2 uc003eib.3 uc003eib.4 uc003eib.5 uc003eib.6 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associated with the long isoform of the leptin receptor and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor in cell cultures, but its function is unknown. This protein may form oligomeric complexes with family members. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2012]. May be involved in several stages of intracellular trafficking. Plays a role in recycling endocytosed transferrin receptor and prevent its degradation. Interacts with WWC1/KIBRA. Identified in a complex with WWC1/KIBRA and dynein components DYNLL1 and DYNC1I2. Early endosome membrane; Peripheral membrane protein; Cytoplasmic side. Note=Also detected on a juxtanuclear endocytic recycling compartment (ERC). The PX domain binds phosphatidylinositol 3-phosphate which is necessary for peripheral membrane localization. Belongs to the sorting nexin family. Contains 1 PX (phox homology) domain. epidermal growth factor receptor binding insulin receptor binding protein binding cytoplasm endosome early endosome cytoplasmic dynein complex plasma membrane lipid binding protein transport membrane SNARE complex early endosome membrane endocytic recycling macromolecular complex phosphatidylinositol binding positive regulation of histamine secretion by mast cell transferrin receptor binding leptin receptor binding uc003eib.1 uc003eib.2 uc003eib.3 uc003eib.4 uc003eib.5 uc003eib.6 
ENST00000251776.8 ROPN1B ENST00000251776.8 Homo sapiens rhophilin associated tail protein 1B (ROPN1B), transcript variant 2, mRNA. (from RefSeq NM_001012337) D3DNA6 ENST00000251776.1 ENST00000251776.2 ENST00000251776.3 ENST00000251776.4 ENST00000251776.5 ENST00000251776.6 ENST00000251776.7 NM_001012337 Q96BM7 Q9BZX4 ROP1B_HUMAN uc003eih.1 uc003eih.2 uc003eih.3 uc003eih.4 Homodimer. Interacts with RHPN1. May interact with SPA17 (By similarity). Interacts with AKAP3. Note=In the sperm tail, found in the principal piece and in the cytoplasmic droplet located at the distal end of the midpiece. Inner surface of the fibrous sheath (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BZX4-1; Sequence=Displayed; Name=2; IsoId=Q9BZX4-2; Sequence=VSP_028745; The RIIa domain mediates interaction with AKAP3. 'Ropporin' comes from the Japanese word 'oppo' which means 'tail'. Belongs to the ropporin family. Contains 1 RIIa domain. regulation of protein phosphorylation protein binding cytoplasm cilium Rho protein signal transduction spermatogenesis acrosome reaction fusion of sperm to egg plasma membrane positive regulation of signal transduction receptor signaling complex scaffold activity flagellated sperm motility motile cilium protein homodimerization activity cell projection cilium organization protein heterodimerization activity sperm capacitation protein localization to cilium cytoskeleton-dependent cytokinesis cell-cell adhesion uc003eih.1 uc003eih.2 uc003eih.3 uc003eih.4 
ENST00000251809.4 SPAG1 ENST00000251809.4 Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA. (from RefSeq NM_172218) A6NP70 ENST00000251809.1 ENST00000251809.2 ENST00000251809.3 NM_172218 Q07617 Q7Z5G1 SPAG1_HUMAN uc003yjh.1 uc003yjh.2 uc003yjh.3 The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm agglutinating antibodies from an infertile woman. Furthermore, immunization of female rats with the recombinant human protein reduced fertility. This protein localizes to the plasma membrane of germ cells in the testis and to the post-acrosomal plasma membrane of mature spermatozoa. Recombinant polypeptide binds GTP and exhibits GTPase activity. Thus, this protein may regulate GTP signal transduction pathways involved in spermatogenesis and fertilization. Two transcript variants of this gene encode the same protein. [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. Plays a role in fertilization. Binds GTP and has GTPase activity. Cytoplasm. Detected in sperm and testis, in particular in pachytene primary spermatocytes. Antibodies against SPAG1 interfere with fertilization (By similarity). Contains 9 TPR repeats. Sequence=AAH55091.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; nucleotide binding GTP binding cytoplasm cytosol single fertilization hydrolase activity axonemal dynein complex assembly uc003yjh.1 uc003yjh.2 uc003yjh.3 
ENST00000251810.8 RRM2B ENST00000251810.8 Homo sapiens ribonucleotide reductase regulatory TP53 inducible subunit M2B (RRM2B), transcript variant 1, mRNA. (from RefSeq NM_015713) ENST00000251810.1 ENST00000251810.2 ENST00000251810.3 ENST00000251810.4 ENST00000251810.5 ENST00000251810.6 ENST00000251810.7 NM_015713 P53R2 Q17R22 Q75PQ6 Q75PQ7 Q75PY8 Q75PY9 Q7LG56 Q86YE3 Q9NPD6 Q9NTD8 Q9NUW3 RIR2B_HUMAN uc003ykn.1 uc003ykn.2 uc003ykn.3 uc003ykn.4 uc003ykn.5 This gene encodes the small subunit of a p53-inducible ribonucleotide reductase. This heterotetrameric enzyme catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates. The product of this reaction is necessary for DNA synthesis. Mutations in this gene have been associated with autosomal recessive mitochondrial DNA depletion syndrome, autosomal dominant progressive external ophthalmoplegia-5, and mitochondrial neurogastrointestinal encephalopathy. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]. Plays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner. Supplies deoxyribonucleotides for DNA repair in cells arrested at G1 or G2. Contains an iron-tyrosyl free radical center required for catalysis. Forms an active ribonucleotide reductase (RNR) complex with RRM1 which is expressed both in resting and proliferating cells in response to DNA damage. 2'-deoxyribonucleoside diphosphate + thioredoxin disulfide + H(2)O = ribonucleoside diphosphate + thioredoxin. Binds 2 iron ions per subunit. Genetic information processing; DNA replication. Heterotetramer with large (RRM1) subunit. Interacts with p53/TP53. Interacts with RRM1 in response to DNA damage. Cytoplasm. Nucleus. Note=Translocates from cytoplasm to nucleus in response to DNA damage. Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q7LG56-1; Sequence=Displayed; Name=2; Synonyms=Long form; IsoId=Q7LG56-2; Sequence=VSP_017670; Name=3; Synonyms=Short form gamma; IsoId=Q7LG56-3; Sequence=VSP_017669; Name=4; Synonyms=Short form beta; IsoId=Q7LG56-4; Sequence=VSP_017668; Name=5; Synonyms=Short form; IsoId=Q7LG56-5; Sequence=VSP_017671, VSP_017672; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Widely expressed at a high level in skeletal muscle and at a weak level in thymus. Expressed in epithelial dysplasias and squamous cell carcinoma. In response to DNA damage in a wild-type p53/TP53- dependent manner. Defects in RRM2B are the cause of mitochondrial DNA depletion syndrome type 8A (MTDPS8A) [MIM:612075]. A disorder due to mitochondrial dysfunction characterized by various combinations of neonatal hypotonia, neurological deterioration, respiratory distress, lactic acidosis, and renal tubulopathy. Defects in RRM2B are the cause of mitochondrial DNA depletion syndrome type 8B (MTDPS8B) [MIM:612075]. A disease due to mitochondrial dysfunction and characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy. Defects in RRM2B are the cause of progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 5 (PEOA5) [MIM:613077]. A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Belongs to the ribonucleoside diphosphate reductase small chain family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/rrm2b/"; kidney development renal system process ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor protein binding nucleus nucleoplasm cytoplasm mitochondrion cytosol ribonucleoside-diphosphate reductase complex DNA replication mitochondrial DNA replication DNA repair cellular response to DNA damage stimulus response to oxidative stress deoxyribonucleoside triphosphate metabolic process deoxyribonucleotide biosynthetic process response to amine nucleobase-containing small molecule interconversion oxidoreductase activity metal ion binding oxidation-reduction process negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator uc003ykn.1 uc003ykn.2 uc003ykn.3 uc003ykn.4 uc003ykn.5 
ENST00000251822.7 RHOBTB2 ENST00000251822.7 Homo sapiens Rho related BTB domain containing 2 (RHOBTB2), transcript variant 3, mRNA. (from RefSeq NM_015178) D3DSR8 DBC2 ENST00000251822.1 ENST00000251822.2 ENST00000251822.3 ENST00000251822.4 ENST00000251822.5 ENST00000251822.6 KIAA0717 NM_015178 O94825 Q8N4A8 Q9BYZ6 Q9BZK6 RHBT2_HUMAN uc003xcq.1 uc003xcq.2 uc003xcq.3 uc003xcq.4 The protein encoded by this gene is a small Rho GTPase and a candidate tumor suppressor. The encoded protein interacts with the cullin-3 protein, a ubiquitin E3 ligase necessary for mitotic cell division. This protein inhibits the growth and spread of some types of breast cancer. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 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 :: AB018260.2, AY009093.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000251822.7/ ENSP00000251822.7 RefSeq Select criteria :: based on manual assertion, conservation, expression ##RefSeq-Attributes-END## Ubiquitous, with highest levels in neural tissues. Expression is also detected in fetal lung, heart, and brain. Belongs to the small GTPase superfamily. Rho family. Contains 2 BTB (POZ) domains. Sequence=BAA34437.2; Type=Erroneous initiation; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org//Genes/RHOBTB2ID42109ch8p21.html"; nucleotide binding GTPase activity protein binding GTP binding cytoplasm cytosol plasma membrane cell cortex actin filament organization small GTPase mediated signal transduction Rho protein signal transduction regulation of cell shape protein kinase binding regulation of cell migration establishment or maintenance of actin cytoskeleton polarity cell division site regulation of actin cytoskeleton organization intracellular membrane-bounded organelle actin filament bundle assembly regulation of small GTPase mediated signal transduction uc003xcq.1 uc003xcq.2 uc003xcq.3 uc003xcq.4 
ENST00000251864.7 TDRD1 ENST00000251864.7 Homo sapiens tudor domain containing 1 (TDRD1), transcript variant 1, mRNA. (from RefSeq NM_198795) A6NEN3 A6NMN2 B3KVI4 B4E2L5 D3DRC2 ENST00000251864.1 ENST00000251864.2 ENST00000251864.3 ENST00000251864.4 ENST00000251864.5 ENST00000251864.6 NM_198795 Q4G0Y8 Q6P518 Q9BXT4 Q9H7B3 TDRD1_HUMAN uc001lbg.1 uc001lbg.2 This gene encodes a protein containing a tudor domain that is thought to function in the suppression of transposable elements during spermatogenesis. The related protein in mouse forms a complex with piRNAs and Piwi proteins to promote methylation and silencing of target sequences. This gene was observed to be upregulated by ETS transcription factor ERG in prostate tumors. [provided by RefSeq, Sep 2018]. 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 :: AK122916.1, HM005506.1 [ECO:0000332] ##Evidence-Data-END## Plays a central role during spermatogenesis by participating in the repression transposable elements and prevent their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Required for the localization of Piwi proteins to the meiotic nuage. Involved in the piRNA metabolic process by ensuring the entry of correct transcripts into the normal piRNA pool and limiting the entry of cellular transcripts into the piRNA pathway. May act by allowing the recruitment of piRNA biogenesis or loading factors that ensure the correct entry of transcripts and piRNAs into Piwi proteins (By similarity). Found in a mRNP complex, at least composed of TDRD1, TDRD6, TDRD7 and DDX4. Interacts with MAEL. Interacts with PIWIL1, PIWIL2 and PIWIL4 (when methylated on arginine residues) (By similarity). Cytoplasm (By similarity). Note=Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon during meiosis (By similarity). Also present in chromatoid body (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9BXT4-1; Sequence=Displayed; Name=2; IsoId=Q9BXT4-2; Sequence=VSP_035481, VSP_035482; Name=3; IsoId=Q9BXT4-3; Sequence=VSP_036670; Note=No experimental confirmation available; Name=4; IsoId=Q9BXT4-4; Sequence=VSP_036667, VSP_036668, VSP_035481, VSP_036669; Note=No experimental confirmation available; Testis and ovary specific. Also expressed in several cancers. Belongs to the TDRD1 family. Contains 1 MYND-type zinc finger. Contains 4 Tudor domains. Sequence=AAH35010.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence; Sequence=AAK31985.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAK31985.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence; Sequence=BAB14982.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB14982.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence; protein binding cytoplasm multicellular organism development germ cell development spermatogenesis cell differentiation gene silencing by RNA chromatoid body piRNA metabolic process DNA methylation involved in gamete generation P granule metal ion binding meiotic cell cycle pi-body ribonucleoprotein complex uc001lbg.1 uc001lbg.2 
ENST00000251871.9 MED17 ENST00000251871.9 Homo sapiens mediator complex subunit 17 (MED17), mRNA. (from RefSeq NM_004268) ARC77 B3KN07 CRSP6 DRIP77 DRIP80 ENST00000251871.1 ENST00000251871.2 ENST00000251871.3 ENST00000251871.4 ENST00000251871.5 ENST00000251871.6 ENST00000251871.7 ENST00000251871.8 MED17_HUMAN NM_004268 Q9HA81 Q9NVC6 Q9UNP7 Q9Y2W0 Q9Y660 TRAP80 uc001pem.1 uc001pem.2 uc001pem.3 uc001pem.4 uc001pem.5 uc001pem.6 uc001pem.7 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [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 :: AK001674.1, SRR1803617.196289.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000251871.9/ ENSP00000251871.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Interacts with GATA1 and PPARG (By similarity). Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. Interacts with STAT2. Nucleus (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NVC6-1; Sequence=Displayed; Name=2; IsoId=Q9NVC6-2; Sequence=VSP_028115, VSP_028116; Ubiquitous. Phosphorylated upon DNA damage, probably by ATM or ATR. Defects in MED17 are the cause of microcephaly postnatal progressive with seizures and brain atrophy (MCPHSBA) [MIM:613668]. It is a disorder characterized by postnatal progressive microcephaly and severe developmental retardation associated with cerebral and cerebellar atrophy. Infants manifest swallowing difficulties leading to failure to thrive, jitteriness, poor visual fixation, truncal arching, seizures. There is no acquisition of developmental milestones and patients suffer from marked spasticity and profound retardation. Progressive microcephaly becomes evident few months after birth. Belongs to the Mediator complex subunit 17 family. Sequence=AAD30856.1; Type=Frameshift; Positions=333, 335, 341, 346; transcription cofactor activity transcription coactivator activity protein binding nucleus nucleoplasm transcription factor complex regulation of transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter membrane mediator complex ligand-dependent nuclear receptor transcription coactivator activity vitamin D receptor binding positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter thyroid hormone receptor binding core mediator complex uc001pem.1 uc001pem.2 uc001pem.3 uc001pem.4 uc001pem.5 uc001pem.6 uc001pem.7 
ENST00000251900.9 SCML2 ENST00000251900.9 Homo sapiens Scm polycomb group protein like 2 (SCML2), transcript variant 2, non-coding RNA. (from RefSeq NR_033717) ENST00000251900.1 ENST00000251900.2 ENST00000251900.3 ENST00000251900.4 ENST00000251900.5 ENST00000251900.6 ENST00000251900.7 ENST00000251900.8 NR_033717 Q5JXE6 Q86U98 Q8IWD0 Q8NDP2 Q9UGC5 Q9UQR0 SCML2_HUMAN uc004cyl.1 uc004cyl.2 uc004cyl.3 uc004cyl.4 This gene encodes a member of the Polycomb group proteins. These proteins form the Polycomb repressive complexes which are involved in transcriptional repression. The encoded protein binds histone peptides that are monomethylated at lysine residues and may be involved in regulating homeotic gene expression during development. [provided by RefSeq, Jun 2010]. Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development (By similarity). Nucleus (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UQR0-1; Sequence=Displayed; Name=2; IsoId=Q9UQR0-2; Sequence=VSP_010277; Note=No experimental confirmation available; Highly expressed in placenta, thymus and testis. Detected at lower levels in brain, liver, skeletal muscle, pancreas and ovary. Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the SCM family. Contains 2 MBT repeats. Contains 1 SAM (sterile alpha motif) domain. Sequence=AAH51913.1; Type=Erroneous initiation; DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated anatomical structure morphogenesis PcG protein complex uc004cyl.1 uc004cyl.2 uc004cyl.3 uc004cyl.4 
ENST00000251968.4 TSG101 ENST00000251968.4 Homo sapiens tumor susceptibility 101 (TSG101), mRNA. (from RefSeq NM_006292) ENST00000251968.1 ENST00000251968.2 ENST00000251968.3 NM_006292 Q99816 Q9BUM5 TS101_HUMAN uc001mor.1 uc001mor.2 uc001mor.3 uc001mor.4 uc001mor.5 The protein encoded by this gene belongs to a group of apparently inactive homologs of ubiquitin-conjugating enzymes. The gene product contains a coiled-coil domain that interacts with stathmin, a cytosolic phosphoprotein implicated in tumorigenesis. The protein may play a role in cell growth and differentiation and act as a negative growth regulator. In vitro steady-state expression of this tumor susceptibility gene appears to be important for maintenance of genomic stability and cell cycle regulation. Mutations and alternative splicing in this gene occur in high frequency in breast cancer and suggest that defects occur during breast cancer tumorigenesis and/or progression. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.185191.1, SRR1660807.220495.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000251968.4/ ENSP00000251968.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Binds to ubiquitinated cargo proteins and is required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs). Mediates the association between the ESCRT-0 and ESCRT-I complex. Required for completion of cytokinesis; the function requires CEP55. May be involved in cell growth and differentiation. Acts as a negative growth regulator. Involved in the budding of many viruses through an interaction with viral proteins that contain a late-budding motif P-[ST]-A-P. This interaction is essential for viral particle budding of numerous retroviruses. Component of the ESCRT-I complex (endosomal sorting complex required for transport I) which consists of TSG101, VPS28, a VPS37 protein (VPS37A to -D) and a FAM125/MVB12 protein (FAM125A or -B) in a 1:1:1:1 stoechiometry. Interacts with VPS37A, VPS37B and VPS37C. Interacts with ubiquitin, stathmin, GMCL, DMAP1 and AATF (By similarity). Interacts with HGS; the interaction mediates the association with the ESCRT-0 complex. Interacts with GGA1 and GGA3. Interacts (via UEV domain) with PDCD6IP/AIP1. Interacts with VPS28, SNF8 and VPS36. Self-associates. Interacts with FAM125A/MVB12A; the association appears to be mediated by the TSG101-VPS37 binary subcomplex. Interacts with VPS37D. Interacts with LRSAM1. Interacts with CEP55; the interaction is required for cytokinesis but not for viral budding. Interacts with PDCD6. Interacts with HIV-1 p6. Interacts with human spumavirus Gag. Interacts with HTLV-1 Gag. Interacts with Ebola virus VP40. Interacts with EIAV p9; the interaction has been shown in vitro. Interacts with MGRN1. Q9UER7:DAXX; NbExp=4; IntAct=EBI-346882, EBI-77321; Q99732:LITAF; NbExp=3; IntAct=EBI-346882, EBI-725647; Q9UK41:VPS28; NbExp=3; IntAct=EBI-346882, EBI-727424; Cytoplasm. Membrane; Peripheral membrane protein. Nucleus. Late endosome membrane; Peripheral membrane protein. Note=Mainly cytoplasmic. Membrane-associated when active and soluble when inactive. Depending on the stage of the cell cycle, detected in the nucleus. Colocalized with CEP55 in the midbody during cytokinesis. Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms seem to exist. Several shorter isoforms are detected in primary breast cancers and other tumors; Name=1; IsoId=Q99816-1; Sequence=Displayed; Name=2; IsoId=Q99816-2; Sequence=VSP_004440; Note=Detected in normal as well as cancer tissues; Heart, brain, placenta, lung, liver, skeletal, kidney and pancreas. The UEV domain is required for the interaction of the complex with ubiquitin. It also mediates the interaction with PTAP/PSAP motifs of HIV-1 P6 protein and human spumaretrovirus Gag protein. The coiled coil domain may interact with stathmin. The UEV domain binds ubiquitin and P-[ST]-A-P peptide motif independently. Monoubiquitinated at multiple sites by LRSAM1 and by MGRN1. Ubiquitination inactivates it, possibly by regulating its shuttling between an active membrane-bound protein and an inactive soluble form. Ubiquitination by MGRN1 requires the presence of UBE2D1. Belongs to the ubiquitin-conjugating enzyme family. UEV subfamily. Contains 1 SB (steadiness box) domain. Contains 1 UEV (ubiquitin E2 variant) domain. ESCRT I complex regulation of cell growth DNA binding transcription corepressor activity protein binding nucleus nucleolus cytoplasm endosome early endosome late endosome multivesicular body microtubule organizing center cytosol cytoskeleton plasma membrane cellular protein modification process protein monoubiquitination extracellular transport cell cycle cell cycle arrest negative regulation of epidermal growth factor-activated receptor activity negative regulation of cell proliferation endosome to lysosome transport endosome membrane protein transport membrane viral process endosomal transport macroautophagy viral life cycle cell differentiation keratinocyte differentiation ligand-dependent nuclear receptor transcription coactivator activity ubiquitin protein ligase binding early endosome membrane late endosome membrane multivesicular body assembly viral budding via host ESCRT complex regulation of growth negative regulation of epidermal growth factor receptor signaling pathway protein homodimerization activity ubiquitin binding ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway regulation of MAP kinase activity host cell macromolecular complex binding negative regulation of transcription, DNA-templated viral budding virion binding calcium-dependent protein binding cell division extracellular exosome intracellular transport of virus Flemming body autophagosome maturation positive regulation of viral release from host cell positive regulation of nucleic acid-templated transcription positive regulation of exosomal secretion regulation of extracellular exosome assembly positive regulation of viral budding via host ESCRT complex exosomal secretion positive regulation of ubiquitin-dependent endocytosis regulation of viral release from host cell uc001mor.1 uc001mor.2 uc001mor.3 uc001mor.4 uc001mor.5 
ENST00000252011.8 DHX35 ENST00000252011.8 Homo sapiens DEAH-box helicase 35 (DHX35), transcript variant 3, non-coding RNA. (from RefSeq NR_033905) A2RTX3 C20orf15 DDX35 DHX35_HUMAN ENST00000252011.1 ENST00000252011.2 ENST00000252011.3 ENST00000252011.4 ENST00000252011.5 ENST00000252011.6 ENST00000252011.7 NR_033905 Q5THR0 Q9H4H7 Q9H5Z1 Q9H6T6 uc002xjh.1 uc002xjh.2 uc002xjh.3 uc002xjh.4 uc002xjh.5 DEAD box proteins characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The function of this gene product which is a member of this family, has not been determined. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2010]. May be involved in pre-mRNA splicing. ATP + H(2)O = ADP + phosphate. Identified in the spliceosome C complex. Belongs to the DEAD box helicase family. DEAH subfamily. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain. Sequence=BAB15166.1; Type=Erroneous initiation; Note=Translation N-terminally extended; nucleotide binding mRNA splicing, via spliceosome in utero embryonic development RNA binding RNA helicase activity helicase activity ATP binding spliceosomal complex mRNA processing RNA splicing hydrolase activity catalytic step 2 spliceosome uc002xjh.1 uc002xjh.2 uc002xjh.3 uc002xjh.4 uc002xjh.5 
ENST00000252015.3 TRPC4AP ENST00000252015.3 Homo sapiens transient receptor potential cation channel subfamily C member 4 associated protein (TRPC4AP), transcript variant 1, mRNA. (from RefSeq NM_015638) C20orf188 E1P5Q1 ENST00000252015.1 ENST00000252015.2 NM_015638 Q8TEL6 Q96H82 Q9BVB8 Q9H429 Q9UFS6 TP4AP_HUMAN TRRP4AP uc002xbk.1 uc002xbk.2 uc002xbk.3 uc002xbk.4 uc002xbk.5 Substrate-specific adapter of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex required for cell cycle control. The DCX(TRUSS) complex specifically mediates the polyubiquitination and subsequent degradation of MYC. Also participates in the activation of NFKB1 in response to ligation of TNFRSF1A, possibly by linking TNFRSF1A to the IKK signalosome. Involved in JNK activation via its interaction with TRAF2. Also involved in elevation of endoplasmic reticulum Ca(2+) storage reduction in response to CHRM1. Protein modification; protein ubiquitination. Constitutively associated with TNFRSF1A. Directly interacts with TRADD, TRAF2, CHUK, IKBKB and IKBKG. Interacts with TRPC1, TRPC4 and TRPC5 (By similarity). Component of the DCX(TRUSS) E3 ubiquitin ligase complex, at least composed of CUL4A, DDB1, TRPC4AP/TRUSS and RBX1. Interacts with MYC. P62136:PPP1CA; NbExp=2; IntAct=EBI-2559060, EBI-357253; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8TEL6-1; Sequence=Displayed; Name=2; IsoId=Q8TEL6-2; Sequence=VSP_003982; Note=No experimental confirmation available; Sequence=BAB84932.1; Type=Frameshift; Positions=43; protein binding plasma membrane ubiquitin-dependent protein catabolic process protein ubiquitination phosphatase binding Cul4A-RING E3 ubiquitin ligase complex hair follicle maturation calcium ion transmembrane transport uc002xbk.1 uc002xbk.2 uc002xbk.3 uc002xbk.4 uc002xbk.5 
ENST00000252032.10 DNAAF9 ENST00000252032.10 Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA. (from RefSeq NM_001009984) C20orf194 CT194_HUMAN ENST00000252032.1 ENST00000252032.2 ENST00000252032.3 ENST00000252032.4 ENST00000252032.5 ENST00000252032.6 ENST00000252032.7 ENST00000252032.8 ENST00000252032.9 NM_001009984 Q5TEA3 Q66K86 Q6P2R9 Q9UFX9 uc002wii.1 uc002wii.2 uc002wii.3 uc002wii.4 uc002wii.5 This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. There are no human full-length transcripts representing this exon combination; it is predicted based on aligning partial transcripts and on full-length transcript support from mouse GeneID:228602. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.120879.1, SRR1803615.218497.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## May act as an effector for ARL3. Interacts with ARL3. protein binding cellular_component biological_process uc002wii.1 uc002wii.2 uc002wii.3 uc002wii.4 uc002wii.5 
ENST00000252037.5 FKBP6 ENST00000252037.5 Homo sapiens FKBP prolyl isomerase 6 (FKBP6), transcript variant 1, mRNA. (from RefSeq NM_003602) B4DXT7 ENST00000252037.1 ENST00000252037.2 ENST00000252037.3 ENST00000252037.4 FKBP36 FKBP6_HUMAN NM_003602 O75344 Q9UDS0 uc003tya.1 uc003tya.2 uc003tya.3 uc003tya.4 uc003tya.5 The protein encoded by this gene is a cis-trans peptidyl-prolyl isomerase that may function in immunoregulation and basic cellular processes involving protein folding and trafficking. This gene is located in a chromosomal region that is deleted in Williams-Beuren syndrome. Defects in this gene may cause male infertility. There are multiple pseudogenes for this gene located nearby on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. PPIases accelerate the folding of proteins. Peptidylproline (omega=180) = peptidylproline (omega=0). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75344-1; Sequence=Displayed; Name=2; IsoId=O75344-2; Sequence=VSP_042038; Note=No experimental confirmation available; Detected in all tissues examined, with higher expression in testis, heart, skeletal muscle, liver, and kidney. Note=FKBP6 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of FKBP6 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. Contains 1 PPIase FKBP-type domain. Contains 3 TPR repeats. protein peptidyl-prolyl isomerization synaptonemal complex protein binding FK506 binding nucleus chromosome cytoplasm cytosol protein folding spermatogenesis cell differentiation gene silencing by RNA piRNA metabolic process identical protein binding DNA methylation involved in gamete generation positive regulation of viral genome replication meiotic cell cycle Hsp90 protein binding peptidyl-prolyl cis-trans isomerase activity uc003tya.1 uc003tya.2 uc003tya.3 uc003tya.4 uc003tya.5 
ENST00000252050.9 CUL9 ENST00000252050.9 Homo sapiens cullin 9 (CUL9), mRNA. (from RefSeq NM_015089) CUL9_HUMAN ENST00000252050.1 ENST00000252050.2 ENST00000252050.3 ENST00000252050.4 ENST00000252050.5 ENST00000252050.6 ENST00000252050.7 ENST00000252050.8 H7AP1 KIAA0708 NM_015089 O75188 PARC Q5TCY3 Q68CP2 Q68D92 Q8IWT3 Q8N3W9 Q9BU56 uc003ouk.1 uc003ouk.2 uc003ouk.3 uc003ouk.4 uc003ouk.5 Cytoplasmic anchor protein in p53-associated protein complex. Regulates the subcellular localization of p53 and subsequent function. Seems to be part of an atypical cullin-RING- based E3 ubiquitin-protein ligase complex. In vitro, complexes of CUL9/PARC with either CUL7 or TP53 contain E3 ubiquitin-protein ligase activity. Forms a complex with p53/TP53 in the cytoplasm of unstressed cells. Interacts with UBCH7 and UBCH8. Interacts with CUL7 and RBX1. The CUL7-CUL9 heterodimer seems to interact specifically with TP53. P04637:TP53; NbExp=2; IntAct=EBI-311123, EBI-366083; Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8IWT3-1; Sequence=Displayed; Name=2; IsoId=Q8IWT3-3; Sequence=VSP_009573; Note=No experimental confirmation available; Ubiquitously expressed in all tissues with highest expression in testis brain and kidney. The IBR domain is required for interaction with UBCH7 and UBCH8. In vitro, self-ubiquitination in the presence of E1, E2 and ubiquitin. Neddylated. Belongs to the cullin family. Contains 1 DOC domain. Contains 1 IBR-type zinc finger. Contains 2 RING-type zinc fingers. Sequence=BAC85207.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=BAC86090.1; Type=Miscellaneous discrepancy; Note=Intron retention; nucleotide binding microtubule cytoskeleton organization protein binding ATP binding cytoplasm cytosol ubiquitin-dependent protein catabolic process regulation of mitotic nuclear division protein ubiquitination transferase activity cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding post-translational protein modification metal ion binding uc003ouk.1 uc003ouk.2 uc003ouk.3 uc003ouk.4 uc003ouk.5 
ENST00000252085.4 PCDHGA12 ENST00000252085.4 Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA. (from RefSeq NM_003735) CDH21 ENST00000252085.1 ENST00000252085.2 ENST00000252085.3 FIB3 KIAA0588 NM_003735 O15100 O60330 PCDGC_HUMAN Q6UW70 Q9Y5D7 UNQ371/PRO707 uc003lkt.1 uc003lkt.2 uc003lkt.3 uc003lkt.4 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]. 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). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O60330-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=O60330-2; Sequence=VSP_008682, VSP_008683; Name=3; IsoId=O60330-3; Sequence=VSP_020658; Note=No experimental confirmation available; Contains 6 cadherin domains. Sequence=BAA25514.2; Type=Erroneous initiation; calcium ion binding plasma membrane integral component of plasma membrane cell-cell junction cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules membrane integral component of membrane uc003lkt.1 uc003lkt.2 uc003lkt.3 uc003lkt.4 
ENST00000252087.3 PCDHGC5 ENST00000252087.3 Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA. (from RefSeq NM_018929) ENST00000252087.1 ENST00000252087.2 NM_018929 PCDGM_HUMAN Q9Y5C2 Q9Y5F6 uc003lla.1 uc003lla.2 uc003lla.3 uc003lla.4 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]. 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). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y5F6-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9Y5F6-2; Sequence=VSP_008702, VSP_008703; Contains 6 cadherin domains. calcium ion binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules membrane integral component of membrane synapse organization uc003lla.1 uc003lla.2 uc003lla.3 uc003lla.4 
ENST00000252100.6 TMCO6 ENST00000252100.6 Homo sapiens transmembrane and coiled-coil domains 6 (TMCO6), transcript variant 1, mRNA. (from RefSeq NM_001300980) ENST00000252100.1 ENST00000252100.2 ENST00000252100.3 ENST00000252100.4 ENST00000252100.5 NM_001300980 PRO1580 Q96DC7 Q9BUU0 Q9P198 TMCO6_HUMAN uc003lgm.1 uc003lgm.2 uc003lgm.3 uc003lgm.4 Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96DC7-1; Sequence=Displayed; Name=2; IsoId=Q96DC7-2; Sequence=VSP_028249; Note=No experimental confirmation available; Sequence=AAF69602.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA; Sequence=AAH01910.1; Type=Erroneous initiation; Sequence=AAH09618.1; Type=Erroneous initiation; Sequence=EAW62034.1; Type=Erroneous gene model prediction; protein binding cell protein import into nucleus membrane integral component of membrane nuclear import signal receptor activity uc003lgm.1 uc003lgm.2 uc003lgm.3 uc003lgm.4 
ENST00000252102.9 NDUFA2 ENST00000252102.9 Homo sapiens NADH:ubiquinone oxidoreductase subunit A2 (NDUFA2), transcript variant 3, non-coding RNA. (from RefSeq NR_033697) ENST00000252102.1 ENST00000252102.2 ENST00000252102.3 ENST00000252102.4 ENST00000252102.5 ENST00000252102.6 ENST00000252102.7 ENST00000252102.8 NDUA2_HUMAN NR_033697 O43678 Q6IAY8 uc003lgp.1 uc003lgp.2 uc003lgp.3 uc003lgp.4 uc003lgp.5 The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]. Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Complex I is composed of 45 different subunits. Mitochondrion inner membrane; Peripheral membrane protein; Matrix side. blastocyst hatching mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex I mitochondrial electron transport, NADH to ubiquinone NADH dehydrogenase (ubiquinone) activity membrane mitochondrial membrane mitochondrial respiratory chain complex I assembly oxidation-reduction process respiratory chain uc003lgp.1 uc003lgp.2 uc003lgp.3 uc003lgp.4 uc003lgp.5 
ENST00000252108.8 UBE4A ENST00000252108.8 Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA. (from RefSeq NM_001204077) B0YJB6 ENST00000252108.1 ENST00000252108.2 ENST00000252108.3 ENST00000252108.4 ENST00000252108.5 ENST00000252108.6 ENST00000252108.7 KIAA0126 NM_001204077 Q14139 Q2M1H0 Q6P5T4 Q7Z639 UBE4A_HUMAN uc001psw.1 uc001psw.2 uc001psw.3 uc001psw.4 uc001psw.5 This gene encodes a member of the U-box ubiquitin ligase family. The encoded protein is involved in multiubiquitin chain assembly and plays a critical role in chromosome condensation and separation through the polyubiquitination of securin. Autoantibodies against the encoded protein may be markers for scleroderma and Crohn's disease. A pseudogene of this gene is located on the long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]. Binds to the ubiquitin moieties of preformed conjugates and catalyzes ubiquitin chain assembly in conjunction with E1, E2, and E3 (By similarity). Q7Z434:MAVS; NbExp=2; IntAct=EBI-1048119, EBI-995373; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q14139-1; Sequence=Displayed; Name=2; IsoId=Q14139-2; Sequence=VSP_013673; Note=No experimental confirmation available; Belongs to the ubiquitin conjugation factor E4 family. Contains 1 U-box domain. Sequence=AAH52643.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH62695.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAA09475.2; Type=Erroneous initiation; ubiquitin ligase complex protein polyubiquitination ubiquitin-protein transferase activity protein binding nucleus cytoplasm ubiquitin-dependent protein catabolic process protein ubiquitination transferase activity ER-associated ubiquitin-dependent protein catabolic process ubiquitin-ubiquitin ligase activity uc001psw.1 uc001psw.2 uc001psw.3 uc001psw.4 uc001psw.5 
ENST00000252115.10 POLDIP3 ENST00000252115.10 Homo sapiens DNA polymerase delta interacting protein 3 (POLDIP3), transcript variant 4, non-coding RNA. (from RefSeq NR_103820) A8K6F8 A8K6V9 ENST00000252115.1 ENST00000252115.2 ENST00000252115.3 ENST00000252115.4 ENST00000252115.5 ENST00000252115.6 ENST00000252115.7 ENST00000252115.8 ENST00000252115.9 KIAA1649 NR_103820 PDIP3_HUMAN PDIP46 Q009A7 Q5H972 Q6PGN6 Q7Z6Z0 Q9BY77 Q9NSP5 Q9NSP6 uc003bcu.1 uc003bcu.2 uc003bcu.3 uc003bcu.4 uc003bcu.5 This gene encodes an RRM (RNA recognition motif)-containing protein that participates in the regulation of translation by recruiting ribosomal protein S6 kinase beta-1 to mRNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. Is involved in regulation of translation. Is preferentially associated with CBC-bound spliced mRNA-protein complexes during the pioneer round of mRNA translation. Contributes to enhanced translational efficiency of spliced over nonspliced mRNAs. Recruits activated ribosomal protein S6 kinase beta-1 I/RPS6KB1 to newly synthesized mRNA. Interacts with POLD2. Interacts with NCBP1 and EIF4A3. Associates with the multiprotein exon junction complex (EJC). Interacts with RPS6KB1 (activated). Interacts with ERH. Q09161:NCBP1; NbExp=3; IntAct=EBI-1776152, EBI-464743; Nucleus. Nucleus speckle. Cytoplasm. Note=Nucleocytoplasmic shuttling protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BY77-1; Sequence=Displayed; Name=2; IsoId=Q9BY77-2; Sequence=VSP_011056; Phosphorylated upon DNA damage, probably by ATM or ATR. Phosphorylated at Ser-383 and Ser-385 by RPS6KB1. Contains 1 RRM (RNA recognition motif) domain. Sequence=BAB33368.2; Type=Erroneous initiation; nucleic acid binding RNA binding protein binding nucleus nucleoplasm cytoplasm cytosol RNA export from nucleus mRNA export from nucleus regulation of translation nuclear speck poly(A)+ mRNA export from nucleus mRNA 3'-end processing cytoplasmic ribonucleoprotein granule macromolecular complex binding positive regulation of translation mRNA transport uc003bcu.1 uc003bcu.2 uc003bcu.3 uc003bcu.4 uc003bcu.5 
ENST00000252137.11 ESS2 ENST00000252137.11 Homo sapiens ess-2 splicing factor homolog (ESS2), transcript variant 1, mRNA. (from RefSeq NM_022719) DGC14_HUMAN DGCR13 DGCR14 DGSH DGSI ENST00000252137.1 ENST00000252137.10 ENST00000252137.2 ENST00000252137.3 ENST00000252137.4 ENST00000252137.5 ENST00000252137.6 ENST00000252137.7 ENST00000252137.8 ENST00000252137.9 ES2 NM_022719 Q49AH7 Q96DF8 Q9BTZ4 uc002zou.1 uc002zou.2 uc002zou.3 uc002zou.4 uc002zou.5 This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]. May be involved in pre-mRNA splicing. Identified in the spliceosome C complex. Nucleus (By similarity). Highly expressed in heart, brain and skeletal muscle. Detected at low levels in placenta. Belongs to the DGCR14 family. mRNA splicing, via spliceosome molecular_function protein binding nucleus spliceosomal complex mRNA processing nervous system development RNA splicing catalytic step 2 spliceosome uc002zou.1 uc002zou.2 uc002zou.3 uc002zou.4 uc002zou.5 
ENST00000252211.7 ZKSCAN3 ENST00000252211.7 Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 2, mRNA. (from RefSeq NM_024493) B2R8W2 ENST00000252211.1 ENST00000252211.2 ENST00000252211.3 ENST00000252211.4 ENST00000252211.5 ENST00000252211.6 NM_024493 Q5VXH3 Q92972 Q9BRR0 Q9H4T3 ZFP47 ZKSC3_HUMAN ZNF306 ZNF309 ZSCAN13 uc003nle.1 uc003nle.2 uc003nle.3 uc003nle.4 uc003nle.5 Acts as a transcriptional regulator. Binds to the consensus sequence 5'-[GT][AG][AGT]GGGG-3'. Associates with chromatin at the ITGB4 and VEGF promoters. Activates the transcription of genes associated with colon cancer progression. Nucleus. Expressed in colorectal cancers (at protein level). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 7 C2H2-type zinc fingers. Contains 1 KRAB domain. 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 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm cytoplasm cytosol regulation of transcription, DNA-templated autophagy lysosome organization negative regulation of autophagy sequence-specific DNA binding negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated metal ion binding negative regulation of cellular senescence uc003nle.1 uc003nle.2 uc003nle.3 uc003nle.4 uc003nle.5 
ENST00000252229.7 MICB ENST00000252229.7 Homo sapiens MHC class I polypeptide-related sequence B (MICB), transcript variant 1, mRNA. (from RefSeq NM_005931) A6NP85 B0UZ10 ENST00000252229.1 ENST00000252229.2 ENST00000252229.3 ENST00000252229.4 ENST00000252229.5 ENST00000252229.6 MICB_HUMAN NM_005931 O14499 O14500 O19798 O19799 O19800 O19801 O19802 O19803 O78099 O78100 O78101 O78102 O78103 O78104 P79525 P79541 PERB11.2 Q29980 Q5GR31 Q5GR37 Q5GR41 Q5GR42 Q5GR43 Q5GR44 Q5GR46 Q5GR48 Q5RIY6 Q5SSK1 Q5ST25 Q7JK51 Q7YQ89 Q9MY18 Q9MY19 Q9MY20 Q9UBH4 Q9UBZ8 Q9UEJ0 uc003ntn.1 uc003ntn.2 uc003ntn.3 uc003ntn.4 uc003ntn.5 uc003ntn.6 uc003ntn.7 This gene encodes a heavily glycosylated protein which is a ligand for the NKG2D type II receptor. Binding of the ligand activates the cytolytic response of natural killer (NK) cells, CD8 alphabeta T cells, and gammadelta T cells which express the receptor. This protein is stress-induced and is similar to MHC class I molecules; however, it does not associate with beta-2-microglobulin or bind peptides. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. Seems to have no role in antigen presentation. Acts as a stress-induced self-antigen that is recognized by gamma delta T cells. Ligand for the KLRK1/NKG2D receptor. Binding to KLRK1 leads to cell lysis. Unlike classical MHC class I molecules, does not form a heterodimer with beta-2-microglobulin. Binds as a monomer to a KLRK1/NKG2D homodimer. KLRK1 forms a complex with HCST/DAP10 in which KLRK1 binds MICB while HCST acts as an adapter molecule which enables signal transduction. Receptor-ligand interaction induces clustering of both proteins in ordered structures called immune synapses and also leads to their intercellular transfer. This is associated with a reduction in the cytotoxicity of KLRK1- expressing cells. Binds to human cytomegalovirus glycoprotein UL16 which causes sequestration of MICB in the endoplasmic reticulum and increases resistance to KLRK1-mediated cytotoxicity. Cell membrane; Single-pass type I membrane protein (By similarity). Note=Binding to human cytomegalovirus glycoprotein UL16 causes sequestration in the endoplasmic reticulum. Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=MICB1; IsoId=Q29980-1; Sequence=Displayed; Name=2; Synonyms=MICB2; IsoId=Q29980-2; Sequence=Not described; Name=3; IsoId=Q29980-3; Sequence=VSP_052801, VSP_052802; Note=A GC to AG nucleotide substitution in intron 1 generates a splice junction which gives rise to an additional exon between exons 1 and 2. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Widely expressed with the exception of the central nervous system where it is absent. Expressed in many, but not all, epithelial tumors of lung, breast, kidney, ovary, prostate and colon. In hepatocellular carcinomas, expressed in tumor cells but not in surrounding non-cancerous tissue. By heat shock, oxidative stress, retinoic acid, IFN- alpha and the DNA methyltransferase inhibitor 5-aza-2'- deoxycytidine. Induction by IFN-alpha is impaired in patients with chronic hepatitis C virus infection. Down-regulated by human cytomegalovirus UL112 microRNA during viral infection which leads to decreased binding of KLRK1/NKG2D and reduced killing by natural killer cells. Proteolytically cleaved and released from the cell surface of tumor cells. The following alleles of MICB are known: MICB*001, MICB*002, MICB*003, MICB*004, MICB*005, MICB*006, MICB*007, MICB*008, MICB*009N, MICB*010, MICB*011, MICB*012, MICB*013, MICB*014, MICB*015, MICB*016, MICB*018, MICB*019, MICB*020, MICB*021N and MICB*022. MICB*009N and MICB*021N are null alleles which are not expressed. The sequence shown is that of MICB*001. Genetic variations in MICA 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. Note=The MICB*004 allele is associated with rheumatoid arthritis. Note=Genetic variation in MICB is associated with cytomegalovirus and herpes simplex virus I seropositivity and this may be associated with schizophrenia risk. Belongs to the MHC class I family. MIC subfamily. Contains 1 Ig-like C1-type (immunoglobulin-like) domain. positive regulation of T cell mediated cytotoxicity adaptive immune response immune system process immune response-activating cell surface receptor signaling pathway antigen processing and presentation of endogenous peptide antigen via MHC class Ib antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent extracellular space plasma membrane immune response response to oxidative stress response to heat external side of plasma membrane cell surface membrane integral component of membrane viral process cytolysis response to retinoic acid gamma-delta T cell activation natural killer cell lectin-like receptor binding negative regulation of defense response to virus by host regulation of immune response uc003ntn.1 uc003ntn.2 uc003ntn.3 uc003ntn.4 uc003ntn.5 uc003ntn.6 uc003ntn.7 
ENST00000252242.9 KRT5 ENST00000252242.9 Homo sapiens keratin 5 (KRT5), mRNA. (from RefSeq NM_000424) ENST00000252242.1 ENST00000252242.2 ENST00000252242.3 ENST00000252242.4 ENST00000252242.5 ENST00000252242.6 ENST00000252242.7 ENST00000252242.8 K2C5_HUMAN NM_000424 P13647 Q6PI71 Q6UBJ0 Q8TA91 uc001san.1 uc001san.2 uc001san.3 uc001san.4 uc001san.5 The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC024292.1, M21389.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145893, SAMEA2147596 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252242.9/ ENSP00000252242.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Heterotetramer of two type I and two type II keratins. Keratin-5 associates with keratin-14. Interacts with TCHP. P18054:ALOX12; NbExp=7; IntAct=EBI-702187, EBI-1633210; Defects in KRT5 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 KRT5 are the cause of epidermolysis bullosa simplex with migratory circinate erythema (EBSMCE) [MIM:609352]. EBSMCE is a form of intraepidermal epidermolysis bullosa characterized by unusual migratory circinate erythema. Skin lesions appear from birth primarily on the hands, feet, and legs but spare nails, ocular epithelia and mucosae. Lesions heal with brown pigmentation but no scarring. Electron microscopy findings are distinct from those seen in the DM-EBS, with no evidence of tonofilament clumping. Defects in KRT5 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 KRT5 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 KRT5 are the cause of epidermolysis bullosa simplex with mottled pigmentation (MP-EBS) [MIM:131960]. MP-EBS is a form of intraepidermal epidermolysis bullosa characterized by blistering at acral sites and 'mottled' pigmentation of the trunk and proximal extremities with hyper- and hypopigmentation macules. Defects in KRT5 are the cause of Dowling-Degos disease (DDD) [MIM:179850]; also known as Dowling-Degos-Kitamura disease or reticulate acropigmentation of Kitamura. DDD is an autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. 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/KRT5"; structural constituent of cytoskeleton protein binding nucleus cytoplasm cytosol intermediate filament cytoskeleton organization epidermis development membrane keratinization hemidesmosome assembly keratin filament extracellular exosome cornification scaffold protein binding uc001san.1 uc001san.2 uc001san.3 uc001san.4 uc001san.5 
ENST00000252244.3 KRT1 ENST00000252244.3 Homo sapiens keratin 1 (KRT1), mRNA. (from RefSeq NM_006121) B2RA01 ENST00000252244.1 ENST00000252244.2 K2C1_HUMAN KRTA NM_006121 P04264 Q14720 Q6GSJ0 Q9H298 uc001sau.1 The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC063697.1, ERR279845.9858.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145893, SAMEA2147596 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252244.3/ ENSP00000252244.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the receptor of activated protein kinase C (RACK1/GNB2L1). Heterotetramer of two type I and two type II keratins. Keratin-1 is generally associated with keratin-10. Interacts with ITGB1 in the presence of GNB2L1 and SRC, and with GNB2L1. Cell membrane. Note=Located on plasma membrane of neuroblastoma NMB7 cells. The source of this protein is neonatal foreskin. The 67-kDa type II keratins are expressed in terminally differentiating epidermis. Undergoes deimination of some arginine residues (citrullination). There are two size variants of KRT1, termed allele 1A and allele 1B with allelic frequencies of 0.61 and 0.39. Allele 1B lacks 7 residues compared to allele 1A. Defects in KRT1 are a cause of epidermolytic hyperkeratosis (EHK) [MIM:113800]. An autosomal dominant skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop. Defects in KRT1 are the cause of ichthyosis hystrix Curth-Macklin type (IHCM) [MIM:146590]. IHCM is a genodermatosis with severe verrucous hyperkeratosis. Affected individuals manifest congenital verrucous black scale on the scalp, neck, and limbs with truncal erythema, palmoplantar keratoderma and keratoses on the lips, ears, nipples and buttocks. Defects in KRT1 are a cause of palmoplantar keratoderma non-epidermolytic (NEPPK) [MIM:600962]. NEPKK is a dermatological disorder characterized by focal palmoplantar keratoderma with oral, genital, and follicular lesions. Defects in KRT1 are a cause of ichthyosis annular epidermolytic (AEI) [MIM:607602]; also known as cyclic ichthyosis with epidermolytic hyperkeratosis. AEI is a skin disorder resembling bullous congenital ichthyosiform erythroderma. Affected individuals present with bullous ichthyosis in early childhood and hyperkeratotic lichenified plaques in the flexural areas and extensor surfaces at later ages. The feature that distinguishes AEI from BCIE is dramatic episodes of flares of annular polycyclic plaques with scale, which coalesce to involve most of the body surface and can persist for several weeks or even months. Defects in KRT1 are the cause of palmoplantar keratoderma striate type 3 (SPPK3) [MIM:607654]; also known as keratosis palmoplantaris striata III. SPPK3 is a dermatological disorder affecting palm and sole skin where stratum corneum and epidermal layers are thickened. There is no involvement of non-palmoplantar skin, and both hair and nails are normal. 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/KRT1"; Name=Wikipedia; Note=Keratin-1 entry; URL="http://en.wikipedia.org/wiki/Keratin_1"; cornified envelope complement activation, lectin pathway retina homeostasis protein binding extracellular region extracellular space nucleus cytosol cytoskeleton intermediate filament plasma membrane response to oxidative stress membrane peptide cross-linking carbohydrate binding structural constituent of epidermis keratinization signaling receptor activity fibrinolysis neutrophil degranulation keratin filament regulation of angiogenesis protein heterodimerization activity negative regulation of inflammatory response protein heterotetramerization establishment of skin barrier extracellular exosome cornification blood microparticle ficolin-1-rich granule lumen uc001sau.1 
ENST00000252245.6 KRT75 ENST00000252245.6 Homo sapiens keratin 75 (KRT75), mRNA. (from RefSeq NM_004693) B4DQU4 ENST00000252245.1 ENST00000252245.2 ENST00000252245.3 ENST00000252245.4 ENST00000252245.5 K2C75_HUMAN K6HF KB18 NM_004693 O95678 Q9NSA9 uc001saj.1 uc001saj.2 uc001saj.3 uc001saj.4 This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. This gene is expressed in the companion layer, upper germinative matrix region of the hair follicle, and medulla of the hair shaft. The encoded protein plays an essential role in hair and nail formation. Variations in this gene have been associated with the hair disorders pseudofolliculitis barbae (PFB) and loose anagen hair syndrome (LAHS). [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 :: Y17282.1, AK298960.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA2144335, SAMEA2145743 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252245.6/ ENSP00000252245.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays a central role in hair and nail formation. Essential component of keratin intermediate filaments in the companion layer of the hair follicle. Heterodimer of a type I and a type II keratin (By similarity). May associate with KRT17 (By similarity). Highly expressed in hair follicles from scalp. Specifically expressed in the of the hair companion layer follicle, a single layered band of flat and vertically oriented cells between the cuboidal outer root sheath (ORS) cells and the inner root sheath (IRS) that stretches from the lowermost bulb region to the isthmus of the follicle. Also expressed in medullated hairs. In nails, it is almost exclusively present in the nail bed (at protein level). The Thr-161 variant may increase risk to develop pseudofolliculitis barbae (PFB) [MIM:612318]. PFB is a common hair disorder characterized by a pustular foreign body inflammatory reaction that is induced by ingrown hairs of the facial and submental (barbea) regions after regular shaving. It occurs predominantly in black males, while it is rather rare and usually far less severe in Caucasian males. Defects in KRT75 may be a cause of loose anagen hair syndrome (LAHS) [MIM:600628]. In LAHS, anagen hairs are easily pulled from the scalp. The hair is relatively sparse and does not grow long. Hair of fair color and hair shafts of reduced caliber, and an early age of onset are features. Usually the hairs are not fragile and there are no areas of breakage. May be used as a marker of hair differentiation. There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40- 55 and 56-70 kDa, respectively). Belongs to the intermediate filament family. Sequence=BAG61056.1; Type=Erroneous initiation; hematopoietic progenitor cell differentiation structural molecule activity cytosol intermediate filament keratinization keratin filament extracellular exosome cornification uc001saj.1 uc001saj.2 uc001saj.3 uc001saj.4 
ENST00000252250.7 KRT6C ENST00000252250.7 Homo sapiens keratin 6C (KRT6C), mRNA. (from RefSeq NM_173086) A1L4L5 ENST00000252250.1 ENST00000252250.2 ENST00000252250.3 ENST00000252250.4 ENST00000252250.5 ENST00000252250.6 K2C6C_HUMAN KRT6E NM_173086 P48666 P48668 Q2TAZ9 Q7RTN9 uc001sal.1 uc001sal.2 uc001sal.3 uc001sal.4 uc001sal.5 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, 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 :: BC110639.1, L42611.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2156670 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252250.7/ ENSP00000252250.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Heterodimer of a type I and a type II keratin. KRT6 isomers associate with KRT16 and/or KRT17. Constitutively expressed in distinct types of epithelia such as those in oral mucosa, esophagus, papillae of tongue and hair follicle outer root sheath. There are at least six isoforms of human type II keratin-6 (K6). There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40- 55 and 56-70 kDa, respectively). Belongs to the intermediate filament family. protein binding cytosol intermediate filament keratinization keratin filament intermediate filament cytoskeleton organization extracellular exosome cornification uc001sal.1 uc001sal.2 uc001sal.3 uc001sal.4 uc001sal.5 
ENST00000252252.4 KRT6B ENST00000252252.4 Homo sapiens keratin 6B (KRT6B), mRNA. (from RefSeq NM_005555) ENST00000252252.1 ENST00000252252.2 ENST00000252252.3 K2C6B_HUMAN K6B KRTL1 NM_005555 P04259 P48669 uc001sak.1 uc001sak.2 uc001sak.3 uc001sak.4 The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. Mutations in these genes have been associated with pachyonychia congenita. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC034535.1, ERR279831.6271.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2147975 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252252.4/ ENSP00000252252.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Heterodimer of a type I and a type II keratin. KRT6 isomers associate with KRT16 and/or KRT17. Constitutively expressed in distinct types of epithelia such as those in oral mucosa, esophagus, papillae of tongue and hair follicle outer root sheath. Defects in KRT6B are a cause of pachyonychia congenita type 2 (PC2) [MIM:167210]; also known as pachyonychia congenita Jackson-Lawler type. PC2 is an autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma and hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts, absent/sparse eyebrow and body hair, and by the presence of natal teeth. There are at least six isoforms of human type II keratin-6 (K6). There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40- 55 and 56-70 kDa, respectively). Belongs to the intermediate filament family. Name=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT6B"; structural constituent of cytoskeleton protein binding cytosol intermediate filament cytoskeleton organization ectoderm development keratinization keratin filament extracellular exosome cornification uc001sak.1 uc001sak.2 uc001sak.3 uc001sak.4 
ENST00000252288.8 GAMT ENST00000252288.8 Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 1, mRNA. (from RefSeq NM_000156) ENST00000252288.1 ENST00000252288.2 ENST00000252288.3 ENST00000252288.4 ENST00000252288.5 ENST00000252288.6 ENST00000252288.7 NM_000156 V9HWB2 uc002lsj.1 uc002lsj.2 uc002lsj.3 uc002lsj.4 uc002lsj.5 uc002lsj.6 uc002lsj.7 The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]. uc002lsj.1 uc002lsj.2 uc002lsj.3 uc002lsj.4 uc002lsj.5 uc002lsj.6 uc002lsj.7 
ENST00000252318.7 GALNT8 ENST00000252318.7 Homo sapiens polypeptide N-acetylgalactosaminyltransferase 8 (GALNT8), mRNA. (from RefSeq NM_017417) B2RU02 ENST00000252318.1 ENST00000252318.2 ENST00000252318.3 ENST00000252318.4 ENST00000252318.5 ENST00000252318.6 GALT8_HUMAN NM_017417 Q9NY28 uc001qne.1 uc001qne.2 uc001qne.3 This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AJ271385.1, BC140888.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252318.7/ ENSP00000252318.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Probably catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor (By similarity). UDP-N-acetyl-D-galactosamine + polypeptide = UDP + N-acetyl-D-galactosaminyl-polypeptide. Manganese (By similarity). Calcium (By similarity). Protein modification; protein glycosylation. Golgi apparatus membrane; Single-pass type II membrane protein (By similarity). Widely expressed. Expressed in heart, skeletal muscle, kidney, liver, small intestine and placenta. Weakly expressed in colon, thymus, spleen, lung and leukocyte. There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding (By similarity). The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity (By similarity). Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Contains 1 ricin B-type lectin domain. Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; Name=Functional Glycomics Gateway - GTase; Note=Probable polypeptide N-acetylgalactosaminyltransferase 8; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_490"; Golgi membrane polypeptide N-acetylgalactosaminyltransferase activity Golgi apparatus protein glycosylation membrane integral component of membrane O-glycan processing transferase activity transferase activity, transferring glycosyl groups carbohydrate binding intracellular membrane-bounded organelle metal ion binding uc001qne.1 uc001qne.2 uc001qne.3 
ENST00000252321.5 KCNA5 ENST00000252321.5 Homo sapiens potassium voltage-gated channel subfamily A member 5 (KCNA5), mRNA. (from RefSeq NM_002234) ENST00000252321.1 ENST00000252321.2 ENST00000252321.3 ENST00000252321.4 KCNA5_HUMAN NM_002234 P22460 Q4KKT8 Q4VAJ1 Q4VAJ2 Q9UDA4 uc001qni.1 uc001qni.2 uc001qni.3 uc001qni.4 uc001qni.5 uc001qni.6 Potassium channels represent the most complex class of voltage-gated ino channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, the function of which could restore the resting membrane potential of beta cells after depolarization and thereby contribute to the regulation of insulin secretion. This gene is intronless, and the gene is clustered with genes KCNA1 and KCNA6 on chromosome 12. Defects in this gene are a cause of familial atrial fibrillation type 7 (ATFB7). [provided by RefSeq, May 2012]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: SRR1803613.198188.1, SRR1660807.110520.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252321.5/ ENSP00000252321.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient. This channel displays rapid activation and slow inactivation. May play a role in regulating the secretion of insulin in normal pancreatic islets. Isoform 2 exhibits a voltage-dependent recovery from inactivation and an excessive cumulative inactivation. Heterotetramer of potassium channel proteins. Interacts with DLG1, which enhances channel currents. Forms a ternary complex with DLG1 and CAV3 (By similarity). Interacts with UBE2I. Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P22460-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P22460-2; Sequence=VSP_037110; Pancreatic islets and insulinoma. The amino terminus may be important in determining the rate of inactivation of the channel while the C-terminal PDZ- binding motif may play a role in modulation of channel activity and/or targeting of the channel to specific subcellular compartments. The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Sumoylated on Lys-221, and Lys-536, preferentially with SUMO3. Sumoylation regulates the voltage sensitivity of the channel. Defects in KCNA5 are the cause of familial atrial fibrillation type 7 (ATFB7) [MIM:612240]. 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, progressive deterioration of atrial electromechanical function and ineffective pumping of blood into the ventricles. It can be associated with palpitations, syncope, thromboembolic stroke, and congestive heart failure. Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.5/KCNA5 sub-subfamily. Sequence=AAA60146.1; Type=Frameshift; Positions=579; response to hypoxia receptor binding ion channel activity voltage-gated ion channel activity voltage-gated potassium channel activity delayed rectifier potassium channel activity potassium channel activity protein binding endoplasmic reticulum Golgi apparatus plasma membrane integral component of plasma membrane ion transport potassium ion transport Notch signaling pathway voltage-gated potassium channel complex response to mechanical stimulus cell surface response to organic substance intercalated disc outward rectifier potassium channel activity membrane integral component of membrane regulation of vasoconstriction protein kinase binding Z disc potassium channel complex regulation of ion transmembrane transport regulation of membrane potential response to hydrogen peroxide regulation of potassium ion transport membrane raft intracellular canaliculus perinuclear region of cytoplasm regulation of insulin secretion protein oligomerization protein homooligomerization alpha-actinin binding negative regulation of cytosolic calcium ion concentration potassium ion homeostasis transmembrane transport response to hyperoxia membrane hyperpolarization regulation of atrial cardiac muscle cell membrane repolarization potassium ion transmembrane transport atrial cardiac muscle cell action potential membrane repolarization during bundle of His cell action potential membrane repolarization during SA node cell action potential voltage-gated potassium channel activity involved in bundle of His cell action potential repolarization voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization voltage-gated potassium channel activity involved in SA node 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 positive regulation of G1/S transition of mitotic cell cycle positive regulation of myoblast proliferation caveola uc001qni.1 uc001qni.2 uc001qni.3 uc001qni.4 uc001qni.5 uc001qni.6 
ENST00000252329.3 PSMG3 ENST00000252329.3 Chaperone protein which promotes assembly of the 20S proteasome. May cooperate with PSMG1-PSMG2 heterodimers to orchestrate the correct assembly of proteasomes. (from UniProt Q9BT73) A4D216 A8MPW2 BC071939 C7orf48 ENST00000252329.1 ENST00000252329.2 PAC3 PSMG3_HUMAN Q9BT73 uc064axx.1 Chaperone protein which promotes assembly of the 20S proteasome. May cooperate with PSMG1-PSMG2 heterodimers to orchestrate the correct assembly of proteasomes. Homodimer. Interacts with PSMG4. Interacts directly with alpha and beta subunits of the 20S proteasome but dissociates before the formation of half-proteasomes, probably upon recruitment of POMP. Belongs to the PSMG3 family. uc064axx.1 
ENST00000252338.5 NALF2 ENST00000252338.5 Homo sapiens family with sequence similarity 155 member B (FAM155B), mRNA. (from RefSeq NM_015686) B1ALV6 B9EGK1 D3DVU1 ENST00000252338.1 ENST00000252338.2 ENST00000252338.3 ENST00000252338.4 F155B_HUMAN FAM155B NM_015686 O75949 TED TMEM28 uc004dxk.1 uc004dxk.2 uc004dxk.3 uc004dxk.4 uc004dxk.5 This gene encodes a product belonging to a family of proteins with unknown function. The presence of two transmembrane domains suggests that this protein is a multi-pass membrane protein. [provided by RefSeq, Sep 2011]. ##Evidence-Data-START## Transcript exon combination :: AF087142.1, BC136518.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252338.5/ ENSP00000252338.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75949-1; Sequence=Displayed; Name=2; IsoId=O75949-2; Sequence=VSP_034157; Note=No experimental confirmation available; Belongs to the FAM155 family. plasma membrane membrane integral component of membrane calcium ion import across plasma membrane stretch-activated, cation-selective, calcium channel activity uc004dxk.1 uc004dxk.2 uc004dxk.3 uc004dxk.4 uc004dxk.5 
ENST00000252445.8 ELOF1 ENST00000252445.8 Homo sapiens elongation factor 1 homolog (ELOF1), transcript variant 1, mRNA. (from RefSeq NM_032377) ELOF1_HUMAN ENST00000252445.1 ENST00000252445.2 ENST00000252445.3 ENST00000252445.4 ENST00000252445.5 ENST00000252445.6 ENST00000252445.7 NM_032377 P60002 Q8R1J7 Q96II4 uc002mse.1 uc002mse.2 Transcription elongation factor implicated in the maintenance of proper chromatin structure in actively transcribed regions (By similarity). Nucleus (By similarity). Belongs to the ELOF1 family. RNA polymerase II core binding protein binding nucleus transcription elongation from RNA polymerase II promoter transcription elongation factor complex metal ion binding chromatin-mediated maintenance of transcription uc002mse.1 uc002mse.2 
ENST00000252456.7 CNN1 ENST00000252456.7 Homo sapiens calponin 1 (CNN1), transcript variant 1, mRNA. (from RefSeq NM_001299) ENST00000252456.1 ENST00000252456.2 ENST00000252456.3 ENST00000252456.4 ENST00000252456.5 ENST00000252456.6 NM_001299 V9HWA5 uc002msc.1 uc002msc.2 uc002msc.3 uc002msc.1 uc002msc.2 uc002msc.3 
ENST00000252485.8 NECTIN2 ENST00000252485.8 Homo sapiens nectin cell adhesion molecule 2 (NECTIN2), transcript variant alpha, mRNA. (from RefSeq NM_002856) ENST00000252485.1 ENST00000252485.2 ENST00000252485.3 ENST00000252485.4 ENST00000252485.5 ENST00000252485.6 ENST00000252485.7 HVEB NM_002856 O75455 PRR2 PVRL2 PVRL2_HUMAN Q6IBI6 Q92692 Q96J29 uc002ozv.1 uc002ozv.2 uc002ozv.3 uc002ozv.4 This gene encodes a single-pass type I membrane glycoprotein with two Ig-like C2-type domains and an Ig-like V-type domain. This protein is one of the plasma membrane components of adherens junctions. It also serves as an entry for certain mutant strains of herpes simplex virus and pseudorabies virus, and it is involved in cell to cell spreading of these viruses. Variations in this gene have been associated with differences in the severity of multiple sclerosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. Probable cell adhesion protein. Can form trans-heterodimers with PVRL3/nectin-3 (By similarity). Interacts with CD226. Binds with low affinity to TIGIT. Interacts with herpes simplex virus 1 (HHV-1) mutant Rid1, herpes simplex virus 1 (HHV-2) and pseudorabies virus (PRV) envelope glycoprotein D; functions as an entry receptor for these viruses. Q15762:CD226; NbExp=2; IntAct=EBI-718419, EBI-4314442; Q9NQS3:PVRL3; NbExp=2; IntAct=EBI-718419, EBI-2826725; Cell membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=2; Name=Delta; IsoId=Q92692-1; Sequence=Displayed; Name=Alpha; IsoId=Q92692-2; Sequence=VSP_002628, VSP_002629; Ubiquitous. Belongs to the nectin family. Contains 2 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 Ig-like V-type (immunoglobulin-like) domain. virus receptor activity acrosome assembly positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target positive regulation of immunoglobulin mediated immune response protein binding plasma membrane cell-cell junction zonula adherens focal adhesion cytoskeleton organization cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules spermatid development spermatid nucleus differentiation fertilization cell surface coreceptor activity membrane integral component of membrane viral process virion attachment to host cell fusion of virus membrane with host plasma membrane sperm mitochondrion organization cell part morphogenesis positive regulation of mast cell activation adherens junction organization susceptibility to natural killer cell mediated cytotoxicity identical protein binding protein homodimerization activity apical junction complex cell-cell contact zone adhesion of symbiont to host cilium organization positive regulation of natural killer cell mediated cytotoxicity regulation of viral entry into host cell coreceptor-mediated virion attachment to host cell regulation of immune response cell adhesion molecule binding positive regulation of T cell receptor signaling pathway establishment of mitochondrion localization susceptibility to T cell mediated cytotoxicity extracellular exosome uc002ozv.1 uc002ozv.2 uc002ozv.3 uc002ozv.4 
ENST00000252486.9 APOE ENST00000252486.9 Homo sapiens apolipoprotein E (APOE), transcript variant 5, mRNA. (from RefSeq NM_001302691) APOE_HUMAN B2RC15 C0JYY5 ENST00000252486.1 ENST00000252486.2 ENST00000252486.3 ENST00000252486.4 ENST00000252486.5 ENST00000252486.6 ENST00000252486.7 ENST00000252486.8 NM_001302691 P02649 Q9P2S4 uc002pab.1 uc002pab.2 uc002pab.3 uc002pab.4 uc002pab.5 The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jun 2016]. Mediates the binding, internalization, and catabolism of lipoprotein particles. It can serve as a ligand for the LDL (apo B/E) receptor and for the specific apo-E receptor (chylomicron remnant) of hepatic tissues. Q16543:CDC37; NbExp=3; IntAct=EBI-1222467, EBI-295634; Q9BQ95:ECSIT; NbExp=4; IntAct=EBI-1222467, EBI-712452; Q53EL6:PDCD4; NbExp=3; IntAct=EBI-1222467, EBI-935824; P50502:ST13; NbExp=3; IntAct=EBI-1222467, EBI-357285; O75069:TMCC2; NbExp=5; IntAct=EBI-1222467, EBI-726731; Secreted. Occurs in all lipoprotein fractions in plasma. It constitutes 10-20% of very low density lipoproteins (VLDL) and 1-2% of high density lipoproteins (HDL). APOE is produced in most organs. Significant quantities are produced in liver, brain, spleen, lung, adrenal, ovary, kidney and muscle. Synthesized with the sialic acid attached by O-glycosidic linkage and is subsequently desialylated in plasma. O-glycosylated with core 1 or possibly core 8 glycans. Thr-307 is a minor glycosylation site compared to Ser-308. Glycated in plasma VLDL of normal subjects, and of hyperglycemic diabetic patients at a higher level (2-3 fold). Phosphorylation sites are present in the extracellular medium. Three common APOE alleles have been identified: APOE*2, APOE*3, and APOE*4. The corresponding three major isoforms, E2, E3, and E4, are recognized according to their relative position after isoelectric focusing. Different mutations causing the same migration pattern after isoelectric focusing define different isoform subtypes. The most common isoform is E3 and is present in 40-90% of the population. Common APOE variants influence lipoprotein metabolism in healthy individuals. Defects in APOE are a cause of hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]; also known as familial dysbetalipoproteinemia. Individuals with HLPP3 are clinically characterized by xanthomas, yellowish lipid deposits in the palmar crease, or less specific on tendons and on elbows. The disorder rarely manifests before the third decade in men. In women, it is usually expressed only after the menopause. The vast majority of the patients are homozygous for APOE*2 alleles. More severe cases of HLPP3 have also been observed in individuals heterozygous for rare APOE variants. The influence of APOE on lipid levels is often suggested to have major implications for the risk of coronary artery disease (CAD). Individuals carrying the common APOE*4 variant are at higher risk of CAD. Genetic variations in APOE are associated with Alzheimer disease type 2 (AD2) [MIM:104310]. It is a late-onset neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. Note=The APOE*4 allele is genetically associated with the common late onset familial and sporadic forms of Alzheimer disease. Risk for AD increased from 20% to 90% and mean age at onset decreased from 84 to 68 years with increasing number of APOE*4 alleles in 42 families with late onset AD. Thus APOE*4 gene dose is a major risk factor for late onset AD and, in these families, homozygosity for APOE*4 was virtually sufficient to cause AD by age 80. The mechanism by which APOE*4 participates in pathogenesis is not known. Defects in APOE are a cause of sea-blue histiocyte disease (SBHD) [MIM:269600]; also known as sea-blue histiocytosis. This disorder is characterized by splenomegaly, mild thrombocytopenia and, in the bone marrow, numerous histiocytes containing cytoplasmic granules which stain bright blue with the usual hematologic stains. The syndrome is the consequence of an inherited metabolic defect analogous to Gaucher disease and other sphingolipidoses. Defects in APOE are a cause of lipoprotein glomerulopathy (LPG) [MIM:611771]. LPG is an uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries. It mainly affects people of Japanese and Chinese origin. The disorder has rarely been described in Caucasians. Belongs to the apolipoprotein A1/A4/E family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APOE"; Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APOE"; Name=Wikipedia; Note=Apolipoprotein E entry; URL="http://en.wikipedia.org/wiki/Apolipoprotein_E"; Name=Protein Spotlight; Note=Tangled - Issue 83 of June 2007; URL="http://web.expasy.org/spotlight/back_issues/sptlt083.shtml"; response to reactive oxygen species retinoid metabolic process beta-amyloid binding negative regulation of endothelial cell proliferation response to dietary excess receptor binding structural molecule activity lipid transporter activity protein binding phospholipid binding extracellular region extracellular space nucleus cytoplasm early endosome endoplasmic reticulum endoplasmic reticulum lumen Golgi apparatus plasma membrane regulation of transcription from RNA polymerase II promoter lipid metabolic process triglyceride metabolic process cholesterol catabolic process lipid transport cellular calcium ion homeostasis receptor-mediated endocytosis response to oxidative stress cytoskeleton organization G-protein coupled receptor signaling pathway nitric oxide mediated signal transduction synaptic transmission, cholinergic long-term memory heparin binding steroid metabolic process cholesterol metabolic process lipid binding regulation of gene expression negative regulation of platelet activation negative regulation of endothelial cell migration negative regulation of gene expression positive regulation of cholesterol esterification positive regulation of cholesterol efflux lipid transport involved in lipid storage positive regulation of neuron projection development negative regulation of neuron projection development long-chain fatty acid transport membrane antioxidant activity protein import virion assembly cGMP-mediated signaling negative regulation of blood coagulation dendrite regulation of axon extension clathrin-coated endocytic vesicle membrane extracellular matrix neuron projection development negative regulation of cellular protein metabolic process regulation of Cdc42 protein signal transduction positive regulation of low-density lipoprotein particle receptor catabolic process cholesterol efflux phospholipid efflux very-low-density lipoprotein particle low-density lipoprotein particle intermediate-density lipoprotein particle high-density lipoprotein particle discoidal high-density lipoprotein particle chylomicron remodeling very-low-density lipoprotein particle remodeling low-density lipoprotein particle remodeling high-density lipoprotein particle remodeling chylomicron assembly high-density lipoprotein particle assembly chylomicron remnant clearance high-density lipoprotein particle clearance very-low-density lipoprotein particle clearance locomotory exploration behavior lipoprotein metabolic process lipoprotein biosynthetic process lipoprotein catabolic process vasodilation chylomicron cholesterol homeostasis identical protein binding protein homodimerization activity regulation of apoptotic process amyloid precursor protein metabolic process neuronal cell body synaptic cleft regulation of protein complex assembly heparan sulfate proteoglycan binding negative regulation of MAP kinase activity negative regulation of neuron apoptotic process negative regulation of blood vessel endothelial cell migration post-translational protein modification reverse cholesterol transport cellular protein metabolic process positive regulation by host of viral process macromolecular complex binding regulation of innate immune response negative regulation of cholesterol biosynthetic process positive regulation of endocytosis positive regulation of transcription, DNA-templated positive regulation of lipid biosynthetic process intracellular transport metal chelating activity protein dimerization activity tau protein binding regulation of neuronal synaptic plasticity artery morphogenesis negative regulation of protein secretion negative regulation of inflammatory response low-density lipoprotein particle receptor binding regulation of synapse organization positive regulation of nitric-oxide synthase activity positive regulation of membrane protein ectodomain proteolysis negative regulation of lipid biosynthetic process regulation of protein metabolic process maintenance of location in cell lipid homeostasis fatty acid homeostasis phosphatidylcholine-sterol O-acyltransferase activator activity positive regulation of dendritic spine development negative regulation of dendritic spine development regulation of proteasomal protein catabolic process response to caloric restriction extracellular exosome very-low-density lipoprotein particle receptor binding triglyceride homeostasis positive regulation of ERK1 and ERK2 cascade endocytic vesicle lumen lipoprotein particle binding triglyceride-rich lipoprotein particle clearance intermediate-density lipoprotein particle clearance cardiovascular system development blood microparticle negative regulation of canonical Wnt signaling pathway regulation of cholesterol metabolic process negative regulation of triglyceride metabolic process negative regulation of cholesterol efflux regulation of plasma lipoprotein particle levels AMPA glutamate receptor clustering NMDA glutamate receptor clustering cellular oxidant detoxification glutamatergic synapse regulation of beta-amyloid clearance positive regulation of beta-amyloid clearance negative regulation of long-term synaptic potentiation regulation of neuron death negative regulation of neuron death positive regulation of neuron death negative regulation of postsynaptic membrane organization positive regulation of postsynaptic membrane organization negative regulation of presynaptic membrane organization positive regulation of presynaptic membrane organization positive regulation of beta-amyloid formation negative regulation of beta-amyloid formation regulation of tau-protein kinase activity negative regulation of dendritic spine maintenance positive regulation of dendritic spine maintenance regulation of amyloid precursor protein catabolic process positive regulation of phospholipid efflux positive regulation of neurofibrillary tangle assembly negative regulation of phospholipid efflux negative regulation of lipid transport across blood brain barrier positive regulation of lipid transport across blood brain barrier extracellular vesicle lipoprotein particle regulation of behavioral fear response uc002pab.1 uc002pab.2 uc002pab.3 uc002pab.4 uc002pab.5 
ENST00000252487.9 TOMM40 ENST00000252487.9 Channel-forming protein essential for import of protein precursors into mitochondria (By similarity). (from UniProt O96008) BC047528 C19orf1 ENST00000252487.1 ENST00000252487.2 ENST00000252487.3 ENST00000252487.4 ENST00000252487.5 ENST00000252487.6 ENST00000252487.7 ENST00000252487.8 O96008 PEREC1 Q86VW4 Q8WY09 Q8WY10 Q8WY11 Q9BR95 TOM40 TOM40_HUMAN uc002ozx.1 uc002ozx.2 uc002ozx.3 uc002ozx.4 Channel-forming protein essential for import of protein precursors into mitochondria (By similarity). 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 mitochondrial targeting sequences. Mitochondrion outer membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O96008-1; Sequence=Displayed; Name=2; IsoId=O96008-2; Sequence=VSP_008589, VSP_008590; Note=No experimental confirmation available; Belongs to the Tom40 family. protein binding mitochondrion mitochondrial outer membrane mitochondrial outer membrane translocase complex mitochondrial inner membrane cytosol protein targeting to mitochondrion ion transport protein transmembrane transporter activity protein transport porin activity membrane integral component of membrane macroautophagy protein import into mitochondrial matrix integral component of mitochondrial outer membrane pore complex transmembrane transport uc002ozx.1 uc002ozx.2 uc002ozx.3 uc002ozx.4 
ENST00000252490.7 APOC2 ENST00000252490.7 Homo sapiens apolipoprotein C2 (APOC2), mRNA. (from RefSeq NM_000483) APC2 APOC2_HUMAN C0JYY4 ENST00000252490.1 ENST00000252490.2 ENST00000252490.3 ENST00000252490.4 ENST00000252490.5 ENST00000252490.6 NM_000483 P02655 Q9BS39 Q9UDE3 Q9UNK3 uc060zuu.1 uc060zuu.2 uc060zuu.3 This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring upstream apolipoprotein C-IV (APOC4) gene. [provided by RefSeq, Mar 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DRR138522.323648.1, DRR138522.1680542.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252490.7/ ENSP00000252490.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Component of the very low density lipoprotein (VLDL) fraction in plasma, and is an activator of several triacylglycerol lipases. The association of APOC2 with plasma chylomicrons, VLDL, and HDL is reversible, a function of the secretion and catabolism of triglyceride-rich lipoproteins, and changes rapidly. Secreted. Secreted in plasma. Defects in APOC2 are the cause of hyperlipoproteinemia type 1B (HLPP1B) [MIM:207750]. It is an autosomal recessive trait characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. Belongs to the apolipoprotein C2 family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APOC2"; retinoid metabolic process extracellular region extracellular space early endosome lipid metabolic process lipid transport enzyme activator activity lipid binding positive regulation of phospholipase activity positive regulation of triglyceride catabolic process positive regulation of very-low-density lipoprotein particle remodeling negative regulation of very-low-density lipoprotein particle clearance phospholipase activator activity lipid catabolic process negative regulation of cholesterol transport cholesterol efflux phospholipid efflux very-low-density lipoprotein particle low-density lipoprotein particle intermediate-density lipoprotein particle high-density lipoprotein particle spherical high-density lipoprotein particle triglyceride-rich lipoprotein particle remodeling chylomicron remodeling very-low-density lipoprotein particle remodeling high-density lipoprotein particle remodeling chylomicron assembly chylomicron remnant clearance high-density lipoprotein particle clearance response to drug chylomicron cholesterol homeostasis protein homodimerization activity lipoprotein transport negative regulation of catalytic activity phospholipase binding reverse cholesterol transport positive regulation of fatty acid biosynthetic process negative regulation of lipid metabolic process negative regulation of receptor-mediated endocytosis positive regulation of lipoprotein lipase activity lipase inhibitor activity lipoprotein lipase activator activity positive regulation of phospholipid catabolic process triglyceride homeostasis uc060zuu.1 uc060zuu.2 uc060zuu.3 
ENST00000252505.4 ALLC ENST00000252505.4 Homo sapiens allantoicase (ALLC), mRNA. (from RefSeq NM_018436) ALLC_HUMAN ENST00000252505.1 ENST00000252505.2 ENST00000252505.3 NM_018436 Q53T95 Q5RL81 Q8N6M5 Q96RE6 Q9NZA7 uc010ewt.1 uc010ewt.2 uc010ewt.3 uc010ewt.4 uc010ewt.5 Allantoicase (EC 3.5.3.4) participates in the uric acid degradation pathway. Its enzymatic activity, like that of urate oxidase (MIM 191540), was lost during vertebrate evolution.[supplied by OMIM, Nov 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.188641.1, AK302299.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252505.4/ ENSP00000252505.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## The function of this enzyme is unclear as allantoicase activity is not known to exist in mammals. Allantoate + H(2)O = (S)-ureidoglycolate + urea. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8N6M5-1; Sequence=Displayed; Name=2; IsoId=Q8N6M5-2; Sequence=VSP_015618; Belongs to the allantoicase family. Sequence=AAY24236.1; Type=Erroneous gene model prediction; allantoin catabolic process allantoicase activity hydrolase activity uc010ewt.1 uc010ewt.2 uc010ewt.3 uc010ewt.4 uc010ewt.5 
ENST00000252506.11 GADD45G ENST00000252506.11 Homo sapiens growth arrest and DNA damage inducible gamma (GADD45G), mRNA. (from RefSeq NM_006705) CR6 DDIT2 ENST00000252506.1 ENST00000252506.10 ENST00000252506.2 ENST00000252506.3 ENST00000252506.4 ENST00000252506.5 ENST00000252506.6 ENST00000252506.7 ENST00000252506.8 ENST00000252506.9 GA45G_HUMAN NM_006705 O95257 Q9C076 uc004aqq.1 uc004aqq.2 uc004aqq.3 uc004aqq.4 uc004aqq.5 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 protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The GADD45G is highly expressed in placenta. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF079806.1, SRR1803613.413299.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252506.11/ ENSP00000252506.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Involved in the regulation of growth and apoptosis. Mediates activation of stress-responsive MTK1/MEKK4 MAPKKK. Interacts with GADD45GIP1. Q8TAE8:GADD45GIP1; NbExp=4; IntAct=EBI-448202, EBI-372506; Q92993:KAT5; NbExp=2; IntAct=EBI-448202, EBI-399080; Q9P2H0:KIAA1377; NbExp=2; IntAct=EBI-448202, EBI-473176; Q9Y3C7:MED31; NbExp=2; IntAct=EBI-448202, EBI-394707; Q9BVJ6:UTP14A; NbExp=2; IntAct=EBI-448202, EBI-473284; Belongs to the GADD45 family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/gadd45g/"; Name=Wikipedia; Note=GADD45G entry; URL="http://en.wikipedia.org/wiki/GADD45G"; activation of MAPKKK activity protein binding nucleus cytoplasm 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 uc004aqq.1 uc004aqq.2 uc004aqq.3 uc004aqq.4 uc004aqq.5 
ENST00000252512.14 XPO7 ENST00000252512.14 Homo sapiens exportin 7 (XPO7), transcript variant 5, non-coding RNA. (from RefSeq NR_156173) ENST00000252512.1 ENST00000252512.10 ENST00000252512.11 ENST00000252512.12 ENST00000252512.13 ENST00000252512.2 ENST00000252512.3 ENST00000252512.4 ENST00000252512.5 ENST00000252512.6 ENST00000252512.7 ENST00000252512.8 ENST00000252512.9 KIAA0745 NR_156173 O94846 Q6PJK9 Q8NEK7 Q9UIA9 RANBP16 XPO7_HUMAN uc003xaa.1 uc003xaa.2 uc003xaa.3 uc003xaa.4 uc003xaa.5 uc003xaa.6 The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-16 is a member of the importin-beta superfamily of nuclear transport receptors.[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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.246979.1 [ECO:0000332] ##Evidence-Data-END## Mediates the nuclear export of proteins (cargos) with broad substrate specificity. In the nucleus binds cooperatively to its cargo and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the cargo from the export receptor. XPO7 then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Binds to nucleoporins. Found in a complex with XPO7, EIF4A1, ARHGAP1, VPS26A, VPS29, VPS35 and SFN. Interacts with ARHGAP1 and SFN. Interacts with Ran and cargo proteins in a GTP- dependent manner. Cytoplasm. Nucleus (Probable). Nucleus, nuclear pore complex (Probable). Note=Shuttles between the nucleus and the cytoplasm (Probable). Strong expression in testis, thyroid and bone marrow, low expression in lung, liver and small intestine, no expression in thymus, and remaining tissues studied have moderate expression. Expressed in red blood cells; overexpressed in red blood cells (cytoplasm) of patients with hereditary non- spherocytic hemolytic anemia of unknown etiology. Belongs to the exportin family. Contains 1 importin N-terminal domain. Sequence=BAA34465.1; Type=Erroneous initiation; nuclear export signal receptor activity protein binding nucleus nuclear pore cytoplasm protein export from nucleus intracellular protein transport Ran GTPase binding protein transport mRNA transport nuclear transport uc003xaa.1 uc003xaa.2 uc003xaa.3 uc003xaa.4 uc003xaa.5 uc003xaa.6 
ENST00000252530.10 FAM98C ENST00000252530.10 Homo sapiens family with sequence similarity 98 member C (FAM98C), transcript variant 1, mRNA. (from RefSeq NM_174905) A6NMW3 ENST00000252530.1 ENST00000252530.2 ENST00000252530.3 ENST00000252530.4 ENST00000252530.5 ENST00000252530.6 ENST00000252530.7 ENST00000252530.8 ENST00000252530.9 FA98C_HUMAN NM_174905 Q17RN3 Q66K45 uc002oin.1 uc002oin.2 uc002oin.3 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q17RN3-1; Sequence=Displayed; Name=2; IsoId=Q17RN3-2; Sequence=VSP_024142, VSP_024143; Note=No experimental confirmation available; Belongs to the FAM98 family. tRNA-splicing ligase complex uc002oin.1 uc002oin.2 uc002oin.3 
ENST00000252542.9 SAFB2 ENST00000252542.9 Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA. (from RefSeq NM_014649) ENST00000252542.1 ENST00000252542.2 ENST00000252542.3 ENST00000252542.4 ENST00000252542.5 ENST00000252542.6 ENST00000252542.7 ENST00000252542.8 KIAA0138 NM_014649 Q14151 Q8TB13 SAFB2_HUMAN uc002mcd.1 uc002mcd.2 uc002mcd.3 uc002mcd.4 uc002mcd.5 The protein encoded by this gene, along with its paralog (scaffold attachment factor B1), is a repressor of estrogen receptor alpha. The encoded protein binds scaffold/matrix attachment region (S/MAR) DNA and is involved in cell cycle regulation, apoptosis, differentiation, the stress response, and regulation of immune genes. [provided by RefSeq, May 2016]. ##Evidence-Data-START## Transcript exon combination :: D50928.1, SRR1660807.108917.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252542.9/ ENSP00000252542.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Binds to scaffold/matrix attachment region (S/MAR) DNA. Can function as an estrogen receptor corepressor and can also inhibit cell proliferation. Interacts with SAFB/SAFB1 and SCAM1. Interacts with isoform 2 SRPK1 and inhibits its activity. P03372:ESR1; NbExp=2; IntAct=EBI-352869, EBI-78473; Q9H0R8:GABARAPL1; NbExp=2; IntAct=EBI-352869, EBI-3464833; Q9GZQ8:MAP1LC3B; NbExp=3; IntAct=EBI-352869, EBI-373144; Q15424:SAFB; NbExp=3; IntAct=EBI-352869, EBI-348298; O60504-2:SORBS3; NbExp=3; IntAct=EBI-352869, EBI-1222956; Cytoplasm. Nucleus. Expressed at high levels in the CNS and at low levels in the liver. Expressed in a wide number of breast cancer cell lines. Phosphorylated upon DNA damage, probably by ATM or ATR (By similarity). Contains 1 RRM (RNA recognition motif) domain. Contains 1 SAP domain. Sequence=BAA09487.2; Type=Erroneous initiation; nucleic acid binding DNA binding RNA binding protein binding nucleus nucleoplasm cytoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter nuclear body identical protein binding intracellular membrane-bounded organelle sequence-specific DNA binding regulation of mRNA processing Sertoli cell differentiation regulation of androgen receptor signaling pathway extracellular exosome uc002mcd.1 uc002mcd.2 uc002mcd.3 uc002mcd.4 uc002mcd.5 
ENST00000252575.11 NCAN ENST00000252575.11 Homo sapiens neurocan (NCAN), mRNA. (from RefSeq NM_004386) CSPG3 ENST00000252575.1 ENST00000252575.10 ENST00000252575.2 ENST00000252575.3 ENST00000252575.4 ENST00000252575.5 ENST00000252575.6 ENST00000252575.7 ENST00000252575.8 ENST00000252575.9 NCAN_HUMAN NEUR NM_004386 O14594 Q9UPK6 uc002nlz.1 uc002nlz.2 uc002nlz.3 uc002nlz.4 uc002nlz.5 Neurocan is a chondroitin sulfate proteoglycan thought to be involved in the modulation of cell adhesion and migration.[supplied by OMIM, Jul 2002]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB210004.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145743, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252575.11/ ENSP00000252575.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May modulate neuronal adhesion and neurite growth during development by binding to neural cell adhesion molecules (NG-CAM and N-CAM). Chondroitin sulfate proteoglycan; binds to hyaluronic acid. Secreted (By similarity). Brain. Belongs to the aggrecan/versican proteoglycan family. Contains 1 C-type lectin domain. Contains 2 EGF-like domains. Contains 1 Ig-like V-type (immunoglobulin-like) domain. Contains 2 Link domains. Contains 1 Sushi (CCP/SCR) domain. Name=Functional Glycomics Gateway - Glycan Binding; Note=Neurocan; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_213"; skeletal system development calcium ion binding hyaluronic acid binding extracellular region Golgi lumen cell adhesion central nervous system development extracellular matrix organization chondroitin sulfate biosynthetic process chondroitin sulfate catabolic process dermatan sulfate biosynthetic process carbohydrate binding extracellular matrix lysosomal lumen uc002nlz.1 uc002nlz.2 uc002nlz.3 uc002nlz.4 uc002nlz.5 
ENST00000252590.9 PLVAP ENST00000252590.9 Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA. (from RefSeq NM_031310) ENST00000252590.1 ENST00000252590.2 ENST00000252590.3 ENST00000252590.4 ENST00000252590.5 ENST00000252590.6 ENST00000252590.7 ENST00000252590.8 FELS NM_031310 PLVAP_HUMAN PV1 Q86VP0 Q8N8Y0 Q8ND68 Q8TER8 Q9BX97 Q9BZD5 uc002ngk.1 uc002ngk.2 uc002ngk.3 Involved in the formation of stomatal and fenestral diaphragms of caveolae. May function in microvascular permeability. Homodimer (By similarity). Cell membrane; Single-pass type II membrane protein (By similarity). Membrane, caveola; Single-pass type II membrane protein (By similarity). Cytoplasm, perinuclear region (By similarity). Note=Membrane-associated protein of caveolae. Found in fenestral and stomatal diaphragms in fenestrated endothelia and transendothelial channels. Also colocalized with CAV1 in perinuclear region (By similarity). Expressed in lung, kidney, heart, aorta, placenta, muscle, pituitary gland, adrenals, mammary gland, bladder, lymph node, bone marrow, trachea, digestive tract, liver and tumor-associated endothelium. By phorbol myristate acetate (PMA) or VEGF in endothelial cell culture. MAPK cascade positive regulation of cellular extravasation protein binding cytoplasm plasma membrane caveola cell surface membrane integral component of membrane developmental process tumor necrosis factor-mediated signaling pathway protein homodimerization activity perinuclear region of cytoplasm extracellular exosome protein kinase C signaling uc002ngk.1 uc002ngk.2 uc002ngk.3 
ENST00000252593.7 BST2 ENST00000252593.7 Homo sapiens bone marrow stromal cell antigen 2 (BST2), mRNA. (from RefSeq NM_004335) A8K4Y4 BST2_HUMAN ENST00000252593.1 ENST00000252593.2 ENST00000252593.3 ENST00000252593.4 ENST00000252593.5 ENST00000252593.6 NM_004335 Q10589 Q53G07 uc060vid.1 uc060vid.2 Bone marrow stromal cells are involved in the growth and development of B-cells. The specific function of the protein encoded by the bone marrow stromal cell antigen 2 is undetermined; however, this protein may play a role in pre-B-cell growth and in rheumatoid arthritis. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.37787.1, SRR1163655.21422.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252593.7/ ENSP00000252593.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## IFN-induced antiviral host restriction factor which efficiently blocks the release of diverse mammalian enveloped viruses by directly tethering nascent virions to the membranes of infected cells. Acts as a direct physical tether, holding virions to the cell membrane and linking virions to each other. The tethered virions can be internalized by endocytosis and subsequently degraded or they can remain on the cell surface. In either case, their spread as cell-free virions is restricted. Its target viruses belong to diverse families, including retroviridae: human immunodeficiency virus type 1 (HIV-1), human immunodeficiency virus type 2 (HIV-2), simian immunodeficiency viruses (SIVs), equine infectious anemia virus (EIAV), feline immunodeficiency virus (FIV), prototype foamy virus (PFV), Mason- Pfizer monkey virus (MPMV), human T-cell leukemia virus type 1 (HTLV-1), Rous sarcoma virus (RSV) and murine leukemia virus (MLV), flavivirideae: hepatitis C virus (HCV), filoviridae: ebola virus (EBOV) and marburg virus (MARV), arenaviridae: lassa virus (LASV) and machupo virus (MACV), herpesviridae: kaposis sarcoma- associated herpesvirus (KSHV), rhabdoviridae: vesicular stomatitis virus (VSV), orthomyxoviridae: influenza A virus, and paramyxoviridae: nipah virus. Can inhibit cell surface proteolytic activity of MMP14 causing decreased activation of MMP15 which results in inhibition of cell growth and migration. Can stimulate signaling by LILRA4/ILT7 and consequently provide negative feedback to the production of IFN by plasmacytoid dendritic cells in response to viral infection. Plays a role in the organization of the subapical actin cytoskeleton in polarized epithelial cells. Parallel homodimer; disulfide-linked. May form homotetramers under reducing conditions. Dimerization is essential for its antiviral activity. Interacts (via cytoplasmic domain) with ARHGAP44 (By similarity). Interacts with MMP14 (via C- terminal cytoplasmic tail). Interacts with LILRA4/ILT7. Interacts (via transmembrane domain) with HIV-1 VPU (via transmembrane domain). Interacts with HIV-2 ENV and ebola GP protein. Golgi apparatus, trans-Golgi network. Cell membrane; Single-pass type II membrane protein. Cell membrane; Lipid-anchor, GPI-anchor. Late endosome. Membrane raft. Cytoplasm. Apical cell membrane (By similarity). Note=Shuttles between the cell membrane, where it is present predominantly in membrane/lipid rafts, and the trans-Golgi network. HIV-1 VPU and HIV-2 ENV can target it to the trans-Golgi network thus sequestering it away from virus assembly sites on the cell membrane. Targeted to late endosomes upon KSHV infection and subsequent ubiquitination. Forms a complex with MMP14 and localizes to the cytoplasm. Predominantly expressed in liver, lung, heart and placenta. Lower levels in pancreas, kidney, skeletal muscle and brain. Overexpressed in multiple myeloma cells. Highly expressed during B-cell development, from pro-B precursors to plasma cells. Highly expressed on T-cells, monocytes, NK cells and dendritic cells (at protein level). By type I interferons. Down-regulated by viral antagonistic factors which include: HIV-1 VPU protein, HIV-2 ENV protein, KSHV K5 protein and ebola virus GP protein. VPU and ENV antagonize its function by targeting it to the trans-Golgi network, sequestering it away from virus assembly sites on the cell membrane. VPU also acts as an adapter molecule linking it to BTRC, a substrate recognition subunit of the Skp1/Cullin/F-box protein E3 ubiquitin ligase, inducing its ubiquitination and subsequent proteasomal degradation. K5 ubiquitinates it leading to its targeting to late endosomes and degradation. The extracellular coiled coil domain forms an extended 170 A long semi-flexible rod-like structure important for virion retention at the cell surface and prevention of virus spreading. Monoubiquitinated by KSHV E3 ubiquitin-protein ligase K5, leading to its targeting to late endosomes and degradation. The GPI anchor is essential for its antiviral activity. Tetherin shows evidence of positive (adaptive) selection, presumably as a result of evolutionary pressure applied by antagonistic viral proteins that counteract its inhibitiory activity and this has led to the species-specific tetherin sensitivity to viral countermeasures. For example, Tantalus monkey tetherin cannot be abrogated by HIV-1 VPU due to variation in the tetherin transmembrane region. Similarly, SIV Nefs are able to overcome simian tetherins, but not human tetherin, due to a unique 5-amino-acid deletion in the cytoplasmic tail domain of human tetherin (PubMed:19917491). Belongs to the tetherin family. immune system process negative regulation of plasmacytoid dendritic cell cytokine production RNA binding protein binding cytoplasm endosome late endosome multivesicular body Golgi apparatus cytosol plasma membrane metalloendopeptidase inhibitor activity response to virus cell surface negative regulation of endopeptidase activity membrane integral component of membrane apical plasma membrane negative regulation of cell growth negative regulation of cell migration anchored component of membrane regulation of actin cytoskeleton organization response to interferon-gamma response to interferon-alpha response to interferon-beta azurophil granule membrane B cell activation identical protein binding protein homodimerization activity positive regulation of I-kappaB kinase/NF-kappaB signaling neutrophil degranulation negative regulation of viral genome replication innate immune response membrane raft defense response to virus type I interferon signaling pathway extracellular exosome positive regulation of leukocyte proliferation negative regulation of intracellular transport of viral material uc060vid.1 uc060vid.2 
ENST00000252595.12 SLC27A1 ENST00000252595.12 Homo sapiens solute carrier family 27 member 1 (SLC27A1), mRNA. (from RefSeq NM_198580) A6NIH2 ACSVL5 ENST00000252595.1 ENST00000252595.10 ENST00000252595.11 ENST00000252595.2 ENST00000252595.3 ENST00000252595.4 ENST00000252595.5 ENST00000252595.6 ENST00000252595.7 ENST00000252595.8 ENST00000252595.9 FATP1 NM_198580 Q6PCB7 S27A1_HUMAN uc002ngu.1 uc002ngu.2 uc002ngu.3 Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. The LFCA import appears to be hormone-regulated in a tissue-specific manner. In adipocytes, but not myocytes, insulin induces a rapid translocation of FATP1 from intracellular compartments to the plasma membrane, paralleled by increased LFCA uptake. May act directly as a bona fide transporter, or alternatively, in a cytoplasmic or membrane- associated multimeric protein complex to trap and draw fatty acids towards accumulation. Plays a pivotal role in regulating available LFCA substrates from exogenous sources in tissues undergoing high levels of beta-oxidation or triglyceride synthesis. May be involved in regulation of cholesterol metabolism. Has acyl-CoA ligase activity for long-chain and very-long-chain fatty acids (By similarity). Self-associates. May function as a homodimer (By similarity). Cell membrane; Single-pass membrane protein. Endomembrane system; Single-pass membrane protein. Cytoplasm (By similarity). Note=Plasma membrane and intracellular membranes, at least in adipocytes. Predominantly cytoplasmic in myocytes (By similarity). Highest levels of expression are detected in muscle and adipose tissue small, intermediate levels in small intestine, and barely detectable in liver. FATP1-mediated fatty acid uptake is associated to paramaters related to insulin resistance, which is associated with disturbed fatty acid metabolism and homeostasis, such as obesity. Belongs to the ATP-dependent AMP-binding enzyme family. nucleotide binding medium-chain fatty acid transport long-chain fatty acid metabolic process catalytic activity long-chain fatty acid-CoA ligase activity long-chain fatty acid transporter activity protein binding cytoplasm mitochondrion endoplasmic reticulum cytosol plasma membrane integral component of plasma membrane lipid metabolic process fatty acid metabolic process phosphatidylethanolamine biosynthetic process phosphatidic acid biosynthetic process phosphatidylglycerol biosynthetic process phosphatidylcholine biosynthetic process phosphatidylserine biosynthetic process phosphatidylinositol biosynthetic process lipid transport response to cold positive regulation of triglyceride biosynthetic process endomembrane system fatty acid transporter activity fatty acid transport long-chain fatty acid transport membrane integral component of membrane ligase activity regulation of lipid metabolic process positive regulation of heat generation very long-chain fatty acid-CoA ligase activity cardiolipin biosynthetic process response to insulin adiponectin-activated signaling pathway protein homodimerization activity long-chain fatty acid import negative regulation of phospholipid biosynthetic process positive regulation of protein serine/threonine kinase activity mitochondrial inner membrane uc002ngu.1 uc002ngu.2 uc002ngu.3 
ENST00000252597.8 USHBP1 ENST00000252597.8 Homo sapiens USH1 protein network component harmonin binding protein 1 (USHBP1), transcript variant 1, mRNA. (from RefSeq NM_031941) AIEBP ENST00000252597.1 ENST00000252597.2 ENST00000252597.3 ENST00000252597.4 ENST00000252597.5 ENST00000252597.6 ENST00000252597.7 MCC2 NM_031941 Q8N6Y0 Q8NBX7 Q96KH3 Q9BYI8 USBP1_HUMAN uc002nfs.1 uc002nfs.2 uc002nfs.3 Interacts via its C-terminus with the first PDZ domain of USH1C. O15155:BET1; NbExp=2; IntAct=EBI-739895, EBI-749204; Q8IYI6:EXOC8; NbExp=2; IntAct=EBI-739895, EBI-742102; Q9BVI4:NOC4L; NbExp=2; IntAct=EBI-739895, EBI-395927; Q9UJW9:SERTAD3; NbExp=4; IntAct=EBI-739895, EBI-748621; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8N6Y0-1; Sequence=Displayed; Name=2; IsoId=Q8N6Y0-2; Sequence=VSP_052080; Note=Due to the retention of an intron in the cDNA leading to a prematurate stop codon; Highest level of expression in heart, and moderate to low expression in skeletal muscle, kidney, liver, small intestine, placenta and lung. Belongs to the MCC family. Sequence=BAC11443.1; Type=Erroneous initiation; protein binding PDZ domain binding uc002nfs.1 uc002nfs.2 uc002nfs.3 
ENST00000252599.9 COLGALT1 ENST00000252599.9 Homo sapiens collagen beta(1-O)galactosyltransferase 1 (COLGALT1), mRNA. (from RefSeq NM_024656) ENST00000252599.1 ENST00000252599.2 ENST00000252599.3 ENST00000252599.4 ENST00000252599.5 ENST00000252599.6 ENST00000252599.7 ENST00000252599.8 GLT25D1 GT251_HUMAN NM_024656 PSEC0241 Q8NBJ5 Q8NC64 uc002nhc.1 uc002nhc.2 uc002nhc.3 The protein encoded by this gene is one of two enzymes that transfers galactose moieties to hydroxylysine residues of collagen and mannose binding lectin. This gene is constitutively expressed and encodes a soluble protein that localizes to the endoplasmic reticulum. [provided by RefSeq, Dec 2015]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: BC108308.1, AK075541.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252599.9/ ENSP00000252599.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Has a beta-galactosyltransferase activity; transfers beta-galactose to hydroxylysine residues of collagen. UDP-alpha-D-galactose + 5-hydroxy-L-lysine- [procollagen] = UDP + 5-(D-galactosyloxy)-L-lysine-[procollagen]. Kinetic parameters: KM=18.7 uM for UDP-galactose; Endoplasmic reticulum lumen. Note=Colocalized with PLOD3 and mannose binding lectin. Ubiquitous with higher levels in placenta, heart, lung and spleen. N-glycosylated. Belongs to the glycosyltransferase 25 family. Has no glucosyltransferase activity. endoplasmic reticulum endoplasmic reticulum lumen membrane transferase activity transferase activity, transferring glycosyl groups procollagen galactosyltransferase activity positive regulation of collagen fibril organization uc002nhc.1 uc002nhc.2 uc002nhc.3 
ENST00000252603.7 PGLS ENST00000252603.7 Homo sapiens 6-phosphogluconolactonase (PGLS), mRNA. (from RefSeq NM_012088) 6PGL_HUMAN ENST00000252603.1 ENST00000252603.2 ENST00000252603.3 ENST00000252603.4 ENST00000252603.5 ENST00000252603.6 NM_012088 O95336 uc002ngw.1 uc002ngw.2 uc002ngw.3 uc002ngw.4 uc002ngw.5 Hydrolysis of 6-phosphogluconolactone to 6- phosphogluconate. 6-phospho-D-glucono-1,5-lactone + H(2)O = 6- phospho-D-gluconate. Carbohydrate degradation; pentose phosphate pathway; D- ribulose 5-phosphate from D-glucose 6-phosphate (oxidative stage): step 2/3. Cytoplasm (By similarity). Belongs to the glucosamine/galactosamine-6-phosphate isomerase family. 6-phosphogluconolactonase subfamily. Sequence=AAC72960.1; Type=Erroneous initiation; protein binding cytoplasm cytosol carbohydrate metabolic process pentose-phosphate shunt pentose-phosphate shunt, oxidative branch hydrolase activity 6-phosphogluconolactonase activity extracellular exosome uc002ngw.1 uc002ngw.2 uc002ngw.3 uc002ngw.4 uc002ngw.5 
ENST00000252622.15 LSM7 ENST00000252622.15 Homo sapiens LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated (LSM7), mRNA. (from RefSeq NM_016199) ENST00000252622.1 ENST00000252622.10 ENST00000252622.11 ENST00000252622.12 ENST00000252622.13 ENST00000252622.14 ENST00000252622.2 ENST00000252622.3 ENST00000252622.4 ENST00000252622.5 ENST00000252622.6 ENST00000252622.7 ENST00000252622.8 ENST00000252622.9 LSM7_HUMAN NM_016199 Q9UK45 uc002lvp.1 uc002lvp.2 uc002lvp.3 uc002lvp.4 uc002lvp.5 uc002lvp.6 Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 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 :: SRR1163658.371098.1, BU535736.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMN04284274 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252622.15/ ENSP00000252622.8 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Binds specifically to the 3'-terminal U-tract of U6 snRNA. LSm subunits form a heteromer with a doughnut shape. Also interacts with TACC1. Q9Y333:LSM2; NbExp=4; IntAct=EBI-348372, EBI-347416; P62310:LSM3; NbExp=3; IntAct=EBI-348372, EBI-348239; Q9Y4Z0:LSM4; NbExp=5; IntAct=EBI-348372, EBI-372521; Q9Y4Y9:LSM5; NbExp=4; IntAct=EBI-348372, EBI-373007; P62312:LSM6; NbExp=3; IntAct=EBI-348372, EBI-373310; O75410-1:TACC1; NbExp=4; IntAct=EBI-348372, EBI-624252; O75410-6:TACC1; NbExp=2; IntAct=EBI-348372, EBI-624278; Nucleus (Potential). Belongs to the snRNP Sm proteins family. mRNA splicing, via spliceosome nuclear-transcribed mRNA catabolic process RNA binding protein binding nucleus nucleoplasm spliceosomal complex U6 snRNP U12-type spliceosomal complex cytosol mRNA processing RNA splicing U6 snRNA binding exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay U4/U6 x U5 tri-snRNP complex U2-type prespliceosome U2-type precatalytic spliceosome catalytic step 2 spliceosome Lsm1-7-Pat1 complex uc002lvp.1 uc002lvp.2 uc002lvp.3 uc002lvp.4 uc002lvp.5 uc002lvp.6 
ENST00000252674.9 MLLT1 ENST00000252674.9 Homo sapiens MLLT1 super elongation complex subunit (MLLT1), mRNA. (from RefSeq NM_005934) ENL ENL_HUMAN ENST00000252674.1 ENST00000252674.2 ENST00000252674.3 ENST00000252674.4 ENST00000252674.5 ENST00000252674.6 ENST00000252674.7 ENST00000252674.8 LTG19 NM_005934 Q03111 Q14768 YEATS1 uc002mek.1 uc002mek.2 uc002mek.3 uc002mek.4 uc002mek.5 Capable of activating transcription from synthetic reporter genes in both lymphoid and myeloid cells. Q9UHB7:AFF4; NbExp=8; IntAct=EBI-1384215, EBI-395282; Q8TEK3:DOT1L; NbExp=4; IntAct=EBI-1384215, EBI-2619253; Nucleus. Note=A chromosomal aberration involving MLLT1 is associated with acute leukemias. Translocation t(11;19)(q23;p13.3) with MLL/HRX. The result is a rogue activator protein. Contains 1 YEATS domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ENL.html"; RNA polymerase II transcription factor activity, sequence-specific DNA binding fibrillar center DNA binding protein binding nucleus nucleoplasm cytosol regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter transcription elongation from RNA polymerase II promoter negative regulation of protein kinase activity transcription elongation factor complex uc002mek.1 uc002mek.2 uc002mek.3 uc002mek.4 uc002mek.5 
ENST00000252677.4 BMP15 ENST00000252677.4 Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA. (from RefSeq NM_005448) BMP15_HUMAN ENST00000252677.1 ENST00000252677.2 ENST00000252677.3 GDF9B NM_005448 O95972 Q17RM6 Q5JST1 Q9UMS1 uc011mnw.1 uc011mnw.2 uc011mnw.3 uc011mnw.4 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate subunits of a disulfide-linked homodimer, or alternatively, a heterodimer, with the related protein, growth differentiation factor 9 (GDF9). This protein plays a role in oocyte maturation and follicular development, through activation of granulosa cells. Defects in this gene are the cause of ovarian dysgenesis and are associated with premature ovarian failure. [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 :: BC117264.1, BC069155.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2151119 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252677.4/ ENSP00000252677.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May be involved in follicular development. Oocyte- specific growth/differentiation factor that stimulates folliculogenesis and granulosa cell (GC) growth. Homodimer. But, in contrast to other members of this family, cannot be disulfide-linked. Secreted. Defects in BMP15 are the cause of ovarian dysgenesis type 2 (ODG2) [MIM:300510]; also known as X-linked hypergonadotropic ovarian dysgenesis or hypergonadotropic ovarian failure due to ovarian dysgenesis. Ovarian dysgenesis leads to ovarian failure and accounts for about half of the cases of primary amenorrhea. Defects in BMP15 are the cause of premature ovarian failure type 4 (POF4) [MIM:300510]. An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. The mature protein migrates in two distinct mature proteins, P16 (16KDa) and P17 (17KDa). Ovarian physiology and fertility are controlled by endocrine and paracrine signals. These act in a species-dependent manner and determine the ovulation quota in different mammalian species. While humans, and mammals such as the cow or red deer, normally ovulate only one egg per cycle, other mammals such as mouse and pig can ovulate in excess of ten per cycle. The mechanisms that regulate the species-specific differences in the number of follicles that go onto ovulate during each reproductive cycle are poorly understood. According to PubMed:21970812, mRNA expression levels of GDF9 and BMP15 are tightly co-regulated within each species and influence species-specific ovulation- rates. Belongs to the TGF-beta family. ovarian follicle development cytokine activity transforming growth factor beta receptor binding extracellular region extracellular space cytoplasm endoplasmic reticulum lumen female gamete generation growth factor activity positive regulation of pathway-restricted SMAD protein phosphorylation BMP signaling pathway regulation of apoptotic process regulation of MAPK cascade post-translational protein modification cellular protein metabolic process positive regulation of transcription, DNA-templated cell development granulosa cell development SMAD protein signal transduction uc011mnw.1 uc011mnw.2 uc011mnw.3 uc011mnw.4 
ENST00000252699.7 ACTN4 ENST00000252699.7 Homo sapiens actinin alpha 4 (ACTN4), transcript variant 1, mRNA. (from RefSeq NM_004924) ACTN4_HUMAN ENST00000252699.1 ENST00000252699.2 ENST00000252699.3 ENST00000252699.4 ENST00000252699.5 ENST00000252699.6 NM_004924 O43707 O76048 uc002oja.1 uc002oja.2 uc002oja.3 uc002oja.4 Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC005033.1, SRR1660807.193365.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252699.7/ ENSP00000252699.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Homodimer; antiparallel (By similarity). Binds TRIM3 at the N-terminus (By similarity). Identified in a complex with CASK, IQGAP1, MAGI2, NPHS1, SPTAN1 and SPTBN1 (By similarity). Identified in a mRNP granule complex, at least composed of ACTB, ACTN4, DHX9, ERG, HNRNPA1, HNRNPA2B1, HNRNPAB, HNRNPD, HNRNPL, HNRNPR, HNRNPU, HSPA1, HSPA8, IGF2BP1, ILF2, ILF3, NCBP1, NCL, PABPC1, PABPC4, PABPN1, RPLP0, RPS3, RPS3A, RPS4X, RPS8, RPS9, SYNCRIP, TROVE2, YBX1 and untranslated mRNAs. Component of the CART complex, at least composed of ACTN4, HGS/HRS, MYO5B and TRIM3. Interacts with BAIAP1 and PDLIM2. P35222:CTNNB1; NbExp=6; IntAct=EBI-351526, EBI-491549; Q07157:TJP1; NbExp=4; IntAct=EBI-351526, EBI-79553; Nucleus. Cytoplasm. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Colocalizes with actin stress fibers. Nuclear translocation can be induced by the PI3 kinase inhibitor wortmannin or by cytochalasin D. Exclusively localized in the nucleus in a limited number of cell lines (breast cancer cell line MCF-7, oral floor cancer IMC- 2, and bladder cancer KU-7). Widely expressed. Defects in ACTN4 are the cause of focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278]. A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and edema. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. Belongs to the alpha-actinin family. Contains 1 actin-binding domain. Contains 2 CH (calponin-homology) domains. Contains 2 EF-hand domains. Contains 4 spectrin repeats. Sequence=AAC17470.1; Type=Frameshift; Positions=19, 26, 124, 130, 589, 594, 787, 806; Sequence=BAA24447.1; Type=Erroneous initiation; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACTN4"; RNA polymerase II regulatory region sequence-specific DNA binding response to hypoxia stress fiber nucleoside binding platelet degranulation transcription coactivator activity RNA binding actin binding integrin binding calcium ion binding protein binding extracellular region extracellular space nucleus cytoplasm cytosol cytoskeleton brush border cell-cell junction focal adhesion protein transport nuclear body Z disc vesicle transport along actin filament cell junction positive regulation of cell migration ligand-dependent nuclear receptor transcription coactivator activity cortical cytoskeleton platelet alpha granule lumen pseudopodium chromatin DNA binding positive regulation of sodium:proton antiporter activity macromolecular complex tumor necrosis factor-mediated signaling pathway nuclear hormone receptor binding peroxisome proliferator activated receptor signaling pathway protein homodimerization activity retinoic acid receptor binding regulation of apoptotic process neuron projection ion channel binding macromolecular complex binding metal ion binding protein N-terminus binding retinoic acid receptor signaling pathway perinuclear region of cytoplasm positive regulation of pinocytosis actin filament binding actin filament bundle assembly negative regulation of cellular component movement positive regulation of cellular component movement extracellular exosome bicellular tight junction assembly negative regulation of substrate adhesion-dependent cell spreading positive regulation of NIK/NF-kappaB signaling protein localization to bicellular tight junction regulation of nucleic acid-templated transcription positive regulation of nucleic acid-templated transcription ribonucleoprotein complex actin cytoskeleton uc002oja.1 uc002oja.2 uc002oja.3 uc002oja.4 
ENST00000252713.9 ZNF655 ENST00000252713.9 Homo sapiens zinc finger protein 655 (ZNF655), transcript variant 1, mRNA. (from RefSeq NM_138494) A4D291 B4E3M4 B7Z9Q9 D6W5T4 ENST00000252713.1 ENST00000252713.2 ENST00000252713.3 ENST00000252713.4 ENST00000252713.5 ENST00000252713.6 ENST00000252713.7 ENST00000252713.8 NM_138494 Q8IV00 Q8N720 Q8TA89 Q96EZ3 Q9BQ85 VIK ZN655_HUMAN uc003urh.1 uc003urh.2 uc003urh.3 uc003urh.4 uc003urh.5 uc003urh.6 This gene encodes a zinc finger protein. The zinc finger proteins are involved in DNA binding and protein-protein interactions. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. May be involved in transcriptional regulation. Interacts with VAV1 and CDK4. P11802:CDK4; NbExp=3; IntAct=EBI-625509, EBI-295644; P15498:VAV1; NbExp=5; IntAct=EBI-625509, EBI-625518; Nucleus (Probable). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8N720-1; Sequence=Displayed; Name=2; IsoId=Q8N720-2; Sequence=VSP_036030, VSP_036031; Note=Phosphorylated on Ser-60; Name=3; IsoId=Q8N720-3; Sequence=VSP_041157; Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 6 C2H2-type zinc fingers. molecular_function nucleic acid binding DNA binding protein binding nucleus nucleolus cytoplasm metal ion binding negative regulation of G1/S transition of mitotic cell cycle uc003urh.1 uc003urh.2 uc003urh.3 uc003urh.4 uc003urh.5 uc003urh.6 
ENST00000252723.3 EPO ENST00000252723.3 Homo sapiens erythropoietin (EPO), mRNA. (from RefSeq NM_000799) ENST00000252723.1 ENST00000252723.2 EPO_HUMAN NM_000799 P01588 Q2M2L6 Q549U2 Q9UDZ0 Q9UEZ5 Q9UHA0 uc003uwi.1 uc003uwi.2 uc003uwi.3 uc003uwi.4 uc003uwi.5 uc003uwi.6 This gene encodes a secreted, glycosylated cytokine composed of four alpha helical bundles. The encoded protein is mainly synthesized in the kidney, secreted into the blood plasma, and binds to the erythropoietin receptor to promote red blood cell production, or erythropoiesis, in the bone marrow. Expression of this gene is upregulated under hypoxic conditions, in turn leading to increased erythropoiesis and enhanced oxygen-carrying capacity of the blood. Expression of this gene has also been observed in brain and in the eye, and elevated expression levels have been observed in diabetic retinopathy and ocular hypertension. Recombinant forms of the encoded protein exhibit neuroprotective activity against a variety of potential brain injuries, as well as antiapoptotic functions in several tissue types, and have been used in the treatment of anemia and to enhance the efficacy of cancer therapies. [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 :: X02157.1, BC093628.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2158188, SAMEA2159368 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252723.3/ ENSP00000252723.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Erythropoietin is the principal hormone involved in the regulation of erythrocyte differentiation and the maintenance of a physiological level of circulating erythrocyte mass. P19235:EPOR; NbExp=2; IntAct=EBI-1027362, EBI-617321; Secreted. Produced by kidney or liver of adult mammals and by liver of fetal or neonatal mammals. Genetic variation in EPO is associated with susceptbility to microvascular complications of diabetes type 2 (MVCD2) [MIM:612623]. These are pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. Used for the treatment of anemia. Available under the names Epogen (Amgen), Epogin (Chugai), Epomax (Elanex), Eprex (Janssen-Cilag), NeoRecormon or Recormon (Roche), Dynepo (Shire Pharmaceuticals) and Procrit (Ortho Biotech). Variations in the glycosylation pattern of EPO distinguishes these products. Epogen, Epogin, Eprex and Procrit are generically known as epoetin alfa, NeoRecormon and Recormon as epoetin beta, Dynepo as epoetin delta and Epomax as epoetin omega. Epoetin zeta is the name used for some 'biosimilars' forms of epoetin alfa and is available under the names Silapo (Stada) and Retacrit (Hospira). Darbepoetin alfa is a form created by 5 substitutions (Asn-57, Thr-59, Val-114, Asn-115 and Thr-117) that create 2 new N-glycosylation sites. It has a longer circulating half-life in vivo. It is available under the name Aranesp (Amgen). EPO is being much misused as a performance-enhancing drug in endurance athletes. Belongs to the EPO/TPO family. Name=R&D Systems' cytokine source book: Erythropoietin; URL="http://www.rndsystems.com/molecule_detail.aspx?m=1405"; Name=Wikipedia; Note=Erythropoietin entry; URL="http://en.wikipedia.org/wiki/Erythropoietin"; negative regulation of transcription from RNA polymerase II promoter response to hypoxia cytokine activity erythropoietin receptor binding hormone activity protein binding extracellular region extracellular space regulation of transcription from RNA polymerase II promoter apoptotic process acute-phase response signal transduction embryo implantation aging response to nutrient blood circulation cell proliferation positive regulation of cell proliferation response to salt stress cell surface negative regulation of calcium ion transport into cytosol positive regulation of neuron projection development positive regulation of phosphatidylinositol 3-kinase signaling peptidyl-serine phosphorylation erythrocyte differentiation protein kinase activator activity activation of protein kinase activity response to lipopolysaccharide negative regulation of myeloid cell apoptotic process response to vitamin A response to testosterone erythropoietin-mediated signaling pathway positive regulation of activated T cell proliferation positive regulation of tyrosine phosphorylation of STAT protein hemoglobin biosynthetic process negative regulation of apoptotic process erythrocyte maturation response to estrogen cell body positive regulation of neuron differentiation positive regulation of protein kinase activity positive regulation of transcription, DNA-templated positive regulation of Ras protein signal transduction response to axon injury response to electrical stimulus response to hyperoxia regulation of transcription from RNA polymerase II promoter in response to hypoxia positive regulation of ERK1 and ERK2 cascade response to interleukin-1 cellular hyperosmotic response response to dexamethasone negative regulation of neuron death negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress negative regulation of erythrocyte apoptotic process negative regulation of cation channel activity uc003uwi.1 uc003uwi.2 uc003uwi.3 uc003uwi.4 uc003uwi.5 uc003uwi.6 
ENST00000252729.7 CACNG6 ENST00000252729.7 Homo sapiens calcium voltage-gated channel auxiliary subunit gamma 6 (CACNG6), transcript variant 1, mRNA. (from RefSeq NM_145814) CCG6_HUMAN ENST00000252729.1 ENST00000252729.2 ENST00000252729.3 ENST00000252729.4 ENST00000252729.5 ENST00000252729.6 NM_145814 Q9BXT2 uc002qct.1 uc002qct.2 uc002qct.3 uc002qct.4 uc002qct.5 Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). Alternative splicing results in multiple transcript variants. Variants in this gene have been associated with aspirin-intolerant asthma. [provided by RefSeq, Dec 2010]. 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. Membrane; Multi-pass membrane protein (By similarity). Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. voltage-gated ion channel activity voltage-gated calcium channel activity calcium channel regulator activity calcium channel activity plasma membrane voltage-gated calcium channel complex ion transport calcium ion transport membrane integral component of membrane regulation of ion transmembrane transport cardiac conduction calcium ion transmembrane transport L-type voltage-gated calcium channel complex uc002qct.1 uc002qct.2 uc002qct.3 uc002qct.4 uc002qct.5 
ENST00000252744.6 ZSWIM6 ENST00000252744.6 Homo sapiens zinc finger SWIM-type containing 6 (ZSWIM6), mRNA. (from RefSeq NM_020928) ENST00000252744.1 ENST00000252744.2 ENST00000252744.3 ENST00000252744.4 ENST00000252744.5 KIAA1577 NM_020928 Q9HCJ5 ZSWM6_HUMAN uc003jsr.1 uc003jsr.2 uc003jsr.3 uc003jsr.4 uc003jsr.5 The protein encoded by this gene contains a zinc finger SWI2/SNF2 and MuDR (SWIM) domain. Proteins with SWIM domains have been found in a diverse number of species and are predicted to interact with DNA or proteins. Mutations in this gene result in acromelic frontonasal dysostosis. [provided by RefSeq, Apr 2017]. 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 orthologous and paralogous data. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology MANE Ensembl match :: ENST00000252744.6/ ENSP00000252744.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Contains 1 SWIM-type zinc finger. nervous system development zinc ion binding striatal medium spiny neuron differentiation Cul2-RING ubiquitin ligase complex metal ion binding regulation of axon guidance uc003jsr.1 uc003jsr.2 uc003jsr.3 uc003jsr.4 uc003jsr.5 
ENST00000252797.6 ZNF764 ENST00000252797.6 Homo sapiens zinc finger protein 764 (ZNF764), transcript variant 1, mRNA. (from RefSeq NM_033410) A8MZF4 ENST00000252797.1 ENST00000252797.2 ENST00000252797.3 ENST00000252797.4 ENST00000252797.5 NM_033410 Q96H86 Q9BWS1 ZN764_HUMAN uc002dyq.1 uc002dyq.2 uc002dyq.3 uc002dyq.4 May be involved in transcriptional regulation. Nucleus (Probable). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 7 C2H2-type zinc fingers. Contains 1 KRAB domain. nucleic acid binding DNA binding protein binding nucleus regulation of transcription, DNA-templated metal ion binding uc002dyq.1 uc002dyq.2 uc002dyq.3 uc002dyq.4 
ENST00000252804.9 PXDN ENST00000252804.9 Homo sapiens peroxidasin (PXDN), mRNA. (from RefSeq NM_012293) A8QM65 D6W4Y0 ENST00000252804.1 ENST00000252804.2 ENST00000252804.3 ENST00000252804.4 ENST00000252804.5 ENST00000252804.6 ENST00000252804.7 ENST00000252804.8 KIAA0230 MG50 NM_012293 PRG2 PXDN_HUMAN Q4KMG2 Q92626 VPO VPO1 uc002qxa.1 uc002qxa.2 uc002qxa.3 uc002qxa.4 uc002qxa.5 This gene encodes a heme-containing peroxidase that is secreted into the extracellular matrix. It is involved in extracellular matrix formation, and may function in the physiological and pathological fibrogenic response in fibrotic kidney. Mutations in this gene cause corneal opacification and other ocular anomalies, and also microphthalmia and anterior segment dysgenesis. [provided by RefSeq, Aug 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 :: AF200348.1, D86983.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252804.9/ ENSP00000252804.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Displays low peroxidase activity and is likely to participate in H(2)O(2) metabolism and peroxidative reactions in the cardiovascular system. Plays a role in extracellular matrix formation. 2 phenolic donor + H(2)O(2) = 2 phenoxyl radical of the donor + 2 H(2)O. Binds 1 calcium ion per subunit (By similarity). Binds 1 heme B (iron-protoporphyrin IX) group covalently per subunit. Kinetic parameters: KM=0.15 mM for H(2)O(2); Secreted, extracellular space, extracellular matrix. Note=Enriched in the peritubular space of fibrotic kidneys. Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms seem to exist; Name=1; IsoId=Q92626-1; Sequence=Displayed; Name=2; IsoId=Q92626-2; Sequence=VSP_031516, VSP_031517; Expressed at higher levels in heart, lung, ovary, spleen, intestine and placenta, and at lower levels in liver, colon, pancreas, kidney, thymus, skeletal muscle and prostate. Expressed in tumors such as melanoma, breast cancer, ovarian cancer and glioblastoma. A shorter form probably lacking the signal sequence is found in testis and in EB1 cells undergoing p53/TP53-dependent apoptosis. Expressed in fetal liver and spleen. By TGFB1 in fibroblasts and up-regulated in apoptotic cells. Belongs to the peroxidase family. XPO subfamily. Contains 4 Ig-like C2-type (immunoglobulin-like) domains. Contains 4 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. Contains 1 LRRNT domain. Contains 1 VWFC domain. Sequence=AAF06354.1; Type=Erroneous initiation; Sequence=BAA13219.1; Type=Erroneous initiation; negative regulation of cytokine-mediated signaling pathway peroxidase activity interleukin-1 receptor antagonist activity extracellular matrix structural constituent extracellular region extracellular space endoplasmic reticulum immune response response to oxidative stress oxidoreductase activity bromide peroxidase activity heme binding extracellular matrix organization collagen fibril organization hydrogen peroxide catabolic process metal ion binding oxidation-reduction process extracellular exosome basement membrane assembly cellular oxidant detoxification uc002qxa.1 uc002qxa.2 uc002qxa.3 uc002qxa.4 uc002qxa.5 
ENST00000252818.5 JUND ENST00000252818.5 Homo sapiens JunD proto-oncogene, AP-1 transcription factor subunit (JUND), transcript variant 1, mRNA. (from RefSeq NM_005354) ENST00000252818.1 ENST00000252818.2 ENST00000252818.3 ENST00000252818.4 JUND_HUMAN NM_005354 P17535 Q53EK9 uc002nip.1 uc002nip.2 uc002nip.3 uc002nip.4 uc002nip.5 The protein encoded by this intronless gene is a member of the JUN family, and a functional component of the AP1 transcription factor complex. This protein has been proposed to protect cells from p53-dependent senescence and apoptosis. Alternative translation initiation site usage results in the production of different isoforms (PMID:12105216). [provided by RefSeq, Nov 2013]. Transcription factor binding AP-1 sites. Binds DNA as a dimer (By similarity). Interacts with MEN1; this interaction represses transcriptional activation. P61158:ACTR3; NbExp=2; IntAct=EBI-2682803, EBI-351428; P01100:FOS; NbExp=3; IntAct=EBI-2682803, EBI-852851; Q00987:MDM2; NbExp=3; IntAct=EBI-2682803, EBI-389668; Nucleus. Belongs to the bZIP family. Jun subfamily. Contains 1 bZIP (basic-leucine zipper) domain. Sequence=CAA40010.1; Type=Frameshift; Positions=Several; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/tnfrsf1b/"; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/JUNDID179.html"; negative regulation of transcription from RNA polymerase II promoter chromatin 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 osteoblast development DNA binding double-stranded DNA binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity protein binding nucleus nucleoplasm transcription factor complex regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter aging circadian rhythm transcription factor binding response to radiation response to light stimulus response to mechanical stimulus response to organic substance response to organic cyclic compound ligand-dependent nuclear receptor binding enzyme binding response to lipopolysaccharide cellular response to hormone stimulus macromolecular complex protein-DNA complex response to cytokine transcription factor AP-1 complex response to drug response to peptide hormone sequence-specific DNA binding transcription regulatory region DNA binding positive regulation of cell differentiation positive regulation of osteoblast differentiation positive regulation of transcription from RNA polymerase II promoter response to cAMP regulation of cell cycle cellular response to calcium ion uc002nip.1 uc002nip.2 uc002nip.3 uc002nip.4 uc002nip.5 
ENST00000252825.9 HRC ENST00000252825.9 Homo sapiens histidine rich calcium binding protein (HRC), mRNA. (from RefSeq NM_002152) ENST00000252825.1 ENST00000252825.2 ENST00000252825.3 ENST00000252825.4 ENST00000252825.5 ENST00000252825.6 ENST00000252825.7 ENST00000252825.8 HCP NM_002152 P23327 Q504Y6 SRCH_HUMAN uc002pmv.1 uc002pmv.2 uc002pmv.3 uc002pmv.4 uc002pmv.5 This gene encodes a luminal sarcoplasmic reticulum protein identified by its ability to bind low-density lipoprotein with high affinity. The protein interacts with the cytoplasmic domain of triadin, the main transmembrane protein of the junctional sarcoplasmic reticulum (SR) of skeletal muscle. The protein functions in the regulation of releasable calcium into the SR. [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 :: BC094691.1, M60052.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968189, SAMEA1968540 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252825.9/ ENSP00000252825.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## May play a role in the regulation of calcium sequestration or release in the SR of skeletal and cardiac muscle. Sarcoplasmic reticulum lumen. To rabbit HRC. regulation of heart rate calcium ion binding protein binding endoplasmic reticulum lumen muscle contraction positive regulation of heart rate regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion sarcoplasmic reticulum Z disc sarcoplasmic reticulum lumen regulation of peptidyl-serine phosphorylation post-translational protein modification cellular protein metabolic process ion channel binding positive regulation of heart contraction ATPase binding regulation of cytosolic calcium ion concentration regulation of ryanodine-sensitive calcium-release channel activity regulation of cell communication by electrical coupling involved in cardiac conduction positive regulation of relaxation of cardiac muscle regulation of calcium ion transmembrane transport uc002pmv.1 uc002pmv.2 uc002pmv.3 uc002pmv.4 uc002pmv.5 
ENST00000252826.10 TRPM4 ENST00000252826.10 Homo sapiens transient receptor potential cation channel subfamily M member 4 (TRPM4), transcript variant 1, mRNA. (from RefSeq NM_017636) A2RU25 ENST00000252826.1 ENST00000252826.2 ENST00000252826.3 ENST00000252826.4 ENST00000252826.5 ENST00000252826.6 ENST00000252826.7 ENST00000252826.8 ENST00000252826.9 LTRPC4 NM_017636 Q7Z5D9 Q8TD43 Q96L84 Q9NXV1 TRPM4_HUMAN uc002pmw.1 uc002pmw.2 uc002pmw.3 uc002pmw.4 uc002pmw.5 The protein encoded by this gene is a calcium-activated nonselective ion channel that mediates transport of monovalent cations across membranes, thereby depolarizing the membrane. The activity of the encoded protein increases with increasing intracellular calcium concentration, but this channel does not transport calcium. [provided by RefSeq, Mar 2016]. Calcium-activated non selective (CAN) cation channel that mediates membrane depolarization. While it is activated by increase in intracellular Ca(2+), it is impermeable to it. Mediates transport of monovalent cations (Na(+) > K(+) > Cs(+) > Li(+)), leading to depolarize the membrane. It thereby plays a central role in cadiomyocytes, neurons from entorhinal cortex, dorsal root and vomeronasal neurons, endocrine pancreas cells, kidney epithelial cells, cochlea hair cells etc. Participates in T-cell activation by modulating Ca(2+) oscillations after T lymphocyte activation, which is required for NFAT-dependent IL2 production. Involved in myogenic constriction of cerebral arteries. Controls insulin secretion in pancreatic beta-cells. May also be involved in pacemaking or could cause irregular electrical activity under conditions of Ca(2+) overload. Affects T-helper 1 (Th1) and T-helper 2 (Th2) cell motility and cytokine production through differential regulation of calcium signaling and NFATC1 localization. Enhances cell proliferation through up-regulation of the beta-catenin signaling pathway. Gating is voltage-dependent and repressed by decavanadate. Calmodulin-binding confers the Ca(2+) sensitivity. ATP is able to restore Ca(2+) sensitivity after desensitization. Phosphatidylinositol 4,5-bisphosphate (PIP2)-binding strongly enhances activity, by increasing the channel's Ca(2+) sensitivity and shifting its voltage dependence of activation towards negative potentials. Activity is also enhanced by 3,5- bis(trifluoromethyl)pyrazole derivative (BTP2). Homomultimer. Isoform 1: Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum. Golgi apparatus. Isoform 2: Endoplasmic reticulum. Golgi apparatus. Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=TRPM4b; IsoId=Q8TD43-1; Sequence=Displayed; Name=2; Synonyms=TRPM4a; IsoId=Q8TD43-2; Sequence=VSP_021442; Name=3; Synonyms=TRPM4c; IsoId=Q8TD43-3; Sequence=VSP_021443; Widely expressed with a high expression in intestine and prostate. In brain, it is both expressed in whole cerebral arteries and isolated vascular smooth muscle cells. Prominently expressed in Purkinje fibers. Expressed at higher levels in T-helper 2 (Th2) cells as compared to T-helper 1 (Th1) cells. Phosphorylation by PKC leads to increase the sensitivity to Ca(2+). Sumoylated. Desumoylated by SENP1. Defects in TRPM4 are the cause of progressive familial heart block type 1B (PFHB1B) [MIM:604559]. It is a cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrioventricular block causing syncope and sudden death. Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM4 sub-subfamily. Sequence=BAA90907.1; Type=Erroneous termination; Positions=1191; Note=Translated as Glu; nucleotide binding adaptive immune response immune system process dendritic cell chemotaxis regulation of T cell cytokine production ion channel activity calcium activated cation channel activity calcium channel activity calcium ion binding calmodulin binding ATP binding nucleoplasm endoplasmic reticulum Golgi apparatus cytosol plasma membrane ion transport cation transport calcium ion transport positive regulation of cytosolic calcium ion concentration positive regulation of cell proliferation positive regulation of heart rate membrane integral component of membrane protein sumoylation calcium-mediated signaling negative regulation of bone mineralization ion transmembrane transport sodium channel complex positive regulation of insulin secretion involved in cellular response to glucose stimulus vasoconstriction regulation of membrane potential neuronal cell body spanning component of plasma membrane positive regulation of fat cell differentiation negative regulation of osteoblast differentiation positive regulation of vasoconstriction metal ion binding protein homotetramerization transmembrane transport cardiac conduction calcium ion transmembrane transport cellular response to ATP membrane depolarization during AV node cell action potential membrane depolarization during Purkinje myocyte cell action potential membrane depolarization during bundle of His cell action potential regulation of heart rate by cardiac conduction spanning component of membrane positive regulation of canonical Wnt signaling pathway inorganic cation transmembrane transport sodium ion import across plasma membrane regulation of ventricular cardiac muscle cell action potential positive regulation of atrial cardiac muscle cell action potential positive regulation of adipose tissue development positive regulation of regulation of vascular smooth muscle cell membrane depolarization uc002pmw.1 uc002pmw.2 uc002pmw.3 uc002pmw.4 uc002pmw.5 
ENST00000252840.11 ZNF557 ENST00000252840.11 Homo sapiens zinc finger protein 557 (ZNF557), transcript variant 1, mRNA. (from RefSeq NM_024341) ENST00000252840.1 ENST00000252840.10 ENST00000252840.2 ENST00000252840.3 ENST00000252840.4 ENST00000252840.5 ENST00000252840.6 ENST00000252840.7 ENST00000252840.8 ENST00000252840.9 NM_024341 Q6PEJ3 Q8N988 Q9BTZ1 ZN557_HUMAN uc002mga.1 uc002mga.2 uc002mga.3 uc002mga.4 uc002mga.5 May be involved in transcriptional regulation. Nucleus (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8N988-1; Sequence=Displayed; Name=2; IsoId=Q8N988-2; Sequence=VSP_014515; Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 10 C2H2-type zinc fingers. Contains 1 KRAB domain. Sequence=AAH58040.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAC04567.1; Type=Frameshift; Positions=23; nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated sequence-specific DNA binding metal ion binding uc002mga.1 uc002mga.2 uc002mga.3 uc002mga.4 uc002mga.5 
ENST00000252891.8 NUMBL ENST00000252891.8 Homo sapiens NUMB like endocytic adaptor protein (NUMBL), transcript variant 1, mRNA. (from RefSeq NM_004756) ENST00000252891.1 ENST00000252891.2 ENST00000252891.3 ENST00000252891.4 ENST00000252891.5 ENST00000252891.6 ENST00000252891.7 NM_004756 NUMBL_HUMAN Q7Z4J9 Q9Y6R0 uc002oon.1 uc002oon.2 uc002oon.3 uc002oon.4 uc002oon.5 Plays a role in the process of neurogenesis. Required throughout embryonic neurogenesis to maintain neural progenitor cells, also called radial glial cells (RGCs), by allowing their daughter cells to choose progenitor over neuronal cell fate. Not required for the proliferation of neural progenitor cells before the onset of embryonic neurogenesis. Also required postnatally in the subventricular zone (SVZ) neurogenesis by regulating SVZ neuroblasts survival and ependymal wall integrity. Negative regulator of NF-kappa-B signaling pathway. The inhibition of NF- kappa-B activation is mediated at least in part, by preventing MAP3K7IP2 to interact with polyubiquitin chains of TRAF6 and RIPK1 and by stimulating the 'Lys-48'-linked polyubiquitination and degradation of TRAF6 in cortical neurons. Interacts (via PTB domain) with MAP3K7IP2 (via C- terminal). Interacts (via C-terminal) with TRAF6 (via TRAF domains). Associates with EPS15 and NOTCH1. Q9NWB1:RBFOX1; NbExp=2; IntAct=EBI-945925, EBI-945906; Cytoplasm (By similarity). Note=Symmetrically distributed throughout the cytoplasm in non dividing neuroblasts of the CNS (By similarity). The PTB domain is necessary for the inhibition of MAP3K7IP2-mediated activation of NF-kappa-B. Contains 1 PID domain. protein binding cytoplasm multicellular organism development nervous system development neuroblast proliferation axonogenesis cytokine-mediated signaling pathway protein metabolic process lateral ventricle development neuroblast division in subventricular zone forebrain development adherens junction organization cadherin binding positive regulation of neurogenesis uc002oon.1 uc002oon.2 uc002oon.3 uc002oon.4 uc002oon.5 
ENST00000252934.10 ATXN10 ENST00000252934.10 Homo sapiens ataxin 10 (ATXN10), transcript variant 1, mRNA. (from RefSeq NM_013236) A6NLC4 ATX10_HUMAN B4DG05 ENST00000252934.1 ENST00000252934.2 ENST00000252934.3 ENST00000252934.4 ENST00000252934.5 ENST00000252934.6 ENST00000252934.7 ENST00000252934.8 ENST00000252934.9 NM_013236 O14998 O15009 Q6I9X4 Q9UBB4 SCA10 uc003bgm.1 uc003bgm.2 uc003bgm.3 uc003bgm.4 This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to 800-4500 copies in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jul 2016]. Necessary for the survival of cerebellar neurons (By similarity). Induces neuritogenesis by activating the Ras-MAP kinase pathway (By similarity). May play a role in the maintenance of a critical intracellular glycosylation level and homeostasis (By similarity). Homooligomer (By similarity). Interacts with OGT (By similarity). Interacts with GNB2. Interacts with IQCB1. Cytoplasm, perinuclear region. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UBB4-1; Sequence=Displayed; Name=2; IsoId=Q9UBB4-2; Sequence=VSP_042526; Note=No experimental confirmation available; Expressed in the central nervous system. Defects in ATXN10 are the cause of spinocerebellar ataxia type 10 (SCA10) [MIM:603516]. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA10 is an autosomal dominant cerebellar ataxia (ADCA). Note=Defects in ATXN1 may be a cause of nephronophthisis a chronic tubulo-interstitial nephropathy taht leads to anemia, polyuria, polydipsia, isosthenuria and death in uremia. Belongs to the ataxin-10 family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATXN10"; protein binding extracellular space cytoplasm cytosol plasma membrane nervous system development membrane enzyme binding dendrite neuron projection development identical protein binding neuronal cell body perinuclear region of cytoplasm cilium assembly protein homotrimerization uc003bgm.1 uc003bgm.2 uc003bgm.3 uc003bgm.4 
ENST00000252939.9 CALY ENST00000252939.9 Homo sapiens calcyon neuron specific vesicular protein (CALY), transcript variant 1, mRNA. (from RefSeq NM_015722) CALY_HUMAN DRD1IP ENST00000252939.1 ENST00000252939.2 ENST00000252939.3 ENST00000252939.4 ENST00000252939.5 ENST00000252939.6 ENST00000252939.7 ENST00000252939.8 NM_015722 Q5VWX3 Q5VWY5 Q5VWY6 Q9NYX4 uc001lmo.1 uc001lmo.2 uc001lmo.3 uc001lmo.4 The protein encoded by this gene is a type II single transmembrane protein. It is required for maximal stimulated calcium release after stimulation of purinergic or muscarinic but not beta-adrenergic receptors. The encoded protein interacts with D1 dopamine receptor and may interact with other DA receptor subtypes and/or GPCRs. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AL538220.3, AF225903.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2146411 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252939.9/ ENSP00000252939.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Interacts with clathrin light chain A and stimulates clathrin self-assembly and clathrin-mediated endocytosis. Interacts with CLTA. Cytoplasmic vesicle membrane; Single-pass membrane protein. Cell membrane; Single-pass membrane protein. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NYX4-1; Sequence=Displayed; Name=2; IsoId=Q9NYX4-2; Sequence=VSP_034474, VSP_034475; Note=Gene prediction based on EST data; Name=3; IsoId=Q9NYX4-3; Sequence=VSP_034473; Note=Gene prediction based on EST data; Expressed in the pyramidal cells of the prefrontal cortex, in hippothalamus and in caudate nucleus. No expression in spleen. Up-regulated in the prefrontal cortex of schizophrenic patients with nearly twice the levels of non- schizophrenics. Glycosylated (Probable). Belongs to the NSG family. Was originally (PubMed:10698743) thought to interact with the D1 dopamine receptor (DRD1) and to play a role in potentiating calcium ion-dependent signaling but this work was later retracted. protein binding endosome plasma membrane integral component of plasma membrane endocytosis dopamine receptor signaling pathway membrane integral component of membrane endosomal transport cytoplasmic vesicle membrane cytoplasmic vesicle clathrin light chain binding macromolecular complex binding positive regulation of endocytosis clathrin coat assembly postsynaptic endocytic zone postsynaptic neurotransmitter receptor internalization glutamatergic synapse uc001lmo.1 uc001lmo.2 uc001lmo.3 uc001lmo.4 
ENST00000252951.3 HBZ ENST00000252951.3 Homo sapiens hemoglobin subunit zeta (HBZ), mRNA. (from RefSeq NM_005332) ENST00000252951.1 ENST00000252951.2 HBAZ_HUMAN HBZ2 NM_005332 P02008 Q6IBF6 uc002cft.1 uc002cft.2 uc002cft.3 Zeta-globin is an alpha-like hemoglobin. The zeta-globin polypeptide is synthesized in the yolk sac of the early embryo, while alpha-globin is produced throughout fetal and adult life. The zeta-globin gene is a member of the human alpha-globin gene cluster that includes five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 -alpha-1 - theta1 - 3'. [provided by RefSeq, Nov 2009]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BX102376.1, BC027892.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2142853 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252951.3/ ENSP00000252951.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## The zeta chain is an alpha-type chain of mammalian embryonic hemoglobin, synthesized primarily in the yolk sac. Heterotetramer of two zeta chains and two epsilon chains in early embryonic hemoglobin Gower-1; two zeta chains and two gamma chains in hemoglobin Portland-1. Red blood cells. Belongs to the globin family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HBZ"; negative regulation of transcription from RNA polymerase II promoter 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 erythrocyte maturation metal ion binding extracellular exosome cellular oxidant detoxification peroxidase activity haptoglobin binding uc002cft.1 uc002cft.2 uc002cft.3 
ENST00000252979.6 ZNF337 ENST00000252979.6 Homo sapiens zinc finger protein 337 (ZNF337), transcript variant 2, mRNA. (from RefSeq NM_015655) ENST00000252979.1 ENST00000252979.2 ENST00000252979.3 ENST00000252979.4 ENST00000252979.5 NM_015655 Q9Y3M9 Q9Y3Y5 ZN337_HUMAN uc002wvc.1 uc002wvc.2 uc002wvc.3 uc002wvc.4 uc002wvc.5 This gene encodes a zinc finger domain containing protein. The function of this protein has yet to be determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. May be involved in transcriptional regulation. Nucleus (Probable). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 20 C2H2-type zinc fingers. Contains 1 KRAB domain. nucleic acid binding DNA binding protein binding nucleus regulation of transcription, DNA-templated metal ion binding uc002wvc.1 uc002wvc.2 uc002wvc.3 uc002wvc.4 uc002wvc.5 
ENST00000252992.8 CEP85 ENST00000252992.8 Homo sapiens centrosomal protein 85 (CEP85), transcript variant 1, mRNA. (from RefSeq NM_022778) CCDC21 CEP85_HUMAN D3DPK4 ENST00000252992.1 ENST00000252992.2 ENST00000252992.3 ENST00000252992.4 ENST00000252992.5 ENST00000252992.6 ENST00000252992.7 NM_022778 Q5VY68 Q5VY70 Q6P2H3 Q9H6Q1 Q9H828 Q9UF52 uc001bls.1 uc001bls.2 uc001bls.3 This gene encodes a protein that belongs to the centrosome-associated family of proteins. The centrosome is a subcellular organelle in the animal cell that functions as a microtubule organizing center and is involved in cell-cycle progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. Cytoplasm, cytoskeleton, centrosome. Cytoplasm, cytoskeleton, spindle pole. Nucleus, nucleolus. Note=Localizes to centrosomes and nucleolus in interphase. Upon entry into mitosis, relocates from nucleolus and accumulates at spindle poles. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q6P2H3-1; Sequence=Displayed; Name=2; IsoId=Q6P2H3-2; Sequence=VSP_018147; Name=3; IsoId=Q6P2H3-3; Sequence=VSP_026435; Belongs to the CEP85 family. Sequence=BAB15203.1; Type=Erroneous initiation; Sequence=CAH71541.2; Type=Erroneous gene model prediction; Sequence=CAI15849.2; Type=Erroneous gene model prediction; pericentriolar material spindle pole protein binding nucleus nucleolus cytoplasm mitochondrion Golgi apparatus centrosome microtubule organizing center cytosol cytoskeleton negative regulation of protein kinase activity chromosome segregation regulation of mitotic centrosome separation uc001bls.1 uc001bls.2 uc001bls.3 
ENST00000252996.9 TAF4 ENST00000252996.9 Homo sapiens TATA-box binding protein associated factor 4 (TAF4), mRNA. (from RefSeq NM_003185) A6NGD9 ENST00000252996.1 ENST00000252996.2 ENST00000252996.3 ENST00000252996.4 ENST00000252996.5 ENST00000252996.6 ENST00000252996.7 ENST00000252996.8 NM_003185 O00268 Q5TBP6 Q99721 Q9BR40 Q9BX42 TAF2C TAF2C1 TAF4A TAF4_HUMAN TAFII130 TAFII135 uc002ybs.1 uc002ybs.2 uc002ybs.3 uc002ybs.4 Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: Y11354.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Makes part of TFIID is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. Potentiates transcriptional activation by the AF-2S of the retinoic acid, vitamin D3 and thyroid hormone. TFIID is composed of TATA binding protein (TBP) and a number of TBP-associated factors (TAFs). Component of the TFTC-HAT complex, at least composed of TAF5L, TAF6L, TADA3L, SUPT3H, TAF2, TAF4, TAF5, GCN5L2/GCN5, TAF10 and TRRAP. Component of some MLL1/MLL complex, at least composed of the core components MLL, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components C17orf49, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, MYST1/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts with ATF7; the interaction inhibits ATF7- mediated tranactivation. Interacts with SV40 Large T antigen. Nucleus. Belongs to the TAF4 family. Contains 1 TAFH (NHR1) domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/taf4/"; nuclear chromatin ovarian follicle development DNA binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity protein binding nucleus nucleoplasm transcription factor TFIID complex cytosol DNA-templated transcription, initiation regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter transcription factor binding viral process aryl hydrocarbon receptor binding macromolecular complex transcription factor TFTC complex positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity MLL1 complex regulation of signal transduction by p53 class mediator uc002ybs.1 uc002ybs.2 uc002ybs.3 uc002ybs.4 
ENST00000252997.3 GATA5 ENST00000252997.3 Homo sapiens GATA binding protein 5 (GATA5), mRNA. (from RefSeq NM_080473) ENST00000252997.1 ENST00000252997.2 GATA5_HUMAN NM_080473 Q17RE2 Q9BWX5 uc002ycx.1 uc002ycx.2 The protein encoded by this gene is a transcription factor that contains two GATA-type zinc fingers. The encoded protein is known to bind to hepatocyte nuclear factor-1alpha (HNF-1alpha), and this interaction is essential for cooperative activation of the intestinal lactase-phlorizin hydrolase promoter. In other organisms, similar proteins may be involved in the establishment of cardiac smooth muscle cell diversity. [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 :: BC047790.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968189, SAMEA1968540 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252997.3/ ENSP00000252997.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Binds to the functionally important CEF-1 nuclear protein binding site in the cardiac-specific slow/cardiac troponin C transcriptional enhancer. May play an important role in the transcriptional program(s) that underlies smooth muscle cell diversity (By similarity). Nucleus (By similarity). Note=Rare variants in GATA5 may be a cause of susceptibility to atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. Contains 2 GATA-type zinc fingers. nuclear chromatin 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 aortic valve morphogenesis endocardial cushion fusion DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated blood coagulation zinc ion binding negative regulation of cardiac muscle hypertrophy positive regulation of gene expression negative regulation of gene expression positive regulation of Notch signaling pathway involved in heart induction sequence-specific DNA binding transcription regulatory region DNA binding positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding cardiac muscle tissue development intestinal epithelial cell differentiation cellular response to BMP stimulus positive regulation of transcription from RNA polymerase II promoter involved in heart development uc002ycx.1 uc002ycx.2 
ENST00000252998.2 RBBP8NL ENST00000252998.2 Homo sapiens RBBP8 N-terminal like (RBBP8NL), mRNA. (from RefSeq NM_080833) B2RP98 C20orf151 CT151_HUMAN ENST00000252998.1 NM_080833 Q8N4Z9 Q8NC74 Q9BR75 Q9H0Y9 uc002ycw.1 uc002ycw.2 uc002ycw.3 uc002ycw.4 extracellular space uc002ycw.1 uc002ycw.2 uc002ycw.3 uc002ycw.4 
ENST00000252999.7 LAMA5 ENST00000252999.7 Homo sapiens laminin subunit alpha 5 (LAMA5), mRNA. (from RefSeq NM_005560) ENST00000252999.1 ENST00000252999.2 ENST00000252999.3 ENST00000252999.4 ENST00000252999.5 ENST00000252999.6 KIAA0533 KIAA1907 LAMA5_HUMAN NM_005560 O15230 Q8TDF8 Q8WZA7 Q9H1P1 uc002ycq.1 uc002ycq.2 uc002ycq.3 uc002ycq.4 uc002ycq.5 This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF443072.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252999.7/ ENSP00000252999.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Alpha-5 is a subunit of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component. Expressed in heart, lung, kidney, skeletal muscle, pancreas, retina and placenta. Little or no expression in brain and liver. Domain G is globular and is part of the major cell-binding site located in the long arm of the laminin heterotrimer. Contains 22 laminin EGF-like domains. Contains 5 laminin G-like domains. Contains 1 laminin IV type A domain. Contains 1 laminin N-terminal domain. Sequence=CAC22310.1; Type=Erroneous gene model prediction; angiogenesis branching involved in ureteric bud morphogenesis morphogenesis of a polarized epithelium neural crest cell migration hair follicle development receptor binding integrin binding extracellular matrix structural constituent extracellular region basement membrane laminin-5 complex extracellular space nucleus cytoskeleton organization cell adhesion integrin-mediated signaling pathway muscle organ development cell recognition cell proliferation animal organ morphogenesis tissue development morphogenesis of embryonic epithelium cell migration cytokine-mediated signaling pathway cell differentiation regulation of cell adhesion extracellular matrix organization lung development regulation of cell migration extracellular matrix neuromuscular junction substrate adhesion-dependent cell spreading regulation of cell proliferation odontogenesis of dentin-containing tooth synaptic cleft laminin-10 complex laminin-11 complex endothelial cell differentiation regulation of embryonic development focal adhesion assembly branching morphogenesis of an epithelial tube cilium assembly branching involved in salivary gland morphogenesis extracellular exosome protein localization to plasma membrane cell-cell adhesion uc002ycq.1 uc002ycq.2 uc002ycq.3 uc002ycq.4 uc002ycq.5 
ENST00000253008.3 PRDM12 ENST00000253008.3 Homo sapiens PR/SET domain 12 (PRDM12), mRNA. (from RefSeq NM_021619) A3KFK9 ENST00000253008.1 ENST00000253008.2 NM_021619 PFM9 PRD12_HUMAN Q9H4Q4 uc004bzt.1 uc004bzt.2 uc004bzt.3 This gene encodes a transcriptional regulator of sensory neuronal specification that plays a critical role in pain perception. The encoded protein contains an N-terminal PRDI-BF1 and RIZ homology (PR) domain, a SET domain, and three C-terminal C2H2 zinc finger DNA-binding domains. Naturally occurring mutations in this gene are associated with congenital insensitivity to pain (CIP), and hereditary sensory and autonomic neuropathies (HSAN's) affecting peripheral sensory and autonomic neurons. Deregulation of this gene is associated with solid cancers and hematological malignancies including chronic myeloid leukaemia. [provided by RefSeq, Mar 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 :: AY004252.2 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000253008.3/ ENSP00000253008.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May be involved in transcriptional regulation. Nucleus (Potential). Contains 3 C2H2-type zinc fingers. Contains 1 SET domain. RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter methyltransferase activity transferase activity sensory perception of pain neurogenesis neuron projection development chromatin DNA binding methylation sequence-specific DNA binding metal ion binding detection of temperature stimulus involved in sensory perception of pain positive regulation of histone H3-K9 methylation positive regulation of histone H3-K9 dimethylation histone methyltransferase binding uc004bzt.1 uc004bzt.2 uc004bzt.3 
ENST00000253023.8 UBE2M ENST00000253023.8 Homo sapiens ubiquitin conjugating enzyme E2 M (UBE2M), mRNA. (from RefSeq NM_003969) ENST00000253023.1 ENST00000253023.2 ENST00000253023.3 ENST00000253023.4 ENST00000253023.5 ENST00000253023.6 ENST00000253023.7 NM_003969 O76069 P61081 Q8VC50 UBC12 UBC12_HUMAN uc002qtl.1 uc002qtl.2 uc002qtl.3 uc002qtl.4 uc002qtl.5 uc002qtl.6 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is linked with a ubiquitin-like protein, NEDD8, which can be conjugated to cellular proteins, such as Cdc53/culin. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.204094.1, SRR1163658.422502.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142670, SAMEA2142853 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000253023.8/ ENSP00000253023.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Accepts the ubiquitin-like protein NEDD8 from the UBA3- NAE1 E1 complex and catalyzes its covalent attachment to other proteins. The specific interaction with the E3 ubiquitin ligase RBX1, but not RBX2, suggests that the RBX1-UBE2M complex neddylates specific target proteins, such as CUL1, CUL2, CUL3 and CUL4. Involved in cell proliferation. ATP + NEDD8 + protein lysine = AMP + diphosphate + protein N-NEDD8yllysine. Protein modification; protein neddylation. Interacts with UBA3, DCUN1D1 and RBX1. Q8TBC4:UBA3; NbExp=2; IntAct=EBI-1041660, EBI-717567; Both the N-terminal docking peptide and the catalytic core domain must bind the UBA3-NAE1 complex simultaneously for optimal transfer of NEDD8. The acetylation of Met-1 is cotranslational, and not regulatory. The N-acetylmethionine increases affinity for DCUN1D1 by about 2 orders of magnitude and is crucial for NEDD8 transfer to cullins. Belongs to the ubiquitin-conjugating enzyme family. UBC12 subfamily. nucleotide binding ubiquitin-protein transferase activity protein binding ATP binding nucleoplasm cytosol cellular protein modification process protein ubiquitination transferase activity NEDD8 transferase activity positive regulation of neuron apoptotic process post-translational protein modification protein neddylation uc002qtl.1 uc002qtl.2 uc002qtl.3 uc002qtl.4 uc002qtl.5 uc002qtl.6 
ENST00000253024.10 TRIM28 ENST00000253024.10 Homo sapiens tripartite motif containing 28 (TRIM28), mRNA. (from RefSeq NM_005762) ENST00000253024.1 ENST00000253024.2 ENST00000253024.3 ENST00000253024.4 ENST00000253024.5 ENST00000253024.6 ENST00000253024.7 ENST00000253024.8 ENST00000253024.9 KAP1 NM_005762 O00677 Q13263 Q7Z632 Q93040 Q96IM1 RNF96 TIF1B TIF1B_HUMAN uc002qtg.1 uc002qtg.2 uc002qtg.3 The protein encoded by this gene mediates transcriptional control by interaction with the Kruppel-associated box repression domain found in many transcription factors. The protein localizes to the nucleus and is thought to associate with specific chromatin regions. The protein is a member of the tripartite motif family. This tripartite motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil 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 :: BC004978.1, SRR1163658.177162.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000253024.10/ ENSP00000253024.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Nuclear corepressor for KRAB domain-containing zinc finger proteins (KRAB-ZFPs). Mediates gene silencing by recruiting CHD3, a subunit of the nucleosome remodeling and deacetylation (NuRD) complex, and SETDB1 (which specifically methylates histone H3 at 'Lys-9' (H3K9me)) to the promoter regions of KRAB target genes. Enhances transcriptional repression by coordinating the increase in H3K9me, the decrease in histone H3 'Lys-9 and 'Lys-14' acetylation (H3K9ac and H3K14ac, respectively) and the disposition of HP1 proteins to silence gene expression. Recruitment of SETDB1 induces heterochromatinization. May play a role as a coactivator for CEBPB and NR3C1 in the transcriptional activation of ORM1. Also corepressor for ERBB4. Inhibits E2F1 activity by stimulating E2F1-HDAC1 complex formation and inhibiting E2F1 acetylation. May serve as a partial backup to prevent E2F1-mediated apoptosis in the absence of RB1. Important regulator of CDKN1A/p21(CIP1). Has E3 SUMO-protein ligase activity toward itself via its PHD-type zinc finger. Also specifically sumoylates IRF7, thereby inhibiting its transactivation activity. Ubiquitinates p53/TP53 leading to its proteosomal degradation; the function is enhanced by MAGEC2 and MAGEA2, and possibly MAGEA3 and MAGEA6. Protein modification; protein sumoylation. Oligomer; the RBCC domain homotrimerizes and interacts with one molecule of KRAB to form the KRAB-KAP1 corepressor complex. Binding to a KRAB domain is an absolute requirement for silencing gene expression. Interacts with CEBPB and NR3C1 (By similarity). Interacts with a number of KRAB-ZFP proteins including ZNF10, ZFP53, ZFP68, ZNF382 and ZNF256. Interacts with NCOR1, NR3C1 and CHD3. Interacts with CEBPB (via the RING-type and PHD-type zinc fingers). Component of a ternary complex that includes TRIM28, a HP1 protein (CBX1, CBX3 OR CBX5), a KRAB domain-containing protein, and DNA. Interacts with CBX5 (via the PxVxL motif); the interaction occurs in interphase nuclei and competes for binding POGZ. Interacts with POGZ; the interaction competes for interaction with CBX5. Interacts with SETDB1; the interaction is enhanced by KAP1 sumoylation, stimulates SETB1 histone methyltransferase activity and gene silencing. Interacts (via the PHD-type zinc finger) with UBE2I; the interaction is required for sumoylation and repressor activity. Component of the TRIM28/KAP1-ERBB4-MDM2 complex involved in connecting growth factor and DNA damage responses. Interacts directly with ERBB4; the interaction represses ERBB4-mediated transcription activity. Interacts with MDM2; the interaction contributes to p53/TP53 inactivation. Component of the TRIM28/KAP1-MDM2-p53/TP53; involved in regulating p53/TP53 stabilization and activity. Interacts (via the leucine zipper alpha helical coiled-coil) with E2F1 (central region); the interaction inhibits E2F1 acetylation and transcriptional activity. Interacts with PPP1CA; the interaction dephosphorylates TRIM28 at Ser-824 and forms a complex at the p21 promoter site. Interacts with PPP1CB; the interaction is weak but is increased on dephosphorylation at Ser-824. Interacts with FES/FPS. Interacts with SMARCAD1. Interacts with, and sumoylates IRF7. Interacts with MAGEC2. Part of a complex composed of TRIM28, HDAC1, HDAC2 and EHMT2. Q13185:CBX3; NbExp=3; IntAct=EBI-78139, EBI-78176; P23198:Cbx3 (xeno); NbExp=2; IntAct=EBI-78139, EBI-78162; P45973:CBX5; NbExp=7; IntAct=EBI-78139, EBI-78219; P43356:MAGEA2B; NbExp=6; IntAct=EBI-78139, EBI-5650739; P43357:MAGEA3; NbExp=3; IntAct=EBI-78139, EBI-5651459; P43360:MAGEA6; NbExp=2; IntAct=EBI-78139, EBI-1045155; Q9UBF1:MAGEC2; NbExp=14; IntAct=EBI-78139, EBI-5651487; Q9HCI5:MAGEE1; NbExp=2; IntAct=EBI-78139, EBI-949966; O75376:NCOR1; NbExp=4; IntAct=EBI-78139, EBI-347233; Nucleus. Note=Associated with centromeric heterochromatin during cell differentiation through CBX1 (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q13263-1; Sequence=Displayed; Name=2; IsoId=Q13263-2; Sequence=VSP_010898; Note=No experimental confirmation available; Expressed in all tissues tested including spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocytes. The HP1 box is both necessary and sufficient for HP1 binding. The PHD-type zinc finger enhances CEBPB transcriptional activity. The PHD-type zinc finger, the HP1 box and the bromo domain, function together to assemble the machinery required for repression of KRAB domain-containing proteins. Acts as an intramolecular SUMO E3 ligase for autosumoylation of bromodomain. The RING-finger-B Box-coiled-coil/tripartite motif (RBCC/TRIM motif) is required for interaction with the KRAB domain of KRAB-zinc finger proteins. Binds four zinc ions per molecule. The RING finger and the N-terminal of the leucine zipper alpha helical coiled-coil region of RBCC are required for oligomerization. Contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is required for interaction with chromoshadow domains. This motif requires additional residues -7, -6, +4 and +5 of the central Val which contact the chromoshadow domain. Phosphorylated upon DNA damage, probably by ATM or ATR. ATM- induced phosphorylation on Ser-824 represses sumoylation leading to the de-repression of expression of a subset of genes involved in cell cycle control and apoptosis in response to genotoxic stress. Dephosphorylation by the phosphatases, PPP1CA and PP1CB forms, allows sumoylation and expression of TRIM28 target genes. Sumoylation/desumoylation events regulate TRIM28-mediated transcriptional repression. Sumoylation is required for interaction with CHD3 and SETDB1 and the corepressor activity. Represses and is repressed by Ser-824 phosphorylation. Enhances the TRIM28 corepressor activity, inhibiting transcriptional activity of a number of genes including GADD45A and CDKN1A/p21. Lys-554, Lys-779 and Lys-804 are the major sites of sumoylation. In response to Dox-induced DNA damage, enhanced phosphorylation on Ser-824 prevents sumoylation and allows de-repression of CDKN1A/p21. Auto-ubiquitinated; enhanced by MAGEA2 and MAGEC2. Belongs to the TRIM/RBCC family. Contains 2 B box-type zinc fingers. Contains 1 bromo domain. Contains 1 PHD-type zinc finger. Contains 1 RING-type zinc finger. negative regulation of transcription from RNA polymerase II promoter chromatin in utero embryonic development epithelial to mesenchymal transition DNA binding chromatin binding transcription coactivator activity transcription corepressor activity RNA binding protein kinase activity ubiquitin-protein transferase activity protein binding nucleus nucleoplasm nuclear euchromatin nuclear heterochromatin DNA repair chromatin organization transcription initiation from RNA polymerase II promoter protein phosphorylation Ras protein signal transduction embryo implantation zinc ion binding viral process protein ubiquitination transferase activity protein sumoylation SUMO transferase activity ubiquitin protein ligase binding Krueppel-associated box domain binding positive regulation of protein import into nucleus DNA methylation involved in embryo development positive regulation of DNA binding sequence-specific DNA binding innate immune response positive regulation of DNA repair negative regulation of single stranded viral RNA replication via double stranded DNA intermediate negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated protein autophosphorylation metal ion binding protein oligomerization convergent extension involved in axis elongation embryonic placenta morphogenesis chromo shadow domain binding positive regulation of methylation-dependent chromatin silencing RNA polymerase II transcription factor complex negative regulation of DNA demethylation negative regulation of viral release from host cell promoter-specific chromatin binding regulation of genetic imprinting uc002qtg.1 uc002qtg.2 uc002qtg.3 
ENST00000253031.6 YIPF2 ENST00000253031.6 Homo sapiens Yip1 domain family member 2 (YIPF2), transcript variant 1, mRNA. (from RefSeq NM_024029) ENST00000253031.1 ENST00000253031.2 ENST00000253031.3 ENST00000253031.4 ENST00000253031.5 NM_024029 Q9BWQ6 YIPF2_HUMAN uc002mqc.1 uc002mqc.2 uc002mqc.3 uc002mqc.4 Membrane; Multi-pass membrane protein (Potential). Belongs to the YIP1 family. 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 uc002mqc.1 uc002mqc.2 uc002mqc.3 uc002mqc.4 
ENST00000253039.9 EIF2S3 ENST00000253039.9 Homo sapiens eukaryotic translation initiation factor 2 subunit gamma (EIF2S3), mRNA. (from RefSeq NM_001415) B5BTZ4 EIF2G ENST00000253039.1 ENST00000253039.2 ENST00000253039.3 ENST00000253039.4 ENST00000253039.5 ENST00000253039.6 ENST00000253039.7 ENST00000253039.8 IF2G_HUMAN NM_001415 P41091 uc004dbc.1 uc004dbc.2 uc004dbc.3 uc004dbc.4 uc004dbc.5 uc004dbc.6 The protein encoded by this gene is the largest subunit of a heterotrimeric GTP-binding protein involved in the recruitment of methionyl-tRNA(i) to the 40 S ribosomal subunit. [provided by RefSeq, Jan 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660803.218577.1, SRR1660807.237157.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000253039.9/ ENSP00000253039.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## eIF-2 functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA. This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form a 43S preinitiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF-2 and release of an eIF-2-GDP binary complex. In order for eIF-2 to recycle and catalyze another round of initiation, the GDP bound to eIF-2 must exchange with GTP by way of a reaction catalyzed by eIF-2B. Heterotrimer composed of an alpha, a beta and a gamma chain. P05198:EIF2S1; NbExp=4; IntAct=EBI-1054228, EBI-1056162; P20042:EIF2S2; NbExp=3; IntAct=EBI-1054228, EBI-711977; Belongs to the GTP-binding elongation factor family. EIF2G subfamily. nucleotide binding formation of translation preinitiation complex translation initiation factor activity GTPase activity protein binding GTP binding cytoplasm cytosol eukaryotic translation initiation factor 2 complex translation translational initiation translation factor activity, RNA binding cadherin binding positive regulation of translational fidelity transmembrane transport extracellular exosome tRNA binding nucleus uc004dbc.1 uc004dbc.2 uc004dbc.3 uc004dbc.4 uc004dbc.5 uc004dbc.6 
ENST00000253047.7 TMEM160 ENST00000253047.7 Homo sapiens transmembrane protein 160 (TMEM160), mRNA. (from RefSeq NM_017854) ENST00000253047.1 ENST00000253047.2 ENST00000253047.3 ENST00000253047.4 ENST00000253047.5 ENST00000253047.6 NM_017854 Q9BU41 Q9NX00 TM160_HUMAN uc002pfz.1 uc002pfz.2 uc002pfz.3 uc002pfz.4 uc002pfz.5 Membrane; Multi-pass membrane protein (Potential). Belongs to the TMEM160 family. membrane integral component of membrane uc002pfz.1 uc002pfz.2 uc002pfz.3 uc002pfz.4 uc002pfz.5 
ENST00000253048.10 ZC3H4 ENST00000253048.10 Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA. (from RefSeq NM_015168) C19orf7 ENST00000253048.1 ENST00000253048.2 ENST00000253048.3 ENST00000253048.4 ENST00000253048.5 ENST00000253048.6 ENST00000253048.7 ENST00000253048.8 ENST00000253048.9 KIAA1064 NM_015168 Q9UPT8 Q9Y420 ZC3H4_HUMAN uc002pga.1 uc002pga.2 uc002pga.3 uc002pga.4 uc002pga.5 uc002pga.6 This gene encodes a member of a family of CCCH (C-x8-C-x5-C-x3-H type) zinc finger domain-containing proteins. These zinc finger domains, which coordinate zinc finger binding and are characterized by three cysteine residues and one histidine residue, are nucleic acid-binding. Other family members are known to function in post-transcriptional regulation. [provided by RefSeq, Aug 2011]. ##Evidence-Data-START## Transcript exon combination :: AB028987.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000253048.10/ ENSP00000253048.4 RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## Phosphorylated upon DNA damage, probably by ATM or ATR. Contains 3 C3H1-type zinc fingers. Sequence=BAA83016.2; Type=Erroneous initiation; nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding transcription factor activity, sequence-specific DNA binding RNA binding nucleus nucleoplasm cytosol regulation of transcription from RNA polymerase II promoter negative regulation of transcription, DNA-templated metal ion binding uc002pga.1 uc002pga.2 uc002pga.3 uc002pga.4 uc002pga.5 uc002pga.6 
ENST00000253055.8 MAP3K10 ENST00000253055.8 Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA. (from RefSeq NM_002446) ENST00000253055.1 ENST00000253055.2 ENST00000253055.3 ENST00000253055.4 ENST00000253055.5 ENST00000253055.6 ENST00000253055.7 M3K10_HUMAN MLK2 MST NM_002446 Q02779 Q12761 Q14871 uc002ona.1 uc002ona.2 uc002ona.3 uc002ona.4 The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase has been shown to activate MAPK8/JNK and MKK4/SEK1, and this kinase itself can be phoshorylated, and thus activated by JNK kinases. This kinase functions preferentially on the JNK signaling pathway, and is reported to be involved in nerve growth factor (NGF) induced neuronal 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 :: X90846.1, Z48615.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000253055.8/ ENSP00000253055.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Activates the JUN N-terminal pathway (By similarity). ATP + a protein = ADP + a phosphoprotein. Magnesium (By similarity). Homodimerization via the leucine zipper domains is required for autophosphorylation and subsequent activation (By similarity). Homodimer (By similarity). Expressed in brain and skeletal muscle. Autophosphorylation on serine and threonine residues within the activation loop plays a role in enzyme activation (By similarity). Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily. Contains 1 protein kinase domain. Contains 1 SH3 domain. nucleotide binding activation of MAPKK activity transcription corepressor activity protein kinase activity protein serine/threonine kinase activity JUN kinase kinase kinase activity MAP kinase kinase kinase activity ATP binding cytoplasm protein phosphorylation apoptotic process signal transduction smoothened signaling pathway JNK cascade activation of JNKK activity activation of JUN kinase activity cell death kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation peptidyl-threonine phosphorylation protein homodimerization activity positive regulation of apoptotic process bHLH transcription factor binding negative regulation of sequence-specific DNA binding transcription factor activity positive regulation of JUN kinase activity negative regulation of transcription, DNA-templated positive regulation of JNK cascade protein autophosphorylation uc002ona.1 uc002ona.2 uc002ona.3 uc002ona.4 
ENST00000253063.4 SESN2 ENST00000253063.4 Homo sapiens sestrin 2 (SESN2), mRNA. (from RefSeq NM_031459) ENST00000253063.1 ENST00000253063.2 ENST00000253063.3 NM_031459 P58004 Q5T7D0 Q96SI5 SESN2_HUMAN SEST2 uc001bps.1 uc001bps.2 uc001bps.3 uc001bps.4 uc001bps.5 This gene encodes a member of the sestrin family of PA26-related proteins. The encoded protein may function in the regulation of cell growth and survival. This protein may be involved in cellular response to different stress conditions. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY123223.1, SRR1660803.54785.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000253063.4/ ENSP00000253063.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in the reduction of peroxiredoxins. Widely expressed. Belongs to the sestrin family. Sequence=BAB55438.1; Type=Erroneous initiation; regulation of protein phosphorylation GDP-dissociation inhibitor activity protein binding nucleus cytoplasm mitochondrion cytosol regulation of gluconeogenesis fatty acid beta-oxidation mitochondrion organization response to glucose positive regulation of macroautophagy oxidoreductase activity oxidoreductase activity, acting on peroxide as acceptor negative regulation of cell growth DNA damage response, signal transduction by p53 class mediator nucleotide-activated protein kinase complex TORC2 complex mitochondrial DNA metabolic process sulfiredoxin activity response to insulin cellular response to amino acid starvation cellular response to oxidative stress positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress cellular response to glucose starvation glucose homeostasis protein kinase B signaling glucose import oxidation-reduction process triglyceride homeostasis leucine binding cellular response to amino acid stimulus cellular response to leucine reactive oxygen species metabolic process cellular oxidant detoxification positive regulation of protein localization to nucleus regulation of response to reactive oxygen species negative regulation of translation in response to endoplasmic reticulum stress negative regulation of TORC1 signaling positive regulation of lipophagy cellular response to leucine starvation regulation of cAMP-dependent protein kinase activity GATOR2 complex ATG1/ULK1 kinase complex uc001bps.1 uc001bps.2 uc001bps.3 uc001bps.4 uc001bps.5 
ENST00000253079.11 CCDC62 ENST00000253079.11 Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA. (from RefSeq NM_201435) A8K8V1 B3KUP3 CCD62_HUMAN ENST00000253079.1 ENST00000253079.10 ENST00000253079.2 ENST00000253079.3 ENST00000253079.4 ENST00000253079.5 ENST00000253079.6 ENST00000253079.7 ENST00000253079.8 ENST00000253079.9 NM_201435 Q6P9F0 Q6ZVF2 Q86VJ0 Q9BYZ5 uc001udc.1 uc001udc.2 uc001udc.3 uc001udc.4 uc001udc.5 Nuclear receptor coactivator that can enhance preferentially estrogen receptors ESR1 and ESR2 transactivation. Modulates also progesterone/PGR, glucocorticoid/NR3C1 and androgen/AR receptors transactivation, although at lower level; little effect on vitamin D receptor/VDR. Interacts with ESR1 and ESR2 in the presence of estradiol/E2. The interaction with ESR2 recruits CCDC62 to ER target genes, including cyclin-D1/CCND1 AP-1 promoter. Cytoplasm. Nucleus. Note=Mainly nuclear. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q6P9F0-1; Sequence=Displayed; Name=2; IsoId=Q6P9F0-2; Sequence=VSP_019329; Name=3; IsoId=Q6P9F0-3; Sequence=VSP_019327, VSP_019328; Note=No experimental confirmation available; Highly expressed in adult testis. Expressed in both prostate epithelial and stromal cells, with predominant expression in epithelial cells (at protein level) (PubMed:19126643). Not detected in prostate by RT-PCR (PubMed:19165854). Overexpressed in various cancers. Contains 2 Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs. The first one is essential for the association with ESR1 and ESR2. Sequence=AAG49396.1; Type=Erroneous initiation; Note=Translation N-terminally extended; blastocyst hatching protein binding nucleus nucleoplasm cytoplasm plasma membrane estrogen receptor binding ligand-dependent nuclear receptor transcription coactivator activity positive regulation of transcription from RNA polymerase II promoter cellular response to estradiol stimulus uc001udc.1 uc001udc.2 uc001udc.3 uc001udc.4 uc001udc.5 
ENST00000253083.9 HIP1R ENST00000253083.9 Homo sapiens huntingtin interacting protein 1 related (HIP1R), transcript variant 1, mRNA. (from RefSeq NM_003959) A6NHQ6 ENST00000253083.1 ENST00000253083.2 ENST00000253083.3 ENST00000253083.4 ENST00000253083.5 ENST00000253083.6 ENST00000253083.7 ENST00000253083.8 HIP12 HIP1R_HUMAN KIAA0655 NM_003959 O75146 Q9UED9 uc001udj.1 uc001udj.2 uc001udj.3 Component of clathrin-coated pits and vesicles, that may link the endocytic machinery to the actin cytoskeleton. Binds 3- phosphoinositides (via ENTH domain). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis. Interacts with actin. Does not interact with huntingtin (By similarity). Interacts with CLTB and HIP1. Homodimer. Homodimerization promotes actin binding. Cytoplasm, perinuclear region. Endomembrane system. Cytoplasmic vesicle, clathrin-coated vesicle membrane. Note=Membrane-associated protein, mainly localized at the endocytic compartments and in the perinuclear region. Brain, heart, kidney, pancreas, and liver, but not in lung or placenta. Binds F-actin via the talin-like I/LWEQ domain. Belongs to the SLA2 family. Contains 1 ENTH (epsin N-terminal homology) domain. Contains 1 I/LWEQ domain. Sequence=BAA31630.1; Type=Erroneous initiation; actin binding protein binding phospholipid binding phosphatidylinositol-4,5-bisphosphate binding phosphatidylinositol-3,4,5-trisphosphate binding cytoplasm mitochondrion cytosol cytoskeleton clathrin-coated pit cell cortex endocytosis receptor-mediated endocytosis apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process actin filament organization endomembrane system postsynaptic density membrane apical plasma membrane SH3 domain binding regulation of endocytosis clathrin-coated vesicle clathrin binding actin cortical patch clathrin-coated vesicle membrane negative regulation of actin filament polymerization cytoplasmic vesicle clathrin light chain binding positive regulation of protein binding ruffle membrane dendrite cytoplasm regulation of actin cytoskeleton organization negative regulation of Arp2/3 complex-mediated actin nucleation phosphatidylinositol binding clathrin adaptor activity identical protein binding protein homodimerization activity neuronal cell body positive regulation of apoptotic process negative regulation of apoptotic process dendritic spine intracellular membrane-bounded organelle phosphatidylinositol-3,4-bisphosphate binding positive regulation of epidermal growth factor receptor signaling pathway protein heterodimerization activity positive regulation of receptor-mediated endocytosis clathrin coat assembly perinuclear region of cytoplasm protein stabilization actin filament binding digestive system development regulation of gastric acid secretion membrane organization phosphatidylinositol-3,5-bisphosphate binding synaptic membrane positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway positive regulation of clathrin coat assembly regulation of clathrin-dependent endocytosis positive regulation of platelet-derived growth factor receptor-beta signaling pathway uc001udj.1 uc001udj.2 uc001udj.3 
ENST00000253107.12 PPAN ENST00000253107.12 Homo sapiens peter pan homolog (PPAN), transcript variant 1, mRNA. (from RefSeq NM_020230) BXDC3 ENST00000253107.1 ENST00000253107.10 ENST00000253107.11 ENST00000253107.2 ENST00000253107.3 ENST00000253107.4 ENST00000253107.5 ENST00000253107.6 ENST00000253107.7 ENST00000253107.8 ENST00000253107.9 NM_020230 Q9BW97 Q9H170 Q9NQ55 SSF1 SSF1_HUMAN uc002mmz.1 uc002mmz.2 uc002mmz.3 uc002mmz.4 The protein encoded by this gene is an evolutionarily conserved protein similar to yeast SSF1 as well as to the gene product of the Drosophila gene peter pan (ppan). SSF1 is known to be involved in the second step of mRNA splicing. Both SSF1 and ppan are essential for cell growth and proliferation. Exogenous expression of this gene was reported to reduce the anchorage-independent growth of some tumor cells. Read-through transcription of this gene with P2RY11/P2Y(11), an adjacent downstream gene that encodes an ATP receptor, has been found. These read-through transcripts are ubiquitously present and up-regulated during granulocyte differentiation. [provided by RefSeq, Nov 2010]. May have a role in cell growth. Nucleus, nucleolus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NQ55-1; Sequence=Displayed; Name=2; IsoId=Q9NQ55-2; Sequence=VSP_003973; Note=No experimental confirmation available; Widely expressed. A chimeric transcript, characterized by the first third of PPAN exon 12 joined to P2RY11 exon 2, has been detected. It is possibly produced by trans-splicing. The chimeric transcript is widely expressed and can be induced by retinoic acid during the granulocytic differentiation of the HL60 cell line. The resulting chimeric protein shows a much lower activity than the non-chimeric P2RY11 gene product, but qualitatively indistinguishable (PubMed:11278528). Contains 1 Brix domain. ribosomal large subunit assembly RNA binding nucleus nucleolus preribosome, large subunit precursor uc002mmz.1 uc002mmz.2 uc002mmz.3 uc002mmz.4 
ENST00000253108.9 EIF3G ENST00000253108.9 Homo sapiens eukaryotic translation initiation factor 3 subunit G (EIF3G), mRNA. (from RefSeq NM_003755) EIF3G_HUMAN EIF3S4 ENST00000253108.1 ENST00000253108.2 ENST00000253108.3 ENST00000253108.4 ENST00000253108.5 ENST00000253108.6 ENST00000253108.7 ENST00000253108.8 NM_003755 O14801 O75821 Q969U5 uc002mnd.1 uc002mnd.2 uc002mnd.3 uc002mnd.4 uc002mnd.5 This gene encodes a core subunit of the eukaryotic translation initiation factor 3 (eIF3) complex, which is required for initiation of protein translation. An N-terminal caspase cleavage product of the encoded protein may stimulate degradation of DNA. A mutation in this gene is associated with narcolepsy. [provided by RefSeq, Jul 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.189429.1, AF094850.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2467144 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000253108.9/ ENSP00000253108.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-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. This subunit can bind 18S rRNA. Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is composed of 13 subunits: EIF3A, EIF3B, EIF3C, EIF3D, EIF3E, EIF3F, EIF3G, EIF3H, EIF3I, EIF3J, EIF3K, EIF3L and EIF3M. The eIF-3 complex appears to include 3 stable modules: module A is composed of EIF3A, EIF3B, EIF3G and EIF3I; module B is composed of EIF3F, EIF3H, and EIF3M; and module C is composed of EIF3C, EIF3D, EIF3E, EIF3K and EIF3L. EIF3C of module C binds EIF3B of module A and EIF3H of module B, thereby linking the three modules. EIF3J is a labile subunit that binds to the eIF-3 complex via EIF3B. The eIF-3 complex interacts with RPS6KB1 under conditions of nutrient depletion. Mitogenic stimulation leads to binding and activation of a complex composed of MTOR and RPTOR, leading to phosphorylation and release of RPS6KB1 and binding of EIF4B to eIF-3. Interacts (via C-terminus) with AIFM1 (via N-terminus). P55884:EIF3B; NbExp=4; IntAct=EBI-366632, EBI-366696; Cytoplasm (By similarity). Nucleus. Cytoplasm, perinuclear region. Note=Colocalizes with AIFM1 in the nucleus and perinuclear region. Phosphorylated. Phosphorylation is enhanced upon serum stimulation. Mass=35639.8; Method=Unknown; Range=1-320; Source=PubMed:17322308; Mass=35481.1; Mass_error=0.4; Method=MALDI; Range=1-320; Source=PubMed:18599441; Belongs to the eIF-3 subunit G family. Contains 1 RRM (RNA recognition motif) domain. formation of cytoplasmic translation initiation complex cytoplasmic translational initiation nucleic acid binding RNA binding translation initiation factor activity protein binding cytoplasm cytosol eukaryotic translation initiation factor 3 complex translation translational initiation eukaryotic 43S preinitiation complex eukaryotic 48S preinitiation complex perinuclear region of cytoplasm viral translational termination-reinitiation nucleus uc002mnd.1 uc002mnd.2 uc002mnd.3 uc002mnd.4 uc002mnd.5 
ENST00000253109.5 ANGPTL6 ENST00000253109.5 Homo sapiens angiopoietin like 6 (ANGPTL6), transcript variant 1, mRNA. (from RefSeq NM_031917) A5PKV7 AGF ANGL6_HUMAN ARP5 ENST00000253109.1 ENST00000253109.2 ENST00000253109.3 ENST00000253109.4 NM_031917 Q8NI99 Q9BZZ0 UNQ152/PRO178 uc002mmy.1 uc002mmy.2 uc002mmy.3 May play a role in the wound healing process. May promote epidermal proliferation, remodeling and regeneration. May promote the chemotactic activity of endothelial cells and induce neovascularization. May counteract high-fat diet-induced obesity and related insulin resistance through increased energy expenditure. Secreted (Probable). Contains 1 fibrinogen C-terminal domain. angiogenesis extracellular region multicellular organism development secretory granule cell differentiation extracellular exosome uc002mmy.1 uc002mmy.2 uc002mmy.3 
ENST00000253110.16 SHFL ENST00000253110.16 Homo sapiens shiftless antiviral inhibitor of ribosomal frameshifting (SHFL), transcript variant 1, mRNA. (from RefSeq NM_018381) A8MQT9 C19orf66 CS066_HUMAN ENST00000253110.1 ENST00000253110.10 ENST00000253110.11 ENST00000253110.12 ENST00000253110.13 ENST00000253110.14 ENST00000253110.15 ENST00000253110.2 ENST00000253110.3 ENST00000253110.4 ENST00000253110.5 ENST00000253110.6 ENST00000253110.7 ENST00000253110.8 ENST00000253110.9 NM_018381 Q4G188 Q8IYH6 Q8N8V1 Q9NUL5 uc002mmu.1 uc002mmu.2 uc002mmu.3 uc002mmu.4 uc002mmu.5 uc002mmu.6 Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9NUL5-1; Sequence=Displayed; Name=2; IsoId=Q9NUL5-2; Sequence=VSP_031272; Note=No experimental confirmation available; Name=3; IsoId=Q9NUL5-3; Sequence=VSP_031273; Name=4; IsoId=Q9NUL5-4; Sequence=VSP_031274; Belongs to the UPF0515 family. P-body RNA binding protein binding nucleus nucleoplasm cytoplasm cytosol regulation of translational termination viral replication complex response to type I interferon response to interferon-gamma response to type III interferon response to interferon-beta ribosome binding negative regulation of viral genome replication defense response to virus viral translational frameshifting sequence-specific mRNA binding negative regulation of translational frameshifting uc002mmu.1 uc002mmu.2 uc002mmu.3 uc002mmu.4 uc002mmu.5 uc002mmu.6 
ENST00000253115.7 ZNF426 ENST00000253115.7 Homo sapiens zinc finger protein 426 (ZNF426), transcript variant 1, mRNA. (from RefSeq NM_024106) B3KTL2 ENST00000253115.1 ENST00000253115.2 ENST00000253115.3 ENST00000253115.4 ENST00000253115.5 ENST00000253115.6 NM_024106 Q9BUY5 ZN426_HUMAN uc002mlq.1 uc002mlq.2 uc002mlq.3 uc002mlq.4 uc002mlq.5 Kaposi's sarcoma-associated herpesvirus (KSHV) can be reactivated from latency by the viral protein RTA. The protein encoded by this gene is a zinc finger transcriptional repressor that interacts with RTA to modulate RTA-mediated reactivation of KSHV. While the encoded protein can repress KSHV reactivation, RTA can induce degradation of this protein through the ubiquitin-proteasome pathway to overcome the repression. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]. May be involved in transcriptional regulation. Nucleus (Potential). Contains 12 C2H2-type zinc fingers. Contains 1 KRAB domain. nucleic acid binding DNA binding protein binding nucleus regulation of transcription, DNA-templated metal ion binding uc002mlq.1 uc002mlq.2 uc002mlq.3 uc002mlq.4 uc002mlq.5 
ENST00000253122.10 SLC6A8 ENST00000253122.10 Homo sapiens solute carrier family 6 member 8 (SLC6A8), transcript variant 1, mRNA. (from RefSeq NM_005629) ENST00000253122.1 ENST00000253122.2 ENST00000253122.3 ENST00000253122.4 ENST00000253122.5 ENST00000253122.6 ENST00000253122.7 ENST00000253122.8 ENST00000253122.9 NM_005629 X5D9C4 uc004fib.1 uc004fib.2 uc004fib.3 uc004fib.4 uc004fib.5 The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]. uc004fib.1 uc004fib.2 uc004fib.3 uc004fib.4 uc004fib.5 
ENST00000253188.8 SLC7A10 ENST00000253188.8 Homo sapiens solute carrier family 7 member 10 (SLC7A10), mRNA. (from RefSeq NM_019849) AAA1_HUMAN ASC1 B2RE84 ENST00000253188.1 ENST00000253188.2 ENST00000253188.3 ENST00000253188.4 ENST00000253188.5 ENST00000253188.6 ENST00000253188.7 NM_019849 Q9NS82 uc002num.1 uc002num.2 SLC7A10, in association with 4F2HC (SLC3A2; MIM 158070), mediates high-affinity transport of D-serine and several other neutral amino acids (Nakauchi et al., 2000 [PubMed 10863037]).[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 :: BC022457.1, AB037670.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000253188.8/ ENSP00000253188.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Sodium-independent, high affinity transport of small neutral D- and L-amino acids. May play a role in the modulation of glutamatergic transmission through mobilization of D-serine at the glutamatergic synapse. Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc (By similarity). Membrane; Multi-pass membrane protein (Probable). Expressed in brain, heart, kidney, liver, lung, pancreas, placenta, and skeletal muscle. Belongs to the amino acid-polyamine-organocation (APC) superfamily. plasma membrane integral component of plasma membrane amino acid transport neutral amino acid transmembrane transporter activity L-amino acid transmembrane transporter activity L-serine transmembrane transporter activity neutral amino acid transport L-serine transport membrane integral component of membrane transmembrane transporter activity D-alanine transport D-serine transport leukocyte migration transmembrane transport L-alpha-amino acid transmembrane transport uc002num.1 uc002num.2 
ENST00000253193.9 LRP3 ENST00000253193.9 Homo sapiens LDL receptor related protein 3 (LRP3), mRNA. (from RefSeq NM_002333) B3KQD6 B4DKF2 ENST00000253193.1 ENST00000253193.2 ENST00000253193.3 ENST00000253193.4 ENST00000253193.5 ENST00000253193.6 ENST00000253193.7 ENST00000253193.8 LRP3_HUMAN NM_002333 O75074 uc010edh.1 uc010edh.2 uc010edh.3 uc010edh.4 uc010edh.5 Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. Its precise role is however unclear, since it does not bind to very low density lipoprotein (VLDL) or to LRPAP1 in vitro. Binds GGA1 and GGA2 (By similarity). Membrane; Single-pass type I membrane protein (Potential). Membrane, coated pit (By similarity). Widely expressed. Highly expressed in skeletal muscle and ovary. Expressed at intermediate level in heart, brain, liver, pancreas, prostate and small intestine. Weakly expressed in testis, colon and leukocyte. Belongs to the LDLR family. Contains 2 CUB domains. Contains 4 LDL-receptor class A domains. Sequence=BAG51998.1; Type=Erroneous initiation; Sequence=BAG59164.1; Type=Erroneous initiation; clathrin-coated pit endocytosis receptor-mediated endocytosis membrane integral component of membrane uc010edh.1 uc010edh.2 uc010edh.3 uc010edh.4 uc010edh.5 
ENST00000253237.10 GRWD1 ENST00000253237.10 Homo sapiens glutamate rich WD repeat containing 1 (GRWD1), mRNA. (from RefSeq NM_031485) ENST00000253237.1 ENST00000253237.2 ENST00000253237.3 ENST00000253237.4 ENST00000253237.5 ENST00000253237.6 ENST00000253237.7 ENST00000253237.8 ENST00000253237.9 GRWD GRWD1_HUMAN KIAA1942 NM_031485 Q8TF59 Q9BQ67 WDR28 uc002pjd.1 uc002pjd.2 uc002pjd.3 uc002pjd.4 This gene encodes a glutamate-rich protein that contains five WD-repeat motifs. The encoded protein may play a critical role in ribosome biogenesis and may also play a role in histone methylation through interactions with CUL4-DDB1 ubiquitin E3 ligase. [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 :: SRR1803612.202012.1, SRR1803617.274724.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000253237.10/ ENSP00000253237.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Nucleus, nucleolus. Contains 5 WD repeats. chromatin binding DNA replication origin binding RNA binding protein binding nucleus chromosome nucleolus cytosol DNA replication nucleosome assembly nucleosome disassembly macromolecular complex histone binding uc002pjd.1 uc002pjd.2 uc002pjd.3 uc002pjd.4 
ENST00000253247.9 NOL11 ENST00000253247.9 Homo sapiens nucleolar protein 11 (NOL11), transcript variant 1, mRNA. (from RefSeq NM_015462) ENST00000253247.1 ENST00000253247.2 ENST00000253247.3 ENST00000253247.4 ENST00000253247.5 ENST00000253247.6 ENST00000253247.7 ENST00000253247.8 L14 NM_015462 NOL11_HUMAN Q7L5S1 Q9H8H0 Q9UG18 uc002jgd.1 uc002jgd.2 uc002jgd.3 Nucleus, nucleolus. Sequence=CAB53709.1; Type=Frameshift; Positions=382, 383; RNA binding protein binding nucleus nucleoplasm nucleolus rRNA processing maturation of SSU-rRNA t-UTP complex ribosome biogenesis positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter uc002jgd.1 uc002jgd.2 uc002jgd.3 
ENST00000253251.12 UBE4B ENST00000253251.12 Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 2, mRNA. (from RefSeq NM_006048) ENST00000253251.1 ENST00000253251.10 ENST00000253251.11 ENST00000253251.2 ENST00000253251.3 ENST00000253251.4 ENST00000253251.5 ENST00000253251.6 ENST00000253251.7 ENST00000253251.8 ENST00000253251.9 HDNB1 KIAA0684 NM_006048 O75169 O95155 O95338 Q5SZ12 Q5SZ16 Q96QD4 Q9BYI7 UBE4B_HUMAN UFD2 uc001aqr.1 uc001aqr.2 uc001aqr.3 uc001aqr.4 uc001aqr.5 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes an additional conjugation factor, E4, which is involved in multiubiquitin chain assembly. This gene is also the strongest candidate in the neuroblastoma tumor suppressor genes. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Binds to the ubiquitin moieties of preformed conjugates and catalyzes ubiquitin chain assembly in conjunction with E1, E2, and E3 (By similarity). Interacts with VCP (By similarity). Cytoplasm (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O95155-1; Sequence=Displayed; Name=2; IsoId=O95155-2; Sequence=VSP_007102; Name=3; IsoId=O95155-3; Sequence=VSP_007101, VSP_007102, VSP_007103; Note=No experimental confirmation available; Highest expression in ovary, testis, heart and skeletal muscle. Expression is low in colon, thymus and peripheral blood leukocytes. Almost undetectable in lung and spleen. Proteolytically cleaved by caspases during apoptosis. Cleaved efficiently at Asp-123 by caspase-6 and granzyme B. Cleaved with approximately 10-fold less efficiency at Asp-109 by caspase-3 and caspase-7. Belongs to the ubiquitin conjugation factor E4 family. Contains 1 U-box domain. Sequence=BAA31659.3; Type=Erroneous initiation; ubiquitin ligase complex protein polyubiquitination ventricular trabecula myocardium morphogenesis ubiquitin-protein transferase activity protein binding ATP binding nucleus cytoplasm ubiquitin-dependent protein catabolic process protein monoubiquitination granzyme-mediated apoptotic signaling pathway response to UV protein ubiquitination transferase activity enzyme binding ER-associated ubiquitin-dependent protein catabolic process neuron projection development ubiquitin-ubiquitin ligase activity response to endoplasmic reticulum stress proteasome-mediated ubiquitin-dependent protein catabolic process cellular protein catabolic process ATPase binding protein autoubiquitination ubiquitin protein ligase activity uc001aqr.1 uc001aqr.2 uc001aqr.3 uc001aqr.4 uc001aqr.5 
ENST00000253255.7 PKDREJ ENST00000253255.7 Homo sapiens polycystin family receptor for egg jelly (PKDREJ), mRNA. (from RefSeq NM_006071) B1AJY3 ENST00000253255.1 ENST00000253255.2 ENST00000253255.3 ENST00000253255.4 ENST00000253255.5 ENST00000253255.6 NM_006071 O95850 PKDRE_HUMAN Q9NTG1 uc003bhh.1 uc003bhh.2 uc003bhh.3 uc003bhh.4 uc003bhh.5 This intronless gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a receptor for egg jelly (REJ) domain, a G-protein-coupled receptor proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may play a role in human reproduction. Alternative splice variants have been described but their biological natures have not been determined. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: AF116458.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000253255.7/ ENSP00000253255.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May have a central role in fertilization. May generate a Ca(2+) transporting channel directly involved in initiating the acrosome reaction of the sperm. May form homomultimers or heteromultimers in combination with an as yet unidentified subunits. Membrane; Multi-pass membrane protein (Potential). Exclusively expressed in testis. Belongs to the polycystin family. Contains 1 PLAT domain. Contains 1 REJ domain. calcium channel activity calcium ion binding ion transport acrosome reaction membrane integral component of membrane detection of mechanical stimulus calcium ion transmembrane transport uc003bhh.1 uc003bhh.2 uc003bhh.3 uc003bhh.4 uc003bhh.5 
ENST00000253262.9 NUTM2F ENST00000253262.9 Homo sapiens NUT family member 2F (NUTM2F), mRNA. (from RefSeq NM_017561) A1L443 B6ZDF0 ENST00000253262.1 ENST00000253262.2 ENST00000253262.3 ENST00000253262.4 ENST00000253262.5 ENST00000253262.6 ENST00000253262.7 ENST00000253262.8 FA22F_HUMAN FAM22F NM_017561 Q5SR58 Q5SR59 Q9UFB1 uc004aup.1 uc004aup.2 Belongs to the FAM22 family. Sequence=CAI13277.1; Type=Erroneous gene model prediction; Sequence=CAI13278.1; Type=Erroneous gene model prediction; uc004aup.1 uc004aup.2 
ENST00000253270.13 SLC35D2 ENST00000253270.13 Homo sapiens solute carrier family 35 member D2 (SLC35D2), transcript variant 3, non-coding RNA. (from RefSeq NR_104627) ENST00000253270.1 ENST00000253270.10 ENST00000253270.11 ENST00000253270.12 ENST00000253270.2 ENST00000253270.3 ENST00000253270.4 ENST00000253270.5 ENST00000253270.6 ENST00000253270.7 ENST00000253270.8 ENST00000253270.9 HFRC NR_104627 O95454 Q498C1 Q75W21 Q76EJ3 Q7Z5X5 S35D2_HUMAN UGTREL8 uc004awc.1 uc004awc.2 uc004awc.3 uc004awc.4 uc004awc.5 uc004awc.6 Nucleotide sugars, which are synthesized in the cytosol or the nucleus, are high-energy donor substrates for glycosyltransferases located in the lumen of the endoplasmic reticulum and Golgi apparatus. Translocation of nucleotide sugars from the cytosol into the lumen compartment is mediated by specific nucleotide sugar transporters, such as SLC35D2 (Suda et al., 2004 [PubMed 15082721]).[supplied by OMIM, Mar 2008]. Antiporter transporting nucleotide sugars such as UDP-N- acetylglucosamine (UDP-GlcNAc), UDP-glucose (UDP-Glc) and GDP- mannose (GDP-Man) pooled in the cytosol into the lumen of the Golgi in exchange for the corresponding nucleosides monophosphates (UMP for UDP-sugars and GMP for GDP-sugars). May take part in heparan sulfate synthesis by supplying UDP-Glc-NAc, the donor substrate, and thus be involved in growth factor signaling. Kinetic parameters: KM=8 uM for UDP-N-acetylglucosamine; KM=2.1 uM for UDP-glucose; KM=0.14 uM for GDP-mannose; Golgi apparatus membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q76EJ3-1; Sequence=Displayed; Name=2; IsoId=Q76EJ3-2; Sequence=VSP_030006; Note=No experimental confirmation available; Highly expressed in heart, kidney, small intestine, placenta, lung and peripheral blood leukocyte. Weakly expressed in skeletal muscle and spleen. Not expressed in brain, colon and thymus. Belongs to the TPT transporter family. SLC35D subfamily. Golgi membrane nucleotide-sugar transmembrane transporter activity UDP-glucuronic acid transmembrane transporter activity UDP-N-acetylglucosamine transmembrane transporter activity UDP-N-acetylgalactosamine transmembrane transporter activity Golgi apparatus glycosaminoglycan biosynthetic process biological_process carbohydrate transport pyrimidine nucleotide-sugar transmembrane transporter activity antiporter activity UDP-glucuronic acid transport UDP-N-acetylgalactosamine transport nucleobase-containing compound transport membrane integral component of membrane keratan sulfate biosynthetic process transmembrane transporter activity transmembrane transport pyrimidine nucleotide-sugar transmembrane transport carbohydrate derivative transport UDP-N-acetylglucosamine transmembrane transport uc004awc.1 uc004awc.2 uc004awc.3 uc004awc.4 uc004awc.5 uc004awc.6 
ENST00000253329.3 PPIL4 ENST00000253329.3 Homo sapiens peptidylprolyl isomerase like 4 (PPIL4), mRNA. (from RefSeq NM_139126) B2RD34 ENST00000253329.1 ENST00000253329.2 NM_139126 PPIL4_HUMAN Q7Z3Q5 Q8WUA2 uc003qmo.1 uc003qmo.2 uc003qmo.3 uc003qmo.4 This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AF357880.1, SRR1803612.259629.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000253329.3/ ENSP00000253329.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity). Peptidylproline (omega=180) = peptidylproline (omega=0). Nucleus (Probable). Abundantly expressed in kidney but has a ubiquitously low expression pattern in other adult tissues. Belongs to the cyclophilin-type PPIase family. PPIL4 subfamily. Contains 1 PPIase cyclophilin-type domain. Contains 1 RRM (RNA recognition motif) domain. protein peptidyl-prolyl isomerization nucleic acid binding RNA binding peptidyl-prolyl cis-trans isomerase activity nucleus nucleoplasm cytosol isomerase activity regulation of phosphorylation of RNA polymerase II C-terminal domain uc003qmo.1 uc003qmo.2 uc003qmo.3 uc003qmo.4 
ENST00000253354.2 BPIFB1 ENST00000253354.2 Homo sapiens BPI fold containing family B member 1 (BPIFB1), mRNA. (from RefSeq NM_033197) A8K2H8 BPIB1_HUMAN C20orf114 ENST00000253354.1 LPLUNC1 NM_033197 Q5QP43 Q6UWY1 Q6ZRU7 Q8TDL5 Q96HK6 Q9BQP8 Q9BWZ6 Q9H4V6 UNQ706/PRO1357 uc002wyw.1 uc002wyw.2 The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth, nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI/LBP/PLUNC protein superfamily. This gene is found with other members of the superfamily in a cluster on chromosome 20. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC008429.1, AF364078.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000253354.2/ ENSP00000253354.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## May play a role in innate immunity in mouth, nose and lungs. Secreted (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8TDL5-1; Sequence=Displayed; Name=2; IsoId=Q8TDL5-2; Sequence=VSP_015285, VSP_015286, VSP_015287, VSP_015288; Note=No experimental confirmation available; Detected in trachea, nasal septal epithelium and lung. Belongs to the BPI/LBP/Plunc superfamily. Plunc family. innate immune response in mucosa immune system process molecular_function extracellular region extracellular space lipid binding antimicrobial humoral response negative regulation of toll-like receptor 4 signaling pathway innate immune response extracellular exosome uc002wyw.1 uc002wyw.2 
ENST00000253362.6 BPIFA2 ENST00000253362.6 Homo sapiens BPI fold containing family A member 2 (BPIFA2), transcript variant 2, mRNA. (from RefSeq NM_001319164) BPIA2_HUMAN C20orf70 ENST00000253362.1 ENST00000253362.2 ENST00000253362.3 ENST00000253362.4 ENST00000253362.5 NM_001319164 Q96DR5 Q9BQQ0 SPLUNC2 UNQ510/PRO1025 uc061wfu.1 This gene encodes a member of the palate, lung and nasal epithelium clone (Plunc) family of proteins. Members of this family have been proposed to play a role in the local antibacterial response in nose, mouth and upper respiratory pathways. The encoded soluble salivary protein binds bacterial lipopolysaccharide (LPS) and inhibits bacterial growth. This gene is present in a gene cluster on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. Secreted (By similarity). Detected in submandibular gland. Belongs to the BPI/LBP/Plunc superfamily. Plunc family. lipopolysaccharide binding protein binding extracellular region lipid binding antimicrobial humoral response defense response to bacterium extracellular exosome uc061wfu.1 
ENST00000253381.3 DEFB118 ENST00000253381.3 Homo sapiens defensin beta 118 (DEFB118), mRNA. (from RefSeq NM_054112) C20orf63 DB118_HUMAN DEFB18 ENST00000253381.1 ENST00000253381.2 ESC42 NM_054112 Q17RC4 Q8N691 Q96PH6 Q9NUH0 uc002wvr.1 uc002wvr.2 uc002wvr.3 uc002wvr.4 uc002wvr.5 This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. Expression of this gene is regulated by androgen, and the encoded protein binds to sperm and exhibits antibacterial activity against E. coli. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. [provided by RefSeq, Nov 2014]. ##Evidence-Data-START## Transcript exon combination :: BC035677.1, SRR5189667.351993.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000253381.3/ ENSP00000253381.2 Protein has antimicrobial activity :: PMID: 15033915 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Has antibacterial activity (Potential). Secreted. High-level and epididymis-specific expression. Most abundant in the epithelium of the caput and is also present in the lumen and bound to sperm. Expressed also in pancreas. Belongs to the beta-defensin family. extracellular region defense response cell-matrix adhesion spermatogenesis killing of cells of other organism defense response to bacterium innate immune response defense response to Gram-negative bacterium membrane disruption in other organism uc002wvr.1 uc002wvr.2 uc002wvr.3 uc002wvr.4 uc002wvr.5 
ENST00000253382.5 ACSS2 ENST00000253382.5 Homo sapiens acyl-CoA synthetase short chain family member 2 (ACSS2), transcript variant 2, mRNA. (from RefSeq NM_001076552) ACAS2 ACSA_HUMAN ENST00000253382.1 ENST00000253382.2 ENST00000253382.3 ENST00000253382.4 NM_001076552 Q5QPH2 Q96EL0 Q9NQP7 Q9NR19 Q9UJ15 uc010gey.1 uc010gey.2 uc010gey.3 This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]. Activates acetate so that it can be used for lipid synthesis or for energy generation. ATP + acetate + CoA = AMP + diphosphate + acetyl-CoA. Monomer. Q92900:UPF1; NbExp=1; IntAct=EBI-372879, EBI-373471; Cytoplasm. Belongs to the ATP-dependent AMP-binding enzyme family. nucleotide binding catalytic activity acetate-CoA ligase activity ATP binding nucleoplasm cytoplasm mitochondrial matrix cytosol ethanol oxidation acetyl-CoA biosynthetic process lipid biosynthetic process AMP binding ligase activity acetate biosynthetic process acetyl-CoA biosynthetic process from acetate propionate biosynthetic process intracellular membrane-bounded organelle propionate-CoA ligase activity uc010gey.1 uc010gey.2 uc010gey.3 
ENST00000253401.10 ARHGEF9 ENST00000253401.10 Homo sapiens Cdc42 guanine nucleotide exchange factor 9 (ARHGEF9), transcript variant 1, mRNA. (from RefSeq NM_015185) A8K1S8 ARHDH9 ARHG9_HUMAN B4DHC7 ENST00000253401.1 ENST00000253401.2 ENST00000253401.3 ENST00000253401.4 ENST00000253401.5 ENST00000253401.6 ENST00000253401.7 ENST00000253401.8 ENST00000253401.9 KIAA0424 NM_015185 O43307 Q5JSL6 uc004dvl.1 uc004dvl.2 uc004dvl.3 The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. This brain-specific protein also acts as an adaptor protein for the recruitment of gephyrin and together these proteins facilitate receceptor recruitement in GABAnergic and glycinergic synapses. Defects in this gene are the cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy, as well as several other types of cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 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 :: AB007884.1, SRR1660805.180481.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters. Interacts with GPHN. Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=CB3(SH3+); IsoId=O43307-1; Sequence=Displayed; Name=2; Synonyms=CB3(SH3-); IsoId=O43307-2; Sequence=VSP_042920, VSP_042921; Detected in brain. Detected at low levels in heart. Defects in ARHGEF9 are the cause of pileptic encephalopathy, early infantile, type 8 (EIEE8) [MIM:300607]. A disorder characterized by hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle response, seizures, impaired psychomotor development, and mental retardation. Seizures can be provoked by tactile stimulation or extreme emotion. Contains 1 DH (DBL-homology) domain. Contains 1 PH domain. Contains 1 SH3 domain. Sequence=BAA24854.2; Type=Erroneous initiation; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ARHGEF9"; guanyl-nucleotide exchange factor activity Rho guanyl-nucleotide exchange factor activity cytoplasm cytosol plasma membrane G-protein coupled receptor signaling pathway postsynaptic density membrane cell junction regulation of Rho protein signal transduction positive regulation of apoptotic process synapse postsynaptic membrane regulation of small GTPase mediated signal transduction uc004dvl.1 uc004dvl.2 uc004dvl.3 
ENST00000253407.4 C1QL1 ENST00000253407.4 Homo sapiens complement C1q like 1 (C1QL1), mRNA. (from RefSeq NM_006688) C1QRF C1QRF_HUMAN CRF ENST00000253407.1 ENST00000253407.2 ENST00000253407.3 NM_006688 O75973 uc002ihv.1 uc002ihv.2 uc002ihv.3 uc002ihv.4 uc002ihv.5 May regulate the number of excitatory synapses that are formed on hippocampus neurons. Has no effect on inhibitory synapses (By similarity). Interacts with BAI3 (By similarity). Secreted. Expressed in brainstem. Contains 1 C1q domain. Contains 1 collagen-like domain. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/crf/"; molecular_function receptor binding protein binding cellular_component extracellular region collagen trimer cytoplasm locomotory behavior neuron remodeling synaptic cleft climbing fiber motor learning presynapse maintenance of synapse structure uc002ihv.1 uc002ihv.2 uc002ihv.3 uc002ihv.4 uc002ihv.5 
ENST00000253413.10 ATP6V1E1 ENST00000253413.10 Homo sapiens ATPase H+ transporting V1 subunit E1 (ATP6V1E1), transcript variant 1, mRNA. (from RefSeq NM_001696) ENST00000253413.1 ENST00000253413.2 ENST00000253413.3 ENST00000253413.4 ENST00000253413.5 ENST00000253413.6 ENST00000253413.7 ENST00000253413.8 ENST00000253413.9 NM_001696 Q53Y06 Q53Y06_HUMAN hCG_21530 uc002zmr.1 uc002zmr.2 uc002zmr.3 uc002zmr.4 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]. cytoplasm lysosomal membrane endosome cytosol microvillus hydrogen-exporting ATPase activity, phosphorylative mechanism apical plasma membrane proton-transporting two-sector ATPase complex, catalytic domain proton-transporting ATPase activity, rotational mechanism hydrogen ion transmembrane transport uc002zmr.1 uc002zmr.2 uc002zmr.3 uc002zmr.4 
ENST00000253452.8 COX4I1 ENST00000253452.8 Homo sapiens cytochrome c oxidase subunit 4I1 (COX4I1), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001861) B2R4J2 COX4 COX41_HUMAN D3DUM7 ENST00000253452.1 ENST00000253452.2 ENST00000253452.3 ENST00000253452.4 ENST00000253452.5 ENST00000253452.6 ENST00000253452.7 NM_001861 P13073 Q6P666 uc002fje.1 uc002fje.2 uc002fje.3 uc002fje.4 uc002fje.5 uc002fje.6 Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit IV isoform 1 of the human mitochondrial respiratory chain enzyme. It is located at the 3' of the NOC4 (neighbor of COX4) gene in a head-to-head orientation, and shares a promoter with it. Pseudogenes related to this gene are located on chromosomes 13 and 14. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]. This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. Q9HC24:TMBIM4; NbExp=1; IntAct=EBI-1056574, EBI-1045545; Mitochondrion inner membrane. Ubiquitous. Belongs to the cytochrome c oxidase IV family. cytochrome-c oxidase activity protein binding nucleus mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex IV generation of precursor metabolites and energy mitochondrial electron transport, cytochrome c to oxygen response to nutrient membrane mitochondrial membrane hydrogen ion transmembrane transport uc002fje.1 uc002fje.2 uc002fje.3 uc002fje.4 uc002fje.5 uc002fje.6 
ENST00000253457.8 EMC8 ENST00000253457.8 Homo sapiens ER membrane protein complex subunit 8 (EMC8), transcript variant 1, mRNA. (from RefSeq NM_006067) COX4NB ENST00000253457.1 ENST00000253457.2 ENST00000253457.3 ENST00000253457.4 ENST00000253457.5 ENST00000253457.6 ENST00000253457.7 NM_006067 Q53Y03 Q53Y03_HUMAN hCG_17045 uc002fjd.1 uc002fjd.2 uc002fjd.3 uc002fjd.4 uc002fjd.5 protein binding cytosol ER membrane protein complex uc002fjd.1 uc002fjd.2 uc002fjd.3 uc002fjd.4 uc002fjd.5 
ENST00000253462.8 GINS2 ENST00000253462.8 Homo sapiens GINS complex subunit 2 (GINS2), mRNA. (from RefSeq NM_016095) CGI-122 D3DUM5 DC5 ENST00000253462.1 ENST00000253462.2 ENST00000253462.3 ENST00000253462.4 ENST00000253462.5 ENST00000253462.6 ENST00000253462.7 HSPC037 NM_016095 PSF2 PSF2_HUMAN Q6IAG9 Q9Y248 uc002fja.1 uc002fja.2 uc002fja.3 uc002fja.4 uc002fja.5 The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1 (GINS1; MIM 610608), Psf2, and Psf3 (GINS3; MIM 610610). The formation of this complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[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 :: SRR3476690.164475.1, SRR3476690.52716.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000253462.8/ ENSP00000253462.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## The GINS complex plays an essential role in the initiation of DNA replication, and progression of DNA replication forks. GINS complex seems to bind preferentially to single- stranded DNA. Component of the GINS complex which is a heterotetramer of GINS1, GINS2, GINS3 and GINS4. Forms a stable subcomplex with GINS3. GINS complex interacts with DNA primase in vitro. O96017:CHEK2; NbExp=2; IntAct=EBI-747491, EBI-1180783; Nucleus (By similarity). Phosphorylated upon DNA damage, probably by ATM or ATR. Mass=98373; Mass_error=13; Method=Electrospray; Range=1-185; Note=This is the measured mass for the GINS complex; Source=PubMed:17557111; Belongs to the GINS2/PSF2 family. double-strand break repair via break-induced replication GINS complex protein binding nucleus nucleoplasm DNA replication DNA strand elongation involved in DNA replication replication fork protection complex DNA duplex unwinding 3'-5' DNA helicase activity uc002fja.1 uc002fja.2 uc002fja.3 uc002fja.4 uc002fja.5 
ENST00000253496.4 F12 ENST00000253496.4 Homo sapiens coagulation factor XII (F12), mRNA. (from RefSeq NM_000505) ENST00000253496.1 ENST00000253496.2 ENST00000253496.3 FA12_HUMAN NM_000505 P00748 P78339 uc003mgo.1 uc003mgo.2 uc003mgo.3 uc003mgo.4 uc003mgo.5 uc003mgo.6 This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a proline-rich domain, whereas the light chain contains only a catalytic domain. On activation, further cleavages takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting time is prolonged. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M11723.1, AB095845.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein regulatory uORF :: PMID: 19372376 ##RefSeq-Attributes-END## Factor XII is a serum glycoprotein that participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then trypsin cleaves it to beta- factor XIIa. Alpha-factor XIIa activates factor XI to factor XIa. Selective cleavage of Arg-|-Ile bonds in factor VII to form factor VIIa and factor XI to form factor XIa. Interacts with HRG; the interaction, which is enhanced in the presence of zinc ions and inhibited by heparin-binding, inhibits factor XII autoactivation and contact-initiated coagulation. Secreted. Factor XII is activated by kallikrein in alpha-factor XIIa, which is then further converted by trypsin into beta-factor XIIa. Alpha-factor XIIa is composed of the NH2-terminal heavy chain (Coagulation factor XIIa heavy chain) and the COOH-terminal light chain (Coagulation factor XIIa light chain), connected by a disulfide bond. Beta-factor XIIa is composed of 2 chains linked by a disulfide bond, a light chain (Beta-factor XIIa part 2), corresponding to the COOH-terminal light chain (Coagulation factor XIIa light chain) and a nonapeptide (Beta-factor XIIa part 1). O- and N-glycosylated. The O-linked polysaccharides were not identified, but are probably the mucin type linked to GalNAc. Defects in F12 are the cause of factor XII deficiency (FA12D) [MIM:234000]; also known as Hageman factor deficiency. This trait is an asymptomatic anomaly of in vitro blood coagulation. Its diagnosis is based on finding a low plasma activity of the factor in coagulating assays. It is usually only accidentally discovered through pre-operative blood tests. F12 deficiency is divided into two categories, a cross-reacting material (CRM)-negative group (negative F12 antigen detection) and a CRM-positive group (positive F12 antigen detection). Defects in F12 are the cause of hereditary angioedema type 3 (HAE3) [MIM:610618]; also known as estrogen-related HAE or hereditary angioneurotic edema with normal C1 inhibitor concentration and function. HAE is characterized by episodic local subcutaneous edema, and submucosal edema involving the upper respiratory and gastrointestinal tracts. HAE3 occurs exclusively in women and is precipitated or worsened by high estrogen levels (e.g. during pregnancy or treatment with oral contraceptives). It differs from HAE types 1 and 2 in that both concentration and function of C1 inhibitor are normal. Belongs to the peptidase S1 family. Contains 2 EGF-like domains. Contains 1 fibronectin type-I domain. Contains 1 fibronectin type-II domain. Contains 1 kringle domain. Contains 1 peptidase S1 domain. Name=Wikipedia; Note=Factor XII entry; URL="http://en.wikipedia.org/wiki/Factor_XII"; Name=F12base; Note=F12 mutation db; URL="http://bioinf.uta.fi/F12base/"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/f12/"; plasma kallikrein-kinin cascade Factor XII activation serine-type endopeptidase activity calcium ion binding protein binding extracellular region extracellular space rough endoplasmic reticulum plasma membrane proteolysis blood coagulation blood coagulation, intrinsic pathway hemostasis peptidase activity serine-type peptidase activity positive regulation of plasminogen activation protein processing protein autoprocessing hydrolase activity positive regulation of blood coagulation zymogen activation fibrinolysis innate immune response misfolded protein binding response to misfolded protein positive regulation of fibrinolysis extracellular exosome uc003mgo.1 uc003mgo.2 uc003mgo.3 uc003mgo.4 uc003mgo.5 uc003mgo.6 
ENST00000253686.7 MRPS25 ENST00000253686.7 Homo sapiens mitochondrial ribosomal protein S25 (MRPS25), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_022497) ENST00000253686.1 ENST00000253686.2 ENST00000253686.3 ENST00000253686.4 ENST00000253686.5 ENST00000253686.6 NM_022497 P82663 Q9H7P5 RPMS25 RT25_HUMAN uc003bzl.1 uc003bzl.2 uc003bzl.3 uc003bzl.4 uc003bzl.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. A pseudogene corresponding to this gene is found on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. Component of the mitochondrial ribosome small subunit (28S) which comprises a 12S rRNA and about 30 distinct proteins. Mitochondrion. Belongs to the ribosomal protein S25/L51 family. Sequence=BAB15723.1; Type=Erroneous initiation; structural constituent of ribosome mitochondrion mitochondrial inner membrane ribosome mitochondrial translational elongation mitochondrial translational termination uc003bzl.1 uc003bzl.2 uc003bzl.3 uc003bzl.4 uc003bzl.5 
ENST00000253693.7 CAPN7 ENST00000253693.7 Homo sapiens calpain 7 (CAPN7), transcript variant 14, non-coding RNA. (from RefSeq NR_164767) CAN7_HUMAN ENST00000253693.1 ENST00000253693.2 ENST00000253693.3 ENST00000253693.4 ENST00000253693.5 ENST00000253693.6 NR_164767 PALBH Q9Y6W3 uc003bzn.1 uc003bzn.2 uc003bzn.3 uc003bzn.4 uc003bzn.5 Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The function of the protein encoded by this gene is not known. An orthologue has been found in mouse but it seems to diverge from other family members. The mouse orthologue is thought to be calcium independent with protease activity. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1803616.231537.1 [ECO:0000332] ##Evidence-Data-END## Calcium-regulated non-lysosomal thiol-protease (By similarity). Broad endopeptidase specificity. Nucleus. Ubiquitous. Belongs to the peptidase C2 family. Contains 1 calpain catalytic domain. endopeptidase activity calcium-dependent cysteine-type endopeptidase activity protein binding nucleus proteolysis peptidase activity cysteine-type peptidase activity positive regulation of epithelial cell migration hydrolase activity extracellular exosome MIT domain binding self proteolysis uc003bzn.1 uc003bzn.2 uc003bzn.3 uc003bzn.4 uc003bzn.5 
ENST00000253697.8 C3orf20 ENST00000253697.8 Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA. (from RefSeq NM_032137) CC020_HUMAN ENST00000253697.1 ENST00000253697.2 ENST00000253697.3 ENST00000253697.4 ENST00000253697.5 ENST00000253697.6 ENST00000253697.7 NM_032137 Q7L0U6 Q8NCP2 Q8ND61 Q9H0I7 uc003byy.1 uc003byy.2 uc003byy.3 uc003byy.4 uc003byy.5 Membrane; Single-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8ND61-1; Sequence=Displayed; Name=2; IsoId=Q8ND61-2; Sequence=VSP_017722; cytoplasm membrane integral component of membrane uc003byy.1 uc003byy.2 uc003byy.3 uc003byy.4 uc003byy.5 
ENST00000253699.7 RBSN ENST00000253699.7 Homo sapiens rabenosyn, RAB effector (RBSN), transcript variant 1, mRNA. (from RefSeq NM_022340) ENST00000253699.1 ENST00000253699.2 ENST00000253699.3 ENST00000253699.4 ENST00000253699.5 ENST00000253699.6 NM_022340 Q3KP30 Q59EY8 Q8NAQ1 Q9H1K0 RBNS5_HUMAN ZFYVE20 uc003bzm.1 This gene encodes a protein that belongs to the FYVE zinc finger family of proteins. The encoded protein interacts with Ras-related proteins that regulate membrane trafficking. A missense mutation in this gene is associated with a defect in the early endocytic pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]. Rab4/Rab5 effector protein acting in early endocytic membrane fusion and membrane trafficking of recycling endosomes. Required for endosome fusion either homotypically or with clathrin coated vesicles. Plays a role in the lysosomal trafficking of CTSD/cathepsin D from the Golgi to lysosomes. Also promotes the recycling of transferrin directly from early endosomes to the plasma membrane. Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate (PtdInsP3). Interacts with EHD1, RAB4A, RAB5A, RAB14, RAB22A, RAB24 and VPS45. Binds simultaneously to RAB4A and RAB5A in vitro. Interacts with RAB4A and RAB5A that has been activated by GTP binding. Cell membrane; Lipid-anchor; Cytoplasmic side. Early endosome membrane; Lipid-anchor. Contains 1 C2H2-type zinc finger. Contains 1 FYVE-type zinc finger. Contains 1 UIM (ubiquitin-interacting motif) repeat. Sequence=BAC03860.1; Type=Erroneous initiation; Sequence=BAD92910.1; Type=Erroneous initiation; nucleic acid binding protein binding endosome cytosol plasma membrane blood coagulation zinc ion binding endosome membrane protein transport membrane endosomal transport Rab GTPase binding early endosome membrane early endosome to Golgi transport intracellular membrane-bounded organelle metal ion binding extracellular exosome Golgi to lysosome transport regulation of Golgi organization uc003bzm.1 
ENST00000253719.7 NAPSA ENST00000253719.7 Homo sapiens napsin A aspartic peptidase (NAPSA), mRNA. (from RefSeq NM_004851) ENST00000253719.1 ENST00000253719.2 ENST00000253719.3 ENST00000253719.4 ENST00000253719.5 ENST00000253719.6 NAP1 NAPA NAPSA_HUMAN NM_004851 O96009 Q8WWD9 uc002prx.1 uc002prx.2 uc002prx.3 uc002prx.4 uc002prx.5 This gene encodes a member of the peptidase A1 family of aspartic proteases. The encoded preproprotein is proteolytically processed to generate an activation peptide and the mature protease. The activation peptides of aspartic proteinases function as inhibitors of the protease active site. These peptide segments, or pro-parts, are deemed important for correct folding, targeting, and control of the activation of aspartic proteinase zymogens. The encoded protease may play a role in the proteolytic processing of pulmonary surfactant protein B in the lung and may function in protein catabolism in the renal proximal tubules. This gene has been described as a marker for lung adenocarcinoma and renal cell carcinoma. [provided by RefSeq, Feb 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF098484.1, AK308013.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2144333, SAMEA2147920 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000253719.7/ ENSP00000253719.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## May be involved in processing of pneumocyte surfactant precursors. Secreted (Potential). Expressed predominantly in adult lung (type II pneumocytes) and kidney and in fetal lung. Low levels in adult spleen and very low levels in peripheral blood leukocytes. Belongs to the peptidase A1 family. endopeptidase activity aspartic-type endopeptidase activity extracellular region extracellular space lysosome proteolysis peptidase activity hydrolase activity protein catabolic process membrane protein proteolysis surfactant homeostasis cellular protein metabolic process extracellular exosome alveolar lamellar body multivesicular body lumen uc002prx.1 uc002prx.2 uc002prx.3 uc002prx.4 uc002prx.5 
ENST00000253754.8 PDLIM4 ENST00000253754.8 Homo sapiens PDZ and LIM domain 4 (PDLIM4), transcript variant 1, mRNA. (from RefSeq NM_003687) B2R8U1 ENST00000253754.1 ENST00000253754.2 ENST00000253754.3 ENST00000253754.4 ENST00000253754.5 ENST00000253754.6 ENST00000253754.7 NM_003687 P50479 PDLI4_HUMAN Q53Y39 Q96AT8 Q9BTW8 Q9Y292 RIL uc003kwn.1 uc003kwn.2 uc003kwn.3 uc003kwn.4 uc003kwn.5 This gene encodes a protein which may be involved in bone development. Mutations in this gene are associated with susceptibility to osteoporosis. [provided by RefSeq, Nov 2009]. Interacts with the LIM domain with the second and fourth PDZ domains of PTPN13 (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P50479-1; Sequence=Displayed; Name=2; IsoId=P50479-2; Sequence=VSP_003124; Isoform 2 is found in brain. Phosphorylated on tyrosine residue(s). Can be dephosphorylated by PTPN13 (By similarity). Genetic variations in PDLIM4 may be 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. Contains 1 LIM zinc-binding domain. Contains 1 PDZ (DHR) domain. stress fiber actin binding protein binding nucleus cytoplasm endosome cytoskeleton cell-cell adherens junction heart development membrane protein phosphatase binding Z disc lamellipodium actin cytoskeleton organization cell junction actin cytoskeleton reorganization early endosome membrane early endosome lumen filamentous actin recycling endosome lumen protein homodimerization activity cell projection neuron projection dendritic spine synapse postsynaptic membrane metal ion binding perinuclear region of cytoplasm muscle alpha-actinin binding alpha-actinin binding recycling endosome membrane muscle structure development excitatory chemical synaptic transmission uc003kwn.1 uc003kwn.2 uc003kwn.3 uc003kwn.4 uc003kwn.5 
ENST00000253778.13 GFPT2 ENST00000253778.13 Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA. (from RefSeq NM_005110) ENST00000253778.1 ENST00000253778.10 ENST00000253778.11 ENST00000253778.12 ENST00000253778.2 ENST00000253778.3 ENST00000253778.4 ENST00000253778.5 ENST00000253778.6 ENST00000253778.7 ENST00000253778.8 ENST00000253778.9 GFPT2_HUMAN NM_005110 O94808 Q53XM2 Q9BWS4 uc003mlw.1 uc003mlw.2 uc003mlw.3 Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins. L-glutamine + D-fructose 6-phosphate = L- glutamate + D-glucosamine 6-phosphate. Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D- glucosamine biosynthesis; alpha-D-glucosamine 6-phosphate from D- fructose 6-phosphate: step 1/1. Highest levels of expression in heart, placenta, and spinal cord. Contains 1 glutamine amidotransferase type-2 domain. Contains 2 SIS domains. glutamine-fructose-6-phosphate transaminase (isomerizing) activity protein binding cytosol fructose 6-phosphate metabolic process UDP-N-acetylglucosamine metabolic process UDP-N-acetylglucosamine biosynthetic process energy reserve metabolic process protein N-linked glycosylation glutamine metabolic process transaminase activity transferase activity carbohydrate derivative binding carbohydrate derivative metabolic process carbohydrate derivative biosynthetic process cellular response to leukemia inhibitory factor uc003mlw.1 uc003mlw.2 uc003mlw.3 
ENST00000253794.7 VPS25 ENST00000253794.7 Homo sapiens vacuolar protein sorting 25 homolog (VPS25), mRNA. (from RefSeq NM_032353) B2R581 DERP9 EAP20 ENST00000253794.1 ENST00000253794.2 ENST00000253794.3 ENST00000253794.4 ENST00000253794.5 ENST00000253794.6 NM_032353 Q9BRG1 VPS25_HUMAN uc002ibi.1 uc002ibi.2 uc002ibi.3 uc002ibi.4 uc002ibi.5 uc002ibi.6 This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A pseudogene of this gene is present on chromosome 1. [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 :: BC006282.2, SRR5189658.41531.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000253794.7/ ENSP00000253794.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Component of the ESCRT-II complex (endosomal sorting complex required for transport II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. The ESCRT-II complex may also play a role in transcription regulation, possibly via its interaction with ELL. The ESCRT-II complex may be involved in facilitating the budding of certain RNA viruses. Component of a complex at least composed of ELL, SNF8/EAP30, VPS25/EAP20 and VPS36/EAP45 (By similarity). Component of the endosomal sorting complex required for transport II (ESCRT- II), composed of SNF8, VPS36 and 2 copies of VPS25. Interacts with CFTR; the interaction requires misfolded CFTR. Interacts (via C- terminal half) with the ESCRT-III subunit CHMP6 (via N-terminal half). Cytoplasm. Endosome membrane. Nucleus, nucleoplasm. Note=Distributes diffusely throughout the cytoplasm and nucleoplasm, but exhibits a punctate distribution on coexpression with CHMP6. Expressed at the mRNA level in kidney, liver, pancreas, and placenta. Lower levels of expression are found in heart, skeletal muscle, brain and lung. Belongs to the VPS25 family. ESCRT II complex structural molecule activity protein binding nucleus nucleoplasm cytoplasm endosome cytosol negative regulation of epidermal growth factor-activated receptor activity endosome membrane protein transport membrane endosomal transport macroautophagy multivesicular body assembly protein homodimerization activity protein targeting to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway protein N-terminus binding extracellular exosome multivesicular body sorting pathway uc002ibi.1 uc002ibi.2 uc002ibi.3 uc002ibi.4 uc002ibi.5 uc002ibi.6 
ENST00000253796.10 RAMP2 ENST00000253796.10 Homo sapiens receptor activity modifying protein 2 (RAMP2), mRNA. (from RefSeq NM_005854) ENST00000253796.1 ENST00000253796.2 ENST00000253796.3 ENST00000253796.4 ENST00000253796.5 ENST00000253796.6 ENST00000253796.7 ENST00000253796.8 ENST00000253796.9 NM_005854 O60895 Q8N1F2 RAMP2_HUMAN uc002ibg.1 uc002ibg.2 uc002ibg.3 uc002ibg.4 uc002ibg.5 uc002ibg.6 The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP2) protein, CRLR functions as an adrenomedullin receptor. The RAMP2 protein is involved in core glycosylation and transportation of adrenomedullin receptor to the cell surface. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AL548945.3, AJ001015.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000253796.10/ ENSP00000253796.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transports the calcitonin gene-related peptide type 1 receptor (CALCRL) to the plasma membrane. Acts as a receptor for adrenomedullin (AM) together with CALCRL. Heterodimer of CALCRL and RAMP2 (By similarity). Membrane; Single-pass type I membrane protein. Strongly expressed in lung, breast, immune system and fetal tissues. Belongs to the RAMP family. angiogenesis vasculogenesis adrenomedullin receptor activity response to hypoxia sprouting angiogenesis protein binding cell cytoplasm lysosome plasma membrane integral component of plasma membrane clathrin-coated pit calcium ion transport intracellular protein transport G-protein coupled receptor signaling pathway adenylate cyclase-activating G-protein coupled receptor signaling pathway heart development female pregnancy regulation of blood pressure regulation of G-protein coupled receptor protein signaling pathway cell surface positive regulation of gene expression coreceptor activity protein transport membrane integral component of membrane receptor internalization response to estradiol response to progesterone cellular response to hormone stimulus adherens junction assembly cellular response to vascular endothelial growth factor stimulus negative regulation of vascular permeability receptor complex positive regulation of angiogenesis bicellular tight junction assembly basement membrane assembly protein localization to plasma membrane vascular smooth muscle cell development amylin receptor signaling pathway adrenomedullin receptor complex adrenomedullin binding adrenomedullin receptor signaling pathway negative regulation of endothelial cell apoptotic process positive regulation of vasculogenesis amylin receptor activity uc002ibg.1 uc002ibg.2 uc002ibg.3 uc002ibg.4 uc002ibg.5 uc002ibg.6 
ENST00000253799.8 AOC2 ENST00000253799.8 Homo sapiens amine oxidase copper containing 2 (AOC2), transcript variant 2, mRNA. (from RefSeq NM_009590) A5PKW2 AOC2_HUMAN ENST00000253799.1 ENST00000253799.2 ENST00000253799.3 ENST00000253799.4 ENST00000253799.5 ENST00000253799.6 ENST00000253799.7 NM_009590 O00120 O75105 O75106 Q4TTW5 Q9UNY0 uc002ibu.1 uc002ibu.2 uc002ibu.3 uc002ibu.4 uc002ibu.5 uc002ibu.6 Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]. Has a monoamine oxidase activity with substrate specificity for 2-phenylethylamine and tryptamine. May play a role in adipogenesis. May be a critical modulator of signal transmission in retina. RCH(2)NH(2) + H(2)O + O(2) = RCHO + NH(3) + H(2)O(2). Binds 1 copper ion per subunit (By similarity). Binds 2 calcium ions per subunit (By similarity). Contains 1 topaquinone per subunit (By similarity). Kinetic parameters: KM=0.056 mM for tryptamine; KM=0.077 mM for 2-phenylethylamine; KM=0.167 mM for benzylamine; KM=0.178 mM for p-tyramine; KM=1.7 mM for methylamine; Forms heterodimer with AOC3, in vitro. Isoform 1: Cell membrane; Peripheral membrane protein. Note=Present on the surface of the cells. Isoform 2: Cytoplasm. Note=Either not translocated to the plasma membrane or below detection level. Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms seem to exist; Name=1; Synonyms=Long; IsoId=O75106-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=O75106-2; Sequence=VSP_006549; Expressed in many tissues with much higher expression in retina. Isoform 1 and isoform 2 are expressed in adipose tissue, whereas isoform 1 only seems to be present in thymus, and isoform 2 only in testis. Up-regulated during in vitro adipocyte differentiation. Topaquinone (TPQ) is generated by copper-dependent autoxidation of a specific tyrosyl residue. Belongs to the copper/topaquinone oxidase family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/aoc2/"; copper ion binding cytoplasm plasma membrane catecholamine metabolic process xenobiotic metabolic process visual perception primary amine oxidase activity electron carrier activity amine metabolic process membrane oxidoreductase activity electron transport chain metal ion binding quinone binding tryptamine:oxygen oxidoreductase (deaminating) activity aminoacetone:oxygen oxidoreductase(deaminating) activity aliphatic-amine oxidase activity phenethylamine:oxygen oxidoreductase (deaminating) activity oxidation-reduction process uc002ibu.1 uc002ibu.2 uc002ibu.3 uc002ibu.4 uc002ibu.5 uc002ibu.6 
ENST00000253801.7 G6PC1 ENST00000253801.7 Homo sapiens glucose-6-phosphatase catalytic subunit (G6PC), transcript variant 1, mRNA. (from RefSeq NM_000151) A1L4C0 ENST00000253801.1 ENST00000253801.2 ENST00000253801.3 ENST00000253801.4 ENST00000253801.5 ENST00000253801.6 G6PC G6PC_HUMAN G6PT NM_000151 P35575 uc002icb.1 uc002icb.2 uc002icb.3 uc002icb.4 Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]. Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels. D-glucose 6-phosphate + H(2)O = D-glucose + phosphate. Carbohydrate biosynthesis; gluconeogenesis. Endoplasmic reticulum membrane; Multi-pass membrane protein. Defects in G6PC are the cause of glycogen storage disease type 1A (GSD1A) [MIM:232200]. A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. Belongs to the glucose-6-phosphatase family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/G6PC"; glucose-6-phosphatase activity endoplasmic reticulum endoplasmic reticulum membrane glycogen metabolic process glycogen catabolic process gluconeogenesis triglyceride metabolic process phosphate-containing compound metabolic process steroid metabolic process regulation of gene expression glucose-6-phosphate transport membrane integral component of membrane phosphotransferase activity, alcohol group as acceptor hydrolase activity integral component of endoplasmic reticulum membrane response to food multicellular organism growth phosphate ion binding glucose homeostasis cholesterol homeostasis intracellular membrane-bounded organelle urate metabolic process phosphorylated carbohydrate dephosphorylation glucose 6-phosphate metabolic process lipid homeostasis uc002icb.1 uc002icb.2 uc002icb.3 uc002icb.4 
ENST00000253807.3 PCDHAC1 ENST00000253807.3 Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA. (from RefSeq NM_018898) ENST00000253807.1 ENST00000253807.2 NM_018898 PCDC1_HUMAN Q9H158 Q9Y5F5 Q9Y5I5 uc003lih.1 uc003lih.2 uc003lih.3 uc003lih.4 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]. 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). Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=Q9H158-1; Sequence=Displayed; Name=Short; IsoId=Q9H158-2; Sequence=VSP_000699, VSP_000700; Contains 6 cadherin domains. calcium ion binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules nervous system development membrane integral component of membrane uc003lih.1 uc003lih.2 uc003lih.3 uc003lih.4 
ENST00000253812.8 PCDHGA3 ENST00000253812.8 Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA. (from RefSeq NM_018916) ENST00000253812.1 ENST00000253812.2 ENST00000253812.3 ENST00000253812.4 ENST00000253812.5 ENST00000253812.6 ENST00000253812.7 NM_018916 PCDG3_HUMAN Q9Y5D4 Q9Y5H0 uc003ljm.1 uc003ljm.2 uc003ljm.3 uc003ljm.4 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]. 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). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y5H0-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9Y5H0-2; Sequence=VSP_008663, VSP_008664; Contains 6 cadherin domains. calcium ion binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules endosome to lysosome transport membrane integral component of membrane lipid tube assembly involved in organelle fusion uc003ljm.1 uc003ljm.2 uc003ljm.3 uc003ljm.4 
ENST00000253814.6 NDFIP1 ENST00000253814.6 Homo sapiens Nedd4 family interacting protein 1 (NDFIP1), mRNA. (from RefSeq NM_030571) B2RDB8 D3DQF0 ENST00000253814.1 ENST00000253814.2 ENST00000253814.3 ENST00000253814.4 ENST00000253814.5 N4WBP5 NFIP1_HUMAN NM_030571 PSEC0192 PSEC0223 Q658T8 Q8N2E3 Q8N2F9 Q9BT67 uc003lmi.1 uc003lmi.2 uc003lmi.3 uc003lmi.4 uc003lmi.5 uc003lmi.6 The protein encoded by this gene belongs to a small group of evolutionarily conserved proteins with three transmembrane domains. It is a potential target for ubiquitination by the Nedd4 family of proteins. This protein is thought to be part of a family of integral Golgi membrane 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 :: SRR1660809.136458.1, SRR1660803.45873.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000253814.6/ ENSP00000253814.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Activates HECT domain-containing E3 ubiquitin-protein ligases, including NEDD4 and ITCH, and consequently modulates the stability of their targets. As a result, controls many cellular processes. Prevents chronic T-helper cells-mediated inflammation by activating ITCH and thus controlling JUNB degradation (By similarity). In cortical neurons, mediates the ubiquitination of SLC11A2/DMT1 by NEDD4L, leading to down-regulation of the divalent metal transporter and protection of the cells from cobalt and iron toxicity. Modulates EGFR signaling through multiple pathways. In particular, may regulate the ratio of AKT1-to-MAPK8 signaling in response to EGF, acting on AKT1 probably through PTEN destabilization and on MAPK8 through ITCH-dependent MAP2K4 inactivation. As a result, may control cell growth rate. Forms heterodimers with NDFIP2. Interacts with several E3 ubiquitin-protein ligases, including NEDD4, NEDD4L and WWP2. Interacts with ITCH, U2SURP and WWP2 (By similarity). The interaction with NEDD4, NEDD4L and ITCH leads to relocalization of these proteins to exosomes and eventually to exosomal secretion. Interacts with SLC11A2/DMT1. Interacts with PTEN. May interact with phosphorylated EGFR. Endosome membrane; Multi-pass membrane protein. Golgi apparatus membrane (By similarity). Secreted. Note=Detected in exosomes and secreted via the exosomal pathway. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BT67-1; Sequence=Displayed; Name=2; IsoId=Q9BT67-2; Sequence=VSP_016474, VSP_016475; Note=No experimental confirmation available; Widely expressed. Higher levels are detected in cerebellum, pituitary, thalamus, kidney, liver, testis, salivary glands and placenta. Also expressed in fetal brain, kidney and lung. Increased protein expression in neuronal cells in response to Co(2+) or Fe(2+) ions. The PY (WW-binding) motifs are required for E3 ubiquitin- protein ligase binding and activation and for ubiquitination. Ubiquitinated by NEDD4 and ITCH; mono-, di- and polyubiquitinated forms are detected. Ubiquitination regulates its degradation. Undergoes transient tyrosine phosphorylation following EGF stimulation, most probably by catalyzed by SRC. Phosphorylation SRC is enhanced in the presence of NDFIP2 which may act as a scaffold to recruit SRC to NDFIP1. Golgi membrane protein binding extracellular region endosome endoplasmic reticulum Golgi apparatus ubiquitin-dependent protein catabolic process cellular iron ion homeostasis vacuolar transport endosome membrane negative regulation of gene expression membrane integral component of membrane metal ion transport cell junction dendrite positive regulation of protein ubiquitination negative regulation of transporter activity cell projection neuron projection positive regulation of I-kappaB kinase/NF-kappaB signaling synapse perinuclear region of cytoplasm WW domain binding negative regulation of protein transport uc003lmi.1 uc003lmi.2 uc003lmi.3 uc003lmi.4 uc003lmi.5 uc003lmi.6 
ENST00000253838.3 TTTY6 ENST00000253838.3 Homo sapiens testis-specific transcript, Y-linked 6 (TTTY6), long non-coding RNA. (from RefSeq NR_001527) ENST00000253838.1 ENST00000253838.2 NR_001527 uc022coj.1 uc022coj.2 There are two copies of this locus in the P3 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AF332237.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2151119 [ECO:0000348] ##Evidence-Data-END## uc022coj.1 uc022coj.2 
ENST00000253848.3 TTTY6B ENST00000253848.3 Homo sapiens testis-specific transcript, Y-linked 6B (TTTY6B), long non-coding RNA. (from RefSeq NR_002175) ENST00000253848.1 ENST00000253848.2 NR_002175 uc022cog.1 uc022cog.2 There are two copies of this locus in the P3 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AA884105.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2151119 [ECO:0000348] ##Evidence-Data-END## uc022cog.1 uc022cog.2 
ENST00000253861.5 EXOC4 ENST00000253861.5 Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA. (from RefSeq NM_021807) ENST00000253861.1 ENST00000253861.2 ENST00000253861.3 ENST00000253861.4 EXOC4_HUMAN KIAA1699 NM_021807 Q541U8 Q96A65 Q9C0G4 Q9H9K0 Q9P102 SEC8 SEC8L1 uc003vrk.1 uc003vrk.2 uc003vrk.3 uc003vrk.4 uc003vrk.5 The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane (By similarity). The exocyst complex is composed of EXOC1, EXOC2, EXOC3, EXOC4, EXOC5, EXOC6, EXOC7 and EXOC8 (By similarity). Interacts with BIRC6/bruce. Interacts with MYRIP (By similarity). Q9NR09:BIRC6; NbExp=3; IntAct=EBI-355383, EBI-1765160; Belongs to the SEC8 family. exocyst protein binding cytoplasm cytosol plasma membrane microvillus protein targeting to membrane exocytosis Golgi to plasma membrane transport vesicle docking involved in exocytosis chemical synaptic transmission protein transport membrane regulation of macroautophagy Ral GTPase binding PDZ domain binding growth cone membrane myelin sheath abaxonal region cell projection synapse protein N-terminus binding paraxial mesoderm formation vesicle tethering involved in exocytosis Flemming body uc003vrk.1 uc003vrk.2 uc003vrk.3 uc003vrk.4 uc003vrk.5 
ENST00000253925.12 PPFIA1 ENST00000253925.12 Homo sapiens PTPRF interacting protein alpha 1 (PPFIA1), transcript variant 2, mRNA. (from RefSeq NM_003626) A6NLE3 ENST00000253925.1 ENST00000253925.10 ENST00000253925.11 ENST00000253925.2 ENST00000253925.3 ENST00000253925.4 ENST00000253925.5 ENST00000253925.6 ENST00000253925.7 ENST00000253925.8 ENST00000253925.9 LIP1 LIPA1_HUMAN NM_003626 Q13135 Q13136 Q14567 Q8N4I2 uc001opo.1 uc001opo.2 uc001opo.3 uc001opo.4 uc001opo.5 The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. This protein binds to the intracellular membrane-distal phosphatase domain of tyrosine phosphatase LAR, and appears to localize LAR to cell focal adhesions. This interaction may regulate the disassembly of focal adhesion and thus help orchestrate cell-matrix interactions. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]. May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates. Forms homodimers and heterodimers with liprins-alpha and liprins-beta. Interacts with the second PTPase domain of PTPRD, PTPRF and PTPRS. Interacts with GIT1, KIF1A and GRIP1 (By similarity). Q9NS73:MBIP; NbExp=3; IntAct=EBI-745426, EBI-741953; Q14738:PPP2R5D; NbExp=2; IntAct=EBI-745426, EBI-396563; Cytoplasm. Note=Colocalizes with PTPRF at the ends of focal adhesions most proximal to the cell nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=LAR-interacting protein 1b, LIP.1b, b; IsoId=Q13136-1; Sequence=Displayed; Name=2; Synonyms=LAR-interacting protein 1a, LIP.1a, a; IsoId=Q13136-2; Sequence=VSP_009391; Note=Due to intron retention. No experimental confirmation available; Ubiquitous. The N-terminal coiled coil regions mediate homodimerization preferentially and heterodimerization type alpha/alpha. The C-terminal, non-coiled coil regions mediate heterodimerization type alpha/beta and interaction with PTPRD, PTPRF and PTPRS. Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the liprin family. Liprin-alpha subfamily. Contains 3 SAM (sterile alpha motif) domains. Sequence=BAA08353.1; Type=Frameshift; Positions=1033, 1041, 1045, 1067, 1113; protein binding cytoplasm cytosol focal adhesion cell-matrix adhesion signal transduction neurotransmitter secretion glutamate secretion presynaptic active zone negative regulation of stress fiber assembly negative regulation of protein localization to plasma membrane uc001opo.1 uc001opo.2 uc001opo.3 uc001opo.4 uc001opo.5 
ENST00000253934.9 TMEM204 ENST00000253934.9 Homo sapiens transmembrane protein 204 (TMEM204), transcript variant 2, mRNA. (from RefSeq NM_001256541) C16orf30 CLP24 D3DU76 ENST00000253934.1 ENST00000253934.2 ENST00000253934.3 ENST00000253934.4 ENST00000253934.5 ENST00000253934.6 ENST00000253934.7 ENST00000253934.8 NM_001256541 Q3KRC1 Q9BSN7 Q9H7G5 TM204_HUMAN UNQ6509/PRO21434 uc002cmc.1 uc002cmc.2 uc002cmc.3 uc002cmc.4 C16ORF30 plays a role in cell adhesion and cellular permeability at adherens junctions (Kearsey et al., 2004 [PubMed 15206924]).[supplied by OMIM, Mar 2008]. Can influence paracellular permeability. Appears to be involved in cell-cell interactions through adherens. Cell junction, adherens junction. Cell membrane; Multi-pass membrane protein. Note=Co-localizes with the beta-catenin adherins. Highly expressed in lung, heart, kidney and placenta. Lower expression in thymus, spleen, liver, testis and ovary. Expressed in endothelial and restricted epithelial cell populations. By hypoxia. Sequence=BAB14926.1; Type=Frameshift; Positions=161; lymph vessel development plasma membrane adherens junction membrane integral component of membrane cell junction regulation of vascular endothelial growth factor receptor signaling pathway smooth muscle cell differentiation uc002cmc.1 uc002cmc.2 uc002cmc.3 uc002cmc.4 
ENST00000253968.11 BARX1 ENST00000253968.11 Homo sapiens BARX homeobox 1 (BARX1), mRNA. (from RefSeq NM_021570) BARX1_HUMAN ENST00000253968.1 ENST00000253968.10 ENST00000253968.2 ENST00000253968.3 ENST00000253968.4 ENST00000253968.5 ENST00000253968.6 ENST00000253968.7 ENST00000253968.8 ENST00000253968.9 NM_021570 Q6P2R4 Q96GH8 Q9HBU1 uc010mrh.1 uc010mrh.2 uc010mrh.3 uc010mrh.4 uc010mrh.5 This gene encodes a member of the Bar subclass of homeobox transcription factors. Studies of the mouse and chick homolog suggest the encoded protein may play a role in developing teeth and craniofacial mesenchyme of neural crest origin. The protein may also be associated with differentiation of stomach epithelia. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BC064363.1, AL555424.3 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968540, SAMEA1968832 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000253968.11/ ENSP00000253968.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcription factor, which is involved in craniofacial development, in odontogenesis and in stomach organogenesis. May have a role in the differentiation of molars from incisors. Plays a role in suppressing endodermal Wnt activity (By similarity). Binds to a regulatory module of the NCAM promoter. Nucleus (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9HBU1-1; Sequence=Displayed; Name=2; IsoId=Q9HBU1-2; Sequence=VSP_034700; Widely expressed. Expressed at higher levels in testis and heart. Detected in craniofacial tissue and adult iris, but not in lymphocytes, fibroblasts, choroid retina, retinal pigment epithelium, kidney, or fetal liver. The polymorphism is not associated with Axenfeld- Reiger syndrome (ARS), iridogoniodysgenesis syndrome (IGDS) or related ocular malformations. Belongs to the BAR homeobox family. Contains 1 homeobox DNA-binding domain. Sequence=AAG23738.1; Type=Frameshift; Positions=Several; nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter cell-cell signaling tissue development anterior/posterior pattern specification negative regulation of Wnt signaling pathway epithelial cell differentiation sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter animal organ development spleen development anatomical structure development digestive system development uc010mrh.1 uc010mrh.2 uc010mrh.3 uc010mrh.4 uc010mrh.5 
ENST00000254029.8 WDR44 ENST00000254029.8 Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1, mRNA. (from RefSeq NM_019045) ENST00000254029.1 ENST00000254029.2 ENST00000254029.3 ENST00000254029.4 ENST00000254029.5 ENST00000254029.6 ENST00000254029.7 NM_019045 Q0JS52 Q0JTF3 Q5JSH2 Q5JSH3 Q6ZSC1 Q7Z365 Q7Z3P6 Q8NAU8 Q8NHU5 Q9NUV4 WDR44_HUMAN uc004eqn.1 uc004eqn.2 uc004eqn.3 uc004eqn.4 uc004eqn.5 This gene encodes a protein that interacts with the small GTPase rab11. A similar protein in rat binds the GTP-containing active form of rab11. This protein may play a role in endosome recycling. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]. Downstream effector for RAB11. May be involved in vesicle recycling (By similarity). Interacts with the GTP-bound form of RAB11 when membrane- associated. Does not bind to other Rab and Rho small G proteins (By similarity). Cytoplasm, cytosol. Cytoplasm, perinuclear region. Endosome membrane. Golgi apparatus, trans-Golgi network. Note=Colocalized with RAB11 along microtubules oriented toward lamellipodia (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q5JSH3-1; Sequence=Displayed; Name=2; IsoId=Q5JSH3-2; Sequence=VSP_021809; Note=No experimental confirmation available; Name=3; IsoId=Q5JSH3-3; Sequence=VSP_021807, VSP_021808, VSP_021810; Note=No experimental confirmation available; Phosphorylated upon DNA damage, probably by ATM or ATR. Contains 7 WD repeats. Sequence=BAA92015.1; Type=Frameshift; Positions=792; Sequence=BAC03799.1; Type=Erroneous initiation; cytoplasm endosome Golgi apparatus cytosol endosome membrane membrane Rab GTPase binding perinuclear region of cytoplasm uc004eqn.1 uc004eqn.2 uc004eqn.3 uc004eqn.4 uc004eqn.5 
ENST00000254035.9 CKMT2 ENST00000254035.9 Homo sapiens creatine kinase, mitochondrial 2 (CKMT2), transcript variant 2, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001099735) ENST00000254035.1 ENST00000254035.2 ENST00000254035.3 ENST00000254035.4 ENST00000254035.5 ENST00000254035.6 ENST00000254035.7 ENST00000254035.8 KCRS_HUMAN NM_001099735 P17540 Q6ICS8 Q8N1E1 uc003khd.1 uc003khd.2 uc003khd.3 uc003khd.4 uc003khd.5 uc003khd.6 Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80% homology with the coding exons of ubiquitous mitochondrial creatine kinase. This gene contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of these genes during mitochondrial biogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa. ATP + creatine = ADP + phosphocreatine. Exists as an octamer composed of four CKMT2 homodimers. Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side. Sarcomere-specific. Found only in heart and skeletal muscles. Mitochondrial creatine kinase binds cardiolipin. Belongs to the ATP:guanido phosphotransferase family. Contains 1 phosphagen kinase C-terminal domain. Contains 1 phosphagen kinase N-terminal domain. nucleotide binding catalytic activity creatine kinase activity ATP binding mitochondrion mitochondrial inner membrane creatine metabolic process muscle contraction membrane kinase activity phosphorylation transferase activity transferase activity, transferring phosphorus-containing groups phosphocreatine biosynthetic process uc003khd.1 uc003khd.2 uc003khd.3 uc003khd.4 uc003khd.5 uc003khd.6 
ENST00000254051.11 TNS4 ENST00000254051.11 Homo sapiens tensin 4 (TNS4), mRNA. (from RefSeq NM_032865) A6NMJ7 CTEN ENST00000254051.1 ENST00000254051.10 ENST00000254051.2 ENST00000254051.3 ENST00000254051.4 ENST00000254051.5 ENST00000254051.6 ENST00000254051.7 ENST00000254051.8 ENST00000254051.9 NM_032865 PP14434 Q71RB7 Q8IZW8 Q8WV64 Q96JV4 TENS4_HUMAN uc010cxb.1 uc010cxb.2 uc010cxb.3 uc010cxb.4 uc010cxb.5 May be involved in cell migration, cartilage development and in linking signal transduction pathways to the cytoskeleton (By similarity). May promote apoptosis, via its cleavage by caspase-3. Binds to actin filaments and interacts with phosphotyrosine-containing proteins (By similarity). Cell junction, focal adhesion. Cytoplasm, cytoskeleton. Prostate and placenta. Down regulated in prostate cancer. Proteolytically cleaved by caspase-3 during apoptosis. Contains 1 phosphatase tensin-type domain. Contains 1 SH2 domain. Sequence=AAQ15257.1; Type=Frameshift; Positions=85, 296, 472, 602; actin binding protein binding cytoplasm cytosol cytoskeleton focal adhesion apoptotic process protein localization cell junction uc010cxb.1 uc010cxb.2 uc010cxb.3 uc010cxb.4 uc010cxb.5 
ENST00000254066.10 RARA ENST00000254066.10 Homo sapiens retinoic acid receptor alpha (RARA), transcript variant 1, mRNA. (from RefSeq NM_000964) ENST00000254066.1 ENST00000254066.2 ENST00000254066.3 ENST00000254066.4 ENST00000254066.5 ENST00000254066.6 ENST00000254066.7 ENST00000254066.8 ENST00000254066.9 NM_000964 NR1B1 Q6I9R7 Q6I9R7_HUMAN hCG_2007196 uc002huk.1 uc002huk.2 uc002huk.3 uc002huk.4 This gene represents a nuclear retinoic acid receptor. The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. This gene has been implicated in regulation of development, differentiation, apoptosis, granulopoeisis, and transcription of clock genes. Translocations between this locus and several other loci have been associated with acute promyelocytic leukemia. Alternatively spliced transcript variants have been found for this locus.[provided by RefSeq, Sep 2010]. Belongs to the nuclear hormone receptor family. Contains 1 nuclear receptor DNA-binding domain. negative regulation of transcription from RNA polymerase II promoter translation repressor activity, nucleic acid binding RNA polymerase II regulatory region DNA binding ureteric bud development neural tube closure liver development glandular epithelial cell development outflow tract septum morphogenesis growth plate cartilage development DNA binding transcription factor activity, sequence-specific DNA binding steroid hormone receptor activity RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding nucleus cytoplasm cytosol regulation of transcription, DNA-templated germ cell development spermatogenesis female pregnancy transcription factor binding drug binding zinc ion binding positive regulation of cell proliferation negative regulation of cell proliferation male gonad development positive regulation of gene expression negative regulation of gene expression actin cytoskeleton negative regulation of translation hippocampus development dendrite prostate gland development regulation of granulocyte differentiation embryonic camera-type eye development regulation of myelination response to estradiol response to retinoic acid response to vitamin A response to cytokine multicellular organism growth histone deacetylase binding regulation of apoptotic process neuron projection negative regulation of apoptotic process steroid hormone mediated signaling pathway sequence-specific DNA binding transcription regulatory region DNA binding response to ethanol negative regulation of cell differentiation positive regulation of neuron differentiation negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding mRNA 5'-UTR binding regulation of synaptic plasticity retinoic acid receptor signaling pathway perinuclear region of cytoplasm ventricular cardiac muscle cell differentiation Sertoli cell fate commitment limb development face development bone development trachea cartilage development chondroblast differentiation negative regulation of cartilage development cellular response to lipopolysaccharide uc002huk.1 uc002huk.2 uc002huk.3 uc002huk.4 
ENST00000254072.7 KRTAP9-8 ENST00000254072.7 Homo sapiens keratin associated protein 9-8 (KRTAP9-8), mRNA. (from RefSeq NM_031963) ENST00000254072.1 ENST00000254072.2 ENST00000254072.3 ENST00000254072.4 ENST00000254072.5 ENST00000254072.6 KAP9.8 KRA98_HUMAN KRTAP9.8 NM_031963 Q9BYQ0 uc002hwh.1 uc002hwh.2 uc002hwh.3 uc002hwh.4 uc002hwh.5 uc002hwh.6 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript is intronless :: BC074981.2 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000254072.7/ ENSP00000254072.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins. Interacts with hair keratins. Belongs to the KRTAP type 9 family. cytosol intermediate filament keratinization keratin filament uc002hwh.1 uc002hwh.2 uc002hwh.3 uc002hwh.4 uc002hwh.5 uc002hwh.6 
ENST00000254079.9 PPP1R1B ENST00000254079.9 Homo sapiens protein phosphatase 1 regulatory inhibitor subunit 1B (PPP1R1B), transcript variant 1, mRNA. (from RefSeq NM_032192) DARPP32 ENST00000254079.1 ENST00000254079.2 ENST00000254079.3 ENST00000254079.4 ENST00000254079.5 ENST00000254079.6 ENST00000254079.7 ENST00000254079.8 NM_032192 PPR1B_HUMAN Q547V9 Q547W0 Q9H7G1 Q9UD71 uc002hrz.1 uc002hrz.2 uc002hrz.3 uc002hrz.4 uc002hrz.5 This gene encodes a bifunctional signal transduction molecule. Dopaminergic and glutamatergic receptor stimulation regulates its phosphorylation and function as a kinase or phosphatase inhibitor. As a target for dopamine, this gene may serve as a therapeutic target for neurologic and psychiatric disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. Inhibitor of protein-phosphatase 1. Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UD71-1; Sequence=Displayed; Name=2; Synonyms=t-DARPP; IsoId=Q9UD71-2; Sequence=VSP_005117; Dopamine- and cyclic AMP-regulated neuronal phosphoprotein. Phosphorylation of Thr-34 is required for activity (By similarity). Belongs to the protein phosphatase inhibitor 1 family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org//Genes/PPP1R1BID44096ch17q12.html"; response to amphetamine protein kinase inhibitor activity protein phosphatase inhibitor activity protein binding nucleus cytoplasm cytosol transcription, DNA-templated negative regulation of protein kinase activity signal transduction memory negative regulation of female receptivity locomotory behavior visual learning protein phosphatase regulator activity D1 dopamine receptor binding D2 dopamine receptor binding D3 dopamine receptor binding D4 dopamine receptor binding D5 dopamine receptor binding negative regulation of phosphoprotein phosphatase activity response to nicotine intracellular signal transduction response to cocaine neuronal cell body response to morphine dendritic spine neck dendritic spine head behavioral response to cocaine postsynapse glutamatergic synapse uc002hrz.1 uc002hrz.2 uc002hrz.3 uc002hrz.4 uc002hrz.5 
ENST00000254090.9 FMO5 ENST00000254090.9 Homo sapiens flavin containing dimethylaniline monoxygenase 5 (FMO5), transcript variant 1, mRNA. (from RefSeq NM_001461) B2RBG1 ENST00000254090.1 ENST00000254090.2 ENST00000254090.3 ENST00000254090.4 ENST00000254090.5 ENST00000254090.6 ENST00000254090.7 ENST00000254090.8 FMO5_HUMAN NM_001461 P49326 Q8IV22 uc001epi.1 uc001epi.2 uc001epi.3 uc001epi.4 uc001epi.5 Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]. In contrast with other forms of FMO it does not seem to be a drug-metabolizing enzyme. N,N-dimethylaniline + NADPH + O(2) = N,N- dimethylaniline N-oxide + NADP(+) + H(2)O. FAD. Microsome membrane. Endoplasmic reticulum membrane. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P49326-1; Sequence=Displayed; Name=2; IsoId=P49326-2; Sequence=VSP_042729, VSP_042730; Note=No experimental confirmation available; Expressed in fetal and adult liver. Belongs to the FMO family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/fmo5/"; monooxygenase activity N,N-dimethylaniline monooxygenase activity endoplasmic reticulum endoplasmic reticulum membrane cytosol biological_process membrane integral component of membrane oxidoreductase activity organelle membrane intracellular membrane-bounded organelle flavin adenine dinucleotide binding NADP binding oxidation-reduction process uc001epi.1 uc001epi.2 uc001epi.3 uc001epi.4 uc001epi.5 
ENST00000254101.4 PRKAB2 ENST00000254101.4 Homo sapiens protein kinase AMP-activated non-catalytic subunit beta 2 (PRKAB2), transcript variant 2, non-coding RNA. (from RefSeq NR_103871) A8K9V5 AAKB2_HUMAN ENST00000254101.1 ENST00000254101.2 ENST00000254101.3 NR_103871 O43741 Q5VXY0 uc001epe.1 uc001epe.2 uc001epe.3 uc001epe.4 uc001epe.5 uc001epe.6 The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]. Non-catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Beta non-catalytic subunit acts as a scaffold on which the AMPK complex assembles, via its C-terminus that bridges alpha (PRKAA1 or PRKAA2) and gamma subunits (PRKAG1, PRKAG2 or PRKAG3). AMPK is a heterotrimer of an alpha catalytic subunit (PRKAA1 or PRKAA2), a beta (PRKAB1 or PRKAB2) and a gamma non- catalytic subunits (PRKAG1, PRKAG2 or PRKAG3). Self; NbExp=2; IntAct=EBI-1053424, EBI-1053424; Q13131:PRKAA1; NbExp=5; IntAct=EBI-1053424, EBI-1181405; P54619:PRKAG1; NbExp=3; IntAct=EBI-1053424, EBI-1181439; Phosphorylated when associated with the catalytic subunit (PRKAA1 or PRKAA2). Phosphorylated by ULK1 and ULK2; leading to negatively regulate AMPK activity and suggesting the existence of a regulatory feedback loop between ULK1, ULK2 and AMPK. Belongs to the 5'-AMP-activated protein kinase beta subunit family. protein binding nucleus nucleoplasm cytoplasm cytosol protein phosphorylation lipid metabolic process fatty acid metabolic process fatty acid biosynthetic process carnitine shuttle cell cycle arrest signal transduction macroautophagy regulation of macroautophagy protein kinase binding nucleotide-activated protein kinase complex regulation of fatty acid biosynthetic process identical protein binding regulation of catalytic activity regulation of signal transduction by p53 class mediator AMP-activated protein kinase activity uc001epe.1 uc001epe.2 uc001epe.3 uc001epe.4 uc001epe.5 uc001epe.6 
ENST00000254108.12 FUS ENST00000254108.12 Homo sapiens FUS RNA binding protein (FUS), transcript variant 1, mRNA. (from RefSeq NM_004960) ENST00000254108.1 ENST00000254108.10 ENST00000254108.11 ENST00000254108.2 ENST00000254108.3 ENST00000254108.4 ENST00000254108.5 ENST00000254108.6 ENST00000254108.7 ENST00000254108.8 ENST00000254108.9 NM_004960 Q6IBQ5 Q6IBQ5_HUMAN hCG_21147 uc002ebf.1 uc002ebf.2 uc002ebf.3 uc002ebf.4 This gene encodes a multifunctional protein component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex. The hnRNP complex is involved in pre-mRNA splicing and the export of fully processed mRNA to the cytoplasm. This protein belongs to the FET family of RNA-binding proteins which have been implicated in cellular processes that include regulation of gene expression, maintenance of genomic integrity and mRNA/microRNA processing. Alternative splicing results in multiple transcript variants. Defects in this gene result in amyotrophic lateral sclerosis type 6. [provided by RefSeq, Sep 2009]. nucleic acid binding RNA binding mRNA 3'-UTR binding nucleus nucleoplasm cytoplasm polysome regulation of transcription, DNA-templated RNA splicing gene expression estrogen receptor binding dendrite myosin V binding ionotropic glutamate receptor binding neuronal cell body dendritic spine perikaryon dendritic spine head metal ion binding retinoid X receptor binding thyroid hormone receptor binding perinuclear region of cytoplasm cellular response to calcium ion uc002ebf.1 uc002ebf.2 uc002ebf.3 uc002ebf.4 
ENST00000254166.4 ZNF132 ENST00000254166.4 Homo sapiens zinc finger protein 132 (ZNF132), mRNA. (from RefSeq NM_003433) ENST00000254166.1 ENST00000254166.2 ENST00000254166.3 NM_003433 P52740 Q32MI9 ZN132_HUMAN uc002qst.1 uc002qst.2 uc002qst.3 uc002qst.4 uc002qst.5 May be involved in transcriptional regulation. Nucleus (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P52740-1; Sequence=Displayed; Name=2; IsoId=P52740-2; Sequence=VSP_035665; Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 18 C2H2-type zinc fingers. Contains 1 KRAB domain. nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated metal ion binding uc002qst.1 uc002qst.2 uc002qst.3 uc002qst.4 uc002qst.5 
ENST00000254181.9 USP29 ENST00000254181.9 Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA. (from RefSeq NM_020903) ENST00000254181.1 ENST00000254181.2 ENST00000254181.3 ENST00000254181.4 ENST00000254181.5 ENST00000254181.6 ENST00000254181.7 ENST00000254181.8 NM_020903 Q9HBJ7 UBP29_HUMAN uc002qny.1 uc002qny.2 uc002qny.3 uc002qny.4 uc002qny.5 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. G1/S transition of mitotic cell cycle cysteine-type endopeptidase activity thiol-dependent ubiquitin-specific protease activity cellular_component nucleus proteolysis ubiquitin-dependent protein catabolic process peptidase activity cysteine-type peptidase activity protein deubiquitination hydrolase activity thiol-dependent ubiquitinyl hydrolase activity uc002qny.1 uc002qny.2 uc002qny.3 uc002qny.4 uc002qny.5 
ENST00000254190.4 CHSY1 ENST00000254190.4 Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA. (from RefSeq NM_014918) CHSS1_HUMAN CHSY CSS1 ENST00000254190.1 ENST00000254190.2 ENST00000254190.3 KIAA0990 NM_014918 Q6UX38 Q7LFU5 Q86X52 Q9Y2J5 UNQ756/PRO1487 uc021sxt.1 uc021sxt.2 This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [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 :: AY358529.1, AB023207.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1966682, SAMEA1968540 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000254190.4/ ENSP00000254190.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Has both beta-1,3-glucuronic acid and beta-1,4-N- acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Involved in the negative control of osteogenesis likely through the modulation of NOTCH signaling. UDP-N-acetyl-D-galactosamine + beta-D- glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-proteoglycan = UDP + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl- (1->3)-N-acetyl-beta-D-galactosaminyl-proteoglycan. UDP-alpha-D-glucuronate + N-acetyl-beta-D- galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan = UDP + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-(1->4)- beta-D-glucuronosyl-proteoglycan. Divalent cations. Highest activities are measured with cobalt, manganese and cadmium. Binds CHPF. Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein (Probable). Secreted. Ubiquitous, with the highest levels in placenta. Detected at low levels in brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, adrenal gland, mammary gland, stomach, small intestine, lung and peripheral blood leukocytes. Defects in CHSY1 are the cause of Temtamy preaxial brachydactyly syndrome (TPBS) [MIM:605282]. A syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, talon cusps of upper central incisors, growth retardation, and bilateral symmetric digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism. Belongs to the chondroitin N- acetylgalactosaminyltransferase family. Sequence=BAA76834.2; Type=Erroneous initiation; Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; Name=Functional Glycomics Gateway - GTase; Note=Chondroitin sulfate synthase 1; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_445"; Golgi membrane chondrocyte development extracellular region Golgi apparatus acetylgalactosaminyltransferase activity proximal/distal pattern formation membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups chondroitin sulfate biosynthetic process negative regulation of ossification response to nutrient levels Golgi cisterna membrane positive regulation of smoothened signaling pathway metal ion binding glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity cartilage development sulfation bone morphogenesis uc021sxt.1 uc021sxt.2 
ENST00000254193.11 SNRPA1 ENST00000254193.11 Homo sapiens small nuclear ribonucleoprotein polypeptide A' (SNRPA1), transcript variant 1, mRNA. (from RefSeq NM_003090) B2R5I6 ENST00000254193.1 ENST00000254193.10 ENST00000254193.2 ENST00000254193.3 ENST00000254193.4 ENST00000254193.5 ENST00000254193.6 ENST00000254193.7 ENST00000254193.8 ENST00000254193.9 NM_003090 P09661 Q8TBD2 RU2A_HUMAN uc002bww.1 uc002bww.2 uc002bww.3 uc002bww.4 uc002bww.5 This protein is associated with sn-RNP U2. It helps the A' protein to bind stem loop IV of U2 snRNA. Identified in the spliceosome C complex. Found in a pre- mRNA splicing complex with SFRS4, SFRS5, SNRNP70, SNRPA1, SRRM1 and SRRM2. Found in a pre-mRNA exonic splicing enhancer (ESE) complex with SNRNP70, SNRPA1, SRRM1 and TRA2B. Nucleus. Belongs to the U2 small nuclear ribonucleoprotein A family. Contains 4 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. mRNA splicing, via spliceosome RNA binding protein binding nucleus nucleoplasm spliceosomal complex U2 snRNP mRNA processing spermatogenesis RNA splicing nuclear body nuclear speck small nuclear ribonucleoprotein complex U2 snRNA binding interleukin-12-mediated signaling pathway U2-type precatalytic spliceosome U2-type catalytic step 2 spliceosome catalytic step 2 spliceosome uc002bww.1 uc002bww.2 uc002bww.3 uc002bww.4 uc002bww.5 
ENST00000254227.4 NR0B2 ENST00000254227.4 Homo sapiens nuclear receptor subfamily 0 group B member 2 (NR0B2), mRNA. (from RefSeq NM_021969) ENST00000254227.1 ENST00000254227.2 ENST00000254227.3 NM_021969 NR0B2_HUMAN Q15466 Q5QP36 SHP uc001bnf.1 uc001bnf.2 uc001bnf.3 uc001bnf.4 uc001bnf.5 The protein encoded by this gene is an unusual orphan receptor that contains a putative ligand-binding domain but lacks a conventional DNA-binding domain. The gene product is a member of the nuclear hormone receptor family, a group of transcription factors regulated by small hydrophobic hormones, a subset of which do not have known ligands and are referred to as orphan nuclear receptors. The protein has been shown to interact with retinoid and thyroid hormone receptors, inhibiting their ligand-dependent transcriptional activation. In addition, interaction with estrogen receptors has been demonstrated, leading to inhibition of function. Studies suggest that the protein represses nuclear hormone receptor-mediated transactivation via two separate steps: competition with coactivators and the direct effects of its transcriptional repressor function. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189664.20848.1, SRR5189652.32856.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2144835 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000254227.4/ ENSP00000254227.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Acts as a transcriptional regulator. Acts as a negative regulator of receptor-dependent signaling pathways. Specifically inhibits transactivation of the nuclear receptor with whom it interacts. Inhibits transcriptional activity of NEUROD1 on E-box- containing promoter by interfering with the coactivation function of the p300/CBP-mediated trancription complex for NEUROD1. Interacts with RARA, RXRA, THRB, NR5A1, NR5A2, NR1I3, PPARA, PPARG and EID1. May also interact with HNF4A (By similarity). Heterodimer; efficient DNA binding requires dimerization with another bHLH protein. Interacts (via N-terminus) with NEUROD1 (via N-terminus an C-terminus). Interacts with ID2. Q96EB6:SIRT1; NbExp=6; IntAct=EBI-3910729, EBI-1802965; Nucleus. Cytoplasm. Note=Colocalizes with NEUROD1 in the nucleus. Liver. Low levels of expression were detected in heart and pancreas. Defects in NR0B2 may be associated with obesity (OBESITY) [MIM:601665]. It is a condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat. Belongs to the nuclear hormone receptor family. NR0 subfamily. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding steroid hormone receptor activity transcription corepressor activity protein binding nucleus nucleoplasm cytoplasm regulation of transcription, DNA-templated transcription initiation from RNA polymerase II promoter Notch signaling pathway circadian rhythm transcription factor binding cholesterol metabolic process response to glucose positive regulation of gene expression negative regulation of gene expression protein domain specific binding animal organ regeneration positive regulation of insulin secretion circadian regulation of gene expression macromolecular complex protein homodimerization activity retinoic acid receptor binding peroxisome proliferator activated receptor binding steroid hormone mediated signaling pathway negative regulation of sequence-specific DNA binding transcription factor activity macromolecular complex binding negative regulation of transcription, DNA-templated retinoid X receptor binding thyroid hormone receptor binding rhythmic process uc001bnf.1 uc001bnf.2 uc001bnf.3 uc001bnf.4 uc001bnf.5 
ENST00000254250.7 THAP1 ENST00000254250.7 Homo sapiens THAP domain containing 1 (THAP1), transcript variant 1, mRNA. (from RefSeq NM_018105) A6NCB6 D3DSY5 ENST00000254250.1 ENST00000254250.2 ENST00000254250.3 ENST00000254250.4 ENST00000254250.5 ENST00000254250.6 NM_018105 Q53FQ1 Q6IA99 Q9NVV9 THAP1_HUMAN uc003xpk.1 uc003xpk.2 uc003xpk.3 uc003xpk.4 The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. DNA-binding transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle progression. Specifically binds the 5'-[AT]NTNN[GT]GGCA[AGT]-3' core DNA sequence and acts by modulating expression of pRB-E2F cell-cycle target genes, including RRM1. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. May also have pro-apoptopic activity by potentiating both serum-withdrawal and TNF-induced apoptosis. Interacts with PAWR. Component of a THAP1/THAP3-HCFC1-OGT complex that contains, either THAP1 or THAP3, HCFC1 and OGT. Interacts with OGT. Interacts (via the HBM) with HCFC1 (via the Kelch-repeat domain); the interaction recruits HCFC1 to the RRM1 promoter. Nucleus, nucleoplasm. Nucleus, PML body. Highly expressed in heart, skeletal muscle, kidney and liver. Weaker expression in brain and placenta. Defects in THAP1 are the cause of dystonia type 6 (DYT6) [MIM:602629]. DYT6 is a primary torsion dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 6 is characterized by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions. Belongs to the THAP1 family. Contains 1 THAP-type zinc finger. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding fibrillar center endothelial cell proliferation nucleic acid binding DNA binding protein binding nucleus nucleoplasm transcription, DNA-templated regulation of transcription, DNA-templated cell cycle regulation of mitotic cell cycle zinc ion binding PML body identical protein binding protein homodimerization activity intracellular membrane-bounded organelle sequence-specific DNA binding metal ion binding uc003xpk.1 uc003xpk.2 uc003xpk.3 uc003xpk.4 
ENST00000254260.8 RHPN2 ENST00000254260.8 Homo sapiens rhophilin Rho GTPase binding protein 2 (RHPN2), mRNA. (from RefSeq NM_033103) ENST00000254260.1 ENST00000254260.2 ENST00000254260.3 ENST00000254260.4 ENST00000254260.5 ENST00000254260.6 ENST00000254260.7 NM_033103 Q8IUC4 Q8N3T7 Q8N9D6 Q8NE33 Q96RU1 RHPN2_HUMAN uc002nuf.1 uc002nuf.2 uc002nuf.3 uc002nuf.4 uc002nuf.5 This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. [provided by RefSeq, Apr 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC036447.2, SRR1660807.247652.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000254260.8/ ENSP00000254260.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds specifically to GTP-Rho. May function in a Rho pathway to limit stress fiber formation and/or increase the turnover of F-actin structures in the absence of high levels of RhoA activity. Interacts with GTP-bound RhoA and RhoB. Interacts with both GTP- and GDP-bound RhoA. According to PubMed:12473120, it does not interact with RhoA. Interacts with KRT18. Cytoplasm, perinuclear region. Widely expressed. Highly expressed in prostate, trachea, stomach, colon, thyroid and pancreas. Expressed at lower level in brain, spinal cord, kidney, placenta and liver. By thyrotropin (TSH). Regulated by the cAMP pathway. Belongs to the RHPN family. Contains 1 BRO1 domain. Contains 1 PDZ (DHR) domain. Contains 1 REM (Hr1) repeat. cytoplasm cytosol signal transduction perinuclear region of cytoplasm uc002nuf.1 uc002nuf.2 uc002nuf.3 uc002nuf.4 uc002nuf.5 
ENST00000254286.9 ACTR10 ENST00000254286.9 Homo sapiens actin related protein 10 (ACTR10), mRNA. (from RefSeq NM_018477) ACTR11 ARP10_HUMAN ARP11 ENST00000254286.1 ENST00000254286.2 ENST00000254286.3 ENST00000254286.4 ENST00000254286.5 ENST00000254286.6 ENST00000254286.7 ENST00000254286.8 NM_018477 Q9H9Y5 Q9NWY2 Q9NZ32 uc001xdf.1 uc001xdf.2 uc001xdf.3 uc001xdf.4 uc001xdf.5 Cytoplasm, cytoskeleton (By similarity). Belongs to the actin family. establishment of mitotic spindle orientation protein binding extracellular region cytoplasm centrosome cytosol cytoskeleton dynactin complex ER to Golgi vesicle-mediated transport microtubule-based movement antigen processing and presentation of exogenous peptide antigen via MHC class II nuclear migration along microtubule azurophil granule lumen neutrophil degranulation retrograde axonal transport of mitochondrion cell cortex region axon cytoplasm ficolin-1-rich granule lumen uc001xdf.1 uc001xdf.2 uc001xdf.3 uc001xdf.4 uc001xdf.5 
ENST00000254301.14 LGALS3 ENST00000254301.14 Homo sapiens galectin 3 (LGALS3), transcript variant 1, mRNA. (from RefSeq NM_002306) B2RC38 ENST00000254301.1 ENST00000254301.10 ENST00000254301.11 ENST00000254301.12 ENST00000254301.13 ENST00000254301.2 ENST00000254301.3 ENST00000254301.4 ENST00000254301.5 ENST00000254301.6 ENST00000254301.7 ENST00000254301.8 ENST00000254301.9 LEG3_HUMAN MAC2 NM_002306 P17931 Q16005 Q6IBA7 Q96J47 uc001xbr.1 uc001xbr.2 uc001xbr.3 uc001xbr.4 uc001xbr.5 This gene encodes a member of the galectin family of carbohydrate binding proteins. Members of this protein family have an affinity for beta-galactosides. The encoded protein is characterized by an N-terminal proline-rich tandem repeat domain and a single C-terminal carbohydrate recognition domain. This protein can self-associate through the N-terminal domain allowing it to bind to multivalent saccharide ligands. This protein localizes to the extracellular matrix, the cytoplasm and the nucleus. This protein plays a role in numerous cellular functions including apoptosis, innate immunity, cell adhesion and T-cell regulation. The protein exhibits antimicrobial activity against bacteria and fungi. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2014]. Galactose-specific lectin which binds IgE. May mediate with the alpha-3, beta-1 integrin the stimulation by CSPG4 of endothelial cells migration. Together with DMBT1, required for terminal differentiation of columnar epithelial cells during early embryogenesis (By similarity). In the nucleus: acts as a pre-mRNA splicing factor. Involved in acute inflammatory responses including neutrophil activation and adhesion, chemoattraction of monocytes macrophages, opsonization of apoptotic neutrophils, and activation of mast cells. Probably forms homo- or heterodimers. Interacts with DMBT1 (By similarity). Forms a complex with the ITGA3, ITGB1 and CSPG4. Interacts with LGALS3BP, LYPD3, CYHR1 and UACA. Cytoplasm. Nucleus. Secreted. Note=Secreted by a non-classical secretory pathway and associates with the cell surface. A major expression is found in the colonic epithelium. It is also abundant in the activated macrophages. Contains 1 galectin domain. Name=Functional Glycomics Gateway - Glycan Binding; Note=Galectin-3; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Stlect_00118"; immunological synapse immune system process monocyte chemotaxis RNA binding protein phosphatase inhibitor activity protein binding extracellular region extracellular space nucleus spliceosomal complex cytoplasm mitochondrial inner membrane plasma membrane mRNA processing RNA splicing cell surface membrane IgE binding protein phosphatase binding cell differentiation carbohydrate binding neutrophil chemotaxis secretory granule membrane epithelial cell differentiation killing of cells of other organism chemoattractant activity regulation of T cell proliferation laminin binding neutrophil degranulation other organism cell innate immune response regulation of myeloid cell differentiation negative regulation of endocytosis eosinophil chemotaxis macrophage chemotaxis negative regulation of T cell receptor signaling pathway positive chemotaxis extracellular exosome regulation of T cell apoptotic process oligosaccharide binding mononuclear cell migration positive regulation of mononuclear cell migration positive regulation of protein homodimerization activity positive regulation of calcium ion import ficolin-1-rich granule membrane regulation of extrinsic apoptotic signaling pathway via death domain receptors positive regulation of protein localization to plasma membrane negative regulation of protein tyrosine phosphatase activity negative regulation of immunological synapse formation negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell negative regulation of extrinsic apoptotic signaling pathway positive regulation of dendritic cell differentiation uc001xbr.1 uc001xbr.2 uc001xbr.3 uc001xbr.4 uc001xbr.5 
ENST00000254321.10 ZNF700 ENST00000254321.10 Homo sapiens zinc finger protein 700 (ZNF700), transcript variant 1, mRNA. (from RefSeq NM_144566) B9EGU4 ENST00000254321.1 ENST00000254321.2 ENST00000254321.3 ENST00000254321.4 ENST00000254321.5 ENST00000254321.6 ENST00000254321.7 ENST00000254321.8 ENST00000254321.9 NM_144566 Q9H0M5 ZN700_HUMAN uc002msu.1 uc002msu.2 uc002msu.3 uc002msu.4 uc002msu.5 uc002msu.6 May be involved in transcriptional regulation. Nucleus (Potential). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 18 C2H2-type zinc fingers. Contains 1 KRAB domain. nucleic acid binding DNA binding nucleus regulation of transcription, DNA-templated metal ion binding uc002msu.1 uc002msu.2 uc002msu.3 uc002msu.4 uc002msu.5 uc002msu.6 
ENST00000254325.9 RFX1 ENST00000254325.9 Homo sapiens regulatory factor X1 (RFX1), mRNA. (from RefSeq NM_002918) ENST00000254325.1 ENST00000254325.2 ENST00000254325.3 ENST00000254325.4 ENST00000254325.5 ENST00000254325.6 ENST00000254325.7 ENST00000254325.8 NM_002918 P22670 RFX1_HUMAN uc002mxv.1 uc002mxv.2 uc002mxv.3 uc002mxv.4 uc002mxv.5 This gene encodes a member of the regulatory factor X (RFX) family of transcription factors, which are characterized by a winged-helix DNA-binding domain. The encoded transcription factor contains an N-terminal activation domain and a C-terminal repression domain, and may activate or repress target gene expression depending on cellular context. This transcription factor has been shown to regulate a wide variety of genes involved in immunity and cancer, including the MHC class II genes and genes that may be involved in cancer progression. This gene exhibits altered expression in glioblastoma and the autoimmune disease systemic lupus erythematosis (SLE). [provided by RefSeq, Jul 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC049826.1, X58964.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000254325.9/ ENSP00000254325.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Regulatory factor essential for MHC class II genes expression. Binds to the X boxes of MHC class II genes. Also binds to an inverted repeat (ENH1) required for hepatitis B virus genes expression and to the most upstream element (alpha) of the RPL30 promoter. Binds DNA as a homodimer. Nucleus. Belongs to the RFX family. Contains 1 RFX-type winged-helix 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 DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter immune response intracellular membrane-bounded organelle uc002mxv.1 uc002mxv.2 uc002mxv.3 uc002mxv.4 uc002mxv.5 
ENST00000254337.11 DCAF15 ENST00000254337.11 Homo sapiens DDB1 and CUL4 associated factor 15 (DCAF15), mRNA. (from RefSeq NM_138353) B3KS86 C19orf72 DCA15_HUMAN ENST00000254337.1 ENST00000254337.10 ENST00000254337.2 ENST00000254337.3 ENST00000254337.4 ENST00000254337.5 ENST00000254337.6 ENST00000254337.7 ENST00000254337.8 ENST00000254337.9 NM_138353 Q66K64 Q96DW0 Q9BU31 uc002mxt.1 uc002mxt.2 uc002mxt.3 uc002mxt.4 uc002mxt.5 May be involved in ubiquitination and degradation through a DBB1-CUL4 E3 protein-ubiquitin ligase. Protein modification; protein ubiquitination. Interacts with DDB1 and CUL4A. Sequence=AAH13280.2; Type=Frameshift; Positions=89; protein binding protein ubiquitination macromolecular complex Cul4-RING E3 ubiquitin ligase complex uc002mxt.1 uc002mxt.2 uc002mxt.3 uc002mxt.4 uc002mxt.5 
ENST00000254436.8 TRIM21 ENST00000254436.8 Homo sapiens tripartite motif containing 21 (TRIM21), mRNA. (from RefSeq NM_003141) ENST00000254436.1 ENST00000254436.2 ENST00000254436.3 ENST00000254436.4 ENST00000254436.5 ENST00000254436.6 ENST00000254436.7 NM_003141 P19474 Q5XPV5 Q96RF8 RNF81 RO52 RO52_HUMAN SSA1 uc001lyy.1 uc001lyy.2 uc001lyy.3 This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The encoded protein is part of the RoSSA ribonucleoprotein, which includes a single polypeptide and one of four small RNA molecules. The RoSSA particle localizes to both the cytoplasm and the nucleus. RoSSA interacts with autoantigens in patients with Sjogren syndrome and systemic lupus erythematosus. Alternatively spliced transcript variants for 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 :: SRR5189655.120910.1, SRR1163655.499605.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000254436.8/ ENSP00000254436.7 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## E3 ubiquitin-protein ligase whose activity is dependent on E2 enzymes, UBE2D1, UBE2D2, UBE2E1 and UBE2E2. Forms a ubiquitin ligase complex in cooperation with the E2 UBE2D2 that is used not only for the ubiquitination of USP4 and IKBKB but also for its self-ubiquitination. Component of cullin-RING-based SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complexes such as SCF(SKP2)-like complexes. A TRIM21-containing SCF(SKP2)- like complex is shown to mediate ubiquitination of CDKN1B ('Thr- 187' phosphorylated-form), thereby promoting its degradation by the proteasome. Monoubiquitinates IKBKB that will negatively regulates Tax-induced NF-kappa-B signaling. Negatively regulates IFN-beta production post-pathogen recognition by polyubiquitin- mediated degradation of IRF3. Mediates the ubiquitin-mediated proteasomal degradation of IgG1 heavy chain, which is linked to the VCP-mediated ER-associated degradation (ERAD) pathway. Promotes IRF8 ubiquitination, which enhanced the ability of IRF8 to stimulate cytokine genes transcription in macrophages. Plays a role in the regulation of the cell cycle progression. Enhances the decapping activity of DCP2. Exists as a ribonucleoprotein particle present in all mammalian cells studied and composed of a single polypeptide and one of four small RNA molecules. At least two isoforms are present in nucleated and red blood cells, and tissue specific differences in RO/SSA proteins have been identified. The common feature of these proteins is their ability to bind HY RNAs.2. Protein modification; protein ubiquitination. Interacts (via C-terminus) with IRF8 (via C-terminus) (By similarity). Component of a SCF(SKP2)-like complex containing CUL1, SKP1, TRIM21 and SKP2. Interacts with CALR, CUL1, FBXW11, HSPA5, IKBKB, IRF3, SKP1 and VCP. Interacts with SKP2; the interaction with SKP2 does not depend on an intact F-box domain. Interacts (via N-terminus and C-terminus) with DCP2 (via N- terminus and C-terminus). Q13107-1:USP4; NbExp=3; IntAct=EBI-81290, EBI-723305; Cytoplasm. Nucleus. Cytoplasm, P-body. Note=Enters the nucleus upon exposure to nitric oxide. Localizes to small dot- or rod-like structures in the cytoplasm, called cytoplasmic bodies (P-body) that are located underneath the plasma membrane and also diffusely in the cytoplasm and are highly motil in cells. Cytoplasmic bodies are located along the microtubules and do not share the same cytoplasmic bodies with TRIM5. Colocalizes with DCP2 in P-body. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Ro52alpha, 52alpha; IsoId=P19474-1; Sequence=Displayed; Name=2; Synonyms=Ro52beta, 52beta; IsoId=P19474-2; Sequence=VSP_039627; Note=No experimental confirmation available; Isoform 1 and isoform 2 are expressed in fetal and adult heart and fetal lung. Up-regulated by isoform 2 of XBP1. The coiled-coil is necessary for the cytoplasmic localization. The B30.2/SPRY domain is necessary for the cytoplasmic localization, the interaction with IRF3 and for the IRF3-driven interferon beta promoter activity. The RING-type zinc finger is necessary for ubiquitination and for the IRF3-driven interferon beta promoter activity. Interacts with SKP2 and CUL1 in a RING finger-independent manner. Autoubiquitinated; does not lead to its proteasomal degradation. Deubiquitinated by USP4; leading to its stabilization. Belongs to the TRIM/RBCC family. Contains 1 B box-type zinc finger. Contains 1 B30.2/SPRY domain. Contains 1 RING-type zinc finger. protein polyubiquitination P-body DNA binding RNA binding ubiquitin-protein transferase activity protein binding nucleus nucleoplasm cytoplasm autophagosome cytosol protein monoubiquitination cell cycle zinc ion binding positive regulation of autophagy protein ubiquitination transferase activity cytoplasmic vesicle protein destabilization negative regulation of NF-kappaB transcription factor activity regulation of type I interferon production negative regulation of viral transcription response to interferon-gamma identical protein binding innate immune response positive regulation of cell cycle positive regulation of viral entry into host cell metal ion binding positive regulation of sequence-specific DNA binding transcription factor activity protein autoubiquitination interferon-gamma-mediated signaling pathway protein trimerization negative regulation of protein deubiquitination negative regulation of viral release from host cell ribonucleoprotein complex SCF ubiquitin ligase complex uc001lyy.1 uc001lyy.2 uc001lyy.3 
ENST00000254480.10 SMARCC1 ENST00000254480.10 Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 (SMARCC1), mRNA. (from RefSeq NM_003074) BAF155 ENST00000254480.1 ENST00000254480.2 ENST00000254480.3 ENST00000254480.4 ENST00000254480.5 ENST00000254480.6 ENST00000254480.7 ENST00000254480.8 ENST00000254480.9 NM_003074 Q17RS0 Q6P172 Q8IWH2 Q92922 SMRC1_HUMAN uc003crq.1 uc003crq.2 uc003crq.3 uc003crq.4 The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660803.95065.1, SRR1660809.251712.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000254480.10/ ENSP00000254480.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). May stimulate the ATPase activity of the catalytic subunit of the complex. Also involved in vitamin D-coupled transcription regulation via its association with the WINAC complex, a chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required for the ligand-bound VDR- mediated transrepression of the CYP27B1 gene. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). 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 (By similarity). Component of 6 multiprotein chromatin-remodeling complexes: Swi/Snf-A (BAF), Swi/Snf-B (PBAF), Brm, Brg1(I), WINAC and Brg1(II). Each of the five complexes contains a catalytic subunit (either SMARCA4 or SMARCA2), and at least SMARCE1, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCC2 and SMARCB1. Other subunits specific to each of the complexes may also be present. Component of the BAF complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2, SMARCA4/BRG1, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. May also interact with the SIN3A histone deacetylase transcription repressor complex in conjunction with SMARCA2 and SMARCA4. The minimal complex composed of SMARCC1 and SMARCA4 seems to be able to associate with cyclin such as CCNE1 or transcription factors such as KLF1 or GATA1. Component of the WINAC complex, at least composed of SMARCA2, SMARCA4, SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCE1, ACTL6A, BAZ1B/WSTF, ARID1A, SUPT16H, CHAF1A and TOP2B. Interacts with NR3C1 and SMARD1. Component of neural progenitors-specific chromatin remodeling complex (npBAF 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, PHF10/BAF45A, ACTL6A/BAF53A and actin. 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). Interacts with TRIP12; leading to disrupt interaction between TRIP12 and SMARCE1 and prevent SMARCE1 ubiquitination. P51532:SMARCA4; NbExp=9; IntAct=EBI-355653, EBI-302489; Q96GM5:SMARCD1; NbExp=2; IntAct=EBI-355653, EBI-358489; Nucleus. Expressed in brain, heart, muscle, placenta, lung, liver, muscle, kidney and pancreas. Phosphorylated on undefined residues at the G2/M transition by ERK1 and other kinases. This may contribute to cell cycle specific inactivation of remodeling complexes containing the phosphorylated protein. Belongs to the SMARCC family. Contains 1 SANT domain. Contains 1 SWIRM domain. Sequence=AAH39843.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH65253.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; nuclear chromatin XY body DNA binding chromatin binding transcription coactivator activity protein binding nucleus nucleoplasm cytoplasm chromatin organization nucleosome disassembly chromatin remodeling regulation of transcription from RNA polymerase II promoter nervous system development insulin receptor signaling pathway animal organ morphogenesis SWI/SNF complex prostate gland development negative regulation of proteasomal ubiquitin-dependent protein catabolic process macromolecular complex histone binding ATP-dependent chromatin remodeling positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein N-terminus binding npBAF complex nBAF complex RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II distal enhancer sequence-specific DNA binding nucleosomal DNA binding uc003crq.1 uc003crq.2 uc003crq.3 uc003crq.4 
ENST00000254488.7 SLC6A11 ENST00000254488.7 Homo sapiens solute carrier family 6 member 11 (SLC6A11), transcript variant 1, mRNA. (from RefSeq NM_014229) B2R6U6 ENST00000254488.1 ENST00000254488.2 ENST00000254488.3 ENST00000254488.4 ENST00000254488.5 ENST00000254488.6 GABT3 GAT3 NM_014229 P48066 S6A11_HUMAN uc003bvz.1 uc003bvz.2 uc003bvz.3 uc003bvz.4 uc003bvz.5 The protein encoded by this gene is a sodium-dependent transporter that uptakes gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, which ends the GABA neurotransmission. Defects in this gene may result in epilepsy, behavioral problems, or intellectual problems. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]. Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals. Membrane; Multi-pass membrane protein. Widespread distribution in the brain. Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A11 subfamily. neurotransmitter uptake neurotransmitter:sodium symporter activity gamma-aminobutyric acid:sodium symporter activity cytoplasm plasma membrane integral component of plasma membrane neurotransmitter transport brain development symporter activity gamma-aminobutyric acid transport membrane integral component of membrane neurotransmitter binding response to drug cell projection neuron projection synapse transmembrane transport neurotransmitter reuptake GABA-ergic synapse integral component of postsynaptic membrane integral component of presynaptic membrane uc003bvz.1 uc003bvz.2 uc003bvz.3 uc003bvz.4 uc003bvz.5 
ENST00000254508.7 NUP210 ENST00000254508.7 Homo sapiens nucleoporin 210 (NUP210), mRNA. (from RefSeq NM_024923) A6NN56 ENST00000254508.1 ENST00000254508.2 ENST00000254508.3 ENST00000254508.4 ENST00000254508.5 ENST00000254508.6 KIAA0906 NM_024923 O94980 PO210_HUMAN PSEC0245 Q6NXG6 Q8NBJ1 Q8TEM1 Q9H6C8 Q9UFP3 uc003bxv.1 uc003bxv.2 uc003bxv.3 uc003bxv.4 The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a membrane-spanning glycoprotein that is a major component of the nuclear pore complex. Multiple pseudogenes related to this gene are located on chromosome 3. [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## RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology MANE Ensembl match :: ENST00000254508.7/ ENSP00000254508.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Nucleoporin essential for nuclear pore assembly and fusion, nuclear pore spacing, as well as structural integrity. Forms dimers and possibly higher-order oligomers (By similarity). Nucleus, nuclear pore complex. Nucleus membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8TEM1-1; Sequence=Displayed; Name=2; IsoId=Q8TEM1-2; Sequence=VSP_018567, VSP_018568; Ubiquitous expression, with highest levels in lung, liver, pancreas, testis, and ovary, intermediate levels in brain, kidney, and spleen, and lowest levels in heart and skeletal muscle. N-glycosylated, but not all potential glycosylation sites may be used. Contains high-mannose type oligosaccharides (By similarity). Phosphorylated at Ser-1881 in mitosis specifically; not phosphorylated in interphase (By similarity). Recognized by antinuclear autoantibodies in primary biliary cirrhosis. Knockdown of NUP210 causes nuclear membranes to accumulate aberrant structures termed twinned and fusion-arrested membranes and nuclear pore complex to cluster. Induces cell death and chromatin disruptions. Belongs to the NUP210 family. Sequence=BAB15332.1; Type=Erroneous initiation; Sequence=BAC11688.1; Type=Erroneous initiation; nucleus nuclear envelope nuclear pore endoplasmic reticulum endoplasmic reticulum membrane regulation of glycolytic process mRNA export from nucleus tRNA export from nucleus protein transport membrane integral component of membrane viral process protein sumoylation viral transcription nuclear membrane host cell protein dimerization activity mRNA transport regulation of gene silencing by miRNA intracellular transport of virus regulation of cellular response to heat uc003bxv.1 uc003bxv.2 uc003bxv.3 uc003bxv.4 
ENST00000254521.8 HSD17B7 ENST00000254521.8 Homo sapiens hydroxysteroid 17-beta dehydrogenase 7 (HSD17B7), transcript variant 1, mRNA. (from RefSeq NM_016371) DHB7_HUMAN ENST00000254521.1 ENST00000254521.2 ENST00000254521.3 ENST00000254521.4 ENST00000254521.5 ENST00000254521.6 ENST00000254521.7 NM_016371 P56937 Q5T246 Q7Z4V9 Q8WWS2 Q9UF00 UNQ2563/PRO6243 uc001gci.1 uc001gci.2 uc001gci.3 uc001gci.4 uc001gci.5 HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010]. Responsible for the reduction of the keto group on the C-3 of sterols. 4-alpha-methyl-5-alpha-cholest-7-en-3-beta-ol + NADP(+) = 4-alpha-methyl-5-alpha-cholest-7-en-3-one + NADPH. Estradiol-17-beta + NAD(P)(+) = estrone + NAD(P)H. Steroid biosynthesis; estrogen biosynthesis. Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 5/6. Cell membrane; Single-pass membrane protein. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P56937-1; Sequence=Displayed; Name=2; IsoId=P56937-2; Sequence=VSP_006029; Name=3; IsoId=P56937-3; Sequence=VSP_012766; Highly expressed in adrenal gland, liver, lung and thymus. Expressed in breast, ovaries, pituitary gland, pregnant uterus, prostate, kidney, lymph node, small intestine, spinal cord and trachea. Weakly expressed in all other tissues tested. Isoform 3 is expressed in eye ciliary epithelial cells and neuroendocrine cells. Phosphorylated. Belongs to the short-chain dehydrogenases/reductases (SDR) family. ERG27 subfamily. 3-keto sterol reductase activity estradiol 17-beta-dehydrogenase activity endoplasmic reticulum endoplasmic reticulum membrane plasma membrane lipid metabolic process steroid biosynthetic process cholesterol biosynthetic process estrogen biosynthetic process nervous system development membrane integral component of membrane oxidoreductase activity cell differentiation embryonic skeletal system development oxidation-reduction process uc001gci.1 uc001gci.2 uc001gci.3 uc001gci.4 uc001gci.5 
ENST00000254528.4 EMILIN2 ENST00000254528.4 Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA. (from RefSeq NM_032048) B2RMY3 EMIL2_HUMAN ENST00000254528.1 ENST00000254528.2 ENST00000254528.3 NM_032048 Q8NBH3 Q96JQ4 Q9BXX0 uc002kln.1 uc002kln.2 uc002kln.3 uc002kln.4 uc002kln.5 May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved not only in the formation of the elastic fiber, but also in the processes that regulate vessel assembly. Has cell adhesive capacity. Homotrimer associated through a moderately stable interaction of the C-terminal globular C1q domains, allowing the nucleation of the triple helix and then a further quaternary assembly to higher-order polymers via intermolecular disulfide bonds (By similarity). Interacts with EMILIN1. Secreted, extracellular space, extracellular matrix. Note=Found mainly at the interface between amorphous elastin and microfibrils. Highest levels are present in fetal heart and adult lung. Intermediate levels in peripheral leukocytes, placenta, and spinal cord and low expression in fetal brain, spleen, thymus, and lung and in adult heart, aorta, testis, bone marrow, small intestine, thymus, lymph node, and appendix. Contains 1 C1q domain. Contains 1 collagen-like domain. Contains 1 EMI domain. protein binding extracellular region collagen trimer cell adhesion biological_process extracellular matrix constituent conferring elasticity uc002kln.1 uc002kln.2 uc002kln.3 uc002kln.4 uc002kln.5 
ENST00000254579.11 DNHD1 ENST00000254579.11 Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA. (from RefSeq NM_144666) C11orf47 CCDC35 DHCD1 DNHD1L DNHD1_HUMAN ENST00000254579.1 ENST00000254579.10 ENST00000254579.2 ENST00000254579.3 ENST00000254579.4 ENST00000254579.5 ENST00000254579.6 ENST00000254579.7 ENST00000254579.8 ENST00000254579.9 NM_144666 Q2NKK8 Q6UWI9 Q8NAA2 Q8TEE6 Q96M86 Q9NSZ9 UNQ5781/PRO12970 uc001mdw.1 uc001mdw.2 uc001mdw.3 uc001mdw.4 uc001mdw.5 uc001mdw.6 Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96M86-3; Sequence=Displayed; Name=2; IsoId=Q96M86-4; Sequence=VSP_040683, VSP_040684; Name=3; IsoId=Q96M86-5; Sequence=VSP_040682, VSP_040683, VSP_040684; Note=No experimental confirmation available; Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the dynein heavy chain family. Sequence=AAQ89130.1; Type=Frameshift; Positions=637; Sequence=BAB85004.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=CAB70845.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=EAW68692.1; Type=Erroneous gene model prediction; microtubule motor activity ATP binding axoneme microtubule-based movement ATP-dependent microtubule motor activity, minus-end-directed dynein complex dynein intermediate chain binding dynein light intermediate chain binding extracellular exosome uc001mdw.1 uc001mdw.2 uc001mdw.3 uc001mdw.4 uc001mdw.5 uc001mdw.6 
ENST00000254584.6 ARFIP2 ENST00000254584.6 Putative target protein of ADP-ribosylation factor. Involved in membrane ruffling. (from UniProt P53365) AK026390 ARFP2_HUMAN B4E306 D3DQT5 ENST00000254584.1 ENST00000254584.2 ENST00000254584.3 ENST00000254584.4 ENST00000254584.5 P53365 POR1 uc001mdk.1 uc001mdk.2 uc001mdk.3 uc001mdk.4 Putative target protein of ADP-ribosylation factor. Involved in membrane ruffling. Interacts with RAC1 by binding directly to it. Specifically binds to GTP-bound ARF1 and ARF6, but binds to RAC1.GTP and RAC1.GDP with similar affinities. Directly interacts with ARL1 GTP-bound form; this interaction leads to a > 4-fold increase in the amount of ARL1-bound GTP at steady state level. P62330:ARF6; NbExp=4; IntAct=EBI-638194, EBI-638181; P63000:RAC1; NbExp=9; IntAct=EBI-638194, EBI-413628; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P53365-1; Sequence=Displayed; Name=2; IsoId=P53365-2; Sequence=VSP_042524; Note=No experimental confirmation available; Contains 1 AH domain. ruffle protein binding GTP binding phospholipid binding cytoplasm cytosol plasma membrane cell cortex intracellular protein transport small GTPase mediated signal transduction protein domain specific binding lamellipodium assembly actin cytoskeleton organization GTP-dependent protein binding ruffle organization trans-Golgi network membrane identical protein binding cadherin binding Rac GTPase binding phosphatidylinositol-4-phosphate binding uc001mdk.1 uc001mdk.2 uc001mdk.3 uc001mdk.4 
ENST00000254605.11 RRP8 ENST00000254605.11 Homo sapiens ribosomal RNA processing 8 (RRP8), mRNA. (from RefSeq NM_015324) ENST00000254605.1 ENST00000254605.10 ENST00000254605.2 ENST00000254605.3 ENST00000254605.4 ENST00000254605.5 ENST00000254605.6 ENST00000254605.7 ENST00000254605.8 ENST00000254605.9 KIAA0409 NML NM_015324 O43159 Q7KZ78 Q9BVM6 RRP8_HUMAN hucep-1 uc001med.1 uc001med.2 uc001med.3 uc001med.4 uc001med.5 Essential 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. In the complex, RRP8 binds to H3K9me2 and probably acts as a methyltransferase. Its substrates are however unknown. Component of the eNoSC complex, composed of SIRT1, SUV39H1 and RRP8. Q96EB6:SIRT1; NbExp=3; IntAct=EBI-2008793, EBI-1802965; O43463:SUV39H1; NbExp=3; IntAct=EBI-2008793, EBI-349968; Nucleus, nucleolus. Note=Localizes at rDNA locus. Belongs to the methyltransferase superfamily. RRP8 family. Sequence=BAA23705.1; Type=Erroneous initiation; chromatin silencing at rDNA RNA binding protein binding nucleus nucleoplasm chromatin silencing complex nucleolus cytosol plasma membrane chromatin organization rRNA processing methyltransferase activity S-adenosylmethionine-dependent methyltransferase activity transferase activity methylation rDNA heterochromatin methylated histone binding cellular response to glucose starvation regulation of transcription by glucose positive regulation of cell cycle arrest intrinsic apoptotic signaling pathway by p53 class mediator uc001med.1 uc001med.2 uc001med.3 uc001med.4 uc001med.5 
ENST00000254616.11 TIMM10B ENST00000254616.11 Homo sapiens translocase of inner mitochondrial membrane 10B (TIMM10B), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_012192) ENST00000254616.1 ENST00000254616.10 ENST00000254616.2 ENST00000254616.3 ENST00000254616.4 ENST00000254616.5 ENST00000254616.6 ENST00000254616.7 ENST00000254616.8 ENST00000254616.9 FXC1 NM_012192 Q96FF3 Q9Y5J6 TIM9B TIM9B_HUMAN TIMM9B uc001mdn.1 uc001mdn.2 uc001mdn.3 uc001mdn.4 uc001mdn.5 uc001mdn.6 FXC1, or TIMM10B, belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004]. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.76223.1, SRR1660805.155022.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: PMID: 14726512; reported by MitoCarta MANE Ensembl match :: ENST00000254616.11/ ENSP00000254616.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. The TIM22 complex forms a twin- pore translocase that uses the membrane potential as external driving force. In the TIM22 complex, it may act as a docking point for the soluble 70 kDa complex that guides the target proteins in transit through the aqueous mitochondrial intermembrane space. Component of the TIM22 complex, whose core is composed of TIMM22, associated with peripheral protein FXC1/TIM10B and the 70 kDa heterohexamer. In most cases, the 70 kDa complex is composed of TIMM9 and TIMM10. Also forms a complex composed of TIMM9, TIMM10/TIM10A and FXC1/TIM10B. Mitochondrion inner membrane; Peripheral membrane protein. 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 FXC1/TIM10B 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. protein binding mitochondrion mitochondrial inner membrane mitochondrial intermembrane space protein targeting to mitochondrion cell-matrix adhesion protein transport membrane mitochondrial intermembrane space protein transporter complex mitochondrial inner membrane protein insertion complex metal ion binding uc001mdn.1 uc001mdn.2 uc001mdn.3 uc001mdn.4 uc001mdn.5 uc001mdn.6 
ENST00000254624.10 EFR3A ENST00000254624.10 Homo sapiens EFR3 homolog A (EFR3A), transcript variant 9, non-coding RNA. (from RefSeq NR_136616) A7MD19 EFR3A_HUMAN ENST00000254624.1 ENST00000254624.2 ENST00000254624.3 ENST00000254624.4 ENST00000254624.5 ENST00000254624.6 ENST00000254624.7 ENST00000254624.8 ENST00000254624.9 KIAA0143 NR_136616 Q14156 Q2VPK2 Q63HL7 Q68DX1 Q6IQ18 uc003yte.1 uc003yte.2 uc003yte.3 uc003yte.4 uc003yte.5 The protein encoded by this gene is part of a complex that plays a role in maintaining an active pool of phosphatidylinositol 4-kinase (PI4K) at the plasma membrane. This protein is thought to be a peripheral membrane protein that associates with the plasma membrane through palmitoylation. Studies indicate that this gene product plays a role in controlling G protein-coupled receptor (GPCR) activity by affecting receptor phosphorylation. Whole exome sequencing studies have implicated mutations in this gene with autism spectrum disorders. [provided by RefSeq, Apr 2016]. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.196488.1, SRR1660805.130951.1 [ECO:0000332] ##Evidence-Data-END## Cell membrane (By similarity). Note=Localizes to plasma membrane (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q14156-1; Sequence=Displayed; Name=2; IsoId=Q14156-2; Sequence=VSP_022217; Note=No experimental confirmation available; Name=3; IsoId=Q14156-3; Sequence=VSP_022218; Note=No experimental confirmation available; Belongs to the EFR3 family. Sequence=AAH71611.1; Type=Erroneous initiation; Sequence=AAI08668.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAI08668.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAA09764.1; Type=Erroneous initiation; cytoplasm cytosol plasma membrane membrane phosphatidylinositol phosphorylation protein localization to plasma membrane uc003yte.1 uc003yte.2 uc003yte.3 uc003yte.4 uc003yte.5 
ENST00000254627.4 OC90 ENST00000254627.4 Homo sapiens otoconin 90 (OC90), mRNA. (from RefSeq NM_001080399) B4DNG8 ENST00000254627.1 ENST00000254627.2 ENST00000254627.3 NM_001080399 OC90_HUMAN PLA2L Q02509 uc011lix.1 uc011lix.2 It is unlikely that this protein has phospholipase A2 activity. Interacts with OTOL1 (By similarity). Secreted (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q02509-1; Sequence=Displayed; Name=2; IsoId=Q02509-2; Sequence=VSP_040320; Consists of 3 PA2-type domains. Belongs to the phospholipase A2 family. Sequence=CAA78662.1; Type=Erroneous initiation; Note=Translation N-terminally extended; molecular_function phospholipase A2 activity calcium ion binding phospholipid binding cellular_component extracellular region phospholipid metabolic process biological_process lipid catabolic process extracellular matrix otolith mineralization metal ion binding calcium-dependent phospholipase A2 activity arachidonic acid secretion uc011lix.1 uc011lix.2 
ENST00000254630.12 PTCD3 ENST00000254630.12 Homo sapiens pentatricopeptide repeat domain 3 (PTCD3), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_017952) A6NHD2 D6W5M1 ENST00000254630.1 ENST00000254630.10 ENST00000254630.11 ENST00000254630.2 ENST00000254630.3 ENST00000254630.4 ENST00000254630.5 ENST00000254630.6 ENST00000254630.7 ENST00000254630.8 ENST00000254630.9 NM_017952 PTCD3_HUMAN Q597H0 Q658Y9 Q96EY7 Q9BUZ8 Q9NWL0 TRG15 uc002sqw.1 uc002sqw.2 uc002sqw.3 Mitochondrial RNA-binding protein that has a role in mitochondrial translation. Associated with the 12S mitochondrial rRNA (12S mt-rRNA). Associated with the small subunit of the mitochondrial ribosome. Mitochondrion. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96EY7-1; Sequence=Displayed; Name=2; IsoId=Q96EY7-2; Sequence=VSP_028191, VSP_028192; Note=No experimental confirmation available; Abundant in testes, skeletal muscle and heart tissue. Belongs to the PTCD3 family. Contains 10 PPR (pentatricopeptide) repeats. RNA binding protein binding nucleoplasm mitochondrion mitochondrial inner membrane cytosol ribosome plasma membrane regulation of translation rRNA binding mitochondrial translation ribosomal small subunit binding mitochondrial translational elongation mitochondrial translational termination uc002sqw.1 uc002sqw.2 uc002sqw.3 
ENST00000254654.8 ILKAP ENST00000254654.8 Homo sapiens ILK associated serine/threonine phosphatase (ILKAP), mRNA. (from RefSeq NM_030768) B3KM39 ENST00000254654.1 ENST00000254654.2 ENST00000254654.3 ENST00000254654.4 ENST00000254654.5 ENST00000254654.6 ENST00000254654.7 ILKAP_HUMAN NM_030768 Q9H0C8 uc002vxv.1 uc002vxv.2 uc002vxv.3 uc002vxv.4 uc002vxv.5 The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signaling, and regulate the kinase activity of ILK. Through the interaction with ILK, this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta), and thus participate in Wnt signaling 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 :: AK001043.1, BC006576.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000254654.8/ ENSP00000254654.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Protein phosphatase that may play a role in regulation of cell cycle progression via dephosphorylation of its substrates whose appropriate phosphorylation states might be crucial for cell proliferation. Selectively associates with integrin linked kinase (ILK), to modulate cell adhesion and growth factor signaling. Inhibits the ILK-GSK3B signaling axis and may play an important role in inhibiting oncogenic transformation. A phosphoprotein + H(2)O = a protein + phosphate. Binds 2 magnesium or manganese ions per subunit (By similarity). Inhibited rather than stimulated by magnesium. Interacts with ILK. Specific association with ILK is independent of the catalytic activity of either partner. Q13418:ILK; NbExp=3; IntAct=EBI-2620298, EBI-747644; Cytoplasm. Widely expressed. Highest levels expressed in striated muscle. Much lower levels evident in various smooth muscle tissues. Belongs to the PP2C family. Contains 1 PP2C-like domain. catalytic activity phosphoprotein phosphatase activity protein serine/threonine phosphatase activity magnesium-dependent protein serine/threonine phosphatase activity protein binding nucleus nucleoplasm cytoplasm cytosol protein dephosphorylation hydrolase activity cation binding metal ion binding uc002vxv.1 uc002vxv.2 uc002vxv.3 uc002vxv.4 uc002vxv.5 
ENST00000254657.8 PER2 ENST00000254657.8 Homo sapiens period circadian regulator 2 (PER2), mRNA. (from RefSeq NM_022817) A2I2P7 ENST00000254657.1 ENST00000254657.2 ENST00000254657.3 ENST00000254657.4 ENST00000254657.5 ENST00000254657.6 ENST00000254657.7 KIAA0347 NM_022817 O15055 PER2_HUMAN Q4ZG49 Q9UQ45 uc002vyc.1 uc002vyc.2 uc002vyc.3 uc002vyc.4 uc002vyc.5 This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. 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 may increase the risk of getting certain cancers and have been linked to sleep disorders. [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 :: AB002345.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000254657.8/ ENSP00000254657.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Component of the circadian clock mechanism which is essential for generating circadian rhythms. Negative element in the circadian transcriptional loop. Influences clock function by interacting with other circadian regulatory proteins and transporting them to the nucleus. Negatively regulates CLOCK|NPAS2-BMAL1|BMAL2-induced transactivation (By similarity). Homodimer. Component of the circadian core oscillator, which includes the CRY proteins, CLOCK or NPAS2, BMAL1 or BMAL2, CSNK1D and/or CSNK1E, TIMELESS, and the PER proteins. Interacts directly with PER1 and PER3, and through a C-terminal domain, with CRY1 and CRY2. Interaction with CSNK1D or CSNK1E promotes nuclear location of PER proteins. Interacts, via its second PAS domain, with TIMELESS in vitro. Interacts with NFIL3 (By similarity). Nucleus (By similarity). Cytoplasm (By similarity). Note=Mainly nuclear. Nucleocytoplasmic shuttling is effected by interaction with other circadian core oscillator proteins and/or by phosphorylation. Retention of PER1 in the cytoplasm occurs through PER1-PER2 heterodimer formation or by interaction with CSNK1E and/or phosphorylation which appears to mask the PER nuclear localization signal. Also translocated to the nucleus by CRY1 or CRY2 (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O15055-1; Sequence=Displayed; Name=2; Synonyms=PER2S; IsoId=O15055-2; Sequence=VSP_021653, VSP_021654; Note=No experimental confirmation available; Widely expressed. Found in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. High levels in skeletal muscle and pancreas. Low level in lung. Serum-induced levels in fibroblasts show circadian oscillations. Maximum levels after 1 hour stimulation, minimum levels after 12 hours. Another peak is then observed after 24 hours. Phosphorylated by CSNK1E and CSNK1D. Phosphorylation results in PER2 protein degradation. Defects in PER2 are a cause of familial advanced sleep- phase syndrome (FASPS) [MIM:604348]. FASPS is characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms. Contains 1 PAC (PAS-associated C-terminal) domain. Contains 2 PAS (PER-ARNT-SIM) domains. Sequence=BAA20804.2; Type=Erroneous initiation; negative regulation of transcription from RNA polymerase II promoter transcription regulatory region sequence-specific DNA binding transcription corepressor binding response to ischemia transcription coactivator activity protein binding nucleus nucleolus cytoplasm glycogen biosynthetic process gluconeogenesis fatty acid metabolic process circadian rhythm transcription factor binding response to light stimulus regulation of vasoconstriction lactate biosynthetic process negative regulation of protein ubiquitination circadian regulation of gene expression regulation of circadian rhythm negative regulation of circadian rhythm entrainment of circadian clock by photoperiod negative regulation of transcription, DNA-templated perinuclear region of cytoplasm rhythmic process regulation of neurogenesis regulation of insulin secretion white fat cell differentiation regulation of cell cycle regulation of glutamate uptake involved in transmission of nerve impulse negative regulation of fat cell proliferation histone H3 deacetylation circadian regulation of translation positive regulation of nucleic acid-templated transcription negative regulation of transcription regulatory region DNA binding uc002vyc.1 uc002vyc.2 uc002vyc.3 uc002vyc.4 uc002vyc.5 
ENST00000254663.12 SCLY ENST00000254663.12 Homo sapiens selenocysteine lyase (SCLY), mRNA. (from RefSeq NM_016510) B9A068 ENST00000254663.1 ENST00000254663.10 ENST00000254663.11 ENST00000254663.2 ENST00000254663.3 ENST00000254663.4 ENST00000254663.5 ENST00000254663.6 ENST00000254663.7 ENST00000254663.8 ENST00000254663.9 NM_016510 Q53SN1 Q53SN8 Q7L670 Q96I15 Q9NVT7 Q9NZR7 SCL SCLY_HUMAN uc010fyv.1 uc010fyv.2 uc010fyv.3 uc010fyv.4 uc010fyv.5 uc010fyv.6 Selenocysteine lyase (SCLY; EC 4.4.1.16) catalyzes the pyridoxal 5-prime phosphate-dependent conversion of L-selenocysteine to L-alanine and elemental selenium (Mihara et al., 2000 [PubMed 10692412]).[supplied by OMIM, Mar 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1050589.1, SRR1163655.520968.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: lack of evidence for use of upstream AUG MANE Ensembl match :: ENST00000254663.12/ ENSP00000254663.7 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Catalyzes the decomposition of L-selenocysteine to L- alanine and elemental selenium (By similarity). L-selenocysteine + reduced acceptor = selenide + L-alanine + acceptor. Pyridoxal phosphate. Homodimer (By similarity). Cytoplasm, cytosol (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96I15-1; Sequence=Displayed; Name=2; IsoId=Q96I15-2; Sequence=VSP_030854; Up-regulated in acute glomerulonephritis. Regulated by JUN/AP-1. Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. Sequence=BAA91659.1; Type=Erroneous initiation; selenium compound metabolic process catalytic activity protein binding cytoplasm cytosol cellular amino acid metabolic process selenocysteine lyase activity transferase activity lyase activity uc010fyv.1 uc010fyv.2 uc010fyv.3 uc010fyv.4 uc010fyv.5 uc010fyv.6 
ENST00000254691.10 CARD6 ENST00000254691.10 Homo sapiens caspase recruitment domain family member 6 (CARD6), mRNA. (from RefSeq NM_032587) CARD6_HUMAN ENST00000254691.1 ENST00000254691.2 ENST00000254691.3 ENST00000254691.4 ENST00000254691.5 ENST00000254691.6 ENST00000254691.7 ENST00000254691.8 ENST00000254691.9 NM_032587 Q52LR2 Q9BX69 uc003jmg.1 uc003jmg.2 uc003jmg.3 uc003jmg.4 uc003jmg.5 This gene encodes a protein that contains a caspase recruitment domain (CARD), an antiparallel six-helical bundle that mediates homotypic protein-protein interactions. The encoded protein is a microtubule-associated protein that has been shown to interact with receptor-interacting protein kinases and positively modulate signal transduction pathways converging on activation of the inducible transcription factor NF-kB. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AF356193.1, SRR1660807.65126.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000254691.10/ ENSP00000254691.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## May be involved in apoptosis. Contains 1 CARD domain. protein binding apoptotic process regulation of apoptotic process uc003jmg.1 uc003jmg.2 uc003jmg.3 uc003jmg.4 uc003jmg.5 
ENST00000254695.13 RAP1GAP2 ENST00000254695.13 Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA. (from RefSeq NM_015085) B2RTY5 ENST00000254695.1 ENST00000254695.10 ENST00000254695.11 ENST00000254695.12 ENST00000254695.2 ENST00000254695.3 ENST00000254695.4 ENST00000254695.5 ENST00000254695.6 ENST00000254695.7 ENST00000254695.8 ENST00000254695.9 GARNL4 KIAA1039 NM_015085 Q684P4 Q684P5 Q6AI00 Q6ZVF0 Q9UPW2 RAP1GA2 RPGP2_HUMAN uc010ckd.1 uc010ckd.2 uc010ckd.3 uc010ckd.4 uc010ckd.5 This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the putatively inactive GDP-bound state. Cytoplasm. Cytoplasm, perinuclear region. Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=Rap1GAP2b; IsoId=Q684P5-1; Sequence=Displayed; Name=2; Synonyms=Rap1GAP2a; IsoId=Q684P5-2; Sequence=VSP_029889; Name=3; Synonyms=Rap1GAP2c; IsoId=Q684P5-3; Sequence=VSP_029888; Isoform 1 and isoform 2 are expressed in platelets with isoform 2 being the predominant form. Expressed in lymphocytes, heart, testis and pancreas. In vitro phosphorylated by cGMP-dependent protein kinase 1 (cGKI) at Ser-7; the phosphorylation probably does not regulate GAP activity. Contains 1 Rap-GAP domain. GTPase activator activity protein binding cytoplasm centrosome cytosol plasma membrane regulation of cell size negative regulation of neuron projection development nuclear membrane neuron projection positive regulation of GTPase activity perinuclear region of cytoplasm regulation of small GTPase mediated signal transduction uc010ckd.1 uc010ckd.2 uc010ckd.3 uc010ckd.4 uc010ckd.5 
ENST00000254718.9 MYBBP1A ENST00000254718.9 Homo sapiens MYB binding protein 1a (MYBBP1A), transcript variant 2, mRNA. (from RefSeq NM_014520) ENST00000254718.1 ENST00000254718.2 ENST00000254718.3 ENST00000254718.4 ENST00000254718.5 ENST00000254718.6 ENST00000254718.7 ENST00000254718.8 MBB1A_HUMAN NM_014520 P160 Q86VM3 Q9BQG0 Q9BW49 Q9P0V5 Q9UF99 uc002fyb.1 uc002fyb.2 uc002fyb.3 uc002fyb.4 uc002fyb.5 uc002fyb.6 This gene encodes a nucleolar transcriptional regulator that was first identified by its ability to bind specifically to the Myb proto-oncogene protein. The encoded protein is thought to play a role in many cellular processes including response to nucleolar stress, tumor suppression and synthesis of ribosomal DNA. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. May activate or repress transcription via interactions with sequence specific DNA-binding proteins. Repression may be mediated at least in part by histone deacetylase activity (HDAC activity) (By similarity). Binds to and represses JUN and MYB via the leucine zipper regions present in these proteins. Also binds to and represses PPARGC1A: this interaction is abrogated when PPARGC1A is phosphorylated by MAPK1/ERK. Binds to and stimulates transcription by AHR. Binds to KPNA2. Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21 (By similarity). Cytoplasm. Nucleus. Nucleus, nucleolus. Note=Shuttles between the nucleus and cytoplasm. Nuclear import may be mediated by KPNA2, while export appears to depend partially on XPO1/CRM1 (By similarity). Predominantly nucleolar. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BQG0-1; Sequence=Displayed; Name=2; IsoId=Q9BQG0-2; Sequence=VSP_014786; Note=May be due to competing donor and acceptor splice sites; Sequence=CAB66530.1; Type=Erroneous initiation; osteoblast differentiation DNA binding transcription corepressor activity RNA binding nucleus nucleoplasm nucleolus cytoplasm regulation of transcription, DNA-templated transcription factor binding membrane respiratory electron transport chain circadian regulation of gene expression cellular response to glucose starvation ribosome biogenesis NLS-dependent protein nuclear import complex intracellular membrane-bounded organelle sequence-specific DNA binding positive regulation of gene expression, epigenetic negative regulation of transcription, DNA-templated rhythmic process E-box binding positive regulation of cell cycle arrest intrinsic apoptotic signaling pathway by p53 class mediator positive regulation of anoikis uc002fyb.1 uc002fyb.2 uc002fyb.3 uc002fyb.4 uc002fyb.5 uc002fyb.6 
ENST00000254719.10 RPA1 ENST00000254719.10 Homo sapiens replication protein A1 (RPA1), transcript variant 1, mRNA. (from RefSeq NM_002945) A8K0Y9 ENST00000254719.1 ENST00000254719.2 ENST00000254719.3 ENST00000254719.4 ENST00000254719.5 ENST00000254719.6 ENST00000254719.7 ENST00000254719.8 ENST00000254719.9 NM_002945 P27694 Q59ES9 REPA1 RFA1_HUMAN RPA70 uc002fto.1 uc002fto.2 uc002fto.3 uc002fto.4 This gene encodes the largest subunit of the heterotrimeric Replication Protein A (RPA) complex, which binds to single-stranded DNA (ssDNA), forming a nucleoprotein complex that plays an important role in DNA metabolism, being involved in DNA replication, repair, recombination, telomere maintenance, and co-ordinating the cellular response to DNA damage through activation of the ataxia telangiectasia and Rad3-related protein (ATR) kinase. The nucleoprotein complex protects the single-stranded DNA from nucleases, prevents formation of secondary structures that would interfere with repair, and co-ordinates the recruitment and departure of different genome maintenance factors. This subunit contains four oligonucleotide/oligosaccharide-binding (OB) domains, though the majority of ssDNA binding occurs in two of these domains. The heterotrimeric complex has two different modes of ssDNA binding, a low-affinity and high-affinity mode, determined by which ssDNA binding domains are utilized. The different binding modes differ in the length of DNA bound and in the proteins with which it interacts, thereby playing a role in regulating different genomic maintenance pathways. [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 :: SRR1803613.56295.1, SRR1803615.2999.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000254719.10/ ENSP00000254719.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Plays an essential role in several cellular processes in DNA metabolism including replication, recombination and DNA repair. Binds and subsequently stabilizes single-stranded DNA intermediates and thus prevents complementary DNA from reannealing. Functions as component of the alternative replication protein A complex (aRPA). aRPA binds single-stranded DNA and probably plays a role in DNA repair; it does not support chromosomal DNA replication and cell cycle progression through S- phase. In vitro, aRPA cannot promote efficient priming by DNA polymerase alpha but supports DNA polymerase delta synthesis in the presence of PCNA and replication factor C (RFC), the dual incision/excision reaction of nucleotide excision repair and RAD51-dependent strand exchange. Heterotrimer composed of RPA1, RPA2 and RPA3 (canonical replication protein A complex). Component of the alternative replication protein A complex (aRPA) composed of RPA1, RPA3 and RPA4. The DNA-binding activity may reside exclusively on the RPA1 subunit. Interacts with RIPK1 and XPA. Interacts with RPA4. Interacts with the polymerase alpha subunit POLA1/p180; this interaction stabilizes the replicative complex and reduces the misincorporation rate of DNA polymerase alpha by acting as a fidelity clamp. Interacts with RAD51 and SENP6 to regulate DNA repair. Interacts with HELB; this interaction promotes HELB recruitment to chromatin following DNA damage. P54132:BLM; NbExp=3; IntAct=EBI-621389, EBI-621372; P15927:RPA2; NbExp=4; IntAct=EBI-621389, EBI-621404; P35244:RPA3; NbExp=4; IntAct=EBI-621389, EBI-621428; Q14191:WRN; NbExp=8; IntAct=EBI-621389, EBI-368417; Nucleus. Phosphorylated upon DNA damage, probably by ATM or ATR. Sumoylated on lysine residues Lys-449 and Lys-577, with Lys- 449 being the major site. Sumoylation promotes recruitment of RAD51 to the DNA damage foci to initiate DNA repair through homologous recombination. Desumoylated by SENP6. Belongs to the replication factor A protein 1 family. Sequence=BAD92969.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/rpa1/"; G1/S transition of mitotic cell cycle telomere maintenance double-strand break repair via homologous recombination nuclear chromosome, telomeric region nucleic acid binding DNA binding damaged DNA binding single-stranded DNA binding protein binding nucleus nucleoplasm DNA replication factor A complex DNA replication DNA-dependent DNA replication DNA unwinding involved in DNA replication DNA repair transcription-coupled nucleotide-excision repair base-excision repair nucleotide-excision repair nucleotide-excision repair, preincision complex stabilization nucleotide-excision repair, preincision complex assembly nucleotide-excision repair, DNA incision, 3'-to lesion nucleotide-excision repair, DNA incision, 5'-to lesion nucleotide-excision repair, DNA gap filling mismatch repair DNA recombination cellular response to DNA damage stimulus telomere maintenance via telomerase PML body translesion synthesis telomere maintenance via semi-conservative replication nucleotide-excision repair, DNA incision protein localization to chromosome interstrand cross-link repair error-prone translesion synthesis DNA damage response, detection of DNA damage single-stranded telomeric DNA binding sequence-specific DNA binding metal ion binding meiotic cell cycle error-free translesion synthesis G-rich strand telomeric DNA binding regulation of cellular response to heat regulation of signal transduction by p53 class mediator uc002fto.1 uc002fto.2 uc002fto.3 uc002fto.4 
ENST00000254722.9 SERPINF1 ENST00000254722.9 Homo sapiens serpin family F member 1 (SERPINF1), transcript variant 1, mRNA. (from RefSeq NM_002615) ENST00000254722.1 ENST00000254722.2 ENST00000254722.3 ENST00000254722.4 ENST00000254722.5 ENST00000254722.6 ENST00000254722.7 ENST00000254722.8 F1T092 NM_002615 P36955 PEDF PEDF_HUMAN PIG35 Q13236 Q2TU83 Q96CT1 Q96R01 Q9BWA4 uc002ftl.1 uc002ftl.2 uc002ftl.3 uc002ftl.4 uc002ftl.5 This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells. Mutations in this gene were found in individuals with osteogenesis imperfecta, type VI. [provided by RefSeq, Aug 2016]. Neurotrophic protein; induces extensive neuronal differentiation in retinoblastoma cells. Potent inhibitor of angiogenesis. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity. Secreted. Melanosome. Note=Enriched in stage I melanosomes. Retinal pigment epithelial cells and blood plasma. Expressed in quiescent cells. The N-terminal (AA 44-121) exhibits neurite outgrowth- inducing activity. The C-terminal exposed loop (AA 382-418) is essential for serpin activity. The N-terminus is blocked. Extracellular phosphorylation enhances antiangiogenic activity. N- and O-glycosylated. O-glycosylated with a core 1 or possibly core 8 glycan. Defects in SERPINF1 are the cause of osteogenesis imperfecta type 12 (OI12) [MIM:613982]. OI12 is a connective tissue disorder characterized by bone fragility, low bone mass, and recurrent fractures. OI12 is characterized by features compatible with osteogenesis imperfecta type III in the Sillence classification. Patients have normal grayish sclerae and fractures of long bones and severe vertebral compression fractures, with resulting deformities observed as early as the first year of life. Belongs to the serpin family. Sequence=AAA84914.1; Type=Frameshift; Positions=356; Sequence=AAA93524.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; kidney development serine-type endopeptidase inhibitor activity protein binding extracellular region basement membrane extracellular space aging short-term memory response to acidic pH negative regulation of endothelial cell migration negative regulation of gene expression negative regulation of endopeptidase activity positive regulation of neuron projection development negative regulation of angiogenesis axon melanosome ovulation cycle neuronal cell body axon hillock response to arsenic-containing substance perinuclear region of cytoplasm negative regulation of inflammatory response positive regulation of neurogenesis retina development in camera-type eye negative regulation of epithelial cell proliferation involved in prostate gland development extracellular exosome cellular response to cobalt ion cellular response to retinoic acid cellular response to glucose stimulus cellular response to dexamethasone stimulus negative regulation of neuron death uc002ftl.1 uc002ftl.2 uc002ftl.3 uc002ftl.4 uc002ftl.5 
ENST00000254730.11 EEFSEC ENST00000254730.11 Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA specific (EEFSEC), mRNA. (from RefSeq NM_021937) ENST00000254730.1 ENST00000254730.10 ENST00000254730.2 ENST00000254730.3 ENST00000254730.4 ENST00000254730.5 ENST00000254730.6 ENST00000254730.7 ENST00000254730.8 ENST00000254730.9 NM_021937 P57772 SELB SELB_HUMAN uc003eki.1 uc003eki.2 uc003eki.3 uc003eki.4 uc003eki.5 Translation factor necessary for the incorporation of selenocysteine into proteins. It probably replaces EF-Tu for the insertion of selenocysteine directed by the UGA codon. SelB binds GTP and GDP. Cytoplasm (Potential). Nucleus (Potential). Belongs to the GTP-binding elongation factor family. SelB subfamily. tRNA binding nucleotide binding selenocysteine incorporation translation elongation factor activity GTPase activity GTP binding nucleus cytoplasm translation translational elongation selenocysteine insertion sequence binding ribonucleoprotein complex binding ribonucleoprotein complex uc003eki.1 uc003eki.2 uc003eki.3 uc003eki.4 uc003eki.5 
ENST00000254759.8 COQ3 ENST00000254759.8 Homo sapiens coenzyme Q3, methyltransferase (COQ3), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_017421) B3KPX0 COQ3_HUMAN ENST00000254759.1 ENST00000254759.2 ENST00000254759.3 ENST00000254759.4 ENST00000254759.5 ENST00000254759.6 ENST00000254759.7 NM_017421 Q5T061 Q6P4F0 Q8IXG6 Q96BG1 Q9H0N1 Q9NZJ6 UG0215E05 uc003ppk.1 uc003ppk.2 uc003ppk.3 uc003ppk.4 uc003ppk.5 Ubiquinone, also known as coenzyme Q, or Q, is a critical component of the electron transport pathways of both eukaryotes and prokaryotes (Jonassen and Clarke, 2000 [PubMed 10777520]). This lipid consists of a hydrophobic isoprenoid tail and a quinone head group. The tail varies in length depending on the organism, but its purpose is to anchor coenzyme Q to the membrane. The quinone head group is responsible for the activity of coenzyme Q in the respiratory chain. The S. cerevisiae COQ3 gene encodes an O-methyltransferase required for 2 steps in the biosynthetic pathway of coenzyme Q. This enzyme methylates an early coenzyme Q intermediate, 3,4-dihydroxy-5-polyprenylbenzoic acid, as well as the final intermediate in the pathway, converting demethyl-ubiquinone to coenzyme Q. The COQ3 gene product is also capable of methylating the distinct prokaryotic early intermediate 2-hydroxy-6-polyprenyl phenol.[supplied by OMIM, Mar 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR5189658.79932.1, AK056955.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000254759.8/ ENSP00000254759.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## S-adenosyl-L-methionine + 3,4-dihydroxy-5-all- trans-polyprenylbenzoate = S-adenosyl-L-homocysteine + 3-methoxy- 4-hydroxy-5-all-trans-polyprenylbenzoate. S-adenosyl-L-methionine + 3- demethylubiquinone-n = S-adenosyl-L-homocysteine + ubiquinone-n. S-adenosyl-L-methionine + 3-(all-trans- polyprenyl)benzene-1,2-diol = S-adenosyl-L-homocysteine + 2- methoxy-6-(all-trans-polyprenyl)phenol. Cofactor biosynthesis; ubiquinone biosynthesis. Mitochondrion matrix (Probable). Belongs to the methyltransferase superfamily. UbiG/COQ3 family. Sequence=AAF66826.1; Type=Frameshift; Positions=16, 18, 22, 26, 44, 49, 60, 363, 364; hexaprenyldihydroxybenzoate methyltransferase activity protein binding mitochondrion mitochondrial inner membrane mitochondrial matrix glycerol metabolic process ubiquinone biosynthetic process methyltransferase activity O-methyltransferase activity 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity 3-demethylubiquinone-9 3-O-methyltransferase activity regulation of ubiquinone biosynthetic process membrane transferase activity extrinsic component of mitochondrial inner membrane methylation decaprenyldihydroxybenzoate methyltransferase activity 3-demethylubiquinone-10 3-O-methyltransferase activity 3,4-dihydroxy-5-polyprenylbenzoic acid O-methyltransferase activity uc003ppk.1 uc003ppk.2 uc003ppk.3 uc003ppk.4 uc003ppk.5 
ENST00000254765.4 POPDC3 ENST00000254765.4 Homo sapiens popeye domain containing 3 (POPDC3), transcript variant 1, mRNA. (from RefSeq NM_022361) B2RA98 ENST00000254765.1 ENST00000254765.2 ENST00000254765.3 NM_022361 POP3 POPD3_HUMAN Q5T3Y8 Q8TBW6 Q9HBV1 uc003prb.1 uc003prb.2 uc003prb.3 uc003prb.4 uc003prb.5 This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in these tissues during development. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2008]. May play an important role in heart development. Membrane; Multi-pass membrane protein (Potential). Expressed predominantly in skeletal muscle and detected in heart. Belongs to the popeye family. nucleotide binding molecular_function heart development skeletal muscle tissue development biological_process membrane integral component of membrane cAMP binding sarcolemma regulation of membrane potential striated muscle cell differentiation uc003prb.1 uc003prb.2 uc003prb.3 uc003prb.4 uc003prb.5 
ENST00000254770.3 LANCL2 ENST00000254770.3 Homo sapiens LanC like 2 (LANCL2), mRNA. (from RefSeq NM_018697) B2R8D4 ENST00000254770.1 ENST00000254770.2 GPR69B LANC2_HUMAN NM_018697 Q6NSL4 Q8TCQ3 Q9BSR1 Q9NS86 TASP uc003tqp.1 uc003tqp.2 uc003tqp.3 uc003tqp.4 Necessary for abscisic acid (ABA) binding on the cell membrane and activation of the ABA signaling pathway in granulocytes. Interacts with an array of inositol phospholipids such as phosphatidylinositol 3-phosphate (PI3P), phosphatidylinositol 4- phosphate (PI4P) and phosphatidylinositol 5-phosphate (PI5P). PIP- binding enhances membrane association. Nucleus. Cytoplasm. Cell membrane. Note=Localizes to the juxta-nuclear vesicles. Associates with the cortical actin cytoskeleton. Cholesterol depletion by methyl-beta- cyclodextrin causes partial dissociation from the cell membrane in vitro and an enhanced cell detachment from the matrix in vivo. Membrane-association is important for the increased cellular sensitivity to an anticancer drug (adriamycin). Expressed in brain and testis. Myristoylated. Essential for membrane association. Its exogenous expression in a sarcoma cell line decreases the expression of ABCB1 (P-glycoprotein 1) and increases cellular sensitivity to an anticancer drug (adriamycin). Belongs to the LanC-like protein family. catalytic activity protein binding ATP binding GTP binding nucleus cytoplasm cytosol plasma membrane positive regulation of abscisic acid-activated signaling pathway phosphatidylinositol-5-phosphate binding membrane cortical actin cytoskeleton phosphatidylinositol-3-phosphate binding negative regulation of transcription, DNA-templated phosphatidylinositol-4-phosphate binding uc003tqp.1 uc003tqp.2 uc003tqp.3 uc003tqp.4 
ENST00000254799.11 GRSF1 ENST00000254799.11 Homo sapiens G-rich RNA sequence binding factor 1 (GRSF1), transcript variant 1, mRNA. (from RefSeq NM_002092) B3KPW0 ENST00000254799.1 ENST00000254799.10 ENST00000254799.2 ENST00000254799.3 ENST00000254799.4 ENST00000254799.5 ENST00000254799.6 ENST00000254799.7 ENST00000254799.8 ENST00000254799.9 GRSF1_HUMAN NM_002092 Q12849 Q4W5S5 Q6ZST3 Q8IWD6 Q8NBD2 uc010iia.1 uc010iia.2 uc010iia.3 The protein encoded by this gene is a cellular protein that binds RNAs containing the G-rich element. The protein is localized in the cytoplasm, and has been shown to stimulate translation of viral mRNAs in vitro. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Binds RNAs containing the 14 base G-rich element. Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q12849-1; Sequence=Displayed; Name=2; IsoId=Q12849-5; Sequence=VSP_043118; Note=No experimental confirmation available; Contains 3 RRM (RNA recognition motif) domains. Sequence=AAC95399.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites; Sequence=AAH40485.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=AAY40942.1; Type=Erroneous gene model prediction; Sequence=BAC03513.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites; Sequence=BAC86863.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites; Sequence=EAX05634.1; Type=Erroneous gene model prediction; positive regulation of mitochondrial RNA catabolic process nucleic acid binding RNA binding mRNA binding protein binding cytoplasm mitochondrion mRNA polyadenylation RNA processing mRNA processing tRNA processing anterior/posterior pattern specification morphogenesis of embryonic epithelium ribonucleoprotein granule mitochondrial nucleoid uc010iia.1 uc010iia.2 uc010iia.3 
ENST00000254801.9 JCHAIN ENST00000254801.9 Homo sapiens joining chain of multimeric IgA and IgM (JCHAIN), mRNA. (from RefSeq NM_144646) ENST00000254801.1 ENST00000254801.2 ENST00000254801.3 ENST00000254801.4 ENST00000254801.5 ENST00000254801.6 ENST00000254801.7 ENST00000254801.8 IGCJ IGJ IGJ_HUMAN NM_144646 P01591 uc003hfn.1 uc003hfn.2 uc003hfn.3 uc003hfn.4 uc003hfn.5 uc003hfn.6 Serves to link two monomer units of either IgM or IgA. In the case of IgM, the J chain-joined dimer is a nucleating unit for the IgM pentamer, and in the case of IgA it induces larger polymers. It also help to bind these immunoglobulins to secretory component. Secreted. retina homeostasis adaptive immune response glomerular filtration antigen binding extracellular region extracellular space receptor-mediated endocytosis immune response antibacterial humoral response IgA binding protein binding, bridging positive regulation of protein oligomerization immunoglobulin receptor binding protein homodimerization activity innate immune response leukocyte migration positive regulation of respiratory burst extracellular exosome monomeric IgA immunoglobulin complex dimeric IgA immunoglobulin complex secretory IgA immunoglobulin complex secretory dimeric IgA immunoglobulin complex pentameric IgM immunoglobulin complex blood microparticle single-stranded DNA binding phosphatidylcholine binding peptidoglycan binding hexameric IgM immunoglobulin complex uc003hfn.1 uc003hfn.2 uc003hfn.3 uc003hfn.4 uc003hfn.5 uc003hfn.6 
ENST00000254803.4 UTP3 ENST00000254803.4 Homo sapiens UTP3 small subunit processome component (UTP3), mRNA. (from RefSeq NM_020368) CRLZ1 ENST00000254803.1 ENST00000254803.2 ENST00000254803.3 NM_020368 Q6FI82 Q9NQZ2 SAS10 SAS10_HUMAN uc003hfo.1 uc003hfo.2 uc003hfo.3 uc003hfo.4 Essential for gene silencing: has a role in the structure of silenced chromatin. Plays a role in the developing brain (By similarity). Nucleus (By similarity). Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the SAS10 family. maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) RNA binding protein binding nucleus nucleoplasm nucleolus chromatin organization rRNA processing multicellular organism development brain development small-subunit processome uc003hfo.1 uc003hfo.2 uc003hfo.3 uc003hfo.4 
ENST00000254816.6 TRIM47 ENST00000254816.6 Homo sapiens tripartite motif containing 47 (TRIM47), mRNA. (from RefSeq NM_033452) ENST00000254816.1 ENST00000254816.2 ENST00000254816.3 ENST00000254816.4 ENST00000254816.5 GOA NM_033452 Q96GU5 Q96LD4 Q9BRN7 RNF100 TRI47_HUMAN uc002jpw.1 uc002jpw.2 uc002jpw.3 uc002jpw.4 uc002jpw.5 Cytoplasm. Nucleus. Low expression in most tissues. Higher expression in kidney tubular cells. Overexpressed in astrocytoma tumor cells. Belongs to the TRIM/RBCC family. Contains 1 B box-type zinc finger. Contains 1 B30.2/SPRY domain. Contains 1 RING-type zinc finger. ubiquitin-protein transferase activity nucleus cytoplasm cytosol zinc ion binding protein ubiquitination transferase activity metal ion binding uc002jpw.1 uc002jpw.2 uc002jpw.3 uc002jpw.4 uc002jpw.5 
ENST00000254821.10 ZRANB2 ENST00000254821.10 Homo sapiens zinc finger RANBP2-type containing 2 (ZRANB2), transcript variant 2, mRNA. (from RefSeq NM_005455) D3DQ75 ENST00000254821.1 ENST00000254821.2 ENST00000254821.3 ENST00000254821.4 ENST00000254821.5 ENST00000254821.6 ENST00000254821.7 ENST00000254821.8 ENST00000254821.9 NM_005455 O95218 Q53GS3 Q59F92 Q5VV33 Q5VV34 Q8IXN6 Q9UP63 ZIS ZNF265 ZRAB2_HUMAN uc001dfs.1 uc001dfs.2 uc001dfs.3 uc001dfs.4 Splice factor required for alternative splicing of TRA2B/SFRS10 transcripts. May interfere with constitutive 5'- splice site selection. Interacts with the C-terminal half of SNRNP70, the Arg/Ser-rich domain of AKAP17A as well as with U2AF1 and CLK1. Q02040:AKAP17A; NbExp=4; IntAct=EBI-1051583, EBI-1042725; P49407:ARRB1; NbExp=4; IntAct=EBI-1051583, EBI-743313; P32121:ARRB2; NbExp=4; IntAct=EBI-1051583, EBI-714559; Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=ZIS-1; IsoId=O95218-1; Sequence=Displayed; Name=2; Synonyms=ZIS-2; IsoId=O95218-2; Sequence=VSP_024945; Note=Phosphorylated on Ser-310 upon DNA damage, probably by ATM or ATR; The RanBP2-type zinc fingers mediate binding to RNA. Isoform 2 is phosphorylated on Ser-310 upon DNA damage, probably by ATM or ATR. Belongs to the ZRANB2 family. Contains 2 RanBP2-type zinc fingers. Sequence=AAD09746.1; Type=Frameshift; Positions=236; Sequence=AAD09747.1; Type=Frameshift; Positions=236; Sequence=BAD92805.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=CAB66879.1; Type=Frameshift; Positions=236; lipopolysaccharide binding transcription factor activity, sequence-specific DNA binding RNA binding protein binding nucleus nucleoplasm regulation of transcription, DNA-templated mRNA processing RNA splicing metal ion binding uc001dfs.1 uc001dfs.2 uc001dfs.3 uc001dfs.4 
ENST00000254846.9 KDM6B ENST00000254846.9 Homo sapiens lysine demethylase 6B (KDM6B), transcript variant 1, mRNA. (from RefSeq NM_001080424) C9IZ40 ENST00000254846.1 ENST00000254846.2 ENST00000254846.3 ENST00000254846.4 ENST00000254846.5 ENST00000254846.6 ENST00000254846.7 ENST00000254846.8 JMJD3 KDM6B_HUMAN KIAA0346 NM_001080424 O15054 Q96G33 uc002giw.1 uc002giw.2 The protein encoded by this gene is a lysine-specific demethylase that specifically demethylates di- or tri-methylated lysine 27 of histone H3 (H3K27me2 or H3K27me3). H3K27 trimethylation is a repressive epigenetic mark controlling chromatin organization and gene silencing. This protein can also demethylate non-histone proteins such as retinoblastoma protein. Through its demethylation actvity this gene influences cellular differentiation and development, tumorigenesis, inflammatory diseases, and neurodegenerative diseases. This protein has two classical nuclear localization signals at its N-terminus. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]. Histone demethylase that specifically demethylates 'Lys- 27' of histone H3, thereby playing a central role in histone code. Demethylates trimethylated and dimethylated H3 'Lys-27'. Plays a central role in regulation of posterior development, by regulating HOX gene expression. Involved in inflammatory response by participating in macrophage differentiation in case of inflammation by regulating gene expression and macrophage differentiation. Ascorbate (By similarity). Fe(2+). Interacts with TLE1 (By similarity). Component of the MLL4 complex, at least composed of MLL4, ASH2L, RBBP5, WDR5, and KDM6B. Nucleus (Probable). Event=Alternative splicing; Named isoforms=2; Name=2; IsoId=O15054-2; Sequence=Displayed; Note=Gene prediction based on similarity to mouse ortholog; Name=1; IsoId=O15054-1; Sequence=VSP_040102; By 12-O-tetradecanoylphorbol-13-acetate (TPA) in myeloid leukemia cells. Belongs to the UTX family. Contains 1 JmjC domain. Sequence=BAA21572.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding inflammatory response to antigenic stimulus chromatin binding protein binding nucleus nucleoplasm chromatin organization chromatin remodeling inflammatory response beta-catenin binding regulation of gene expression response to activity oxidoreductase activity histone demethylation hippocampus development chromatin DNA binding sequence-specific DNA binding MLL3/4 complex cell fate commitment endothelial cell differentiation positive regulation of transcription from RNA polymerase II promoter metal ion binding mesodermal cell differentiation dioxygenase activity cardiac muscle cell differentiation oxidation-reduction process response to fungicide cellular response to hydrogen peroxide histone H3-K27 demethylation histone demethylase activity (H3-K27 specific) uc002giw.1 uc002giw.2 
ENST00000254854.5 GUCY2D ENST00000254854.5 Homo sapiens guanylate cyclase 2D, retinal (GUCY2D), mRNA. (from RefSeq NM_000180) CORD6 ENST00000254854.1 ENST00000254854.2 ENST00000254854.3 ENST00000254854.4 GUC1A4 GUC2D GUC2D_HUMAN NM_000180 Q02846 Q6LEA7 RETGC RETGC1 uc002gjt.1 uc002gjt.2 uc002gjt.3 uc002gjt.4 This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases. [provided by RefSeq, Dec 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 :: M92432.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000254854.5/ ENSP00000254854.4 RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction. GTP = 3',5'-cyclic GMP + diphosphate. Activated by GCAP-1; inhibited by calcium. P06241:FYN; NbExp=1; IntAct=EBI-1756902, EBI-515315; Membrane; Single-pass type I membrane protein. Retina. Localized exclusively in the nuclei and inner segments of the rod and cone photoreceptor cells. Defects in GUCY2D are the cause of Leber congenital amaurosis type 1 (LCA1) [MIM:204000]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. Defects in GUCY2D are the cause of cone-rod dystrophy type 6 (CORD6) [MIM:601777]. CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. Contains 1 guanylate cyclase domain. Contains 1 protein kinase domain. Name=Mutations of the GUCY2D gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/gcmut.htm"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GUCY2D"; nucleotide binding peptide receptor activity guanylate cyclase activity protein kinase activity protein binding ATP binding GTP binding nuclear outer membrane plasma membrane integral component of plasma membrane cGMP biosynthetic process protein phosphorylation signal transduction receptor guanylyl cyclase signaling pathway visual perception cyclic nucleotide biosynthetic process membrane integral component of membrane lyase activity phosphorus-oxygen lyase activity natriuretic peptide receptor activity peptide hormone binding regulation of rhodopsin mediated signaling pathway intracellular signal transduction signaling receptor activity response to stimulus photoreceptor disc membrane uc002gjt.1 uc002gjt.2 uc002gjt.3 uc002gjt.4 
ENST00000254878.8 RIDA ENST00000254878.8 Homo sapiens reactive intermediate imine deaminase A homolog (RIDA), mRNA. (from RefSeq NM_005836) ENST00000254878.1 ENST00000254878.2 ENST00000254878.3 ENST00000254878.4 ENST00000254878.5 ENST00000254878.6 ENST00000254878.7 HRSP12 NM_005836 P52758 PSP Q6FHU9 Q6IBG0 UK114_HUMAN uc003yii.1 uc003yii.2 uc003yii.3 Endoribonuclease responsible for the inhibition of the translation by cleaving mRNA. Inhibits cell-free protein synthesis. Cleaves phosphodiester bonds only in single-stranded RNA (By similarity). Homotrimer. Cytoplasm. Nucleus. Note=Mostly cytoplasmic but, in less differentiated cells occasionally nuclear. Hepatocytes and renal distal tubular epithelial cells. Only weak expression in other tissues. Up-regulated during cellular differentiation. Belongs to the RutC family. kidney development RNA binding mRNA binding protein binding nucleus cytoplasm mitochondrion mitochondrial matrix peroxisome cytosol mRNA catabolic process brain development hydrolase activity endoribonuclease activity, producing 3'-phosphomonoesters negative regulation of translation deaminase activity L-threonine catabolic process to glycine lung development response to lipid long-chain fatty acid binding protein homodimerization activity ion binding transition metal ion binding negative regulation of epithelial cell proliferation mRNA destabilization extracellular exosome G1 to G0 transition RNA phosphodiester bond hydrolysis, endonucleolytic organonitrogen compound catabolic process response to salt uc003yii.1 uc003yii.2 uc003yii.3 
ENST00000254898.7 MATN2 ENST00000254898.7 Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA. (from RefSeq NM_002380) A8K106 E7EW74 E9PD48 E9PGL2 ENST00000254898.1 ENST00000254898.2 ENST00000254898.3 ENST00000254898.4 ENST00000254898.5 ENST00000254898.6 MATN2_HUMAN NM_002380 O00339 Q6UWA5 Q7Z5X1 Q8NDE6 Q96FT5 Q9NSZ1 UNQ193/PRO219 uc003yic.1 uc003yic.2 uc003yic.3 uc003yic.4 uc003yic.5 This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Involved in matrix assembly (By similarity). O15265:ATXN7; NbExp=2; IntAct=EBI-949020, EBI-708350; O00555:CACNA1A; NbExp=2; IntAct=EBI-949020, EBI-766279; Secreted. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=Long; IsoId=O00339-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=O00339-2; Sequence=VSP_001399; Name=3; IsoId=O00339-3; Sequence=VSP_013284; Note=No experimental confirmation available; Name=4; IsoId=O00339-4; Sequence=VSP_014540; Note=No experimental confirmation available; Phosphorylated upon DNA damage, probably by ATM or ATR. Contains 10 EGF-like domains. Contains 2 VWFA domains. Sequence=CAD38787.1; Type=Erroneous initiation; neuron migration growth plate cartilage chondrocyte morphogenesis extracellular matrix structural constituent calcium ion binding protein binding extracellular region basement membrane extracellular space axon guidance biological_process glial cell migration extracellular matrix dendrite regeneration neuron projection development response to axon injury uc003yic.1 uc003yic.2 uc003yic.3 uc003yic.4 uc003yic.5 
ENST00000254900.10 BRD8 ENST00000254900.10 Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA. (from RefSeq NM_139199) BRD8_HUMAN ENST00000254900.1 ENST00000254900.2 ENST00000254900.3 ENST00000254900.4 ENST00000254900.5 ENST00000254900.6 ENST00000254900.7 ENST00000254900.8 ENST00000254900.9 NM_139199 O43178 Q15355 Q58AB0 Q59GN0 Q969M9 Q9H0E9 SMAP SMAP2 uc003lcf.1 uc003lcf.2 uc003lcf.3 The protein encoded by this gene interacts with thyroid hormone receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein contains a bromodomain and is thought to be a nuclear receptor coactivator. Multiple alternatively spliced transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2014]. May act as a coactivator during transcriptional activation by hormone-activated nuclear receptors (NR). Isoform 2 stimulates transcriptional activation by AR/DHTR, ESR1/NR3A1, RXRA/NR2B1 and THRB/ERBA2. At least isoform 1 and isoform 2 are components of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5/TIP60 and the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41, VPS72/YL1 and MEAF6. The NuA4 complex interacts with MYC and the adenovirus E1A protein. Component of a NuA4-related complex which contains EP400, TRRAP/PAF400, SRCAP, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, actin, ACTL6A/BAF53A, VPS72 and YEATS4/GAS41. BRD8 isoform 2 interacts with RXRA/NR2B1 and THRB/ERBA2 (By similarity). Nucleus. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9H0E9-1; Sequence=Displayed; Name=2; IsoId=Q9H0E9-2; Sequence=VSP_012880, VSP_012883, VSP_012884; Note=Phosphorylated on Thr-264, Ser-268 and Ser-284; Name=3; IsoId=Q9H0E9-3; Sequence=VSP_012879, VSP_012880, VSP_012881, VSP_012882, VSP_012883, VSP_012884; Note=Phosphorylated on Thr-124, Ser-128 and Ser-144; Name=4; IsoId=Q9H0E9-4; Sequence=VSP_012880, VSP_023187, VSP_023188, VSP_023189, VSP_023190, VSP_023191; Note=Phosphorylated on Thr-264, Ser-268 and Ser-284; Expressed in adipose tissue, brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle. Contains 2 bromo domains. It is uncertain whether Met-1 or Met-32 is the initiator. Sequence=AAB87858.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH08039.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH08076.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAA63925.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Swr1 complex transcription factor activity, sequence-specific DNA binding RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding protein binding nucleus nucleoplasm mitochondrion chromatin organization regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter signal transduction cell surface receptor signaling pathway intracellular receptor signaling pathway NuA4 histone acetyltransferase complex regulation of growth histone H4 acetylation histone H2A acetylation uc003lcf.1 uc003lcf.2 uc003lcf.3 
ENST00000254901.9 REEP2 ENST00000254901.9 Homo sapiens receptor accessory protein 2 (REEP2), transcript variant 2, mRNA. (from RefSeq NM_016606) C5orf19 ENST00000254901.1 ENST00000254901.2 ENST00000254901.3 ENST00000254901.4 ENST00000254901.5 ENST00000254901.6 ENST00000254901.7 ENST00000254901.8 NM_016606 Q53EM8 Q9BRK0 Q9NYF2 REEP2_HUMAN SGC32445 uc003lcz.1 uc003lcz.2 uc003lcz.3 uc003lcz.4 uc003lcz.5 This gene encodes a member of the receptor expression enhancing protein family. Studies of a related gene in mouse suggest that the encoded protein is found in the cell membrane and enhances the function of sweet taste receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]. May enhance the cell surface expression of odorant receptors (By similarity). Interacts with odorant receptor proteins (By similarity). Membrane; Multi-pass membrane protein (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BRK0-1; Sequence=Displayed; Name=2; IsoId=Q9BRK0-2; Sequence=VSP_016633; Detected in brain, heart and skeletal muscle, and at low levels in placenta, kidney and pancreas. Belongs to the DP1 family. Sequence=AAF63767.1; Type=Frameshift; Positions=171; endoplasmic reticulum endoplasmic reticulum membrane cytoplasmic microtubule integral component of plasma membrane membrane integral component of membrane taste receptor binding regulation of intracellular transport protein transport into membrane raft sensory perception of bitter taste sensory perception of sweet taste endoplasmic reticulum tubular network organization uc003lcz.1 uc003lcz.2 uc003lcz.3 uc003lcz.4 uc003lcz.5 
ENST00000254928.10 ERAL1 ENST00000254928.10 Homo sapiens Era like 12S mitochondrial rRNA chaperone 1 (ERAL1), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_005702) B3KN21 C9JEC6 ENST00000254928.1 ENST00000254928.2 ENST00000254928.3 ENST00000254928.4 ENST00000254928.5 ENST00000254928.6 ENST00000254928.7 ENST00000254928.8 ENST00000254928.9 ERAL1_HUMAN HERA NM_005702 O75616 O75617 Q8WUY4 Q96LE2 Q96TC0 uc002hcy.1 uc002hcy.2 uc002hcy.3 The protein encoded by this gene is a GTPase that localizes to the mitochondrion. The encoded protein binds to the 3' terminal stem loop of 12S mitochondrial rRNA and is required for proper assembly of the 28S small mitochondrial ribosomal subunit. Deletion of this gene has been shown to cause mitochondrial dysfunction, growth retardation, and apoptosis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]. Probable GTPase that plays a role in the mitochondrial ribosomal small subunit assembly. Specifically binds the 12S mitochondrial rRNA (12S mt-rRNA) to a 33 nucleotide section delineating the 3' terminal stem-loop region. May act as a chaperone that protects the 12S mt-rRNA on the 28S mitoribosomal subunit during ribosomal small subunit assembly. Mitochondrion matrix. Mitochondrion inner membrane; Peripheral membrane protein. Note=Localizes on the matrix side on the mitochondrial inner membrane. Event=Alternative splicing; Named isoforms=2; Name=HERA-A; IsoId=O75616-1; Sequence=Displayed; Name=HERA-B; IsoId=O75616-2; Sequence=VSP_001453; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Belongs to the Era/MnmE GTP-binding protein family. Era subfamily. Contains 1 G (guanine nucleotide-binding) domain. Contains 1 KH type-2 domain. Sequence=AAG12978.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; ribosomal small subunit assembly nucleotide binding RNA binding protein binding GTP binding mitochondrion mitochondrial inner membrane mitochondrial matrix cytosol membrane rRNA binding ribosome biogenesis ribosomal small subunit binding mitochondrial translational elongation mitochondrial translational termination uc002hcy.1 uc002hcy.2 uc002hcy.3 
ENST00000254940.10 NIP7 ENST00000254940.10 Homo sapiens nucleolar pre-rRNA processing protein NIP7 (NIP7), transcript variant 1, mRNA. (from RefSeq NM_016101) B2RD04 CGI-37 ENST00000254940.1 ENST00000254940.2 ENST00000254940.3 ENST00000254940.4 ENST00000254940.5 ENST00000254940.6 ENST00000254940.7 ENST00000254940.8 ENST00000254940.9 HSPC031 HSPC180 NIP7_HUMAN NM_016101 OK/SW-cl.76 OK/SW-cl.78 Q9NZZ0 Q9Y221 uc002exa.1 uc002exa.2 uc002exa.3 uc002exa.4 uc002exa.5 Required for proper 34S pre-rRNA processing and 60S ribosome subunit assembly. Monomer. Interacts with pre-ribosome complex. May bind to RNA (By similarity). Interacts with NOL8. May interact with SBDS. Interacts with FTSJ3. Nucleus, nucleolus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y221-1; Sequence=Displayed; Name=2; IsoId=Q9Y221-2; Sequence=VSP_012094; Expressed in hematopoietic stem/progenitor cells. Belongs to the NIP7 family. Contains 1 PUA domain. RNA binding protein binding nucleus nucleolus cytosol preribosome, large subunit precursor ribosome biogenesis ribosome assembly ribosomal large subunit biogenesis uc002exa.1 uc002exa.2 uc002exa.3 uc002exa.4 uc002exa.5 
ENST00000254942.8 TERF2 ENST00000254942.8 Homo sapiens telomeric repeat binding factor 2 (TERF2), mRNA. (from RefSeq NM_005652) ENST00000254942.1 ENST00000254942.2 ENST00000254942.3 ENST00000254942.4 ENST00000254942.5 ENST00000254942.6 ENST00000254942.7 NM_005652 Q15554 TERF2_HUMAN TRBF2 TRF2 uc002exd.1 uc002exd.2 uc002exd.3 uc002exd.4 uc002exd.5 uc002exd.6 This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negative regulator of telomere length and plays a key role in the protective activity of telomeres. While having similar telomere binding activity and domain organization, TERF2 differs from TERF1 in that its N terminus is basic rather than acidic. [provided by RefSeq, Jul 2008]. CCDS Note: The coding region has been updated to extend the N-terminus to one that is more supported by the available transcript and conservation data. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF002999.1, SRR1803611.49458.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000254942.8/ ENSP00000254942.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Binds the telomeric double-stranded 5'-TTAGGG-3' repeat and plays a central role in telomere maintenance and protection against end-to-end fusion of chromosomes. In addition to its telomeric DNA-binding role, required to recruit a number of factors and enzymes required for telomere protection, including the shelterin complex, TERF2IP/RAP1 and DCLRE1B/Apollo. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded 5'-TTAGGG-3' repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Together with DCLRE1B/Apollo, plays a key role in telomeric loop (T loop) formation by generating 3' single- stranded overhang at the leading end telomeres: T loops have been proposed to protect chromosome ends from degradation and repair. Required both to recruit DCLRE1B/Apollo to telomeres and activate the exonuclease activity of DCLRE1B/Apollo. Preferentially binds to positive supercoiled DNA. Together with DCLRE1B/Apollo, required to control the amount of DNA topoisomerase (TOP1, TOP2A and TOP2B) needed for telomere replication during fork passage and prevent aberrant telomere topology. Recruits TERF2IP/RAP1 to telomeres, thereby participating in to repressing homology- directed repair (HDR), which can affect telomere length. Homodimer. Component of the shelterin complex (telosome) composed of TERF1, TERF2, TINF2, TERF2IP/RAP1, ACD and POT1. Interacts with TERF2IP. Interacts with NBN. Interacts with SLX4/BTBD12. Interacts with DCLRE1B/Apollo and TERF2IP/RAP1; the interaction is direct. P54132:BLM; NbExp=8; IntAct=EBI-706637, EBI-621372; Q9H816:DCLRE1B; NbExp=6; IntAct=EBI-706637, EBI-3508943; Q9NUX5:POT1; NbExp=3; IntAct=EBI-706637, EBI-752420; Q8IY92:SLX4; NbExp=5; IntAct=EBI-706637, EBI-2370740; Q9NYB0:TERF2IP; NbExp=5; IntAct=EBI-706637, EBI-750109; Q9BSI4-3:TINF2; NbExp=4; IntAct=EBI-706637, EBI-717418; Q14191:WRN; NbExp=8; IntAct=EBI-706637, EBI-368417; Nucleus. Chromosome, telomere. Note=Colocalizes with telomeric DNA in interphase cells and is located at chromosome ends during metaphase. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q15554-1; Sequence=Displayed; Name=2; IsoId=Q15554-2; Sequence=VSP_003304, VSP_003305; Note=No experimental confirmation available; Ubiquitous. Highly expressed in spleen, thymus, prostate, uterus, testis, small intestine, colon and peripheral blood leukocytes. The TRFH dimerization region mediates the interaction with DCLRE1B/Apollo but not TINF2. The HTH domain is an independent structural unit and mediates binding to telomeric DNA. Phosphorylated upon DNA damage, most probably by ATM. Phosphorylated TERF2 is not bound to telomeric DNA, and rapidly localizes to damage sites. Methylated by PRMT1 at multiple arginines within the N- terminal Arg-rich region. Methylation may control association with telomeres. Contains 1 HTH myb-type DNA-binding domain. telomere maintenance chromosome, telomeric region nuclear telomere cap complex nuclear chromosome, telomeric region RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding double-stranded telomeric DNA binding protein binding nucleus nucleoplasm chromosome RNA-dependent DNA biosynthetic process regulation of transcription from RNA polymerase II promoter cell cycle protein C-terminus binding positive regulation of gene expression negative regulation of gene expression telomere capping nuclear body enzyme binding telomeric loop formation protection from non-homologous end joining at telomere regulation of telomere maintenance negative regulation of telomere maintenance negative regulation of telomere maintenance via recombination regulation of telomere maintenance via telomerase negative regulation of telomere maintenance via telomerase negative regulation of telomere maintenance via semi-conservative replication telomeric DNA binding protein homodimerization activity macromolecular complex binding positive regulation of nitric-oxide synthase activity telomeric D-loop disassembly telosome protein localization to chromosome, telomeric region cellular senescence G-rich strand telomeric DNA binding anterograde axonal transport of messenger ribonucleoprotein complex negative regulation of beta-galactosidase activity negative regulation of telomere single strand break repair axon cytoplasm negative regulation of telomere capping negative regulation of telomere maintenance via telomere lengthening negative regulation of t-circle formation negative regulation of exonuclease activity negative regulation of cellular senescence Mre11 complex telomerase activity uc002exd.1 uc002exd.2 uc002exd.3 uc002exd.4 uc002exd.5 uc002exd.6 
ENST00000254950.13 VPS4A ENST00000254950.13 Homo sapiens vacuolar protein sorting 4 homolog A (VPS4A), mRNA. (from RefSeq NM_013245) B2RCB7 ENST00000254950.1 ENST00000254950.10 ENST00000254950.11 ENST00000254950.12 ENST00000254950.2 ENST00000254950.3 ENST00000254950.4 ENST00000254950.5 ENST00000254950.6 ENST00000254950.7 ENST00000254950.8 ENST00000254950.9 NM_013245 Q8TF07 Q9UI03 Q9UN37 Q9Y582 VPS4 VPS4A_HUMAN uc002eww.1 uc002eww.2 uc002eww.3 uc002eww.4 uc002eww.5 The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. The mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be really an yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 16; the gene for the other resides on chromosome 18. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.66661.1, SRR1803617.226430.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000254950.13/ ENSP00000254950.11 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. In conjunction with the ESCRT machinery also appears to function in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and enveloped virus budding (HIV-1 and other lentiviruses). Involved in cytokinesis. Proposed to be monomeric or homodimeric in nucleotide- free form and to oligomerize upon binding to ATP to form two stacked hexameric or heptameric rings with a central pore through which ESCRT-III substrates are translocated in an ATP-dependent manner (By similarity). Interacts with CHMP1A, CHMP1B, CHMP2A, CHMP2B, CHMP3, CHMP4A, CHMP4B, CHMP4C and CHMP6. Interacts with VPS4B; the interaction suggests a heteromeric assembly with VPS4B. Interacts with SPAST. Interacts with IST1. Prevacuolar compartment membrane; Peripheral membrane protein. Late endosome membrane; Peripheral membrane protein (Probable). Note=Membrane-associated in the prevacuolar endosomal compartment. Localizes to the midbody of dividing cells. Localized in two distinct rings on either side of the Fleming body. Ubiquitously expressed. The MIT domain serves as an adapter for ESCRT-III proteins. It forms an asymmetric three-helix bundle that binds amphipathic MIM (MIT interacting motif) helices along the groove between MIT helices 2 and 3 present in a subset of ESCRT-III proteins thus establishing the canonical MIM-MIT interaction. In an extended conformation along the groove between helices 1 and 3, also binds to a type-2 MIT interacting motif (MIM2). Belongs to the AAA ATPase family. Contains 1 MIT domain. Sequence=AAL75948.1; Type=Frameshift; Positions=123, 133, 157, 163; nucleotide binding actomyosin contractile ring contraction spindle pole protein binding ATP binding nucleus cytoplasm lysosome endosome early endosome late endosome vacuolar membrane centrosome cytosol plasma membrane protein targeting to lysosome membrane budding nucleus organization nuclear envelope organization vacuole organization cell cycle mitotic metaphase plate congression protein C-terminus binding abscission endosome membrane protein transport membrane vesicle-mediated transport endosomal transport macroautophagy hydrolase activity ATPase activity viral life cycle viral release from host cell protein domain specific binding midbody nuclear envelope reassembly late endosome membrane intracellular cholesterol transport negative regulation of cytokinesis regulation of protein localization endosomal vesicle fusion multivesicular body assembly viral budding via host ESCRT complex ATPase activity, coupled ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway macromolecular complex binding mitotic cytokinesis checkpoint perinuclear region of cytoplasm cell division cytoskeleton-dependent cytokinesis late endosomal microautophagy extracellular exosome vesicle uncoating Flemming body ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway positive regulation of viral release from host cell regulation of protein localization to plasma membrane positive regulation of exosomal secretion positive regulation of viral budding via host ESCRT complex positive regulation of viral life cycle ESCRT complex disassembly ESCRT III complex disassembly uc002eww.1 uc002eww.2 uc002eww.3 uc002eww.4 uc002eww.5 
ENST00000254958.10 JAG1 ENST00000254958.10 Homo sapiens jagged canonical Notch ligand 1 (JAG1), mRNA. (from RefSeq NM_000214) A0AV43 ENST00000254958.1 ENST00000254958.2 ENST00000254958.3 ENST00000254958.4 ENST00000254958.5 ENST00000254958.6 ENST00000254958.7 ENST00000254958.8 ENST00000254958.9 JAG1_HUMAN JAGL1 NM_000214 O14902 O15122 P78504 Q15816 uc002wnw.1 uc002wnw.2 uc002wnw.3 uc002wnw.4 The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter is involved in signaling processes. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Nov 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 :: AF003837.1, BC098393.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000254958.10/ ENSP00000254958.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Ligand for multiple Notch receptors and involved in the mediation of Notch signaling. May be involved in cell-fate decisions during hematopoiesis. Seems to be involved in early and late stages of mammalian cardiovascular development. Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth factor-induced angiogenesis (in vitro). Interacts with NOTCH2 and NOTCH3 (By similarity). Interacts with NOTCH1 (in the presence of calcium ions). Membrane; Single-pass type I membrane protein. Widely expressed in adult and fetal tissues. In cervix epithelium expressed in undifferentiated subcolumnar reserve cells and squamous metaplasia. Expression is up-regulated in cervical squamous cell carcinoma. Expressed in bone marrow cell line HS-27a which supports the long-term maintenance of immature progenitor cells. Expressed in 32-52 days embryos in the distal cardiac outflow tract and pulmonary artery, major arteries, portal vein, optic vesicle, otocyst, branchial arches, metanephros, pancreas, mesocardium, around the major bronchial branches, and in the neural tube. The second EGF-like domain is atypical. Defects in JAG1 are the cause of Alagille syndrome type 1 (ALGS1) [MIM:118450]. Alagille syndrome is an autosomal dominant multisystem disorder defined clinically by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems. Defects in JAG1 are a cause of tetralogy of Fallot (TOF) [MIM:187500]. TOF is a congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. This condition results in a blue baby at birth due to inadequate oxygenation. Surgical correction is emergent. Contains 1 DSL domain. Contains 16 EGF-like domains. Sequence=AAC51323.1; Type=Frameshift; Positions=1187; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/JAG1ID41029ch20p12.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/JAG1"; angiogenesis cell fate determination negative regulation of cell-matrix adhesion blood vessel remodeling morphogenesis of an epithelial sheet T cell mediated immunity aortic valve morphogenesis pulmonary valve morphogenesis cardiac right ventricle morphogenesis Notch binding structural molecule activity calcium ion binding protein binding phospholipid binding extracellular region plasma membrane integral component of plasma membrane adherens junction cell communication Notch signaling pathway multicellular organism development nervous system development growth factor activity animal organ morphogenesis membrane integral component of membrane apical plasma membrane negative regulation of cell-cell adhesion hemopoiesis keratinocyte differentiation negative regulation of cell migration response to muramyl dipeptide aorta morphogenesis regulation of cell proliferation auditory receptor cell differentiation camera-type eye development apical part of cell myoblast differentiation endothelial cell differentiation negative regulation of cell differentiation negative regulation of fat cell differentiation negative regulation of endothelial cell differentiation positive regulation of myeloid cell differentiation negative regulation of neuron differentiation positive regulation of osteoblast differentiation negative regulation of Notch signaling pathway positive regulation of Notch signaling pathway positive regulation of transcription from RNA polymerase II promoter inner ear development cardiac septum morphogenesis ciliary body morphogenesis pulmonary artery morphogenesis cardiac neural crest cell development involved in outflow tract morphogenesis Notch signaling involved in heart development endocardial cushion cell development nephron development glomerular visceral epithelial cell development distal tubule development loop of Henle development neuronal stem cell population maintenance negative regulation of stem cell differentiation uc002wnw.1 uc002wnw.2 uc002wnw.3 uc002wnw.4 
ENST00000254963.7 HSPA12B ENST00000254963.7 Homo sapiens heat shock protein family A (Hsp70) member 12B (HSPA12B), transcript variant 1, mRNA. (from RefSeq NM_052970) C20orf60 D3DVX7 ENST00000254963.1 ENST00000254963.2 ENST00000254963.3 ENST00000254963.4 ENST00000254963.5 ENST00000254963.6 HS12B_HUMAN NM_052970 Q2TAK3 Q96MM6 Q9BR52 uc002wjd.1 uc002wjd.2 uc002wjd.3 uc002wjd.4 uc002wjd.5 The protein encoded by this gene contains an atypical heat shock protein 70 (Hsp70) ATPase domain and is therefore a distant member of the mammalian Hsp70 family. This gene may be involved in susceptibility to atherosclerosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. Highest expression in muscle and heart. Lower levels in liver and kidney. Belongs to the heat shock protein 70 family. nucleotide binding protein binding ATP binding uc002wjd.1 uc002wjd.2 uc002wjd.3 uc002wjd.4 uc002wjd.5 
ENST00000254977.7 BTBD3 ENST00000254977.7 Homo sapiens BTB domain containing 3 (BTBD3), transcript variant 2, mRNA. (from RefSeq NM_181443) BTBD3_HUMAN D3DW19 ENST00000254977.1 ENST00000254977.2 ENST00000254977.3 ENST00000254977.4 ENST00000254977.5 ENST00000254977.6 KIAA0952 NM_181443 Q5JY73 Q9Y2F9 uc002wny.1 uc002wny.2 uc002wny.3 uc002wny.4 uc002wny.5 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y2F9-1; Sequence=Displayed; Name=2; IsoId=Q9Y2F9-2; Sequence=VSP_041215; Contains 1 BTB (POZ) domain. Sequence=BAA76796.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; nucleus cytoplasm cytosol nervous system development cerebral cortex development neurogenesis dendrite morphogenesis uc002wny.1 uc002wny.2 uc002wny.3 uc002wny.4 uc002wny.5 
ENST00000254998.3 NXT1 ENST00000254998.3 Homo sapiens nuclear transport factor 2 like export factor 1 (NXT1), mRNA. (from RefSeq NM_013248) ENST00000254998.1 ENST00000254998.2 NM_013248 NXT1_HUMAN Q9UKK6 uc002wsx.1 uc002wsx.2 uc002wsx.3 The protein encoded by this gene is located in the nuclear envelope. It has protein similarity to nuclear transport factor 2. This protein functions as a nuclear export factor in both RAN (Ras-related nuclear protein)- and CRM1 (required for chromosome region maintenance)-dependent pathways. It is found to stimulate the export of U1 snRNA in RAN- and CRM1-dependent pathways and the export of tRNA and mRNA in a CRM1-independent pathway. The encoded protein heterodimerizes with Tap protein and may regulate the ability of Tap protein to mediate nuclear mRNA export. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC003410.1, SRR5189661.8840.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000254998.3/ ENSP00000254998.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Stimulator of protein export for NES-containing proteins. Also plays a role in the nuclear export of U1 snRNA, tRNA, and mRNA. The NXF1-NXT1 heterodimer is involved in the export of HSP70 mRNA in conjunction with ALYREF/THOC4 and THOC5. Heterodimer with NXF1. Interacts (via NTF2 domain) with NXF1. Stablizes the NTF2 domain of NXF1 by heterodimerization. The formation of NXF1/NXT1 heterodimers is required for the NXF1- mediated nuclear mRNA export. Preferentially binds Ran-GTP. Associates with NXF2, NXF3 and NXF5. Does not bind nucleoporins (NPC) directly, its association to NPC is mediated by NXF1. Q9UBU9:NXF1; NbExp=2; IntAct=EBI-301889, EBI-398874; Q9H4D5:NXF3; NbExp=3; IntAct=EBI-301889, EBI-750038; Q9BP41:Ranbp21 (xeno); NbExp=2; IntAct=EBI-301889, EBI-301896; Nucleus. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm. Contains 1 NTF2 domain. protein binding nucleus nuclear pore nucleoplasm cytoplasm cytosol RNA export from nucleus mRNA export from nucleus protein import into nucleus protein export from nucleus nucleocytoplasmic transport Ran GTPase binding protein transport nuclear speck nuclear pore central transport channel uc002wsx.1 uc002wsx.2 uc002wsx.3 
ENST00000255006.12 RIN2 ENST00000255006.12 Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 2, mRNA. (from RefSeq NM_018993) ENST00000255006.1 ENST00000255006.10 ENST00000255006.11 ENST00000255006.2 ENST00000255006.3 ENST00000255006.4 ENST00000255006.5 ENST00000255006.6 ENST00000255006.7 ENST00000255006.8 ENST00000255006.9 NM_018993 Q00425 Q5TFT8 Q8WYP3 Q9BQL3 Q9H071 RASSF4 RIN2_HUMAN uc285spp.1 uc285spp.2 The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]. Ras effector protein. May function as an upstream activator and/or downstream effector for RAB5B in endocytic pathway. May function as a guanine nucleotide exchange (GEF) of RAB5B, required for activating the RAB5 proteins by exchanging bound GDP for free GTP. Homotetramer; probably composed of anti-parallel linkage of two parallel dimers. Interacts with Ras. Interacts with RAB5B, with a much higher affinity for GTP-bound activated RAB5B. Does not interact with other members of the Rab family. Cytoplasm (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8WYP3-1; Sequence=Displayed; Name=2; IsoId=Q8WYP3-2; Sequence=VSP_015145; Note=No experimental confirmation available; Widely expressed. Expressed in heart, kidney, lung placenta. Expressed at low level in skeletal muscle, spleen and peripheral blood. Defects in RIN2 are the cause of MACS syndrome (MACS) [MIM:613075]; also called macrocephaly alopecia cutis laxa and scoliosis syndrome. MACS is an autosomal-recessive inherited complex disorder of elastic tissue, characterized by sagging skin and occasionally by life-threatening visceral complications. Belongs to the RIN (Ras interaction/interference) family. Contains 1 Ras-associating domain. Contains 1 SH2 domain. Contains 1 VPS9 domain. Sequence=CAB66858.1; Type=Erroneous initiation; Note=Translation N-terminally extended; GTPase activator activity cellular_component cytoplasm cytosol endocytosis signal transduction small GTPase mediated signal transduction Rab guanyl-nucleotide exchange factor activity GTPase regulator activity positive regulation of GTPase activity regulation of catalytic activity uc285spp.1 uc285spp.2 
ENST00000255008.5 SSTR4 ENST00000255008.5 Homo sapiens somatostatin receptor 4 (SSTR4), mRNA. (from RefSeq NM_001052) ENST00000255008.1 ENST00000255008.2 ENST00000255008.3 ENST00000255008.4 NM_001052 P31391 Q17RM1 Q17RM3 Q9UIY1 SSR4_HUMAN uc002wsr.1 uc002wsr.2 uc002wsr.3 uc002wsr.4 Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biologic effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. SSTR4 is a member of the superfamily of receptors having seven transmembrane segments and is expressed in highest levels in fetal and adult brain and lung. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC117270.1, SRR7410571.176220.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for somatostatin-14. The activity of this receptor is mediated by G proteins which inhibits adenylyl cyclase. It is functionally coupled not only to inhibition of adenylate cyclase, but also to activation of both arachidonate release and mitogen-activated protein (MAP) kinase cascade. Mediates antiproliferative action of somatostatin in tumor cells. Cell membrane; Multi-pass membrane protein. Specifically expressed in fetal and adult brain, lung tissue, stomach, and in lesser quantities in the kidney, pituitary and adrenals. Belongs to the G-protein coupled receptor 1 family. G-protein coupled receptor activity somatostatin receptor activity cytoplasm plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger neuropeptide signaling pathway negative regulation of cell proliferation membrane integral component of membrane cell migration forebrain development somatostatin signaling pathway peptide binding neuropeptide binding positive regulation of ERK1 and ERK2 cascade cellular response to glucocorticoid stimulus positive regulation of arachidonic acid secretion uc002wsr.1 uc002wsr.2 uc002wsr.3 uc002wsr.4 
ENST00000255030.9 CRP ENST00000255030.9 Homo sapiens C-reactive protein (CRP), transcript variant 1, mRNA. (from RefSeq NM_001329057) A8K078 CRP_HUMAN D3DVD9 D3DVE0 ENST00000255030.1 ENST00000255030.2 ENST00000255030.3 ENST00000255030.4 ENST00000255030.5 ENST00000255030.6 ENST00000255030.7 ENST00000255030.8 NM_001329057 P02741 PTX1 Q08AK3 Q8WW75 uc001ftw.1 uc001ftw.2 uc001ftw.3 The protein encoded by this gene belongs to the pentaxin family. It is involved in several host defense related functions based on its ability to recognize foreign pathogens and damaged cells of the host and to initiate their elimination by interacting with humoral and cellular effector systems in the blood. Consequently, the level of this protein in plasma increases greatly during acute phase response to tissue injury, infection, or other inflammatory stimuli. [provided by RefSeq, Sep 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189664.60328.1, SRR5189664.66117.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN04284274 [ECO:0000348] ##Evidence-Data-END## Displays several functions associated with host defense: it promotes agglutination, bacterial capsular swelling, phagocytosis and complement fixation through its calcium-dependent binding to phosphorylcholine. Can interact with DNA and histones and may scavenge nuclear material released from damaged circulating cells. Binds 2 calcium ions per subunit. Homopentamer. Pentaxin (or pentraxin) have a discoid arrangement of 5 non-covalently bound subunits. P31995:FCGR2C; NbExp=2; IntAct=EBI-1395983, EBI-1396036; Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P02741-1; Sequence=Displayed; Name=2; IsoId=P02741-2; Sequence=VSP_004656; Note=No experimental confirmation available; Found in plasma. The concentration of CRP in plasma increases greatly during acute phase response to tissue injury, infection or other inflammatory stimuli. It is induced by IL1/interleukin-1 and IL6//interleukin-6. Mass=23028; Method=MALDI; Range=19-224; Source=Ref.15; Mass=22930; Method=MALDI; Range=19-223; Source=Ref.15; This protein owes its name to its ability precipitate pneumococcal C-polysaccharide in the presence of calcium. Belongs to the pentaxin family. Contains 1 pentaxin domain. Name=Wikipedia; Note=C-reactive protein entry; URL="http://en.wikipedia.org/wiki/C-reactive_protein"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/crp/"; Name=Protein Spotlight; Note=No more Christmas pudding? - Issue 30 of January 2003; URL="http://web.expasy.org/spotlight/back_issues/sptlt030.shtml"; complement component C1q binding calcium ion binding protein binding extracellular region extracellular space acute-phase response inflammatory response complement activation, classical pathway opsonization positive regulation of gene expression negative regulation of macrophage derived foam cell differentiation negative regulation of lipid storage low-density lipoprotein particle binding positive regulation of superoxide anion generation choline binding identical protein binding innate immune response metal ion binding low-density lipoprotein particle receptor binding defense response to Gram-positive bacterium regulation of interleukin-8 secretion virion binding uc001ftw.1 uc001ftw.2 uc001ftw.3 
ENST00000255039.6 HAPLN2 ENST00000255039.6 Homo sapiens hyaluronan and proteoglycan link protein 2 (HAPLN2), mRNA. (from RefSeq NM_021817) BRAL1 ENST00000255039.1 ENST00000255039.2 ENST00000255039.3 ENST00000255039.4 ENST00000255039.5 HPLN2_HUMAN NM_021817 Q9GZV7 uc001fpn.1 uc001fpn.2 Mediates a firm binding of versican V2 to hyaluronic acid. May play a pivotal role in the formation of the hyaluronan- associated matrix in the central nervous system (CNS) which facilitates neuronal conduction and general structural stabilization. Binds to hyaluronic acid (By similarity). Secreted, extracellular space, extracellular matrix (By similarity). Expressed only in adult brain. Belongs to the HAPLN family. Contains 1 Ig-like V-type (immunoglobulin-like) domain. Contains 2 Link domains. skeletal system development hyaluronic acid binding extracellular region cell adhesion central nervous system development establishment of blood-nerve barrier extracellular matrix extracellular matrix assembly uc001fpn.1 uc001fpn.2 
ENST00000255040.3 APCS ENST00000255040.3 Homo sapiens amyloid P component, serum (APCS), mRNA. (from RefSeq NM_001639) ENST00000255040.1 ENST00000255040.2 NM_001639 V9HWP0 uc001ftv.1 uc001ftv.2 uc001ftv.3 uc001ftv.4 uc001ftv.5 The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence homology which is thought to be the result of gene duplication. The binding of the encoded protein to proteins in the pathological amyloid cross-beta fold suggests its possible role as a chaperone. This protein is also thought to control the degradation of chromatin. It has been demonstrated that this protein binds to apoptotic cells at an early stage, which raises the possibility that it is involved in dealing with apoptotic cells in vivo. [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 :: BC007058.1, FJ460512.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145122, SAMEA2146982 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000255040.3/ ENSP00000255040.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## uc001ftv.1 uc001ftv.2 uc001ftv.3 uc001ftv.4 uc001ftv.5 
ENST00000255078.8 IGHMBP2 ENST00000255078.8 Homo sapiens immunoglobulin mu DNA binding protein 2 (IGHMBP2), mRNA. (from RefSeq NM_002180) A0PJD2 ENST00000255078.1 ENST00000255078.2 ENST00000255078.3 ENST00000255078.4 ENST00000255078.5 ENST00000255078.6 ENST00000255078.7 NM_002180 P38935 Q00443 Q14177 SMBP2 SMBP2_HUMAN SMUBP2 uc001ook.1 uc001ook.2 uc001ook.3 This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: L14754.1, BC041808.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000255078.8/ ENSP00000255078.4 RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## 5' to 3' helicase that unwinds RNA and DNA duplices in an ATP-dependent reaction. Acts as a transcription regulator. Required for the transcriptional activation of the flounder liver- type antifreeze protein gene. Exhibits strong binding specificity to the enhancer element B of the flounder antifreeze protein gene intron. Binds to the insulin II gene RIPE3B enhancer region. May be involved in translation (By similarity). DNA-binding protein specific to 5'-phosphorylated single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region. Preferentially binds to the 5'-GGGCT-3' motif. Interacts with tRNA-Tyr. Stimulates the transcription of the human neurotropic virus JCV. ATP + H(2)O = ADP + phosphate. Homooligomer. Interacts with RUVBL1, RUVBL2, GTF3C1 and ABT1. Is part of large cytosolic ribonucleoprotein complexes (Probable). Associates with the ribosomes. Nucleus. Cytoplasm. Cell projection, axon (By similarity). Note=Colocalizes with the traslation initiation factor EIF4G2 (By similarity). Expressed in all tissues examined. Phosphorylated upon DNA damage, probably by ATM or ATR. Defects in IGHMBP2 are the cause of distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]; also known as spinal muscular atrophy distal autosomal recessive 1 (DSMA1) or spinal muscular atrophy with respiratory distress 1 (SMARD1). Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. The most prominent symptoms of HMN6 are severe respiratory distress resulting from diaphragmatic paralysis with eventration shown on chest x-ray and predominant involvement of the upper limbs and distal muscles. Belongs to the DNA2/NAM7 helicase family. Contains 1 AN1-type zinc finger. Contains 1 R3H domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IGHMBP2"; tRNA binding negative regulation of transcription from RNA polymerase II promoter nucleotide binding nucleic acid binding DNA binding DNA helicase activity single-stranded DNA binding RNA binding RNA helicase activity helicase activity protein binding ATP binding nucleus cytoplasm DNA replication DNA repair DNA recombination translation DNA-dependent ATPase activity transcription factor binding RNA-dependent ATPase activity zinc ion binding membrane hydrolase activity axon growth cone DNA duplex unwinding 5'-3' RNA helicase activity identical protein binding cell projection ribosome binding 5'-3' DNA helicase activity metal ion binding ribonucleoprotein complex uc001ook.1 uc001ook.2 uc001ook.3 
ENST00000255082.8 ACY3 ENST00000255082.8 Homo sapiens aminoacylase 3 (ACY3), mRNA. (from RefSeq NM_080658) ACY3_HUMAN ASPA2 ENST00000255082.1 ENST00000255082.2 ENST00000255082.3 ENST00000255082.4 ENST00000255082.5 ENST00000255082.6 ENST00000255082.7 NM_080658 Q96HD9 uc001omq.1 uc001omq.2 uc001omq.3 uc001omq.4 Plays an important role in deacetylating mercapturic acids in kidney proximal tubules (By similarity). Binds 1 zinc ion per subunit (Potential). Homotetramer (By similarity). Interacts with HCV core protein. Apical cell membrane; Peripheral membrane protein. Cytoplasm. Note=Predominantly localized in the apical membrane of cells in the S1 segment. In the proximal straight tubules (S2 and S3 segments) is expressed diffusely throughout the cytoplasm. Belongs to the AspA/AstE family. Aspartoacylase subfamily. molecular_function aminoacylase activity protein binding cytoplasm cytosol plasma membrane xenobiotic metabolic process biological_process membrane viral process apical plasma membrane hydrolase activity hydrolase activity, acting on ester bonds hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides identical protein binding metal ion binding extracellular exosome uc001omq.1 uc001omq.2 uc001omq.3 uc001omq.4 
ENST00000255087.10 TESMIN ENST00000255087.10 Homo sapiens testis expressed metallothionein like protein (TESMIN), transcript variant 1, mRNA. (from RefSeq NM_004923) A8K8J3 ENST00000255087.1 ENST00000255087.2 ENST00000255087.3 ENST00000255087.4 ENST00000255087.5 ENST00000255087.6 ENST00000255087.7 ENST00000255087.8 ENST00000255087.9 MTL5 MTL5_HUMAN NM_004923 Q4G182 Q6P2E2 Q8NCC8 Q9Y4I5 uc001ooc.1 uc001ooc.2 uc001ooc.3 uc001ooc.4 uc001ooc.5 Metallothionein proteins are highly conserved low-molecular-weight cysteine-rich proteins that are induced by and bind to heavy metal ions and have no enzymatic activity. They may play a central role in the regulation of cell growth and differentiation and are involved in spermatogenesis. This gene encodes a metallothionein-like protein which has been shown to be expressed differentially in mouse testis and ovary. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. May have a role in spermatogenesis (Probable). Cytoplasm (By similarity). Nucleus (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9Y4I5-1; Sequence=Displayed; Name=2; IsoId=Q9Y4I5-2; Sequence=VSP_035299; Name=3; IsoId=Q9Y4I5-3; Sequence=VSP_035297, VSP_035298; Note=No experimental confirmation available; Expressed specifically in testis. Belongs to the lin-54 family. Contains 1 CRC domain. Sequence=AAD24668.1; Type=Frameshift; Positions=Several; RNA polymerase II regulatory region sequence-specific DNA binding nucleus cytoplasm regulation of transcription, DNA-templated cellular metal ion homeostasis multicellular organism development spermatogenesis response to metal ion cell differentiation metal ion binding uc001ooc.1 uc001ooc.2 uc001ooc.3 uc001ooc.4 uc001ooc.5 
ENST00000255108.8 DPH2 ENST00000255108.8 Homo sapiens diphthamide biosynthesis 2 (DPH2), transcript variant 1, mRNA. (from RefSeq NM_001384) B2RDE3 DPH2L2 DPH2_HUMAN ENST00000255108.1 ENST00000255108.2 ENST00000255108.3 ENST00000255108.4 ENST00000255108.5 ENST00000255108.6 ENST00000255108.7 NM_001384 O60623 Q9BQC3 uc001ckz.1 uc001ckz.2 uc001ckz.3 uc001ckz.4 uc001ckz.5 This gene is one of two human genes similar to the yeast gene dph2. The yeast gene was identified by its ability to complement a diphthamide mutant strain, and thus probably functions in diphthamide biosynthesis. Diphthamide is a post-translationally modified histidine residue present in elongation factor 2 (EF2) that is the target of diphtheria toxin ADP-ribosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]. Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2 (By similarity). Interacts with DPH1 (By similarity). Strongly expressed in skeletal muscle. Moderately expressed in heart, small intestine, liver, pancreas, testis and colon. Weakly expressed in brain, placenta, kidney, speen, thymus, prostate, ovary and lymphocytes. Belongs to the DPH1/DPH2 family. DPH2 subfamily. protein binding cytosol transferase activity peptidyl-diphthamide biosynthetic process from peptidyl-histidine 2-(3-amino-3-carboxypropyl)histidine synthase activity uc001ckz.1 uc001ckz.2 uc001ckz.3 uc001ckz.4 uc001ckz.5 
ENST00000255136.8 PABPC1L ENST00000255136.8 Belongs to the polyadenylate-binding protein type-1 family. (from UniProt Q4VXU2) C20orf119 ENST00000255136.1 ENST00000255136.2 ENST00000255136.3 ENST00000255136.4 ENST00000255136.5 ENST00000255136.6 ENST00000255136.7 EU190483 PAP1L_HUMAN Q4VXU2 uc010ggv.1 uc010ggv.2 Belongs to the polyadenylate-binding protein type-1 family. Contains 1 PABC domain. Contains 4 RRM (RNA recognition motif) domains. oocyte maturation nucleic acid binding RNA binding mRNA 3'-UTR binding nucleus cytoplasm cytosol chromatin remodeling mRNA polyadenylation poly(A) binding poly(U) RNA binding cytoplasmic stress granule chromatin-mediated maintenance of transcription nucleus localization extracellular exosome ribonucleoprotein complex uc010ggv.1 uc010ggv.2 
ENST00000255152.3 ZSWIM3 ENST00000255152.3 Homo sapiens zinc finger SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA. (from RefSeq NM_080752) C20orf164 ENST00000255152.1 ENST00000255152.2 NM_080752 Q96MP5 Q9BR13 ZSWM3_HUMAN uc002xqd.1 uc002xqd.2 uc002xqd.3 uc002xqd.4 uc002xqd.5 Contains 1 SWIM-type zinc finger. zinc ion binding metal ion binding uc002xqd.1 uc002xqd.2 uc002xqd.3 uc002xqd.4 uc002xqd.5 
ENST00000255174.3 OSER1 ENST00000255174.3 Homo sapiens oxidative stress responsive serine rich 1 (OSER1), mRNA. (from RefSeq NM_016470) B2RCK4 BM-038 C20orf111 CT111_HUMAN ENST00000255174.1 ENST00000255174.2 HSPC168 HSPC207 NM_016470 O95912 Q9NX31 Q9NZ84 Q9P0R8 uc002xlk.1 uc002xlk.2 uc002xlk.3 uc002xlk.4 uc002xlk.5 Sequence=AAF36127.1; Type=Frameshift; Positions=201, 195; Sequence=AAF67625.1; Type=Frameshift; Positions=201, 287; Sequence=BAA91191.1; Type=Frameshift; Positions=183; cellular response to hydrogen peroxide uc002xlk.1 uc002xlk.2 uc002xlk.3 uc002xlk.4 uc002xlk.5 
ENST00000255175.5 SERINC3 ENST00000255175.5 Homo sapiens serine incorporator 3 (SERINC3), transcript variant 2, mRNA. (from RefSeq NM_198941) DIFF33 ENST00000255175.1 ENST00000255175.2 ENST00000255175.3 ENST00000255175.4 NM_198941 O43717 Q13530 Q9BR33 SBBI99 SERC3_HUMAN TDE1 uc002xme.1 uc002xme.2 uc002xme.3 uc002xme.4 May be involved in cellular transformation. Cell membrane; Multi-pass membrane protein (By similarity). Ubiquitous. Expression levels were increased fourfold to tenfold in lung tumor tissues compared with normal pulmonary tissues. N-glycosylated (By similarity). Belongs to the TDE1 family. Sequence=AAB48858.1; Type=Frameshift; Positions=321, 393, 407, 459; Sequence=AAD34641.1; Type=Frameshift; Positions=321, 393, 407, 459; Golgi membrane immune system process cytoplasm Golgi apparatus plasma membrane L-serine biosynthetic process phosphatidylserine metabolic process sphingolipid metabolic process detection of virus membrane integral component of membrane innate immune response perinuclear region of cytoplasm defense response to virus positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway uc002xme.1 uc002xme.2 uc002xme.3 uc002xme.4 
ENST00000255183.8 LINC01260 ENST00000255183.8 Homo sapiens long intergenic non-protein coding RNA 1260 (LINC01260), long non-coding RNA. (from RefSeq NR_034104) ENST00000255183.1 ENST00000255183.2 ENST00000255183.3 ENST00000255183.4 ENST00000255183.5 ENST00000255183.6 ENST00000255183.7 NR_034104 uc061xfr.1 uc061xfr.1 
ENST00000255189.8 DMGDH ENST00000255189.8 Homo sapiens dimethylglycine dehydrogenase (DMGDH), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_013391) B2RBN0 ENST00000255189.1 ENST00000255189.2 ENST00000255189.3 ENST00000255189.4 ENST00000255189.5 ENST00000255189.6 ENST00000255189.7 M2GD_HUMAN NM_013391 Q9UI17 uc003kfs.1 uc003kfs.2 uc003kfs.3 uc003kfs.4 uc003kfs.5 uc003kfs.6 This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. N,N-dimethylglycine + electron-transfer flavoprotein + H(2)O = sarcosine + formaldehyde + reduced electron-transfer flavoprotein. Binds 1 FAD covalently per monomer. Amine and polyamine degradation; betaine degradation; sarcosine from betaine: step 2/2. Monomer. Mitochondrion. Defects in DMGDH are the cause of DMGDH deficiency (DMGDHD) [MIM:605850]. DMGDHD is a disorder characterized by fish odor, muscle fatigue with increased serum creatine kinase. Biochemically it is characterized by an increase of N,N- dimethylglycine (DMG) in serum and urine. Belongs to the GcvT family. RNA binding cytoplasm mitochondrion mitochondrial matrix amino-acid betaine catabolic process electron carrier activity oxidoreductase activity choline metabolic process electron transport chain choline catabolic process dimethylglycine dehydrogenase activity oxidation-reduction process uc003kfs.1 uc003kfs.2 uc003kfs.3 uc003kfs.4 uc003kfs.5 uc003kfs.6 
ENST00000255192.8 BHMT2 ENST00000255192.8 Homo sapiens betaine--homocysteine S-methyltransferase 2 (BHMT2), transcript variant 1, mRNA. (from RefSeq NM_017614) B7Z516 BHMT2_HUMAN ENST00000255192.1 ENST00000255192.2 ENST00000255192.3 ENST00000255192.4 ENST00000255192.5 ENST00000255192.6 ENST00000255192.7 NM_017614 Q9H2M3 Q9NXX7 uc003kft.1 uc003kft.2 uc003kft.3 uc003kft.4 uc003kft.5 Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]. Involved in the regulation of homocysteine metabolism. Converts homocysteine to methionine using S-methylmethionine (SMM) as a methyl donor. Trimethylammonioacetate + L-homocysteine = dimethylglycine + L-methionine. Binds 1 zinc ion per subunit. Amine and polyamine degradation; betaine degradation; sarcosine from betaine: step 1/2. Amino-acid biosynthesis; L-methionine biosynthesis via de novo pathway; L-methionine from L-homocysteine (BhmT route): step 1/1. Homotetramer (By similarity). May interact with PRNP. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H2M3-1; Sequence=Displayed; Name=2; IsoId=Q9H2M3-2; Sequence=VSP_042938; Note=No experimental confirmation available; Expressed in liver and kidney and at reduced levels in the brain, heart, and skeletal muscle. Contains 1 Hcy-binding domain. Sequence=BAA90880.1; Type=Erroneous initiation; sulfur amino acid metabolic process cytosol methyltransferase activity zinc ion binding methionine biosynthetic process transferase activity methylation S-methylmethionine metabolic process S-adenosylmethionine metabolic process metal ion binding betaine-homocysteine S-methyltransferase activity S-methylmethionine-homocysteine S-methyltransferase activity extracellular exosome L-methionine salvage amino-acid betaine metabolic process uc003kft.1 uc003kft.2 uc003kft.3 uc003kft.4 uc003kft.5 
ENST00000255194.11 AP3B1 ENST00000255194.11 Homo sapiens adaptor related protein complex 3 subunit beta 1 (AP3B1), transcript variant 1, mRNA. (from RefSeq NM_003664) ADTB3A AP3B1_HUMAN ENST00000255194.1 ENST00000255194.10 ENST00000255194.2 ENST00000255194.3 ENST00000255194.4 ENST00000255194.5 ENST00000255194.6 ENST00000255194.7 ENST00000255194.8 ENST00000255194.9 NM_003664 O00203 O00580 Q7Z393 Q9HD66 uc003kfj.1 uc003kfj.2 uc003kfj.3 uc003kfj.4 uc003kfj.5 uc003kfj.6 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]. Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. AP-3 associates with the BLOC-1 complex (By similarity). Adaptor protein complex 3 (AP-3) is an heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2). Golgi apparatus. Cytoplasmic vesicle, clathrin-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Golgi apparatus (By similarity). Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O00203-1; Sequence=Displayed; Name=2; IsoId=O00203-2; Sequence=VSP_009233; Note=May be due to a competing donor splice site. No experimental confirmation available; Ubiquitously expressed. Phosphorylated on serine residues. Defects in AP3B1 are the cause of Hermansky-Pudlak syndrome type 2 (HPS2) [MIM:608233]. Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS2 differs from the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 have an increased susceptibility to infections. Belongs to the adaptor complexes large subunit family. Name=AP3B1base; Note=AP3B1 mutation db; URL="http://bioinf.uta.fi/AP3B1base/"; Name=Mutations of the ADTB3A gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/adtb3mut.htm"; Name=Albinism database (ADB); Note=AP3B1 mutations; URL="http://albinismdb.med.umn.edu/hps2mut.htm"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AP3B1"; protein binding lysosomal membrane Golgi apparatus protein targeting to lysosome intracellular protein transport blood coagulation anterograde axonal transport protein transport membrane synaptic vesicle budding from endosome vesicle-mediated transport antigen processing and presentation protein phosphatase binding membrane coat AP-3 adaptor complex clathrin adaptor complex clathrin-coated vesicle membrane GTP-dependent protein binding cytoplasmic vesicle melanosome organization synapse antigen processing and presentation, exogenous lipid antigen via MHC class Ib anterograde synaptic vesicle transport positive regulation of NK T cell differentiation axon cytoplasm uc003kfj.1 uc003kfj.2 uc003kfj.3 uc003kfj.4 uc003kfj.5 uc003kfj.6 
ENST00000255198.3 ZBED3 ENST00000255198.3 Homo sapiens zinc finger BED-type containing 3 (ZBED3), transcript variant 1, mRNA. (from RefSeq NM_032367) ENST00000255198.1 ENST00000255198.2 NM_032367 Q96IU2 ZBED3_HUMAN uc003kev.1 uc003kev.2 uc003kev.3 This gene belongs to a class of genes that arose through hAT DNA transposition and that encode regulatory proteins. This gene is upregulated in lung cancer tissues, where the encoded protein causes an accumulation of beta-catenin and enhanced lung cancer cell invasion. In addition, the encoded protein can be secreted and be involved in resistance to insulin. [provided by RefSeq, Jul 2016]. Contains 1 BED-type zinc finger. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding negative regulation of protein phosphorylation DNA binding cytoplasm cytosol membrane Wnt signaling pathway positive regulation of transcription from RNA polymerase II promoter metal ion binding protein stabilization positive regulation of canonical Wnt signaling pathway uc003kev.1 uc003kev.2 uc003kev.3 
ENST00000255224.8 SYT4 ENST00000255224.8 Homo sapiens synaptotagmin 4 (SYT4), mRNA. (from RefSeq NM_020783) ENST00000255224.1 ENST00000255224.2 ENST00000255224.3 ENST00000255224.4 ENST00000255224.5 ENST00000255224.6 ENST00000255224.7 KIAA1342 NM_020783 Q9H2B2 Q9P2K4 SYT4_HUMAN uc002law.1 uc002law.2 uc002law.3 uc002law.4 uc002law.5 May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Binds 3 calcium ions per subunit. The ions are bound to the C2 domains (By similarity). Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Single-pass membrane protein. Expressed in brain. Within brain, expression is highest in hippocampus, with substantial levels also detected in amygdala and thalamus. Belongs to the synaptotagmin family. Contains 2 C2 domains. Sequence=BAA92580.1; Type=Erroneous initiation; SNARE binding phosphatidylserine binding calcium ion binding protein binding calcium-dependent phospholipid binding Golgi apparatus plasma membrane exocytosis neurotransmitter secretion brain development memory synaptic vesicle positive regulation of glutamate secretion regulation of dopamine secretion membrane integral component of membrane vesicle-mediated transport syntaxin-1 binding calcium ion regulated exocytosis regulation of calcium ion-dependent exocytosis syntaxin binding cell junction regulation of endocytosis cell differentiation integral component of Golgi membrane clathrin binding integral component of synaptic vesicle membrane syntaxin-3 binding axon dendrite secretory granule membrane synaptic vesicle membrane dense core granule regulation of vesicle fusion negative regulation of vesicle fusion cytoplasmic vesicle vesicle dense core granule membrane negative regulation of catecholamine secretion somatodendritic compartment protein homodimerization activity neuron projection neuronal cell body intracellular membrane-bounded organelle neuron projection terminus synapse negative regulation of calcium ion-dependent exocytosis positive regulation of calcium ion-dependent exocytosis metal ion binding negative regulation of neurotransmitter secretion protein heterodimerization activity negative regulation of short-term neuronal synaptic plasticity perinuclear region of cytoplasm negative regulation of protein secretion vesicle fusion with vesicle secretory granule maturation exocytic vesicle cellular response to calcium ion astrocyte projection glutamatergic synapse integral component of neuronal dense core vesicle membrane positive regulation of dendrite extension negative regulation of dense core granule exocytosis positive regulation of dense core granule exocytosis negative regulation of retrograde trans-synaptic signaling by neuropeptide microvesicle negative regulation of synaptic vesicle exocytosis uc002law.1 uc002law.2 uc002law.3 uc002law.4 uc002law.5 
ENST00000255262.4 NMUR2 ENST00000255262.4 Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA. (from RefSeq NM_020167) ENST00000255262.1 ENST00000255262.2 ENST00000255262.3 NMU2R NMUR2_HUMAN NM_020167 Q7LC54 Q96AM5 Q9GZQ4 Q9NRA6 TGR1 uc003luv.1 uc003luv.2 uc003luv.3 uc003luv.4 This gene encodes a protein from the G-protein coupled receptor 1 family. This protein is a receptor for neuromedin U, which is a neuropeptide that is widely distributed in the gut and central nervous system. This receptor plays an important role in the regulation of food intake and body weight. [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 :: BC067776.1, AF272363.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000255262.4/ ENSP00000255262.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Receptor for the neuromedin-U and neuromedin-S neuropeptides (By similarity). Cell membrane; Multi-pass membrane protein. Predominantly expressed in the CNS, particularly in the medulla oblongata, pontine reticular formation, spinal cord, and thalamus. High level in testis whereas lower levels are present in a variety of peripheral tissues including the gastrointestinal tract, genitourinary tract, liver, pancreas, adrenal gland, thyroid gland, lung, trachea, spleen and thymus. Belongs to the G-protein coupled receptor 1 family. It is uncertain whether Met-1 or Met-4 is the initiator. Sequence=BAB13721.1; Type=Erroneous initiation; Note=Translation N-terminally extended; neuromedin U receptor activity reduction of food intake in response to dietary excess G-protein coupled receptor activity intracellular calcium activated chloride channel activity protein binding GTP binding plasma membrane calcium ion transport regulation of smooth muscle contraction signal transduction G-protein coupled receptor signaling pathway phospholipase C-activating G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration neuropeptide signaling pathway cell-cell signaling central nervous system development grooming behavior feeding behavior neuropeptide receptor activity membrane integral component of membrane calcium-mediated signaling ion transmembrane transport neuromedin U binding activation of phospholipase A2 activity by calcium-mediated signaling inositol phosphate-mediated signaling response to pain arachidonic acid secretion regulation of sensory perception of pain uc003luv.1 uc003luv.2 uc003luv.3 uc003luv.4 
ENST00000255266.10 PDE6A ENST00000255266.10 Homo sapiens phosphodiesterase 6A (PDE6A), mRNA. (from RefSeq NM_000440) ENST00000255266.1 ENST00000255266.2 ENST00000255266.3 ENST00000255266.4 ENST00000255266.5 ENST00000255266.6 ENST00000255266.7 ENST00000255266.8 ENST00000255266.9 NM_000440 P16499 PDE6A_HUMAN PDEA Q0P638 uc003lrg.1 uc003lrg.2 uc003lrg.3 uc003lrg.4 uc003lrg.5 This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M26061.1, BC035909.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968540, SAMEA1968832 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000255266.10/ ENSP00000255266.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## This protein participates in processes of transmission and amplification of the visual signal. Guanosine 3',5'-cyclic phosphate + H(2)O = guanosine 5'-phosphate. Binds 2 divalent metal cations per subunit. Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions (By similarity). Oligomer composed of two catalytic chains (alpha and beta), an inhibitory chain (gamma) and the delta chain. Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Defects in PDE6A are the cause of retinitis pigmentosa type 43 (RP43) [MIM:613810]. RP43 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Belongs to the cyclic nucleotide phosphodiesterase family. Contains 2 GAF domains. Name=Mutations of the PDE6A/B/G genes; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/pdemut.htm"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PDE6A"; 3',5'-cyclic-nucleotide phosphodiesterase activity plasma membrane signal transduction G-protein coupled receptor signaling pathway Wnt signaling pathway, calcium modulating pathway visual perception phosphoric diester hydrolase activity membrane rhodopsin mediated signaling pathway hydrolase activity regulation of rhodopsin mediated signaling pathway metal ion binding 3',5'-cyclic-GMP phosphodiesterase activity response to stimulus regulation of cytosolic calcium ion concentration retina development in camera-type eye photoreceptor disc membrane uc003lrg.1 uc003lrg.2 uc003lrg.3 uc003lrg.4 uc003lrg.5 
ENST00000255304.9 USPL1 ENST00000255304.9 Homo sapiens ubiquitin specific peptidase like 1 (USPL1), transcript variant 1, mRNA. (from RefSeq NM_005800) C13orf22 D13S106 ENST00000255304.1 ENST00000255304.2 ENST00000255304.3 ENST00000255304.4 ENST00000255304.5 ENST00000255304.6 ENST00000255304.7 ENST00000255304.8 NM_005800 Q14109 Q5W0Q7 Q6AI45 Q8IY30 Q8IYE8 USPL1_HUMAN uc001utc.1 uc001utc.2 uc001utc.3 uc001utc.4 SUMO-specific isopeptidase involved in protein desumoylation. Specifically binds SUMO proteins with a higher affinity for SUMO2 and SUMO3 which it cleaves more efficiently. Also able to process full-length SUMO proteins to their mature forms. May have non-catalytic functions in Cajal bodies organization and cell proliferation. Nucleus, Cajal body. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q5W0Q7-1; Sequence=Displayed; Name=2; IsoId=Q5W0Q7-2; Sequence=VSP_023479; Note=No experimental confirmation available; Belongs to the peptidase C19 family. protein binding extracellular space nucleus proteolysis peptidase activity cysteine-type peptidase activity cell proliferation snRNA transcription Cajal body hydrolase activity protein desumoylation Cajal body organization SUMO binding SUMO-specific isopeptidase activity ubiquitin binding uc001utc.1 uc001utc.2 uc001utc.3 uc001utc.4 
ENST00000255305.11 XPO4 ENST00000255305.11 Homo sapiens exportin 4 (XPO4), transcript variant 1, mRNA. (from RefSeq NM_022459) ENST00000255305.1 ENST00000255305.10 ENST00000255305.2 ENST00000255305.3 ENST00000255305.4 ENST00000255305.5 ENST00000255305.6 ENST00000255305.7 ENST00000255305.8 ENST00000255305.9 KIAA1721 NM_022459 Q5VUZ5 Q8N3V6 Q9C0E2 Q9H934 XPO4_HUMAN uc001unq.1 uc001unq.2 uc001unq.3 uc001unq.4 uc001unq.5 uc001unq.6 XPO4 belongs to a large family of karyopherins (see MIM 602738) that mediate the transport of proteins and other cargo between the nuclear and cytoplasmic compartments (Lipowsky et al., 2000 [PubMed 10944119]).[supplied by OMIM, 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 :: SRR1803617.130705.1, AB051508.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Mediates the nuclear export of proteins (cargos) with broad substrate specificity. In the nucleus binds cooperatively to its cargo and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the cargo from the export receptor. XPO4 then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Found in a complex with XPO4, Ran and EIF5A. Found in a complex with XPO4, Ran and SMAD3. Interacts with SMAD3. Interacts with Ran and cargo proteins in a GTP-dependent manner. Cytoplasm. Nucleus. Note=Shuttles between the nucleus and the cytoplasm. Belongs to the exportin family. Sequence=BAB14409.1; Type=Erroneous initiation; nuclear export signal receptor activity protein binding nucleus nuclear pore nucleoplasm cytoplasm cytosol protein export from nucleus protein transport positive regulation of protein export from nucleus uc001unq.1 uc001unq.2 uc001unq.3 uc001unq.4 uc001unq.5 uc001unq.6 
ENST00000255324.10 RNF17 ENST00000255324.10 Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. (from RefSeq NM_031277) ENST00000255324.1 ENST00000255324.2 ENST00000255324.3 ENST00000255324.4 ENST00000255324.5 ENST00000255324.6 ENST00000255324.7 ENST00000255324.8 ENST00000255324.9 NM_031277 Q5T2J9 Q6P1W3 Q9BXT7 Q9BXT8 Q9NUY9 RNF17_HUMAN TDRD4 uc001upr.1 uc001upr.2 uc001upr.3 uc001upr.4 uc001upr.5 This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, May 2010]. Seems to be involved in regulation of transcriptional activity of MYC. In vitro, inhibits DNA-binding activity of Mad- MAX heterodimers. Can recruit Mad transcriptional repressors (MXD1, MXD3, MXD4 and MXI1) to the cytoplasm. May be involved in spermiogenesis (By similarity). Interacts with MXD1, MXD3, MXD4, MXI1 and PIWIL1. Self- associates (By similarity). Cytoplasm (By similarity). Nucleus (By similarity). Note=Predominantly found in the cytoplasm. Component of a nuage in male germ cells (an electron-dense spherical cytoplasmic body present in late pachytene and diplotene spermatocytes and in elonging spermatids) (By similarity). Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q9BXT8-3; Sequence=Displayed; Note=No experimental confirmation available; Name=2; IsoId=Q9BXT8-1; Sequence=VSP_033073, VSP_033074; Name=3; IsoId=Q9BXT8-2; Sequence=VSP_005753, VSP_005754; Name=4; IsoId=Q9BXT8-4; Sequence=VSP_033076; Name=5; IsoId=Q9BXT8-5; Sequence=VSP_033075; Testis specific. Contains 1 RING-type zinc finger. Contains 4 Tudor domains. Sequence=AAH64847.1; Type=Erroneous initiation; Sequence=BAA91972.1; Type=Erroneous initiation; nucleus cytoplasm multicellular organism development spermatogenesis spermatid development cell differentiation protein homodimerization activity metal ion binding uc001upr.1 uc001upr.2 uc001upr.3 uc001upr.4 uc001upr.5 
ENST00000255381.2 MYH4 ENST00000255381.2 Homo sapiens myosin heavy chain 4 (MYH4), mRNA. (from RefSeq NM_017533) ENST00000255381.1 MYH4_HUMAN NM_017533 Q9Y623 uc002gmn.1 uc002gmn.2 uc002gmn.3 uc002gmn.4 Muscle contraction. Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2). Cytoplasm, myofibril. Note=Thick filaments of the myofibrils. The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils. Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can later be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2). Contains 1 IQ domain. Contains 1 myosin head-like domain. Represents a conventional myosin. This protein should not be confused with the unconventional myosin-4 (MYO4). microfilament motor activity nucleotide binding double-stranded RNA binding motor activity actin binding calmodulin binding ATP binding cytoplasm muscle myosin complex muscle contraction myosin complex ATPase activity myofibril sarcomere actin filament-based movement muscle filament sliding myosin filament ATP metabolic process actin filament binding uc002gmn.1 uc002gmn.2 uc002gmn.3 uc002gmn.4 
ENST00000255390.10 SCO1 ENST00000255390.10 Homo sapiens synthesis of cytochrome C oxidase 1 (SCO1), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_004589) B2RDM0 ENST00000255390.1 ENST00000255390.2 ENST00000255390.3 ENST00000255390.4 ENST00000255390.5 ENST00000255390.6 ENST00000255390.7 ENST00000255390.8 ENST00000255390.9 NM_004589 O75880 SCO1_HUMAN SCOD1 uc002gmr.1 uc002gmr.2 uc002gmr.3 uc002gmr.4 uc002gmr.5 uc002gmr.6 Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog to the yeast SCO1 gene. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.206426.1, SRR1803615.241066.1 [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 :: ENST00000255390.10/ ENSP00000255390.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Thought to play a role in cellular copper homeostasis, mitochondrial redox signaling or insertion of copper into the active site of COX. Homodimer. Mitochondrion. Predominantly expressed in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle, heart, and brain. Defects in SCO1 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. Belongs to the SCO1/2 family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SCO1"; copper ion binding protein binding mitochondrion mitochondrial inner membrane copper ion transport cellular copper ion homeostasis respiratory chain complex IV assembly membrane integral component of membrane myofibril integral component of mitochondrial inner membrane mitochondrial respiratory chain complex IV assembly metal ion binding host cell mitochondrial intermembrane space negative regulation of proteasomal protein catabolic process uc002gmr.1 uc002gmr.2 uc002gmr.3 uc002gmr.4 uc002gmr.5 uc002gmr.6 
ENST00000255409.8 CHI3L1 ENST00000255409.8 Homo sapiens chitinase 3 like 1 (CHI3L1), mRNA. (from RefSeq NM_001276) B2R7B0 CH3L1_HUMAN ENST00000255409.1 ENST00000255409.2 ENST00000255409.3 ENST00000255409.4 ENST00000255409.5 ENST00000255409.6 ENST00000255409.7 NM_001276 P30923 P36222 Q8IVA4 Q96HI7 uc001gzi.1 uc001gzi.2 uc001gzi.3 uc001gzi.4 Chitinases catalyze the hydrolysis of chitin, which is an abundant glycopolymer found in insect exoskeletons and fungal cell walls. The glycoside hydrolase 18 family of chitinases includes eight human family members. This gene encodes a glycoprotein member of the glycosyl hydrolase 18 family. The protein lacks chitinase activity and is secreted by activated macrophages, chondrocytes, neutrophils and synovial cells. The protein is thought to play a role in the process of inflammation and tissue remodeling. [provided by RefSeq, Sep 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK130142.1, AK225266.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000255409.8/ ENSP00000255409.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Carbohydrate-binding lectin with a preference for chitin. May play a role in defense against pathogens, or in tissue remodeling. May play an important role in the capacity of cells to respond to and cope with changes in their environment. Monomer. Secreted, extracellular space. Present in activated macrophages, articular chondrocytes, synovial cells as well as in liver. Undetectable in muscle tissues, lung, pancreas, mononuclear cells, or fibroblasts. Glycosylated. A genetic variation in CHI3L1 is associated with susceptibility to asthma-related traits type 7 (ASRT7) [MIM:611960]. Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing and dyspnea, bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test, serum IgE levels, atopy, and atopic dermatitis. Belongs to the glycosyl hydrolase 18 family. extracellular matrix structural constituent protein binding extracellular region extracellular space cytoplasm endoplasmic reticulum carbohydrate metabolic process apoptotic process inflammatory response activation of NF-kappaB-inducing kinase activity chitin binding response to mechanical stimulus positive regulation of peptidyl-threonine phosphorylation carbohydrate binding lung development extracellular matrix response to tumor necrosis factor specific granule lumen neutrophil degranulation positive regulation of angiogenesis perinuclear region of cytoplasm cartilage development positive regulation of protein kinase B signaling extracellular exosome positive regulation of ERK1 and ERK2 cascade response to interleukin-1 response to interleukin-6 cellular response to interleukin-1 cellular response to tumor necrosis factor interleukin-8 secretion chitinase activity uc001gzi.1 uc001gzi.2 uc001gzi.3 uc001gzi.4 
ENST00000255416.9 MYBPH ENST00000255416.9 Homo sapiens myosin binding protein H (MYBPH), mRNA. (from RefSeq NM_004997) ENST00000255416.1 ENST00000255416.2 ENST00000255416.3 ENST00000255416.4 ENST00000255416.5 ENST00000255416.6 ENST00000255416.7 ENST00000255416.8 MYBPH_HUMAN NM_004997 Q13203 Q16886 Q86YC5 uc001gzh.1 uc001gzh.2 uc001gzh.3 Binds to myosin; probably involved in interaction with thick myofilaments in the A-band. Q8WZ42:TTN; NbExp=3; IntAct=EBI-5655165, EBI-681210; Skeletal muscle. Belongs to the immunoglobulin superfamily. MyBP family. Contains 2 fibronectin type-III domains. Contains 2 Ig-like C2-type (immunoglobulin-like) domains. protein binding regulation of striated muscle contraction cell adhesion structural constituent of muscle myosin filament uc001gzh.1 uc001gzh.2 uc001gzh.3 
ENST00000255476.3 RFXAP ENST00000255476.3 Homo sapiens regulatory factor X associated protein (RFXAP), mRNA. (from RefSeq NM_000538) B2R9T8 ENST00000255476.1 ENST00000255476.2 NM_000538 O00287 Q5VZM6 Q8TC40 RFXAP_HUMAN uc001uvu.1 uc001uvu.2 uc001uvu.3 Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated ankyrin-containing protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because transcript sequence consistent with the reference genome assembly was not available for all regions of the RefSeq transcript. 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 :: BC026088.1, AK313912.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000255476.3/ ENSP00000255476.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Part of the RFX complex that binds to the X-box of MHC II promoters. The RFX heterotetrameric complex consists of 2 molecules of RFX5 and one each of RFXAP and RFX-B/RFXANK; with each subunit representing a separate complementation group. RFX forms cooperative DNA binding complexes with X2BP and CBF/NF-Y. RFX associates with CIITA to form an active transcriptional complex. Nucleus. Ubiquitous. The C-terminal domain is necessary for the RFX complex formation. Phosphorylated. Defects in RFXAP are a cause of bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]; also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency. BLS2 is a severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections. Name=RFXAPbase; Note=RFXAP mutation db; URL="http://bioinf.uta.fi/RFXAPbase/"; DNA binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity nucleus nuclear speck positive regulation of transcription, DNA-templated uc001uvu.1 uc001uvu.2 uc001uvu.3 
ENST00000255499.3 RNF128 ENST00000255499.3 Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA. (from RefSeq NM_194463) ENST00000255499.1 ENST00000255499.2 GRAIL NM_194463 Q6PH80 Q6ZTJ8 Q8TEB7 Q96RF3 Q9H5E4 RN128_HUMAN uc004eml.1 uc004eml.2 uc004eml.3 uc004eml.4 uc004eml.5 The protein encoded by this gene is a type I transmembrane protein that localizes to the endocytic pathway. This protein contains a RING zinc-finger motif and has been shown to possess E3 ubiquitin ligase activity. Expression of this gene in retrovirally transduced T cell hybridoma significantly inhibits activation-induced IL2 and IL4 cytokine production. Induced expression of this gene was observed in anergic CD4(+) T cells, which suggested a role in the induction of anergic phenotype. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. E3 ubiquitin-protein ligase that catalyzes polyubiquitin chains. Functions as an inhibitor of cytokine gene transcription. Inhibits IL2 and IL4 transcription and this activity is likely to be mediated by E3 ligase activity. Plays an important role in the induction of the anergic phenotype. Functions in the patterning of the dorsal ectoderm; sensitizes ectoderm to respond to neural- inducing signals (By similarity). Protein modification; protein ubiquitination. Endomembrane system; Single-pass membrane protein (By similarity). Cytoplasm, perinuclear region (By similarity). Note=Localized in an asymmetric perinuclear punctate manner. Localizes to the internal pool of the transferrin recycling endosomal pathway. Partially colocalized with the endoplasmic reticulum resident HSPA5, with Golgi resident STX5, and with the late endosomal GTPase RAB7A (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8TEB7-1; Sequence=Displayed; Name=2; IsoId=Q8TEB7-2; Sequence=VSP_021685; Note=No experimental confirmation available; Induced under anergic conditions. Up-regulated during T-cell anergy induction following signaling through the T-cell antigen receptor. Binding to E2 ubiquitin-conjugating enzyme requires an intact RING finger domain. Auto-ubiquitinated. Controls the development of T-cell clonal anergy by ubiquitination. Contains 1 PA (protease associated) domain. Contains 1 RING-type zinc finger. Sequence=BAB15682.1; Type=Frameshift; Positions=291; protein binding cytoplasm late endosome endoplasmic reticulum Golgi apparatus cytosol cytoskeleton ubiquitin-dependent protein catabolic process endomembrane system membrane integral component of membrane protein ubiquitination protein deubiquitination transferase activity regulation of protein stability negative regulation of cytokine biosynthetic process metal ion binding perinuclear region of cytoplasm protein localization to lysosome ubiquitin protein ligase activity positive regulation of protein catabolic process in the vacuole uc004eml.1 uc004eml.2 uc004eml.3 uc004eml.4 uc004eml.5 
ENST00000255559.8 SLC39A11 ENST00000255559.8 Homo sapiens solute carrier family 39 member 11 (SLC39A11), transcript variant 2, mRNA. (from RefSeq NM_139177) B2R8H7 C17orf26 ENST00000255559.1 ENST00000255559.2 ENST00000255559.3 ENST00000255559.4 ENST00000255559.5 ENST00000255559.6 ENST00000255559.7 NM_139177 Q8N1S5 Q8WZ81 S39AB_HUMAN ZIP11 uc002jja.1 uc002jja.2 uc002jja.3 uc002jja.4 uc002jja.5 May act as a zinc-influx transporter (By similarity). Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8N1S5-1; Sequence=Displayed; Name=2; IsoId=Q8N1S5-2; Sequence=VSP_028976; Belongs to the ZIP transporter (TC 2.A.5) family. zinc ion transmembrane transporter activity nucleus cytoplasm Golgi apparatus plasma membrane ion transport zinc II ion transport membrane integral component of membrane metal ion transport metal ion transmembrane transporter activity transmembrane transport zinc II ion transmembrane transport uc002jja.1 uc002jja.2 uc002jja.3 uc002jja.4 uc002jja.5 
ENST00000255608.9 BTBD2 ENST00000255608.9 Homo sapiens BTB domain containing 2 (BTBD2), mRNA. (from RefSeq NM_017797) BTBD2_HUMAN ENST00000255608.1 ENST00000255608.2 ENST00000255608.3 ENST00000255608.4 ENST00000255608.5 ENST00000255608.6 ENST00000255608.7 ENST00000255608.8 NM_017797 O60418 O75248 Q4VBZ1 Q6IAC5 Q7Z5W0 Q96SX8 Q9BX70 Q9NPS1 Q9NX81 uc002lup.1 uc002lup.2 uc002lup.3 The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF355797.1, BC094820.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142680 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000255608.9/ ENSP00000255608.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Interacts with topoisomerase 1 and with TRIM5 isoform Delta. Q7L5N1:COPS6; NbExp=2; IntAct=EBI-710091, EBI-486838; P04637:TP53; NbExp=2; IntAct=EBI-710091, EBI-366083; Cytoplasm, P-body. Note=Cytoplasmic bodies. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BX70-1; Sequence=Displayed; Name=2; IsoId=Q9BX70-2; Sequence=VSP_010562; Contains 1 BTB (POZ) domain. Sequence=AAC16070.1; Type=Erroneous gene model prediction; Sequence=BAB55143.1; Type=Erroneous initiation; P-body protein binding cytoplasm cytosol neurogenesis uc002lup.1 uc002lup.2 uc002lup.3 
ENST00000255613.8 KMT5C ENST00000255613.8 Homo sapiens lysine methyltransferase 5C (KMT5C), mRNA. (from RefSeq NM_032701) ENST00000255613.1 ENST00000255613.2 ENST00000255613.3 ENST00000255613.4 ENST00000255613.5 ENST00000255613.6 ENST00000255613.7 NM_032701 PP7130 Q86Y97 Q8WZ10 Q9BRZ6 SUV420H2 SV422_HUMAN uc002qkj.1 uc002qkj.2 uc002qkj.3 uc002qkj.4 uc002qkj.5 uc002qkj.6 SUV420H2 and the related enzyme SUV420H1 (MIM 610881) function as histone methyltransferases that specifically trimethylate nucleosomal histone H4 (see MIM 602822) on lysine-20 (K20) (Schotta et al., 2004 [PubMed 15145825]).[supplied by OMIM, Dec 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC044889.1, SRR3476690.629103.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000255613.8/ ENSP00000255613.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Histone methyltransferase that specifically trimethylates 'Lys-20' of histone H4. H4 'Lys-20' trimethylation represents a specific tag for epigenetic transcriptional repression. Mainly functions in pericentric heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin in these regions. SUV420H1 is targeted to histone H3 via its interaction with RB1 family proteins (RB1, RBL1 and RBL2) (By similarity). S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone]. Interacts with HP1 proteins CBX1, CBX3 and CBX5. Interacts with RB1 family proteins RB1, RBL1 and RBL2 (By similarity). Nucleus. Chromosome (By similarity). Note=Associated with pericentric heterochromatin. CBX1 and CBX5 are required for the localization to pericentric heterochromatin (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q86Y97-1; Sequence=Displayed; Name=2; IsoId=Q86Y97-2; Sequence=VSP_043947, VSP_043948; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Name=3; IsoId=Q86Y97-3; Sequence=VSP_024059; Note=No experimental confirmation available; Belongs to the histone-lysine methyltransferase family. Suvar4-20 subfamily. Contains 1 SET domain. Sequence=AAH05842.1; Type=Erroneous translation; Note=Wrong choice of CDS; condensed nuclear chromosome, centromeric region protein binding nucleus nucleoplasm chromosome nuclear heterochromatin pericentric heterochromatin chromatin organization methyltransferase activity histone methylation transferase activity histone-lysine N-methyltransferase activity methylation histone H4-K20 trimethylation histone methyltransferase activity (H4-K20 specific) uc002qkj.1 uc002qkj.2 uc002qkj.3 uc002qkj.4 uc002qkj.5 uc002qkj.6 
ENST00000255631.9 HSPBP1 ENST00000255631.9 Homo sapiens HSPA (Hsp70) binding protein 1 (HSPBP1), transcript variant 2, mRNA. (from RefSeq NM_001130106) B3KQP0 ENST00000255631.1 ENST00000255631.2 ENST00000255631.3 ENST00000255631.4 ENST00000255631.5 ENST00000255631.6 ENST00000255631.7 ENST00000255631.8 HPBP1_HUMAN HSPBP NM_001130106 O95351 PP1845 Q6ZNU5 Q9NZL4 uc002qkd.1 uc002qkd.2 uc002qkd.3 uc002qkd.4 Inhibits HSPA1A chaperone activity by changing the conformation of the ATP-binding domain of HSPA1A and interfering with ATP binding. Interferes with ubiquitination mediated by STUB1 and inhibits chaperone-assisted degradation of immature CFTR. Interacts with the ATP-binding domain of HSPA1A. Detected in a ternary complex containing STUB1, HSPA1A and HSPBP1. P54652:HSPA2; NbExp=3; IntAct=EBI-356763, EBI-356991; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NZL4-1; Sequence=Displayed; Name=2; IsoId=Q9NZL4-2; Sequence=VSP_015945; Note=No experimental confirmation available; Ubiquitous. Contains 4 ARM repeats. adenyl-nucleotide exchange factor activity enzyme inhibitor activity protein binding cytoplasm endoplasmic reticulum protein folding positive regulation of protein ubiquitination ubiquitin protein ligase binding positive regulation of proteasomal ubiquitin-dependent protein catabolic process negative regulation of catalytic activity regulation of catalytic activity uc002qkd.1 uc002qkd.2 uc002qkd.3 uc002qkd.4 
ENST00000255641.13 CSNK1G2 ENST00000255641.13 Homo sapiens casein kinase 1 gamma 2 (CSNK1G2), mRNA. (from RefSeq NM_001319) B5BU42 CK1G2 ENST00000255641.1 ENST00000255641.10 ENST00000255641.11 ENST00000255641.12 ENST00000255641.2 ENST00000255641.3 ENST00000255641.4 ENST00000255641.5 ENST00000255641.6 ENST00000255641.7 ENST00000255641.8 ENST00000255641.9 KC1G2_HUMAN NM_001319 O00704 P78368 Q8WUB1 uc002lul.1 uc002lul.2 uc002lul.3 uc002lul.4 uc002lul.5 uc002lul.6 Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling (By similarity). Phosphorylates COL4A3BP/CERT, MTA1 and SMAD3. Involved in brain development and vesicular trafficking and neurotransmitter releasing from small synaptic vesicles. Regulates fast synaptic transmission mediated by glutamate. SMAD3 phosphorylation promotes its ligand-dependent ubiquitination and subsequent proteasome degradation, thus inhibiting SMAD3-mediated TGF-beta responses. Hyperphosphorylation of the serine-repeat motif of COL4A3BP/CERT leads to its inactivation by dissociation from the Golgi complex, thus down-regulating ER-to-Golgi transport of ceramide and sphingomyelin synthesis. ATP + a protein = ADP + a phosphoprotein. Stimulated by estrogen. Repressed by 5- iodotubercidin (DB04604). Monomer (By similarity). Interacts with MTA1 (short isoform) in the cytoplasm. Binds to PER1 and triggers its proteasomal degradation. Interacts with SMAD3. Cytoplasm. Testis. Autophosphorylated (By similarity). Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. Casein kinase I subfamily. Contains 1 protein kinase domain. nucleotide binding protein kinase activity protein serine/threonine kinase activity protein binding ATP binding nucleus cytoplasm cytosol plasma membrane protein phosphorylation signal transduction membrane Wnt signaling pathway kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation sphingolipid biosynthetic process protein autophosphorylation positive regulation of canonical Wnt signaling pathway uc002lul.1 uc002lul.2 uc002lul.3 uc002lul.4 uc002lul.5 uc002lul.6 
ENST00000255681.7 MACROD1 ENST00000255681.7 Homo sapiens mono-ADP ribosylhydrolase 1 (MACROD1), mRNA. (from RefSeq NM_014067) ENST00000255681.1 ENST00000255681.2 ENST00000255681.3 ENST00000255681.4 ENST00000255681.5 ENST00000255681.6 LRP16 MACD1_HUMAN NM_014067 Q9BQ69 Q9UH96 uc001nyh.1 uc001nyh.2 uc001nyh.3 uc001nyh.4 uc001nyh.5 Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins. Plays a role in estrogen signaling. Binds to androgen receptor (AR) and amplifies the transactivation function of AR in response to androgen. May play an important role in carcinogenesis and/or progression of hormone-dependent cancers by feed-forward mechanism that activates ESR1 transactivation. Could be an ESR1 coactivator, providing a positive feedback regulatory loop for ESR1 signal transduction. Could be involved in invasive growth by down-regulating CDH1 in endometrial cancer cells. Enhances ESR1-mediated transcription activity. Subject to competitive inhibition by the product ADP-ribose. Kinetic parameters: KM=373 uM for O-acetyl-ADP-ribose; Interacts with ESR1; Interacts in a manner that is estrogen independent but is enhanced by estrogen. Interacts (via macro domain) with AR. P03372:ESR1; NbExp=4; IntAct=EBI-5324932, EBI-78473; Overexpressed by estrogens in breast cancer MCF-7 cells, probably via an activation of nuclear receptors for steroids (ESR1 but not ESR2). Significantly increased by estrogens in ESR1-positive Ishikawa endometrial cancer cells. Up-regulated in 17-beta-estradiol-responsive BG-1 ovarian cancer cells but down-regulated in estrogen-resistant SKOV3 ovarian cancer cells. Induced by androgen. Note=A chromosomal aberration involving MACROD1 is found in acute leukemia. Translocation t(11;21)(q13;q22) that forms a RUNX1-MACROD1 fusion protein. Overexpression may promote MCF-7 cells proliferation. There is an approximate one-third increase of the invasive capacity of MACROD1-overexpressing cells. The expression of CDH1 is repressed by MACROD1. Further analyzes demonstrats that MACROD1 inhibits CDH1 transactivation in a dose dependent manner. Inhibition is abolished by estrogen deprivation, indicating that the down-regulation of CDH1 transcription by MACROD1 requires ESR1 mediation. Binding of ESR1 to the CDH1 promoter is antagonized by MACROD1, suggesting that MACROD1 could interfere with ESR1- mediated transcription. Knockdown of MACROD1 leads to impaired AR function and greatly attenuates the coactivation of AR by other AR coactivators such as UXT and NCOA1. This interference also markedly inhibits the androgen-stimulated proliferation of androgen-sensitive LNCaP prostate cancer cells. MACROD1 knockdown does not significantly affect the growth rate of AR-negative PC-3 prostate cancer cells. Contains 1 Macro domain. Sequence=AAH03188.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH03188.1; Type=Erroneous initiation; protein binding nucleus nucleoplasm cellular response to DNA damage stimulus hydrolase activity hydrolase activity, acting on glycosyl bonds deacetylase activity purine nucleoside metabolic process protein de-ADP-ribosylation uc001nyh.1 uc001nyh.2 uc001nyh.3 uc001nyh.4 uc001nyh.5 
ENST00000255688.8 PLAAT4 ENST00000255688.8 Homo sapiens phospholipase A and acyltransferase 4 (PLAAT4), mRNA. (from RefSeq NM_004585) B2R599 B4DDW2 E7ENZ7 ENST00000255688.1 ENST00000255688.2 ENST00000255688.3 ENST00000255688.4 ENST00000255688.5 ENST00000255688.6 ENST00000255688.7 NM_004585 O95200 Q9UL19 RARRES3 RIG1 TIG3 TIG3_HUMAN uc001nxf.1 uc001nxf.2 uc001nxf.3 uc001nxf.4 uc001nxf.5 uc001nxf.6 Retinoids exert biologic effects such as potent growth inhibitory and cell differentiation activities and are used in the treatment of hyperproliferative dermatological diseases. These effects are mediated by specific nuclear receptor proteins that are members of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. RARRES1, RARRES2, and RARRES3 are genes whose expression is upregulated by the synthetic retinoid tazarotene. RARRES3 is thought act as a tumor suppressor or growth regulator. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF092922.1, BU598144.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000255688.8/ ENSP00000255688.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Exhibits PLA1/2 activity, catalyzing the calcium- independent hydrolysis of acyl groups in various phosphotidylcholines (PC) and phosphatidylethanolamine (PE). For most substrates, PLA1 activity is much higher than PLA2 activity. N- and O-acylation activity is hardly detectable. Kinetic parameters: KM=400 uM for dipalmitoyl-PC; Vmax=530 nmol/min/mg enzyme with dipalmitoyl-PC as substrate; Vmax=240 nmol/min/mg enzyme with dipalmitoyl-PE as substrate; pH dependence: Optimum pH is 8; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UL19-1; Sequence=Displayed; Name=2; IsoId=Q9UL19-2; Sequence=VSP_041496; Note=No experimental confirmation available; Widely expressed. By all-trans-retinoic acid and synthetic retinoids. Belongs to the H-rev107 family. phospholipase A2 activity protein binding cytosol lipid metabolic process phospholipid metabolic process negative regulation of cell proliferation phosphatidylcholine 1-acylhydrolase activity membrane integral component of membrane lipid catabolic process N-acyltransferase activity transferase activity hydrolase activity phosphatidylethanolamine acyl-chain remodeling positive regulation of keratinocyte differentiation phosphatidylserine 1-acylhydrolase activity 1-acyl-2-lysophosphatidylserine acylhydrolase activity N-acylphosphatidylethanolamine metabolic process uc001nxf.1 uc001nxf.2 uc001nxf.3 uc001nxf.4 uc001nxf.5 uc001nxf.6 
ENST00000255695.2 PLAAT2 ENST00000255695.2 Homo sapiens phospholipase A and acyltransferase 2 (PLAAT2), mRNA. (from RefSeq NM_017878) B9A7L8 ENST00000255695.1 HRASLS2 HRSL2_HUMAN NM_017878 Q9NWW9 uc001nxg.1 uc001nxg.2 The protein encoded by this gene has both phospholipase and acyltransferase activities and acts as a tumor suppressor. The encoded protein can hydrolyze dipalmitoylated phosphatidylcholine (PC) to palmitic acid and lyso-PC. In addition, this protein can catalyze the N-acylation of phosphatidylethanolamine and can catalyze the O-acylation of lyso-PC to form PC. [provided by RefSeq, Jul 2016]. ##Evidence-Data-START## Transcript exon combination :: AK000563.1, ERR279873.2047.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000255695.2/ ENSP00000255695.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Exhibits PLA1/2 activity, catalyzing the calcium- independent hydrolysis of acyl groups in various phosphotidylcholines (PC) and phosphatidylethanolamine (PE). For most substrates, PLA1 activity is much higher than PLA2 activity. Catalyzes N-acylation of PE using both sn-1 and sn-2 palmitoyl groups of PC as acyl donor. Also catalyzes O-acylation converting lyso-PC into PC. Phosphatidylcholine + H(2)O = 1- acylglycerophosphocholine + a carboxylate. Phosphatidylcholine + H(2)O = 2- acylglycerophosphocholine + a carboxylate. Phosphatidylcholine + phosphoethanolamine = 1- acylglycerophosphocholine + N-palmitoyl-phosphoethanolamine. Kinetic parameters: KM=300 uM for dipalmitoyl-PC; Vmax=670 nmol/min/mg enzyme with dipalmitoyl-PC as substrate; Vmax=122 nmol/min/mg enzyme with dipalmitoyl-PE as substrate; Vmax=103 nmol/min/mg enzyme using dipalmitoyl-PC as an acyl donor and PE as an acyl acceptor; pH dependence: Optimum pH is 8; Cytoplasm. Note=Exhibits a granular pattern in the cytoplasm with preferential perinuclear localization. Expressed in liver, kidney, small intestine testis and colon (PubMed:19615464). Undetectable in testis, placenta, salivary gland and fetal brain (PubMed:18163183). Belongs to the H-rev107 family. phospholipase A2 activity cytoplasm cytosol lipid metabolic process phosphatidylcholine 1-acylhydrolase activity membrane integral component of membrane lipid catabolic process N-acyltransferase activity transferase activity transferase activity, transferring acyl groups hydrolase activity phosphatidylethanolamine acyl-chain remodeling phosphatidylserine 1-acylhydrolase activity 1-acyl-2-lysophosphatidylserine acylhydrolase activity N-acylphosphatidylethanolamine metabolic process uc001nxg.1 uc001nxg.2 
ENST00000255759.11 CEP20 ENST00000255759.11 Homo sapiens centrosomal protein 20 (CEP20), transcript variant 8, non-coding RNA. (from RefSeq NR_130756) C16orf63 ENST00000255759.1 ENST00000255759.10 ENST00000255759.2 ENST00000255759.3 ENST00000255759.4 ENST00000255759.5 ENST00000255759.6 ENST00000255759.7 ENST00000255759.8 ENST00000255759.9 FOPNL FOPNL_HUMAN FOR20 NR_130756 PHSECRG2 Q96NB1 uc002dec.1 uc002dec.2 uc002dec.3 Involved in the biogenesis of cilia. Homooligomer; probably required for localization to centrosomes. Cell projection, cilium (By similarity). Cytoplasm, cytoskeleton, cilium basal body (By similarity). Cytoplasm, cytoskeleton, centrosome. Cytoplasmic granule. Note=Localizes to pericentriolar satellites, small (70-100 nm) cytoplasmic granules associated with the centrosome. Widely expressed. Detected in brain, heart, kidney, liver, lung, skeletal muscle, placenta and intestine. Belongs to the FGFR1OP family. Contains 1 LisH domain. nucleus cytoplasm centrosome centriole microtubule organizing center cytoskeleton cilium cell projection organization motile cilium centriolar satellite microtubule anchoring ciliary basal body cell projection cilium assembly uc002dec.1 uc002dec.2 uc002dec.3 
ENST00000255764.4 MED10 ENST00000255764.4 Homo sapiens mediator complex subunit 10 (MED10), mRNA. (from RefSeq NM_032286) C6G491 ENST00000255764.1 ENST00000255764.2 ENST00000255764.3 L6 MED10_HUMAN NM_032286 Q9BTT4 TRG17 TRG20 uc003jdo.1 uc003jdo.2 uc003jdo.3 uc003jdo.4 uc003jdo.5 MED10 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008]. ##Evidence-Data-START## Transcript exon combination :: CB149061.1, SRR5189652.30109.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2467146 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000255764.4/ ENSP00000255764.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. Nucleus (Probable). Belongs to the Mediator complex subunit 10 family. ubiquitin ligase complex transcription cofactor activity protein binding nucleus nucleoplasm regulation of transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter protein ubiquitination mediator complex stem cell population maintenance positive regulation of transcription from RNA polymerase II promoter ubiquitin protein ligase activity uc003jdo.1 uc003jdo.2 uc003jdo.3 uc003jdo.4 uc003jdo.5 
ENST00000255784.6 CCDC134 ENST00000255784.6 Homo sapiens coiled-coil domain containing 134 (CCDC134), transcript variant 1, mRNA. (from RefSeq NM_024821) CC134_HUMAN ENST00000255784.1 ENST00000255784.2 ENST00000255784.3 ENST00000255784.4 ENST00000255784.5 NM_024821 Q9H6E4 uc003bbh.1 uc003bbh.2 uc003bbh.3 Secreted (Potential). Belongs to the UPF0388 family. protein binding extracellular region nucleus cytoplasm endoplasmic reticulum membrane uc003bbh.1 uc003bbh.2 uc003bbh.3 
ENST00000255858.12 SEC14L4 ENST00000255858.12 Homo sapiens SEC14 like lipid binding 4 (SEC14L4), transcript variant 1, mRNA. (from RefSeq NM_174977) ENST00000255858.1 ENST00000255858.10 ENST00000255858.11 ENST00000255858.2 ENST00000255858.3 ENST00000255858.4 ENST00000255858.5 ENST00000255858.6 ENST00000255858.7 ENST00000255858.8 ENST00000255858.9 NM_174977 Q9UDX3 S14L4_HUMAN TAP3 uc003aid.1 uc003aid.2 uc003aid.3 uc003aid.4 uc003aid.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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009]. 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. protein binding lipid binding uc003aid.1 uc003aid.2 uc003aid.3 uc003aid.4 uc003aid.5 
ENST00000255882.11 PI4KA ENST00000255882.11 Homo sapiens phosphatidylinositol 4-kinase alpha (PI4KA), transcript variant 1, mRNA. (from RefSeq NM_058004) ENST00000255882.1 ENST00000255882.10 ENST00000255882.2 ENST00000255882.3 ENST00000255882.4 ENST00000255882.5 ENST00000255882.6 ENST00000255882.7 ENST00000255882.8 ENST00000255882.9 NM_058004 P42356 PI4KA_HUMAN PIK4 PIK4CA Q7Z625 Q9UPG2 uc002zsz.1 uc002zsz.2 uc002zsz.3 uc002zsz.4 uc002zsz.5 uc002zsz.6 This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2018]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB210002.1, SRR1803612.268013.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: lack of evidence for use of upstream AUG MANE Ensembl match :: ENST00000255882.11/ ENSP00000255882.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol- 1,4,5,-trisphosphate. ATP + 1-phosphatidyl-1D-myo-inositol = ADP + 1-phosphatidyl-1D-myo-inositol 4-phosphate. This is a type II PtdIns-4-kinase activated by detergents such as triton and inhibited by adenosine. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=PI4K230; IsoId=P42356-1; Sequence=Displayed; Name=2; Synonyms=PI4K97; IsoId=P42356-2; Sequence=VSP_008805; Expressed ubiquitously. Highest levels in placenta and brain. Little or no expression in lung, liver, pancreas, testis or leukocytes. Belongs to the PI3/PI4-kinase family. Type III PI4K subfamily. Contains 1 PI3K/PI4K domain. Contains 1 PIK helical domain. nucleotide binding 1-phosphatidylinositol 4-kinase activity protein binding ATP binding cytoplasm cytosol plasma membrane focal adhesion phosphatidylinositol biosynthetic process signal transduction membrane kinase activity phosphorylation transferase activity viral replication complex Golgi-associated vesicle membrane viral RNA genome replication multi-organism membrane organization cadherin binding viral replication complex formation and maintenance phosphatidylinositol phosphorylation phosphatidylinositol-mediated signaling extracellular exosome uc002zsz.1 uc002zsz.2 uc002zsz.3 uc002zsz.4 uc002zsz.5 uc002zsz.6 
ENST00000255945.4 GIMAP4 ENST00000255945.4 Homo sapiens GTPase, IMAP family member 4 (GIMAP4), transcript variant 1, mRNA. (from RefSeq NM_018326) ENST00000255945.1 ENST00000255945.2 ENST00000255945.3 GIMA4_HUMAN IAN1 IMAP4 MSTP062 NM_018326 Q9NUV9 uc003whl.1 uc003whl.2 uc003whl.3 uc003whl.4 uc003whl.5 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. The encoded protein of this gene may be negatively regulated by T-cell acute lymphocytic leukemia 1 (TAL1). In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR5189655.179469.1, SRR1660805.164383.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000255945.4/ ENSP00000255945.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## May play a role in regulating lymphocyte apoptosis (By similarity). Exhibits intrisinic GTPase activity. Shows a higher affinity for GDP over GTP (about 12-fold higher), and binding shows an absolute requirement for magnesium. Cytoplasm, cytosol (By similarity). Highly expressed in spleen and peripheral blood leukocytes that contain mostly T- and B-lymphocytes. Expressed specifically in resting T- and B-lymphocytes and expression significantly decreases during B- or T-lymphocyte activation. Expressed at lower levels in thymus, ovary, colon and small intestine. Phosphorylated at very low levels in resting splenocytes. Rapidly and transiently phosphorylated in response to splenocyte activation (By similarity). Belongs to the IAN GTP-binding protein family. nucleotide binding GTP binding cytoplasm cytosol uc003whl.1 uc003whl.2 uc003whl.3 uc003whl.4 uc003whl.5 
ENST00000255977.7 MKRN1 ENST00000255977.7 Homo sapiens makorin ring finger protein 1 (MKRN1), transcript variant 1, mRNA. (from RefSeq NM_013446) A4D1T7 B3KXB4 ENST00000255977.1 ENST00000255977.2 ENST00000255977.3 ENST00000255977.4 ENST00000255977.5 ENST00000255977.6 MKRN1_HUMAN NM_013446 Q256Y7 Q59G11 Q6GSF1 Q9H0G0 Q9UEZ7 Q9UHC7 Q9UHW2 RNF61 uc003vvt.1 uc003vvt.2 uc003vvt.3 This gene encodes a protein that belongs to a novel class of zinc finger proteins. The encoded protein functions as a transcriptional co-regulator, and as an E3 ubiquitin ligase that promotes the ubiquitination and proteasomal degradation of target proteins. The protein encoded by this gene is thought to regulate RNA polymerase II-catalyzed transcription. Substrates for this protein's E3 ubiquitin ligase activity include the capsid protein of the West Nile virus and the catalytic subunit of the telomerase ribonucleoprotein. This protein controls cell cycle arrest and apoptosis by regulating p21, a cell cycle regulator, and the tumor suppressor protein p53. Pseudogenes of this gene are present on chromosomes 1, 3, 9, 12 and 20, and on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]. E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. These substrates include FILIP1, p53/TP53, CDKN1A and TERT. Keeps cells alive by suppressing p53/TP53 under normal conditions, but stimulates apoptosis by repressing CDKN1A under stress conditions. Acts as a negative regulator of telomerase. Has negative and positive effects on RNA polymerase II-dependent transcription. Protein modification; protein ubiquitination. Interacts with p53/TP53 and CDKN1A. Interacts with TERT, modulating telomere length homeostasis. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9UHC7-1; Sequence=Displayed; Name=2; IsoId=Q9UHC7-2; Sequence=VSP_040361; Note=No experimental confirmation available; Name=3; IsoId=Q9UHC7-3; Sequence=VSP_040363, VSP_040364; Note=No experimental confirmation available; Name=4; IsoId=Q9UHC7-4; Sequence=VSP_040362; Note=No experimental confirmation available; Ubiquitous. Frequently induced in esophageal squamous cell carcinoma (SCC) tissues. Auto-ubiquitinated; which leads to proteasomal degradation. Contains 4 C3H1-type zinc fingers. Contains 1 RING-type zinc finger. protein polyubiquitination RNA binding ubiquitin-protein transferase activity protein binding cellular_component cytosol protein ubiquitination transferase activity metal ion binding ubiquitin protein ligase activity uc003vvt.1 uc003vvt.2 uc003vvt.3 
ENST00000256001.13 ACTR3B ENST00000256001.13 Homo sapiens actin related protein 3B (ACTR3B), transcript variant 15, non-coding RNA. (from RefSeq NR_146951) A8MTG1 ARP11 ARP3B_HUMAN ARP4 B4DFW4 ENST00000256001.1 ENST00000256001.10 ENST00000256001.11 ENST00000256001.12 ENST00000256001.2 ENST00000256001.3 ENST00000256001.4 ENST00000256001.5 ENST00000256001.6 ENST00000256001.7 ENST00000256001.8 ENST00000256001.9 NR_146951 Q7Z526 Q96BT2 Q9P1U1 uc003wle.1 uc003wle.2 uc003wle.3 uc003wle.4 This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]. 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 :: SRR1803613.323125.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA2142853 [ECO:0000348] ##Evidence-Data-END## Plays a role in the organization of the actin cytoskeleton. May function as ATP-binding component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks. May decrease the metastatic potential of tumors. Interacts with the Arp2/3 complex composed of ARP2, ARP3, ARPC1B, ARPC1B/p41-ARC, ARPC2/p34-ARC, ARPC3/p21-ARC, ARPC4/p20- ARC and ARPC5/p16-ARC. Cytoplasm, cytoskeleton (By similarity). Cell projection (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9P1U1-1; Sequence=Displayed; Name=2; IsoId=Q9P1U1-2; Sequence=VSP_034418; Name=3; IsoId=Q9P1U1-3; Sequence=VSP_041474; Detected in fetal brain. Detected throughout the adult brain, in neurons from gray matter, but not in white matter. Detected in liver, skeletal muscle and pancreas. Detected in lung adenocarcinoma cells with low metastatic potential, but not in lung adenocarcinoma cells with high metastatic potential. Belongs to the actin family. ARP3 subfamily. Sequence=AAP97150.1; Type=Frameshift; Positions=Several; nucleotide binding molecular_function actin binding ATP binding cytoplasm cytoskeleton Arp2/3 protein complex actin filament organization biological_process Arp2/3 complex-mediated actin nucleation cell projection extracellular exosome actin filament binding uc003wle.1 uc003wle.2 uc003wle.3 uc003wle.4 
ENST00000256010.7 NTS ENST00000256010.7 Homo sapiens neurotensin (NTS), mRNA. (from RefSeq NM_006183) ENST00000256010.1 ENST00000256010.2 ENST00000256010.3 ENST00000256010.4 ENST00000256010.5 ENST00000256010.6 NM_006183 Q6FH20 Q6FH20_HUMAN hCG_21128 uc001tag.1 uc001tag.2 uc001tag.3 uc001tag.4 uc001tag.5 This gene encodes a common precursor for two peptides, neuromedin N and neurotensin. Neurotensin is a secreted tridecapeptide, which is widely distributed throughout the central nervous system, and may function as a neurotransmitter or a neuromodulator. It may be involved in dopamine-associated pathophysiological events, in the maintenance of gut structure and function, and in the regulation of fat metabolism. Neurotensin also exhibits antimicrobial activity against bacteria and fungi. Tissue-specific processing may lead to the formation in some tissues of larger forms of neuromedin N and neurotensin. The large forms may represent more stable peptides that are also biologically active. [provided by RefSeq, Oct 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF157682.1, SRR5189655.114135.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000256010.7/ ENSP00000256010.5 Protein has antimicrobial activity :: PMID: 12074933 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## neuropeptide hormone activity extracellular region signal transduction uc001tag.1 uc001tag.2 uc001tag.3 uc001tag.4 uc001tag.5 
ENST00000256015.5 BTG1 ENST00000256015.5 Homo sapiens BTG anti-proliferation factor 1 (BTG1), mRNA. (from RefSeq NM_001731) ENST00000256015.1 ENST00000256015.2 ENST00000256015.3 ENST00000256015.4 NM_001731 Q6IBC8 Q6IBC8_HUMAN hCG_21188 uc001tby.1 uc001tby.2 uc001tby.3 uc001tby.4 This gene is a member of an anti-proliferative gene family that regulates cell growth and differentiation. Expression of this gene is highest in the G0/G1 phases of the cell cycle and downregulated when cells progressed through G1. The encoded protein interacts with several nuclear receptors, and functions as a coactivator of cell differentiation. This locus has been shown to be involved in a t(8;12)(q24;q22) chromosomal translocation in a case of B-cell chronic lymphocytic leukemia. [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 :: DA700239.1, SRR1803614.241137.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000256015.5/ ENSP00000256015.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## protein binding nucleus protein methylation response to oxidative stress spermatogenesis negative regulation of cell proliferation response to peptide hormone uc001tby.1 uc001tby.2 uc001tby.3 uc001tby.4 
ENST00000256079.9 IPO8 ENST00000256079.9 Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA. (from RefSeq NM_006390) B7Z7M3 ENST00000256079.1 ENST00000256079.2 ENST00000256079.3 ENST00000256079.4 ENST00000256079.5 ENST00000256079.6 ENST00000256079.7 ENST00000256079.8 IPO8_HUMAN NM_006390 O15397 RANBP8 uc001rjd.1 uc001rjd.2 uc001rjd.3 uc001rjd.4 uc001rjd.5 The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. This protein binds to the nuclear pore complex and, along with RanGTP and RANBP1, inhibits the GAP stimulation of the Ran GTPase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]. Seems to function in nuclear protein import, either by acting as autonomous nuclear transport receptor or as an adapter- like protein in association with the importin-beta subunit KPNB1. Acting autonomously, is thought to serve itself as receptor for nuclear localization signals (NLS) and to promote translocation of import substrates through the nuclear pore complex (NPC) by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. In vitro mediates the nuclear import of SRP19. Forms a heterodimer with KPNB1. Interacts with SRP19. Binds directly to nuclear pore complexes. Q9UL18:EIF2C1; NbExp=2; IntAct=EBI-358808, EBI-527363; Q9UKV8:EIF2C2; NbExp=3; IntAct=EBI-358808, EBI-528269; Q9H9G7:EIF2C3; NbExp=5; IntAct=EBI-358808, EBI-2267883; Q9HCK5:EIF2C4; NbExp=3; IntAct=EBI-358808, EBI-2269696; Cytoplasm (By similarity). Nucleus (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O15397-1; Sequence=Displayed; Name=2; IsoId=O15397-2; Sequence=VSP_042574; Note=No experimental confirmation available; Belongs to the importin beta family. Contains 1 importin N-terminal domain. protein binding nucleus nuclear envelope nucleoplasm cytoplasm cytosol protein import into nucleus intracellular protein transport signal transduction Ran GTPase binding protein transport regulation of gene silencing by miRNA uc001rjd.1 uc001rjd.2 uc001rjd.3 uc001rjd.4 uc001rjd.5 
ENST00000256084.8 SPINK5 ENST00000256084.8 Homo sapiens serine peptidase inhibitor Kazal type 5 (SPINK5), transcript variant 2, mRNA. (from RefSeq NM_006846) A8MYE8 B7WPB7 D6REN5 ENST00000256084.1 ENST00000256084.2 ENST00000256084.3 ENST00000256084.4 ENST00000256084.5 ENST00000256084.6 ENST00000256084.7 ISK5_HUMAN NM_006846 O75770 Q3LX95 Q3LX96 Q3LX97 Q96PP2 Q96PP3 Q9NQ38 uc003lox.1 uc003lox.2 uc003lox.3 uc003lox.4 This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]. Serine protease inhibitor, probably important for the anti-inflammatory and/or antimicrobial protection of mucous epithelia. Contribute to the integrity and protective barrier function of the skin by regulating the activity of defense- activating and desquamation-involved proteases. Inhibits KLK5, it's major target, in a pH-dependent manner. Inhibits KLK7, KLK14 CASP14, and trypsin. Secreted. Event=Alternative splicing; Named isoforms=3; Name=f-l; IsoId=Q9NQ38-1; Sequence=Displayed; Name=short; IsoId=Q9NQ38-2; Sequence=VSP_040019, VSP_040021; Name=long; IsoId=Q9NQ38-3; Sequence=VSP_040020; Highly expressed in the thymus and stratum corneum. Also found in the oral mucosa, parathyroid gland, Bartholin's glands, tonsils, and vaginal epithelium. Very low levels are detected in lung, kidney, and prostate. Contains at least one active inhibitory domain for trypsin (domain 6). Proteolytically processed by furin in individual domains (D1, D5, D6, D8 through D11, and D9 through D15) exhibiting various inhibitory potentials for multiple proteases. Defects in SPINK5 are the cause of Netherton syndrome (NETH) [MIM:256500]. NETH is an autosomal recessive congenital ichthyosis associated with hair shaft abnormalities and anomalies of the immune system. Typical features are ichthyosis linearis circumflexa, ichthyosiform erythroderma, trichorrhexis invaginata (bamboo hair), atopic dermatitis, and hayfever. High postnatal mortality is due to failure to thrive, infections and hypernatremic dehydration. Contains 15 Kazal-like domains. Name=SPINK5base; Note=SPINK5 mutation db; URL="http://bioinf.uta.fi/SPINK5base/"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SPINK5"; negative regulation of antibacterial peptide production serine-type endopeptidase inhibitor activity extracellular region cytoplasm endoplasmic reticulum endoplasmic reticulum membrane cytosol cell cortex multicellular organism development central nervous system development epidermal cell differentiation negative regulation of peptidase activity negative regulation of angiogenesis cell differentiation regulation of cell adhesion extracellular matrix organization peptidase inhibitor activity epithelial cell differentiation hair cell differentiation intracellular membrane-bounded organelle regulation of T cell differentiation negative regulation of proteolysis perinuclear region of cytoplasm negative regulation of immune response regulation of anagen cornification epidermal lamellar body negative regulation of serine-type endopeptidase activity negative regulation of serine-type peptidase activity uc003lox.1 uc003lox.2 uc003lox.3 uc003lox.4 
ENST00000256103.3 PMP2 ENST00000256103.3 Homo sapiens peripheral myelin protein 2 (PMP2), transcript variant 1, mRNA. (from RefSeq NM_002677) ENST00000256103.1 ENST00000256103.2 MYP2_HUMAN NM_002677 P02689 Q6FHL4 uc003ycb.1 uc003ycb.2 uc003ycb.3 uc003ycb.4 The protein encoded by this gene localizes to myelin sheaths of the peripheral nervous system. The encoded protein can bind both the membrane layers of the sheaths and monomeric lipids, and is thought to provide stability to the sheath. A defect in this gene was shown to be a cause of dominant demyelinating CMT neuropathy. [provided by RefSeq, Jan 2017]. May play a role in lipid transport protein in Schwann cells. May bind cholesterol. Monomer. Cytoplasm (By similarity). Forms a beta-barrel structure that accommodates hydrophobic ligands in its interior. P2 protein and myelin basic protein together constitute a major fraction of peripheral nervous system myelin protein. Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. fatty acid binding protein binding cytoplasm lipid binding cholesterol binding myelin sheath membrane organization extracellular exosome uc003ycb.1 uc003ycb.2 uc003ycb.3 uc003ycb.4 
ENST00000256104.5 FABP4 ENST00000256104.5 Homo sapiens fatty acid binding protein 4 (FABP4), mRNA. (from RefSeq NM_001442) ENST00000256104.1 ENST00000256104.2 ENST00000256104.3 ENST00000256104.4 FABP4_HUMAN NM_001442 P15090 Q6IBA1 uc003ycd.1 uc003ycd.2 uc003ycd.3 uc003ycd.4 FABP4 encodes the fatty acid binding protein found in adipocytes. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189655.184392.1, BC003672.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142670, SAMEA2142680 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000256104.5/ ENSP00000256104.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Lipid transport protein in adipocytes. Binds both long chain fatty acids and retinoic acid. Delivers long-chain fatty acids and retinoic acid to their cognate receptors in the nucleus (By similarity). Homodimer. Interacts with PPARG (By similarity). Monomer. Cytoplasm. Nucleus. Note=Depending on the nature of the ligand, a conformation change exposes a nuclear localization motif and the protein is transported into the nucleus. Subject to constitutive nuclear export (By similarity). Forms a beta-barrel structure that accommodates hydrophobic ligands in its interior. Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. cytokine production long-chain fatty acid transporter activity fatty acid binding nucleus cytoplasm lipid particle cytosol negative regulation of protein kinase activity lipid binding response to bacterium long-chain fatty acid transport triglyceride catabolic process long-chain fatty acid binding cholesterol homeostasis negative regulation of transcription, DNA-templated regulation of inflammatory response positive regulation of inflammatory response white fat cell differentiation brown fat cell differentiation hormone receptor binding extracellular exosome cellular response to lithium ion cellular response to tumor necrosis factor uc003ycd.1 uc003ycd.2 uc003ycd.3 uc003ycd.4 
ENST00000256108.10 IMPA1 ENST00000256108.10 Homo sapiens inositol monophosphatase 1 (IMPA1), transcript variant 1, mRNA. (from RefSeq NM_005536) B2R733 B4DLN3 ENST00000256108.1 ENST00000256108.2 ENST00000256108.3 ENST00000256108.4 ENST00000256108.5 ENST00000256108.6 ENST00000256108.7 ENST00000256108.8 ENST00000256108.9 IMPA IMPA1_HUMAN NM_005536 P29218 Q9UK71 uc003ych.1 uc003ych.2 uc003ych.3 uc003ych.4 This gene encodes an enzyme that dephosphorylates myo-inositol monophosphate to generate free myo-inositol, a precursor of phosphatidylinositol, and is therefore an important modulator of intracellular signal transduction via the production of the second messengers myoinositol 1,4,5-trisphosphate and diacylglycerol. This enzyme can also use myo-inositol-1,3-diphosphate, myo-inositol-1,4-diphosphate, scyllo-inositol-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta-glycerophosphate, and 2'-AMP as substrates. This enzyme shows magnesium-dependent phosphatase activity and is inhibited by therapeutic concentrations of lithium. Inhibition of inositol monophosphate hydroylosis and subsequent depletion of inositol for phosphatidylinositol synthesis may explain the anti-manic and anti-depressive effects of lithium administered to treat bipolar disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A pseudogene of this gene is also present on chromosome 8q21.13. [provided by RefSeq, Dec 2014]. Responsible for the provision of inositol required for synthesis of phosphatidylinositol and polyphosphoinositides and has been implicated as the pharmacological target for lithium action in brain. Can use myo-inositol monophosphates, myo-inositol 1,3-diphosphate, myo-inositol 1,4-diphosphate, scyllo-inositol- phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1- phosphate, beta-glycerophosphate, and 2'-AMP as substrates. Myo-inositol phosphate + H(2)O = myo-inositol + phosphate. Magnesium. Inhibited by Li(+). pH dependence: Optimum pH is 7.0-7.5; Polyol metabolism; myo-inositol biosynthesis; myo- inositol from D-glucose 6-phosphate: step 2/2. Homodimer. Self; NbExp=2; IntAct=EBI-752410, EBI-752410; Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P29218-1; Sequence=Displayed; Name=2; IsoId=P29218-2; Sequence=VSP_042521; Note=No experimental confirmation available; Belongs to the inositol monophosphatase family. magnesium ion binding protein binding cytoplasm cytosol inositol biosynthetic process phosphatidylinositol biosynthetic process phosphate-containing compound metabolic process signal transduction inositol monophosphate 1-phosphatase activity hydrolase activity manganese ion binding lithium ion binding identical protein binding protein homodimerization activity inositol phosphate metabolic process phosphatidylinositol phosphorylation inositol phosphate dephosphorylation metal ion binding inositol monophosphate 3-phosphatase activity inositol monophosphate 4-phosphatase activity inositol monophosphate phosphatase activity uc003ych.1 uc003ych.2 uc003ych.3 uc003ych.4 
ENST00000256151.8 CCDC59 ENST00000256151.8 Homo sapiens coiled-coil domain containing 59 (CCDC59), transcript variant 1, mRNA. (from RefSeq NM_014167) BR22 ENST00000256151.1 ENST00000256151.2 ENST00000256151.3 ENST00000256151.4 ENST00000256151.5 ENST00000256151.6 ENST00000256151.7 HSPC128 NM_014167 Q9H2V5 Q9NW62 Q9P031 TAP26 TAP26_HUMAN uc001szp.1 uc001szp.2 uc001szp.3 uc001szp.4 uc001szp.5 uc001szp.6 Component of the transcription complexes of the pulmonary surfactant-associated protein-B (SFTPB) and -C (SFTPC). Enhances homeobox protein Nkx-2.1-activated SFTPB and SFTPC promoter activities. Interacts with NKX2-1. P43699:NKX2-1; NbExp=4; IntAct=EBI-1047110, EBI-1391923; Nucleus (Probable). Ubiquitously expressed. In lung, expression is restricted to the alveolar epithelial cells. Belongs to the TAP26 family. RNA binding protein binding nucleus nucleoplasm cellular protein metabolic process uc001szp.1 uc001szp.2 uc001szp.3 uc001szp.4 uc001szp.5 uc001szp.6 
ENST00000256178.8 LYVE1 ENST00000256178.8 Homo sapiens lymphatic vessel endothelial hyaluronan receptor 1 (LYVE1), mRNA. (from RefSeq NM_006691) CRSBP1 ENST00000256178.1 ENST00000256178.2 ENST00000256178.3 ENST00000256178.4 ENST00000256178.5 ENST00000256178.6 ENST00000256178.7 HAR LYVE1_HUMAN NM_006691 Q8TC18 Q9UNF4 Q9Y5Y7 UNQ230/PRO263 XLKD1 uc001miv.1 uc001miv.2 uc001miv.3 uc001miv.4 This gene encodes a type I integral membrane glycoprotein. The encoded protein acts as a receptor and binds to both soluble and immobilized hyaluronan. This protein may function in lymphatic hyaluronan transport and have a role in tumor metastasis. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660803.234417.1, SRR1803615.5397.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000256178.8/ ENSP00000256178.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Ligand-specific transporter trafficking between intracellular organelles (TGN) and the plasma membrane. Plays a role in autocrine regulation of cell growth mediated by growth regulators containing cell surface retention sequence binding (CRS). May act as an hyaluronan (HA) transporter, either mediating its uptake for catabolism within lymphatic endothelial cells themselves, or its transport into the lumen of afferent lymphatic vessels for subsequent re-uptake and degradation in lymph nodes. Homodimer; disulfide-linked. Interacts with PDGFB and IGFBP3. Forms a transient ternary complex with PDGFB and PDGFRB in TGN (By similarity). Membrane; Single-pass type I membrane protein. Note=Localized to the plasma membrane and in vesicles near extranuclear membranes which may represent trans-Golgi network (TGN) and endosomes/prelysosomeal compartments. Undergoes ligand-dependent internalization and recycling at the cell surface. Mainly expressed in endothelial cells lining lymphatic vessels. O-glycosylated (By similarity). Contains 1 Link domain. transmembrane signaling receptor activity protein binding hyaluronic acid binding plasma membrane integral component of plasma membrane glycosaminoglycan catabolic process cell adhesion cell-matrix adhesion response to wounding anatomical structure morphogenesis membrane integral component of membrane hyaluronan catabolic process signaling receptor activity extracellular exosome cell periphery uc001miv.1 uc001miv.2 uc001miv.3 uc001miv.4 
ENST00000256190.13 SBF2 ENST00000256190.13 Homo sapiens SET binding factor 2 (SBF2), mRNA. (from RefSeq NM_030962) CMT4B2 ENST00000256190.1 ENST00000256190.10 ENST00000256190.11 ENST00000256190.12 ENST00000256190.2 ENST00000256190.3 ENST00000256190.4 ENST00000256190.5 ENST00000256190.6 ENST00000256190.7 ENST00000256190.8 ENST00000256190.9 KIAA1766 MTMR13 MTMRD_HUMAN NM_030962 Q3MJF0 Q68DQ3 Q6P459 Q6PJD1 Q7Z325 Q7Z621 Q86VE2 Q86WG5 Q96FE2 Q9C097 uc001mib.1 uc001mib.2 uc001mib.3 This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY234241.1, SRR1803611.62434.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Guanine nucleotide exchange factor (GEF) which may activate RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. Interacts with MTMR2. Cytoplasm. Membrane; Peripheral membrane protein. Note=Associated with membranes. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q86WG5-1; Sequence=Displayed; Name=3; IsoId=Q86WG5-3; Sequence=VSP_017157, VSP_017158; Note=No experimental confirmation available; Widely expressed. Expressed in spinal cord. Defects in SBF2 are the cause of Charcot-Marie-Tooth disease type 4B2 (CMT4B2) [MIM:604563]. CMT4B2 is a recessive form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy and primary peripheral axonal neuropathy. Demyelinating CMT neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention, autosomal recessive forms of demyelinating Charcot- Marie-Tooth disease are designated CMT4. CMT4B2 is characterized by abnormal folding of myelin sheaths. Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Contains 1 dDENN domain. Contains 1 DENN domain. Contains 1 GRAM domain. Contains 1 myotubularin phosphatase domain. Contains 1 PH domain. Contains 1 uDENN domain. In contrast to other members of the family, it lacks a canonical protein-tyrosine phosphatase domain and lacks the conserved Cys residue in position 1410 which is replaced by a Leu residue. It therefore probably does not have phosphatase activity. Name=Inherited peripheral neuropathies mutation db; URL="http://www.molgen.ua.ac.be/CMTMutations/"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SBF2"; guanyl-nucleotide exchange factor activity protein binding cytoplasm endosome vacuolar membrane cytosol autophagy endosome membrane membrane Rab guanyl-nucleotide exchange factor activity phosphatase regulator activity phosphatase binding axon phosphatidylinositol binding myelination cell projection regulation of GTPase activity perinuclear region of cytoplasm uc001mib.1 uc001mib.2 uc001mib.3 
ENST00000256196.9 RRAS2 ENST00000256196.9 Homo sapiens RAS related 2 (RRAS2), transcript variant 1, mRNA. (from RefSeq NM_012250) B2R9Z3 B7Z6C4 B7Z7H6 ENST00000256196.1 ENST00000256196.2 ENST00000256196.3 ENST00000256196.4 ENST00000256196.5 ENST00000256196.6 ENST00000256196.7 ENST00000256196.8 NM_012250 P17082 P62070 RRAS2_HUMAN TC21 uc001mlf.1 uc001mlf.2 uc001mlf.3 uc001mlf.4 uc001mlf.5 uc001mlf.6 This gene encodes a member of the R-Ras subfamily of Ras-like small GTPases. The encoded protein associates with the plasma membrane and may function as a signal transducer. This protein may play an important role in activating signal transduction pathways that control cell proliferation. Mutations in this gene are associated with the growth of certain tumors. Pseudogenes of this gene are found on chromosomes 1 and 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]. It is a plasma membrane-associated GTP-binding protein with GTPase activity. Might transduce growth inhibitory signals across the cell membrane, exerting its effect through an effector shared with the Ras proteins but in an antagonistic fashion. P10398:ARAF; NbExp=3; IntAct=EBI-491037, EBI-365961; Cell membrane; Lipid-anchor; Cytoplasmic side (By similarity). Note=Inner surface of plasma membrane possibly with attachment requiring acylation of the C-terminal cysteine (By similarity with RAS). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P62070-1; Sequence=Displayed; Name=2; IsoId=P62070-2; Sequence=VSP_043066; Note=No experimental confirmation available; Name=3; IsoId=P62070-3; Sequence=VSP_044485; Note=No experimental confirmation available; Ubiquitously present in all tissues examined, with the highest levels in heart, placenta, and skeletal muscle. Moderate levels in lung and liver; low levels in brain, kidney, and pancreas. May be post-translationally modified by both palmitoylation and polyisoprenylation. Defects in RRAS2 are a cause of susceptibility to ovarian cancer (OC) [MIM:167000]. The term ovarian cancer defines common malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. Belongs to the small GTPase superfamily. Ras family. Sequence=AAA36545.1; Type=Frameshift; Positions=4, 8, 12; Sequence=AAM12638.1; Type=Frameshift; Positions=4, 8, 12; nucleotide binding osteoblast differentiation GTPase activity protein binding GTP binding endoplasmic reticulum plasma membrane focal adhesion signal transduction Ras protein signal transduction cellular process membrane GDP binding positive regulation of cell migration extracellular exosome regulation of neuron death uc001mlf.1 uc001mlf.2 uc001mlf.3 uc001mlf.4 uc001mlf.5 uc001mlf.6 
ENST00000256255.11 SARAF ENST00000256255.11 Homo sapiens store-operated calcium entry associated regulatory factor (SARAF), transcript variant 1, mRNA. (from RefSeq NM_016127) B3KQQ4 B7Z9J1 D3DSU7 ENST00000256255.1 ENST00000256255.10 ENST00000256255.2 ENST00000256255.3 ENST00000256255.4 ENST00000256255.5 ENST00000256255.6 ENST00000256255.7 ENST00000256255.8 ENST00000256255.9 H9MHJ8 H9MHJ9 HSPC035 NM_016127 NPD003 PSEC0019 Q53HE8 Q96BY9 Q9UNZ3 Q9Y683 SARAF_HUMAN TMEM66 UNQ1967/PRO4499 XTP3 uc003xhs.1 uc003xhs.2 uc003xhs.3 uc003xhs.4 uc003xhs.5 uc003xhs.6 Negative regulator of store-operated Ca(2+) entry (SOCE) involved in protecting cells from Ca(2+) overfilling. In response to cytosolic Ca(2+) elevation after endoplasmic reticulum Ca(2+) refilling, promotes a slow inactivation of STIM (STIM1 or STIM2)- dependent SOCE activity: possibly act by facilitating the deoligomerization of STIM to efficiently turn off ORAI when the endoplasmic reticulum lumen is filled with the appropriate Ca(2+) levels, and thus preventing the overload of the cell with excessive Ca(2+) ions. Interacts with STIM1. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Note=Translocates to the endoplasmic reticulum-plasma membrane (ER-PM) region in a STIM1-dependent manner following cytosolic Ca(2+) elevation. Isoform 2: Endoplasmic reticulum membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96BY9-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q96BY9-2; Sequence=VSP_043773; Highly expressed in macrophages. The cytoplasmic C-terminal region mediates interaction with STIM1, while the N-terminal lumenal region mediates regulation of SOCE activity (PubMed:22464749). Belongs to the SARAF family. Sequence=AAD44487.1; Type=Frameshift; Positions=28; protein binding endoplasmic reticulum endoplasmic reticulum membrane ion transport calcium ion transport membrane integral component of membrane integral component of endoplasmic reticulum membrane regulation of store-operated calcium entry uc003xhs.1 uc003xhs.2 uc003xhs.3 uc003xhs.4 uc003xhs.5 uc003xhs.6 
ENST00000256257.2 RNF122 ENST00000256257.2 Homo sapiens ring finger protein 122 (RNF122), mRNA. (from RefSeq NM_024787) ENST00000256257.1 NM_024787 Q52LK3 Q9H9V4 RN122_HUMAN uc003xjo.1 uc003xjo.2 uc003xjo.3 uc003xjo.4 The encoded protein contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. The encoded protein is localized to the endoplasmic reticulum and golgi apparatus, and may be associated with cell viability. [provided by RefSeq, Jul 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. ##Evidence-Data-START## Transcript exon combination :: AK022588.1, BC093884.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03267760 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000256257.2/ ENSP00000256257.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## May induce necrosis and apoptosis. May play a role in cell viability. Golgi apparatus. Endoplasmic reticulum. Membrane; Single-pass membrane protein (Potential). Widely expressed in several tissues and cell lines. Contains 1 RING-type zinc finger. protein binding cytoplasm endoplasmic reticulum Golgi apparatus negative regulation of mitochondrial membrane potential endomembrane system membrane integral component of membrane positive regulation of apoptotic process proteasome-mediated ubiquitin-dependent protein catabolic process metal ion binding protein autoubiquitination ubiquitin protein ligase activity uc003xjo.1 uc003xjo.2 uc003xjo.3 uc003xjo.4 
ENST00000256261.9 DUSP26 ENST00000256261.9 Homo sapiens dual specificity phosphatase 26 (DUSP26), transcript variant 1, mRNA. (from RefSeq NM_024025) D3DSV8 DUS26_HUMAN DUSP24 ENST00000256261.1 ENST00000256261.2 ENST00000256261.3 ENST00000256261.4 ENST00000256261.5 ENST00000256261.6 ENST00000256261.7 ENST00000256261.8 LDP4 MKP8 NATA1 NM_024025 Q9BTW0 Q9BV47 SKRP3 uc003xjp.1 uc003xjp.2 uc003xjp.3 uc003xjp.4 uc003xjp.5 This gene encodes a member of the tyrosine phosphatase family of proteins and exhibits dual specificity by dephosphorylating tyrosine as well as serine and threonine residues. This gene has been described as both a tumor suppressor and an oncogene depending on the cellular context. This protein may regulate neuronal proliferation and has been implicated in the progression of glioblastoma through its ability to dephosphorylate the p53 tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]. Inactivates MAPK1 and MAPK3 which leads to dephosphorylation of heat shock factor protein 4 and a reduction in its DNA-binding activity. Inhibits MAP kinase p38 by dephosphorylating it and inhibits p38-mediated apoptosis in anaplastic thyroid cancer cells. Can also induce activation of MAP kinase p38 and c-Jun N-terminal kinase (JNK). Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate. A phosphoprotein + H(2)O = a protein + phosphate. Interacts with HSF4. P04637:TP53; NbExp=9; IntAct=EBI-2924519, EBI-366083; Cytoplasm. Nucleus. Golgi apparatus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BV47-1; Sequence=Displayed; Name=2; IsoId=Q9BV47-2; Sequence=VSP_026406; Brain. In the brain it is expressed ubiquitously except in the hippocampus. Expressed in embryonal cancers (retinoblastoma, neuroepithilioma and neuroblastoma) and in anaplatic thyroid cancer. Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. Contains 1 tyrosine-protein phosphatase domain. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II activating transcription factor binding p53 binding phosphoserine phosphatase activity phosphoprotein phosphatase activity protein tyrosine phosphatase activity protein binding nucleus cytoplasm Golgi apparatus protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity dephosphorylation hydrolase activity phosphatase activity peptidyl-tyrosine dephosphorylation negative regulation of protein kinase activity by regulation of protein phosphorylation positive regulation of cell adhesion extracellular exosome negative regulation of ERK1 and ERK2 cascade positive regulation of peptidyl-serine dephosphorylation uc003xjp.1 uc003xjp.2 uc003xjp.3 uc003xjp.4 uc003xjp.5 
ENST00000256319.7 ERG28 ENST00000256319.7 Homo sapiens ergosterol biosynthesis 28 homolog (ERG28), mRNA. (from RefSeq NM_007176) AD-011 C14orf1 ENST00000256319.1 ENST00000256319.2 ENST00000256319.3 ENST00000256319.4 ENST00000256319.5 ENST00000256319.6 ERG28_HUMAN HSPC288 NM_007176 Q9P093 Q9UKR5 Q9UPI2 uc001xrt.1 uc001xrt.2 uc001xrt.3 uc001xrt.4 uc001xrt.5 x0006 Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential). Ubiquitous; strongly expressed in testis and some cancer cell lines. Belongs to the ERG28 family. Sequence=AAD51373.1; Type=Erroneous gene model prediction; Sequence=AAF28966.1; Type=Erroneous initiation; molecular_function endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process steroid biosynthetic process ergosterol biosynthetic process biological_process steroid metabolic process membrane integral component of membrane sterol biosynthetic process transport vesicle protein binding, bridging uc001xrt.1 uc001xrt.2 uc001xrt.3 uc001xrt.4 uc001xrt.5 
ENST00000256324.15 DGLUCY ENST00000256324.15 Homo sapiens D-glutamate cyclase (DGLUCY), transcript variant 12, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001358312) B3KUI7 C14orf159 CN159_HUMAN ENST00000256324.1 ENST00000256324.10 ENST00000256324.11 ENST00000256324.12 ENST00000256324.13 ENST00000256324.14 ENST00000256324.2 ENST00000256324.3 ENST00000256324.4 ENST00000256324.5 ENST00000256324.6 ENST00000256324.7 ENST00000256324.8 ENST00000256324.9 NM_001358312 Q7Z3D6 Q86SW3 Q86SX8 Q86SX9 Q86T08 Q86TV5 Q96GW5 Q9H7G0 Q9H8Y9 Q9H9W6 UNQ2439/PRO5000 uc001xyw.1 uc001xyw.2 uc001xyw.3 uc001xyw.4 uc001xyw.5 Mitochondrion (Potential). Event=Alternative splicing; Named isoforms=6; Name=1; IsoId=Q7Z3D6-1; Sequence=Displayed; Name=2; IsoId=Q7Z3D6-2; Sequence=VSP_010506; Name=3; IsoId=Q7Z3D6-3; Sequence=VSP_010506, VSP_010509; Note=No experimental confirmation available; Name=4; IsoId=Q7Z3D6-4; Sequence=VSP_010506, VSP_010510, VSP_010511; 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=5; IsoId=Q7Z3D6-5; Sequence=VSP_010508, VSP_010509; Note=No experimental confirmation available; Name=6; IsoId=Q7Z3D6-6; Sequence=VSP_010505, VSP_010507; Note=No experimental confirmation available; Belongs to the UPF0317 family. Sequence=BAB14932.1; Type=Frameshift; Positions=436, 582; molecular_function protein binding cellular_component mitochondrion mitochondrial matrix glutamate metabolic process biological_process lyase activity D-glutamate cyclase activity uc001xyw.1 uc001xyw.2 uc001xyw.3 uc001xyw.4 uc001xyw.5 
ENST00000256343.8 CATSPERB ENST00000256343.8 Homo sapiens cation channel sperm associated auxiliary subunit beta (CATSPERB), mRNA. (from RefSeq NM_024764) A0AV51 C14orf161 CTSRB_HUMAN ENST00000256343.1 ENST00000256343.2 ENST00000256343.3 ENST00000256343.4 ENST00000256343.5 ENST00000256343.6 ENST00000256343.7 NM_024764 Q9H7T0 uc001xzs.1 uc001xzs.2 uc001xzs.3 Probably involved in sperm cell hyperactivation via its association with CATSPER1. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization (By similarity). Component of the CatSper complex (By similarity). Membrane; Multi-pass membrane protein (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H7T0-1; Sequence=Displayed; Name=2; IsoId=Q9H7T0-2; Sequence=VSP_027008; Note=No experimental confirmation available; plasma membrane cilium multicellular organism development spermatogenesis membrane integral component of membrane cell differentiation response to progesterone sperm-egg recognition CatSper complex uc001xzs.1 uc001xzs.2 uc001xzs.3 
ENST00000256362.5 VRTN ENST00000256362.5 Homo sapiens vertebrae development associated (VRTN), mRNA. (from RefSeq NM_018228) C14orf115 ENST00000256362.1 ENST00000256362.2 ENST00000256362.3 ENST00000256362.4 NM_018228 Q9H8Y1 Q9NVC7 VRTN_HUMAN uc001xpw.1 uc001xpw.2 uc001xpw.3 uc001xpw.4 uc001xpw.5 uc001xpw.6 Belongs to the vertnin family. negative regulation of transcription from RNA polymerase II promoter transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transposase activity transposition, DNA-mediated sequence-specific DNA binding uc001xpw.1 uc001xpw.2 uc001xpw.3 uc001xpw.4 uc001xpw.5 uc001xpw.6 
ENST00000256366.6 SYNJ2BP ENST00000256366.6 Homo sapiens synaptojanin 2 binding protein (SYNJ2BP), mRNA. (from RefSeq NM_018373) ENST00000256366.1 ENST00000256366.2 ENST00000256366.3 ENST00000256366.4 ENST00000256366.5 NM_018373 OMP25 P57105 Q49SH3 Q96IA4 SYJ2B_HUMAN uc001xmc.1 uc001xmc.2 uc001xmc.3 uc001xmc.4 uc001xmc.5 uc001xmc.6 Binds (via the PDZ domain) to isoform 2A of SYNJ2 (via the unique motif in the C-terminus) (By similarity). Interacts with MAPK12 (By similarity). Mitochondrion outer membrane (By similarity). Contains 1 PDZ (DHR) domain. negative regulation of endothelial cell proliferation protein binding mitochondrion mitochondrial outer membrane protein targeting Rho protein signal transduction chemical synaptic transmission protein C-terminus binding regulation of Notch signaling pathway negative regulation of endothelial cell migration membrane integral component of membrane basolateral plasma membrane negative regulation of angiogenesis cell junction regulation of endocytosis integral component of mitochondrial outer membrane neuromuscular junction ionotropic glutamate receptor binding neuron projection receptor clustering establishment or maintenance of epithelial cell apical/basal polarity intracellular distribution of mitochondria negative regulation of ERK1 and ERK2 cascade receptor localization to synapse cell-cell adhesion postsynaptic density membrane negative regulation of sprouting angiogenesis ionotropic glutamate receptor complex uc001xmc.1 uc001xmc.2 uc001xmc.3 uc001xmc.4 uc001xmc.5 uc001xmc.6 
ENST00000256367.3 TTC9 ENST00000256367.3 Homo sapiens tetratricopeptide repeat domain 9 (TTC9), mRNA. (from RefSeq NM_015351) ENST00000256367.1 ENST00000256367.2 KIAA0227 NM_015351 Q86WT2 Q92623 TTC9A TTC9A_HUMAN uc001xmi.1 uc001xmi.2 uc001xmi.3 This gene encodes a protein that contains three tetratricopeptide repeats. The gene has been shown to be hormonally regulated in breast cancer cells and may play a role in cancer cell invasion and metastasis. [provided by RefSeq, Mar 2009]. ##Evidence-Data-START## Transcript exon combination :: D86980.1, BC047950.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000256367.3/ ENSP00000256367.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Belongs to the TTC9 family. Contains 3 TPR repeats. Sequence=AAH47950.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAA13216.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; bone development uc001xmi.1 uc001xmi.2 uc001xmi.3 
ENST00000256383.11 EIF2S1 ENST00000256383.11 Homo sapiens eukaryotic translation initiation factor 2 subunit alpha (EIF2S1), mRNA. (from RefSeq NM_004094) ENST00000256383.1 ENST00000256383.10 ENST00000256383.2 ENST00000256383.3 ENST00000256383.4 ENST00000256383.5 ENST00000256383.6 ENST00000256383.7 ENST00000256383.8 ENST00000256383.9 NM_004094 Q53XC0 Q53XC0_HUMAN hCG_21909 uc001xjg.1 uc001xjg.2 uc001xjg.3 uc001xjg.4 uc001xjg.5 uc001xjg.6 uc001xjg.7 The translation initiation factor EIF2 catalyzes the first regulated step of protein synthesis initiation, promoting the binding of the initiator tRNA to 40S ribosomal subunits. Binding occurs as a ternary complex of methionyl-tRNA, EIF2, and GTP. EIF2 is composed of 3 nonidentical subunits, the 36-kD EIF2-alpha subunit (EIF2S1), the 38-kD EIF2-beta subunit (EIF2S2; MIM 603908), and the 52-kD EIF2-gamma subunit (EIF2S3; MIM 300161). The rate of formation of the ternary complex is modulated by the phosphorylation state of EIF2-alpha (Ernst et al., 1987 [PubMed 2948954]).[supplied by OMIM, 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 :: SRR1660803.68973.1, SRR1660807.12228.1 [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 ##RefSeq-Attributes-END## nucleic acid binding RNA binding translation initiation factor activity nucleus cytoplasm eukaryotic translation initiation factor 2 complex translation translational initiation aging cytoplasmic stress granule negative regulation of translational initiation in response to stress stress granule assembly cellular response to amino acid starvation cellular response to oxidative stress cellular response to heat cellular response to UV response to endoplasmic reticulum stress regulation of translational initiation in response to stress translation initiation ternary complex synapse protein autophosphorylation glial limiting end-foot positive regulation of neuron death negative regulation of guanyl-nucleotide exchange factor activity response to manganese-induced endoplasmic reticulum stress positive regulation of type B pancreatic cell apoptotic process uc001xjg.1 uc001xjg.2 uc001xjg.3 uc001xjg.4 uc001xjg.5 uc001xjg.6 uc001xjg.7 
ENST00000256389.5 ADAM20 ENST00000256389.5 Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA. (from RefSeq NM_003814) ADA20_HUMAN ENST00000256389.1 ENST00000256389.2 ENST00000256389.3 ENST00000256389.4 NM_003814 O43506 Q6GTZ1 Q9UKJ9 uc001xme.1 uc001xme.2 uc001xme.3 uc001xme.4 uc001xme.5 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) 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 expression of this gene is testis-specific. [provided by RefSeq, Jul 2008]. CCDS Note: The coding region has been updated to shorten the N-terminus to one that is more supported by available conservation data and the prediction of a signal peptide. ##Evidence-Data-START## Transcript exon combination :: BC025378.1, DB049896.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: downstream AUG is associated with N-terminal localization signal MANE Ensembl match :: ENST00000256389.5/ ENSP00000256389.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## May be involved in sperm maturation and/or fertilization. Binds 1 zinc ion per subunit (Potential). Membrane; Single-pass type I membrane protein. Testis specific. A tripeptide motif (VGE) within disintegrin-like domain could be involved in the binding to egg integrin receptor and thus could mediate sperm/egg binding. The cysteine-rich domain encodes putative cell-fusion peptides, which could be involved in sperm-egg fusion. 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. Has no obvious cleavage site for furin endopeptidase, suggesting that the proteolytic processing is regulated. May be the functional equivalent of ADAM 1/fertilin alpha which is a pseudogene in human. Contains 1 disintegrin domain. Contains 1 EGF-like domain. Contains 1 peptidase M12B domain. Sequence=AAH25378.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH25378.2; Type=Erroneous initiation; Sequence=EAW81037.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; metalloendopeptidase activity plasma membrane proteolysis single fertilization binding of sperm to zona pellucida peptidase activity metallopeptidase activity membrane integral component of membrane hydrolase activity metal ion binding uc001xme.1 uc001xme.2 uc001xme.3 uc001xme.4 uc001xme.5 
ENST00000256404.8 PEBP4 ENST00000256404.8 Homo sapiens phosphatidylethanolamine binding protein 4 (PEBP4), transcript variant 1, mRNA. (from RefSeq NM_144962) CORK1 ENST00000256404.1 ENST00000256404.2 ENST00000256404.3 ENST00000256404.4 ENST00000256404.5 ENST00000256404.6 ENST00000256404.7 NM_144962 PEBP4_HUMAN Q5EVA1 Q8WW74 Q96S96 UNQ1933/PRO4408 uc003xcn.1 uc003xcn.2 uc003xcn.3 The phosphatidylethanolamine (PE)-binding proteins, including PEBP4, are an evolutionarily conserved family of proteins with pivotal biologic functions, such as lipid binding and inhibition of serine proteases (Wang et al., 2004 [PubMed 15302887]).[supplied by OMIM, Dec 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189655.220788.1, SRR5189655.192308.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145313, SAMEA2151119 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000256404.8/ ENSP00000256404.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Seems to promote cellular resistance to TNF-induced apoptosis by inhibiting activation of the Raf-1/MEK/ERK pathway, JNK and phosphatidylethanolamine externalization. Lysosome. Ubiquitously expressed. Highly expressed in tumor cells. Belongs to the phosphatidylethanolamine-binding protein family. Sequence=AAH20779.1; Type=Frameshift; Positions=219; Sequence=AAQ89467.1; Type=Frameshift; Positions=219; protein binding lysosome extracellular exosome uc003xcn.1 uc003xcn.2 uc003xcn.3 
ENST00000256412.8 ADAMDEC1 ENST00000256412.8 Homo sapiens ADAM like decysin 1 (ADAMDEC1), transcript variant 4, non-coding RNA. (from RefSeq NR_156422) ADEC1_HUMAN B7ZAK5 ENST00000256412.1 ENST00000256412.2 ENST00000256412.3 ENST00000256412.4 ENST00000256412.5 ENST00000256412.6 ENST00000256412.7 NR_156422 O15204 uc003xdz.1 uc003xdz.2 This encoded protein is thought to be a secreted protein belonging to the disintegrin metalloproteinase family. Its expression is upregulated during dendritic cells maturation. This protein may play an important role in dendritic cell function and their interactions with germinal center T cells. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: ERR279846.10847.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## May play an important role in the control of the immune response and during pregnancy (By similarity). Binds 1 zinc ion per subunit (By similarity). Secreted (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O15204-1; Sequence=Displayed; Name=2; IsoId=O15204-2; Sequence=VSP_043124; Note=No experimental confirmation available; Expressed highly in the small intestine and appendix, moderately in lymph node, mucosal lining of the colon, thymus, spleen and very weakly in the bone marrow. Predominantly expressed in dendritic cells (DC) of the germinal center. Weakly expressed in monocyte and highly expressed in macrophage. Absent in immature DC. Induced during DC maturation and up-regulated in response to T-cell signals. In macrophage up-regulated by bacterial lipopolysaccharides (LPS). Up-regulated by 1-alpha,25- dihydroxyvitamin D3 during differentiation of primary monocyte into macrophage. Contains 1 disintegrin domain. Contains 1 peptidase M12B domain. metalloendopeptidase activity cellular_component extracellular region proteolysis immune response negative regulation of cell adhesion peptidase activity metallopeptidase activity zinc ion binding hydrolase activity metal ion binding uc003xdz.1 uc003xdz.2 
ENST00000256413.8 CTIF ENST00000256413.8 Homo sapiens cap binding complex dependent translation initiation factor (CTIF), transcript variant 1, mRNA. (from RefSeq NM_014772) B3KTR8 CTIF_HUMAN ENST00000256413.1 ENST00000256413.2 ENST00000256413.3 ENST00000256413.4 ENST00000256413.5 ENST00000256413.6 ENST00000256413.7 KIAA0427 NM_014772 O43310 Q8IVD5 uc002ldc.1 uc002ldc.2 uc002ldc.3 uc002ldc.4 uc002ldc.5 CTIF is a component of the CBP80 (NCBP1; MIM 600469)/CBP20 (NCBP2; MIM 605133) translation initiation complex that binds cotranscriptionally to the cap end of nascent mRNA. The CBP80/CBP20 complex is involved in a simultaneous editing and translation step that recognizes premature termination codons (PTCs) in mRNAs and directs PTC-containing mRNAs toward nonsense-mediated decay (NMD). On mRNAs without PTCs, the CBP80/CBP20 complex is replaced with cytoplasmic mRNA cap-binding proteins, including EIF4G (MIM 600495), and steady-state translation of the mRNAs resumes in the cytoplasm (Kim et al., 2009 [PubMed 19648179]).[supplied by OMIM, Dec 2009]. Specifically required for the pioneer round of mRNA translation mediated by the cap-binding complex (CBC), that takes place during or right after mRNA export via the nuclear pore complex (NPC). Acts via its interaction with the NCBP1/CBP80 component of the CBC complex and recruits the 40S small subunit of the ribosome via eIF3. In contrast, it is not involved in steady state translation, that takes place when the CBC complex is replaced by cytoplasmic cap-binding protein eIF4E. Also required for nonsense-mediated mRNA decay (NMD), the pioneer round of mRNA translation mediated by the cap-binding complex playing a central role in nonsense-mediated mRNA decay (NMD). Interacts with NCBP1/CBP80; the interaction is direct. Associates with the eukaryotic translation initiation factor 3 (eIF-3) complex. Cytoplasm, perinuclear region. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O43310-1; Sequence=Displayed; Name=2; IsoId=O43310-2; Sequence=VSP_013774; Note=No experimental confirmation available; Widely expressed. Belongs to the CTIF family. Contains 1 MIF4G domain. Sequence=BAA24857.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAG53180.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay RNA binding protein binding cytoplasm cytosol regulation of translation regulation of translational initiation translation activator activity positive regulation of translation perinuclear region of cytoplasm uc002ldc.1 uc002ldc.2 uc002ldc.3 uc002ldc.4 uc002ldc.5 
ENST00000256425.6 MRO ENST00000256425.6 Homo sapiens maestro (MRO), transcript variant 6, mRNA. (from RefSeq NM_001369510) B29 C18orf3 ENST00000256425.1 ENST00000256425.2 ENST00000256425.3 ENST00000256425.4 ENST00000256425.5 MSTRO_HUMAN NM_001369510 Q8N6K5 Q9BYG7 uc002lex.1 uc002lex.2 uc002lex.3 uc002lex.4 This gene is specifically transcribed in males before and after differentiation of testis, and the encoded protein may play an important role in a mammalian sex determination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.339829.1, SRR5189667.341793.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## Nucleus, nucleolus (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9BYG7-1; Sequence=Displayed; Name=2; IsoId=Q9BYG7-2; Sequence=Not described; Name=3; IsoId=Q9BYG7-3; Sequence=Not described; Name=4; IsoId=Q9BYG7-4; Sequence=Not described; Ubiquitous. Contains 1 HEAT repeat. nucleus nucleolus uc002lex.1 uc002lex.2 uc002lex.3 uc002lex.4 
ENST00000256429.8 MBD2 ENST00000256429.8 Homo sapiens methyl-CpG binding domain protein 2 (MBD2), transcript variant 1, mRNA. (from RefSeq NM_003927) ENST00000256429.1 ENST00000256429.2 ENST00000256429.3 ENST00000256429.4 ENST00000256429.5 ENST00000256429.6 ENST00000256429.7 MBD2_HUMAN NM_003927 O95242 Q9UBB5 Q9UIS8 uc002lfg.1 uc002lfg.2 uc002lfg.3 DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. The protein encoded by this gene may function as a mediator of the biological consequences of the methylation signal. It is also reported that the this protein functions as a demethylase to activate transcription, as DNA methylation causes gene silencing. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]. Binds CpG islands in promoters where the DNA is methylated at position 5 of cytosine within CpG dinucleotides. Binds hemimethylated DNA as well. Recruits histone deacetylases and DNA methyltransferases. Acts as transcriptional repressor and plays a role in gene silencing. May enhance the activation of some unmethylated cAMP-responsive promoters. Heterodimer with MBD3. Part of the MeCP1 complex that contains HDAC1 and HDAC2. Binds DNMT1, MIZF, GPN1, SIN3A, GATAD2A/p66-alpha and p66-beta. Interacts with DHX9. Nucleus. Note=Nuclear, in discrete foci. Detected at replication foci in late S phase. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=MBD2a, MBD2b; IsoId=Q9UBB5-1; Sequence=Displayed; Name=3; IsoId=Q9UBB5-3; Sequence=VSP_011077, VSP_011078; Note=Incomplete sequence; Highly expressed in brain, heart, kidney, stomach, testis and placenta. Contains 1 MBD (methyl-CpG-binding) domain. Functional studies (PubMed:10050851, PubMed:10950960 and PubMed:12665568) have used a C-terminal fragment of isoform 1 which has been described originally as isoform MBD2b (PubMed:9774669) but cannot however be proven by supporting cDNA sequences. histone deacetylase complex negative regulation of transcription from RNA polymerase II promoter chromatin silencing at rDNA chromatin nuclear chromatin heterochromatin DNA binding chromatin binding satellite DNA binding mRNA binding protein binding nucleus nucleoplasm cytoplasm cytosol methylation-dependent chromatin silencing heart development aging methyl-CpG binding response to mechanical stimulus response to organic cyclic compound protein domain specific binding positive regulation of Wnt signaling pathway response to nutrient levels response to estradiol macromolecular complex cellular macromolecular complex assembly siRNA binding positive regulation of chromatin binding regulation of cell proliferation maternal behavior ATP-dependent chromatin remodeling regulation of DNA methylation negative regulation of transcription, DNA-templated embryonic organ development C2H2 zinc finger domain binding cellular response to organic cyclic compound RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II distal enhancer sequence-specific DNA binding nucleosomal DNA binding uc002lfg.1 uc002lfg.2 uc002lfg.3 
ENST00000256433.6 IER3IP1 ENST00000256433.6 Homo sapiens immediate early response 3 interacting protein 1 (IER3IP1), mRNA. (from RefSeq NM_016097) ENST00000256433.1 ENST00000256433.2 ENST00000256433.3 ENST00000256433.4 ENST00000256433.5 HSPC039 IR3IP_HUMAN NM_016097 Q9Y5U9 uc002lcu.1 uc002lcu.2 uc002lcu.3 uc002lcu.4 uc002lcu.5 uc002lcu.6 This gene encodes a small protein that is localized to the endoplasmic reticulum (ER) and may play a role in the ER stress response by mediating cell differentiation and apoptosis. Transcription of this gene is regulated by tumor necrosis factor alpha and specificity protein 1 (Sp1). Mutations in this gene may play a role in microcephaly, epilepsy, and diabetes syndrome (MEDS), and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Dec 2011]. ##Evidence-Data-START## Transcript exon combination :: AK027108.1, SRR1803617.7722.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2159080, SAMEA2467146 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000256433.6/ ENSP00000256433.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May be implicated in the regulation of apoptosis. May be involved in protein transport between endoplasmic reticulum and Golgi apparatus (By similarity). Endoplasmic reticulum membrane; Multi-pass membrane protein. Highest levels in heart, skeletal muscle, and kidney. Defects in IER3IP1 are the cause of microcephaly epilepsy and diabetes syndrome (MEDS) [MIM:614231]. An autosomal recessive disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes. Belongs to the YOS1 family. endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus ER to Golgi vesicle-mediated transport membrane integral component of membrane ER to Golgi transport vesicle integral component of Golgi membrane regulation of fibroblast apoptotic process uc002lcu.1 uc002lcu.2 uc002lcu.3 uc002lcu.4 uc002lcu.5 uc002lcu.6 
ENST00000256441.5 MRPS36 ENST00000256441.5 Homo sapiens mitochondrial ribosomal protein S36 (MRPS36), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_033281) DC47 ENST00000256441.1 ENST00000256441.2 ENST00000256441.3 ENST00000256441.4 NM_033281 P82909 Q9H2H4 RT36_HUMAN uc003jvq.1 uc003jvq.2 uc003jvq.3 uc003jvq.4 uc003jvq.5 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. The mitochondrial ribosome (mitoribosome) consists 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. Pseudogenes corresponding to this gene are found on chromosomes 3p, 4q, 8p, 11q, 12q, and 20p. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR5189652.195098.1, SRR1660807.297318.1 [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 :: ENST00000256441.5/ ENSP00000256441.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Component of the mitochondrial ribosome small subunit (28S) which comprises a 12S rRNA and about 30 distinct proteins. Mitochondrion. structural constituent of ribosome mitochondrion mitochondrial inner membrane mitochondrial small ribosomal subunit ribosome 2-oxoglutarate metabolic process translation mitochondrial oxoglutarate dehydrogenase complex oxidation-reduction process mitochondrial translational elongation mitochondrial translational termination oxoglutarate dehydrogenase (succinyl-transferring) activity uc003jvq.1 uc003jvq.2 uc003jvq.3 uc003jvq.4 uc003jvq.5 
ENST00000256442.10 CCNB1 ENST00000256442.10 Homo sapiens cyclin B1 (CCNB1), transcript variant 1, mRNA. (from RefSeq NM_031966) CCNB CCNB1_HUMAN ENST00000256442.1 ENST00000256442.2 ENST00000256442.3 ENST00000256442.4 ENST00000256442.5 ENST00000256442.6 ENST00000256442.7 ENST00000256442.8 ENST00000256442.9 NM_031966 P14635 uc003jvm.1 uc003jvm.2 uc003jvm.3 uc003jvm.4 uc003jvm.5 The protein encoded by this gene is a regulatory protein involved in mitosis. The gene product complexes with p34(cdc2) to form the maturation-promoting factor (MPF). The encoded protein is necessary for proper control of the G2/M transition phase of the cell cycle. [provided by RefSeq, Aug 2017]. Essential for the control of the cell cycle at the G2/M (mitosis) transition. Interacts with the CDC2 protein kinase to form a serine/threonine kinase holoenzyme complex also known as maturation promoting factor (MPF). The cyclin subunit imparts substrate specificity to the complex. Binds HEI10. Interacts with catalytically active RALBP1 and CDC2 during mitosis to form an endocytotic complex during interphase. Interacts with CCNF; interaction is required for nuclear localization. Q9NPC3:CCNB1IP1; NbExp=2; IntAct=EBI-495332, EBI-745269; P06493:CDK1; NbExp=4; IntAct=EBI-495332, EBI-444308; Q99640:PKMYT1; NbExp=2; IntAct=EBI-495332, EBI-495308; Q96PU4:UHRF2; NbExp=2; IntAct=EBI-495332, EBI-625304; Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, centrosome. Accumulates steadily during G2 and is abruptly destroyed at mitosis. Ubiquitinated by the SCF(NIPA) complex during interphase, leading to its destruction. Not ubiquitinated during G2/M phases. Phosphorylated by PLK1 at Ser-133 on centrosomes during prophase: phosphorylation by PLK1 does not cause nuclear import. Phosphorylation at Ser-147 was also reported to be mediated by PLK1 but Ser-133 seems to be the primary phosphorylation site. Belongs to the cyclin family. Cyclin AB subfamily. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CCNB1ID951ch5q13.html"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ccnb1/"; regulation of cyclin-dependent protein serine/threonine kinase activity G2/M transition of mitotic cell cycle mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex spindle pole condensed nuclear chromosome outer kinetochore oocyte maturation in utero embryonic development negative regulation of protein phosphorylation patched binding protein binding nucleus nucleoplasm cytoplasm mitochondrial matrix centrosome microtubule organizing center cytosol cytoskeleton transcription initiation from RNA polymerase II promoter protein phosphorylation DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest cell cycle mitotic spindle organization mitotic nuclear envelope disassembly mitotic metaphase plate congression spermatogenesis response to mechanical stimulus response to toxic substance negative regulation of gene expression positive regulation of G2/M transition of mitotic cell cycle membrane kinase activity cyclin-dependent protein serine/threonine kinase regulator activity protein kinase binding anaphase-promoting complex-dependent catabolic process positive regulation of mRNA 3'-end processing positive regulation of histone phosphorylation histone kinase activity tissue regeneration response to drug ubiquitin-like protein ligase binding mitotic cell cycle phase transition positive regulation of cyclin-dependent protein serine/threonine kinase activity positive regulation of cell cycle positive regulation of mitotic cell cycle response to DDT positive regulation of fibroblast proliferation digestive tract development cell division regulation of cell cycle positive regulation of attachment of spindle microtubules to kinetochore ventricular cardiac muscle cell development positive regulation of cardiac muscle cell proliferation regulation of chromosome condensation cyclin-dependent protein serine/threonine kinase activator activity macromolecular complex assembly cellular response to iron(III) ion cellular response to fatty acid cellular response to organic cyclic compound cellular response to hypoxia regulation of mitotic cell cycle spindle assembly checkpoint cyclin B1-CDK1 complex regulation of mitotic cell cycle phase transition positive regulation of mitochondrial ATP synthesis coupled electron transport histone H3-S10 phosphorylation involved in chromosome condensation protein kinase activity uc003jvm.1 uc003jvm.2 uc003jvm.3 uc003jvm.4 uc003jvm.5 
ENST00000256443.8 CDK7 ENST00000256443.8 Homo sapiens cyclin dependent kinase 7 (CDK7), transcript variant 10, non-coding RNA. (from RefSeq NR_136690) CAK CAK1 CDK7_HUMAN CDKN7 ENST00000256443.1 ENST00000256443.2 ENST00000256443.3 ENST00000256443.4 ENST00000256443.5 ENST00000256443.6 ENST00000256443.7 MO15 NR_136690 P50613 Q9BS60 Q9UE19 STK1 uc003jvs.1 uc003jvs.2 uc003jvs.3 uc003jvs.4 uc003jvs.5 uc003jvs.6 The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This protein forms a trimeric complex with cyclin H and MAT1, which functions as a Cdk-activating kinase (CAK). It is an essential component of the transcription factor TFIIH, that is involved in transcription initiation and DNA repair. This protein is thought to serve as a direct link between the regulation of transcription and the cell cycle. [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 :: SRR1660803.292471.1 [ECO:0000332] ##Evidence-Data-END## Serine/threonine kinase involved in cell cycle control and in RNA polymerase II-mediated RNA transcription. Cyclin- dependent kinases (CDKs) are activated by the binding to a cyclin and mediate the progression through the cell cycle. Each different complex controls a specific transition between 2 subsequent phases in the cell cycle. Required for both activation and complex formation of CDK1/cyclin-B during G2-M transition, and for activation of CDK2/cyclins during G1-S transition (but not complex formation). CDK7 is the catalytic subunit of the CDK-activating kinase (CAK) complex. Phosphorylates SPT5/SUPT5H, SF1/NR5A1, POLR2A, p53/TP53, CDK1, CDK2, CDK4, CDK6 and CDK11B/CDK11. CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation, thus regulating cell cycle progression. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminus domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Phosphorylation of POLR2A in complex with DNA promotes transcription initiation by triggering dissociation from DNA. Its expression and activity are constant throughout the cell cycle. Upon DNA damage, triggers p53/TP53 activation by phosphorylation, but is inactivated in turn by p53/TP53; this feedback loop may lead to an arrest of the cell cycle and of the transcription, helping in cell recovery, or to apoptosis. Required for DNA-bound peptides-mediated transcription and cellular growth inhibition. ATP + a protein = ADP + a phosphoprotein. ATP + [DNA-directed RNA polymerase] = ADP + [DNA-directed RNA polymerase] phosphate. Inactivated by phosphorylation. Repressed by roscovitine (seliciclib, CYC202), R547 (Ro-4584820) and SNS-032 (BMS-387032). The association of p53/TP53 to the CAK complex in response to DNA damage reduces kinase activity toward CDK2 and RNA polymerase II repetitive C-terminus domain (CTD), thus stopping cell cycle progression. The inactivation by roscovitine promotes caspase-mediated apoptosis in leukemic cells. Associates primarily with cyclin-H (CCNH) and MAT1 to form the CAK complex. CAK can further associate with the core- TFIIH to form the TFIIH basal transcription factor; this complex is sensitive to UV light. The CAK complex binds to p53/TP53 in response to DNA damage. Interacts with CDK2, SF1/NR5A1, PUF60 and PRKCI. Nucleus. Cytoplasm. Cytoplasm, perinuclear region. Note=Colocalizes with PRKCI in the cytoplasm and nucleus. Translocates from the nucleus to cytoplasm and perinuclear region in response to DNA-bound peptides. Ubiquitous. Repressed by DNA-bound peptides. Phosphorylation of Ser-164 during mitosis inactivates the enzyme. Phosphorylation of Thr-170 is required for activity. Phosphorylated at Ser-164 and Thr-170 by CDK2. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. Contains 1 protein kinase domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cdk7/"; regulation of cyclin-dependent protein serine/threonine kinase activity G1/S transition of mitotic cell cycle G2/M transition of mitotic cell cycle nucleotide binding transcription coactivator activity protein kinase activity protein serine/threonine kinase activity cyclin-dependent protein serine/threonine kinase activity protein binding ATP binding nucleus nucleoplasm holo TFIIH complex cytoplasm DNA repair transcription-coupled nucleotide-excision repair nucleotide-excision repair, preincision complex assembly transcription initiation from RNA polymerase I promoter transcription elongation from RNA polymerase I promoter termination of RNA polymerase I transcription transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter transcription elongation from RNA polymerase II promoter 7-methylguanosine mRNA capping protein phosphorylation cellular response to DNA damage stimulus cell cycle cell cycle arrest protein C-terminus binding DNA-dependent ATPase activity RNA polymerase II carboxy-terminal domain kinase activity kinase activity phosphorylation transferase activity cyclin-dependent protein kinase activating kinase holoenzyme complex androgen receptor signaling pathway snRNA transcription from RNA polymerase II promoter positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter perinuclear region of cytoplasm androgen receptor binding protein stabilization cell division TFIIK complex uc003jvs.1 uc003jvs.2 uc003jvs.3 uc003jvs.4 uc003jvs.5 uc003jvs.6 
ENST00000256447.5 CD180 ENST00000256447.5 Homo sapiens CD180 molecule (CD180), mRNA. (from RefSeq NM_005582) B2R7Z7 CD180_HUMAN ENST00000256447.1 ENST00000256447.2 ENST00000256447.3 ENST00000256447.4 LY64 NM_005582 Q32MM5 Q99467 RP105 uc003juy.1 uc003juy.2 uc003juy.3 CD180 is a cell surface molecule consisting of extracellular leucine-rich repeats (LRR) and a short cytoplasmic tail. The extracellular LRR is associated with a molecule called MD-1 and form the cell surface receptor complex, RP105/MD-1. It belongs to the family of pathogen receptors, Toll-like receptors (TLR). RP105/MD1, by working in concert with TLR4, controls B cell recognition and signaling of lipopolysaccharide (LPS), a membrane constituent of Gram-negative bacteria. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK313177.1, D83597.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000256447.5/ ENSP00000256447.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## May cooperate with MD-1 and TLR4 to mediate the innate immune response to bacterial lipopolysaccharide (LPS) in B-cells. Leads to NF-kappa-B activation. Also involved in the life/death decision of B-cells (By similarity). M-shaped tetramer of two CD180-LY86 heterodimers. Cell membrane; Single-pass type I membrane protein. Expressed mainly on mature peripherical B cells. Detected in spleen, lymph node and appendix. Not detected in pre-B and -T cells. Belongs to the Toll-like receptor family. Contains 19 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. Contains 1 LRRNT domain. B cell proliferation involved in immune response immune system process protein binding extracellular space plasma membrane inflammatory response membrane integral component of membrane extracellular matrix positive regulation of lipopolysaccharide-mediated signaling pathway innate immune response cellular response to lipopolysaccharide uc003juy.1 uc003juy.2 uc003juy.3 
ENST00000256458.5 IRAK2 ENST00000256458.5 Homo sapiens interleukin 1 receptor associated kinase 2 (IRAK2), mRNA. (from RefSeq NM_001570) B4DQZ6 ENST00000256458.1 ENST00000256458.2 ENST00000256458.3 ENST00000256458.4 IRAK2_HUMAN NM_001570 O43187 Q08AG6 Q5K546 uc003bve.1 uc003bve.2 uc003bve.3 IRAK2 encodes the interleukin-1 receptor-associated kinase 2, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. IRAK2 is reported to participate in the IL1-induced upregulation of NF-kappaB. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.88999.1, SRR1660805.220225.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000256458.5/ ENSP00000256458.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds to the IL-1 type I receptor following IL-1 engagement, triggering intracellular signaling cascades leading to transcriptional up-regulation and mRNA stabilization. Interacts with MYD88. IL-1 stimulation leads to the formation of a signaling complex which dissociates from the IL-1 receptor following the binding of PELI1. P10398:ARAF; NbExp=2; IntAct=EBI-447733, EBI-365961; P51617:IRAK1; NbExp=3; IntAct=EBI-447733, EBI-358664; Q9Y616:IRAK3; NbExp=3; IntAct=EBI-447733, EBI-447690; Q6PDS3:Sarm1 (xeno); NbExp=2; IntAct=EBI-447733, EBI-6117196; P46977:STT3A; NbExp=2; IntAct=EBI-447733, EBI-719212; Q13148:TARDBP; NbExp=2; IntAct=EBI-447733, EBI-372899; P58753:TIRAP; NbExp=2; IntAct=EBI-447733, EBI-528644; Q9H0E2:TOLLIP; NbExp=2; IntAct=EBI-447733, EBI-74615; Q9Y4K3:TRAF6; NbExp=3; IntAct=EBI-447733, EBI-359276; Q5D1E8:ZC3H12A; NbExp=2; IntAct=EBI-447733, EBI-747793; Expressed in spleen, thymus, prostate, lung, liver, skeletal muscle, kidney, pancreas and peripheral blood leukocytes. The protein kinase domain is predicted to be catalytically inactive. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. Pelle subfamily. Contains 1 death domain. Contains 1 protein kinase domain. Asn-335 is present instead of the conserved Asp which is expected to be an active site residue. This enzyme has been shown to be catalytically inactive. nucleotide binding activation of MAPK activity regulation of cytokine-mediated signaling pathway toll-like receptor signaling pathway MyD88-dependent toll-like receptor signaling pathway protein kinase activity protein serine/threonine kinase activity protein binding ATP binding nucleus cytoplasm cytosol plasma membrane protein phosphorylation inflammatory response signal transduction I-kappaB kinase/NF-kappaB signaling JNK cascade endosome membrane cytokine-mediated signaling pathway lipopolysaccharide-mediated signaling pathway negative regulation of NF-kappaB transcription factor activity toll-like receptor 9 signaling pathway intracellular signal transduction protein homodimerization activity negative regulation of sequence-specific DNA binding transcription factor activity protein heterodimerization activity positive regulation of NF-kappaB transcription factor activity nucleotide-binding oligomerization domain containing signaling pathway interleukin-1-mediated signaling pathway response to interleukin-1 uc003bve.1 uc003bve.2 uc003bve.3 
ENST00000256460.8 CAMK1 ENST00000256460.8 Homo sapiens calcium/calmodulin dependent protein kinase I (CAMK1), mRNA. (from RefSeq NM_003656) ENST00000256460.1 ENST00000256460.2 ENST00000256460.3 ENST00000256460.4 ENST00000256460.5 ENST00000256460.6 ENST00000256460.7 KCC1A_HUMAN NM_003656 Q14012 Q3KPF6 uc003bst.1 uc003bst.2 uc003bst.3 uc003bst.4 uc003bst.5 Calcium/calmodulin-dependent protein kinase I is expressed in many tissues and is a component of a calmodulin-dependent protein kinase cascade. Calcium/calmodulin directly activates calcium/calmodulin-dependent protein kinase I by binding to the enzyme and indirectly promotes the phosphorylation and synergistic activation of the enzyme by calcium/calmodulin-dependent protein kinase I kinase. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1124029.1, SRR3476690.341547.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000256460.8/ ENSP00000256460.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Calcium/calmodulin-dependent protein kinase that operates in the calcium-triggered CaMKK-CaMK1 signaling cascade and, upon calcium influx, regulates transcription activators activity, cell cycle, hormone production, cell differentiation, actin filament organization and neurite outgrowth. Recognizes the substrate consensus sequence [MVLIF]-x-R-x(2)-[ST]-x(3)-[MVLIF]. Regulates axonal extension and growth cone motility in hippocampal and cerebellar nerve cells. Upon NMDA receptor-mediated Ca(2+) elevation, promotes dendritic growth in hippocampal neurons and is essential in synapses for full long-term potentiation (LTP) and ERK2-dependent translational activation. Downstream of NMDA receptors, promotes the formation of spines and synapses in hippocampal neurons by phosphorylating ARHGEF7/BETAPIX on 'Ser- 694', which results in the enhancement of ARHGEF7 activity and activation of RAC1. Promotes neuronal differentiation and neurite outgrowth by activation and phosphorylation of MARK2 on 'Ser-91', 'Ser-92', 'Ser-93' and 'Ser-294'. Promotes nuclear export of HDAC5 and binding to 14-3-3 by phosphorylation of 'Ser-259' and 'Ser- 498' in the regulation of muscle cell differentiation. Regulates NUMB-mediated endocytosis by phosphorylation of NUMB on 'Ser-276' and 'Ser-295'. Involved in the regulation of basal and estrogen- stimulated migration of medulloblastoma cells through ARHGEF7/BETAPIX phosphorylation (By similarity). Is required for proper activation of cyclin-D1/CDK4 complex during G1 progression in diploid fibroblasts. Plays a role in K(+) and ANG2-mediated regulation of the aldosterone synthase (CYP11B2) to produce aldosterone in the adrenal cortex. Phosphorylates EIF4G3/eIF4GII. In vitro phosphorylates CREB1, ATF1, CFTR, MYL9, SYN1/synapsin I and SYNII/synapsin II. ATP + a protein = ADP + a phosphoprotein. Activated by Ca(2+)/calmodulin. Binding of calmodulin results in conformational change that relieves intrasteric autoinhibition and allows phosphorylation of Thr-177 within the activation loop by CaMKK1 or CaMKK2. Phosphorylation of Thr-177 results in several fold increase in total activity. Unlike CaMK4, is unable to exhibit autonomous activity after Ca(2+)/calmodulin activation. Monomer. Interacts with XPO1 (By similarity). Interacts with MARK2, ARHGEF7/BETAPIX and GIT1. Cytoplasm (By similarity). Nucleus (By similarity). Note=Predominantly cytoplasmic (By similarity). Widely expressed. Expressed in cells of the zona glomerulosa of the adrenal cortex. The autoinhibitory domain overlaps with the calmodulin binding region and interacts in the inactive folded state with the catalytic domain as a pseudosubstrate (By similarity). Phosphorylated by CaMKK1 and CaMKK2 on Thr-177. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily. Contains 1 protein kinase domain. nucleotide binding catalytic activity protein kinase activity protein serine/threonine kinase activity calmodulin-dependent protein kinase activity protein binding calmodulin binding ATP binding nucleus cytoplasm cytosol protein phosphorylation nucleocytoplasmic transport cell cycle signal transduction multicellular organism development nervous system development metabolic process positive regulation of neuron projection development postsynaptic density kinase activity phosphorylation transferase activity cell differentiation negative regulation of protein binding regulation of protein localization positive regulation of peptidyl-serine phosphorylation regulation of protein binding positive regulation of transcription from RNA polymerase II promoter positive regulation of protein export from nucleus regulation of synapse organization regulation of muscle cell differentiation positive regulation of muscle cell differentiation positive regulation of synapse structural plasticity positive regulation of syncytium formation by plasma membrane fusion positive regulation of dendritic spine development positive regulation of protein serine/threonine kinase activity glutamatergic synapse positive regulation of protein acetylation regulation of histone H3-K9 acetylation uc003bst.1 uc003bst.2 uc003bst.3 uc003bst.4 uc003bst.5 
ENST00000256474.3 VHL ENST00000256474.3 Homo sapiens von Hippel-Lindau tumor suppressor (VHL), transcript variant 1, mRNA. (from RefSeq NM_000551) B2RE45 ENST00000256474.1 ENST00000256474.2 NM_000551 P40337 Q13599 Q6PDA9 VHL_HUMAN uc003bvc.1 uc003bvc.2 uc003bvc.3 uc003bvc.4 uc003bvc.5 Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Seems to act as target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia- inducible factor (HIF) under normoxic conditions. Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases. Ubiquitinates, in an oxygen-responsive manner, ADRB2. Protein modification; protein ubiquitination. Component of the VCB (VHL-Elongin BC-CUL2) complex; this complex acts as a ubiquitin-ligase E3 and directs proteasome- dependent degradation of targeted proteins. Interacts with CUL2; this interaction is dependent on the integrity of the trimeric VBC complex. Interacts (via the beta domain) with HIF1A (via the NTAD domain); this interaction mediates degradation of HIF1A in normoxia and, in hypoxia, prevents ubiqitination and degradation of HIF1A by mediating hypoxia-induced translocation to the nucleus, a process which requires a hypoxia-dependent regulatory signal. Interacts with ADRB2; the interaction, in normoxia, is dependent on hydroxylation of ADRB2 and the subsequent VCB- mediated ubiquitination and degradation of ADRB2. Under hypoxia, hydroxylation, interaction with VHL, ubiquitination and subsequent degradation of ADRB2 are dramatically decreased. Interacts with RNF139, USP33 and PHF17. Found in a complex composed of LIMD1, VHL, EGLN1/PHD2, TCEB2 AND CUL2. Isoform 1 and isoform 3 interact with LIMD1 (via LIM zinc-binding 2), AJUBA (via LIM domains) and WTIP (via LIM domains). Interacts with EPAS1. O75912:DGKI; NbExp=3; IntAct=EBI-301270, EBI-1765520; Q9UM11:FZR1; NbExp=2; IntAct=EBI-3504450, EBI-724997; P63244:GNB2L1; NbExp=9; IntAct=EBI-301246, EBI-296739; Q16665:HIF1A; NbExp=6; IntAct=EBI-301246, EBI-447269; Q8WU17:RNF139; NbExp=2; IntAct=EBI-301246, EBI-1551681; P21980:TGM2; NbExp=10; IntAct=EBI-301246, EBI-727668; Isoform 1: Cytoplasm. Membrane; Peripheral membrane protein. Nucleus. Note=Found predominantly in the cytoplasm and with less amounts nuclear or membrane-associated. Colocalizes with ADRB2 at the cell membrane. Isoform 3: Cytoplasm. Nucleus. Note=Equally distributed between the nucleus and the cytoplasm but not membrane-associated. Event=Alternative splicing, Alternative initiation; Named isoforms=3; Name=1; Synonyms=VHL30, VHLp24(MPR); IsoId=P40337-1; Sequence=Displayed; Note=Major isoform; Name=2; IsoId=P40337-2; Sequence=VSP_004488; Name=3; Synonyms=VHL19, VHLp18(MEA); IsoId=P40337-3; Sequence=VSP_007740; Note=Produced by alternative initiation at Met-54 of isoform 1; Expressed in the adult and fetal brain and kidney. At 4-10 weeks pc, strong expression in the developing central nervous system, kidneys, testis and lung. Differentially expressed within renal tubules. The Elongin BC complex binding domain is also known as BC- box with the consensus [APST]-L-x(3)-C-x(3)-[AILV]. Defects in VHL are a cause of susceptibility to pheochromocytoma (PCC) [MIM:171300]. A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. Defects in VHL are the cause of von Hippel-Lindau disease (VHLD) [MIM:193300]. VHLD is a dominantly inherited familial cancer syndrome characterized by the development of retinal angiomatosis, cerebellar and spinal hemangioblastoma, renal cell carcinoma (RCC), phaeochromocytoma and pancreatic tumors. VHL type 1 is without pheochromocytoma, type 2 is with pheochromocytoma. VHL type 2 is further subdivided into types 2A (pheochromocytoma, retinal angioma, and hemangioblastomas without renal cell carcinoma and pancreatic cyst) and 2B (pheochromocytoma, retinal angioma, and hemangioblastomas with renal cell carcinoma and pancreatic cyst). VHL type 2C refers to patients with isolated pheochromocytoma without hemangioblastoma or renal cell carcinoma. The estimated incidence is 3/100000 births per year and penetrance is 97% by age 60 years. Defects in VHL are the cause of familial erythrocytosis type 2 (ECYT2) [MIM:263400]; also called VHL-dependent polycythemia or Chuvash type polycythemia. ECYT2 is an autosomal recessive disorder characterized by an increase in serum red blood cell mass, hypersensitivity of erythroid progenitors to erythropoietin, increased erythropoietin serum levels, and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events. Defects in VHL are a cause of renal cell carcinoma (RCC) [MIM:144700]. Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/VHLID132.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/VHL"; negative regulation of transcription from RNA polymerase II promoter cell morphogenesis ubiquitin-protein transferase activity protein binding nucleus nucleoplasm cytoplasm mitochondrion endoplasmic reticulum cytosol regulation of transcription, DNA-templated proteolysis transcription factor binding negative regulation of cell proliferation negative regulation of gene expression membrane protein ubiquitination enzyme binding VCB complex negative regulation of apoptotic process post-translational protein modification positive regulation of cell differentiation positive regulation of transcription, DNA-templated negative regulation of JAK-STAT cascade protein stabilization regulation of transcription from RNA polymerase II promoter in response to hypoxia negative regulation of transcription from RNA polymerase II promoter in response to hypoxia ubiquitin protein ligase activity uc003bvc.1 uc003bvc.2 uc003bvc.3 uc003bvc.4 uc003bvc.5 
ENST00000256495.4 BHLHE40 ENST00000256495.4 Homo sapiens basic helix-loop-helix family member e40 (BHLHE40), mRNA. (from RefSeq NM_003670) BHLHB2 ENST00000256495.1 ENST00000256495.2 ENST00000256495.3 NM_003670 Q6IB83 Q6IB83_HUMAN hCG_20358 uc003bqf.1 uc003bqf.2 uc003bqf.3 uc003bqf.4 uc003bqf.5 This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. [provided by RefSeq, Feb 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.222229.1, SRR1803616.182345.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000256495.4/ ENSP00000256495.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Contains 1 Orange domain. Contains 1 bHLH (basic helix-loop-helix) domain. Contains 1 basic helix-loop-helix (bHLH) domain. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II activating transcription factor binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription corepressor activity nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter circadian rhythm response to light stimulus nuclear body circadian regulation of gene expression regulation of circadian rhythm entrainment of circadian clock by photoperiod MRF binding negative regulation of transcription, DNA-templated protein heterodimerization activity protein dimerization activity E-box binding uc003bqf.1 uc003bqf.2 uc003bqf.3 uc003bqf.4 uc003bqf.5 
ENST00000256496.8 ARL8B ENST00000256496.8 Homo sapiens ADP ribosylation factor like GTPase 8B (ARL8B), mRNA. (from RefSeq NM_018184) ARL10C ARL8B_HUMAN ENST00000256496.1 ENST00000256496.2 ENST00000256496.3 ENST00000256496.4 ENST00000256496.5 ENST00000256496.6 ENST00000256496.7 GIE1 NM_018184 Q9NVJ2 uc003bqg.1 uc003bqg.2 uc003bqg.3 uc003bqg.4 uc003bqg.5 May play a role in lysosome motility (PubMed:16537643). May play a role in chromosome segregation (PubMed:15331635). Interacts with tubulin. Late endosome membrane. Lysosome membrane. Cytoplasm, cytoskeleton, spindle. Note=According to PubMed:15331635, it localizes with microtubules at the spindle mid-zone during mitosis. Ubiquitously expressed. Belongs to the small GTPase superfamily. Arf family. nucleotide binding GTPase activity protein binding GTP binding cytoplasm lysosome lysosomal membrane endosome vacuolar membrane spindle cytoskeleton cell cycle chromosome segregation anterograde axonal transport protein transport membrane GDP binding cell junction axon midbody late endosome membrane lysosome localization cell projection alpha-tubulin binding synapse beta-tubulin binding spindle midzone cell division extracellular exosome axon cytoplasm uc003bqg.1 uc003bqg.2 uc003bqg.3 uc003bqg.4 uc003bqg.5 
ENST00000256497.9 EDEM1 ENST00000256497.9 Homo sapiens ER degradation enhancing alpha-mannosidase like protein 1 (EDEM1), mRNA. (from RefSeq NM_014674) A8K9C8 EDEM EDEM1_HUMAN ENST00000256497.1 ENST00000256497.2 ENST00000256497.3 ENST00000256497.4 ENST00000256497.5 ENST00000256497.6 ENST00000256497.7 ENST00000256497.8 KIAA0212 NM_014674 Q92611 uc003bqi.1 uc003bqi.2 uc003bqi.3 uc003bqi.4 uc003bqi.5 Extracts misfolded glycoproteins, but not glycoproteins undergoing productive folding, from the calnexin cycle. It is directly involved in endoplasmic reticulum-associated degradation (ERAD) and targets misfolded glycoproteins for degradation in an N-glycan-independent manner, probably by forming a complex with SEL1L. It lacks mannosidase activity. Interacts with DERL2 and DERL3. Binds to SEL1L. Q7L1Q6:BZW1; NbExp=1; IntAct=EBI-1056336, EBI-1046727; Endoplasmic reticulum membrane; Single-pass type II membrane protein. Belongs to the glycosyl hydrolase 47 family. Sequence=BAA13203.2; Type=Erroneous initiation; catalytic activity mannosyl-oligosaccharide 1,2-alpha-mannosidase activity calcium ion binding protein binding endoplasmic reticulum endoplasmic reticulum membrane response to unfolded protein membrane integral component of membrane aggresome integral component of endoplasmic reticulum membrane ER-associated ubiquitin-dependent protein catabolic process IRE1-mediated unfolded protein response trimming of terminal mannose on C branch endoplasmic reticulum quality control compartment misfolded protein binding glycoprotein ERAD pathway positive regulation of retrograde protein transport, ER to cytosol mannose trimming involved in glycoprotein ERAD pathway uc003bqi.1 uc003bqi.2 uc003bqi.3 uc003bqi.4 uc003bqi.5 
ENST00000256509.7 CHL1 ENST00000256509.7 Homo sapiens cell adhesion molecule L1 like (CHL1), transcript variant 1, mRNA. (from RefSeq NM_006614) B7ZL03 CALL CHL1_HUMAN ENST00000256509.1 ENST00000256509.2 ENST00000256509.3 ENST00000256509.4 ENST00000256509.5 ENST00000256509.6 NM_006614 O00533 Q2M3G2 Q59FY0 uc003bot.1 uc003bot.2 uc003bot.3 uc003bot.4 uc003bot.5 The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011]. Extracellular matrix and cell adhesion protein that plays a role in nervous system development and in synaptic plasticity. Both soluble and membranous forms promote neurite outgrowth of cerebellar and hippocampal neurons and suppress neuronal cell death. Plays a role in neuronal positioning of pyramidal neurons and in regulation of both the number of interneurons and the efficacy of GABAergic synapses. May play a role in regulating cell migration in nerve regeneration and cortical development. Potentiates integrin-dependent cell migration towards extracellular matrix proteins. Recruits ANK3 to the plasma membrane (By similarity). May interact with L1CAM. May interact with ITGB1/ITGA1 heterodimer and ITGB1/ITGA2 heterodimer as well as with ANK3 (By similarity). Cell membrane; Single-pass type I membrane protein (By similarity). Note=Soluble forms produced by cleavage/shedding also exist (By similarity). Processed neural cell adhesion molecule L1- like protein: Secreted, extracellular space, extracellular matrix (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O00533-1; Sequence=Displayed; Name=2; IsoId=O00533-2; Sequence=VSP_020082; Note=Glycosylated on Asn-231; Expressed in the fetal and adult brain as well as in Schwann cell culture. Also detected in adult peripheral tissues. The FIG[AQ]Y motif seems to be an ankyrin recruitment region. The DGEA motif seems to be a recognition site for integrin. Cleavage by metalloprotease ADAM8 in the extracellular part generates 2 soluble forms (125 kDa and 165 kDa) in vitro and is inhibited by metalloprotease inhibitors. N-glycosylated. Contains N-linked oligosaccharides with a sulfated carbohydrate structure type HNK-1 (SO4-3- GlcUABeta1,3GalBeta1,4GlcNAc) (By similarity). O-glycosylated (By similarity). Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family. Contains 4 fibronectin type-III domains. Contains 6 Ig-like C2-type (immunoglobulin-like) domains. Sequence=BAD92566.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; neuron migration protease binding extracellular region plasma membrane cell adhesion signal transduction multicellular organism development nervous system development axon guidance adult locomotory behavior membrane integral component of membrane cell differentiation dendrite neuron projection development exploration behavior negative regulation of neuron apoptotic process apical part of cell cognition extracellular exosome uc003bot.1 uc003bot.2 uc003bot.3 uc003bot.4 uc003bot.5 
ENST00000256538.9 DPH6 ENST00000256538.9 Homo sapiens diphthamine biosynthesis 6 (DPH6), transcript variant 1, mRNA. (from RefSeq NM_080650) ATBD4_HUMAN ATPBD4 B3KWG1 ENST00000256538.1 ENST00000256538.2 ENST00000256538.3 ENST00000256538.4 ENST00000256538.5 ENST00000256538.6 ENST00000256538.7 ENST00000256538.8 NM_080650 Q7L8W6 Q96HJ6 uc001zja.1 uc001zja.2 uc001zja.3 uc001zja.4 uc001zja.5 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7L8W6-1; Sequence=Displayed; Name=2; IsoId=Q7L8W6-2; Sequence=VSP_042933; Note=No experimental confirmation available; nucleotide binding ATP binding nucleus nucleolus cytosol ligase activity diphthine-ammonia ligase activity peptidyl-diphthamide biosynthetic process from peptidyl-histidine uc001zja.1 uc001zja.2 uc001zja.3 uc001zja.4 uc001zja.5 
ENST00000256544.8 KATNBL1 ENST00000256544.8 Homo sapiens katanin regulatory subunit B1 like 1 (KATNBL1), mRNA. (from RefSeq NM_024713) A8KAF6 C15orf29 ENST00000256544.1 ENST00000256544.2 ENST00000256544.3 ENST00000256544.4 ENST00000256544.5 ENST00000256544.6 ENST00000256544.7 KTBL1_HUMAN NM_024713 Q2TAC0 Q9H079 Q9H670 uc001zhp.1 uc001zhp.2 uc001zhp.3 uc001zhp.4 uc001zhp.5 Sequence=BAB15394.1; Type=Erroneous initiation; Note=Translation N-terminally extended; spindle pole protein binding nucleus nucleolus cytoplasm cytoskeleton positive regulation of cytoskeleton organization mitotic spindle pole uc001zhp.1 uc001zhp.2 uc001zhp.3 uc001zhp.4 uc001zhp.5 
ENST00000256545.9 EMC7 ENST00000256545.9 Homo sapiens ER membrane protein complex subunit 7 (EMC7), mRNA. (from RefSeq NM_020154) B2RC00 C11orf3 C15orf24 EMC7_HUMAN ENST00000256545.1 ENST00000256545.2 ENST00000256545.3 ENST00000256545.4 ENST00000256545.5 ENST00000256545.6 ENST00000256545.7 ENST00000256545.8 HT022 NM_020154 Q96ED5 Q9NPA0 UNQ905/PRO1926 uc001zhm.1 uc001zhm.2 uc001zhm.3 uc001zhm.4 uc001zhm.5 Component of the ER membrane protein complex (EMC). Membrane; Single-pass type I membrane protein. Belongs to the EMC7 family. Has been termed C11orf3 (PubMed:10873569), but is not the official C11orf3 as defined by HGNC and furthermore maps to chromosome 15. biological_process membrane integral component of membrane carbohydrate binding ER membrane protein complex uc001zhm.1 uc001zhm.2 uc001zhm.3 uc001zhm.4 uc001zhm.5 
ENST00000256552.11 TRPM1 ENST00000256552.11 Homo sapiens transient receptor potential cation channel subfamily M member 1 (TRPM1), transcript variant 3, mRNA. (from RefSeq NM_001252024) ENST00000256552.1 ENST00000256552.10 ENST00000256552.2 ENST00000256552.3 ENST00000256552.4 ENST00000256552.5 ENST00000256552.6 ENST00000256552.7 ENST00000256552.8 ENST00000256552.9 LTRPC1 MLSN MLSN1 NM_001252024 O75560 Q7Z4N1 Q7Z4N2 Q7Z4N3 Q7Z4N4 Q7Z4N5 TRPM1_HUMAN uc021shz.1 uc021shz.2 uc021shz.3 This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis. Specific mutations in this gene are the cause autosomal recessive complete congenital stationary night blindness-1C. The expression of this protein is inversely correlated with melanoma aggressiveness and as such it is used as a prognostic marker for melanoma metastasis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]. Cation channel essential for the depolarizing photoresponse of retinal ON bipolar cells. It is part of the GRM6 signaling cascade. May play a role in metastasis suppression (By similarity). May act as a spontaneously active, calcium-permeable plasma membrane channel. Cell membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q7Z4N2-1; Sequence=Displayed; Note=No experimental confirmation available; Name=2; IsoId=Q7Z4N2-2; Sequence=VSP_052748; Name=3; IsoId=Q7Z4N2-3; Sequence=VSP_052749; Name=4; IsoId=Q7Z4N2-4; Sequence=VSP_052750; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Expressed in the retina where it localizes to the outer plexiform layer. Highly expressed in benign melanocytic nevi and diffusely expressed in various in situ melanomas, but not detected in melanoma metastases. Also expressed in melanocytes and pigmented metastatic melanoma cell lines. In melanocytes expression appears to be regulated at the level of transcription and mRNA processing. Up-regulated by hexamethylene bisacetamide (HBMA). Defects in TRPM1 are the cause of congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]. A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM1 sub-subfamily. ion channel activity cation channel activity calcium channel activity plasma membrane integral component of plasma membrane ion transport signal transduction G-protein coupled glutamate receptor signaling pathway visual perception membrane integral component of membrane ion transmembrane transport new growing cell tip retinal rod cell development response to stimulus protein tetramerization transmembrane transport calcium ion transport into cytosol calcium ion transmembrane transport cellular response to light stimulus uc021shz.1 uc021shz.2 uc021shz.3 
ENST00000256592.3 TSHB ENST00000256592.3 Homo sapiens thyroid stimulating hormone subunit beta (TSHB), transcript variant 1, mRNA. (from RefSeq NM_000549) B1AKP0 ENST00000256592.1 ENST00000256592.2 NM_000549 P01222 Q16163 TSHB_HUMAN uc001efs.1 uc001efs.2 uc001efs.3 The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. Thyroid stimulating hormone functions in the control of thyroid structure and metabolism. The protein encoded by this gene is the beta subunit of thyroid stimulating hormone. Mutations in this gene are associated with congenital central and secondary hypothyroidism and Hashimoto's thyroiditis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]. Indispensable for the control of thyroid structure and metabolism. Heterodimer of a common alpha chain and a unique beta chain which confers biological specificity to thyrotropin, lutropin, follitropin and gonadotropin. Secreted. Available under the name Thyrogen (Genzyme). Used in combination with other tests to detect recurring or leftover thyroid cancer cells in patients with a history of certain types of thyroid cancer. Belongs to the glycoprotein hormones subunit beta family. Name=Thyrogen; Note=Clinical information on Thyrogen; URL="http://www.thyrogen.com/home/thy_home.asp"; Name=Wikipedia; Note=Thyroid-stimulating hormone entry; URL="http://en.wikipedia.org/wiki/Thyroid-stimulating_hormone"; hormone activity extracellular region extracellular space cytoplasm G-protein coupled receptor signaling pathway cell-cell signaling anatomical structure morphogenesis hormone-mediated signaling pathway peptide hormone processing response to vitamin A response to estrogen response to calcium ion uc001efs.1 uc001efs.2 uc001efs.3 
ENST00000256593.8 GSTM5 ENST00000256593.8 Homo sapiens glutathione S-transferase mu 5 (GSTM5), mRNA. (from RefSeq NM_000851) ENST00000256593.1 ENST00000256593.2 ENST00000256593.3 ENST00000256593.4 ENST00000256593.5 ENST00000256593.6 ENST00000256593.7 NM_000851 Q5T8R2 Q5T8R2_HUMAN RP4-735C1.1-001 hCG_40245 uc001dyn.1 uc001dyn.2 uc001dyn.3 uc001dyn.4 uc001dyn.5 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189658.68655.1, SRR3476690.576038.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000256593.8/ ENSP00000256593.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Belongs to the GST superfamily. Contains 1 GST C-terminal domain. Contains 1 GST N-terminal domain. glutathione transferase activity cytosol transferase activity intercellular bridge uc001dyn.1 uc001dyn.2 uc001dyn.3 uc001dyn.4 uc001dyn.5 
ENST00000256637.8 SORT1 ENST00000256637.8 Homo sapiens sortilin 1 (SORT1), transcript variant 1, mRNA. (from RefSeq NM_002959) C0JYZ0 ENST00000256637.1 ENST00000256637.2 ENST00000256637.3 ENST00000256637.4 ENST00000256637.5 ENST00000256637.6 ENST00000256637.7 NM_002959 Q8IZ49 Q99523 SORT_HUMAN uc001dxm.1 uc001dxm.2 uc001dxm.3 uc001dxm.4 This gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by furin to generate the mature receptor. This receptor plays a role in the trafficking of different proteins to either the cell surface, or subcellular compartments such as lysosomes and endosomes. Expression levels of this gene may influence the risk of myocardial infarction in human patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]. Functions as a sorting receptor in the Golgi compartment and as a clearance receptor on the cell surface. Required for protein transport from the Golgi apparatus to the lysosomes by a pathway that is independent of the mannose-6-phosphate receptor (M6PR). Also required for protein transport from the Golgi apparatus to the endosomes. Promotes neuronal apoptosis by mediating endocytosis of the proapoptotic precursor forms of BDNF (proBDNF) and NGFB (proNGFB). Also acts as a receptor for neurotensin. May promote mineralization of the extracellular matrix during osteogenic differentiation by scavenging extracellular LPL. Probably required in adipocytes for the formation of specialized storage vesicles containing the glucose transporter SLC2A4/GLUT4 (GLUT4 storage vesicles, or GSVs). These vesicles provide a stable pool of SLC2A4 and confer increased responsiveness to insulin. May also mediate transport from the endoplasmic reticulum to the Golgi. Interacts with LPL and SLC2A4 (By similarity). Interacts with the cytosolic adapter proteins GGA1 and GGA2. Interacts with numerous ligands including the receptor-associated protein LRPAP1/RAP, GM2A, NTS and PSAP. Forms a complex with NGFR which binds specifically to the precursor forms of NGFB (proNGFB) and BDNF (proBDNF). Interacts with the Trk receptors NTRK1, NTRK2 and NTRK3; may regulate their anterograde axonal transport and signaling. P24941:CDK2; NbExp=1; IntAct=EBI-1057058, EBI-375096; Q9UJY5:GGA1; NbExp=1; IntAct=EBI-1057058, EBI-447141; Membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein (Potential). Endosome membrane; Single-pass type I membrane protein (Potential). Golgi apparatus, Golgi stack membrane; Single-pass type I membrane protein (Potential). Nucleus membrane; Single-pass type I membrane protein (Potential). Cell membrane; Single-pass type I membrane protein; Extracellular side. Lysosome membrane; Single-pass type I membrane protein (Potential). Note=Localized to membranes of the endoplasmic reticulum, endosomes, Golgi stack, lysosomes and nucleus. A small fraction of the protein is also localized to the plasma membrane. May also be found in SLC2A4/GLUT4 storage vesicles (GSVs) in adipocytes. Localization to the plasma membrane in adipocytes may be enhanced by insulin. Expressed at high levels in brain, spinal cord, heart, skeletal muscle, thyroid, placenta and testis. Expressed at lower levels in lymphoid organs, kidney, colon and liver. During osteoblast differentiation. The N-terminal propeptide may facilitate precursor transport within the Golgi stack. Intrachain binding of the N- terminal propeptide and the extracellular domain may also inhibit premature ligand binding. The extracellular domain may be shed following protease cleavage in some cell types. The N-terminal propeptide is cleaved by furin and possibly other homologous proteases. Genetic variations in SORT1 influence low density lipoprotein cholesterol (LDL-C) variability and contribute to the low density lipoprotein cholesterol level quantitative trait locus 6 (LDLCQ6) [MIM:613589]. Note=A common polymorphism located in a non-coding region between CELSR2 and PSRC1 alters a CEBP transcription factor binding site and is responsible for changes in hepatic expression of SORT1. Altered SORT1 expression in liver affects low density lipoprotein cholesterol levels in plasma and is associated with susceptibility to myocardial infarction. Belongs to the VPS10-related sortilin family. SORT1 subfamily. Contains 9 BNR repeats. ossification protein binding nucleus lysosome lysosomal membrane endosome early endosome endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus cytosol plasma membrane clathrin-coated pit post-Golgi vesicle-mediated transport Golgi to endosome transport endocytosis G-protein coupled receptor signaling pathway neuropeptide signaling pathway multicellular organism development endosome to lysosome transport extrinsic apoptotic signaling pathway via death domain receptors cell surface endosome membrane nerve growth factor receptor activity regulation of gene expression myotube differentiation membrane integral component of membrane vesicle organization enzyme binding clathrin-coated vesicle trans-Golgi network transport vesicle cell differentiation neurotensin receptor activity, non-G-protein coupled dendrite cytoplasmic vesicle membrane cytoplasmic vesicle nuclear membrane endosome transport via multivesicular body sorting pathway Golgi cisterna membrane response to insulin nerve growth factor signaling pathway neuronal cell body intracellular membrane-bounded organelle negative regulation of fat cell differentiation glucose import neurotrophin TRK receptor signaling pathway plasma membrane to endosome transport nerve growth factor binding perinuclear region of cytoplasm negative regulation of lipoprotein lipase activity positive regulation of epithelial cell apoptotic process uc001dxm.1 uc001dxm.2 uc001dxm.3 uc001dxm.4 
ENST00000256646.7 NOTCH2 ENST00000256646.7 Homo sapiens notch receptor 2 (NOTCH2), transcript variant 1, mRNA. (from RefSeq NM_024408) ENST00000256646.1 ENST00000256646.2 ENST00000256646.3 ENST00000256646.4 ENST00000256646.5 ENST00000256646.6 NM_024408 NOTC2_HUMAN Q04721 Q5T3X7 Q99734 Q9H240 uc001eik.1 uc001eik.2 uc001eik.3 uc001eik.4 uc001eik.5 This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]. Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity). Involved in bone remodeling and homeostasis. In collaboration with RELA/p65 enhances NFATc1 promoter activity and positively regulates RANKL-induced osteoclast differentiation. Heterodimer of a C-terminal fragment N(TM) and an N- terminal fragment N(EC) which are probably linked by disulfide bonds (By similarity). Interacts with MAML1, MAML2 and MAML3 which act as transcriptional coactivators for NOTCH2. Interacts with RELA/p65 (By similarity). Interacts with HIF1AN. Cell membrane; Single-pass type I membrane protein. Notch 2 intracellular domain: Nucleus. Note=Following proteolytical processing NICD is translocated to the nucleus. Expressed in the brain, heart, kidney, lung, skeletal muscle and liver. Ubiquitously expressed in the embryo. Synthesized in the endoplasmic reticulum as an inactive form which is proteolytically cleaved by a furin-like convertase in the trans-Golgi network before it reaches the plasma membrane to yield an active, ligand-accessible form. Cleavage results in a C- terminal fragment N(TM) and a N-terminal fragment N(EC). Following ligand binding, it is cleaved by TNF-alpha converting enzyme (TACE) to yield a membrane-associated intermediate fragment called notch extracellular truncation (NEXT). This fragment is then cleaved by presenilin dependent gamma-secretase to release a notch-derived peptide containing the intracellular domain (NICD) from the membrane (By similarity). Hydroxylated by HIF1AN. Defects in NOTCH2 are the cause of Alagille syndrome type 2 (ALGS2) [MIM:610205]. Alagille syndrome is an autosomal dominant multisystem disorder defined clinically by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems. Defects in NOTCH2 are the cause of Hajdu-Cheney syndrome (HJCYS) [MIM:102500]. A rare skeletal disorder characterized by the association of facial anomalies, acro-osteolysis, general osteoporosis, insufficient ossification of the skull, and periodontal disease (premature loss of permanent teeth). Other features include cleft palate, congenital heart defects, polycystic kidneys, orthopedic problems and anomalies of the genitalia, intestines and eyes. Note=NOTCH2 mutations associated with Hajdu-Cheney syndrome cluster to the last coding exon of the gene. This suggests that the mutant mRNA products may escape nonsense-mediated decay and the resulting truncated NOTCH2 proteins act in a gain-of-function manner. Belongs to the NOTCH family. Contains 6 ANK repeats. Contains 35 EGF-like domains. Contains 3 LNR (Lin/Notch) repeats. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/NOTCH2ID41556ch1p12.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NOTCH2"; Golgi membrane cell fate determination marginal zone B cell differentiation pulmonary valve morphogenesis calcium ion binding protein binding extracellular region nucleus nucleoplasm cytoplasm endoplasmic reticulum membrane plasma membrane integral component of plasma membrane regulation of transcription, DNA-templated transcription initiation from RNA polymerase II promoter apoptotic process cell cycle arrest Notch signaling pathway multicellular organism development nervous system development animal organ morphogenesis cell surface negative regulation of gene expression positive regulation of keratinocyte proliferation membrane integral component of membrane stem cell population maintenance hemopoiesis cell differentiation signaling receptor activity negative regulation of apoptotic process receptor complex negative regulation of growth rate positive regulation of Ras protein signal transduction bone remodeling regulation of developmental process atrial septum morphogenesis Notch signaling involved in heart development positive regulation of ERK1 and ERK2 cascade regulation of actin cytoskeleton reorganization regulation of osteoclast development uc001eik.1 uc001eik.2 uc001eik.3 uc001eik.4 uc001eik.5 
ENST00000256649.9 TRIM45 ENST00000256649.9 Homo sapiens tripartite motif containing 45 (TRIM45), transcript variant 1, mRNA. (from RefSeq NM_025188) ENST00000256649.1 ENST00000256649.2 ENST00000256649.3 ENST00000256649.4 ENST00000256649.5 ENST00000256649.6 ENST00000256649.7 ENST00000256649.8 NM_025188 Q53GN0 Q5T2K4 Q5T2K5 Q8IYV6 Q9H8W5 RNF99 TRI45_HUMAN uc001egz.1 uc001egz.2 uc001egz.3 uc001egz.4 This gene encodes a member of the tripartite motif family. The encoded protein may function as a transcriptional repressor of the mitogen-activated protein kinase pathway. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2009]. May act as a transcriptional repressor in mitogen- activated protein kinase signaling pathway. Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H8W5-1; Sequence=Displayed; Name=2; IsoId=Q9H8W5-2; Sequence=VSP_012000; Note=No experimental confirmation available; Expressed in skeletal muscle, brain, heart and pancreas. Expressed in brain, lung, skeletal muscle, heart and intestine in 80-day old embryo. Belongs to the TRIM/RBCC family. Contains 2 B box-type zinc fingers. Contains 1 filamin repeat. Contains 1 RING-type zinc finger. nucleus nucleoplasm cytoplasm cytosol zinc ion binding intercellular bridge metal ion binding bone development uc001egz.1 uc001egz.2 uc001egz.3 uc001egz.4 
ENST00000256682.9 ARF3 ENST00000256682.9 Homo sapiens ADP ribosylation factor 3 (ARF3), mRNA. (from RefSeq NM_001659) A8K6G8 ARF3_HUMAN ENST00000256682.1 ENST00000256682.2 ENST00000256682.3 ENST00000256682.4 ENST00000256682.5 ENST00000256682.6 ENST00000256682.7 ENST00000256682.8 NM_001659 P16587 P61204 uc001rsr.1 uc001rsr.2 uc001rsr.3 uc001rsr.4 ADP-ribosylation factor 3 (ARF3) is a member of the human 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) and members of each class share a common gene organization. The ARF3 gene contains five exons and four introns. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M74491.1, SRR3476690.1025705.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000256682.9/ ENSP00000256682.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##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. Interacts with PRKCABP. Interacts with PI4KB and NCS1/FREQ at the Golgi complex. Golgi apparatus. Cytoplasm, perinuclear region. Belongs to the small GTPase superfamily. Arf family. Golgi membrane nucleotide binding GTPase activity GTP binding cytoplasm Golgi apparatus plasma membrane phosphatidylinositol biosynthetic process intracellular protein transport retrograde vesicle-mediated transport, Golgi to ER protein transport vesicle-mediated transport perinuclear region of cytoplasm extracellular exosome uc001rsr.1 uc001rsr.2 uc001rsr.3 uc001rsr.4 
ENST00000256689.10 SLC38A2 ENST00000256689.10 Homo sapiens solute carrier family 38 member 2 (SLC38A2), transcript variant 1, mRNA. (from RefSeq NM_018976) ATA2 ENST00000256689.1 ENST00000256689.2 ENST00000256689.3 ENST00000256689.4 ENST00000256689.5 ENST00000256689.6 ENST00000256689.7 ENST00000256689.8 ENST00000256689.9 KIAA1382 NM_018976 Q6IA88 Q6ZMG2 Q96QD8 Q9HAV3 Q9NVA8 Q9P2G5 S38A2_HUMAN SAT2 SNAT2 uc001rpg.1 uc001rpg.2 uc001rpg.3 uc001rpg.4 uc001rpg.5 Functions as a sodium-dependent amino acid transporter. Mediates the saturable, pH-sensitive and electrogenic cotransport of neutral amino acids and sodium ions with a stoichiometry of 1:1. May function in the transport of amino acids at the blood- brain barrier and in the supply of maternal nutrients to the fetus through the placenta. Inhibited by N-methyl-D-glucamine and probably choline. Kinetic parameters: KM=0.39 mM for 2-methylamino-isobutyric acid (MeAIB) (at pH 8.0); Cell membrane; Multi-pass membrane protein. Note=Insulin promotes recruitment to the plasma membrane from a pool localized in the trans-Golgi network or endosomes (By similarity). Enriched in the somatodendritic compartment of neurons, it is also detected at the axonal shaft but excluded from the nerve terminal. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96QD8-1; Sequence=Displayed; Name=2; IsoId=Q96QD8-2; Sequence=VSP_029553, VSP_029554; Ubiquitously expressed. Widely expressed in the central nervous system with higher concentrations in caudal regions. Expressed by glutamatergic and GABAergic neurons together with astrocytes and other non-neuronal cells in the cerebral cortex (at protein level). Up-regulated upon hypertonic conditions and amino acid deprivation. Polyubiquitination by NEDD4L regulates the degradation and the activity of SLC38A2 (By similarity). Depletion of SCL38A2 by siRNA prevents the recovery of cells from hypertonic stress. Belongs to the amino acid/polyamine transporter 2 family. Sequence=BAD18765.1; Type=Erroneous initiation; amino acid transmembrane transport protein binding plasma membrane integral component of plasma membrane brush border ion transport sodium ion transport amino acid transport glutamine transport female pregnancy glutamate secretion amino acid transmembrane transporter activity L-glutamine transmembrane transporter activity symporter activity membrane integral component of membrane cerebral cortex development axon dendrite glycine betaine transport alanine transport cellular response to amino acid starvation sarcolemma neuronal cell body cellular response to mechanical stimulus uc001rpg.1 uc001rpg.2 uc001rpg.3 uc001rpg.4 uc001rpg.5 
ENST00000256720.6 LPIN1 ENST00000256720.6 Homo sapiens lipin 1 (LPIN1), transcript variant 15, non-coding RNA. (from RefSeq NR_146080) ENST00000256720.1 ENST00000256720.2 ENST00000256720.3 ENST00000256720.4 ENST00000256720.5 KIAA0188 LPIN1_HUMAN NR_146080 Q14693 Q53T25 uc002rbt.1 uc002rbt.2 uc002rbt.3 uc002rbt.4 uc002rbt.5 This gene encodes a magnesium-ion-dependent phosphatidic acid phosphohydrolase enzyme that catalyzes the penultimate step in triglyceride synthesis including the dephosphorylation of phosphatidic acid to yield diacylglycerol. Expression of this gene is required for adipocyte differentiation and it also functions as a nuclear transcriptional coactivator with some peroxisome proliferator-activated receptors to modulate expression of other genes involved in lipid metabolism. Mutations in this gene are associated with metabolic syndrome, type 2 diabetes, acute recurrent rhabdomyolysis, and autosomal recessive acute recurrent myoglobinuria (ARARM). This gene is also a candidate for several human lipodystrophy syndromes. [provided by RefSeq, Mar 2017]. Plays important roles in controlling the metabolism of fatty acids at differents levels. Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis in the reticulum endoplasmic membrane. Acts also as a nuclear transcriptional coactivator for PPARGC1A/PPARA to modulate lipid metabolism gene expression (By similarity). Is involved in adipocyte differentiation. May also be involved in mitochondrial fission by converting phosphatidic acid to diacylglycerol (By similarity). A 1,2-diacylglycerol 3-phosphate + H(2)O = a 1,2-diacyl-sn-glycerol + phosphate. Mg(2+) (By similarity). Inhibited by N-ethylmaleimide (By similarity). Interacts (via LXXIL motif) with PPARA (By similarity). Interacts with PPARGC1A (By similarity). Interaction with PPARA and PPARGC1A leads to the formation of a complex that modulates gene transcription (By similarity). Interacts with MEF2C (By similarity). Nucleus membrane (By similarity). Cytoplasm, cytosol (By similarity). Endoplasmic reticulum membrane (By similarity). Specifically expressed in skeletal muscle. Also abundant in adipose tissue. Lower levels in some portions of the digestive tract. Contains one Leu-Xaa-Xaa-Ile-Leu (LXXIL), a transcriptional binding motif, which mediates interaction with PPARA (By similarity). Contains 1 Asp-Xaa-Asp-Xaa-Thr (DXDXT) motif, a catalytic motif essential for phosphatidate phosphatase activity (By similarity). Phosphorylated at multiple sites in response to insulin. Phosphorylation is controlled by the mTOR signaling pathway. Phosphorylation is decreased by epinephrine. Phosphorylation may not directly affect the catalytic activity but may regulate the localization. Dephosphorylated by the CTDNEP1-CNEP1R1 complex (By similarity). Sumoylated (By similarity). Defects in LPIN1 are a cause of autosomal recessive acute recurrent myoglobinuria (ARARM) [MIM:268200]; also known as acute recurrent rhabdomyolysis. Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. Onset is usually in early childhood under the age of 5 years. May represent a candidate gene for human lipodysytropy syndromes. Belongs to the lipin family. Sequence=BAA11505.1; Type=Erroneous initiation; transcription coactivator activity nucleus nuclear envelope nucleoplasm cytoplasm mitochondrial outer membrane endoplasmic reticulum endoplasmic reticulum membrane cytosol regulation of transcription from RNA polymerase II promoter lipid metabolic process fatty acid metabolic process triglyceride mobilization phosphatidylethanolamine biosynthetic process phosphatidylcholine biosynthetic process mitotic nuclear envelope disassembly phosphatidate phosphatase activity fatty acid catabolic process membrane dephosphorylation hydrolase activity triglyceride biosynthetic process animal organ regeneration nuclear membrane cellular response to insulin stimulus positive regulation of transcription from RNA polymerase II promoter uc002rbt.1 uc002rbt.2 uc002rbt.3 uc002rbt.4 uc002rbt.5 
ENST00000256722.10 CMPK2 ENST00000256722.10 Homo sapiens cytidine/uridine monophosphate kinase 2 (CMPK2), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_207315) A2RUB0 A5D8T2 B7ZM18 CMPK2_HUMAN ENST00000256722.1 ENST00000256722.2 ENST00000256722.3 ENST00000256722.4 ENST00000256722.5 ENST00000256722.6 ENST00000256722.7 ENST00000256722.8 ENST00000256722.9 NM_207315 Q5EBM0 Q6ZRU2 Q96AL8 uc002qyo.1 uc002qyo.2 uc002qyo.3 uc002qyo.4 uc002qyo.5 uc002qyo.6 This gene encodes one of the enzymes in the nucleotide synthesis salvage pathway that may participate in terminal differentiation of monocytic cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]. May participate in dUTP and dCTP synthesis in mitochondria. Is able to phosphorylate dUMP, dCMP, CMP, UMP and monophosphates of the pyrimidine nucleoside analogs ddC, dFdC, araC, BVDU and FdUrd with ATP as phosphate donor. Efficacy is highest for dUMP followed by dCMP; CMP and UMP are poor substrates. May be involved in mtDNA depletion caused by long term treatment with ddC or other pyrimidine analogs. ATP + (d)CMP = ADP + (d)CDP. Kinetic parameters: KM=3.09 mM for CMP; KM=6.3 mM for UMP; KM=1.31 mM for dCMP; KM=0.1 mM for dUMP; Vmax=1.64 umol/min/mg enzyme towards CMP; Vmax=0.19 umol/min/mg enzyme towards UMP; Vmax=1.77 umol/min/mg enzyme towards dCMP; Vmax=0.48 umol/min/mg enzyme towards dUMP; Mitochondrion. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q5EBM0-1; Sequence=Displayed; Name=2; IsoId=Q5EBM0-2; Sequence=VSP_033238, VSP_033239; Note=No experimental confirmation available; Name=3; IsoId=Q5EBM0-3; Sequence=VSP_033240; Note=No experimental confirmation available; Name=4; IsoId=Q5EBM0-4; Sequence=VSP_033241; Note=No experimental confirmation available; Among all investigated tumors, leukemia cells show the most abundant expression. Belongs to the thymidylate kinase family. nucleotide binding cytidylate kinase activity nucleoside diphosphate kinase activity thymidylate kinase activity ATP binding cytoplasm mitochondrion nucleoside diphosphate phosphorylation pyrimidine nucleotide biosynthetic process dUDP biosynthetic process dTDP biosynthetic process dTTP biosynthetic process uridylate kinase activity nucleoside triphosphate biosynthetic process kinase activity phosphorylation transferase activity UMP kinase activity nucleoside monophosphate phosphorylation nucleoside phosphate kinase activity cellular response to lipopolysaccharide uc002qyo.1 uc002qyo.2 uc002qyo.3 uc002qyo.4 uc002qyo.5 uc002qyo.6 
ENST00000256733.9 SAA2 ENST00000256733.9 Homo sapiens serum amyloid A2 (SAA2), transcript variant 1, mRNA. (from RefSeq NM_030754) ENST00000256733.1 ENST00000256733.2 ENST00000256733.3 ENST00000256733.4 ENST00000256733.5 ENST00000256733.6 ENST00000256733.7 ENST00000256733.8 NM_030754 P02735 P02736 P02737 P0DJI9 Q16730 Q16834 Q16835 Q16879 Q3KRB3 Q6FG67 Q96QN0 Q9UCK9 Q9UCL0 SAA2_HUMAN uc001mnz.1 uc001mnz.2 uc001mnz.3 uc001mnz.4 uc001mnz.5 uc001mnz.6 Major acute phase reactant. Apolipoprotein of the HDL complex. Secreted. Expressed by the liver; secreted in plasma. Upon cytokine stimulation. This protein is the precursor of amyloid protein A, which is formed by the removal of approximately 24 residues from the C- terminal end. At least 2 different SAA2 alleles have been described: SAA2.1 (SAA2alpha) and SAA2.2 (SAA2beta). We use here the revised nomenclature described in PubMed:10211414. The sequence shown is that of SAA2.2. Note=Reactive, secondary amyloidosis is characterized by the extracellular accumulation in various tissues of the SAA2 protein. These deposits are highly insoluble and resistant to proteolysis; they disrupt tissue structure and compromise function. Belongs to the SAA family. extracellular region extracellular space acute-phase response high-density lipoprotein particle chemoattractant activity positive chemotaxis cell chemotaxis extracellular exosome uc001mnz.1 uc001mnz.2 uc001mnz.3 uc001mnz.4 uc001mnz.5 uc001mnz.6 
ENST00000256737.8 ANO3 ENST00000256737.8 Homo sapiens anoctamin 3 (ANO3), transcript variant 2, mRNA. (from RefSeq NM_031418) ANO3_HUMAN C11orf25 ENST00000256737.1 ENST00000256737.2 ENST00000256737.3 ENST00000256737.4 ENST00000256737.5 ENST00000256737.6 ENST00000256737.7 GENX-3947 NM_031418 Q9BYT9 TMEM16C uc001mqt.1 uc001mqt.2 uc001mqt.3 uc001mqt.4 uc001mqt.5 uc001mqt.6 The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]. May act as a calcium-activated chloride channel. Membrane; Multi-pass membrane protein (Potential). Belongs to the anoctamin family. plasma membrane lipid transport membrane integral component of membrane detection of temperature stimulus phospholipid scramblase activity ion transmembrane transport protein dimerization activity detection of mechanical stimulus calcium activated phospholipid scrambling calcium activated phosphatidylcholine scrambling calcium activated galactosylceramide scrambling intracellular calcium activated chloride channel activity uc001mqt.1 uc001mqt.2 uc001mqt.3 uc001mqt.4 uc001mqt.5 uc001mqt.6 
ENST00000256785.5 CFHR5 ENST00000256785.5 Homo sapiens complement factor H related 5 (CFHR5), mRNA. (from RefSeq NM_030787) CFHL5 ENST00000256785.1 ENST00000256785.2 ENST00000256785.3 ENST00000256785.4 FHR5 FHR5_HUMAN NM_030787 Q2NKK2 Q9BXR6 uc001gts.1 uc001gts.2 uc001gts.3 uc001gts.4 uc001gts.5 uc001gts.6 This gene is a member of a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of complement activation. The protein encoded by this gene has nine SCRs with the first two repeats having heparin binding properties, a region within repeats 5-7 having heparin binding and C reactive protein binding properties, and the C-terminal repeats being similar to a complement component 3 b (C3b) binding domain. This protein co-localizes with C3, binds C3b in a dose-dependent manner, and is recruited to tissues damaged by C-reactive protein. Allelic variations in this gene have been associated, but not causally linked, with two different forms of kidney disease: membranoproliferative glomerulonephritis type II (MPGNII) and hemolytic uraemic syndrome (HUS). [provided by RefSeq, Jan 2010]. Sequence Note: An in-frame AUG is located 24 codons upstream of the annotated translation start site but is not being annotated as a start site since it is not conserved and is in a weak Kozak sequence context. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF295327.1, BC111773.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: upstream AUG and CDS extension is not conserved MANE Ensembl match :: ENST00000256785.5/ ENSP00000256785.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Involved in complement regulation. Binds C3b in vitro. Secreted. Expressed by the liver and secreted in plasma. Note=Defects in CFHR5 have been found in patients with atypical hemolytic uremic syndrome and may contribute to the disease. Atypical hemolytic uremic syndrome is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. Susceptibility to the development of atypical hemolytic uremic syndrome can be conferred by mutations in various components of or regulatory factors in the complement cascade system. Other genes may play a role in modifying the phenotype. Contains 9 Sushi (CCP/SCR) domains. protein binding extracellular region complement activation, alternative pathway regulation of complement activation negative regulation of protein binding macromolecular complex protein homodimerization activity positive regulation of cytolysis protein heterodimerization activity uc001gts.1 uc001gts.2 uc001gts.3 uc001gts.4 uc001gts.5 uc001gts.6 
ENST00000256797.9 ERN2 ENST00000256797.9 Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), transcript variant 1, mRNA. (from RefSeq NM_033266) ENST00000256797.1 ENST00000256797.2 ENST00000256797.3 ENST00000256797.4 ENST00000256797.5 ENST00000256797.6 ENST00000256797.7 ENST00000256797.8 ERN2_HUMAN IRE2 NM_033266 Q6ZNC0 Q76MJ5 uc284nvp.1 uc284nvp.2 Induces translational repression through 28S ribosomal RNA cleavage in response to ER stress. Pro-apoptotic. Appears to play no role in the unfolded-protein response, unlike closely related proteins. ATP + a protein = ADP + a phosphoprotein. Magnesium. The kinase domain is activated by trans- autophosphorylation. Kinase activity is required for activation of the endoribonuclease domain (By similarity). Endoplasmic reticulum membrane; Single-pass type I membrane protein. Autophosphorylated. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. Contains 1 KEN domain. Contains 1 protein kinase domain. Sequence=BAD18455.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; nucleotide binding magnesium ion binding catalytic activity endonuclease activity endoribonuclease activity ribonuclease activity protein kinase activity protein serine/threonine kinase activity ATP binding endoplasmic reticulum endoplasmic reticulum membrane regulation of transcription, DNA-templated mRNA processing protein phosphorylation apoptotic process cell cycle arrest activation of JUN kinase activity metabolic process membrane integral component of membrane rRNA catabolic process kinase activity phosphorylation transferase activity hydrolase activity apoptotic chromosome condensation endoplasmic reticulum unfolded protein response response to endoplasmic reticulum stress IRE1-mediated unfolded protein response negative regulation of transcription, DNA-templated metal ion binding unfolded protein binding intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress nucleic acid phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis, endonucleolytic IRE1-TRAF2-ASK1 complex uc284nvp.1 uc284nvp.2 
ENST00000256854.10 NARS1 ENST00000256854.10 Homo sapiens asparaginyl-tRNA synthetase 1 (NARS1), mRNA. (from RefSeq NM_004539) ENST00000256854.1 ENST00000256854.2 ENST00000256854.3 ENST00000256854.4 ENST00000256854.5 ENST00000256854.6 ENST00000256854.7 ENST00000256854.8 ENST00000256854.9 NARS NM_004539 O43776 Q53GU6 SYNC_HUMAN uc002lgs.1 uc002lgs.2 uc002lgs.3 uc002lgs.4 uc002lgs.5 Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Asparaginyl-tRNA synthetase is localized to the cytoplasm and belongs to the class II family of tRNA synthetases. The N-terminal domain represents the signature sequence for the eukaryotic asparaginyl-tRNA synthetases. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.318329.1, SRR1803611.274815.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000256854.10/ ENSP00000256854.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## ATP + L-asparagine + tRNA(Asn) = AMP + diphosphate + L-asparaginyl-tRNA(Asn). Cytoplasm. Belongs to the class-II aminoacyl-tRNA synthetase family. nucleotide binding nucleic acid binding aminoacyl-tRNA ligase activity asparagine-tRNA ligase activity ATP binding cytoplasm cytosol translation tRNA aminoacylation for protein translation asparaginyl-tRNA aminoacylation ligase activity extracellular exosome uc002lgs.1 uc002lgs.2 uc002lgs.3 uc002lgs.4 uc002lgs.5 
ENST00000256857.7 GRP ENST00000256857.7 Homo sapiens gastrin releasing peptide (GRP), transcript variant 1, mRNA. (from RefSeq NM_002091) ENST00000256857.1 ENST00000256857.2 ENST00000256857.3 ENST00000256857.4 ENST00000256857.5 ENST00000256857.6 GRP_HUMAN NM_002091 P07491 P07492 P81553 Q14454 Q53YA0 Q9BSY7 uc002lhv.1 uc002lhv.2 uc002lhv.3 uc002lhv.4 uc002lhv.5 This gene encodes a member of the bombesin-like family of gastrin-releasing peptides. The encoded preproprotein is proteolytically processed to generate two peptides, gastrin-releasing peptide and neuromedin-C. These peptides regulate numerous functions of the gastrointestinal and central nervous systems, including release of gastrointestinal hormones, smooth muscle cell contraction, and epithelial cell proliferation. These peptides are also likely to play a role in human cancers of the lung, colon, stomach, pancreas, breast, and prostate. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]. GRP stimulates gastrin release as well as other gastrointestinal hormones. Operates as a negative feedback regulating fear and established a causal relationship between GRP- receptor gene expression, long-term potentiation, and amygdala- dependent memory for fear (By similarity). Secreted. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P07492-1; Sequence=Displayed; Name=2; IsoId=P07492-2; Sequence=VSP_000549; Name=3; IsoId=P07492-3; Sequence=VSP_000550; Belongs to the bombesin/neuromedin-B/ranatensin family. Sequence=AAA52612.1; Type=Erroneous gene model prediction; Name=Wikipedia; Note=Gastrin-releasing peptide entry; URL="http://en.wikipedia.org/wiki/Gastrin_releasing_peptide"; receptor binding neuropeptide hormone activity extracellular region extracellular space signal transduction G-protein coupled receptor signaling pathway neuropeptide signaling pathway cytoplasmic vesicle secretory granule lumen social behavior psychomotor behavior response to external biotic stimulus positive regulation of peptide hormone secretion positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway uc002lhv.1 uc002lhv.2 uc002lhv.3 uc002lhv.4 uc002lhv.5 
ENST00000256897.9 CCNH ENST00000256897.9 Homo sapiens cyclin H (CCNH), transcript variant 4, mRNA. (from RefSeq NM_001364075) CCNH_HUMAN ENST00000256897.1 ENST00000256897.2 ENST00000256897.3 ENST00000256897.4 ENST00000256897.5 ENST00000256897.6 ENST00000256897.7 ENST00000256897.8 NM_001364075 P51946 Q53X72 Q8TBL9 uc003kjb.1 uc003kjb.2 uc003kjb.3 uc003kjb.4 uc003kjb.5 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK7 kinase and ring finger protein MAT1. The kinase complex is able to phosphorylate CDK2 and CDC2 kinases, thus functions as a CDK-activating kinase (CAK). This cyclin and its kinase partner are components of TFIIH, as well as RNA polymerase II protein complexes. They participate in two different transcriptional regulation processes, suggesting an important link between basal transcription control and the cell cycle machinery. A pseudogene of this gene is found on chromosome 4. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Nov 2010]. Regulates CDK7, the catalytic subunit of the CDK- activating kinase (CAK) enzymatic complex. CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminus domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Involved in cell cycle control and in RNA transcription by RNA polymerase II. Its expression and activity are constant throughout the cell cycle. Associates primarily with CDK7 and MAT1 to form the CAK complex. CAK can further associate with the core-TFIIH to form the TFIIH basal transcription factor. P24941:CDK2; NbExp=2; IntAct=EBI-741406, EBI-375096; P56545:CTBP2; NbExp=5; IntAct=EBI-741406, EBI-741533; Nucleus. Belongs to the cyclin family. Cyclin C subfamily. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ccnh/"; regulation of cyclin-dependent protein serine/threonine kinase activity G1/S transition of mitotic cell cycle G2/M transition of mitotic cell cycle protein binding nucleus nucleoplasm holo TFIIH complex transcription-coupled nucleotide-excision repair nucleotide-excision repair, preincision complex assembly transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription initiation from RNA polymerase I promoter transcription elongation from RNA polymerase I promoter termination of RNA polymerase I transcription transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter transcription elongation from RNA polymerase II promoter 7-methylguanosine mRNA capping protein phosphorylation cell cycle cyclin-dependent protein serine/threonine kinase regulator activity cyclin-dependent protein kinase activating kinase holoenzyme complex positive regulation of transcription from RNA polymerase II promoter protein stabilization TFIIK complex DNA-dependent ATPase activity RNA polymerase II carboxy-terminal domain kinase activity uc003kjb.1 uc003kjb.2 uc003kjb.3 uc003kjb.4 uc003kjb.5 
ENST00000256906.5 HRH4 ENST00000256906.5 Homo sapiens histamine receptor H4 (HRH4), transcript variant 1, mRNA. (from RefSeq NM_021624) B0YJ19 B2KJ48 ENST00000256906.1 ENST00000256906.2 ENST00000256906.3 ENST00000256906.4 GPCR105 HRH4_HUMAN NM_021624 Q4G0I6 Q9GZQ0 Q9H3N8 uc002kvi.1 uc002kvi.2 uc002kvi.3 uc002kvi.4 Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by a family of histamine receptors, which are a subset of the G-protein coupled receptor superfamily. This gene encodes a histamine receptor that is predominantly expressed in haematopoietic cells. The protein is thought to play a role in inflammation and allergy reponses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]. The H4 subclass of histamine receptors could mediate the histamine signals in peripheral tissues. Displays a significant level of constitutive activity (spontaneous activity in the absence of agonist). Cell membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H3N8-1; Sequence=Displayed; Name=2; IsoId=Q9H3N8-2; Sequence=VSP_042737; Note=No experimental confirmation available; Expressed primarily in the bone marrow and eosinophils. Shows preferential distribution in cells of immunological relevance such as T-cells, dendritic cells, monocytes, mast cells, neutrophils. Also expressed in a wide variety of peripheral tissues, including the heart, kidney, liver, lung, pancreas, skeletal muscle, prostate, small intestine, spleen, testis, colon, fetal liver and lymph node. Expression is either up-regulated or down-regulated upon activation of the lymphoid tissues and this regulation may depend on the presence of IL10/interleukin-10 or IL13/interleukin- 13. Does not bind diphenhydramine, loratadine, ranitidine, cimetidine and chlorpheniramine. Shows modest affinity for dimaprit, impromidine, clobenpropit, thioperamide, burimamide clozapine, immepip and imetit. The order of inhibitory activity was imetit > clobenpropit > burimamide > thioperamide. Clobenpropit behaves as a partial agonist, dimaprit and impromidine show some agonist activity while clozapine behaves as a full agonist. Thioperamide shows inverse agonism (enhances cAMP activity). The order of inhibitory activity of histamine derivatives was Histamine > N-alpha-methylhistamine > R(-)-alpha- methylhistamine > S(+)-alpha-methylhistamine. Both N-alpha- methylhistamine > R(-)-alpha-methylhistamine behave as full agonists. Belongs to the G-protein coupled receptor 1 family. G-protein coupled receptor activity histamine receptor activity G-protein coupled serotonin receptor activity plasma membrane integral component of plasma membrane inflammatory response signal transduction G-protein coupled receptor signaling pathway G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway positive regulation of cytosolic calcium ion concentration chemical synaptic transmission biological_process membrane integral component of membrane G-protein coupled acetylcholine receptor activity dendrite neurotransmitter receptor activity regulation of MAPK cascade uc002kvi.1 uc002kvi.2 uc002kvi.3 uc002kvi.4 
ENST00000256925.12 CABLES1 ENST00000256925.12 Homo sapiens Cdk5 and Abl enzyme substrate 1 (CABLES1), transcript variant 2, mRNA. (from RefSeq NM_001100619) CABL1_HUMAN CABLES ENST00000256925.1 ENST00000256925.10 ENST00000256925.11 ENST00000256925.2 ENST00000256925.3 ENST00000256925.4 ENST00000256925.5 ENST00000256925.6 ENST00000256925.7 ENST00000256925.8 ENST00000256925.9 NM_001100619 Q8N3Y8 Q8NA22 Q8TDN4 Q9BTG1 uc002kuc.1 uc002kuc.2 uc002kuc.3 uc002kuc.4 This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal of the cyclin binding domain only in human cancer cells, and reduction in gene expression was shown in colorectal cancers (PMID: 17982127).Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. Cyclin-dependent kinase binding protein. Enhances cyclin-dependent kinase tyrosine phosphorylation by nonreceptor tyrosine kinases, such as that of CDK5 by activated ABL1, which leads to increased CDK5 activity and is critical for neuronal development, and that of CDK2 by WEE1, which leads to decreased CDK2 activity and growth inhibition. Positively affects neuronal outgrowth. Plays a role as a regulator for p53/p73-induced cell death (By similarity). Found in a complex with p53/TP53. Found in a number of complexes with CDK2, CDK3, CDK5, ABL1, TDRD7, CDK17, CCNA1, CCNE1 and TP73. Interacts with CDK2, CDK3, CDK5, ABL1 and TDRD7 (By similarity). Nucleus (By similarity). Cytoplasm (By similarity). Note=Located in the cell body and proximal region of the developing axonal shaft of immature neurons. Located in axonal growth cone, but not in the distal part of the axon shaft or in dendritic growth cone of mature neurons (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8TDN4-1; Sequence=Displayed; Note=No experimental confirmation available; Name=2; IsoId=Q8TDN4-2; Sequence=VSP_012696, VSP_012697; Name=3; IsoId=Q8TDN4-3; Sequence=VSP_012695; Expressed in breast, pancreas, colon, head and neck (at protein level). Strongly decreased in more than half of cases of atypical endometrial hyperplasia and in more than 90% of endometrial cancers. Expression in the endometrial epithelium fluctuates during the menstrual cycle, being greater during the secretory phase when compared with the proliferative phase. Up-regulated by progesterone and down-regulated by estrogen in benign endometrium. Phosphorylated on Ser-313 by CCNE1/CDK3. Phosphorylated on serine/threonine residues by CDK5 and on tyrosine residues by ABL1. Also phosphorylated in vitro by CCNA1/CDK2, CCNE1/CDK2, CCNA1/CDK3 and CCNE1/CDK3 (By similarity). Belongs to the cyclin family. protein binding nucleus cytoplasm cytosol cell cycle cell division regulation of cell cycle uc002kuc.1 uc002kuc.2 uc002kuc.3 uc002kuc.4 
ENST00000256951.10 EMP1 ENST00000256951.10 Homo sapiens epithelial membrane protein 1 (EMP1), mRNA. (from RefSeq NM_001423) B2R5N1 B4B EMP1_HUMAN ENST00000256951.1 ENST00000256951.2 ENST00000256951.3 ENST00000256951.4 ENST00000256951.5 ENST00000256951.6 ENST00000256951.7 ENST00000256951.8 ENST00000256951.9 NM_001423 O00681 P54849 Q13481 Q13834 TMP uc001rbr.1 uc001rbr.2 uc001rbr.3 uc001rbr.4 uc001rbr.5 Membrane; Multi-pass membrane protein. Belongs to the PMP-22/EMP/MP20 family. protein binding plasma membrane cell death epidermis development membrane integral component of membrane bleb assembly uc001rbr.1 uc001rbr.2 uc001rbr.3 uc001rbr.4 uc001rbr.5 
ENST00000256953.6 RERG ENST00000256953.6 Homo sapiens RAS like estrogen regulated growth inhibitor (RERG), transcript variant 1, mRNA. (from RefSeq NM_032918) B2R9R0 B4DI02 ENST00000256953.1 ENST00000256953.2 ENST00000256953.3 ENST00000256953.4 ENST00000256953.5 NM_032918 Q96A58 RERG_HUMAN uc001rct.1 uc001rct.2 uc001rct.3 uc001rct.4 RERG, a member of the RAS superfamily of GTPases, inhibits cell proliferation and tumor formation (Finlin et al., 2001 [PubMed 11533059]).[supplied by OMIM, Mar 2009]. Binds GDP/GTP and possesses intrinsic GTPase activity. Has higher affinity for GDP than for GTP. In cell lines overexpression leads to a reduction in the rate of proliferation, colony formation and in tumorigenic potential. Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96A58-1; Sequence=Displayed; Name=2; IsoId=Q96A58-2; Sequence=VSP_043393; Note=No experimental confirmation available; Detected in heart, brain, placenta, lung, liver, skin, kidney and pancreas. Detected in estrogen receptor- positive breast-derived cell lines, but not in estrogen receptor- negative cell lines. Expression is decreased or lost in a significant proportion of primary breast tumors with poor clinical prognosis. Up-regulated by estradiol. Down-regulated by tamoxifen. Belongs to the small GTPase superfamily. Ras family. nucleotide binding GTPase activity GTP binding nucleus cytoplasm cytosol plasma membrane signal transduction small GTPase mediated signal transduction Ras protein signal transduction negative regulation of cell proliferation response to hormone membrane GDP binding negative regulation of cell growth estrogen receptor binding uc001rct.1 uc001rct.2 uc001rct.3 uc001rct.4 
ENST00000256958.3 SLCO1B1 ENST00000256958.3 Homo sapiens solute carrier organic anion transporter family member 1B1 (SLCO1B1), mRNA. (from RefSeq NM_006446) B2R7G2 ENST00000256958.1 ENST00000256958.2 LST1 NM_006446 OATP1B1 OATP2 OATPC Q29R64 Q9NQ37 Q9UBF3 Q9UH89 Q9Y6L6 SLC21A6 SO1B1_HUMAN uc001req.1 uc001req.2 uc001req.3 uc001req.4 uc001req.5 uc001req.6 This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function. [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 :: AF205071.2, SRR5189664.74711.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145122, SAMEA2155590 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000256958.3/ ENSP00000256958.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Mediates the Na(+)-independent uptake of organic anions such as pravastatin, taurocholate, methotrexate, dehydroepiandrosterone sulfate, 17-beta-glucuronosyl estradiol, estrone sulfate, prostaglandin E2, thromboxane B2, leukotriene C3, leukotriene E4, thyroxine and triiodothyronine. Involved in the clearance of bile acids and organic anions from the liver. Basolateral cell membrane; Multi-pass membrane protein. Note=Detected in basolateral membranes of hepatocytes. Highly expressed in liver, at the basolateral membranes of centrilobular hepatocytes. Not detected in heart, brain, placenta, lung, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and leukocyte. Defects in SLCO1B1 are a cause of hyperbilirubinemia, Rotor type (HBLRR) [MIM:237450]. An autosomal recessive form of primary conjugated hyperbilirubinemia. Affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. They have delayed plasma clearance of the unconjugated anionic dye bromsulphthalein and prominent urinary excretion of coproporphyrin I. Hepatic pigmentation is normal. Belongs to the organo anion transporter (TC 2.A.60) family. Contains 1 Kazal-like domain. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/slco1b1/"; plasma membrane integral component of plasma membrane ion transport bile acid transmembrane transporter activity sodium-independent organic anion transmembrane transporter activity organic anion transport bile acid and bile salt transport membrane integral component of membrane basolateral plasma membrane sodium-independent organic anion transport transmembrane transport uc001req.1 uc001req.2 uc001req.3 uc001req.4 uc001req.5 uc001req.6 
ENST00000256969.7 SPX ENST00000256969.7 Homo sapiens spexin hormone (SPX), transcript variant 1, mRNA. (from RefSeq NM_030572) B3KND6 C12orf39 ENST00000256969.1 ENST00000256969.2 ENST00000256969.3 ENST00000256969.4 ENST00000256969.5 ENST00000256969.6 NM_030572 Q9BT56 SPXN_HUMAN uc001rfa.1 uc001rfa.2 uc001rfa.3 The protein encoded by this gene is a hormone involved in modulation of cardiovascular and renal function. It has also been shown in rats to cause weight loss. Several transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]. Induces contraction of stomach muscle. Secreted. Cytoplasmic vesicle, secretory vesicle. Expressed in submucosal layer of esophagus and stomach fundus. Expressed in brain, pancreas and kidney. positive regulation of systemic arterial blood pressure hormone activity neuropeptide hormone activity extracellular region extracellular space cytoplasm signal transduction negative regulation of heart rate transport vesicle dense core granule cytoplasmic vesicle type 2 galanin receptor binding type 3 galanin receptor binding negative regulation of appetite negative regulation of renal sodium excretion long-chain fatty acid import positive regulation of transcription from RNA polymerase II promoter regulation of sensory perception of pain positive regulation of gastro-intestinal system smooth muscle contraction uc001rfa.1 uc001rfa.2 uc001rfa.3 
ENST00000256996.9 DDB2 ENST00000256996.9 Homo sapiens damage specific DNA binding protein 2 (DDB2), transcript variant WT, mRNA. (from RefSeq NM_000107) B2R875 DDB2_HUMAN ENST00000256996.1 ENST00000256996.2 ENST00000256996.3 ENST00000256996.4 ENST00000256996.5 ENST00000256996.6 ENST00000256996.7 ENST00000256996.8 NM_000107 Q76E54 Q76E55 Q76E56 Q76E57 Q92466 uc001neb.1 uc001neb.2 uc001neb.3 uc001neb.4 This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]. Required for DNA repair. Binds to DDB1 to form the UV- damaged DNA-binding protein complex (the UV-DDB complex). The UV- DDB complex may recognize UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair. The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches. Also appears to function as the substrate recognition module for the DCX (DDB1- CUL4-X-box) E3 ubiquitin-protein ligase complex DDB1-CUL4-ROC1 (also known as CUL4-DDB-ROC1 and CUL4-DDB-RBX1). The DDB1-CUL4- ROC1 complex may ubiquitinate histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage. The ubiquitination of histones may facilitate their removal from the nucleosome and promote subsequent DNA repair. The DDB1-CUL4-ROC1 complex also ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER. Isoform D1 and isoform D2 inhibit UV-damaged DNA repair. Protein modification; protein ubiquitination. Component of the UV-DDB complex which includes DDB1 and DDB2. The UV-DDB complex interacts with monoubiquitinated histone H2A and binds to XPC via the DDB2 subunit. Component of the DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex DDB1-CUL4- ROC1 (also known as CUL4-DDB-ROC1 and CUL4-DDB-RBX1), which includes CUL4A or CUL4B, DDB1, DDB2 and RBX1. DDB2 may function as the substrate recognition module within this complex. The DDB1- CUL4-ROC1 complex may associate with the COP9 signalosome, and this inhibits the E3 ubiquitin-protein ligase activity of the complex. A large number of other DCX complexes may also exist in which an alternate substrate targeting subunit replaces DDB2. These targeting subunits are generally known as DCAF (DDB1- and CUL4-associated factor) or CDW (CUL4-DDB1-associated WD40-repeat) proteins. Isoform D1 and isoform D2 do not interact with DDB1. Q13619:CUL4A; NbExp=2; IntAct=EBI-1176171, EBI-456106; Q16531:DDB1; NbExp=3; IntAct=EBI-1176171, EBI-350322; Q01094:E2F1; NbExp=2; IntAct=EBI-1176171, EBI-448924; Nucleus. Note=Accumulates at sites of DNA damage following UV irradiation. Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q92466-1; Sequence=Displayed; Name=D1; IsoId=Q92466-2; Sequence=VSP_014675; Name=D2; IsoId=Q92466-3; Sequence=VSP_014676, VSP_014677; Name=D3; IsoId=Q92466-4; Sequence=VSP_014674; Name=D4; IsoId=Q92466-5; Sequence=VSP_014678, VSP_014679; Ubiquitously expressed; with highest levels in corneal endothelium and lowest levels in brain. Isoform D1 is highly expressed in brain and heart. Isoform D2, isoform D3 and isoform D4 are weakly expressed. Expression is induced in response to treatment with IR or UV and this requires p53/TP53 activity. The DWD box is required for interaction with DDB1. Phosphorylation by ABL1 negatively regulate UV-DDB activity (By similarity). Ubiquitinated by CUL4A in response to UV irradiation. Ubiquitination appears to both impair DNA-binding and promotes ubiquitin-dependent proteolysis. Degradation of DDB2 at sites of DNA damage may be a prerequisite for their recognition by XPC and subsequent repair. CUL4A-mediated degradation appears to be promoted by ABL1. Defects in DDB2 are a cause of xeroderma pigmentosum complementation group E (XP-E) [MIM:278740]; also known as xeroderma pigmentosum V (XP5). XP-E is a rare human autosomal recessive disease characterized by solar sensitivity, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. Belongs to the WD repeat DDB2/WDR76 family. Contains 5 WD repeats. Name=Allelic variations of the XP genes; URL="http://www.xpmutations.org/"; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/XPEID298.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DDB2"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ddb2/"; protein polyubiquitination nucleotide-excision repair, DNA damage recognition nucleotide-excision repair, DNA duplex unwinding DNA binding damaged DNA binding protein binding nucleus nucleoplasm DNA repair nucleotide-excision repair pyrimidine dimer 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 cellular response to DNA damage stimulus response to UV protein ubiquitination protein deubiquitination cell junction Cul4B-RING E3 ubiquitin ligase complex macromolecular complex nucleotide-excision repair, DNA incision histone H2A monoubiquitination post-translational protein modification macromolecular complex binding protein autoubiquitination global genome nucleotide-excision repair UV-damage excision repair Cul4-RING E3 ubiquitin ligase complex ubiquitin-protein transferase activity uc001neb.1 uc001neb.2 uc001neb.3 uc001neb.4 
ENST00000256997.9 ACP2 ENST00000256997.9 A phosphate monoester + H(2)O = an alcohol + phosphate. (from UniProt P11117) BC093010 ENST00000256997.1 ENST00000256997.2 ENST00000256997.3 ENST00000256997.4 ENST00000256997.5 ENST00000256997.6 ENST00000256997.7 ENST00000256997.8 P11117 PPAL_HUMAN Q561W5 Q9BTU7 uc001nei.1 uc001nei.2 uc001nei.3 uc001nei.4 A phosphate monoester + H(2)O = an alcohol + phosphate. Lysosome membrane; Single-pass membrane protein; Lumenal side. Lysosome lumen. Note=The soluble form arises by proteolytic processing of the membrane-bound form. The membrane-bound form is converted to the soluble form by sequential proteolytic processing. First, the C-terminal cytoplasmic tail is removed. Cleavage by a lysosomal protease releases the soluble form in the lysosome lumen. N-glycosylated. The intermediates formed during enzymatic deglycosylation suggest that all eight predicted N-glycosylation sites are used. Defects in ACP2 are a cause of acid phosphatase deficiency (ACPHD) [MIM:200950]. The clinical features are intermittent vomiting, hypotonia, lethargy, opisthotonos, terminal bleeding, and death in early infancy. Lysosomal acid phosphatase is deficient in cultured fibroblasts and multiple tissues. Belongs to the histidine acid phosphatase family. skeletal system development acid phosphatase activity lysosome lysosomal membrane lysosome organization membrane integral component of membrane dephosphorylation hydrolase activity lysosomal lumen extracellular exosome uc001nei.1 uc001nei.2 uc001nei.3 uc001nei.4 
ENST00000256999.7 FOLH1 ENST00000256999.7 Homo sapiens folate hydrolase 1 (FOLH1), transcript variant 1, mRNA. (from RefSeq NM_004476) A4UU12 A9CB79 B7Z312 B7Z343 D3DQS5 E9PDX8 ENST00000256999.1 ENST00000256999.2 ENST00000256999.3 ENST00000256999.4 ENST00000256999.5 ENST00000256999.6 FOLH FOLH1_HUMAN GIG27 NAALAD1 NM_004476 O43748 PSM PSMA Q04609 Q16305 Q541A4 Q8TAY3 Q9NP15 Q9NYE2 Q9P1P8 uc001ngy.1 uc001ngy.2 uc001ngy.3 uc001ngy.4 This gene encodes a type II transmembrane glycoprotein belonging to the M28 peptidase family. The protein acts as a glutamate carboxypeptidase on different alternative substrates, including the nutrient folate and the neuropeptide N-acetyl-l-aspartyl-l-glutamate and is expressed in a number of tissues such as prostate, central and peripheral nervous system and kidney. A mutation in this gene may be associated with impaired intestinal absorption of dietary folates, resulting in low blood folate levels and consequent hyperhomocysteinemia. Expression of this protein in the brain may be involved in a number of pathological conditions associated with glutamate excitotoxicity. In the prostate the protein is up-regulated in cancerous cells and is used as an effective diagnostic and prognostic indicator of prostate cancer. This gene likely arose from a duplication event of a nearby chromosomal region. Alternative splicing gives rise to multiple transcript variants encoding several different isoforms. [provided by RefSeq, Jul 2010]. Has both folate hydrolase and N-acetylated-alpha-linked- acidic dipeptidase (NAALADase) activity. Has a preference for tri- alpha-glutamate peptides. In the intestine, required for the uptake of folate. In the brain, modulates excitatory neurotransmission through the hydrolysis of the neuropeptide, N- aceylaspartylglutamate (NAAG), thereby releasing glutamate. Isoform PSM-4 and isoform PSM-5 would appear to be physiologically irrelevant. Involved in prostate tumor progression. Also exhibits a dipeptidyl-peptidase IV type activity. In vitro, cleaves Gly-Pro-AMC. Release of an unsubstituted, C-terminal glutamyl residue, typically from Ac-Asp-Glu or folylpoly-gamma- glutamates. Binds 2 zinc ions per subunit. Required for NAALADase activity. The NAALADase activity is inhibited by beta- NAAG, quisqualic acid, 2-(phosphonomethyl) pentanedioic acid (PMPA) and EDTA. Activated by cobalt. pH dependence: Stable at pH greater than 6.5; Homodimer. Cell membrane; Single-pass type II membrane protein. Isoform PSMA': Cytoplasm. Event=Alternative splicing; Named isoforms=8; Name=PSMA-1; IsoId=Q04609-1; Sequence=Displayed; Note=No experimental confirmation available; Name=PSMA-3; IsoId=Q04609-3; Sequence=VSP_040242, VSP_040245; Note=No experimental confirmation available. Incomplete sequence; Name=PSMA-4; IsoId=Q04609-4; Sequence=VSP_040241, VSP_040243, VSP_040244; Note=No experimental confirmation available. Incomplete sequence; Name=PSMA'; IsoId=Q04609-6; Sequence=VSP_005336; Name=PSMA-7; IsoId=Q04609-7; Sequence=VSP_038058; Name=PSMA-8; IsoId=Q04609-8; Sequence=VSP_038059; Name=PSMA-9; Synonyms=PSM-E; IsoId=Q04609-9; Sequence=VSP_038058, VSP_038059; Name=10; IsoId=Q04609-10; Sequence=VSP_044287; Highly expressed in prostate epithelium. Detected in urinary bladder, kidney, testis, ovary, fallopian tube, breast, adrenal gland, liver, esophagus, stomach, small intestine, colon and brain (at protein level). Detected in the small intestine, brain, kidney, liver, spleen, colon, trachea, spinal cord and the capillary endothelium of a variety of tumors. Expressed specifically in jejunum brush border membranes. In the brain, highly expressed in the ventral striatum and brain stem. Also expressed in fetal liver and kidney. Isoform PSMA' is the most abundant form in normal prostate. Isoform PSMA-1 is the most abundant form in primary prostate tumors. Isoform PSMA-2 is also found in normal prostate as well as in brain and liver. Isoform PSMA-9 is specifically expressed in prostate cancer. In the prostate, up-regulated in response to androgen deprivation. The NAALADase activity is found in the central region, the dipeptidyl peptidase IV type activity in the C-terminal. The first two amino acids at the N-terminus of isoform PSMA' appear to be cleaved by limited proteolysis. The N-terminus is blocked. Genetic variation in FOLH1 may be associated with low folate levels and consequent hyperhomocysteinemia. This condition can result in increased risk of cardiovascular disease, neural tube defects, and cognitive deficits. PSMA is used as a diagnostic and prognostic indicator of prostate cancer, and as a possible marker for various neurological disorders such as schizophrenia, Alzheimer disease and Huntington disease. Belongs to the peptidase M28 family. M28B subfamily. Sequence=AAF31167.1; Type=Erroneous gene model prediction; catalytic activity carboxypeptidase activity metallocarboxypeptidase activity cytoplasm plasma membrane integral component of plasma membrane proteolysis folic acid-containing compound metabolic process metabolic process peptidase activity metallopeptidase activity cellular amino acid biosynthetic process cell surface membrane integral component of membrane hydrolase activity dipeptidase activity C-terminal protein deglutamylation metal ion binding extracellular exosome Ac-Asp-Glu binding tetrahydrofolyl-poly(glutamate) polymer binding uc001ngy.1 uc001ngy.2 uc001ngy.3 uc001ngy.4 
ENST00000257013.9 RTL8C ENST00000257013.9 Homo sapiens retrotransposon Gag like 8C (RTL8C), mRNA. (from RefSeq NM_001078171) A6ZKI3 CXX1 ENST00000257013.1 ENST00000257013.2 ENST00000257013.3 ENST00000257013.4 ENST00000257013.5 ENST00000257013.6 ENST00000257013.7 ENST00000257013.8 F127A_HUMAN FAM127A MAR8 MAR8C MART8 NM_001078171 uc004eyd.1 uc004eyd.2 uc004eyd.3 uc004eyd.4 uc004eyd.5 Belongs to the FAM127 family. There seems to be two proteins that can be transcribed from FAM127A, one with a C-terminal CAAX box (AC O15255) and a smaller protein (the sequence shown here) that seems to be encoded by a multicopy gene originating from a retrotransposon. protein binding uc004eyd.1 uc004eyd.2 uc004eyd.3 uc004eyd.4 uc004eyd.5 
ENST00000257017.5 RAB33A ENST00000257017.5 Homo sapiens RAB33A, member RAS oncogene family (RAB33A), mRNA. (from RefSeq NM_004794) ENST00000257017.1 ENST00000257017.2 ENST00000257017.3 ENST00000257017.4 NM_004794 Q14088 Q5JUZ6 Q92465 RABS10 RB33A_HUMAN uc004evl.1 uc004evl.2 uc004evl.3 uc004evl.4 uc004evl.5 The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. It is GTP-binding protein and may be involved in vesicle transport. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BC001157.1, D14889.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000257017.5/ ENSP00000257017.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Q9UI14:RABAC1; NbExp=3; IntAct=EBI-744685, EBI-712367; Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Expressed only in lymphoid cell lines. Belongs to the small GTPase superfamily. Rab family. Golgi membrane nucleotide binding GTPase activity protein binding GTP binding plasma membrane intracellular protein transport membrane antigen processing and presentation Rab protein signal transduction uc004evl.1 uc004evl.2 uc004evl.3 uc004evl.4 uc004evl.5 
ENST00000257068.3 MTNR1B ENST00000257068.3 Homo sapiens melatonin receptor 1B (MTNR1B), mRNA. (from RefSeq NM_005959) ENST00000257068.1 ENST00000257068.2 MTR1B_HUMAN NM_005959 P49286 uc001pdk.1 uc001pdk.2 uc001pdk.3 This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This gene product is an integral membrane protein that is a G-protein coupled, 7-transmembrane receptor. It is found primarily in the retina and brain although this detection requires RT-PCR. It is thought to participate in light-dependent functions in the retina and may be involved in the neurobiological effects of melatonin. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC069163.1, U25341.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## High affinity receptor for melatonin. Likely to mediates the reproductive and circadian actions of melatonin. The activity of this receptor is mediated by pertussis toxin sensitive G proteins that inhibit adenylate cyclase activity. Cell membrane; Multi-pass membrane protein. Expressed in retina and less in brain and hippocampus. Belongs to the G-protein coupled receptor 1 family. Name=Wikipedia; Note=Melatonin receptor entry; URL="http://en.wikipedia.org/wiki/Melatonin_receptor"; G-protein coupled receptor activity protein binding plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger chemical synaptic transmission melatonin receptor activity negative regulation of cGMP-mediated signaling membrane integral component of membrane glucose homeostasis positive regulation of circadian rhythm camera-type eye development negative regulation of neuron apoptotic process positive regulation of circadian sleep/wake cycle, non-REM sleep negative regulation of insulin secretion regulation of insulin secretion negative regulation of cytosolic calcium ion concentration negative regulation of transmission of nerve impulse positive regulation of transmission of nerve impulse regulation of neuronal action potential negative regulation of delayed rectifier potassium channel activity uc001pdk.1 uc001pdk.2 uc001pdk.3 
ENST00000257075.9 PUM1 ENST00000257075.9 Homo sapiens pumilio RNA binding family member 1 (PUM1), transcript variant 2, mRNA. (from RefSeq NM_014676) A8K6W4 D3DPN3 ENST00000257075.1 ENST00000257075.2 ENST00000257075.3 ENST00000257075.4 ENST00000257075.5 ENST00000257075.6 ENST00000257075.7 ENST00000257075.8 KIAA0099 NM_014676 PUM1_HUMAN PUMH1 Q14671 Q5VXY7 Q9HAN1 uc001bsi.1 uc001bsi.2 This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA binding domain comprised of eight repeats and N- and C-terminal flanking regions, and serves as a translational regulator of specific mRNAs by binding to their 3' untranslated regions. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the human protein may be involved in translational regulation of embryogenesis, and cell development and differentiation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. Sequence-specific RNA-binding protein that regulates translation and mRNA stability by binding the 3'-UTR of mRNA targets. May be required to support proliferation and self-renewal of stem cells (By similarity). Binds in a sequence-specific manner to the 3'-UTR of some mRNAs. Cytoplasm (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q14671-1; Sequence=Displayed; Name=2; IsoId=Q14671-2; Sequence=VSP_017059, VSP_017060, VSP_017061; Note=No experimental confirmation available; Expressed in brain, heart, kidney, muscle, intestine and stomach. Not expressed in cerebellum, corpus callosum, caudate nucleus, hippocampus, medulla oblongata and putamen. Expressed in all fetal tissues tested. Strongly down-regulated in keratinocytes upon UVB irradiation. The pumilio repeats mediate the association with RNA by packing together to form a right-handed superhelix that approximates a half doughnut. The number as well as the specific sequence of the repeats determine the specificity for target mRNAs. Contains 1 PUM-HD domain. Contains 8 pumilio repeats. Sequence=BAA07895.3; Type=Erroneous initiation; P-body RNA binding mRNA 3'-UTR binding protein binding nucleus nucleoplasm cytoplasm cytosol regulation of translation spermatogenesis adult locomotory behavior cytoplasmic stress granule posttranscriptional regulation of gene expression posttranscriptional gene silencing nuclear speck cell differentiation production of miRNAs involved in gene silencing by miRNA miRNA binding regulation of mRNA stability stem cell differentiation regulation of cell cycle regulation of chromosome segregation regulation of gene silencing by miRNA mRNA destabilization positive regulation of RIG-I signaling pathway positive regulation of gene silencing by miRNA uc001bsi.1 uc001bsi.2 
ENST00000257177.9 TUT4 ENST00000257177.9 Homo sapiens terminal uridylyl transferase 4 (TUT4), transcript variant 1, mRNA. (from RefSeq NM_001009881) A0A0C4DFM7 ENST00000257177.1 ENST00000257177.2 ENST00000257177.3 ENST00000257177.4 ENST00000257177.5 ENST00000257177.6 ENST00000257177.7 ENST00000257177.8 NM_001009881 uc001cty.1 uc001cty.2 uc001cty.3 uc001cty.4 ZCCHC11 is an RNA uridyltransferase (EC 2.7.7.52) that uses UTP to add uridines to the 3-prime end of substrate RNA molecules (Jones et al., 2009 [PubMed 19701194]).[supplied by OMIM, Jan 2011]. uc001cty.1 uc001cty.2 uc001cty.3 uc001cty.4 
ENST00000257181.10 PRPF38A ENST00000257181.10 Homo sapiens pre-mRNA processing factor 38A (PRPF38A), mRNA. (from RefSeq NM_032864) ENST00000257181.1 ENST00000257181.2 ENST00000257181.3 ENST00000257181.4 ENST00000257181.5 ENST00000257181.6 ENST00000257181.7 ENST00000257181.8 ENST00000257181.9 NM_032864 PR38A_HUMAN Q8NAV1 Q96JW1 Q9BVZ8 uc001ctv.1 uc001ctv.2 uc001ctv.3 uc001ctv.4 uc001ctv.5 uc001ctv.6 May be required for pre-mRNA splicing (Potential). Nucleus (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8NAV1-1; Sequence=Displayed; Name=2; IsoId=Q8NAV1-2; Sequence=VSP_025424; Belongs to the PRP38 family. Sequence=BAB55405.1; Type=Erroneous initiation; mRNA splicing, via spliceosome RNA binding protein binding nucleus nucleoplasm spliceosomal complex mRNA processing RNA splicing nuclear membrane U2-type precatalytic spliceosome precatalytic spliceosome uc001ctv.1 uc001ctv.2 uc001ctv.3 uc001ctv.4 uc001ctv.5 uc001ctv.6 
ENST00000257189.5 DSG3 ENST00000257189.5 Homo sapiens desmoglein 3 (DSG3), mRNA. (from RefSeq NM_001944) A8K2V2 CDHF6 DSG3_HUMAN ENST00000257189.1 ENST00000257189.2 ENST00000257189.3 ENST00000257189.4 NM_001944 P32926 uc002kws.1 uc002kws.2 uc002kws.3 uc002kws.4 uc002kws.5 This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. The encoded protein has been identified as the autoantigen of the autoimmune blistering disease pemphigus vulgaris. [provided by RefSeq, Jan 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK290367.1, M76482.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2144335, SAMEA2144835 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000257189.5/ ENSP00000257189.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. Cell membrane; Single-pass type I membrane protein (By similarity). Cell junction, desmosome (By similarity). Epidermis, tongue, tonsil, esophagus and carcinomas. Calcium may be bound by the cadherin-like repeats (Potential). Pemphigus vulgaris (PV) is a potentially lethal skin disease in which epidermal blisters occur as the result of the loss of cell-cell adhesion caused by the action of autoantibodies against desmoglein 3. Contains 4 cadherin domains. cornified envelope calcium ion binding cytosol plasma membrane cell-cell junction cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules membrane integral component of membrane cell junction desmosome keratinization metal ion binding extracellular exosome cornification cell-cell adhesion uc002kws.1 uc002kws.2 uc002kws.3 uc002kws.4 uc002kws.5 
ENST00000257192.5 DSG1 ENST00000257192.5 Homo sapiens desmoglein 1 (DSG1), mRNA. (from RefSeq NM_001942) CDHF4 DSG1_HUMAN ENST00000257192.1 ENST00000257192.2 ENST00000257192.3 ENST00000257192.4 NM_001942 Q02413 uc002kwp.1 uc002kwp.2 uc002kwp.3 uc002kwp.4 uc002kwp.5 This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF097935.1, X56654.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145122, SAMEA2145893 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000257192.5/ ENSP00000257192.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. Binds to JUP/plakoglobin. Cell membrane; Single-pass type I membrane protein (By similarity). Cell junction, desmosome. Epidermis, tongue, tonsil and esophagus. Calcium may be bound by the cadherin-like repeats (Potential). Defects in DSG1 are the cause of palmoplantar keratoderma striate type 1 (SPPK1) [MIM:148700]; also known as keratosis palmoplantaris striata I. SPPK1 is a dermatoligical disorder characterized by thickening of the skin on the palms and soles, and longitudinal hyperkeratotic lesions on the palms, running the length of each finger. Contains 4 cadherin domains. cornified envelope calcium ion binding protein binding cytosol plasma membrane cell-cell junction cell-cell junction assembly cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules cytoplasmic side of plasma membrane toxic substance binding membrane integral component of membrane apical plasma membrane lateral plasma membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules cell junction desmosome keratinization response to progesterone neutrophil degranulation gamma-catenin binding metal ion binding protein stabilization maternal process involved in female pregnancy cornification cell-cell adhesion ficolin-1-rich granule membrane uc002kwp.1 uc002kwp.2 uc002kwp.3 uc002kwp.4 uc002kwp.5 
ENST00000257198.6 DSC1 ENST00000257198.6 Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA. (from RefSeq NM_024421) CDHF1 DSC1_HUMAN ENST00000257198.1 ENST00000257198.2 ENST00000257198.3 ENST00000257198.4 ENST00000257198.5 NM_024421 Q08554 Q9HB01 uc002kwn.1 uc002kwn.2 uc002kwn.3 uc002kwn.4 uc002kwn.5 The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. A subtype of IgA pemphigus, a life-threatening autoimmune disease, is characterized by the presence of autoantibodies that target the encoded protein. The desmosomal family members are arranged in two clusters on chromosome 18. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protein. [provided by RefSeq, Nov 2015]. Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms. Linked to the keratinization of epithelial tissues. Binds to JUP/plakoglobin. Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome. Event=Alternative splicing; Named isoforms=2; Name=1A; Synonyms=DG2; IsoId=Q08554-1; Sequence=Displayed; Name=1B; Synonyms=DG3; IsoId=Q08554-2; Sequence=VSP_000651, VSP_000652; Strongly expressed in epidermis, less in lymph node and tongue. Calcium may be bound by the cadherin-like repeats (Potential). Contains 5 cadherin domains. cornified envelope calcium ion binding plasma membrane cell-cell junction gap junction cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules membrane integral component of membrane cell junction desmosome keratinization neutrophil degranulation metal ion binding extracellular exosome cornification cell-cell adhesion ficolin-1-rich granule membrane uc002kwn.1 uc002kwn.2 uc002kwn.3 uc002kwn.4 uc002kwn.5 
ENST00000257215.10 DAGLA ENST00000257215.10 Homo sapiens diacylglycerol lipase alpha (DAGLA), mRNA. (from RefSeq NM_006133) A7E233 C11orf11 DGLA_HUMAN ENST00000257215.1 ENST00000257215.2 ENST00000257215.3 ENST00000257215.4 ENST00000257215.5 ENST00000257215.6 ENST00000257215.7 ENST00000257215.8 ENST00000257215.9 KIAA0659 NM_006133 NSDDR Q6WQJ0 Q9Y4D2 uc001nsa.1 uc001nsa.2 uc001nsa.3 uc001nsa.4 uc001nsa.5 This gene encodes a diacylglycerol lipase. The encoded enzyme is involved in the biosynthesis of the endocannabinoid 2-arachidonoyl-glycerol.[provided by RefSeq, Nov 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC150176.1, BC152453.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000257215.10/ ENSP00000257215.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Catalyzes the hydrolysis of diacylglycerol (DAG) to 2- arachidonoyl-glycerol (2-AG), the most abundant endocannabinoid in tissues. Required for axonal growth during development and for retrograde synaptic signaling at mature synapses. Calcium. Inhibited by p-hydroxy-mercuri-benzoate and HgCl(2), but not to PMSF. Also inhibited by RHC80267, a drug that blocks 2-AG formation. Kinetic parameters: KM=154.7 uM for diacylglycerol; Vmax=33.3 nmol/min/mg enzyme; pH dependence: Optimum pH is 7.0; Cell membrane; Multi-pass membrane protein. Highly expressed in brain and pancreas. Defects in DAGLA may be a cause of spinocerebellar ataxia type 20 (SCA20) [MIM:608687]. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA20 is an autosomal dominant, adult- onset form characterized by dysarthria due to spasmodic dysphonia followed by slowly progressive ataxia. Note=A copy number variation consisting of a 260-kb duplication at chromosome 11q12.2-12.3 is responsible for SCA20. The critical gene within the duplicated segment may be DAGLA. Belongs to the AB hydrolase superfamily. Lipase family. Sequence=BAA31634.2; Type=Erroneous initiation; plasma membrane lipid metabolic process G-protein coupled glutamate receptor signaling pathway neuroblast proliferation membrane integral component of membrane lipid catabolic process hydrolase activity arachidonic acid metabolic process neurogenesis neurotransmitter biosynthetic process varicosity postsynaptic membrane diacylglycerol catabolic process metal ion binding endocannabinoid signaling pathway retrograde trans-synaptic signaling by endocannabinoid integral component of postsynaptic membrane uc001nsa.1 uc001nsa.2 uc001nsa.3 uc001nsa.4 uc001nsa.5 
ENST00000257245.9 TIMM10 ENST00000257245.9 Homo sapiens translocase of inner mitochondrial membrane 10 (TIMM10), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_012456) A8K136 ENST00000257245.1 ENST00000257245.2 ENST00000257245.3 ENST00000257245.4 ENST00000257245.5 ENST00000257245.6 ENST00000257245.7 ENST00000257245.8 NM_012456 P62072 Q9WV99 Q9WVA0 Q9Y5J8 TIM10 TIM10_HUMAN uc001nkm.1 uc001nkm.2 uc001nkm.3 The mitochondrial protein encoded by this gene belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane, functioning as intermembrane space chaperones for the highly insoluble carrier proteins. [provided by RefSeq, Nov 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.430185.1, SRR5189658.168541.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2149178, SAMEA2150385 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000257245.9/ ENSP00000257245.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Mitochondrial intermembrane chaperone that participates in the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. May also be 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. Heterohexamer; composed of 3 copies of TIMM9 and 3 copies of TIMM10/TIM10A, named soluble 70 kDa complex. The complex forms a 6-bladed alpha-propeller structure and associates with the TIMM22 component of the TIM22 complex. Interacts with multi-pass transmembrane proteins in transit. Also forms a complex composed of TIMM9, TIMM10/TIM10A and FXC1/TIM10B. Q9Y5J7:TIMM9; NbExp=5; IntAct=EBI-1200391, EBI-1200370; 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 TIMM10 from cytoplasm into mitochondrion, the Cys residues probably coordinate zinc, thereby preventing folding and allowing its transfer across mitochondrial outer membrane (Probable). Belongs to the small Tim family. protein binding mitochondrion mitochondrial inner membrane mitochondrial inner membrane presequence translocase complex mitochondrial intermembrane space protein targeting to mitochondrion sensory perception of sound zinc ion binding protein transport membrane mitochondrial intermembrane space protein transporter complex protein homodimerization activity protein import into mitochondrial inner membrane metal ion binding chaperone binding chaperone-mediated protein transport uc001nkm.1 uc001nkm.2 uc001nkm.3 
ENST00000257247.11 AHNAK ENST00000257247.11 Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 2, mRNA. (from RefSeq NM_024060) A1A586 AHNK_HUMAN ENST00000257247.1 ENST00000257247.10 ENST00000257247.2 ENST00000257247.3 ENST00000257247.4 ENST00000257247.5 ENST00000257247.6 ENST00000257247.7 ENST00000257247.8 ENST00000257247.9 NM_024060 PM227 Q09666 uc001ntk.1 uc001ntk.2 uc001ntk.3 The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac calcium channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene. [provided by RefSeq, Oct 2016]. May be required for neuronal cell differentiation. Interacts with DYSF; the interaction is direct and Ca(2+)-independent. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q09666-1; Sequence=Displayed; Name=2; IsoId=Q09666-2; Sequence=VSP_044233, VSP_044234; Contains 1 PDZ (DHR) domain. Sequence=AAA69899.1; Type=Erroneous initiation; Note=Translation N-terminally extended; RNA binding protein binding nucleus cytoplasm lysosomal membrane cytosol plasma membrane focal adhesion actin cytoskeleton membrane T-tubule vesicle sarcolemma costamere regulation of RNA splicing cell-cell contact zone S100 protein binding cadherin binding protein oligomerization extracellular exosome structural molecule activity conferring elasticity regulation of voltage-gated calcium channel activity membrane raft uc001ntk.1 uc001ntk.2 uc001ntk.3 
ENST00000257248.3 CBLIF ENST00000257248.3 Homo sapiens cobalamin binding intrinsic factor (CBLIF), mRNA. (from RefSeq NM_005142) B2RAN8 B4DVZ1 ENST00000257248.1 ENST00000257248.2 GIF IFMH IF_HUMAN NM_005142 P27352 uc001noi.1 uc001noi.2 uc001noi.3 uc001noi.4 uc001noi.5 This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC037958.1, X76562.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2157511 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000257248.3/ ENSP00000257248.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Promotes absorption of the essential vitamin cobalamin (Cbl) in the ileum. After interaction with CUBN, the GIF-cobalamin complex is internalized via receptor-mediated endocytosis. Interacts with CUBN (via CUB domains). Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P27352-1; Sequence=Displayed; Name=2; IsoId=P27352-2; Sequence=VSP_041585; Gastric mucosa. Defects in GIF are the cause of hereditary intrinsic factor deficiency (IFD) [MIM:261000]; also known as congenital pernicious anemia. IFD is an autosomal recessive disorder characterized by megaloblastic anemia. Belongs to the eukaryotic cobalamin transport proteins family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GIF"; Name=Wikipedia; Note=Intrinsic factor entry; URL="http://en.wikipedia.org/wiki/Intrinsic_factor"; extracellular region extracellular space endosome microvillus ion transport cobalt ion transport cobalamin metabolic process cobalamin transport apical plasma membrane cobalamin binding lysosomal lumen uc001noi.1 uc001noi.2 uc001noi.3 uc001noi.4 uc001noi.5 
ENST00000257264.4 TCN1 ENST00000257264.4 Homo sapiens transcobalamin 1 (TCN1), mRNA. (from RefSeq NM_001062) A8KAC5 ENST00000257264.1 ENST00000257264.2 ENST00000257264.3 NM_001062 P20061 Q8WV77 TC1 TCO1_HUMAN uc001noj.1 uc001noj.2 uc001noj.3 uc001noj.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 protein is a major constituent of secondary granules in neutrophils and facilitates the transport of cobalamin into 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 :: BC018632.1, J05068.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000257264.4/ ENSP00000257264.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Vitamin B12-binding protein. Transports cobalamin into cells. Secreted. Neutrophil granule protein. Contains about 30% carbohydrates. Belongs to the eukaryotic cobalamin transport proteins family. extracellular region extracellular space ion transport cobalt ion transport cobalamin metabolic process cobalamin transport cobalamin binding specific granule lumen neutrophil degranulation tertiary granule lumen uc001noj.1 uc001noj.2 uc001noj.3 uc001noj.4 
ENST00000257287.5 CEP135 ENST00000257287.5 Homo sapiens centrosomal protein 135 (CEP135), mRNA. (from RefSeq NM_025009) B2RMY0 CEP4 CP135_HUMAN ENST00000257287.1 ENST00000257287.2 ENST00000257287.3 ENST00000257287.4 KIAA0635 NM_025009 O75130 Q58F25 Q66GS9 Q9H8H7 uc003hbi.1 uc003hbi.2 uc003hbi.3 uc003hbi.4 uc003hbi.5 uc003hbi.6 This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660803.172259.1, BK005586.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000257287.5/ ENSP00000257287.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriole biogenesis. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole. Interacts with DCTN2 (By similarity). Interacts with CEP250. Q9P2S5:WRAP73; NbExp=2; IntAct=EBI-1046993, EBI-1054904; Cytoplasm, cytoskeleton, centrosome, centriole. Note=During centriole biogenesis, it is concentrated within the proximal lumen of both parental centrioles and procentrioles. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q66GS9-1; Sequence=Displayed; Name=2; IsoId=Q66GS9-2; Sequence=VSP_012743, VSP_012744; Defects in CEP135 are the cause of microcephaly, primary, type 8 (MCPH8) [MIM:614673]. MCPH8 is a disease defined as a head circumference more than 3 standard deviations below the age- related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. Belongs to the CEP135/TSGA10 family. Sequence=AAH12003.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAA31610.2; Type=Miscellaneous discrepancy; Note=Intron retention; G2/M transition of mitotic cell cycle protein binding cytoplasm centrosome centriole cytosol cytoskeleton centriole replication protein C-terminus binding regulation of G2/M transition of mitotic cell cycle centriole-centriole cohesion ciliary basal body docking positive regulation of non-motile cilium assembly positive regulation of establishment of protein localization uc003hbi.1 uc003hbi.2 uc003hbi.3 uc003hbi.4 uc003hbi.5 uc003hbi.6 
ENST00000257290.10 PDGFRA ENST00000257290.10 Homo sapiens platelet derived growth factor receptor alpha (PDGFRA), transcript variant 1, mRNA. (from RefSeq NM_006206) B2RE69 E9PBH0 ENST00000257290.1 ENST00000257290.2 ENST00000257290.3 ENST00000257290.4 ENST00000257290.5 ENST00000257290.6 ENST00000257290.7 ENST00000257290.8 ENST00000257290.9 NM_006206 P16234 PDGFR2 PGFRA_HUMAN Q6P4H5 Q96KZ7 Q9UD28 RHEPDGFRA uc003han.1 uc003han.2 uc003han.3 uc003han.4 uc003han.5 uc003han.6 This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012]. Tyrosine-protein kinase that acts as a cell-surface receptor for PDGFA, PDGFB and PDGFC and plays an essential role in the regulation of embryonic development, cell proliferation, survival and chemotaxis. Depending on the context, promotes or inhibits cell proliferation and cell migration. Plays an important role in the differentiation of bone marrow-derived mesenchymal stem cells. Required for normal skeleton development and cephalic closure during embryonic development. Required for normal development of the mucosa lining the gastrointestinal tract, and for recruitment of mesenchymal cells and normal development of intestinal villi. Plays a role in cell migration and chemotaxis in wound healing. Plays a role in platelet activation, secretion of agonists from platelet granules, and in thrombin-induced platelet aggregation. Binding of its cognate ligands - homodimeric PDGFA, homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFC -leads to the activation of several signaling cascades; the response depends on the nature of the bound ligand and is modulated by the formation of heterodimers between PDGFRA and PDGFRB. Phosphorylates PIK3R1, PLCG1, and PTPN11. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, mobilization of cytosolic Ca(2+) and the activation of protein kinase C. Phosphorylates PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and thereby mediates activation of the AKT1 signaling pathway. Mediates activation of HRAS and of the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3 and STAT5A and/or STAT5B. Receptor signaling is down-regulated by protein phosphatases that dephosphorylate the receptor and its down-stream effectors, and by rapid internalization of the activated receptor. ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. Present in an inactive conformation in the absence of bound ligand. Binding of PDGFA and/or PDGFB leads to dimerization and activation by autophosphorylation on tyrosine residues. Inhibited by imatinib, nilotinib and sorafenib. Interacts with homodimeric PDGFA, PDGFB and PDGFC, and with heterodimers formed by PDGFA and PDGFB. Monomer in the absence of bound ligand. Interaction with dimeric PDGFA, PDGFB and/or PDGFC leads to receptor dimerization, where both PDGFRA homodimers and heterodimers with PDGFRB are observed. Interacts (tyrosine phosphorylated) with SHB (via SH2 domain) (By similarity). Interacts (tyrosine phosphorylated) with SHF (via SH2 domain). Interacts (tyrosine phosphorylated) with SRC (via SH2 domain). Interacts (tyrosine phosphorylated) with PIK3R1. Interacts (tyrosine phosphorylated) with PLCG1 (via SH2 domain). Interacts (tyrosine phosphorylated) with CRK, GRB2 and GRB7. Interacts with human cytomegalovirus/HHV-5 envelop glycoprotein B/gB. Cell membrane; Single-pass type I membrane protein. Note=The activated receptor is rapidly internalized and degraded. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P16234-1; Sequence=Displayed; Name=2; IsoId=P16234-2; Sequence=VSP_007833, VSP_007834; Note=No experimental confirmation available; Name=3; IsoId=P16234-3; Sequence=VSP_042015, VSP_042016; Detected in platelets (at protein level). Widely expressed. Detected in brain, fibroblasts, smooth muscle, heart, and embryo. Expressed in primary and metastatic colon tumors and in normal colon tissue. N-glycosylated. Ubiquitinated, leading to its degradation (Probable). Autophosphorylated on tyrosine residues upon ligand binding. Autophosphorylation occurs in trans, i.e. one subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Phosphorylation at Tyr-731 and Tyr-742 is important for interaction with PIK3R1. Phosphorylation at Tyr-720 and Tyr-754 is important for interaction with PTPN11. Phosphorylation at Tyr-762 is important for interaction with CRK. Phosphorylation at Tyr-572 and Tyr-574 is important for interaction with SRC and SRC family members. Phosphorylation at Tyr-988 and Tyr-1018 is important for interaction with PLCG1. Note=A chromosomal aberration involving PDGFRA is found in some cases of hypereosinophilic syndrome. Interstitial chromosomal deletion del(4)(q12q12) causes the fusion of FIP1L1 and PDGFRA (FIP1L1-PDGFRA). Mutations that cause overexpression and/or constitutive activation of PDGFRA may be a cause of hypereosinophilic syndrome. Defects in PDGFRA are a cause of gastrointestinal stromal tumor (GIST) [MIM:606764]. Note=Mutations that cause constitutive activation of PDGFRA may be a cause of gastrointestinal stromal tumor (GIST). Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily. Contains 5 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 protein kinase domain. Sequence=AAP69563.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; MAPK cascade nucleotide binding luteinization in utero embryonic development cell activation hematopoietic progenitor cell differentiation protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity platelet-derived growth factor alpha-receptor activity vascular endothelial growth factor-activated receptor activity platelet-derived growth factor receptor binding protein binding ATP binding nucleus cytoplasm Golgi apparatus plasma membrane integral component of plasma membrane microvillus cilium protein phosphorylation chemotaxis transmembrane receptor protein tyrosine kinase signaling pathway positive regulation of cytosolic calcium ion concentration multicellular organism development estrogen metabolic process positive regulation of cell proliferation female gonad development anatomical structure morphogenesis animal organ morphogenesis external side of plasma membrane cell surface negative regulation of platelet activation positive regulation of phospholipase C activity positive regulation of phosphatidylinositol 3-kinase signaling membrane integral component of membrane viral process kinase activity phosphorylation cell migration transferase activity peptidyl-tyrosine phosphorylation signal transduction involved in regulation of gene expression cell junction extracellular matrix organization lung development adrenal gland development positive regulation of cell migration male genitalia development intrinsic component of plasma membrane macromolecular complex Leydig cell differentiation cellular response to reactive oxygen species platelet-derived growth factor receptor-alpha signaling pathway vascular endothelial growth factor binding positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway wound healing odontogenesis of dentin-containing tooth protein homodimerization activity cell projection receptor complex positive regulation of phosphatidylinositol 3-kinase activity macromolecular complex binding protein autophosphorylation platelet-derived growth factor receptor signaling pathway phosphatidylinositol-mediated signaling positive regulation of fibroblast proliferation platelet-derived growth factor binding embryonic digestive tract morphogenesis embryonic cranial skeleton morphogenesis embryonic skeletal system morphogenesis skeletal system morphogenesis regulation of chemotaxis positive regulation of protein kinase B signaling cardiac myofibril assembly palate development face morphogenesis cell chemotaxis retina vasculature development in camera-type eye positive regulation of ERK1 and ERK2 cascade platelet aggregation cellular response to amino acid stimulus metanephric glomerular capillary formation regulation of actin cytoskeleton reorganization regulation of mesenchymal stem cell differentiation uc003han.1 uc003han.2 uc003han.3 uc003han.4 uc003han.5 uc003han.6 
ENST00000257336.6 BIVM ENST00000257336.6 Homo sapiens basic, immunoglobulin-like variable motif containing (BIVM), transcript variant 1, mRNA. (from RefSeq NM_017693) BIVM_HUMAN ENST00000257336.1 ENST00000257336.2 ENST00000257336.3 ENST00000257336.4 ENST00000257336.5 NM_017693 Q2M1J2 Q86UB2 Q9NXM4 uc001vps.1 uc001vps.2 uc001vps.3 uc001vps.4 uc001vps.5 Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q86UB2-1; Sequence=Displayed; Name=2; IsoId=Q86UB2-2; Sequence=VSP_032855, VSP_032856; Note=No experimental confirmation available; Widely expressed. Expressed at higher level in spleen, ovary, small intestine, colon, peripheral blood leukocytes and liver. Also expressed in testis, ovary, aorta, appendix, trachea, pituitary gland, bladder, uterus, spinal cord, salivary gland, stomach, mammary gland and bone marrow. Weakly or not expressed in fetal spleen, adult thymus and certain cancer cell lines. Belongs to the BIVM family. Sequence=AAH51813.2; Type=Erroneous initiation; Sequence=BAA90986.1; Type=Erroneous initiation; single-stranded DNA binding endodeoxyribonuclease activity extracellular space nucleus cytoplasm nucleotide-excision repair, DNA incision, 3'-to lesion uc001vps.1 uc001vps.2 uc001vps.3 uc001vps.4 uc001vps.5 
ENST00000257347.9 CARS2 ENST00000257347.9 Homo sapiens cysteinyl-tRNA synthetase 2, mitochondrial (CARS2), transcript variant 5, non-coding RNA. (from RefSeq NR_147942) ENST00000257347.1 ENST00000257347.2 ENST00000257347.3 ENST00000257347.4 ENST00000257347.5 ENST00000257347.6 ENST00000257347.7 ENST00000257347.8 NR_147942 OK/SW-cl.10 Q8NI84 Q96IV4 Q9HA77 SYCM_HUMAN uc001vrd.1 uc001vrd.2 uc001vrd.3 uc001vrd.4 This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of cysteine to tRNA molecules. A splice-site mutation in this gene has been associated with a novel progressive myoclonic epilepsy disease with similar symptoms to MERRF syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 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. ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## ATP + L-cysteine + tRNA(Cys) = AMP + diphosphate + L-cysteinyl-tRNA(Cys). Binds 1 zinc ion per subunit (By similarity). Mitochondrion matrix (By similarity). Belongs to the class-I aminoacyl-tRNA synthetase family. Sequence=BAB93499.1; Type=Erroneous initiation; nucleotide binding aminoacyl-tRNA ligase activity cysteine-tRNA ligase activity ATP binding cytoplasm mitochondrion mitochondrial matrix translation tRNA aminoacylation for protein translation cysteinyl-tRNA aminoacylation ligase activity metal ion binding uc001vrd.1 uc001vrd.2 uc001vrd.3 uc001vrd.4 
ENST00000257359.7 ADAMTS8 ENST00000257359.7 Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif 8 (ADAMTS8), mRNA. (from RefSeq NM_007037) ATS8_HUMAN ENST00000257359.1 ENST00000257359.2 ENST00000257359.3 ENST00000257359.4 ENST00000257359.5 ENST00000257359.6 METH2 NM_007037 Q9NZS0 Q9UP79 uc001qgg.1 uc001qgg.2 uc001qgg.3 uc001qgg.4 uc001qgg.5 uc001qgg.6 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs, and disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms. Reduced expression of this gene has been observed in multiple human cancers and this gene has been proposed as a potential tumor suppressor. [provided by RefSeq, Feb 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF060153.1, SRR1660803.232015.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000257359.7/ ENSP00000257359.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Has anti-angiogenic properties. Binds 1 zinc ion per subunit (By similarity). Secreted, extracellular space, extracellular matrix (By similarity). Highly expressed in adult and fetal lung, lower expression in brain, placenta, heart, stomach and fetal brain and kidney. The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular matrix. The precursor is cleaved by a furin endopeptidase (By similarity). Contains 1 disintegrin domain. Contains 1 peptidase M12B domain. Contains 2 TSP type-1 domains. metalloendopeptidase activity integrin binding extracellular region proteolysis heparin binding peptidase activity metallopeptidase activity zinc ion binding negative regulation of cell proliferation low-affinity phosphate transmembrane transporter activity hydrolase activity phosphate ion transmembrane transport metal ion binding uc001qgg.1 uc001qgg.2 uc001qgg.3 uc001qgg.4 uc001qgg.5 uc001qgg.6 
ENST00000257408.5 KLB ENST00000257408.5 Homo sapiens klotho beta (KLB), mRNA. (from RefSeq NM_175737) ENST00000257408.1 ENST00000257408.2 ENST00000257408.3 ENST00000257408.4 KLOTB_HUMAN NM_175737 Q2M3K8 Q86Z14 uc003gua.1 uc003gua.2 uc003gua.3 uc003gua.4 uc003gua.5 Contributes to the transcriptional repression of cholesterol 7-alpha-hydroxylase (CYP7A1), the rate-limiting enzyme in bile acid synthesis. Probably inactive as a glycosidase. Increases the ability of FGFR1 and FGFR4 to bind FGF21 (By similarity). Interacts with FGFR1 and FGFR4 (By similarity). Interacts with FGF19; this interaction is direct. Interacts (via C-terminus) with FGF21; this interaction is direct. Cell membrane; Single-pass type III membrane protein (Potential). Contains 2 glycosyl hydrolase 1 regions. However, the first region lacks the essential Glu active site residue at position 241, and the second one lacks the essential Glu active site residue at position 889. These domains are therefore predicted to be inactive. Belongs to the glycosyl hydrolase 1 family. Klotho subfamily. MAPK cascade hydrolase activity, hydrolyzing O-glycosyl compounds fibroblast growth factor receptor binding protein binding plasma membrane carbohydrate metabolic process positive regulation of cell proliferation fibroblast growth factor receptor signaling pathway membrane integral component of membrane fibroblast growth factor binding positive regulation of protein kinase B signaling positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway uc003gua.1 uc003gua.2 uc003gua.3 uc003gua.4 uc003gua.5 
ENST00000257430.9 APC ENST00000257430.9 Homo sapiens APC regulator of WNT signaling pathway (APC), transcript variant 15, mRNA. (from RefSeq NM_001354906) APC_HUMAN D3DT03 DP2.5 ENST00000257430.1 ENST00000257430.2 ENST00000257430.3 ENST00000257430.4 ENST00000257430.5 ENST00000257430.6 ENST00000257430.7 ENST00000257430.8 NM_001354906 P25054 Q15162 Q15163 Q93042 uc003kpy.1 uc003kpy.2 uc003kpy.3 uc003kpy.4 uc003kpy.5 uc003kpy.6 This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Mutations in the APC gene have been found to occur in most colorectal cancers. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Dec 2019]. 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 :: BC034955.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2161674, SAMN03465403 [ECO:0000348] ##Evidence-Data-END## Tumor suppressor. Promotes rapid degradation of CTNNB1 and participates in Wnt signaling as a negative regulator. APC activity is correlated with its phosphorylation state. Activates the GEF activity of SPATA13 and ARHGEF4. Plays a role in hepatocyte growth factor (HGF)-induced cell migration. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Acts as a mediator of ERBB2-dependent stabilization of microtubules at the cell cortex. It is required for the localization of MACF1 to the cell membrane and this localization of MACF1 is critical for its function in microtubule stabilization. Forms homooligomers and heterooligomers with APC2. Interacts with DIAPH1 and DIAPH2 (By similarity). Interacts with PDZ domains of DLG1 and DLG3. Associates with catenins. Binds axin. Interacts with ARHGEF4 (via N-terminus). Interacts with MAPRE1 (via C-terminus); probably required for APC targeting to the growing microtubule plus ends. Interacts with MAPRE2 and MAPRE3 (via C-terminus). Found in a complex consisting of ARHGEF4, APC and CTNNB1. Interacts with SCRIB; may mediate APC targeting to adherens junctions of epithelial cells. Interacts with SPATA13 (via N-terminus and SH3 domain). Interacts with ASAP1 (via SH3 domain). Found in a complex composed of MACF1, APC, AXIN1, CTNNB1 and GSK3B (By similarity). Interacts at the cell membrane with FAM123A and FAM123B (via ARM repeats). P35222:CTNNB1; NbExp=7; IntAct=EBI-727707, EBI-491549; Q02248:Ctnnb1 (xeno); NbExp=8; IntAct=EBI-727707, EBI-397872; Q15691:MAPRE1; NbExp=4; IntAct=EBI-727707, EBI-1004115; Cell junction, adherens junction. Cytoplasm, cytoskeleton. Cell projection, lamellipodium. Cell projection, ruffle membrane. Cytoplasm. Cell membrane. Note=Associated with the microtubule network at the growing distal tip of microtubules. Accumulates in the lamellipodium and ruffle membrane in response to hepatocyte growth factor (HGF) treatment. The MEMO1-RHOA-DIAPH1 signaling pathway controls localization of the phosophorylated form to the cell membrane. Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=P25054-1; Sequence=Displayed; Name=Short; IsoId=P25054-2; Sequence=VSP_004115; Expressed in a variety of tissues. The microtubule tip localization signal (MtLS) motif; mediates interaction with MAPRE1 and targeting to the growing microtubule plus ends (By similarity). Phosphorylated by GSK3B. Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is facilitated by Axin. Deubiquitinated by ZRANB1/TRABID. Defects in APC are a cause of familial adenomatous polyposis (FAP) [MIM:175100]; which includes also Gardner syndrome (GS). FAP and GS contribute to tumor development in patients with uninherited forms of colorectal cancer. FAP is characterized by adenomatous polyps of the colon and rectum, but also of upper gastrointestinal tract (ampullary, duodenal and gastric adenomas). This is a viciously premalignant disease with one or more polyps progressing through dysplasia to malignancy in untreated gene carriers with a median age at diagnosis of 40 years. Defects in APC are a cause of hereditary desmoid disease (HDD) [MIM:135290]; also known as familial infiltrative fibromatosis (FIF). HDD is an autosomal dominant trait with 100% penetrance and possible variable expression among affected relatives. HDD patients show multifocal fibromatosis of the paraspinal muscles, breast, occiput, arms, lower ribs, abdominal wall, and mesentery. Desmoid tumors appears also as a complication of familial adenomatous polyposis. Defects in APC are a cause of medulloblastoma (MDB) [MIM:155255]. MDB is a malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. Although the majority of medulloblastomas occur sporadically, some manifest within familial cancer syndromes such as Turcot syndrome and basal cell nevus syndrome (Gorlin syndrome). Defects in APC are a cause of mismatch repair cancer syndrome (MMRCS) [MIM:276300]; also known as Turcot syndrome or brain tumor-polyposis syndrome 1 (BTPS1). MMRCS is an autosomal dominant disorder characterized by malignant tumors of the brain associated with multiple colorectal adenomas. Skin features include sebaceous cysts, hyperpigmented and cafe au lait spots. Defects in APC are a cause of gastric cancer (GASC) [MIM:613659]; also called gastric cancer intestinal or stomach cancer. Gastric cancer is a malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. Defects in APC are a cause of hepatocellular carcinoma (HCC) [MIM:114550]. This defect includes also the disease entity termed hepatoblastoma. APC mutations have led to some interesting observations. (1) the great majority of the mutations found to date would result in truncation of the APC product. (2) almost all the mutations have occurred within the first half of the coding sequence, and somatic mutations in colorectal tumors are further clustered in a particular region, called MCR (mutation cluster region). (3) most identified point mutations in the APC gene are transitions from cytosine to other nucleotides. (4) the location of germline mutations tends to correlate with the number of colorectal polyps in FAP patients. Inactivation of both alleles of the APC gene seems to be required as an early event to develop most adenomas and carcinomas in the colon and rectum as well as some of those in the stomach. Belongs to the adenomatous polyposis coli (APC) family. Contains 7 ARM repeats. Name=Colon cancer gene variant databases Adenomatous Polyposis Coli (APC); Note=Leiden Open Variation Database (LOVD); URL="http://chromium.liacs.nl/LOVD2/colon_cancer/home.php?select_db=APC"; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/APC118.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APC"; Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APC"; Name=Wikipedia; Note=APC entry; URL="http://en.wikipedia.org/wiki/APC_%28gene%29"; mitotic cytokinesis kinetochore cell fate specification protein binding nucleus nucleoplasm cytoplasm centrosome cytosol cytoskeleton microtubule plasma membrane adherens junction bicellular tight junction cellular response to DNA damage stimulus negative regulation of microtubule depolymerization cell cycle arrest mitotic spindle assembly checkpoint cell adhesion pattern specification process beta-catenin binding microtubule binding negative regulation of cell proliferation insulin receptor signaling pathway positive regulation of cell death membrane Wnt signaling pathway lateral plasma membrane catenin complex cell migration protein deubiquitination protein kinase regulator activity protein kinase binding lamellipodium cell junction negative regulation of Wnt signaling pathway positive regulation of cell migration beta-catenin destruction complex positive regulation of pseudopodium assembly ubiquitin protein ligase binding ruffle membrane regulation of microtubule-based process identical protein binding cell projection positive regulation of apoptotic process gamma-catenin binding regulation of cell differentiation positive regulation of protein catabolic process negative regulation of cyclin-dependent protein serine/threonine kinase activity perinuclear region of cytoplasm microtubule plus-end binding protein homooligomerization regulation of attachment of spindle microtubules to kinetochore macromolecular complex assembly bicellular tight junction assembly dynein complex binding negative regulation of canonical Wnt signaling pathway positive regulation of protein localization to centrosome beta-catenin destruction complex assembly beta-catenin destruction complex disassembly Wnt signalosome cytoplasmic microtubule cell-cell adherens junction cadherin binding uc003kpy.1 uc003kpy.2 uc003kpy.3 uc003kpy.4 uc003kpy.5 uc003kpy.6 
ENST00000257497.11 ANXA1 ENST00000257497.11 Homo sapiens annexin A1 (ANXA1), mRNA. (from RefSeq NM_000700) ENST00000257497.1 ENST00000257497.10 ENST00000257497.2 ENST00000257497.3 ENST00000257497.4 ENST00000257497.5 ENST00000257497.6 ENST00000257497.7 ENST00000257497.8 ENST00000257497.9 NM_000700 Q5TZZ9 Q5TZZ9_HUMAN RP11-71A24.1-002 hCG_17305 uc004ajf.1 uc004ajf.2 uc004ajf.3 This gene encodes a membrane-localized protein that binds phospholipids. This protein inhibits phospholipase A2 and has anti-inflammatory activity. Loss of function or expression of this gene has been detected in multiple tumors. [provided by RefSeq, Dec 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189652.120863.1, SRR5189652.240234.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000257497.11/ ENSP00000257497.6 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## A pair of annexin repeats may form one binding site for calcium and phospholipid (By similarity). Belongs to the annexin family. Contains 4 annexin repeats. neutrophil homeostasis regulation of leukocyte migration single-stranded DNA binding single-stranded RNA binding phospholipase inhibitor activity calcium ion binding protein binding phospholipid binding calcium-dependent phospholipid binding extracellular space nucleus nucleoplasm cytoplasm cytosol plasma membrane phagocytosis inflammatory response signal transduction cell surface receptor signaling pathway response to hormone response to X-ray response to organic cyclic compound myoblast migration involved in skeletal muscle regeneration apical plasma membrane lateral plasma membrane phospholipase A2 inhibitor activity insulin secretion prostate gland development endocrine pancreas development positive regulation of prostaglandin biosynthetic process motile cilium response to corticosteroid mitochondrial membrane response to estradiol DNA duplex unwinding regulation of interleukin-1 production macromolecular complex positive regulation of neutrophil apoptotic process gliogenesis regulation of cell proliferation sarcolemma response to drug mast cell granule protein homodimerization activity positive regulation of apoptotic process response to peptide hormone estrous cycle alpha-beta T cell differentiation arachidonic acid secretion negative regulation of protein secretion regulation of inflammatory response response to glucocorticoid cellular response to hydrogen peroxide hepatocyte differentiation prolactin secretion response to interleukin-1 cellular response to glucocorticoid stimulus synaptic membrane positive regulation of G1/S transition of mitotic cell cycle negative regulation of phospholipase A2 activity DNA/DNA annealing activity uc004ajf.1 uc004ajf.2 uc004ajf.3 
ENST00000257527.9 ADAM19 ENST00000257527.9 Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA. (from RefSeq NM_033274) ADA19_HUMAN ENST00000257527.1 ENST00000257527.2 ENST00000257527.3 ENST00000257527.4 ENST00000257527.5 ENST00000257527.6 ENST00000257527.7 ENST00000257527.8 FKSG34 MLTNB NM_033274 Q9BZL5 Q9H013 Q9UHP2 uc003lwz.1 uc003lwz.2 uc003lwz.3 uc003lwz.4 uc003lwz.5 uc003lwz.6 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) 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. This member is a type I transmembrane protein and serves as a marker for dendritic cell differentiation. It has been demonstrated to be an active metalloproteinase, which may be involved in normal physiological processes such as cell migration, cell adhesion, cell-cell and cell-matrix interactions, and signal transduction. It is proposed to play a role in pathological processes, such as cancer, inflammatory diseases, renal diseases, and Alzheimer's disease. [provided by RefSeq, May 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 :: Y13786.2, SRR1803613.164608.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000257527.9/ ENSP00000257527.5 RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## Participates in the proteolytic processing of beta-type neuregulin isoforms which are involved in neurogenesis and synaptogenesis, suggesting a regulatory role in glial cell. Also cleaves alpha-2 macroglobulin. May be involved in osteoblast differentiation and/or osteoblast activity in bone (By similarity). Binds 1 zinc ion per subunit (By similarity). Interacts with SH3PXD2A. Membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=2; Name=A; IsoId=Q9H013-1; Sequence=Displayed; Name=B; IsoId=Q9H013-2; Sequence=VSP_005481; Expressed in many normal organ tissues and several cancer cell lines. By 1,25(OH)2VD3 in monocytes. 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). Contains 1 disintegrin domain. Contains 1 EGF-like domain. Contains 1 peptidase M12B domain. placenta development metalloendopeptidase activity protein binding nucleus Golgi apparatus plasma membrane proteolysis membrane protein ectodomain proteolysis peptidase activity metallopeptidase activity positive regulation of gene expression membrane integral component of membrane hydrolase activity SH3 domain binding extracellular matrix organization metal ion binding positive regulation of cell-cell adhesion mediated by cadherin uc003lwz.1 uc003lwz.2 uc003lwz.3 uc003lwz.4 uc003lwz.5 uc003lwz.6 
ENST00000257536.13 CCNJL ENST00000257536.13 Homo sapiens cyclin J like (CCNJL), transcript variant 2, mRNA. (from RefSeq NM_001308173) B4DZA8 B4DZA8_HUMAN B5MDN2 ENST00000257536.1 ENST00000257536.10 ENST00000257536.11 ENST00000257536.12 ENST00000257536.2 ENST00000257536.3 ENST00000257536.4 ENST00000257536.5 ENST00000257536.6 ENST00000257536.7 ENST00000257536.8 ENST00000257536.9 NM_001308173 uc011dee.1 uc011dee.2 uc011dee.3 uc011dee.4 Belongs to the cyclin family. nucleus uc011dee.1 uc011dee.2 uc011dee.3 uc011dee.4 
ENST00000257548.10 USP30 ENST00000257548.10 Homo sapiens ubiquitin specific peptidase 30 (USP30), transcript variant 1, mRNA. (from RefSeq NM_032663) ENST00000257548.1 ENST00000257548.2 ENST00000257548.3 ENST00000257548.4 ENST00000257548.5 ENST00000257548.6 ENST00000257548.7 ENST00000257548.8 ENST00000257548.9 NM_032663 Q70CQ3 Q8WTU7 Q96JX4 Q9BSS3 UBP30_HUMAN uc010sxi.1 uc010sxi.2 uc010sxi.3 uc010sxi.4 USP30, a member of the ubiquitin-specific protease family (see USP1, MIM 603478), is a novel mitochondrial deubiquitinating (DUB) enzyme (Nakamura and Hirose, 2008 [PubMed 18287522]).[supplied by OMIM, Dec 2008]. May participate in the maintenance of mitochondrial morphology. 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). Mitochondrion outer membrane. Expressed in skeletal muscle, pancreas, liver and kidney. Belongs to the peptidase C19 family. Sequence=AAH04868.1; Type=Erroneous initiation; Sequence=BAB55392.1; Type=Erroneous initiation; mitophagy cysteine-type endopeptidase activity thiol-dependent ubiquitin-specific protease activity mitochondrion mitochondrial outer membrane proteolysis ubiquitin-dependent protein catabolic process mitochondrial fusion peptidase activity cysteine-type peptidase activity membrane integral component of membrane protein deubiquitination hydrolase activity protein K11-linked deubiquitination thiol-dependent ubiquitinyl hydrolase activity protein K6-linked deubiquitination negative regulation of macromitophagy uc010sxi.1 uc010sxi.2 uc010sxi.3 uc010sxi.4 
ENST00000257549.9 SDS ENST00000257549.9 Homo sapiens serine dehydratase (SDS), mRNA. (from RefSeq NM_006843) A8K9P5 ENST00000257549.1 ENST00000257549.2 ENST00000257549.3 ENST00000257549.4 ENST00000257549.5 ENST00000257549.6 ENST00000257549.7 ENST00000257549.8 NM_006843 P20132 SDH SDHL_HUMAN uc001tvg.1 uc001tvg.2 uc001tvg.3 uc001tvg.4 uc001tvg.5 This gene encodes one of three enzymes that are involved in metabolizing serine and glycine. L-serine dehydratase converts L-serine to pyruvate and ammonia and requires pyridoxal phosphate as a cofactor. The encoded protein can also metabolize threonine to NH4+ and 2-ketobutyrate. The encoded protein is found predominantly in the liver. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.600160.1, SRR5189664.1638.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000257549.9/ ENSP00000257549.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## L-serine = pyruvate + NH(3). L-threonine = 2-oxobutanoate + NH(3). Pyridoxal phosphate. Kinetic parameters: KM=23 mM for serine; KM=31 mM for threonine; Carbohydrate biosynthesis; gluconeogenesis. Homodimer. Cytoplasm. Belongs to the serine/threonine dehydratase family. L-serine ammonia-lyase activity L-threonine ammonia-lyase activity cytoplasm mitochondrion cytosol gluconeogenesis cellular amino acid metabolic process L-serine catabolic process threonine catabolic process lyase activity L-threonine catabolic process to glycine pyridoxal phosphate binding protein homodimerization activity pyruvate biosynthetic process uc001tvg.1 uc001tvg.2 uc001tvg.3 uc001tvg.4 uc001tvg.5 
ENST00000257552.7 MSI1 ENST00000257552.7 Homo sapiens musashi RNA binding protein 1 (MSI1), mRNA. (from RefSeq NM_002442) ENST00000257552.1 ENST00000257552.2 ENST00000257552.3 ENST00000257552.4 ENST00000257552.5 ENST00000257552.6 MSI1H_HUMAN NM_002442 O43347 Q96PU0 Q96PU1 Q96PU2 Q96PU3 uc001tye.1 uc001tye.2 uc001tye.3 This gene encodes a protein containing two conserved tandem RNA recognition motifs. Similar proteins in other species function as RNA-binding proteins and play central roles in posttranscriptional gene regulation. Expression of this gene has been correlated with the grade of the malignancy and proliferative activity in gliomas and melanomas. A pseudogene for this gene is located on chromosome 11q13. [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 :: AB012851.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1968189 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000257552.7/ ENSP00000257552.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## RNA binding protein that regulates the expression of target mRNAs at the translation level. Regulates expression of the NOTCH1 antagonist NUMB. Binds RNA containing the sequence 5'- GUUAGUUAGUUAGUU-3' and other sequences containing the pattern 5'- [GA]U(1-3)AGU-3'. May play a role in the proliferation and maintenance of stem cells in the central nervous system (By similarity). Cytoplasm (By similarity). Nucleus (By similarity). Detected in fetal kidney, brain, liver and lung, and in adult brain and pancreas. Detected in hepatoma cell lines. The first RNA recognition motif binds more strongly to RNA compared to the second one (By similarity). Belongs to the Musashi family. Contains 2 RRM (RNA recognition motif) domains. nucleic acid binding RNA binding single-stranded RNA binding nucleus cytoplasm polysome nervous system development poly(U) RNA binding identical protein binding ribonucleoprotein complex uc001tye.1 uc001tye.2 uc001tye.3 
ENST00000257555.11 HNF1A ENST00000257555.11 Homo sapiens HNF1 homeobox A (HNF1A), transcript variant 2, mRNA. (from RefSeq NM_000545) A0A0A0MQU7 ENST00000257555.1 ENST00000257555.10 ENST00000257555.2 ENST00000257555.3 ENST00000257555.4 ENST00000257555.5 ENST00000257555.6 ENST00000257555.7 ENST00000257555.8 ENST00000257555.9 NM_000545 uc001tzg.1 uc001tzg.2 uc001tzg.3 uc001tzg.4 uc001tzg.5 The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M57732.1, BC104910.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000257555.11/ ENSP00000257555.5 RefSeq Select criteria :: based on manual assertion, conservation, expression ##RefSeq-Attributes-END## uc001tzg.1 uc001tzg.2 uc001tzg.3 uc001tzg.4 uc001tzg.5 
ENST00000257566.7 TBX3 ENST00000257566.7 Homo sapiens T-box transcription factor 3 (TBX3), transcript variant 2, mRNA. (from RefSeq NM_016569) ENST00000257566.1 ENST00000257566.2 ENST00000257566.3 ENST00000257566.4 ENST00000257566.5 ENST00000257566.6 NM_016569 O15119 Q8TB20 Q9UKF8 TBX3_HUMAN uc001tvt.1 uc001tvt.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 protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]. Transcriptional repressor involved in developmental processes. Probably plays a role in limb pattern formation. Nucleus (Potential). Event=Alternative splicing; Named isoforms=4; Name=II; IsoId=O15119-1; Sequence=Displayed; Note=Contains an interrupted T-box domain; Name=I; IsoId=O15119-2; Sequence=VSP_006384; Name=III; IsoId=O15119-3; Sequence=VSP_006385, VSP_006386; Note=Contains an interrupted T-box domain; Name=IV; IsoId=O15119-4; Sequence=Not described; Note=May be produced by joining exon 1 to exon 7 thereby eliminating the T-box; Widely expressed. Defects in TBX3 are the cause of ulnar-mammary syndrome (UMS) [MIM:181450]. UMS is characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands. Contains 1 T-box DNA-binding domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TBX3"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II transcription factor 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 skeletal system development blood vessel development in utero embryonic development cell fate specification heart looping heart morphogenesis outflow tract morphogenesis atrioventricular bundle cell differentiation cardiac chamber development 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 central nervous system development cell aging positive regulation of cell proliferation anterior/posterior axis specification, embryo animal organ morphogenesis specification of animal organ position stem cell population maintenance limbic system development male genitalia development female genitalia development negative regulation of epithelial cell differentiation mammary gland development luteinizing hormone secretion embryonic heart tube development limb morphogenesis embryonic forelimb morphogenesis embryonic hindlimb morphogenesis forelimb morphogenesis regulation of cell proliferation embryonic digit morphogenesis negative regulation of apoptotic process sequence-specific DNA binding negative regulation of myoblast differentiation positive regulation of cell cycle negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter follicle-stimulating hormone secretion mesoderm morphogenesis cardiac muscle cell differentiation palate development ventricular septum morphogenesis branching involved in mammary gland duct morphogenesis mammary placode formation cardiac muscle cell fate commitment sinoatrial node cell development cellular senescence positive regulation of stem cell proliferation uc001tvt.1 uc001tvt.2 
ENST00000257570.10 OASL ENST00000257570.10 Homo sapiens 2'-5'-oligoadenylate synthetase like (OASL), transcript variant 1, mRNA. (from RefSeq NM_003733) ENST00000257570.1 ENST00000257570.2 ENST00000257570.3 ENST00000257570.4 ENST00000257570.5 ENST00000257570.6 ENST00000257570.7 ENST00000257570.8 ENST00000257570.9 NM_003733 O75686 OASL_HUMAN Q15646 Q17R95 Q9Y6K6 Q9Y6K7 TRIP14 uc001tzj.1 uc001tzj.2 uc001tzj.3 uc001tzj.4 Does not have 2'-5'-OAS activity, but can bind double- stranded RNA. Displays antiviral activity against encephalomyocarditis virus (EMCV) and hepatitis C virus (HCV) via an alternative antiviral pathway independent of RNase L. Specifically interacts with the ligand binding domain of the thyroid receptor (TR). TRIP14 does not require the presence of thyroid hormone for its interaction. Binds MBD1. Isoform p56: Nucleus, nucleolus. Cytoplasm. Isoform p30: Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=p56; IsoId=Q15646-1; Sequence=Displayed; Name=p30; IsoId=Q15646-2; Sequence=VSP_003743, VSP_003744; Note=No experimental confirmation available; Expressed in most tissues, with the highest levels in primary blood Leukocytes and other hematopoietic system tissues, colon, stomach and to some extent in testis. By type I interferon (IFN) and viruses. The ubiquitin-like domains are essential for its antiviral activity. Belongs to the 2-5A synthase family. Contains 2 ubiquitin-like domains. This is the ortholog of mouse OASL1. Sequence=AAC41733.1; Type=Frameshift; Positions=386; immune system process DNA binding RNA binding double-stranded RNA binding protein binding ATP binding nucleus nucleoplasm nucleolus cytoplasm cytosol immune response response to virus membrane transferase activity negative regulation of viral genome replication innate immune response thyroid hormone receptor binding defense response to virus interferon-gamma-mediated signaling pathway type I interferon signaling pathway regulation of ribonuclease activity 2'-5'-oligoadenylate synthetase activity uc001tzj.1 uc001tzj.2 uc001tzj.3 uc001tzj.4 
ENST00000257572.5 HRK ENST00000257572.5 Homo sapiens harakiri, BCL2 interacting protein (HRK), transcript variant 1, mRNA. (from RefSeq NM_003806) BID3 ENST00000257572.1 ENST00000257572.2 ENST00000257572.3 ENST00000257572.4 HRK_HUMAN NM_003806 O00198 uc001twe.1 uc001twe.2 uc001twe.3 uc001twe.4 uc001twe.5 This gene encodes a member of the BCL-2 protein family. Members of this family are involved in activating or inhibiting apoptosis. The encoded protein localizes to intracellular membranes. This protein promotes apoptosis by interacting with the apoptotic inhibitors BCL-2 and BCL-X(L) via its BH3 domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]. Promotes apoptosis. Interacts with BCL2 and BCL2L1. Interacts with C1QBP. Q07817-1:BCL2L1; NbExp=2; IntAct=EBI-701322, EBI-287195; Membrane; Single-pass membrane protein. Mitochondrion. The BH3 motif is required for the induction of cell death. protein binding mitochondrion apoptotic process membrane integral component of membrane positive regulation of protein complex assembly regulation of apoptotic process positive regulation of apoptotic process positive regulation of release of cytochrome c from mitochondria uc001twe.1 uc001twe.2 uc001twe.3 uc001twe.4 uc001twe.5 
ENST00000257575.9 RNFT2 ENST00000257575.9 Homo sapiens ring finger protein, transmembrane 2 (RNFT2), transcript variant 3, mRNA. (from RefSeq NM_001382266) ENST00000257575.1 ENST00000257575.2 ENST00000257575.3 ENST00000257575.4 ENST00000257575.5 ENST00000257575.6 ENST00000257575.7 ENST00000257575.8 NM_001382266 Q96EX2 Q96SU5 RNFT2_HUMAN TMEM118 uc058tsu.1 uc058tsu.2 Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q96EX2-1; Sequence=Displayed; Name=2; IsoId=Q96EX2-2; Sequence=VSP_023465, VSP_023466; Note=No experimental confirmation available; Name=3; IsoId=Q96EX2-3; Sequence=VSP_035514, VSP_035515, VSP_035516; Note=No experimental confirmation available; Name=4; IsoId=Q96EX2-4; Sequence=VSP_035513; Note=No experimental confirmation available; Contains 1 RING-type zinc finger. Sequence=AAH11878.1; Type=Erroneous initiation; membrane integral component of membrane metal ion binding uc058tsu.1 uc058tsu.2 
ENST00000257604.9 TRAFD1 ENST00000257604.9 Homo sapiens TRAF-type zinc finger domain containing 1 (TRAFD1), transcript variant 1, mRNA. (from RefSeq NM_001143906) A8K5L6 ENST00000257604.1 ENST00000257604.2 ENST00000257604.3 ENST00000257604.4 ENST00000257604.5 ENST00000257604.6 ENST00000257604.7 ENST00000257604.8 FLN29 NM_001143906 O14545 TRAD1_HUMAN uc001tto.1 uc001tto.2 uc001tto.3 uc001tto.4 The innate immune system confers host defense against viral and microbial infection, and TRAFD1 is a negative feedback regulator that controls excessive immune responses (Sanada et al., 2008 [PubMed 18849341]).[supplied by OMIM, Dec 2009]. Negative feedback regulator that controls excessive innate immune responses. Regulates both Toll-like receptor 4 (TLR4) and DDX58/RIG1-like helicases (RLH) pathways. May inhibit the LTR pathway by direct interaction with TRAF6 and attenuation of NF-kappa-B activation. May negatively regulate the RLH pathway downstream from MAVS and upstream of NF-kappa-B and IRF3 (By similarity). Interacts with MAVS, TICAM1, TRAF1, TRAF2, TRAF3 (By similarity). Interacts with TRAF6. Contains 1 TRAF-type zinc finger. protein binding negative regulation of innate immune response metal ion binding uc001tto.1 uc001tto.2 uc001tto.3 uc001tto.4 
ENST00000257626.12 GSAP ENST00000257626.12 Homo sapiens gamma-secretase activating protein (GSAP), transcript variant 9, non-coding RNA. (from RefSeq NR_146938) A4D1B5 A4D1B6 ENST00000257626.1 ENST00000257626.10 ENST00000257626.11 ENST00000257626.2 ENST00000257626.3 ENST00000257626.4 ENST00000257626.5 ENST00000257626.6 ENST00000257626.7 ENST00000257626.8 ENST00000257626.9 GSAP_HUMAN NR_146938 PION Q3MJC0 Q8ND73 Q9UMH3 Q9Y4L9 uc003ugf.1 uc003ugf.2 uc003ugf.3 uc003ugf.4 Accumulation of neurotoxic amyloid-beta is a major hallmark of Alzheimer disease (AD; MIM 104300). Formation of amyloid-beta is catalyzed by gamma-secretase (see PSEN1; MIM 104311), a protease with numerous substrates. PION, or GSAP, selectively increases amyloid-beta production through a mechanism involving its interaction with both gamma-secretase and its substrate, the amyloid-beta precursor protein (APP; MIM 104760) C-terminal fragment (APP-CTF) (He et al., 2010 [PubMed 20811458]).[supplied by OMIM, Nov 2010]. 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 :: SRR1660807.46624.1 [ECO:0000332] ##Evidence-Data-END## Regulator of gamma-secretase activity, which specifically activates the production of beta-amyloid protein (beta-amyloid protein 40 and beta-amyloid protein 42), without affecting the cleavage of other gamma-secretase targets such has Notch. The gamma-secretase complex is an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor protein). Specifically promotes the gamma-cleavage of APP CTF-alpha (also named APP-CTF) by the gamma-secretase complex to generate beta- amyloid, while it reduces the epsilon-cleavage of APP CTF-alpha, leading to a low production of AICD. Interacts with APP; specifically interacts with the CTF- alpha product of APP. Interacts with the gamma-secretase complex. Golgi apparatus, trans-Golgi network. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=A4D1B5-1; Sequence=Displayed; Name=2; IsoId=A4D1B5-2; Sequence=VSP_033772, VSP_033773, VSP_033774; Name=3; IsoId=A4D1B5-3; Sequence=VSP_033773, VSP_033774; Name=4; IsoId=A4D1B5-4; Sequence=VSP_033771; Widely expressed. The protein is first synthesized as a holoprotein form of 98 kDa and rapidly processed into the gamma-secretase-activating protein 16 kDa C-terminal form, which constitutes the predominant form. The gamma-secretase regulator activity is specifically inhibited by imatinib (also known as STI571 or Gleevec), an anticancer drug that selectively decreases beta- amyloid protein production. Imatinib binds PION/GSAP and acts by preventing PION/GSAP interaction with the gamma-secretase substrate, CTF-alpha (PubMed:20811458). Its role as an activator of beta-amyloid protein production makes it a promising therapeutic target for the treatment of Alzheimer disease (PubMed:20811458). Belongs to the GSAP family. Sequence=CAD39023.2; Type=Erroneous initiation; Note=Translation N-terminally extended; beta-amyloid binding protein binding Golgi apparatus trans-Golgi network regulation of proteolysis positive regulation of beta-amyloid formation uc003ugf.1 uc003ugf.2 uc003ugf.3 uc003ugf.4 
ENST00000257627.5 OCM2 ENST00000257627.5 Homo sapiens oncomodulin 2 (OCM2), mRNA. (from RefSeq NM_006188) ENST00000257627.1 ENST00000257627.2 ENST00000257627.3 ENST00000257627.4 NM_006188 OCM2_HUMAN OCMN P0CE71 P32930 Q6ISI5 Q75MW0 uc003upc.1 uc003upc.2 uc003upc.3 uc003upc.4 uc003upc.5 This gene is similar to the oncomodulin gene, a high-affinity calcium ion-binding protein that belongs to the superfamily of calmodulin proteins, also known as the EF-hand 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## RNAseq introns :: mixed/partial sample support SAMEA1968968, SAMEA2148874 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Belongs to the parvalbumin family. Contains 2 EF-hand domains. Could be the product of a pseudogene. calcium ion binding nucleus cytoplasm metal ion binding uc003upc.1 uc003upc.2 uc003upc.3 uc003upc.4 uc003upc.5 
ENST00000257663.4 TMEM60 ENST00000257663.4 Homo sapiens transmembrane protein 60 (TMEM60), mRNA. (from RefSeq NM_032936) A4D1C3 C7orf35 DC32 ENST00000257663.1 ENST00000257663.2 ENST00000257663.3 NM_032936 Q86UM0 Q9H2L4 TMM60_HUMAN uc003ugn.1 uc003ugn.2 uc003ugn.3 uc003ugn.4 uc003ugn.5 Membrane; Multi-pass membrane protein (Potential). Sequence=AAH65930.1; Type=Erroneous initiation; membrane integral component of membrane uc003ugn.1 uc003ugn.2 uc003ugn.3 uc003ugn.4 uc003ugn.5 
ENST00000257694.13 PNPLA8 ENST00000257694.13 Homo sapiens patatin like phospholipase domain containing 8 (PNPLA8), transcript variant 3, mRNA. (from RefSeq NM_001256008) A4D0S1 BM-043 ENST00000257694.1 ENST00000257694.10 ENST00000257694.11 ENST00000257694.12 ENST00000257694.2 ENST00000257694.3 ENST00000257694.4 ENST00000257694.5 ENST00000257694.6 ENST00000257694.7 ENST00000257694.8 ENST00000257694.9 IPLA22 IPLA2G NM_001256008 O95035 PLPL8_HUMAN Q8N3I3 Q9H7T5 Q9NP80 Q9NR17 Q9NUN2 Q9NZ79 uc003vfh.1 uc003vfh.2 uc003vfh.3 uc003vfh.4 This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane phospholipids. The product of this gene is a calcium-independent phospholipase. Mutations in this gene have been associated with mitochondrial myopathy with lactic acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2015]. Calcium-independent phospholipase A2, which catalyzes the hydrolysis of the sn-2 position of glycerophospholipids, PtdSer and to a lower extent PtdCho. Cleaves membrane phospholipids. 2-lysophosphatidylcholine + H(2)O = glycerophosphocholine + a carboxylate. Inhibited by E-6-bromomethylene-3-1- naphthalenyl-2H-tetrahydropyran-2-one (BEL). pH dependence: Optimum pH is 8.0; Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity). Golgi apparatus membrane; Single-pass membrane protein (By similarity). Cytoplasm, perinuclear region (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NP80-1; Sequence=Displayed; Name=2; IsoId=Q9NP80-2; Sequence=VSP_028005; Note=No experimental confirmation available; Expressed in parenchymal tissues including heart, skeletal muscle, placenta, brain, liver and pancreas. Also expressed in bronchial epithelial cells and kidney. Highest expression is observed in skeletal muscle and heart. Contains 1 patatin domain. Sequence=AAF67630.1; Type=Erroneous initiation; Sequence=BAA92090.1; Type=Erroneous initiation; Sequence=EAL24384.1; Type=Erroneous gene model prediction; Golgi membrane prostaglandin biosynthetic process lysophospholipase activity ATP binding cytoplasm peroxisome peroxisomal membrane endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus lipid metabolic process fatty acid metabolic process cell death membrane integral component of membrane lipid catabolic process hydrolase activity arachidonic acid metabolic process phosphatidylcholine catabolic process phosphatidylcholine acyl-chain remodeling phosphatidylethanolamine acyl-chain remodeling linoleic acid metabolic process phosphatidylethanolamine catabolic process calcium-independent phospholipase A2 activity perinuclear region of cytoplasm arachidonic acid secretion uc003vfh.1 uc003vfh.2 uc003vfh.3 uc003vfh.4 
ENST00000257696.5 HILPDA ENST00000257696.5 Homo sapiens hypoxia inducible lipid droplet associated (HILPDA), transcript variant 1, mRNA. (from RefSeq NM_013332) A4D0Z5 C7orf68 ENST00000257696.1 ENST00000257696.2 ENST00000257696.3 ENST00000257696.4 HIG2 HLPDA_HUMAN NM_013332 Q52LY5 Q53HJ7 Q9Y5L2 uc003vne.1 uc003vne.2 uc003vne.3 uc003vne.4 uc003vne.5 uc003vne.6 Increases intracellular lipid accumulation. Stimulates expression of cytokines including IL6, MIF and VEGFA. Enhances cell growth and proliferation. Lipid droplet. Secreted. Membrane; Single- pass membrane protein (Potential). Highly expressed in renal cell carcinoma cells but barely detectable in adjacent normal kidney tissue. Detected in some cervical and endometrial cancers. Expression also detected in fetal kidney with little or no expression observed in normal adult heart, liver, lung, pancreas, prostate or spinal cord (at protein level). By hypoxia but highly abundant under normoxic conditions (at protein level). positive regulation of cytokine production receptor binding protein binding extracellular region extracellular space nucleoplasm lipid particle cytosol positive regulation of cell proliferation cell surface positive regulation of lipid storage membrane integral component of membrane secretory granule lipid particle organization autocrine signaling cellular response to hypoxia uc003vne.1 uc003vne.2 uc003vne.3 uc003vne.4 uc003vne.5 uc003vne.6 
ENST00000257700.7 RINT1 ENST00000257700.7 Homo sapiens RAD50 interactor 1 (RINT1), transcript variant 5, non-coding RNA. (from RefSeq NR_144478) ENST00000257700.1 ENST00000257700.2 ENST00000257700.3 ENST00000257700.4 ENST00000257700.5 ENST00000257700.6 NR_144478 Q6NUQ1 Q75MG9 Q75MH0 Q96IW8 Q9H229 Q9HAD9 RINT1_HUMAN uc003vda.1 uc003vda.2 This gene encodes a protein first identified for its ability to interact with the RAD50 double strand break repair protein, with the resulting interaction implicated in the regulation of cell cycle progression and telomere length. The encoded protein may also play a role in trafficking of cellular cargo from the endosome to the trans-Golgi network. Mutations in this gene may be associated with breast cancer in human patients. [provided by RefSeq, Oct 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 :: SRR1660805.167017.1, SRR1660809.119141.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA2142586 [ECO:0000348] ##Evidence-Data-END## Involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum. May play a role in cell cycle checkpoint control. Essential for telomere length control. Associated with a SNARE complex consisting of STX18, USE1L, BNIP1/SEC20L, and SEC22B. Interacts directly with BNIP1/SEC20L and ZW10. Interacts with RAD50 during late S and G2/M phases. Interacts with RBL2, preferentially with the active, hypophosphorylated form. Cytoplasm. Endoplasmic reticulum membrane; Peripheral membrane protein. Expressed throughout the cell cycle. According to PubMed:11096100, a longer form, which may be due to the differential initiation of translation using a non-AUG codon, may exist. However, the existence of such form has not been clearly demonstrated. Belongs to the RINT1 family. Contains 1 RINT1/TIP20 domain. Sequence=AAG42101.1; Type=Erroneous initiation; Sequence=AAQ96849.1; Type=Erroneous gene model prediction; Sequence=AAQ96850.1; Type=Erroneous gene model prediction; Sequence=BAB13910.1; Type=Erroneous initiation; protein binding cytoplasm endoplasmic reticulum endoplasmic reticulum membrane cytosol retrograde vesicle-mediated transport, Golgi to ER cell cycle protein transport membrane vesicle-mediated transport Golgi vesicle transport regulation of ER to Golgi vesicle-mediated transport Dsl1/NZR complex regulation of signal transduction involved in mitotic G2 DNA damage checkpoint uc003vda.1 uc003vda.2 
ENST00000257749.9 BACH2 ENST00000257749.9 Homo sapiens BTB domain and CNC homolog 2 (BACH2), transcript variant 1, mRNA. (from RefSeq NM_021813) BACH2_HUMAN E1P518 ENST00000257749.1 ENST00000257749.2 ENST00000257749.3 ENST00000257749.4 ENST00000257749.5 ENST00000257749.6 ENST00000257749.7 ENST00000257749.8 NM_021813 Q59H70 Q5T793 Q9BYV9 Q9NTS5 uc011eab.1 uc011eab.2 uc011eab.3 uc011eab.4 Transcriptional regulator that acts as repressor or activator. Binds to Maf recognition elements (MARE). Play important roles in coordinating transcription activation and repression by MAFK (By similarity). Heterodimer of BACH2 and Maf-related transcription factors (By similarity). Nucleus (By similarity). B-cell specific. Belongs to the bZIP family. CNC subfamily. Contains 1 BTB (POZ) domain. Contains 1 bZIP (basic-leucine zipper) domain. Sequence=BAD92126.1; Type=Erroneous initiation; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus cytoplasm cytosol regulation of transcription, DNA-templated nuclear import uc011eab.1 uc011eab.2 uc011eab.3 uc011eab.4 
ENST00000257765.10 KHDC1 ENST00000257765.10 Homo sapiens KH domain containing 1 (KHDC1), transcript variant 2, mRNA. (from RefSeq NM_030568) C6orf148 ENST00000257765.1 ENST00000257765.2 ENST00000257765.3 ENST00000257765.4 ENST00000257765.5 ENST00000257765.6 ENST00000257765.7 ENST00000257765.8 ENST00000257765.9 KHDC1_HUMAN NM_030568 Q4VXA5 Q5JSQ7 Q8WTV2 Q96NQ5 uc003pgn.1 uc003pgn.2 uc003pgn.3 uc003pgn.4 uc003pgn.5 uc003pgn.6 Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q4VXA5-1; Sequence=Displayed; Name=2; IsoId=Q4VXA5-2; Sequence=VSP_029543; Belongs to the KHDC1 family. Contains 1 KH domain. Sequence=BAB70824.1; Type=Miscellaneous discrepancy; Note=Cloning artifact; RNA binding cytoplasm activation of cysteine-type endopeptidase activity involved in apoptotic process membrane integral component of membrane uc003pgn.1 uc003pgn.2 uc003pgn.3 uc003pgn.4 uc003pgn.5 uc003pgn.6 
ENST00000257770.8 NT5E ENST00000257770.8 Homo sapiens 5'-nucleotidase ecto (NT5E), transcript variant 1, mRNA. (from RefSeq NM_002526) 5NTD_HUMAN B3KQI8 ENST00000257770.1 ENST00000257770.2 ENST00000257770.3 ENST00000257770.4 ENST00000257770.5 ENST00000257770.6 ENST00000257770.7 NM_002526 NT5 NTE O75520 P21589 Q5W116 uc003pko.1 uc003pko.2 uc003pko.3 uc003pko.4 uc003pko.5 uc003pko.6 The protein encoded by this gene is a plasma membrane protein that catalyzes the conversion of extracellular nucleotides to membrane-permeable nucleosides. The encoded protein is used as a determinant of lymphocyte differentiation. Defects in this gene can lead to the calcification of joints and arteries. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]. Hydrolyzes extracellular nucleotides into membrane permeable nucleosides. A 5'-ribonucleotide + H(2)O = a ribonucleoside + phosphate. Zinc. Homodimer; disulfide-linked. Cell membrane; Lipid-anchor, GPI-anchor. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P21589-1; Sequence=Displayed; Name=2; IsoId=P21589-2; Sequence=VSP_043076; Note=No experimental confirmation available; Defects in NT5E are the cause of calcification of joints and arteries (CALJA) [MIM:211800]. A condition characterized by adult-onset calcification of the lower extremity arteries, including the iliac, femoral and tibial arteries, and hand and foot capsule joints. Age of onset has been reported as early as the second decade of life, usually involving intense joint pain or calcification in the hands. Belongs to the 5'-nucleotidase family. nucleotide binding nucleoplasm cytosol plasma membrane purine nucleotide catabolic process AMP catabolic process DNA metabolic process leukocyte cell-cell adhesion 5'-nucleotidase activity nucleotide catabolic process cell surface membrane dephosphorylation hydrolase activity hydrolase activity, acting on ester bonds NAD metabolic process anchored component of membrane adenosine biosynthetic process pyrimidine nucleoside catabolic process metal ion binding negative regulation of inflammatory response extracellular exosome uc003pko.1 uc003pko.2 uc003pko.3 uc003pko.4 uc003pko.5 uc003pko.6 
ENST00000257776.5 MRAP2 ENST00000257776.5 Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), transcript variant 1, mRNA. (from RefSeq NM_138409) A8K9M1 C6orf117 ENST00000257776.1 ENST00000257776.2 ENST00000257776.3 ENST00000257776.4 MRAP2_HUMAN NM_138409 Q8IXM9 Q8N2D1 Q96G30 uc003pkg.1 uc003pkg.2 uc003pkg.3 uc003pkg.4 uc003pkg.5 uc003pkg.6 This gene encodes a protein that modulates melanocortin receptor signaling. The encoded protein has been shown to interact with all known melanocortin receptors and may regulate both receptor trafficking and activation in response to ligands. Mice lacking a functional copy of this gene exhibit severe obesity and a mutation in this gene may be associated with severe obesity in human patients. [provided by RefSeq, Oct 2016]. protein binding endoplasmic reticulum endoplasmic reticulum membrane plasma membrane energy reserve metabolic process feeding behavior membrane integral component of membrane receptor regulator activity corticotropin hormone receptor binding type 3 melanocortin receptor binding type 4 melanocortin receptor binding type 5 melanocortin receptor binding identical protein binding type 1 melanocortin receptor binding protein localization to plasma membrane energy homeostasis negative regulation of protein localization to plasma membrane uc003pkg.1 uc003pkg.2 uc003pkg.3 uc003pkg.4 uc003pkg.5 uc003pkg.6 
ENST00000257787.6 AKIRIN2 ENST00000257787.6 Homo sapiens akirin 2 (AKIRIN2), mRNA. (from RefSeq NM_018064) AKIR2_HUMAN C6orf166 ENST00000257787.1 ENST00000257787.2 ENST00000257787.3 ENST00000257787.4 ENST00000257787.5 NM_018064 Q53H80 Q9BQB1 uc003pmk.1 uc003pmk.2 uc003pmk.3 uc003pmk.4 uc003pmk.5 Required for the innate immune response. Downstream effector of the Toll-like receptor (TLR), TNF and IL-1 beta signaling pathways leading to the production of IL-6. Forms a complex with YWHAB that acts to repress transcription of DUSP1 (By similarity). Interacts with YWHAB (By similarity). Nucleus. Widely expressed with the highest expression in peripheral blood leukocytes. 'Akiraka ni suru' means 'making things clear' in Japanese. The name is given based on the presence of the clear nuclear localization signal. Belongs to the akirin family. negative regulation of transcription from RNA polymerase II promoter immune system process protein binding nucleus nucleoplasm multicellular organism development positive regulation of cell proliferation embryo development ending in birth or egg hatching negative regulation of gene expression positive regulation of endopeptidase activity transcriptional repressor complex enzyme binding response to lipopolysaccharide positive regulation of interleukin-6 production innate immune response negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter uc003pmk.1 uc003pmk.2 uc003pmk.3 uc003pmk.4 uc003pmk.5 
ENST00000257829.8 NAT10 ENST00000257829.8 Homo sapiens N-acetyltransferase 10 (NAT10), transcript variant 1, mRNA. (from RefSeq NM_024662) ALP ENST00000257829.1 ENST00000257829.2 ENST00000257829.3 ENST00000257829.4 ENST00000257829.5 ENST00000257829.6 ENST00000257829.7 KIAA1709 NAT10_HUMAN NM_024662 Q86WK5 Q9C0F4 Q9H0A0 Q9HA61 Q9NVF2 uc001mvk.1 uc001mvk.2 uc001mvk.3 uc001mvk.4 uc001mvk.5 The protein encoded by this gene is an RNA cytidine acetyltransferase involved in histone acetylation, tRNA acetylation, the biosynthesis of 18S rRNA, and the enhancement of nuclear architecture and chromatin organization. [provided by RefSeq, Oct 2016]. Has protein acetyltransferase activity in vitro. Can acetylate both histones and microtubules. Histone acetylation may regulate transcription and mitotic chromosome de-condensation. Activates telomerase activity by stimulating the transcription of TERT, and may also regulate telomerase function by affecting the balance of telomerase subunit assembly, disassembly, and localization. Acetylates alpha-tubulin, which may affect microtubule stability and cell division. Interacts with SUN1 (via N-terminus). Also interacts with TERT. Q9NX58:LYAR; NbExp=1; IntAct=EBI-876527, EBI-713507; Nucleus, nucleolus. Note=Nucleolar in interphase and redistributes to the perichromosomal layer and to the midbody during telophase. Transcriptionally activated by genotoxic agents; possible role in DNA damage and induction of cellular resistance to genotoxic agents. Belongs to the UPF0202 family. Contains 1 N-acetyltransferase domain. Sequence=AAO49126.1; Type=Frameshift; Positions=981; Sequence=BAB21800.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; rRNA modification nucleotide binding nuclear chromosome, telomeric region RNA binding protein binding ATP binding nucleus nucleoplasm telomerase holoenzyme complex nucleolus rRNA processing tRNA processing N-acetyltransferase activity membrane rRNA metabolic process transferase activity transferase activity, transferring acyl groups midbody negative regulation of telomere maintenance via telomerase ncRNA processing ribosomal small subunit biogenesis positive regulation of translation tRNA acetylation DNA polymerase binding rRNA acetylation involved in maturation of SSU-rRNA rRNA cytidine N-acetyltransferase activity uc001mvk.1 uc001mvk.2 uc001mvk.3 uc001mvk.4 uc001mvk.5 
ENST00000257831.8 EHF ENST00000257831.8 Homo sapiens ETS homologous factor (EHF), transcript variant 20, non-coding RNA. (from RefSeq NR_165390) D3DR08 D3DR10 EHF_HUMAN ENST00000257831.1 ENST00000257831.2 ENST00000257831.3 ENST00000257831.4 ENST00000257831.5 ENST00000257831.6 ENST00000257831.7 ESE3 ESE3B ESEJ NR_165390 Q9H509 Q9NZC4 Q9UKF9 Q9Y5V4 Q9Y5V5 uc001mvr.1 uc001mvr.2 uc001mvr.3 uc001mvr.4 This gene encodes a protein that belongs to an ETS transcription factor subfamily characterized by epithelial-specific expression (ESEs). The encoded protein acts as a transcriptional repressor and may be involved in epithelial differentiation and carcinogenesis. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 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. Transcriptional activator that may play a role in regulating epithelial cell differentiation and proliferation. May act as a repressor for a specific subset of ETS/AP-1-responsive genes and as a modulator of the nuclear response to mitogen- activated protein kinase signaling cascades. Binds to DNA sequences containing the consensus nucleotide core sequence GGAA. Involved in regulation of TNFRSF10B/DR5 expression through Ets- binding sequences on the TNFRSF10B/DR5 promoter. May contribute to development and carcinogenesis by acting as a tumor suppressor gene or anti-oncogene. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=ESE-3B; IsoId=Q9NZC4-1; Sequence=Displayed; Name=2; Synonyms=ESE-3A; IsoId=Q9NZC4-2; Sequence=VSP_052190; Expressed exclusively in tissues with a high content of epithelial cells. Highly expressed in salivary gland, mammary gland, prostate, and lung. Weakly expressed in kidney and colon. Not detected in heart, brain, placenta, liver, skeletal muscle, spleen, thymus, testis, ovary, small intestine or peripheral blood leukocytes. By IL1B/interleukin-1 beta and TNF in bronchial smooth muscle cells and fibroblasts. By IL10/interleukin-10 and IFNG/IFN- gamma in monocyte-derived dendritic cells. The PNT domain acts as a transcriptional activator (By similarity). Belongs to the ETS family. Contains 1 ETS DNA-binding domain. Contains 1 PNT (pointed) 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 nucleus nucleoplasm Golgi apparatus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter multicellular organism development cell proliferation cell differentiation epithelial cell differentiation sequence-specific DNA binding positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter epithelial cell proliferation uc001mvr.1 uc001mvr.2 uc001mvr.3 uc001mvr.4 
ENST00000257832.7 ELF5 ENST00000257832.7 Homo sapiens E74 like ETS transcription factor 5 (ELF5), transcript variant 2, mRNA. (from RefSeq NM_001422) A8K452 ELF5_HUMAN ENST00000257832.1 ENST00000257832.2 ENST00000257832.3 ENST00000257832.4 ENST00000257832.5 ENST00000257832.6 ESE2 NM_001422 O95175 Q8N2K9 Q96QY3 Q9UKW5 Q9UKW6 uc001mvp.1 uc001mvp.2 uc001mvp.3 uc001mvp.4 The protein encoded by this gene is a member of an epithelium-specific subclass of the Ets transcritpion factor family. In addition to its role in regulating the later stages of terminal differentiation of keratinocytes, it appears to regulate a number of epithelium-specific genes found in tissues containing glandular epithelium such as salivary gland and prostate. It has very low affinity to DNA due to its negative regulatory domain at the amino terminus. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011]. Transcriptionally activator that may play a role in regulating the later stages of keratinocytes terminal differentiation. Isoform 2 binds to DNA sequences containing the consensus nucleotide core sequence GGA[AT]. Transcriptionally activates SPRR2A and the parotid gland-specific PSP promoters. Nucleus (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=ESE-2a; IsoId=Q9UKW6-1; Sequence=Displayed; Name=2; Synonyms=ESE-2b; IsoId=Q9UKW6-2; Sequence=VSP_014510; Name=3; IsoId=Q9UKW6-3; Sequence=VSP_014510, VSP_014511, VSP_014512; Note=No experimental confirmation available; Expressed exclusively in tissues with a high content of epithelial cells. Highly expressed in salivary gland, mammary gland, kidney and prostate. Weakly expressed in placenta and lung. Isoform 1 and isoform 2 are differentially expressed in different tissues. In the kidney, only isoform 1 was expressed, while prostate expressed both isoforms, with levels of isoform 2 being higher. Expression is up-regulated during keratinocyte differentiation. Several epithelial carcinoma cell lines showed lack of expression. The PNT domain acts as a transcriptional activator (By similarity). Belongs to the ETS family. Contains 1 ETS DNA-binding domain. Contains 1 PNT (pointed) domain. nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding ectodermal cell fate commitment DNA binding transcription factor activity, sequence-specific DNA binding nucleus cytoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter ectoderm development cell differentiation somatic stem cell population maintenance sequence-specific DNA binding negative regulation of cell differentiation positive regulation of transcription from RNA polymerase II promoter mammary gland epithelial cell differentiation uc001mvp.1 uc001mvp.2 uc001mvp.3 uc001mvp.4 
ENST00000257836.4 PRRG4 ENST00000257836.4 Homo sapiens proline rich and Gla domain 4 (PRRG4), mRNA. (from RefSeq NM_024081) ENST00000257836.1 ENST00000257836.2 ENST00000257836.3 NM_024081 PRGP4 Q9BZD6 TMG4 TMG4_HUMAN uc001mtx.1 uc001mtx.2 uc001mtx.3 uc001mtx.4 uc001mtx.5 Membrane; Single-pass type I membrane protein. Expressed in lung, liver, kidney, pancreas and placenta. Gla residues are produced after subsequent post-translational modifications of glutamate by a vitamin K-dependent gamma- carboxylase. Contains 1 Gla (gamma-carboxy-glutamate) domain. molecular_function calcium ion binding extracellular region biological_process membrane integral component of membrane endoplasmic reticulum-Golgi intermediate compartment membrane uc001mtx.1 uc001mtx.2 uc001mtx.3 uc001mtx.4 uc001mtx.5 
ENST00000257860.9 PRPH ENST00000257860.9 Homo sapiens peripherin (PRPH), mRNA. (from RefSeq NM_006262) ENST00000257860.1 ENST00000257860.2 ENST00000257860.3 ENST00000257860.4 ENST00000257860.5 ENST00000257860.6 ENST00000257860.7 ENST00000257860.8 NEF4 NM_006262 P41219 PERI_HUMAN PRPH1 Q8N577 uc001rtu.1 uc001rtu.2 uc001rtu.3 uc001rtu.4 uc001rtu.5 This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC032703.1, AK125587.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000257860.9/ ENSP00000257860.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Class-III neuronal intermediate filament protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P41219-1; Sequence=Displayed; Name=2; IsoId=P41219-2; Sequence=VSP_021159; Note=No experimental confirmation available. Gene prediction based on similarity to orthologs; Belongs to the intermediate filament family. Name=Wikipedia; Note=Peripherin entry; URL="http://en.wikipedia.org/wiki/Peripherin"; structural molecule activity protein binding intermediate filament membrane type III intermediate filament intermediate filament cytoskeleton organization extracellular exosome uc001rtu.1 uc001rtu.2 uc001rtu.3 uc001rtu.4 uc001rtu.5 
ENST00000257863.9 AMHR2 ENST00000257863.9 Homo sapiens anti-Mullerian hormone receptor type 2 (AMHR2), transcript variant 1, mRNA. (from RefSeq NM_020547) A0AVE1 AMHR AMHR2_HUMAN B9EGB7 ENST00000257863.1 ENST00000257863.2 ENST00000257863.3 ENST00000257863.4 ENST00000257863.5 ENST00000257863.6 ENST00000257863.7 ENST00000257863.8 MISR2 NM_020547 Q13762 Q16671 uc001scx.1 uc001scx.2 uc001scx.3 This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009]. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for anti-Muellerian hormone. ATP + [receptor-protein] = ADP + [receptor- protein] phosphate. Magnesium or manganese (By similarity). Membrane; Single-pass type I membrane protein. Defects in AMHR2 are the cause of persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]. PMDS2 is a form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. Contains 1 protein kinase domain. Name=Wikipedia; Note=Anti-Mullerian hormone entry; URL="http://en.wikipedia.org/wiki/Anti-m%C3%BCllerian_hormone"; nucleotide binding Mullerian duct regression protein kinase activity protein serine/threonine kinase activity transmembrane receptor protein serine/threonine kinase activity transforming growth factor beta-activated receptor activity transforming growth factor beta receptor activity, type II protein binding ATP binding plasma membrane integral component of plasma membrane protein phosphorylation transmembrane receptor protein serine/threonine kinase signaling pathway transforming growth factor beta receptor signaling pathway pattern specification process sex differentiation male gonad development female gonad development membrane integral component of membrane kinase activity phosphorylation transferase activity growth factor binding BMP signaling pathway hormone binding receptor complex SMAD binding metal ion binding anti-Mullerian hormone signaling pathway anti-Mullerian hormone receptor activity uc001scx.1 uc001scx.2 uc001scx.3 
ENST00000257867.5 LACRT ENST00000257867.5 Homo sapiens lacritin (LACRT), mRNA. (from RefSeq NM_033277) ENST00000257867.1 ENST00000257867.2 ENST00000257867.3 ENST00000257867.4 LACRT_HUMAN NM_033277 Q9GZZ8 uc001sgi.1 uc001sgi.2 uc001sgi.3 The protein encoded by this gene is highly expressed in the lacrimal glands and localized primarily to secretory granules and secretory fluid. It augments lacrimal acinar cell secretion, promotes ductal cell proliferation, and stimulates signaling through tyrosine phosphorylation and release of calcium. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: CD724194.1, BC062217.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMN03465412 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000257867.5/ ENSP00000257867.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Modulates secretion by lacrimal acinar cells. Secreted. Expressed in secretory granules of many acinar cells in lacrimal gland and in scattered acinar cells of salivary glands. fibronectin binding protein binding collagen binding extracellular region extracellular space protein acetylation growth factor activity positive regulation of cell proliferation epithelial structure maintenance positive regulation of macroautophagy calcium-mediated signaling secretory granule negative regulation of lipopolysaccharide-mediated signaling pathway calcineurin-NFAT signaling cascade protein localization to Golgi apparatus defense response to bacterium negative regulation of apoptotic process laminin-1 binding protein N-terminus binding positive regulation of epithelial cell proliferation positive regulation of peptidyl-tyrosine phosphorylation positive regulation of calcium-mediated signaling positive regulation of secretion positive regulation of release of sequestered calcium ion into cytosol positive regulation of epithelial cell proliferation involved in wound healing tear secretion positive regulation of calcineurin-NFAT signaling cascade uc001sgi.1 uc001sgi.2 uc001sgi.3 
ENST00000257868.10 GDF11 ENST00000257868.10 Homo sapiens growth differentiation factor 11 (GDF11), mRNA. (from RefSeq NM_005811) BMP11 ENST00000257868.1 ENST00000257868.2 ENST00000257868.3 ENST00000257868.4 ENST00000257868.5 ENST00000257868.6 ENST00000257868.7 ENST00000257868.8 ENST00000257868.9 GDF11_HUMAN NM_005811 O95390 Q9UID1 Q9UID2 uc001shq.1 uc001shq.2 uc001shq.3 uc001shq.4 uc001shq.5 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein plays a role in the development of the nervous and other organ systems, and may regulate aging. [provided by RefSeq, Aug 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF100907.1, SRR1163657.417516.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000257868.10/ ENSP00000257868.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Secreted signal that acts globally to specify positional identity along the anterior/posterior axis during development. Play critical roles in patterning both mesodermal and neural tissues and in establishing the skeletal pattern. Homodimer; disulfide-linked (By similarity). Secreted (Probable). Belongs to the TGF-beta family. skeletal system development metanephros development ureteric bud development cytokine activity transforming growth factor beta receptor binding protein binding extracellular region extracellular space nucleoplasm nervous system development mesoderm development growth factor activity negative regulation of cell proliferation animal organ morphogenesis anterior/posterior pattern specification positive regulation of pathway-restricted SMAD protein phosphorylation spinal cord anterior/posterior patterning pancreas development macromolecular complex regulation of apoptotic process intracellular membrane-bounded organelle regulation of MAPK cascade negative regulation of cell differentiation negative regulation of neuron differentiation cell development cell maturation camera-type eye morphogenesis palate development SMAD protein signal transduction uc001shq.1 uc001shq.2 uc001shq.3 uc001shq.4 uc001shq.5 
ENST00000257894.2 FAM186B ENST00000257894.2 Homo sapiens family with sequence similarity 186 member B (FAM186B), transcript variant 1, mRNA. (from RefSeq NM_032130) C12orf25 ENST00000257894.1 F186B_HUMAN NM_032130 Q8IYM0 Q8TCP7 Q9H0L3 uc001ruo.1 uc001ruo.2 uc001ruo.3 uc001ruo.4 This gene product is a member of the FAM186 family, however, its exact function is not known. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]. Belongs to the FAM186 family. macromolecular complex uc001ruo.1 uc001ruo.2 uc001ruo.3 uc001ruo.4 
ENST00000257895.10 RDH5 ENST00000257895.10 Homo sapiens retinol dehydrogenase 5 (RDH5), transcript variant 2, mRNA. (from RefSeq NM_002905) ENST00000257895.1 ENST00000257895.2 ENST00000257895.3 ENST00000257895.4 ENST00000257895.5 ENST00000257895.6 ENST00000257895.7 ENST00000257895.8 ENST00000257895.9 NM_002905 O00179 Q8TAI2 Q92781 RDH1 RDH1_HUMAN uc001shk.1 uc001shk.2 uc001shk.3 uc001shk.4 uc001shk.5 This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010]. Stereospecific 11-cis retinol dehydrogenase, which catalyzes the final step in the biosynthesis of 11-cis retinaldehyde, the universal chromophore of visual pigments. Also able to oxidize 9-cis-retinol and 13-cis-retinol, but not all- trans-retinol. Active in the presence of NAD as cofactor but not in the presence of NADP. 11-cis-retinol-[retinal-binding-protein] + NAD(+) = 11-cis-retinal-[retinol-binding-protein] + NADH. Inhibited by 9-cis-, 13-cis- and all-trans- retinoic acids, with the most potent inhibitor being 13-cis- retinoic acid. Weakly inhibited by oleic acid. pH dependence: Optimum pH is 7.5-8.0 for 9-cis retinol dehydrogenase activity; Cofactor metabolism; retinol metabolism. Homodimer. Membrane; Peripheral membrane protein. Endoplasmic reticulum lumen. Abundant in the retinal pigment epithelium. Expressed at high levels in mammary tissue, kidney and testis, and at lower levels in liver, heart, adrenal gland, lung, pancreas and skeletal muscle. Defects in RDH5 are a cause of retinitis punctata albescens (RPA) [MIM:136880]; also known as fundus albipunctatus (FA). RPA is a rare form of stationary night blindness characterized by a delay in the regeneration of cone and rod photopigments. Belongs to the short-chain dehydrogenases/reductases (SDR) family. Name=Mutations of the RDH5 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/rdh5mut.htm"; retinoid metabolic process retinol dehydrogenase activity endoplasmic reticulum endoplasmic reticulum lumen endoplasmic reticulum membrane lipid metabolic process visual perception steroid metabolic process membrane integral component of membrane oxidoreductase activity retinol metabolic process protein homodimerization activity cell body androsterone dehydrogenase activity androstan-3-alpha,17-beta-diol dehydrogenase activity response to stimulus oxidation-reduction process uc001shk.1 uc001shk.2 uc001shk.3 uc001shk.4 uc001shk.5 
ENST00000257901.7 KRT85 ENST00000257901.7 Homo sapiens keratin 85 (KRT85), transcript variant 1, mRNA. (from RefSeq NM_002283) ENST00000257901.1 ENST00000257901.2 ENST00000257901.3 ENST00000257901.4 ENST00000257901.5 ENST00000257901.6 KRT85_HUMAN KRTHB5 NM_002283 P78386 Q9NSB1 uc001sag.1 uc001sag.2 uc001sag.3 uc001sag.4 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. [provided by RefSeq, Jul 2008]. Heterotetramer of two type I and two type II keratins. Synthesis occurs immediately above a small population of matrix cells at the base of the hair bulb and the trichocytes lining the dermal papilla and extends upward through the matrix and ends in the lower part of the cortex of the hair shaft. Defects in KRT85 are the cause of ectodermal dysplasia pure hair-nail type (EDPHN) [MIM:602032]. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDPHN is characterized by complete alopecia, hypotricosis and nail dystrophy in all digits. There is no evidence of any other abnormality. Inheritance can be autosomal dominant or recessive. 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 epidermis development keratinization keratin filament cornification uc001sag.1 uc001sag.2 uc001sag.3 uc001sag.4 
ENST00000257904.11 CDK4 ENST00000257904.11 Homo sapiens cyclin dependent kinase 4 (CDK4), mRNA. (from RefSeq NM_000075) CDK4_HUMAN ENST00000257904.1 ENST00000257904.10 ENST00000257904.2 ENST00000257904.3 ENST00000257904.4 ENST00000257904.5 ENST00000257904.6 ENST00000257904.7 ENST00000257904.8 ENST00000257904.9 NM_000075 O00576 P11802 Q6FG61 uc001spv.1 uc001spv.2 uc001spv.3 uc001spv.4 uc001spv.5 The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is highly similar to the gene products of S. cerevisiae cdc28 and S. pombe cdc2. It is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression. The activity of this kinase is restricted to the G1-S phase, which is controlled by the regulatory subunits D-type cyclins and CDK inhibitor p16(INK4a). This kinase was shown to be responsible for the phosphorylation of retinoblastoma gene product (Rb). Mutations in this gene as well as in its related proteins including D-type cyclins, p16(INK4a) and Rb were all found to be associated with tumorigenesis of a variety of cancers. Multiple polyadenylation sites of this gene have been reported. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.53469.1, SRR1163658.534659.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000257904.11/ ENSP00000257904.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Ser/Thr-kinase component of cyclin D-CDK4 (DC) complexes that phosphorylate and inhibit members of the retinoblastoma (RB) protein family including RB1 and regulate the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complexes and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also phosphorylates SMAD3 in a cell-cycle-dependent manner and represses its transcriptional activity. Component of the ternary complex, cyclin D/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex. ATP + a protein = ADP + a phosphoprotein. Both phosphorylation at Thr-172 and binding of a D-type cyclin are necessary for enzymatic activity. Full activation of the cyclin-D-CDK4 complex appears to require other factors such as recruitment of the substrate via a substrate recruitment motif, and/or formation of the CDKN1B ternary complex. Inhibited by INK4 family members. In resting cells, the non- tyrosine-phosphorylated form of CDKN1B prevents phosphorylation at Thr-172 and inactivation, while, in proliferating cells, tyrosine phosphorylation of CDKN1B allows phosphorylation of Thr-172 of CDK4 and subsequennt activation. Component of the D-CDK4 complex, composed of CDK4 and some D-type G1 cyclin (CCND1, CCND2 or CCND3). Interacts directly in the complex with CCND1, CCND2 or CCND3. Interacts with SEI1 and ZNF655. Forms a ternary complex, cyclin D-CDK4-CDKN1B, involved in modulating CDK4 enzymatic activity. Interacts directly with CDKN1B (phosphorylated on 'Tyr-88' and 'Tyr-89'); the interaction allows assembly of the cyclin D-CDK4 complex, Thr-172 phosphorylation, nuclear translocation and enhances the cyclin D-CDK4 complex activity. CDK4 activity is either inhibited or enhanced depending on stoichiometry of complex. The non-tyrosine-phosphorylated form of CDKN1B prevents T-loop phosphosphorylation of CDK4 producing inactive CDK4. Interacts (unphosphorylated form) with CDK2. Also forms ternary complexes with CDKN1A or CDKN2A. Interacts directly with CDKN1A (via its N-terminal); the interaction promotes the assembly of the cyclin D-CDK4 complex, its nuclear translocation and promotes the cyclin D-dependent enzyme activity of CDK4. P24385:CCND1; NbExp=10; IntAct=EBI-295644, EBI-375001; P30281:CCND3; NbExp=6; IntAct=EBI-295644, EBI-375013; Q16543:CDC37; NbExp=5; IntAct=EBI-295644, EBI-295634; P38936:CDKN1A; NbExp=4; IntAct=EBI-295644, EBI-375077; P46527:CDKN1B; NbExp=2; IntAct=EBI-295644, EBI-519280; P42771:CDKN2A; NbExp=7; IntAct=EBI-295644, EBI-375053; P42772:CDKN2B; NbExp=3; IntAct=EBI-295644, EBI-711280; P01106:MYC; NbExp=2; IntAct=EBI-295644, EBI-447544; P28749:RBL1; NbExp=2; IntAct=EBI-295644, EBI-971402; Q8N720:ZNF655; NbExp=3; IntAct=EBI-295644, EBI-625509; Cytoplasm. Nucleus. Membrane. Note=Cytoplasmic when non-complexed. Forms a cyclin D-CDK4 complex in the cytoplasm as cells progress through G(1) phase. The complex accumulates on the nuclear membrane and enters the nucleus on transition from G(1) to S phase. Also present in nucleoli and heterochromatin lumps. Colocalizes with RB1 after release into the nucleus. Phosphorylation at Thr-172 is required for enzymatic activity. Phosphorylated, in vitro, at this site by CCNH-CDK7, but, in vivo, appears to be phosphorylated by a proline-directed kinase. In the cyclin D-CDK4-CDKN1B complex, this phosphorylation and consequent CDK4 enzyme activity, is dependent on the tyrosine phosphorylation state of CDKN1B. Thus, in proliferating cells, CDK4 within the complex is phosphorylated on Thr-172 in the T- loop. In resting cells, phosphorylation on Thr-172 is prevented by the non-tyrosine-phosphorylated form of CDKN1B. Defects in CDK4 are a cause of susceptibility to cutaneous malignant melanoma type 3 (CMM3) [MIM:609048]. Malignant melanoma is a malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. Contains 1 protein kinase domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CDK4ID238ch12q14.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CDK4"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cdk4/"; regulation of cyclin-dependent protein serine/threonine kinase activity G1/S transition of mitotic cell cycle nucleotide binding cyclin-dependent protein kinase holoenzyme complex chromatin lens development in camera-type eye protein kinase activity protein serine/threonine kinase activity cyclin-dependent protein serine/threonine kinase activity protein binding ATP binding nucleus nucleoplasm transcription factor complex nucleolus cytoplasm cytosol bicellular tight junction transcription initiation from RNA polymerase II promoter protein phosphorylation cell cycle signal transduction circadian rhythm positive regulation of cell proliferation response to toxic substance response to organic substance response to lead ion regulation of gene expression positive regulation of G2/M transition of mitotic cell cycle membrane kinase activity phosphorylation cyclin-dependent protein serine/threonine kinase regulator activity transferase activity cyclin binding animal organ regeneration nuclear membrane cellular response to insulin stimulus macromolecular complex response to testosterone regulation of multicellular organism growth regulation of cell proliferation response to drug positive regulation of apoptotic process macromolecular complex binding positive regulation of translation positive regulation of cell cycle positive regulation of cell size regulation of insulin receptor signaling pathway regulation of lipid biosynthetic process positive regulation of fibroblast proliferation perinuclear region of cytoplasm regulation of lipid catabolic process cell division regulation of cell cycle response to hyperoxia adipose tissue development negative regulation of cell cycle arrest cellular response to lipopolysaccharide cellular response to interleukin-4 cyclin D2-CDK4 complex cellular response to phorbol 13-acetate 12-myristate cellular response to ionomycin negative regulation of G1/S transition of mitotic cell cycle uc001spv.1 uc001spv.2 uc001spv.3 uc001spv.4 uc001spv.5 
ENST00000257905.13 PPP1R1A ENST00000257905.13 Homo sapiens protein phosphatase 1 regulatory inhibitor subunit 1A (PPP1R1A), mRNA. (from RefSeq NM_006741) ENST00000257905.1 ENST00000257905.10 ENST00000257905.11 ENST00000257905.12 ENST00000257905.2 ENST00000257905.3 ENST00000257905.4 ENST00000257905.5 ENST00000257905.6 ENST00000257905.7 ENST00000257905.8 ENST00000257905.9 IPP1 NM_006741 PPR1A_HUMAN Q13522 Q6IB01 Q8TBJ2 Q8WWV2 uc001sgg.1 uc001sgg.2 uc001sgg.3 uc001sgg.4 Inhibitor of protein-phosphatase 1. This protein may be important in hormonal control of glycogen metabolism. Hormones that elevate intracellular cAMP increase I-1 activity in many tissues. I-1 activation may impose cAMP control over proteins that are not directly phosphorylated by PKA. Following a rise in intracellular calcium, I-1 is inactivated by calcineurin (or PP2B). Does not inhibit type-2 phosphatases. Interacts with PPP1R15A. O75807:PPP1R15A; NbExp=4; IntAct=EBI-1568511, EBI-714746; Phosphorylation of Thr-35 is required for activity. Belongs to the protein phosphatase inhibitor 1 family. protein phosphatase inhibitor activity protein serine/threonine phosphatase inhibitor activity protein binding extracellular space cytoplasm carbohydrate metabolic process glycogen metabolic process signal transduction negative regulation of phosphoprotein phosphatase activity intracellular signal transduction uc001sgg.1 uc001sgg.2 uc001sgg.3 uc001sgg.4 
ENST00000257909.8 TROAP ENST00000257909.8 Homo sapiens trophinin associated protein (TROAP), transcript variant 1, mRNA. (from RefSeq NM_005480) ENST00000257909.1 ENST00000257909.2 ENST00000257909.3 ENST00000257909.4 ENST00000257909.5 ENST00000257909.6 ENST00000257909.7 NM_005480 Q12815 Q6PJU7 Q8N5B2 TROAP_HUMAN uc001rtx.1 uc001rtx.2 uc001rtx.3 uc001rtx.4 uc001rtx.5 uc001rtx.6 Could be involved with bystin and trophinin 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 binds bystin, and indirectly trophinin. Q13895:BYSL; NbExp=9; IntAct=EBI-2349743, EBI-358049; Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q12815-1; Sequence=Displayed; Name=2; IsoId=Q12815-2; Sequence=VSP_042820, VSP_042821; Note=No experimental confirmation available; Strong expression at implantation sites. Was exclusively localized to the apical side of the syncytiotrophoblast. Also found in macrophages. protein binding cytoplasm cell adhesion uc001rtx.1 uc001rtx.2 uc001rtx.3 uc001rtx.4 uc001rtx.5 uc001rtx.6 
ENST00000257910.8 TSPAN31 ENST00000257910.8 Homo sapiens tetraspanin 31 (TSPAN31), transcript variant 1, mRNA. (from RefSeq NM_005981) ENST00000257910.1 ENST00000257910.2 ENST00000257910.3 ENST00000257910.4 ENST00000257910.5 ENST00000257910.6 ENST00000257910.7 NM_005981 O00577 Q12999 Q53X76 SAS TSN31_HUMAN uc001spt.1 uc001spt.2 uc001spt.3 uc001spt.4 uc001spt.5 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is thought to be involved in growth-related cellular processes. This gene is associated with tumorigenesis and osteosarcoma. [provided by RefSeq, Jul 2008]. Membrane; Multi-pass membrane protein. Belongs to the tetraspanin (TM4SF) family. integral component of plasma membrane positive regulation of cell proliferation membrane integral component of membrane uc001spt.1 uc001spt.2 uc001spt.3 uc001spt.4 uc001spt.5 
ENST00000257915.10 TFCP2 ENST00000257915.10 Homo sapiens transcription factor CP2 (TFCP2), transcript variant 1, mRNA. (from RefSeq NM_005653) A8K5E9 ENST00000257915.1 ENST00000257915.2 ENST00000257915.3 ENST00000257915.4 ENST00000257915.5 ENST00000257915.6 ENST00000257915.7 ENST00000257915.8 ENST00000257915.9 LSF NM_005653 Q12800 Q12801 Q9UD75 Q9UD77 SEF TFCP2_HUMAN uc001rxw.1 uc001rxw.2 uc001rxw.3 uc001rxw.4 uc001rxw.5 This gene encodes a transcription factor that binds the alpha-globin promoter and activates transcription of the alpha-globin gene. The encoded protein regulates erythroid gene expression, plays a role in the transcriptional switch of globin gene promoters, and it activates many other cellular and viral gene promoters. The gene product interacts with certain inflammatory response factors, and polymorphisms of this gene may be involved in the pathogenesis of Alzheimer's disease. [provided by RefSeq, Mar 2010]. Binds a variety of cellular and viral promoters including fibrinogen, alpha-globin, SV40 and HIV-1 promoters. Activation of the alpha-globin promoter in erythroid cells is via synergistic interaction with UBP1 (By similarity). Functions as part of the SSP (stage selector protein) complex. Facilitates the interaction of the gamma-globin genes with enhancer elements contained in the locus control region in fetal erythroid cells. Interacts by binding to the stage selector element (SSE) in the proximal gamma-globin promoter. Binds to DNA as a dimer, isoform 3 does not bind to DNA or affect the binding of isoform 1 to DNA. Interacts with UBP1 and PIAS1, and is probably part of a complex containing TFCP2, UBP1 and PIAS1 (By similarity). Component of the SSP (stage selector protein) complex, which appears to be a heteromer of TFCP2 and 2 copies of NFE4. Nucleus. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=LBP-1c; IsoId=Q12800-1; Sequence=Displayed; Name=2; IsoId=Q12800-2; Sequence=VSP_017647, VSP_017648; Name=3; Synonyms=LBP-1d; IsoId=Q12800-3; Sequence=VSP_017647; Name=4; IsoId=Q12800-4; Sequence=VSP_017648; Ubiquitous. Expressed in brain, ovary, kidney, thymus, spleen, liver, adrenal, heart and lung (at protein level). Expressed in fetal erythroid tissue. In PubMed:8114710 authors noted that a 10-fold molar excess of isoform 3 over isoform 1 inhibited DNA-binding. Belongs to the grh/CP2 family. CP2 subfamily. nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding core promoter proximal region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm cytosol regulation of transcription from RNA polymerase II promoter protein C-terminus binding transcription factor binding macromolecular complex mRNA transcription from RNA polymerase II promoter sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter uc001rxw.1 uc001rxw.2 uc001rxw.3 uc001rxw.4 uc001rxw.5 
ENST00000257934.9 ESPL1 ENST00000257934.9 Homo sapiens extra spindle pole bodies like 1, separase (ESPL1), mRNA. (from RefSeq NM_012291) ENST00000257934.1 ENST00000257934.2 ENST00000257934.3 ENST00000257934.4 ENST00000257934.5 ENST00000257934.6 ENST00000257934.7 ENST00000257934.8 ESP1 ESPL1_HUMAN KIAA0165 NM_012291 Q14674 uc001sck.1 uc001sck.2 uc001sck.3 Stable cohesion between sister chromatids before anaphase and their timely separation during anaphase are critical for chromosome inheritance. In vertebrates, sister chromatid cohesion is released in 2 steps via distinct mechanisms. The first step involves phosphorylation of STAG1 (MIM 604358) or STAG2 (MIM 300826) in the cohesin complex. The second step involves cleavage of the cohesin subunit SCC1 (RAD21; MIM 606462) by ESPL1, or separase, which initiates the final separation of sister chromatids (Sun et al., 2009 [PubMed 19345191]).[supplied by OMIM, Nov 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## CDS exon combination :: AY455930.1 [ECO:0000331] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000257934.9/ ENSP00000257934.4 RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## Caspase-like protease, which plays a central role in the chromosome segregation by cleaving the SCC1/RAD21 subunit of the cohesin complex at the onset of anaphase. During most of the cell cycle, it is inactivated by different mechanisms. All bonds known to be hydrolyzed by this endopeptidase have arginine in P1 and an acidic residue in P4. P6 is often occupied by an acidic residue or by an hydroxy-amino-acid residue, the phosphorylation of which enhances cleavage. Regulated by at least two independent mechanisms. First, it is inactivated via its interaction with securin/PTTG1, which probably covers its active site. The association with PTTG1 is not only inhibitory, since PTTG1 is also required for activating it, the enzyme being inactive in cells in which PTTG1 is absent. PTTG1 degradation at anaphase, liberates it and triggers RAD21 cleavage. Second, phosphorylation at Ser-1126 inactivates it. The complete phosphorylation during mitosis, is removed when cells undergo anaphase. Activation of the enzyme at the metaphase-anaphase transition probably requires the removal of both securin and inhibitory phosphate. Interacts with PTTG1. Interacts with RAD21. Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q14674-1; Sequence=Displayed; Name=2; IsoId=Q14674-2; Sequence=VSP_009361; Note=No experimental confirmation available; Autocleaves. This function, which is not essential for its protease activity, is unknown. Phosphorylated by CDK1. There are 8 Ser/Thr phosphorylation sites. Among them, Ser-1126 phosphorylation is the major site, which conducts to the enzyme inactivation. Belongs to the peptidase C50 family. mitotic sister chromatid segregation meiotic spindle organization mitotic cell cycle mitotic cytokinesis catalytic activity cysteine-type endopeptidase activity protein binding nucleus cytoplasm centrosome cytosol proteolysis apoptotic process chromosome segregation meiosis I peptidase activity cysteine-type peptidase activity hydrolase activity establishment of mitotic spindle localization homologous chromosome segregation positive regulation of mitotic metaphase/anaphase transition negative regulation of sister chromatid cohesion meiotic chromosome separation mitotic spindle uc001sck.1 uc001sck.2 uc001sck.3 
ENST00000257940.7 ZC3H10 ENST00000257940.7 Homo sapiens zinc finger CCCH-type containing 10 (ZC3H10), transcript variant 1, mRNA. (from RefSeq NM_032786) ENST00000257940.1 ENST00000257940.2 ENST00000257940.3 ENST00000257940.4 ENST00000257940.5 ENST00000257940.6 NM_032786 Q96K80 ZC3HA_HUMAN ZC3HDC10 uc001sjp.1 uc001sjp.2 uc001sjp.3 P54253:ATXN1; NbExp=3; IntAct=EBI-742550, EBI-930964; Contains 3 C3H1-type zinc fingers. regulation of alternative mRNA splicing, via spliceosome RNA binding protein binding nucleus nucleoplasm cytoplasm posttranscriptional regulation of gene expression miRNA binding metal ion binding negative regulation of production of miRNAs involved in gene silencing by miRNA uc001sjp.1 uc001sjp.2 uc001sjp.3 
ENST00000257951.3 KRT84 ENST00000257951.3 Homo sapiens keratin 84 (KRT84), mRNA. (from RefSeq NM_033045) B2RA43 ENST00000257951.1 ENST00000257951.2 KRT84_HUMAN KRTHB4 NM_033045 Q6ISB0 Q701L6 Q9NSB2 uc001sah.1 uc001sah.2 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin is contained primarily in the filiform tongue papilla, among other hair keratins. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BC069647.1, AK314030.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968540, SAMEA1968968 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000257951.3/ ENSP00000257951.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Heterotetramer of two type I and two type II keratins. 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. hair follicle development structural constituent of cytoskeleton cytosol intermediate filament cytoskeleton organization structural constituent of epidermis keratinization nail development keratin filament intermediate filament cytoskeleton regulation of keratinocyte differentiation extracellular exosome cornification uc001sah.1 uc001sah.2 
ENST00000257963.9 ACVR1B ENST00000257963.9 Homo sapiens activin A receptor type 1B (ACVR1B), transcript variant 1, mRNA. (from RefSeq NM_004302) ACV1B_HUMAN ACVRLK4 ALK4 B7Z5L8 B7Z5W5 ENST00000257963.1 ENST00000257963.2 ENST00000257963.3 ENST00000257963.4 ENST00000257963.5 ENST00000257963.6 ENST00000257963.7 ENST00000257963.8 NM_004302 P36896 Q15479 Q15480 Q15481 Q15482 uc001rzn.1 uc001rzn.2 uc001rzn.3 uc001rzn.4 uc001rzn.5 This gene encodes an activin A type IB receptor. Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]. Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating a many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, type-2 receptors (ACVR2A and/or ACVR2B) act as a primary activin receptors whereas the type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine- threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor such as ACVR1B. Once activated, the type-1 receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C- terminal tail. Soon after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor. ACVR1B also phosphorylates TDP2. ATP + [receptor-protein] = ADP + [receptor- protein] phosphate. Magnesium or manganese (By similarity). Activin receptor type-2 (ACVR2A or ACVR2B) activates the type-1 receptor through phosphorylation of its regulatory GS domain. Forms an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Interacts with TDP2 (By similarity). Interacts with AIP1, FKBP1A, IGSF1, TDGF1, SMAD2, SMAD3 and SMAD7. Cell membrane; Single-pass type I membrane protein (By similarity). Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=SKR2-1; IsoId=P36896-1; Sequence=Displayed; Name=2; Synonyms=SKR2-2; IsoId=P36896-2; Sequence=VSP_004954; Name=3; Synonyms=SKR2-3; IsoId=P36896-3; Sequence=VSP_004953; Note=Variant in position: 478:R->H; Name=4; IsoId=P36896-4; Sequence=VSP_041842; Name=5; IsoId=P36896-5; Sequence=VSP_041841; Expressed in many tissues, most strongly in kidney, pancreas, brain, lung, and liver. The GS domain is a 30-amino-acid sequence adjacent to the N-terminal boundary of the kinase domain and highly conserved in all other known type-1 receptors but not in type-2 receptors. The GS domain is the site of activation through phosphorylation by the II receptors. Autophosphorylated. Phosphorylated by activin receptor type-2 (ACVR2A or ACVR2B) in response to activin-binding at serine and threonine residues in the GS domain. Phosphorylation of ACVR1B by activin receptor type-2 regulates association with SMAD7. Ubiquitinated. Level of ubiquitination is regulated by the SMAD7-SMURF1 complex. Note=ACVRIB is abundantly expressed in systemic sclerosis patient fibroblasts and production of collagen is also induced by activin-A/INHBA. This suggests that the activin/ACRV1B signaling mechanism is involved in systemic sclerosis. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. Contains 1 GS domain. Contains 1 protein kinase domain. G1/S transition of mitotic cell cycle nucleotide binding in utero embryonic development hair follicle development protein kinase activity protein serine/threonine kinase activity transmembrane receptor protein serine/threonine kinase activity transforming growth factor beta-activated receptor activity transforming growth factor beta receptor activity, type I protein binding ATP binding cytosol plasma membrane integral component of plasma membrane regulation of transcription, DNA-templated protein phosphorylation signal transduction transmembrane receptor protein serine/threonine kinase signaling pathway transforming growth factor beta receptor signaling pathway pattern specification process central nervous system development regulation of signal transduction cell surface positive regulation of gene expression negative regulation of gene expression positive regulation of pathway-restricted SMAD protein phosphorylation membrane integral component of membrane kinase activity phosphorylation activin receptor activity, type I transferase activity peptidyl-threonine phosphorylation growth factor binding negative regulation of cell growth ubiquitin protein ligase binding activin receptor signaling pathway positive regulation of activin receptor signaling pathway inhibin binding nodal signaling pathway receptor complex positive regulation of erythrocyte differentiation positive regulation of transcription from RNA polymerase II promoter SMAD binding development of primary female sexual characteristics protein autophosphorylation metal ion binding activin receptor complex activin binding extrinsic apoptotic signaling pathway positive regulation of trophoblast cell migration activin-activated receptor activity uc001rzn.1 uc001rzn.2 uc001rzn.3 uc001rzn.4 uc001rzn.5 
ENST00000257974.3 KRT82 ENST00000257974.3 Homo sapiens keratin 82 (KRT82), mRNA. (from RefSeq NM_033033) ENST00000257974.1 ENST00000257974.2 KRT82_HUMAN KRTHB2 NM_033033 Q9NSB4 uc001sai.1 uc001sai.2 uc001sai.3 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this keratin appears to be a hair cuticle-specific keratin. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AJ628419.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000257974.3/ ENSP00000257974.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Heterotetramer of two type I and two type II keratins. There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic). Belongs to the intermediate filament family. cytosol intermediate filament biological_process structural constituent of epidermis keratinization keratin filament cornification uc001sai.1 uc001sai.2 uc001sai.3 
ENST00000257981.7 KCNH3 ENST00000257981.7 Homo sapiens potassium voltage-gated channel subfamily H member 3 (KCNH3), transcript variant 1, mRNA. (from RefSeq NM_012284) ENST00000257981.1 ENST00000257981.2 ENST00000257981.3 ENST00000257981.4 ENST00000257981.5 ENST00000257981.6 KCNH3_HUMAN KIAA1282 NM_012284 Q9ULD8 Q9UQ06 uc001ruh.1 uc001ruh.2 uc001ruh.3 The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gene is knocked out. In humans, the encoded protein has been shown to be capable of binding glycoprotein 120 of the human immunodeficiency virus type 1 (HIV-1) envelope. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]. Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward current with fast inactivation. Channel properties may be modulated by cAMP and subunit assembly. The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming alpha subunits that can associate with modulating beta subunits. Membrane; Multi-pass membrane protein. Detected only in brain, in particular in the telencephalon. Detected in the cerebral cortex, occipital pole, frontal and temporal lobe, putamen, amygdala, hippocampus and caudate nucleus. The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv12.2/KCNH3 sub-subfamily. Contains 1 cyclic nucleotide-binding domain. Contains 1 PAC (PAS-associated C-terminal) domain. Contains 1 PAS (PER-ARNT-SIM) domain. Sequence=BAA86596.1; Type=Erroneous initiation; ion channel activity voltage-gated ion channel activity voltage-gated potassium channel activity potassium channel activity protein binding plasma membrane integral component of plasma membrane ion transport potassium ion transport membrane integral component of membrane regulation of ion transmembrane transport regulation of membrane potential transmembrane transport potassium ion transmembrane transport uc001ruh.1 uc001ruh.2 uc001ruh.3 
ENST00000258034.4 TAAR5 ENST00000258034.4 Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA. (from RefSeq NM_003967) D8KZS1 ENST00000258034.1 ENST00000258034.2 ENST00000258034.3 NM_003967 O14804 PNR Q2M1V1 Q4VBL1 Q5VUQ3 Q6NTA8 TAAR5_HUMAN uc003qdk.1 uc003qdk.2 uc003qdk.3 uc003qdk.4 Orphan receptor. Ligands are likely small molecules, either sharing some similarities with trace amine as, e.g. derivatives of indolamines (such as 5-methoxytryptamine) or of phenylethylamines (such as phenylethanolamine) or being any kind of metabolite of amino acids or biogenic amine neurotransmitters. Cell membrane; Multi-pass membrane protein. Expressed almost exclusively in skeletal muscle and selected areas of the brain, such amygdala, hippocampus, caudate nucleus, thalamus and hypothalamus. Weak expression is also find in substantia nigra. Belongs to the G-protein coupled receptor 1 family. trace-amine receptor activity G-protein coupled receptor activity plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway sensory perception of chemical stimulus membrane integral component of membrane trimethylamine receptor activity uc003qdk.1 uc003qdk.2 uc003qdk.3 uc003qdk.4 
ENST00000258042.2 NMBR ENST00000258042.2 Homo sapiens neuromedin B receptor (NMBR), transcript variant 1, mRNA. (from RefSeq NM_002511) E9KL38 ENST00000258042.1 NMBR_HUMAN NM_002511 P28336 Q5VUK8 uc003qiu.1 uc003qiu.2 uc003qiu.3 uc003qiu.4 This gene encodes a 7-transmembrane G protein-coupled receptor that binds neuromedin B, which is a growth factor and mitogen for gastrointestinal epithelial tissue and for normal and neoplastic lung. This receptor may play a role in smooth muscle contraction, neuronal responses, and the regulation of cell growth. Antagonists of this receptor have a potential therapeutic use in inhibiting tumor cell growth. Polymorphisms in this gene may be associated with a susceptibility for schizophrenia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]. Sequence Note:. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## CDS exon combination :: M73482.1, GU727635.1 [ECO:0000331] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on manual assertion, conservation, longest protein ##RefSeq-Attributes-END## Receptor for neuromedin-B. Cell membrane; Multi-pass membrane protein. Expressed in epididymis (at protein level). Belongs to the G-protein coupled receptor 1 family. G-protein coupled receptor activity bombesin receptor activity cytosol plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway phospholipase C-activating G-protein coupled receptor signaling pathway G-protein coupled peptide receptor activity membrane integral component of membrane bombesin receptor signaling pathway uc003qiu.1 uc003qiu.2 uc003qiu.3 uc003qiu.4 
ENST00000258052.8 SMPD2 ENST00000258052.8 Homo sapiens sphingomyelin phosphodiesterase 2 (SMPD2), mRNA. (from RefSeq NM_003080) ENST00000258052.1 ENST00000258052.2 ENST00000258052.3 ENST00000258052.4 ENST00000258052.5 ENST00000258052.6 ENST00000258052.7 NM_003080 NSMA_HUMAN O60906 Q5TED1 Q9BWR3 uc003pti.1 uc003pti.2 uc003pti.3 uc003pti.4 uc003pti.5 This gene encodes a protein which was initially identified as a sphingomyelinase based on sequence similarity between bacterial sphingomyelinases and a yeast protein. Subsequent studies showed that its biological function is less likely to be as a sphingomyelinase and instead as a lysophospholipase. [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 :: SRR3476690.339385.1, AK313515.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000258052.8/ ENSP00000258052.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Converts sphingomyelin to ceramide. Hydrolyze 1-acyl-2- lyso-sn-glycero-3-phosphocholine (lyso-PC) and 1-O-alkyl-2-lyso- sn-glycero-3-phosphocholine (lyso-platelet-activating factor). The physiological substrate seems to be Lyso-PAF. Sphingomyelin + H(2)O = N-acylsphingosine + phosphocholine. Magnesium. pH dependence: Optimum pH is 6.5-7.5; Membrane; Multi-pass membrane protein. Belongs to the neutral sphingomyelinase family. sphingomyelin phosphodiesterase activity plasma membrane integral component of plasma membrane caveola lipid metabolic process sphingolipid metabolic process sphingomyelin metabolic process sphingomyelin catabolic process glycosphingolipid metabolic process response to mechanical stimulus membrane integral component of membrane hydrolase activity intracellular signal transduction ceramide biosynthetic process metal ion binding positive regulation of ceramide biosynthetic process uc003pti.1 uc003pti.2 uc003pti.3 uc003pti.4 uc003pti.5 
ENST00000258080.8 HTRA2 ENST00000258080.8 Homo sapiens HtrA serine peptidase 2 (HTRA2), transcript variant 5, non-coding RNA. (from RefSeq NR_135769) ENST00000258080.1 ENST00000258080.2 ENST00000258080.3 ENST00000258080.4 ENST00000258080.5 ENST00000258080.6 ENST00000258080.7 HTRA2_HUMAN NR_135769 O43464 OMI PRSS25 Q9HBZ4 Q9P0Y3 Q9P0Y4 uc002smi.1 uc002smi.2 uc002smi.3 This gene encodes a serine protease. The protein has been localized in the endoplasmic reticulum and interacts with an alternatively spliced form of mitogen-activated protein kinase 14. The protein has also been localized to the mitochondria with release to the cytosol following apoptotic stimulus. The protein is thought to induce apoptosis by binding the apoptosis inhibitory protein baculoviral IAP repeat-containing 4. Nuclear localization of this protein has also been observed. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.427943.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## Serine protease that shows proteolytic activity against a non-specific substrate beta-casein. Promotes or induces cell death either by direct binding to and inhibition of BIRC proteins (also called inhibitor of apoptosis proteins, IAPs), leading to an increase in caspase activity, or by a BIRC inhibition-independent, caspase-independent and serine protease activity-dependent mechanism. Cleaves THAP5 and promotes its degradation during apoptosis. Isoform 2 seems to be proteolytically inactive. Cleavage of non-polar aliphatic amino-acids at the P1 position, with a preference for Val, Ile and Met. At the P2 and P3 positions, Arg is selected most strongly with a secondary preference for other hydrophilic residues. Homotrimer. Interacts with MXI2. Interacts with THAP5 under apoptotic conditions. The mature protein, but not the precursor, binds to BIRC2/c-IAP1, BIRC3/c-IAP2 and XIAP/BIRC4. Interacts with BIRC6/bruce. Q96CA5:BIRC7; NbExp=2; IntAct=EBI-517086, EBI-517623; P02666:CSN2 (xeno); NbExp=2; IntAct=EBI-517086, EBI-5260183; Q9P0J0:NDUFA13; NbExp=6; IntAct=EBI-517086, EBI-372742; Q60855:Ripk1 (xeno); NbExp=2; IntAct=EBI-517086, EBI-529119; P98170:XIAP; NbExp=10; IntAct=EBI-517086, EBI-517127; Mitochondrion intermembrane space. Mitochondrion membrane; Single-pass membrane protein (Potential). Note=Predominantly present in the intermembrane space. Released into the cytosol following apoptotic stimuli, such as UV treatment, and stimulation of mitochondria with caspase-8 truncated BID/tBID. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=13B; IsoId=O43464-1; Sequence=Displayed; Name=2; Synonyms=D-Omi; IsoId=O43464-2; Sequence=VSP_005359, VSP_005361; Name=3; Synonyms=p7; IsoId=O43464-3; Sequence=VSP_005360, VSP_005361; Name=4; Synonyms=p4; IsoId=O43464-4; Sequence=VSP_005362; Isoform 1 is ubiquitous. Isoform 2 is expressed predominantly in the kidney, colon and thyroid. The mature N-terminus is involved in the interaction with XIAP. The PDZ domain mediates interaction with MXI2. Autoproteolytically activated. Defects in HTRA2 are the cause of Parkinson disease type 13 (PARK13) [MIM:610297]. A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. Belongs to the peptidase S1B family. Contains 1 PDZ (DHR) domain. chromatin serine-type endopeptidase activity protein binding nucleus mitochondrion mitochondrial intermembrane space endoplasmic reticulum endoplasmic reticulum membrane cytosol cytoskeleton proteolysis ceramide metabolic process apoptotic process mitochondrion organization aging adult walking behavior peptidase activity serine-type peptidase activity adult locomotory behavior intrinsic apoptotic signaling pathway in response to DNA damage response to herbicide cytoplasmic side of plasma membrane positive regulation of mitochondrion organization positive regulation of cell death membrane integral component of membrane protein autoprocessing hydrolase activity pentacyclic triterpenoid metabolic process forebrain development mitochondrial membrane cellular response to oxidative stress cellular response to heat cellular response to interferon-beta CD40 receptor complex regulation of multicellular organism growth identical protein binding positive regulation of apoptotic process positive regulation of cysteine-type endopeptidase activity involved in apoptotic process cellular protein catabolic process negative regulation of cell cycle neuron development unfolded protein binding negative regulation of cell death protein homotrimerization cellular response to retinoic acid cellular response to growth factor stimulus intrinsic apoptotic signaling pathway execution phase of apoptosis negative regulation of neuron death negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway regulation of mitophagy positive regulation of protein targeting to mitochondrion negative regulation of mitophagy in response to mitochondrial depolarization serine-type endopeptidase complex positive regulation of extrinsic apoptotic signaling pathway in absence of ligand positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway uc002smi.1 uc002smi.2 uc002smi.3 
ENST00000258083.3 PRADC1 ENST00000258083.3 Homo sapiens protease associated domain containing 1 (PRADC1), transcript variant 2, non-coding RNA. (from RefSeq NR_144358) C2orf7 ENST00000258083.1 ENST00000258083.2 NR_144358 PADC1_HUMAN PAP21 Q2Z1P2 Q9BSG0 UNQ833/PRO1760 uc002siy.1 uc002siy.2 uc002siy.3 uc002siy.4 Secreted. Highly expressed in skeletal muscle, heart and liver. Expressed at intermediate level in kidney. N-glycosylated; required for efficient secretion. Contains 1 PA (protease associated) domain. protein binding extracellular region uc002siy.1 uc002siy.2 uc002siy.3 uc002siy.4 
ENST00000258091.10 CCT7 ENST00000258091.10 Homo sapiens chaperonin containing TCP1 subunit 7 (CCT7), transcript variant 6, non-coding RNA. (from RefSeq NR_029403) A8K7E6 A8MWI8 B7WNW9 B7Z4T9 B7Z4Z7 CCTH ENST00000258091.1 ENST00000258091.2 ENST00000258091.3 ENST00000258091.4 ENST00000258091.5 ENST00000258091.6 ENST00000258091.7 ENST00000258091.8 ENST00000258091.9 NIP7-1 NR_029403 O14871 Q6FI26 Q99832 TCPH_HUMAN uc002siz.1 uc002siz.2 uc002siz.3 uc002siz.4 uc002siz.5 This gene encodes a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 6. [provided by RefSeq, Oct 2009]. Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. Known to play a role, in vitro, in the folding of actin and tubulin (By similarity). Heterooligomeric complex of about 850 to 900 kDa that forms two stacked rings, 12 to 16 nm in diameter. Interacts with PACRG. Cytoplasm (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q99832-1; Sequence=Displayed; Name=2; IsoId=Q99832-2; Sequence=VSP_043573, VSP_043574; Note=No experimental confirmation available; Name=3; IsoId=Q99832-3; Sequence=VSP_043572; Note=No experimental confirmation available; Name=4; IsoId=Q99832-4; Sequence=VSP_043573; Note=No experimental confirmation available; Belongs to the TCP-1 chaperonin family. nucleotide binding protein binding ATP binding cytoplasm cytosol chaperonin-containing T-complex microtubule protein folding binding of sperm to zona pellucida positive regulation of telomere maintenance via telomerase identical protein binding cell body protein stabilization unfolded protein binding extracellular exosome toxin transport positive regulation of establishment of protein localization to telomere positive regulation of protein localization to Cajal body positive regulation of telomerase RNA localization to Cajal body uc002siz.1 uc002siz.2 uc002siz.3 uc002siz.4 uc002siz.5 
ENST00000258098.6 RAB11FIP5 ENST00000258098.6 Homo sapiens RAB11 family interacting protein 5 (RAB11FIP5), transcript variant 2, mRNA. (from RefSeq NM_015470) ENST00000258098.1 ENST00000258098.2 ENST00000258098.3 ENST00000258098.4 ENST00000258098.5 GAF1 KIAA0857 NM_015470 O94939 Q9BXF6 Q9P0M1 RFIP5_HUMAN RIP11 uc002siu.1 uc002siu.2 uc002siu.3 uc002siu.4 Rab effector involved in protein trafficking from apical recycling endosomes to the apical plasma membrane. Forms a heterooligomeric complex with RAB11FIP4. Binds NAPG and TROVE2. Binds RAB11A that has been activated by GTP binding. Cytoplasm. Recycling endosome membrane; Peripheral membrane protein. Mitochondrion membrane; Peripheral membrane protein. Detected at low levels in heart, brain, placenta, lung, liver, adipocytes, kidney, spleen, skeletal muscle and pancreas. Binds to vesicles enriched in neutral phospholipids via its C2 domain. The interaction is favored by Mg(2+) rather than Ca(2+). Phosphorylated on serine and threonine residues. Antibodies against RIP11 are found in sera from patients with autoimmune diseases such as systemic lupus erythematosus (SLE) or Sjoegren syndrome (SS). It is also found in the sera from mothers of children with neonatal lupus erythematosus (NLE). Contains 1 C2 domain. Contains 1 FIP-RBD domain. Sequence=BAA74880.1; Type=Erroneous initiation; Golgi membrane protein binding cytoplasm mitochondrion mitochondrial outer membrane endosome early endosome Golgi apparatus microtubule organizing center protein transport membrane Rab GTPase binding secretory granule transport vesicle membrane cytoplasmic vesicle early endosome membrane mitochondrial membrane insulin secretion involved in cellular response to glucose stimulus gamma-tubulin binding intracellular membrane-bounded organelle regulated exocytosis recycling endosome recycling endosome membrane negative regulation of adiponectin secretion cellular response to acidic pH regulation of protein localization to cell surface uc002siu.1 uc002siu.2 uc002siu.3 uc002siu.4 
ENST00000258105.8 MRPL53 ENST00000258105.8 Homo sapiens mitochondrial ribosomal protein L53 (MRPL53), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_053050) ENST00000258105.1 ENST00000258105.2 ENST00000258105.3 ENST00000258105.4 ENST00000258105.5 ENST00000258105.6 ENST00000258105.7 NM_053050 Q96EL3 RM53_HUMAN uc002sln.1 uc002sln.2 uc002sln.3 uc002sln.4 uc002sln.5 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 1p. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BP205925.1, ERR279839.1681.1 [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 :: ENST00000258105.8/ ENSP00000258105.7 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Mitochondrion (By similarity). protein binding mitochondrion mitochondrial inner membrane mitochondrial large ribosomal subunit ribosome mitochondrial translational elongation mitochondrial translational termination uc002sln.1 uc002sln.2 uc002sln.3 uc002sln.4 uc002sln.5 
ENST00000258106.11 EMX1 ENST00000258106.11 Homo sapiens empty spiracles homeobox 1 (EMX1), mRNA. (from RefSeq NM_004097) EMX1_HUMAN ENST00000258106.1 ENST00000258106.10 ENST00000258106.2 ENST00000258106.3 ENST00000258106.4 ENST00000258106.5 ENST00000258106.6 ENST00000258106.7 ENST00000258106.8 ENST00000258106.9 NM_004097 Q04741 Q0D2P0 Q53T30 Q86XB0 uc002sin.1 uc002sin.2 Transcription factor, which in cooperation with EMX2, acts to generate the boundary between the roof and archipallium in the developing brain. May function in combinations with OTX1/2 to specify cell fates in the developing central nervous system. Nucleus (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q04741-1; Sequence=Displayed; Name=2; IsoId=Q04741-2; Sequence=VSP_022145, VSP_022146; Note=No experimental confirmation available; Cerebral cortex. Belongs to the EMX homeobox family. Contains 1 homeobox DNA-binding domain. Sequence=AAH45762.2; Type=Erroneous initiation; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding in utero embryonic development DNA binding protein binding nucleus nucleolus cytoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development central nervous system development brain development post-embryonic development telencephalon development cerebral cortex regionalization cerebral cortex neuron differentiation cerebral cortex development neuron differentiation response to drug sequence-specific DNA binding brain morphogenesis homeostasis of number of cells radial glial cell differentiation neuroepithelial cell differentiation regulation of oligodendrocyte progenitor proliferation neuron projection extension uc002sin.1 uc002sin.2 
ENST00000258111.5 KCNMB4 ENST00000258111.5 Homo sapiens potassium calcium-activated channel subfamily M regulatory beta subunit 4 (KCNMB4), mRNA. (from RefSeq NM_014505) ENST00000258111.1 ENST00000258111.2 ENST00000258111.3 ENST00000258111.4 KCMB4_HUMAN NM_014505 Q86W47 Q8IVR3 Q9NPA4 Q9P0G5 uc001svx.1 uc001svx.2 uc001svx.3 uc001svx.4 uc001svx.5 MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which slows activation kinetics, leads to steeper calcium sensitivity, and shifts the voltage range of current activation to more negative potentials than does the beta 1 subunit. [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 :: SRR1660809.193257.1, SRR1660803.206977.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000258111.5/ ENSP00000258111.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Decreases the gating kinetics and calcium sensitivity of the KCNMA1 channel, but with fast deactivation kinetics. May decrease KCNMA1 channel openings at low calcium concentrations but increases channel openings at high calcium concentrations. Makes KCNMA1 channel resistant to 100 nM charybdotoxin (CTX) toxin concentrations. Interacts with KCNMA1 tetramer. There are probably 4 molecules of KCMNB4 per KCNMA1 tetramer. Membrane; Multi-pass membrane protein. Predominantly expressed in brain. In brain, it is expressed in the cerebellum, cerebral cortex, medulla, spinal cord, occipital pole, frontal lobe, temporal lobe, putamen, amygdala, caudate nucleus, corpus callosum, hippocampus, substantia nigra and thalamus. Weakly or not expressed in other tissues. Resistance to charybdotoxin (CTX) toxin is mediated by the extracellular domain. Phosphorylated. Phosphorylation modulates its effect on KCNMA1 activation kinetics. N-glycosylated. A highly glycosylated form is promoted by KCNMA1. Glycosylation, which is not required for the interaction with KCNMA1 and subcellular location, increases protection against charybdotoxin. Treatment with okadaic acid reduces its effect on KCNMA1. Belongs to the KCNMB (TC 8.A.14.1) family. KCNMB4 subfamily. action potential detection of calcium ion protein binding plasma membrane integral component of plasma membrane ion transport potassium ion transport chemical synaptic transmission voltage-gated potassium channel complex calcium-activated potassium channel activity potassium channel regulator activity membrane integral component of membrane neuronal action potential regulation of vasoconstriction regulation of neurotransmitter secretion potassium ion transmembrane transport uc001svx.1 uc001svx.2 uc001svx.3 uc001svx.4 uc001svx.5 
ENST00000258145.8 GNS ENST00000258145.8 Homo sapiens glucosamine (N-acetyl)-6-sulfatase (GNS), mRNA. (from RefSeq NM_002076) ENST00000258145.1 ENST00000258145.2 ENST00000258145.3 ENST00000258145.4 ENST00000258145.5 ENST00000258145.6 ENST00000258145.7 GNS_HUMAN NM_002076 P15586 Q53F05 uc001ssg.1 uc001ssg.2 uc001ssg.3 uc001ssg.4 uc001ssg.5 uc001ssg.6 The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.55744.1, SRR1803616.138171.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000258145.8/ ENSP00000258145.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Hydrolysis of the 6-sulfate groups of the N- acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate. Binds 1 calcium ion per subunit (By similarity). P16333:NCK1; NbExp=2; IntAct=EBI-1752200, EBI-389883; Lysosome. The form A (78 kDa) is processed by internal peptidase cleavage to a 32 kDa N-terminal species (form B) and a 48 kDa C- terminal species. The conversion to 3-oxoalanine (also known as C- formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity (By similarity). Defects in GNS are the cause of mucopolysaccharidosis type 3D (MPS3D) [MIM:252940]; also known as Sanfilippo D syndrome. MPS3D is a form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Belongs to the sulfatase family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GNS"; catalytic activity protein binding glycosaminoglycan binding extracellular region lysosome glycosaminoglycan catabolic process N-acetylglucosamine-6-sulfatase activity sulfuric ester hydrolase activity hydrolase activity glycosaminoglycan metabolic process azurophil granule lumen keratan sulfate catabolic process lysosomal lumen neutrophil degranulation metal ion binding extracellular exosome ficolin-1-rich granule lumen uc001ssg.1 uc001ssg.2 uc001ssg.3 uc001ssg.4 uc001ssg.5 uc001ssg.6 
ENST00000258168.7 BCO1 ENST00000258168.7 Homo sapiens beta-carotene oxygenase 1 (BCO1), mRNA. (from RefSeq NM_017429) A0AV48 A0AV50 BCDO BCDO1 BCDO1_HUMAN BCMO1 ENST00000258168.1 ENST00000258168.2 ENST00000258168.3 ENST00000258168.4 ENST00000258168.5 ENST00000258168.6 NM_017429 Q9HAY6 Q9NVH5 uc002fgn.1 uc002fgn.2 uc002fgn.3 Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF294900.1, SRR1803611.203965.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2142586 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000258168.7/ ENSP00000258168.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Symmetrically cleaves beta-carotene into two molecules of retinal. The reaction proceeds in three stages, epoxidation of the 15,15'-double bond, hydration of the double bond leading to ring opening, and oxidative cleavage of the diol formed. Beta-carotene + O(2) = 2 all-trans-retinal. Binds 1 Fe(2+) ion per subunit (By similarity). Cofactor metabolism; retinol metabolism. Highly expressed in retinal pigment epithelium. Also expressed in kidney, testis, liver, brain, small intestine and colon. Defects in BCMO1 are the cause of autosomal dominant hypercarotenemia and vitamin A deficiency (ADHVAD) [MIM:115300]. Vitamin A is essential for normal embryonic development as well as normal physiological functions in children and adults. Hypercarotenemia is characterized by an excess carotene in the serum, but unlike excess vitamin A, carotene is non-toxic. So far, only a few cases of excess vitamin A have been reported. Individuals were thought to be vitamin A deficient due to an impairment in the conversion of carotenoids to retinal in the intestine. Belongs to the carotenoid oxygenase family. retinoid metabolic process beta-carotene 15,15'-monooxygenase activity retinal isomerase activity cytosol carotenoid dioxygenase activity carotene catabolic process oxidoreductase activity oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen vitamin A biosynthetic process retinol metabolic process retinal metabolic process metal ion binding dioxygenase activity oxidation-reduction process beta-carotene metabolic process uc002fgn.1 uc002fgn.2 uc002fgn.3 
ENST00000258169.9 MPHOSPH6 ENST00000258169.9 Homo sapiens M-phase phosphoprotein 6 (MPHOSPH6), mRNA. (from RefSeq NM_005792) B2RAF0 ENST00000258169.1 ENST00000258169.2 ENST00000258169.3 ENST00000258169.4 ENST00000258169.5 ENST00000258169.6 ENST00000258169.7 ENST00000258169.8 MPH6_HUMAN MPP6 NM_005792 Q99547 uc002fgw.1 uc002fgw.2 uc002fgw.3 uc002fgw.4 uc002fgw.5 RNA-binding protein that associates with the RNA exosome complex. Involved in the 3'processing of the 7S pre-RNA to the mature 5.8S rRNA and may play a role in recruiting the RNA exosome complex to pre-rRNA; this function may include C1D. Associates with the RNA exosome complex, probably mediated by EXOSC10. Interacts with ARHGAP18, EXOSC10 and SKIV2L2. Q01780:EXOSC10; NbExp=4; IntAct=EBI-373187, EBI-358236; Q13868:EXOSC2; NbExp=3; IntAct=EBI-373187, EBI-301735; P42285:SKIV2L2; NbExp=2; IntAct=EBI-373187, EBI-347612; Nucleus, nucleolus. Cytoplasm. Note=Cytoplasmic in M phase. Phosphorylated in M (mitotic) phase. Belongs to the MPP6 family. nuclear exosome (RNase complex) exosome (RNase complex) maturation of 5.8S rRNA RNA binding protein binding nucleus nucleoplasm nucleolus cytoplasm rRNA processing uc002fgw.1 uc002fgw.2 uc002fgw.3 uc002fgw.4 uc002fgw.5 
ENST00000258173.11 TMEM231 ENST00000258173.11 Homo sapiens transmembrane protein 231 (TMEM231), transcript variant 2, mRNA. (from RefSeq NM_001077418) A0JLU1 A6NDZ6 B3KU85 ENST00000258173.1 ENST00000258173.10 ENST00000258173.2 ENST00000258173.3 ENST00000258173.4 ENST00000258173.5 ENST00000258173.6 ENST00000258173.7 ENST00000258173.8 ENST00000258173.9 G5E9E3 NM_001077418 Q6P450 Q6UWW5 Q9H6L2 TM231_HUMAN UNQ870/PRO1886 uc002fem.1 uc002fem.2 uc002fem.3 uc002fem.4 uc002fem.5 uc002fem.6 This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]. Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity). Part of the tectonic-like complex (also named B9 complex) (By similarity). Cell projection, cilium membrane; Multi-pass membrane protein (By similarity). Note=Localizes to the transition zone of primary cilia; SEPT2 is required for localization to the transition zone (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9H6L2-1; Sequence=Displayed; Name=2; IsoId=Q9H6L2-2; Sequence=VSP_042388; Note=Ref.2 (BAG53347) sequence is in conflict in position: 2:S->R; Name=3; IsoId=Q9H6L2-3; Sequence=VSP_042387; Note=No experimental confirmation available; Belongs to the TMEM231 family. in utero embryonic development vasculature development protein binding plasma membrane cilium smoothened signaling pathway membrane integral component of membrane cell projection organization regulation of protein localization ciliary transition zone MKS complex embryonic digit morphogenesis cell projection camera-type eye development ciliary membrane cilium assembly neuroepithelial cell differentiation uc002fem.1 uc002fem.2 uc002fem.3 uc002fem.4 uc002fem.5 uc002fem.6 
ENST00000258198.7 DYNC1LI2 ENST00000258198.7 Homo sapiens dynein cytoplasmic 1 light intermediate chain 2 (DYNC1LI2), transcript variant 4, non-coding RNA. (from RefSeq NR_136658) A8K6V1 DC1L2_HUMAN DNCLI2 ENST00000258198.1 ENST00000258198.2 ENST00000258198.3 ENST00000258198.4 ENST00000258198.5 ENST00000258198.6 LIC2 NR_136658 O43237 Q8TAT3 uc002eqb.1 uc002eqb.2 uc002eqb.3 Cytoplasmic dynein is a microtubule-associated motor protein (Hughes et al., 1995 [PubMed 7738094]). See DYNC1H1 (MIM 600112) for general information about dyneins.[supplied by OMIM, Mar 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.227181.1, SRR3476690.745539.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in binding dynein to membranous organelles or chromosomes. Homodimer (By similarity). The cytoplasmic dynein 1 complex consists of two catalytic heavy chains (HCs) and a number of non-catalytic subunits presented by intermediate chains (ICs), light intermediate chains (LICs) and light chains (LCs); the composition seems to vary in respect to the IC, LIC and LC composition. The heavy chain homodimer serves as a scaffold for the probable homodimeric assembly of the respective non-catalytic subunits. The ICs and LICs bind directly to the HC dimer and the LCs assemble on the IC dimer. Self-associates. Interacts with DYNC1H1; DYNC1LI1 and DYNC1LI2 bind mutually exclusive to DYNC1H1 (By similarity). Cytoplasm, cytoskeleton (By similarity). Belongs to the dynein light intermediate chain family. nucleotide binding microtubule cytoskeleton organization kinetochore motor activity microtubule motor activity ATP binding cytoplasm lysosome late endosome centrosome cytosol cytoskeleton cytoplasmic dynein complex microtubule ER to Golgi vesicle-mediated transport microtubule-based movement membrane antigen processing and presentation of exogenous peptide antigen via MHC class II dynein complex dynein heavy chain binding protein homooligomerization centrosome localization cellular response to nerve growth factor stimulus uc002eqb.1 uc002eqb.2 uc002eqb.3 
ENST00000258200.8 FBXL8 ENST00000258200.8 Homo sapiens F-box and leucine rich repeat protein 8 (FBXL8), mRNA. (from RefSeq NM_018378) ENST00000258200.1 ENST00000258200.2 ENST00000258200.3 ENST00000258200.4 ENST00000258200.5 ENST00000258200.6 ENST00000258200.7 FBL8 FBXL8_HUMAN NM_018378 Q96CD0 Q9NUM0 uc002erk.1 uc002erk.2 uc002erk.3 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. It shares 78% sequence identity with the mouse protein. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BC014414.1, SRR3476690.924531.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000258200.8/ ENSP00000258200.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex (By similarity). Directly interacts with SKP1 and CUL1 (By similarity). P63208:SKP1; NbExp=3; IntAct=EBI-2321097, EBI-307486; Contains 1 F-box domain. While the gene symbol and protein names are indicative of the presence of LRR repeats, such repeats are not present in this protein. G2/M transition of mitotic cell cycle protein polyubiquitination protein binding nucleus cytosol SCF ubiquitin ligase complex SCF-dependent proteasomal ubiquitin-dependent protein catabolic process post-translational protein modification regulation of cell cycle ubiquitin protein ligase activity uc002erk.1 uc002erk.2 uc002erk.3 
ENST00000258201.9 FHOD1 ENST00000258201.9 Homo sapiens formin homology 2 domain containing 1 (FHOD1), transcript variant 2, mRNA. (from RefSeq NM_013241) ENST00000258201.1 ENST00000258201.2 ENST00000258201.3 ENST00000258201.4 ENST00000258201.5 ENST00000258201.6 ENST00000258201.7 ENST00000258201.8 FHOD1_HUMAN FHOS FHOS1 NM_013241 Q59F76 Q6Y1F2 Q76MS8 Q8N521 Q9Y613 uc002esl.1 uc002esl.2 uc002esl.3 uc002esl.4 uc002esl.5 This gene encodes a protein which is a member of the formin/diaphanous family of proteins. The gene is ubiquitously expressed but is found in abundance in the spleen. The encoded protein has sequence homology to diaphanous and formin proteins within the Formin Homology (FH)1 and FH2 domains. It also contains a coiled-coil domain, a collagen-like domain, two nuclear localization signals, and several potential PKC and PKA phosphorylation sites. It is a predominantly cytoplasmic protein and is expressed in a variety of human cell lines. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. Required for the assembly of F-actin structures, such as stress fibers. Depends on the Rho-ROCK cascade for its activity. Contributes to the coordination of microtubules with actin fibers and plays a role in cell elongation. Acts synergistically with ROCK1 to promote SRC-dependent non-apoptotic plasma membrane blebbing. Self-associates via the FH2 domain. Binds to F-actin via its N-terminus. Binds to the cytoplasmic domain of CD21 via its C- terminus. Interacts with ROCK1 in a Src-dependent manner. Cytoplasm. Cytoplasm, cytoskeleton. Cell projection, bleb. Note=Predominantly cytoplasmic. Ubiquitous. Highly expressed in spleen. The DAD domain regulates activation via by an autoinhibitory interaction with the GBD/FH3 domain. This autoinhibition is released upon competitive binding of an activated GTPase. The release of DAD allows the FH2 domain to then nucleate and elongate nonbranched actin filaments. Phosphorylated by ROCK1. Belongs to the formin homology family. Contains 1 DAD (diaphanous autoregulatory) domain. Contains 1 FH1 (formin homology 1) domain. Contains 1 FH2 (formin homology 2) domain. Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain. actin binding protein binding nucleus cytoplasm cytosol cytoskeleton nuclear migration intercalated disc membrane protein domain specific binding bleb identical protein binding cell projection protein self-association positive regulation of transcription from RNA polymerase II promoter regulation of stress fiber assembly positive regulation of stress fiber assembly establishment of centrosome localization stress fiber uc002esl.1 uc002esl.2 uc002esl.3 uc002esl.4 uc002esl.5 
ENST00000258214.3 CCDC102A ENST00000258214.3 Homo sapiens coiled-coil domain containing 102A (CCDC102A), mRNA. (from RefSeq NM_033212) C102A_HUMAN ENST00000258214.1 ENST00000258214.2 NM_033212 Q96A19 Q9BT74 uc002elw.1 uc002elw.2 uc002elw.3 uc002elw.4 uc002elw.5 motor activity myosin complex uc002elw.1 uc002elw.2 uc002elw.3 uc002elw.4 uc002elw.5 
ENST00000258229.14 PCNX2 ENST00000258229.14 Homo sapiens pecanex 2 (PCNX2), transcript variant 1, mRNA. (from RefSeq NM_014801) A6NKB5 ENST00000258229.1 ENST00000258229.10 ENST00000258229.11 ENST00000258229.12 ENST00000258229.13 ENST00000258229.2 ENST00000258229.3 ENST00000258229.4 ENST00000258229.5 ENST00000258229.6 ENST00000258229.7 ENST00000258229.8 ENST00000258229.9 KIAA0435 NM_014801 O43162 PCNXL2 PCX2_HUMAN Q5T9Z8 Q5TDF1 Q8TEP4 Q96HP9 Q9HAL8 uc001hvl.1 uc001hvl.2 uc001hvl.3 uc001hvl.4 This gene contains coding mononucleotide repeats that are associated with tumors of high mcrosatellite instability (MSI-H). Defects in this gene are involved in the tumorigenesis of MSI-H colorectal carcinomas. [provided by RefSeq, Jun 2016]. May play a role in tumorigenesis of colorectal carcinomas with high microsatellite instability (MSI-H). Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=A6NKB5-1; Sequence=Displayed; Name=2; IsoId=A6NKB5-2; Sequence=VSP_033607, VSP_033608, VSP_033609; Name=3; IsoId=A6NKB5-3; Sequence=VSP_033606, VSP_033610, VSP_033611; Note=No experimental confirmation available; Name=5; IsoId=A6NKB5-5; Sequence=VSP_035048, VSP_035049, VSP_035050; Name=4; IsoId=A6NKB5-4; Sequence=VSP_033605; Note=No experimental confirmation available; PCNXL2 is characterized by high mutational frequencies and biallelic mutations in MSI-H colorectal tumors, and is thus likely to be a target gene in these tumors. Belongs to the pecanex family. Sequence=BAA23708.2; Type=Erroneous initiation; Sequence=BAB84904.1; Type=Erroneous initiation; molecular_function cellular_component biological_process membrane integral component of membrane uc001hvl.1 uc001hvl.2 uc001hvl.3 uc001hvl.4 
ENST00000258243.7 URB2 ENST00000258243.7 Homo sapiens URB2 ribosome biogenesis homolog (URB2), transcript variant 2, mRNA. (from RefSeq NM_014777) ENST00000258243.1 ENST00000258243.2 ENST00000258243.3 ENST00000258243.4 ENST00000258243.5 ENST00000258243.6 KIAA0133 NM_014777 Q14146 Q5VYC9 URB2_HUMAN uc001hts.1 uc001hts.2 Nucleus, nucleolus. Sequence=BAA09482.3; Type=Erroneous initiation; nucleus nucleolus aggresome midbody ribosome biogenesis uc001hts.1 uc001hts.2 
ENST00000258281.7 TAF5L ENST00000258281.7 Homo sapiens TATA-box binding protein associated factor 5 like (TAF5L), transcript variant 1, mRNA. (from RefSeq NM_014409) ENST00000258281.1 ENST00000258281.2 ENST00000258281.3 ENST00000258281.4 ENST00000258281.5 ENST00000258281.6 NM_014409 O75529 PAF65B Q5TDI5 Q5TDI6 Q8IW31 TAF5L_HUMAN uc001htq.1 uc001htq.2 uc001htq.3 uc001htq.4 uc001htq.5 uc001htq.6 The product of this gene belongs to the WD-repeat TAF5 family of proteins. This gene encodes a protein that is a component of the PCAF histone acetylase complex. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors to facilitate complex assembly and transcription initiation. The encoded protein is structurally similar to one of the histone-like TAFs, TAF5. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. Functions as a component of the PCAF complex. The PCAF complex is capable of efficiently acetylating histones in a nucleosomal context. The PCAF complex could be considered as the human version of the yeast SAGA complex. The PCAF complex is composed of a number of TBP- associated factors (TAFS), such as TAF5, TAF5L, TAF6, TAF6L, TAF9, TAF10 and TAF12, PCAF, and also PCAF-associated factors (PAFs), such as TADA2L/ADA2, TADA3L/ADA3 and SPT3. Component of the STAGA transcription coactivator-HAT complex, at least composed of SUPT3H, GCN5L2, TAF5L, TAF6L, SUPT7L, TADA3L, TAD1L, TAF10, TAF12, TRRAP and TAF9. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75529-1; Sequence=Displayed; Name=2; IsoId=O75529-2; Sequence=VSP_010156, VSP_010157; Note=May be due to an intron retention. No experimental confirmation available; Belongs to the WD repeat TAF5 family. Contains 6 WD repeats. transcription coactivator activity protein binding nucleus regulation of transcription, DNA-templated transcription from RNA polymerase II promoter nuclear speck STAGA complex transcription factor TFTC complex cytoplasmic ribonucleoprotein granule histone H3 acetylation positive regulation of nucleic acid-templated transcription regulation of somatic stem cell population maintenance histone acetyltransferase activity uc001htq.1 uc001htq.2 uc001htq.3 uc001htq.4 uc001htq.5 uc001htq.6 
ENST00000258341.5 LAMC1 ENST00000258341.5 Homo sapiens laminin subunit gamma 1 (LAMC1), mRNA. (from RefSeq NM_002293) ENST00000258341.1 ENST00000258341.2 ENST00000258341.3 ENST00000258341.4 LAMB2 LAMC1_HUMAN NM_002293 P11047 Q5VYE7 uc001gpy.1 uc001gpy.2 uc001gpy.3 uc001gpy.4 uc001gpy.5 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [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 :: SRR1660807.265304.1, J03202.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000258341.5/ ENSP00000258341.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Gamma-1 is a subunit of laminin-1 (laminin-111 or EHS laminin), laminin-2 (laminin-211 or merosin), laminin-3 (laminin- 121 or S-laminin), laminin-4 (laminin-221 or S-merosin), laminin-6 (laminin-311 or K-laminin), laminin-7 (laminin-321 or KS-laminin), laminin-8 (laminin-411), laminin-9 (laminin-421), laminin-10 (laminin-511) and laminin-11 (laminin-521). Secreted, extracellular space, extracellular matrix, basement membrane. Found in the basement membranes (major component). The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure. Domains VI and IV are globular. Contains 11 laminin EGF-like domains. Contains 1 laminin IV type A domain. Contains 1 laminin N-terminal domain. extracellular matrix structural constituent extracellular region basement membrane laminin-1 complex extracellular space endoplasmic reticulum lumen cell adhesion endoderm development animal organ morphogenesis tissue development cell migration extracellular matrix disassembly extracellular matrix constituent conferring elasticity extracellular matrix organization extracellular matrix hemidesmosome assembly substrate adhesion-dependent cell spreading laminin-10 complex laminin-11 complex post-translational protein modification cellular protein metabolic process positive regulation of epithelial cell proliferation macromolecular complex assembly extracellular exosome uc001gpy.1 uc001gpy.2 uc001gpy.3 uc001gpy.4 uc001gpy.5 
ENST00000258381.11 SP110 ENST00000258381.11 Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA. (from RefSeq NM_080424) ENST00000258381.1 ENST00000258381.10 ENST00000258381.2 ENST00000258381.3 ENST00000258381.4 ENST00000258381.5 ENST00000258381.6 ENST00000258381.7 ENST00000258381.8 ENST00000258381.9 NM_080424 Q14976 Q14977 Q53TG2 Q8WUZ6 Q9HB58 Q9HCT8 SP110_HUMAN uc002vqg.1 uc002vqg.2 uc002vqg.3 uc002vqg.4 uc002vqg.5 uc002vqg.6 The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008]. Transcription factor. May be a nuclear hormone receptor coactivator. Enhances transcription of genes with retinoic acid response elements (RARE). Isoform 3 interacts with HCV core protein. Nucleus. Note=Found in the nuclear body. Event=Alternative splicing; Named isoforms=6; Name=1; IsoId=Q9HB58-1; Sequence=Displayed; Name=2; Synonyms=IFI75, 75; IsoId=Q9HB58-2; Sequence=VSP_005992, VSP_006001, VSP_006002; Name=3; Synonyms=Sp110b; IsoId=Q9HB58-3; Sequence=VSP_005997, VSP_006000; Note=Ref.2 (AAF99318) sequence differs from that shown due to a frameshift in position 534; Name=4; Synonyms=IFI41, 41; IsoId=Q9HB58-4; Sequence=VSP_005991, VSP_005994, VSP_005995, VSP_005997, VSP_006000; Name=5; IsoId=Q9HB58-5; Sequence=VSP_005996, VSP_005997, VSP_006000; Name=6; IsoId=Q9HB58-6; Sequence=VSP_035593; Highly expressed in peripheral blood leukocytes and spleen. Detected at intermediate levels in thymus, prostate, testis, ovary, small intestine and colon, and at low levels in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. By IFNG/IFN-gamma and all-trans retinoic acid (ATRA). Phosphorylated (isoform 2). Defects in SP110 are the cause of hepatic venoocclusive disease with immunodeficiency (VODI) [MIM:235550]. VODI is an autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. The immunodeficiency is characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, and absent tissue plasma cells. Contains 1 bromo domain. Contains 1 HSR domain. Contains 1 PHD-type zinc finger. Contains 1 SAND domain. Sequence=AAF99318.1; Type=Frameshift; Positions=Several; Sequence=AAG09826.1; Type=Frameshift; Positions=141, 143; Sequence=AK026488; Type=Frameshift; Positions=296, 542, 567; Name=SP110base; Note=SP110 mutation db; URL="http://bioinf.uta.fi/SP110base/"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SP110"; RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding nucleus regulation of transcription from RNA polymerase II promoter viral process metal ion binding uc002vqg.1 uc002vqg.2 uc002vqg.3 uc002vqg.4 uc002vqg.5 uc002vqg.6 
ENST00000258383.4 MRPL44 ENST00000258383.4 Homo sapiens mitochondrial ribosomal protein L44 (MRPL44), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_022915) ENST00000258383.1 ENST00000258383.2 ENST00000258383.3 NM_022915 Q53S16 Q6IA62 Q9H821 Q9H9J2 RM44_HUMAN uc002vnr.1 uc002vnr.2 uc002vnr.3 uc002vnr.4 uc002vnr.5 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AK022763.1, SRR3476690.688648.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000258383.4/ ENSP00000258383.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Component of the 39S subunit of mitochondrial ribosome. Mitochondrion. Contains 1 DRBM (double-stranded RNA-binding) domain. Contains 1 RNase III domain. RNA binding double-stranded RNA binding nuclease activity endonuclease activity ribonuclease III activity protein binding nucleus mitochondrion mitochondrial inner membrane mitochondrial large ribosomal subunit ribosome plasma membrane RNA processing hydrolase activity production of siRNA involved in RNA interference primary miRNA processing pre-miRNA processing mitochondrial translational elongation mitochondrial translational termination nucleic acid phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis, endonucleolytic uc002vnr.1 uc002vnr.2 uc002vnr.3 uc002vnr.4 uc002vnr.5 
ENST00000258385.8 CHRND ENST00000258385.8 Homo sapiens cholinergic receptor nicotinic delta subunit (CHRND), transcript variant 1, mRNA. (from RefSeq NM_000751) ACHD_HUMAN ACHRD ENST00000258385.1 ENST00000258385.2 ENST00000258385.3 ENST00000258385.4 ENST00000258385.5 ENST00000258385.6 ENST00000258385.7 NM_000751 Q07001 Q52LH4 uc002vsw.1 uc002vsw.2 uc002vsw.3 uc002vsw.4 uc002vsw.5 uc002vsw.6 The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]. After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Defects in CHRND are a cause of multiple pterygium syndrome lethal type (MUPSL) [MIM:253290]. Multiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent. Defects in CHRND are a cause of congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]. SCCMS is the most common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. SCCMS is caused by kinetic abnormalities of the AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes. Defects in CHRND are a cause of congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]. FCCMS is a congenital myasthenic syndrome characterized by kinetic abnormalities of the AChR. In most cases, FCCMS is due to mutations that decrease activity of the AChR by slowing the rate of opening of the receptor channel, speeding the rate of closure of the channel, or decreasing the number of openings of the channel during ACh occupancy. The result is failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Delta/CHRND sub-subfamily. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CHRND"; skeletal muscle contraction transmembrane signaling receptor activity ion channel activity extracellular ligand-gated ion channel activity nucleoplasm cytosol plasma membrane integral component of plasma membrane acetylcholine-gated channel complex ion transport cation transport muscle contraction signal transduction chemical synaptic transmission synaptic transmission, cholinergic neuromuscular synaptic transmission ligand-gated ion channel activity membrane integral component of membrane acetylcholine-gated cation-selective channel activity cell junction neuromuscular junction ion transmembrane transport response to nicotine acetylcholine binding regulation of membrane potential neuron projection synapse postsynaptic membrane skeletal muscle tissue growth neurological system process musculoskeletal movement neuromuscular process regulation of postsynaptic membrane potential excitatory postsynaptic potential integral component of postsynaptic specialization membrane transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential acetylcholine receptor activity uc002vsw.1 uc002vsw.2 uc002vsw.3 uc002vsw.4 uc002vsw.5 uc002vsw.6 
ENST00000258390.12 DOCK10 ENST00000258390.12 Homo sapiens dedicator of cytokinesis 10 (DOCK10), transcript variant 1, mRNA. (from RefSeq NM_014689) DOC10_HUMAN ENST00000258390.1 ENST00000258390.10 ENST00000258390.11 ENST00000258390.2 ENST00000258390.3 ENST00000258390.4 ENST00000258390.5 ENST00000258390.6 ENST00000258390.7 ENST00000258390.8 ENST00000258390.9 KIAA0694 NM_014689 O75178 Q96BY6 Q9NW06 Q9NXI8 ZIZ3 uc010fwz.1 uc010fwz.2 uc010fwz.3 This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family are guanosine nucleotide exchange factors for Rho GTPases and defined by the presence of conserved DOCK-homology regions. The encoded protein belongs to the D (or Zizimin) subfamily of DOCK proteins, which also contain an N-terminal pleckstrin homology domain. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2014]. Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96BY6-1; Sequence=Displayed; Note=No experimental confirmation available; Name=2; IsoId=Q96BY6-2; Sequence=VSP_007716, VSP_007717; Note=No experimental confirmation available; Expressed at low level in brain and lung. The DHR-2 domain may mediate some GEF activity (By similarity). Belongs to the DOCK family. Contains 1 DHR-1 domain. Contains 1 DHR-2 domain. Contains 1 PH domain. Sequence=AAH15018.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA31669.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAA91022.1; Type=Frameshift; Positions=2133; Sequence=BAA91583.1; Type=Erroneous initiation; Note=Translation N-terminally extended; B cell homeostasis marginal zone B cell differentiation molecular_function guanyl-nucleotide exchange factor activity protein binding nucleus nucleoplasm cytoplasm cytosol small GTPase mediated signal transduction membrane regulation of cell migration cell projection dendritic spine positive regulation of GTPase activity dendritic spine morphogenesis extracellular exosome uc010fwz.1 uc010fwz.2 uc010fwz.3 
ENST00000258399.8 USP37 ENST00000258399.8 Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA. (from RefSeq NM_020935) A2RUQ8 B7ZM38 B7ZM41 E9PHL3 ENST00000258399.1 ENST00000258399.2 ENST00000258399.3 ENST00000258399.4 ENST00000258399.5 ENST00000258399.6 ENST00000258399.7 KIAA1594 NM_020935 Q2KHT2 Q53S10 Q7Z3A5 Q86T82 Q9HCH8 UBP37_HUMAN uc010fvs.1 uc010fvs.2 Deubiquitinase that antagonizes the anaphase-promoting complex (APC/C) during G1/S transition by mediating deubiquitination of cyclin-A (CCNA1 and CCNA2), thereby promoting S phase entry. Specifically mediates deubiquitination of 'Lys-11'- linked polyubiquitin chains, a specific ubiquitin-linkage type mediated by the APC/C complex. Also mediates deubiquitination of 'Lys-48'-linked polyubiquitin chains in vitro. Phosphorylation at Ser-628 during G1/S phase maximizes the deubiquitinase activity, leading to prevent degradation of cyclin-A (CCNA1 and CCNA2). Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal). Interacts with FZR1/CDH1. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q86T82-1; Sequence=Displayed; Name=2; IsoId=Q86T82-2; Sequence=VSP_041740, VSP_041741; Expressed in brain and prostate. Induced in G1 phase, accumulates at G1/S transition, and degraded in late mitosis following ubiquitination and degradation by the APC(CDH1) complex. Induced by E2F transcription factors in G1. The KEN box 3 is required for interaction with FZR1/CDH1 and is essential for APC(CDH1)-mediated ubiquitination. Polyubiquitinated via 'Lys-11'-linked ubiquitin by the APC(CDH1) complex during late mitosis, leading to its degradation. Able to mediate auto-deubiquitination. Phosphorylated at Ser-628 by CDK2 during G1/S phase but not during mitosis; phosphorylation at Ser-628 is required for deubiquitinase activity. Also polyubiquitinated during early G1 phase, without leading to degradation. Belongs to the peptidase C19 family. Contains 3 UIM (ubiquitin-interacting motif) repeats. Sequence=AAY14887.1; Type=Erroneous gene model prediction; G1/S transition of mitotic cell cycle cysteine-type endopeptidase activity thiol-dependent ubiquitin-specific protease activity protein binding nucleus nucleoplasm regulation of DNA replication proteolysis ubiquitin-dependent protein catabolic process cell cycle peptidase activity cysteine-type peptidase activity protein deubiquitination hydrolase activity protein kinase binding protein K11-linked deubiquitination thiol-dependent ubiquitinyl hydrolase activity cell division protein K48-linked deubiquitination uc010fvs.1 uc010fvs.2 
ENST00000258400.4 HTR2B ENST00000258400.4 Homo sapiens 5-hydroxytryptamine receptor 2B (HTR2B), transcript variant 2, mRNA. (from RefSeq NM_001320758) 5HT2B_HUMAN B2R9D5 ENST00000258400.1 ENST00000258400.2 ENST00000258400.3 NM_001320758 P41595 Q53TI1 Q62221 Q6P523 uc002vro.1 uc002vro.2 uc002vro.3 uc002vro.4 uc002vro.5 This gene encodes one of the several different receptors for 5-hydroxytryptamine (serotonin) that belongs to the G-protein coupled receptor 1 family. Serotonin is a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. Serotonin receptors mediate many of the central and peripheral physiologic functions of serotonin, including regulation of cardiovascular functions and impulsive behavior. Population and family-based analyses of a minor allele (glutamine-to-stop substitution, designated Q20*) which blocks expression of this protein, and knockout studies in mice, suggest a role for this gene in impulsivity. However, other factors, such as elevated testosterone levels, may also be involved. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]. This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. Plays a role in the regulation of impulsive behavior. Interacts with MPDZ. Cell membrane; Multi-pass membrane protein. Expressed in brain. Higher levels of expression are observed in the cerebellum, occipital cortex and frontal cortex. A variation at a single nucleotide base, which results in an erroneous stop codon and affects Gln-20, triggers non-sense mediated RNA decay, such that no HTR2B-receptor protein is expressed. It is associated with impulsive behavior and co- segregates with disorders characterized by impulsivity. However, the presence of this variant is not in itself sufficient to cause impulsive behavior: male sex, testosterone level, alcohol and stress exposure are other factors playing important roles. Belongs to the G-protein coupled receptor 1 family. Name=Protein Spotlight; Note=On the spur of a whim - Issue 127 of March 2011; URL="http://web.expasy.org/spotlight/back_issues/sptlt127.shtml"; neural crest cell migration positive regulation of cytokine production positive regulation of endothelial cell proliferation G-protein alpha-subunit binding G-protein coupled receptor internalization heart morphogenesis cardiac muscle hypertrophy G-protein coupled receptor activity G-protein coupled serotonin receptor activity GTPase activator activity protein binding nucleoplasm cytoplasm plasma membrane integral component of plasma membrane cellular calcium ion homeostasis smooth muscle contraction signal transduction G-protein coupled receptor signaling pathway G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger phospholipase C-activating G-protein coupled receptor signaling pathway activation of phospholipase C activity protein kinase C-activating G-protein coupled receptor signaling pathway serotonin receptor signaling pathway chemical synaptic transmission heart development behavior drug binding positive regulation of cell proliferation negative regulation of autophagy positive regulation of phosphatidylinositol biosynthetic process neural crest cell differentiation phosphatidylinositol 3-kinase signaling intestine smooth muscle contraction membrane integral component of membrane phosphorylation calcium-mediated signaling cGMP-mediated signaling cell junction dendrite neurotransmitter receptor activity vasoconstriction response to drug neuron projection negative regulation of apoptotic process positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of MAP kinase activity positive regulation of GTPase activity synapse embryonic morphogenesis positive regulation of cytokine secretion regulation of behavior positive regulation of nitric-oxide synthase activity release of sequestered calcium ion into cytosol serotonin binding positive regulation of cell division negative regulation of cell death ERK1 and ERK2 cascade positive regulation of ERK1 and ERK2 cascade protein kinase C signaling cellular response to temperature stimulus uc002vro.1 uc002vro.2 uc002vro.3 uc002vro.4 uc002vro.5 
ENST00000258405.9 SERPINE2 ENST00000258405.9 Homo sapiens serpin family E member 2 (SERPINE2), transcript variant 1, mRNA. (from RefSeq NM_006216) B2R6A4 B4DIF2 ENST00000258405.1 ENST00000258405.2 ENST00000258405.3 ENST00000258405.4 ENST00000258405.5 ENST00000258405.6 ENST00000258405.7 ENST00000258405.8 GDN_HUMAN NM_006216 P07093 PI7 PN1 Q53S15 Q5D0C4 uc002vnu.1 uc002vnu.2 uc002vnu.3 uc002vnu.4 This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. Thrombin, urokinase, plasmin and trypsin are among the proteases that this family member can inhibit. This gene is a susceptibility gene for chronic obstructive pulmonary disease and for emphysema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. Serine protease inhibitor with activity toward thrombin, trypsin, and urokinase. Promotes neurite extension by inhibiting thrombin. Binds heparin. Secreted, extracellular space. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P07093-1; Sequence=Displayed; Name=2; IsoId=P07093-2; Sequence=VSP_038367; Name=3; IsoId=P07093-3; Sequence=VSP_043668, VSP_038367; Note=No experimental confirmation available; Belongs to the serpin family. serine-type endopeptidase inhibitor activity receptor binding protein binding glycosaminoglycan binding extracellular region extracellular space cytosol multicellular organism development nervous system development blood coagulation heparin binding negative regulation of cell proliferation response to wounding negative regulation of peptidase activity negative regulation of platelet activation negative regulation of plasminogen activation negative regulation of sodium ion transport negative regulation of endopeptidase activity negative regulation of protein processing negative regulation of phosphatidylinositol 3-kinase signaling cerebellar granular layer morphogenesis cell differentiation negative regulation of blood coagulation negative regulation of cell growth regulation of cell migration peptidase inhibitor activity platelet alpha granule extrinsic component of external side of plasma membrane neuromuscular junction secretion by cell secretory granule organization negative regulation of protein catabolic process mating plug formation negative regulation of proteolysis negative regulation of smoothened signaling pathway regulation of timing of cell differentiation positive regulation of astrocyte differentiation detection of mechanical stimulus involved in sensory perception regulation of synaptic transmission, glutamatergic long-term synaptic potentiation innervation seminal vesicle epithelium development negative regulation of platelet aggregation extracellular vesicle uc002vnu.1 uc002vnu.2 uc002vnu.3 uc002vnu.4 
ENST00000258411.8 WNT10A ENST00000258411.8 Homo sapiens Wnt family member 10A (WNT10A), mRNA. (from RefSeq NM_025216) ENST00000258411.1 ENST00000258411.2 ENST00000258411.3 ENST00000258411.4 ENST00000258411.5 ENST00000258411.6 ENST00000258411.7 NM_025216 Q53S44 Q96TA7 Q9GZT5 Q9H7S8 WN10A_HUMAN uc002vjd.1 uc002vjd.2 uc002vjd.3 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is strongly expressed in the cell lines of promyelocytic leukemia and Burkitt's lymphoma. In addition, it and another family member, the WNT6 gene, are strongly coexpressed in colorectal cancer cell lines. The gene overexpression may play key roles in carcinogenesis through activation of the WNT-beta-catenin-TCF signaling pathway. This gene and the WNT6 gene are clustered in the chromosome 2q35 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 :: BC052234.1, AK024363.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000258411.8/ ENSP00000258411.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule important in CNS development. Is likely to signal over only few cell diameters. Secreted, extracellular space, extracellular matrix. Defects in WNT10A are a cause of ectodermal dysplasia anhidrotic (EDA) [MIM:224900]; also known ectodermal dysplasia hypohidrotic autosomal recessive (HED). Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDA is characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. Note=Most patients carrying WNT10A mutations present with sweating anomalies. However, comparison with EDA cases harboring mutations in the ectodysplasin pathway identifies some phenotypic differences. Dermatological features (anomalies of hair and sweat glands) are less severe in patients carrying WNT10A mutations and facial dysmorphism can be absent. The dental phenotype consists in microdontia, whereas teeth agenesis is more frequent in patients carrying mutations in the ectodysplasin pathway. Defects in WNT10A are a cause of odonto-onycho-dermal dysplasia (OODD) [MIM:257980]. OODD is a rare autosomal recessive ectodermal dysplasia in which the presenting phenotype is dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin. Defects in WNT10A are a cause of Schopf-Schulz-Passarge syndrome (SSPS) [MIM:224750]. SSPS is rare ectodermal dysplasia, characterized chiefly by cysts of the eyelid margins, palmoplantar keratoderma, hypodontia, hypotrichosis and nail dystrophy. Multiple eyelid apocrine hidrocystomas are the hallmark of this condition, although they usually appear in adulthood. The concomitant presence of eccrine syringofibroadenoma in most patients and of other adnexal skin tumors in some affected subjects indicates that Schopf-Schulz-Passarge syndrome is a genodermatosis with skin appendage neoplasms. Belongs to the Wnt family. hair follicle development receptor binding frizzled binding extracellular region extracellular space multicellular organism development positive regulation of gene expression neural crest cell differentiation Wnt signaling pathway neuron differentiation hair follicle morphogenesis odontogenesis regulation of odontogenesis of dentin-containing tooth tongue development skin development cell fate commitment receptor agonist activity epidermis morphogenesis sebaceous gland development canonical Wnt signaling pathway cellular response to transforming growth factor beta stimulus uc002vjd.1 uc002vjd.2 uc002vjd.3 
ENST00000258412.8 TMBIM1 ENST00000258412.8 Homo sapiens transmembrane BAX inhibitor motif containing 1 (TMBIM1), transcript variant 1, mRNA. (from RefSeq NM_022152) B3KQY6 ENST00000258412.1 ENST00000258412.2 ENST00000258412.3 ENST00000258412.4 ENST00000258412.5 ENST00000258412.6 ENST00000258412.7 LFG3 LFG3_HUMAN NM_022152 PP1201 PSEC0158 Q8N1R3 Q8TAM3 Q969X1 Q96K13 RECS1 uc002vhp.1 uc002vhp.2 uc002vhp.3 Negatively regulates aortic matrix metalloproteinase-9 (MMP9) production and may play a protective role in vascular remodeling. Membrane; Multi-pass membrane protein (By similarity). Lysosome membrane. Endosome membrane. Belongs to the BI1 family. LFG subfamily. Sequence=AAH26693.1; Type=Frameshift; Positions=6; Sequence=BAB55346.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC11636.1; Type=Erroneous initiation; Note=Translation N-terminally extended; death receptor binding lysosome lysosomal membrane endosome Golgi apparatus plasma membrane endosome membrane membrane integral component of membrane specific granule membrane negative regulation of catalytic activity intracellular membrane-bounded organelle neutrophil degranulation extracellular exosome negative regulation of extrinsic apoptotic signaling pathway via death domain receptors negative regulation of Fas signaling pathway negative regulation of protein localization to plasma membrane positive regulation of blood vessel remodeling uc002vhp.1 uc002vhp.2 uc002vhp.3 
ENST00000258415.9 CYP27A1 ENST00000258415.9 Homo sapiens cytochrome P450 family 27 subfamily A member 1 (CYP27A1), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_000784) A8K303 CP27A_HUMAN CYP27 ENST00000258415.1 ENST00000258415.2 ENST00000258415.3 ENST00000258415.4 ENST00000258415.5 ENST00000258415.6 ENST00000258415.7 ENST00000258415.8 NM_000784 Q02318 Q6LDB4 Q86YQ6 uc002viz.1 uc002viz.2 uc002viz.3 uc002viz.4 uc002viz.5 uc002viz.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 mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X59812.1, SRR3476690.1150863.1 [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 :: ENST00000258415.9/ ENSP00000258415.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Catalyzes the first step in the oxidation of the side chain of sterol intermediates; the 27-hydroxylation of 5-beta- cholestane-3-alpha,7-alpha,12-alpha-triol. Has also a vitamin D3- 25-hydroxylase activity. 5-beta-cholestane-3-alpha,7-alpha,12-alpha- triol + NADPH + O(2) = (25R)-5-beta-cholestane-3-alpha,7-alpha,12- alpha,26-tetraol + NADP(+) + H(2)O. Heme group. Hormone biosynthesis; cholecalciferol biosynthesis. Mitochondrion membrane. Defects in CYP27A1 are the cause of cerebrotendinous xanthomatosis (CTX) [MIM:213700]. CTX is a rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts. Belongs to the cytochrome P450 family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP27A1"; monooxygenase activity iron ion binding mitochondrion mitochondrial inner membrane mitochondrial matrix lipid metabolic process steroid biosynthetic process bile acid biosynthetic process cholesterol catabolic process steroid metabolic process cholesterol metabolic process steroid hydroxylase activity membrane sterol metabolic process oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen heme binding vitamin D3 25-hydroxylase activity cholesterol 26-hydroxylase activity calcitriol biosynthetic process from calciol metal ion binding cholestanetriol 26-monooxygenase activity oxidation-reduction process uc002viz.1 uc002viz.2 uc002viz.3 uc002viz.4 uc002viz.5 uc002viz.6 
ENST00000258418.10 CAB39 ENST00000258418.10 Homo sapiens calcium binding protein 39 (CAB39), transcript variant 1, mRNA. (from RefSeq NM_016289) CAB39_HUMAN CGI-66 ENST00000258418.1 ENST00000258418.2 ENST00000258418.3 ENST00000258418.4 ENST00000258418.5 ENST00000258418.6 ENST00000258418.7 ENST00000258418.8 ENST00000258418.9 MO25 NM_016289 Q9Y376 uc002vqx.1 uc002vqx.2 uc002vqx.3 uc002vqx.4 uc002vqx.5 Component of a complex that binds and activates STK11/LKB1. In the complex, required to stabilize the interaction between CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta) and STK11/LKB1. 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. Q15831:STK11; NbExp=4; IntAct=EBI-306905, EBI-306838; Q9C0K7:STRADB; NbExp=5; IntAct=EBI-306905, EBI-306893; Cytoplasm (Potential). Belongs to the Mo25 family. protein serine/threonine kinase activity protein binding extracellular region cytoplasm cytosol cell cycle arrest positive regulation of peptidyl-threonine phosphorylation peptidyl-serine phosphorylation kinase binding signal transduction by protein phosphorylation protein kinase activator activity activation of protein kinase activity macromolecular complex secretory granule lumen intracellular signal transduction neutrophil degranulation protein serine/threonine kinase activator activity protein heterooligomerization extracellular exosome cellular hypotonic response positive regulation of protein serine/threonine kinase activity negative regulation of potassium ion transmembrane transporter activity negative regulation of potassium ion transmembrane transport serine/threonine protein kinase complex ficolin-1-rich granule lumen uc002vqx.1 uc002vqx.2 uc002vqx.3 uc002vqx.4 uc002vqx.5 
ENST00000258424.3 COX5B ENST00000258424.3 Homo sapiens cytochrome c oxidase subunit 5B (COX5B), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001862) COX5B_HUMAN ENST00000258424.1 ENST00000258424.2 NM_001862 P10606 Q53YB7 Q96J18 Q99610 uc002sya.1 uc002sya.2 uc002sya.3 uc002sya.4 uc002sya.5 Cytochrome C oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Vb of the human mitochondrial respiratory chain enzyme. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: CB110753.1, CB109633.1 [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 :: ENST00000258424.3/ ENSP00000258424.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. Mitochondrion inner membrane. Belongs to the cytochrome c oxidase subunit 5B family. cytochrome-c oxidase activity protein binding mitochondrion mitochondrial envelope mitochondrial inner membrane mitochondrial electron transport, cytochrome c to oxygen respiratory gaseous exchange membrane mitochondrial ATP synthesis coupled proton transport metal ion binding uc002sya.1 uc002sya.2 uc002sya.3 uc002sya.4 uc002sya.5 
ENST00000258428.8 REV1 ENST00000258428.8 Homo sapiens REV1 DNA directed polymerase (REV1), transcript variant 12, non-coding RNA. (from RefSeq NR_135653) ENST00000258428.1 ENST00000258428.2 ENST00000258428.3 ENST00000258428.4 ENST00000258428.5 ENST00000258428.6 ENST00000258428.7 NR_135653 O95941 Q53SI7 Q9C0J4 Q9NUP2 Q9UBZ9 REV1L REV1_HUMAN uc002tad.1 uc002tad.2 uc002tad.3 uc002tad.4 uc002tad.5 This gene encodes a protein with similarity to the S. cerevisiae mutagenesis protein Rev1. The Rev1 proteins contain a BRCT domain, which is important in protein-protein interactions. A suggested role for the human Rev1-like protein is as a scaffold that recruits DNA polymerases involved in translesion synthesis (TLS) of damaged DNA. [provided by RefSeq, Mar 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803615.176871.1 [ECO:0000332] ##Evidence-Data-END## Deoxycytidyl transferase involved in DNA repair. Transfers a dCMP residue from dCTP to the 3'-end of a DNA primer in a template-dependent reaction. May assist in the first step in the bypass of abasic lesions by the insertion of a nucleotide opposite the lesion. Required for normal induction of mutations by physical and chemical agents. Monomer. Interacts with the DNA polymerase zeta which is composed of REV3L and MAD2L2; the interaction with MAD2L2 is direct and requires that REV3L is in its closed conformation. Interacts with POLH, POLI and POLK. May bind ITGA3. Interacts with FAAP20/C1orf86. Nucleus (Probable). Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=REV1; IsoId=Q9UBZ9-1; Sequence=Displayed; Name=2; Synonyms=REV1S; IsoId=Q9UBZ9-2; Sequence=VSP_012812; Name=3; IsoId=Q9UBZ9-3; Sequence=VSP_012809, VSP_012810, VSP_012811; Note=No experimental confirmation available; Ubiquitous. The C-terminal domain is necessary for protein interactions. Belongs to the DNA polymerase type-Y family. Contains 1 BRCT domain. Contains 1 umuC domain. Sequence=AAK43708.1; Type=Erroneous initiation; DNA binding damaged DNA binding DNA-directed DNA polymerase activity protein binding nucleus nucleoplasm DNA replication DNA repair cellular response to DNA damage stimulus response to UV transferase activity nucleotidyltransferase activity deoxycytidyl transferase activity translesion synthesis error-prone translesion synthesis metal ion binding error-free translesion synthesis DNA biosynthetic process uc002tad.1 uc002tad.2 uc002tad.3 uc002tad.4 uc002tad.5 
ENST00000258436.10 MFSD9 ENST00000258436.10 Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), transcript variant 5, non-coding RNA. (from RefSeq NR_136174) ENST00000258436.1 ENST00000258436.2 ENST00000258436.3 ENST00000258436.4 ENST00000258436.5 ENST00000258436.6 ENST00000258436.7 ENST00000258436.8 ENST00000258436.9 MFSD9_HUMAN NR_136174 PSEC0066 Q4ZG89 Q53TU0 Q8NBP5 Q96GQ4 Q9BRI8 uc002tcb.1 uc002tcb.2 uc002tcb.3 uc002tcb.4 Membrane; Multi-pass membrane protein (Potential). Belongs to the major facilitator superfamily. integral component of plasma membrane membrane integral component of membrane transmembrane transporter activity transmembrane transport uc002tcb.1 uc002tcb.2 uc002tcb.3 uc002tcb.4 
ENST00000258439.8 TMEM127 ENST00000258439.8 Homo sapiens transmembrane protein 127 (TMEM127), transcript variant 1, mRNA. (from RefSeq NM_017849) D3DXH0 ENST00000258439.1 ENST00000258439.2 ENST00000258439.3 ENST00000258439.4 ENST00000258439.5 ENST00000258439.6 ENST00000258439.7 NM_017849 O75204 TM127_HUMAN uc002svq.1 uc002svq.2 uc002svq.3 uc002svq.4 uc002svq.5 This gene encodes a transmembrane protein with 3 predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate in protein trafficking between these structures. Mutations in this gene and several other genes cause pheochromocytomas. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2010]. Controls cell proliferation acting as a negative regulator of TOR signaling pathway mediated by mTORC1. May act as a tumor suppressor. Cell membrane; Multi-pass membrane protein. Cytoplasm. Note=Association of TMEM127 with the cell membrane is enhanced by inhibition of endocytosis. In the cytoplasm, it colocalizes with markers of early endosomal structures, Golgi apparatus and lysosomes. Widely expressed. Defects in TMEM127 are a cause of susceptibility to pheochromocytoma (PCC) [MIM:171300]. A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. Consistent with the observation that mTORC1 signaling regulates cell growth and size in many species, TMEM127 knockdown cells are larger and proliferate at higher rates compared to control cell lines. In contrast, cell proliferation is reduced in cells overexpressing TMEM127 (PubMed:20154675). Belongs to the TMEM127 family. molecular_function cytoplasm early endosome plasma membrane endosome organization negative regulation of cell proliferation membrane integral component of membrane Rab GTPase binding regulation of TOR signaling negative regulation of TOR signaling uc002svq.1 uc002svq.2 uc002svq.3 uc002svq.4 uc002svq.5 
ENST00000258443.7 EDAR ENST00000258443.7 Homo sapiens ectodysplasin A receptor (EDAR), mRNA. (from RefSeq NM_022336) D3DX74 DL EDAR_HUMAN ENST00000258443.1 ENST00000258443.2 ENST00000258443.3 ENST00000258443.4 ENST00000258443.5 ENST00000258443.6 NM_022336 Q52LL5 Q9UND9 Q9UNE0 uc002teq.1 uc002teq.2 uc002teq.3 uc002teq.4 uc002teq.5 This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [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 :: AF130988.1, AK313781.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000258443.7/ ENSP00000258443.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Receptor for EDA isoform A1, but not for EDA isoform A2. Mediates the activation of NF-kappa-B and JNK. May promote caspase-independent cell death. Binds to EDARADD. Associates with TRAF1, TRAF2, TRAF3 and NIK. Membrane; Single-pass type I membrane protein (Probable). Detected in fetal kidney, lung, skin and cultured neonatal epidermal keratinocytes. Not detected in lymphoblast and fibroblast cell lines. Found in craniofacial tissues from embryonic day 42-53. Expressed in fetal skin 11 and 15 weeks after gestation. Genetic variation in EDAR is associated with variations in head hair thickness and defines the hair morphology locus 1 (HRM1) [MIM:612630]. Besides skin color and facial features, hair morphology is one of the most distinctive traits among human populations, and classical classification of human population is based on such visible traits. Defects in EDAR are a cause of ectodermal dysplasia anhidrotic (EDA) [MIM:224900]; also known ectodermal dysplasia hypohidrotic autosomal recessive (HED). Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDA is characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. Defects in EDAR are the cause of ectodermal dysplasia type 3 (ED3) [MIM:129490]; also known as ectodermal dysplasia hypohidrotic autosomal dominant or EDA3. ED3 is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands. Contains 1 death domain. Contains 3 TNFR-Cys repeats. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EDAR"; hair follicle development transmembrane signaling receptor activity protein binding plasma membrane apoptotic process multicellular organism development epidermis development positive regulation of gene expression membrane integral component of membrane cell differentiation tumor necrosis factor-mediated signaling pathway signaling receptor activity odontogenesis of dentin-containing tooth positive regulation of I-kappaB kinase/NF-kappaB signaling pigmentation apical part of cell positive regulation of JNK cascade salivary gland cavitation positive regulation of NIK/NF-kappaB signaling uc002teq.1 uc002teq.2 uc002teq.3 uc002teq.4 uc002teq.5 
ENST00000258455.8 MRPS9 ENST00000258455.8 Homo sapiens mitochondrial ribosomal protein S9 (MRPS9), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_182640) ENST00000258455.1 ENST00000258455.2 ENST00000258455.3 ENST00000258455.4 ENST00000258455.5 ENST00000258455.6 ENST00000258455.7 NM_182640 P82933 Q6PG40 RPMS9 RT09_HUMAN uc002tcn.1 uc002tcn.2 uc002tcn.3 uc002tcn.4 uc002tcn.5 uc002tcn.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. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR5189664.174354.1, SRR5189667.233727.1 [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 :: ENST00000258455.8/ ENSP00000258455.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Component of the mitochondrial ribosome small subunit (28S) which comprises a 12S rRNA and about 30 distinct proteins (By similarity). P04618:rev (xeno); NbExp=2; IntAct=EBI-721385, EBI-6164309; Mitochondrion. Belongs to the ribosomal protein S9P family. maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) RNA binding structural constituent of ribosome protein binding nucleolus mitochondrion mitochondrial inner membrane mitochondrial small ribosomal subunit ribosome translation DNA damage response, detection of DNA damage mitochondrial translational elongation mitochondrial translational termination uc002tcn.1 uc002tcn.2 uc002tcn.3 uc002tcn.4 uc002tcn.5 uc002tcn.6 
ENST00000258456.3 GPR45 ENST00000258456.3 Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA. (from RefSeq NM_007227) ENST00000258456.1 ENST00000258456.2 GPR45_HUMAN NM_007227 Q6NWS4 Q6NXU6 Q9Y5Y3 uc002tco.1 uc002tco.2 uc002tco.3 This intronless gene encodes a member of the G protein-coupled receptor (GPCR) family. Members of this protein family contain seven putative transmembrane domains and may mediate signaling processes to the interior of the cell via activation of heterotrimeric G proteins. This protein may function 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. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000258456.3/ ENSP00000258456.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Orphan receptor. May play a role in brain function. Cell membrane; Multi-pass membrane protein. Expressed in brain; detected in the basal forebrain, frontal cortex, and caudate, but not in thalamus, hippocampus, or putamen. Belongs to the G-protein coupled receptor 1 family. G-protein coupled receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway membrane integral component of membrane uc002tco.1 uc002tco.2 uc002tco.3 
ENST00000258457.7 C2orf49 ENST00000258457.7 Homo sapiens chromosome 2 open reading frame 49 (C2orf49), transcript variant 1, mRNA. (from RefSeq NM_024093) ASHWN_HUMAN B3KXN3 ENST00000258457.1 ENST00000258457.2 ENST00000258457.3 ENST00000258457.4 ENST00000258457.5 ENST00000258457.6 NM_024093 Q9BVC5 uc002tcs.1 uc002tcs.2 uc002tcs.3 uc002tcs.4 Component of the tRNA-splicing ligase complex. Belongs to the ashwin family. molecular_function nucleoplasm tRNA splicing, via endonucleolytic cleavage and ligation biological_process embryonic morphogenesis tRNA-splicing ligase complex uc002tcs.1 uc002tcs.2 uc002tcs.3 uc002tcs.4 
ENST00000258484.11 EPC2 ENST00000258484.11 Homo sapiens enhancer of polycomb homolog 2 (EPC2), mRNA. (from RefSeq NM_015630) B3KWT7 D3DP89 ENST00000258484.1 ENST00000258484.10 ENST00000258484.2 ENST00000258484.3 ENST00000258484.4 ENST00000258484.5 ENST00000258484.6 ENST00000258484.7 ENST00000258484.8 ENST00000258484.9 EPC2_HUMAN NM_015630 Q52LR7 Q7L9J1 Q96RR7 Q9NUT8 Q9NVR1 Q9UFM9 uc010zbt.1 uc010zbt.2 uc010zbt.3 uc010zbt.4 May play a role in transcription or DNA repair (By similarity). Nucleus (By similarity). Belongs to the enhancer of polycomb family. Sequence=AAH93818.1; Type=Erroneous initiation; Sequence=AAH93820.1; Type=Erroneous initiation; Sequence=AAK60500.1; Type=Erroneous initiation; Sequence=BAA91688.1; Type=Erroneous initiation; Sequence=BAA92032.1; Type=Erroneous initiation; nucleus DNA repair chromatin organization regulation of transcription from RNA polymerase II promoter cellular response to DNA damage stimulus histone acetylation Piccolo NuA4 histone acetyltransferase complex NuA4 histone acetyltransferase complex histone acetyltransferase activity uc010zbt.1 uc010zbt.2 uc010zbt.3 uc010zbt.4 
ENST00000258494.14 ALDH1L2 ENST00000258494.14 Homo sapiens aldehyde dehydrogenase 1 family member L2 (ALDH1L2), transcript variant 2, non-coding RNA. (from RefSeq NR_027752) AL1L2_HUMAN ENST00000258494.1 ENST00000258494.10 ENST00000258494.11 ENST00000258494.12 ENST00000258494.13 ENST00000258494.2 ENST00000258494.3 ENST00000258494.4 ENST00000258494.5 ENST00000258494.6 ENST00000258494.7 ENST00000258494.8 ENST00000258494.9 NR_027752 Q3SY68 Q3SY69 Q68D62 Q6AI55 Q8N922 uc001tlc.1 uc001tlc.2 uc001tlc.3 uc001tlc.4 uc001tlc.5 This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 in an NADP(+)-dependent reaction, and plays an essential role in the distribution of one-carbon groups between the cytosolic and mitochondrial compartments of the cell. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010]. 10-formyltetrahydrofolate + NADP(+) + H(2)O = tetrahydrofolate + CO(2) + NADPH. Mitochondrion. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q3SY69-1; Sequence=Displayed; Name=2; IsoId=Q3SY69-2; Sequence=VSP_030752, VSP_030753; Note=No experimental confirmation available; Name=3; IsoId=Q3SY69-3; Sequence=VSP_030754, VSP_030755; Note=No experimental confirmation available; Highly expressed in pancreas, heart, brain and skeletal muscle. In the N-terminal section; belongs to the GART family. In the C-terminal section; belongs to the aldehyde dehydrogenase family. ALDH1L subfamily. Contains 1 acyl carrier domain. Sequence=AAI03936.1; Type=Erroneous translation; Note=Wrong choice of CDS; catalytic activity aldehyde dehydrogenase (NAD) activity nucleus cytoplasm mitochondrion mitochondrial matrix one-carbon metabolic process biosynthetic process 10-formyltetrahydrofolate catabolic process formyltetrahydrofolate dehydrogenase activity oxidoreductase activity oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor hydroxymethyl-, formyl- and related transferase activity folic acid metabolic process oxidation-reduction process extracellular exosome uc001tlc.1 uc001tlc.2 uc001tlc.3 uc001tlc.4 uc001tlc.5 
ENST00000258499.8 USP44 ENST00000258499.8 Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 1, mRNA. (from RefSeq NM_032147) B2RDW3 ENST00000258499.1 ENST00000258499.2 ENST00000258499.3 ENST00000258499.4 ENST00000258499.5 ENST00000258499.6 ENST00000258499.7 NM_032147 Q9H0E7 UBP44_HUMAN uc001teh.1 uc001teh.2 uc001teh.3 uc001teh.4 uc001teh.5 uc001teh.6 The protein encoded by this gene is a protease that functions as a deubiquitinating enzyme. The encoded protein is thought to help regulate the spindle assembly checkpoint by preventing early anaphase onset. This protein specifically deubiquitinates CDC20, which stabilizes the anaphase promoting complex/cyclosome. [provided by RefSeq, Dec 2016]. Deubiquitinase that plays a key regulatory role in the spindle assembly checkpoint or mitotic checkpoint by preventing premature anaphase onset. Acts by specifically mediating deubiquitination of CDC20, a negative regulator of the anaphase promoting complex/cyclosome (APC/C). Deubiquitination of CDC20 leads to stabilize the MAD2L1-CDC20-APC/C ternary complex (also named mitotic checkpoint complex), thereby preventing premature activation of the APC/C. Promotes association of MAD2L1 with CDC20 and reinforces the spindle assembly checkpoint. Acts as a negative regulator of histone H2B (H2BK120ub1) ubiquitination. 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). Nucleus. Note=Peaks in interphase, with relatively low levels maintained throughout mitosis (By similarity). Expressed in testis. Expressed at high levels in T-cell acute lymphoblastic leukemia. Elevated in mitosis; levels increase in mitotic cells and rapidly decrease once cells have completed chromosome attachment and exit from mitosis. Transcriptionally regulated by POU5F1/OCT4 in embryonic stem cells and embryonal carcinoma cells. Dephosphorylated by CTDP1. Ubiquitinated; undergoes both 'Lys-48'- and 'Lys-63'-linked polyubiquitination and is degraded by the proteasome. Belongs to the peptidase C19 family. USP44 subfamily. Contains 1 UBP-type zinc finger. thiol-dependent ubiquitin-specific protease activity protein binding nucleus nucleoplasm proteolysis ubiquitin-dependent protein catabolic process cell cycle chromosome segregation peptidase activity cysteine-type peptidase activity zinc ion binding protein deubiquitination hydrolase activity thiol-dependent ubiquitinyl hydrolase activity proteasome-mediated ubiquitin-dependent protein catabolic process metal ion binding cell division regulation of mitotic cell cycle spindle assembly checkpoint negative regulation of ubiquitin protein ligase activity uc001teh.1 uc001teh.2 uc001teh.3 uc001teh.4 uc001teh.5 uc001teh.6 
ENST00000258526.9 PLXNC1 ENST00000258526.9 Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA. (from RefSeq NM_005761) ENST00000258526.1 ENST00000258526.2 ENST00000258526.3 ENST00000258526.4 ENST00000258526.5 ENST00000258526.6 ENST00000258526.7 ENST00000258526.8 NM_005761 O60486 PLXC1_HUMAN Q59H25 VESPR uc001tdc.1 uc001tdc.2 uc001tdc.3 uc001tdc.4 This gene encodes a member of the plexin family. Plexins are transmembrane receptors for semaphorins, a large family of proteins that regulate axon guidance, cell motility and migration, and the immune response. The encoded protein and its ligand regulate melanocyte adhesion, and viral semaphorins may modulate the immune response by binding to this receptor. The encoded protein may be a tumor suppressor protein for melanoma. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011]. Receptor for SEMA7A, for smallpox semaphorin A39R, vaccinia virus semaphorin A39R and for herpesvirus Sema protein. Binding of semaphorins triggers cellular responses leading to the rearrangement of the cytoskeleton and to secretion of IL6 and IL8 (By similarity). Monomer. Homodimer. Interacts with SEMA7A. Q8JL80:EVM139 (xeno); NbExp=3; IntAct=EBI-2927384, EBI-2927425; O75326:SEMA7A; NbExp=4; IntAct=EBI-2927384, EBI-1753538; Membrane; Single-pass type I membrane protein (Potential). Detected in heart, brain, lung, spleen and placenta. N-glycosylated. Belongs to the plexin family. Contains 1 Sema domain. semaphorin receptor complex receptor binding protein binding plasma membrane integral component of plasma membrane cell adhesion negative regulation of cell adhesion signal transduction regulation of cell shape membrane integral component of membrane semaphorin receptor activity regulation of cell migration regulation of GTPase activity positive regulation of axonogenesis semaphorin-plexin signaling pathway semaphorin-plexin signaling pathway involved in axon guidance uc001tdc.1 uc001tdc.2 uc001tdc.3 uc001tdc.4 
ENST00000258530.8 APPL2 ENST00000258530.8 Homo sapiens adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 (APPL2), transcript variant 1, mRNA. (from RefSeq NM_018171) DIP13B DP13B_HUMAN ENST00000258530.1 ENST00000258530.2 ENST00000258530.3 ENST00000258530.4 ENST00000258530.5 ENST00000258530.6 ENST00000258530.7 NM_018171 Q8N4R7 Q8NEU8 Q9NVL2 uc001tlf.1 uc001tlf.2 uc001tlf.3 The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]. Required for the regulation of cell proliferation in response to extracellular signals mediated by an early endosomal compartment. Links Rab5 to nuclear signal transduction. Binds RAB5A/Rab5 through an N-terminal domain. This interaction is essential for its recruitment to endosomal membranes as well as its role in cell proliferation. Binds subunits of the NuRD/MeCP1 complex. Early endosome membrane; Peripheral membrane protein. Nucleus. Note=Early endosomal membrane-bound and nuclear. Translocated into the nucleus upon release from endosomal membranes following internalization of EGF. High levels in brain, heart, kidney and skeletal muscle. Note=A chromosomal aberration involving APPL2/DIP13B is found in patients with chromosome 22q13.3 deletion syndrome. Translocation t(12;22)(q24.1;q13.3) with SHANK3/PSAP2. Contains 1 PH domain. Contains 1 PID domain. ruffle phosphatidylserine binding diet induced thermogenesis protein binding nucleus cytoplasm endosome plasma membrane protein import into nucleus cell cycle signal transduction transforming growth factor beta receptor signaling pathway cell proliferation cold acclimation endosome membrane regulation of fibroblast migration membrane signaling phagocytic vesicle membrane cytoplasmic vesicle early endosome membrane vesicle early phagosome ruffle membrane adiponectin-activated signaling pathway regulation of toll-like receptor 4 signaling pathway phosphatidylinositol binding cellular response to hepatocyte growth factor stimulus early phagosome membrane glucose homeostasis protein homodimerization activity cell projection macropinosome macromolecular complex binding regulation of innate immune response phagocytic vesicle negative regulation of fatty acid oxidation negative regulation of glucose import negative regulation of neurogenesis protein homotetramerization positive regulation of phagocytosis, engulfment extracellular exosome negative regulation of cytokine production involved in inflammatory response negative regulation of cellular response to insulin stimulus positive regulation of macropinocytosis positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis negative regulation of neural precursor cell proliferation uc001tlf.1 uc001tlf.2 uc001tlf.3 
ENST00000258534.13 DRAM1 ENST00000258534.13 Homo sapiens DNA damage regulated autophagy modulator 1 (DRAM1), mRNA. (from RefSeq NM_018370) DRAM DRAM1_HUMAN ENST00000258534.1 ENST00000258534.10 ENST00000258534.11 ENST00000258534.12 ENST00000258534.2 ENST00000258534.3 ENST00000258534.4 ENST00000258534.5 ENST00000258534.6 ENST00000258534.7 ENST00000258534.8 ENST00000258534.9 NM_018370 Q7L3E3 Q8N682 Q9NUN1 uc001tix.1 uc001tix.2 uc001tix.3 uc001tix.4 uc001tix.5 This gene is regulated as part of the p53 tumor suppressor pathway. The gene encodes a lysosomal membrane protein that is required for the induction of autophagy by the pathway. Decreased transcriptional expression of this gene is associated with various tumors. This gene has a pseudogene on chromosome 4. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.41122.1, SRR1803612.215939.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000258534.13/ ENSP00000258534.8 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Lysosomal modulator of autophagy that plays a central role in p53/TP53-mediated apoptosis. Not involved in p73/TP73- mediated autophagy. Lysosome membrane; Multi-pass membrane protein. By p53/TP53 and p73/TP73. Directly activated by p53/TP53. Significantly down-regulated in tumor cell lines by methylation-dependent transcriptional silencing. Belongs to the DRAM/TMEM150 family. Sequence=BAA92091.1; Type=Erroneous initiation; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/DRAMID44093ch12q23.html"; protein binding cytoplasm lysosome lysosomal membrane autophagy apoptotic process regulation of autophagy membrane integral component of membrane uc001tix.1 uc001tix.2 uc001tix.3 uc001tix.4 uc001tix.5 
ENST00000258538.8 SLC41A2 ENST00000258538.8 Homo sapiens solute carrier family 41 member 2 (SLC41A2), transcript variant 1, mRNA. (from RefSeq NM_032148) ENST00000258538.1 ENST00000258538.2 ENST00000258538.3 ENST00000258538.4 ENST00000258538.5 ENST00000258538.6 ENST00000258538.7 NM_032148 Q3KP68 Q96JW4 Q9H0E5 S41A2_HUMAN uc001tla.1 uc001tla.2 uc001tla.3 uc001tla.4 uc001tla.5 Acts as a plasma-membrane magnesium transporter. Cell membrane; Multi-pass membrane protein. Belongs to the SLC41A transporter family. Sequence=AAH36734.1; Type=Erroneous initiation; Sequence=AAI06872.2; Type=Erroneous initiation; Sequence=AAI06873.2; Type=Erroneous initiation; Sequence=BAB55402.1; Type=Frameshift; Positions=69, 101, 103; Sequence=CAB66762.1; Type=Erroneous initiation; protein binding plasma membrane ion transport cation transport cation transmembrane transporter activity membrane integral component of membrane divalent metal ion transport divalent inorganic cation transmembrane transporter activity cation transmembrane transport uc001tla.1 uc001tla.2 uc001tla.3 uc001tla.4 uc001tla.5 
ENST00000258607.10 CKAP2 ENST00000258607.10 Homo sapiens cytoskeleton associated protein 2 (CKAP2), transcript variant 1, mRNA. (from RefSeq NM_018204) A2BDE0 A5YM58 CKAP2_HUMAN ENST00000258607.1 ENST00000258607.2 ENST00000258607.3 ENST00000258607.4 ENST00000258607.5 ENST00000258607.6 ENST00000258607.7 ENST00000258607.8 ENST00000258607.9 LB1 NM_018204 Q3KRA5 Q5VXB4 Q8IWV5 Q8IWV6 Q8WWK9 Q96FH9 Q9H012 Q9H0D0 Q9H988 Q9HC49 Q9NVG4 TMAP uc001vgu.1 uc001vgu.2 uc001vgu.3 uc001vgu.4 uc001vgu.5 This gene encodes a cytoskeleton-associated protein that stabalizes microtubules and plays a role in the regulation of cell division. The encoded protein is itself regulated through phosphorylation at multiple serine and threonine residues. There is a pseudogene of this gene on chromosome 14. Alternative splicing results in multiple transcript variations. [provided by RefSeq, Nov 2013]. Possesses microtubule stabilizing properties. Involved in regulating aneuploidy, cell cycling, and cell death in a p53/TP53-dependent manner (By similarity). Associates with alpha- and beta-tubulins (By similarity). Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Note=Contrary to the ectopically expressed protein, endogenous CKAP2 does not colocalize with microtubules in G1, S and early G2. At late G2 and prophase after separation of duplicated centrosomes, colocalizes with gamma-tubulin and centrosome- proximal microtubules. From prometaphase through anaphase B, colocalizes with mitotic spindle poles and spindle microtubules. During cytokinesis, absent from midbody microtubules. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8WWK9-1; Sequence=Displayed; Name=2; IsoId=Q8WWK9-2; Sequence=VSP_052093, VSP_052094; Note=No experimental confirmation available; Name=3; IsoId=Q8WWK9-3; Sequence=VSP_052094; Abundant in testis, thymus, and in tumor derived cell lines, while barely detectable in liver, prostate, and kidney. Present at the G1/S boundary. Accumulates as cells progress from S to G2 into mitosis. Rapidly degraded during mitosis exit by CDH1-activated anaphase promoting complex/cyclosome (APC/C). Up-regulated in primary human gastric cancers. Belongs to the CKAP2 family. Sequence=AAG33675.1; Type=Frameshift; Positions=607; Sequence=AAH10901.1; Type=Erroneous initiation; Sequence=AAI05807.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAA91788.1; Type=Erroneous initiation; mitotic cytokinesis spindle pole cytoplasm centrosome spindle cytosol cytoskeleton microtubule cytoplasmic microtubule apoptotic process negative regulation of microtubule depolymerization cell cycle microtubule cytoskeleton positive regulation of transcription from RNA polymerase II promoter uc001vgu.1 uc001vgu.2 uc001vgu.3 uc001vgu.4 uc001vgu.5 
ENST00000258613.5 THSD1 ENST00000258613.5 Homo sapiens thrombospondin type 1 domain containing 1 (THSD1), transcript variant 1, mRNA. (from RefSeq NM_018676) A2A3J3 B2RCF5 ENST00000258613.1 ENST00000258613.2 ENST00000258613.3 ENST00000258613.4 NM_018676 Q6P3U1 Q6UXZ2 Q9NS62 THSD1_HUMAN TMTSP UNQ3010/PRO9769 uc001vgo.1 uc001vgo.2 uc001vgo.3 uc001vgo.4 uc001vgo.5 The protein encoded by this gene contains a type 1 thrombospondin domain, which is found in a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jan 2009]. Isoform 1: Membrane; Single-pass type I membrane protein (Potential). Isoform 2: Membrane; Single-pass type I membrane protein (Potential). Isoform 3: Secreted. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NS62-1; Sequence=Displayed; Name=2; IsoId=Q9NS62-2; Sequence=VSP_020521; Name=3; IsoId=Q9NS62-3; Sequence=VSP_020522, VSP_020523; Contains 1 TSP type-1 domain. extracellular region cytosol membrane integral component of membrane uc001vgo.1 uc001vgo.2 uc001vgo.3 uc001vgo.4 uc001vgo.5 
ENST00000258648.7 MED4 ENST00000258648.7 Homo sapiens mediator complex subunit 4 (MED4), transcript variant 1, mRNA. (from RefSeq NM_014166) ARC36 DRIP36 ENST00000258648.1 ENST00000258648.2 ENST00000258648.3 ENST00000258648.4 ENST00000258648.5 ENST00000258648.6 HSPC126 MED4_HUMAN NM_014166 Q53GB4 Q53H68 Q5T912 Q6FHC4 Q6IA79 Q9BS95 Q9NPJ6 Q9NYR5 VDRIP uc001vby.1 uc001vby.2 uc001vby.3 uc001vby.4 This gene encodes a component of the Mediator complex. The Mediator complex interacts with DNA-binding gene-specific transcription factors to modulate transcription by RNA polymerase II. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. Q9NWA0:MED9; NbExp=8; IntAct=EBI-394607, EBI-394653; Nucleus. Belongs to the Mediator complex subunit 4 family. transcription cofactor activity protein binding nucleus nucleoplasm regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter membrane mediator complex ligand-dependent nuclear receptor transcription coactivator activity vitamin D receptor binding positive regulation of transcription, DNA-templated thyroid hormone receptor binding core mediator complex uc001vby.1 uc001vby.2 uc001vby.3 uc001vby.4 
ENST00000258662.3 NUDT15 ENST00000258662.3 Homo sapiens nudix hydrolase 15 (NUDT15), transcript variant 1, mRNA. (from RefSeq NM_018283) A2RUR6 ENST00000258662.1 ENST00000258662.2 MTH2 NM_018283 NUD15_HUMAN Q32Q27 Q6P2C9 Q9NV35 uc001vbw.1 uc001vbw.2 uc001vbw.3 This gene encodes an enzyme that belongs to the Nudix hydrolase superfamily. Members of this superfamily catalyze the hydrolysis of nucleoside diphosphates, including substrates like 8-oxo-dGTP, which are a result of oxidative damage, and can induce base mispairing during DNA replication, causing transversions. The encoded enzyme is a negative regulator of thiopurine activation and toxicity. Mutations in this gene result in poor metabolism of thiopurines, and are associated with thiopurine-induced early leukopenia. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Apr 2016]. Mediates the hydrolysis of some nucleoside diphosphate derivatives. Can degrade 8-oxo-dGTP in vitro, suggesting that it may remove an oxidatively damaged form of guanine (7,8-dihydro-8- oxoguanine) from DNA and the nucleotide pool, thereby preventing misincorporation of 8-oxo-dGTP into DNA thus preventing A:T to C:G transversions. Its substrate specificity in vivo however remains unclear (By similarity). May have a role in DNA synthesis and cell cycle progression through the interaction with PCNA. 8-oxo-dGTP + H(2)O = 8-oxo-dGMP + diphosphate. Magnesium or manganese. Magnesium may be the real cofactor in vivo (By similarity). Interacts with PCNA; interaction is disrupted in response to UV irradiation. Belongs to the Nudix hydrolase family. Contains 1 nudix hydrolase domain. mitotic cell cycle response to reactive oxygen species nucleotide diphosphatase activity protein binding cytosol purine nucleotide catabolic process dGTP catabolic process 8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity purine deoxyribonucleoside triphosphate catabolic process hydrolase activity nucleoside-diphosphatase activity nucleobase-containing small molecule catabolic process NADH pyrophosphatase activity 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity DNA protection exogenous drug catabolic process metal ion binding nucleoside-triphosphate diphosphatase activity regulation of proteasomal protein catabolic process nucleoside phosphate catabolic process uc001vbw.1 uc001vbw.2 uc001vbw.3 
ENST00000258704.3 SPDYE1 ENST00000258704.3 Homo sapiens speedy/RINGO cell cycle regulator family member E1 (SPDYE1), transcript variant 2, mRNA. (from RefSeq NM_175064) ENST00000258704.1 ENST00000258704.2 NM_175064 Q8NFV5 Q9NTH5 SPDE1_HUMAN WBSCR19 uc003tjf.1 uc003tjf.2 uc003tjf.3 uc003tjf.4 This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AF412027.1, AL137266.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on expression ##RefSeq-Attributes-END## Note=SPDYE1 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 Speedy/Ringo family. protein kinase binding uc003tjf.1 uc003tjf.2 uc003tjf.3 uc003tjf.4 
ENST00000258711.7 CHST12 ENST00000258711.7 Homo sapiens carbohydrate sulfotransferase 12 (CHST12), transcript variant 1, mRNA. (from RefSeq NM_001243794) A4D1Z9 CHSTC_HUMAN ENST00000258711.1 ENST00000258711.2 ENST00000258711.3 ENST00000258711.4 ENST00000258711.5 ENST00000258711.6 NM_001243794 Q502W3 Q9NRB3 Q9NXY7 UNQ500/PRO1017 uc003smc.1 uc003smc.2 uc003smc.3 uc003smc.4 The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin and desulfated dermatan sulfate. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. Alternatively spliced transcript variants differing only in their 5' UTRs have been found for this gene. [provided by RefSeq, Aug 2011]. Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin and desulfated dermatan sulfate. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Activity toward partially desulfated dermatan sulfate is however lower. Does not form 4, 6-di-O-sulfated GalNAc when chondroitin sulfate C is used as an acceptor. 3'-phosphoadenylyl sulfate + chondroitin = adenosine 3',5'-bisphosphate + chondroitin 4'-sulfate. Q9NYU2:UGGT1; NbExp=1; IntAct=EBI-1042837, EBI-1056389; Golgi apparatus membrane; Single-pass type II membrane protein (By similarity). Widely expressed. Expressed a high level in spinal chord, heart, spleen, thyroid, pituitary gland, adrenal gland, peripheral blood leukocytes, thymus, lung, small intestine, fetal kidney, fetal spleen and fetal lung. Belongs to the sulfotransferase 2 family. Golgi membrane Golgi apparatus carbohydrate metabolic process sulfotransferase activity membrane integral component of membrane carbohydrate biosynthetic process transferase activity proteoglycan biosynthetic process integral component of Golgi membrane chondroitin sulfate biosynthetic process dermatan sulfate biosynthetic process chondroitin 4-sulfotransferase activity 3'-phosphoadenosine 5'-phosphosulfate binding uc003smc.1 uc003smc.2 uc003smc.3 uc003smc.4 
ENST00000258729.8 IGF2BP3 ENST00000258729.8 Homo sapiens insulin like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA. (from RefSeq NM_006547) A0A4Z5 ENST00000258729.1 ENST00000258729.2 ENST00000258729.3 ENST00000258729.4 ENST00000258729.5 ENST00000258729.6 ENST00000258729.7 IF2B3_HUMAN IMP3 KOC1 NM_006547 O00425 Q63HM0 Q6MZZ2 Q86VB1 VICKZ3 uc003swg.1 uc003swg.2 uc003swg.3 uc003swg.4 uc003swg.5 The protein encoded by this gene is primarily found in the nucleolus, where it can bind to the 5' UTR of the insulin-like growth factor II leader 3 mRNA and may repress translation of insulin-like growth factor II during late development. The encoded protein contains several KH domains, which are important in RNA binding and are known to be involved in RNA synthesis and metabolism. A pseudogene exists on chromosome 7, and there are putative pseudogenes on other 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 :: AF117108.1, U76705.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000258729.8/ ENSP00000258729.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## RNA-binding protein that act as a regulator of mRNA translation and stability. Binds to the 5'-UTR of the insulin-like growth factor 2 (IGF2) mRNAs. Binds to sequences in the 3'-UTR of CD44 mRNA. Homodimer and multimer (By similarity). Interacts with IGF2BP1. Nucleus. Cytoplasm. Note=Found in lamellipodia of the leading edge, in the perinuclear region, and beneath the plasma membrane. The subcytoplasmic localization is cell specific and regulated by cell contact and growth. Localized at the connecting piece and the tail of the spermatozoa. Colocalized with CD44 mRNA in RNP granules. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O00425-1; Sequence=Displayed; Name=2; IsoId=O00425-2; Sequence=VSP_024172; Expressed in fetal liver, fetal lung, fetal kidney, fetal thymus, fetal placenta, fetal follicles of ovary and gonocytes of testis, growing oocytes, spermatogonia and semen (at protein level). Expressed in cervix adenocarcinoma, in testicular, pancreatic and renal-cell carcinomas (at protein level). Expressed ubiquitously during fetal development at 8 and 14 weeks of gestation. Expressed in ovary, testis, brain, placenta, pancreatic cancer tissues and pancreatic cancer cell lines. The third and fourth KH domains are important for binding to the untranslated region (UTR) of target mRNA. Autoantibodies against IGF2BP3 are detected in sera from some patients with a variety of carcinomas. Belongs to the RRM IMP/VICKZ family. Contains 4 KH domains. Contains 2 RRM (RNA recognition motif) domains. nucleic acid binding RNA binding mRNA 3'-UTR binding protein binding nucleus cytoplasm cytosol translation regulation of translation anatomical structure morphogenesis negative regulation of translation regulation of cytokine biosynthetic process regulation of mRNA stability translation regulator activity mRNA 5'-UTR binding mRNA transport uc003swg.1 uc003swg.2 uc003swg.3 uc003swg.4 uc003swg.5 
ENST00000258739.9 KDELR2 ENST00000258739.9 Homo sapiens KDEL endoplasmic reticulum protein retention receptor 2 (KDELR2), transcript variant 1, mRNA. (from RefSeq NM_006854) A4D2P4 ENST00000258739.1 ENST00000258739.2 ENST00000258739.3 ENST00000258739.4 ENST00000258739.5 ENST00000258739.6 ENST00000258739.7 ENST00000258739.8 ERD2.2 ERD22_HUMAN NM_006854 P33947 Q6IPC5 Q96E30 uc003sqe.1 uc003sqe.2 uc003sqe.3 uc003sqe.4 uc003sqe.5 uc003sqe.6 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. KDELR2 was the second member of the family to be identified, and it encodes a protein which is 83% identical to the KDELR1 gene product. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]. 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. Q13530:SERINC3; NbExp=1; IntAct=EBI-1056498, EBI-1045571; Endoplasmic reticulum membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P33947-1; Sequence=Displayed; Name=2; IsoId=P33947-2; Sequence=VSP_036712; 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 ER retention sequence binding uc003sqe.1 uc003sqe.2 uc003sqe.3 uc003sqe.4 uc003sqe.5 uc003sqe.6 
ENST00000258742.10 NUP42 ENST00000258742.10 Homo sapiens nucleoporin 42 (NUP42), transcript variant 2, mRNA. (from RefSeq NM_007342) A4D143 B4DP42 CG1 ENST00000258742.1 ENST00000258742.2 ENST00000258742.3 ENST00000258742.4 ENST00000258742.5 ENST00000258742.6 ENST00000258742.7 ENST00000258742.8 ENST00000258742.9 NM_007342 NUPL2 NUPL2_HUMAN O15504 Q49AE7 Q9BS49 uc003svu.1 uc003svu.2 uc003svu.3 uc003svu.4 uc003svu.5 Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. In case of infection by HIV-1, it may participate in the docking of viral Vpr at the nuclear envelope. Probable component of the nuclear pore complex (NPC). Interacts with nuclear export protein NXF1. Interacts with GLE1. Able to form a heterotrimer with NUP155 and GLE1 in vitro. Interacts with the HIV-1 virus proteins Rev and Vpr. The interaction with HIV-1 Rev, a protein that mediates nuclear export of unspliced viral RNAs, suggests that its function may be bypassed by the HIV-1 virus. Nucleus, nuclear pore complex. Nucleus membrane; Peripheral membrane protein; Cytoplasmic side. Note=Excluded from the nucleolus. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O15504-1; Sequence=Displayed; Name=2; IsoId=O15504-2; Sequence=VSP_016481, VSP_016482; Name=3; IsoId=O15504-3; Sequence=VSP_016480; Ubiquitously expressed. The FG repeats are interaction sites for karyopherins (importins, exportins) and form probably an affinity gradient, guiding the transport proteins unidirectionally with their cargo through the NPC (By similarity). O-glycosylated. Contains 1 C3H1-type zinc finger. RNA binding nuclear export signal receptor activity protein binding nucleus nuclear pore nucleoplasm cytosol regulation of glycolytic process mRNA export from nucleus tRNA export from nucleus protein export from nucleus protein transport membrane viral process protein sumoylation viral transcription nuclear membrane host cell metal ion binding mRNA transport regulation of gene silencing by miRNA intracellular transport of virus regulation of cellular response to heat nuclear envelope uc003svu.1 uc003svu.2 uc003svu.3 uc003svu.4 uc003svu.5 
ENST00000258772.10 DDX56 ENST00000258772.10 Homo sapiens DEAD-box helicase 56 (DDX56), transcript variant 1, mRNA. (from RefSeq NM_019082) A4D2K9 DDX21 DDX56_HUMAN ENST00000258772.1 ENST00000258772.2 ENST00000258772.3 ENST00000258772.4 ENST00000258772.5 ENST00000258772.6 ENST00000258772.7 ENST00000258772.8 ENST00000258772.9 NM_019082 NOH61 Q6IAE2 Q9H9I8 Q9NY93 uc003tlg.1 uc003tlg.2 uc003tlg.3 uc003tlg.4 uc003tlg.5 uc003tlg.6 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene shows ATPase activity in the presence of polynucleotides and associates with nucleoplasmic 65S preribosomal particles. This gene may be involved in ribosome synthesis, most likely during assembly of the large 60S ribosomal subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]. May play a role in later stages of the processing of the pre-ribosomal particles leading to mature 60S ribosomal subunits. Has intrinsic ATPase activity. ATP + H(2)O = ADP + phosphate. May form homooligomeric complexes. Nucleus, nucleolus. Detected in heart, brain, liver, pancreas, placenta and lung. Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the DEAD box helicase family. DDX56/DBP9 subfamily. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain. nucleotide binding nucleic acid binding RNA binding RNA helicase activity helicase activity ATP binding nucleus nucleolus rRNA processing positive regulation of neuron projection development membrane hydrolase activity ribosome biogenesis uc003tlg.1 uc003tlg.2 uc003tlg.3 uc003tlg.4 uc003tlg.5 uc003tlg.6 
ENST00000258774.10 HUS1 ENST00000258774.10 Homo sapiens HUS1 checkpoint clamp component (HUS1), transcript variant 2, non-coding RNA. (from RefSeq NR_037917) ENST00000258774.1 ENST00000258774.2 ENST00000258774.3 ENST00000258774.4 ENST00000258774.5 ENST00000258774.6 ENST00000258774.7 ENST00000258774.8 ENST00000258774.9 HUS1_HUMAN NR_037917 O60921 uc003tod.1 uc003tod.2 uc003tod.3 uc003tod.4 The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint proteins RAD9 and RAD1. In response to DNA damage, the trimeric complex interacts with another protein complex consisting of checkpoint protein RAD17 and four small subunits of the replication factor C (RFC), which loads the combined complex onto the chromatin. The DNA damage induced chromatin binding has been shown to depend on the activation of the checkpoint kinase ATM, and is thought to be an early checkpoint signaling event. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]. Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair. The 9-1-1 complex is recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader complex. Acts then as a sliding clamp platform on DNA for several proteins involved in long-patch base excision repair (LP-BER). The 9-1-1 complex stimulates DNA polymerase beta (POLB) activity by increasing its affinity for the 3'-OH end of the primer-template and stabilizes POLB to those sites where LP-BER proceeds; endonuclease FEN1 cleavage activity on substrates with double, nick, or gap flaps of distinct sequences and lengths; and DNA ligase I (LIG1) on long-patch base excision repair substrates. The 9-1-1 complex is necessary for the recruitment of RHNO1 to sites of double-stranded breaks (DSB) occurring during the S phase. Component of the toroidal 9-1-1 (RAD9-RAD1-HUS1) complex, composed of RAD9A, RAD1 and HUS1. The 9-1-1 complex associates with LIG1, POLB, FEN1, RAD17, HDAC1, RPA1 and RPA2. The 9-1-1 complex associates with the RAD17-RFC complex. HUS1 interacts with POLB, HDAC1, FEN1, PCNA, RAD1, RAD9A and RAD9B. HUS1 does not interact with RAD17. Interacts with DNAJC7. O60671:RAD1; NbExp=4; IntAct=EBI-1056174, EBI-721835; Q99638:RAD9A; NbExp=5; IntAct=EBI-1056174, EBI-2606224; Nucleus. Cytoplasm. Note=In discrete nuclear foci upon DNA damage. According to PubMed:14500360, localized also in the cytoplasm. DNA damage induces its nuclear translocation. Shuttles between the nucleus and the cytoplasm. Ubiquitous. Belongs to the HUS1 family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/hus1/"; DNA damage checkpoint telomere maintenance double-strand break repair via homologous recombination regulation of protein phosphorylation protein binding nucleus nucleoplasm nucleolus cytoplasm cytosol DNA replication DNA repair nucleotide-excision repair protein phosphorylation cellular response to DNA damage stimulus mitotic cell cycle checkpoint negative regulation of DNA replication response to UV embryo development ending in birth or egg hatching checkpoint clamp complex intra-S DNA damage checkpoint mitotic DNA replication checkpoint site of double-strand break meiotic DNA integrity checkpoint cellular response to ionizing radiation regulation of signal transduction by p53 class mediator uc003tod.1 uc003tod.2 uc003tod.3 uc003tod.4 
ENST00000258781.11 CCM2 ENST00000258781.11 Homo sapiens CCM2 scaffold protein (CCM2), transcript variant 2, mRNA. (from RefSeq NM_031443) A4D2L4 C7orf22 CCM2_HUMAN D3DVL4 ENST00000258781.1 ENST00000258781.10 ENST00000258781.2 ENST00000258781.3 ENST00000258781.4 ENST00000258781.5 ENST00000258781.6 ENST00000258781.7 ENST00000258781.8 ENST00000258781.9 NM_031443 PP10187 Q71RE5 Q8TAT4 Q9BSQ5 uc003tmo.1 uc003tmo.2 uc003tmo.3 uc003tmo.4 uc003tmo.5 This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as SMURF1) via a phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal cytoskeletal structure, cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene result in cerebral cavernous malformations. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]. Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity. May act through the stabilization of endothelial cell junctions (By similarity). May function as a scaffold protein for MAP2K3-MAP3K3 signaling. Seems to play a major role in the modulation of MAP3K3- dependent p38 activation induced by hyperosmotic shock (By similarity). Part of a complex with MAP2K3, MAP3K3 and RAC1. Binds RAC1 directly and independently of its nucleotide-bound state (By similarity). Interacts with PDCD10. Interacts with HEG1 and KRIT1; KRIT1 greatly facilitates the interaction with HEG1 (By similarity). O00522:KRIT1; NbExp=3; IntAct=EBI-1573056, EBI-1573121; Q9BUL8:PDCD10; NbExp=4; IntAct=EBI-1573056, EBI-740195; Cytoplasm (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BSQ5-1; Sequence=Displayed; Name=2; IsoId=Q9BSQ5-2; Sequence=VSP_024402; Defects in CCM2 are the cause of cerebral cavernous malformations type 2 (CCM2) [MIM:603284]. Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. CCMs have an incidence of 0.1%-0.5% in the general population and are usually present clinically during the 3rd to 5th decades of life. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. Contains 1 PID domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CCM2"; blood vessel development vasculogenesis in utero embryonic development endothelial cell development vasculature development protein binding cytoplasm mitochondrion integrin-mediated signaling pathway multicellular organism development heart development macromolecular complex multicellular organism growth cell-cell junction organization inner ear development venous blood vessel morphogenesis stress-activated MAPK cascade pericardium development blood vessel endothelial cell differentiation endothelial tube morphogenesis uc003tmo.1 uc003tmo.2 uc003tmo.3 uc003tmo.4 uc003tmo.5 
ENST00000258787.12 MYO1G ENST00000258787.12 Homo sapiens myosin IG (MYO1G), mRNA. (from RefSeq NM_033054) B0I1T2 ENST00000258787.1 ENST00000258787.10 ENST00000258787.11 ENST00000258787.2 ENST00000258787.3 ENST00000258787.4 ENST00000258787.5 ENST00000258787.6 ENST00000258787.7 ENST00000258787.8 ENST00000258787.9 HA2 MYO1G_HUMAN NM_033054 Q8TEI9 Q8TES2 Q96BE2 Q96RI5 Q96RI6 uc003tmh.1 uc003tmh.2 uc003tmh.3 uc003tmh.4 MYO1G is a plasma membrane-associated class I myosin (see MIM 601478) that is abundant in T and B lymphocytes and mast cells (Pierce et al., 2001 [PubMed 11544309]; Patino-Lopez et al., 2010 [PubMed 20071333]).[supplied by OMIM, Jun 2010]. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.477452.1, AB290179.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000258787.12/ ENSP00000258787.7 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments (By similarity). Precursor of the minor histocompatibility antigen HA-2. More generally, minor histocompatibility antigens (mHags) refer to immunogenic peptide which, when complexed with MHC, can generate an immune response after recognition by specific T-cells. The peptides are derived from polymorphic intracellular proteins, which are cleaved by normal pathways of antigen processing. The binding of these peptides to MHC class I or class II molecules and their expression on the cell surface can stimulate T-cell responses and thereby trigger graft rejection or graft-versus-host disease (GVHD) after hematopoietic stem cell transplantation from HLA-identical sibling donor. GVHD is a frequent complication after bone marrow transplantation (BMT), due to mismatch of minor histocompatibility antigen in HLA-matched sibling marrow transplants. HA-2 is restricted to MHC class I HLA-A*0201. Binds calmodulin through its IQ motifs (By similarity). Cell membrane; Peripheral membrane protein. Note=Localization at the membrane is not highly dependent on phosphatidylinositol 4,5-bisphosphate levels. Released from the membrane in the presence of ATP. May be enriched in peripheral processes, such as microvilli or ruffles. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=B0I1T2-1; Sequence=Displayed; Name=2; IsoId=B0I1T2-2; Sequence=VSP_034208, VSP_034209; Note=No experimental confirmation available; Name=3; IsoId=B0I1T2-3; Sequence=VSP_034210; Note=No experimental confirmation available; Name=4; IsoId=B0I1T2-4; Sequence=VSP_034211, VSP_034212; Note=No experimental confirmation available; Specifically expressed in hematopoietic cells. Contains 1 IQ domain. Contains 1 myosin head-like domain. Represents a unconventional myosin. This protein should not be confused with the conventional myosin-1 (MYH1). Sequence=BAB84876.1; Type=Erroneous translation; Note=Wrong choice of CDS; nucleotide binding phagocytic cup adaptive immune response immune system process T cell mediated immunity motor activity actin binding calmodulin binding ATP binding phosphatidylinositol-4,5-bisphosphate binding phosphatidylinositol-3,4,5-trisphosphate binding plasma membrane microvillus exocytosis phagocytosis lipid binding membrane myosin complex lamellipodium filopodium leading edge membrane cell-substrate adhesion Fc-gamma receptor signaling pathway involved in phagocytosis cell projection phosphatidylinositol-3,4-bisphosphate binding extracellular exosome cell gliding T cell migration uc003tmh.1 uc003tmh.2 uc003tmh.3 uc003tmh.4 
ENST00000258796.12 TTYH3 ENST00000258796.12 Homo sapiens tweety family member 3 (TTYH3), mRNA. (from RefSeq NM_025250) A4D201 B7WP98 ENST00000258796.1 ENST00000258796.10 ENST00000258796.11 ENST00000258796.2 ENST00000258796.3 ENST00000258796.4 ENST00000258796.5 ENST00000258796.6 ENST00000258796.7 ENST00000258796.8 ENST00000258796.9 KIAA1691 NM_025250 Q6L749 Q6ZVG3 Q8TEG6 Q9C0H2 TTYH3_HUMAN uc003smp.1 uc003smp.2 uc003smp.3 uc003smp.4 uc003smp.5 This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BC152447.1, AB051478.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000258796.12/ ENSP00000258796.7 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Probable large-conductance Ca(2+)-activated chloride channel. May play a role in Ca(2+) signal transduction. Cell membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9C0H2-1; Sequence=Displayed; Name=2; IsoId=Q9C0H2-2; Sequence=VSP_029770; Note=No experimental confirmation available; Name=3; IsoId=Q9C0H2-3; Sequence=VSP_029769; Note=No experimental confirmation available; Name=4; IsoId=Q9C0H2-4; Sequence=VSP_042220; Note=No experimental confirmation available; Expressed in excitable tissues. Expressed in the brain, heart, skeletal muscle, colon, spleen, kidney and peripheral blood leukocytes. N-glycosylated. The current is completely inhibited by the addition of an anion permeability inhibitor. Addition of a Ca(2+) ionophore induces an outward-rectified current in mock-transfected cells, but it introduced an overt linear current in TTYH3-transfected cells. Belongs to the tweety family. Sequence=BAB21782.2; Type=Erroneous initiation; Sequence=EAL23958.1; Type=Erroneous gene model prediction; intracellular calcium activated chloride channel activity chloride channel activity plasma membrane ion transport chloride transport membrane integral component of membrane ion transmembrane transport chloride channel complex extracellular exosome volume-sensitive chloride channel activity chloride transmembrane transport uc003smp.1 uc003smp.2 uc003smp.3 uc003smp.4 uc003smp.5 
ENST00000258807.5 CIDEB ENST00000258807.5 Homo sapiens cell death inducing DFFA like effector b (CIDEB), transcript variant 2, mRNA. (from RefSeq NM_014430) CIDEB_HUMAN D3DS73 ENST00000258807.1 ENST00000258807.2 ENST00000258807.3 ENST00000258807.4 NM_014430 Q546V8 Q9NNW9 Q9UHD4 uc001woo.1 uc001woo.2 uc001woo.3 uc001woo.4 Activates apoptosis. Inhibited by DFFB. Interacts with DFFA and DFFB. Highly expressed in liver and small intestine and, at lower levels, in colon, kidney and spleen. Contains 1 CIDE-N domain. protein binding lipid particle cytosol apoptotic process intrinsic apoptotic signaling pathway in response to DNA damage positive regulation of cell death identical protein binding perinuclear region of cytoplasm positive regulation of release of cytochrome c from mitochondria execution phase of apoptosis activation of cysteine-type endopeptidase activity uc001woo.1 uc001woo.2 uc001woo.3 uc001woo.4 
ENST00000258821.8 TTC5 ENST00000258821.8 Homo sapiens tetratricopeptide repeat domain 5 (TTC5), mRNA. (from RefSeq NM_138376) A8MQ18 ENST00000258821.1 ENST00000258821.2 ENST00000258821.3 ENST00000258821.4 ENST00000258821.5 ENST00000258821.6 ENST00000258821.7 NM_138376 Q8N0Z6 Q96HF9 TTC5_HUMAN uc001vwt.1 uc001vwt.2 uc001vwt.3 uc001vwt.4 uc001vwt.5 uc001vwt.6 Adapter protein involved in p53/TP53 response that acts by regulating and mediating the assembly of multi-protein complexes. Required to facilitate the interaction between JMY and p300/EP300 and increase p53/TP53-dependent transcription and apoptosis. Prevents p53/TP53 degradation by MDM2 (By similarity). Interacts with JMY and p300/EP300 (By similarity). Nucleus. Cytoplasm. Note=Phosphorylation at Ser-203 results in nuclear localization, while unphosphorylated protein localizes to the cytoplasm (By similarity). Phosphorylation at Ser-203 enhances protein stability, regulates nuclear accumulation and association with p300/EP300 (By similarity). Contains 6 TPR repeats. DNA binding chromatin binding protein binding nucleus nucleoplasm cytoplasm DNA repair cellular response to DNA damage stimulus positive regulation of transcription from RNA polymerase II promoter regulation of signal transduction by p53 class mediator uc001vwt.1 uc001vwt.2 uc001vwt.3 uc001vwt.4 uc001vwt.5 uc001vwt.6 
ENST00000258829.6 NKX2-8 ENST00000258829.6 Homo sapiens NK2 homeobox 8 (NKX2-8), mRNA. (from RefSeq NM_014360) ENST00000258829.1 ENST00000258829.2 ENST00000258829.3 ENST00000258829.4 ENST00000258829.5 NKX-2.8 NKX28_HUMAN NKX2G NKX2H NM_014360 O15522 Q8IUT7 uc001wtx.1 uc001wtx.2 uc001wtx.3 uc001wtx.4 uc001wtx.5 The protein encoded by this gene is a homeobox-containing developmental regulator associated with liver development. The encoded protein binds to the alpha-fetoprotein (AFP) gene promoter and increases the expression of AFP. This gene is overexpressed in some lung cancers and is linked to poor patient survival, possibly due to its resistance to cisplatin. This gene is aberrantly methylated in pancreatic cancer, deleted in squamous cell lung carcinomas, and acts as a tumor suppressor in esophageal cancer. Mutations in this gene may also be a cause of neural tube defects. [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 :: BC041090.1, AF000295.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2145893 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000258829.6/ ENSP00000258829.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Nucleus (Probable). Belongs to the NK-2 homeobox family. Contains 1 homeobox 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 liver development DNA binding double-stranded DNA binding transcription factor activity, sequence-specific DNA binding cellular_component nucleus transcription, DNA-templated regulation of transcription, DNA-templated transcription from RNA polymerase II promoter multicellular organism development axonogenesis cell differentiation respiratory tube development lung development sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter negative regulation of epithelial cell proliferation uc001wtx.1 uc001wtx.2 uc001wtx.3 uc001wtx.4 uc001wtx.5 
ENST00000258873.9 ACSBG1 ENST00000258873.9 Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA. (from RefSeq NM_015162) ACBG1_HUMAN B2RB61 BGM ENST00000258873.1 ENST00000258873.2 ENST00000258873.3 ENST00000258873.4 ENST00000258873.5 ENST00000258873.6 ENST00000258873.7 ENST00000258873.8 KIAA0631 LPD NM_015162 O75126 Q76N27 Q96GR2 Q9HC26 uc002bdh.1 uc002bdh.2 uc002bdh.3 uc002bdh.4 uc002bdh.5 The protein encoded by this gene possesses long-chain acyl-CoA synthetase activity. It is thought to play a central role in brain very long-chain fatty acids metabolism and myelinogenesis. [provided by RefSeq, Jul 2008]. Mediates activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Able to activate long-chain fatty acids. Also able to activate very long-chain fatty acids; however, the relevance of such activity is unclear in vivo. Can activate diverse saturated, monosaturated and polyunsaturated fatty acids. ATP + a long-chain fatty acid + CoA = AMP + diphosphate + an acyl-CoA. Cytoplasm. Cytoplasmic vesicle (By similarity). Microsome (By similarity). Endoplasmic reticulum (By similarity). Expressed primarily in brain. Expressed at lower level in testis and adrenal gland. Present in all regions of brain except pituitary. Belongs to the ATP-dependent AMP-binding enzyme family. Bubblegum subfamily. Sequence=BAA31606.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; very long-chain fatty acid metabolic process nucleotide binding long-chain fatty acid metabolic process catalytic activity acyl-CoA ligase activity long-chain fatty acid-CoA ligase activity ATP binding cytoplasm endoplasmic reticulum cytosol plasma membrane lipid metabolic process fatty acid metabolic process membrane ligase activity cytoplasmic vesicle very long-chain fatty acid-CoA ligase activity long-chain fatty-acyl-CoA biosynthetic process myelination intracellular membrane-bounded organelle response to glucocorticoid decanoate--CoA ligase activity uc002bdh.1 uc002bdh.2 uc002bdh.3 uc002bdh.4 uc002bdh.5 
ENST00000258874.4 MTHFS ENST00000258874.4 Homo sapiens methenyltetrahydrofolate synthetase (MTHFS), transcript variant 3, non-coding RNA. (from RefSeq NR_037654) ENST00000258874.1 ENST00000258874.2 ENST00000258874.3 MTHFS_HUMAN NR_037654 P49914 uc002bex.1 uc002bex.2 uc002bex.3 uc002bex.4 uc002bex.5 uc002bex.6 The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]. Contributes to tetrahydrofolate metabolism. Helps regulate carbon flow through the folate-dependent one-carbon metabolic network that supplies carbon for the biosynthesis of purines, thymidine and amino acids. ATP + 5-formyltetrahydrofolate = ADP + phosphate + 5,10-methenyltetrahydrofolate. Magnesium. Monomer. Cytoplasm. Belongs to the 5-formyltetrahydrofolate cyclo-ligase family. nucleotide binding ATP binding folic acid binding cytoplasm mitochondrion mitochondrial matrix cytosol glutamate metabolic process folic acid-containing compound biosynthetic process formate metabolic process ligase activity 5-formyltetrahydrofolate cyclo-ligase activity tetrahydrofolate interconversion tetrahydrofolate metabolic process folic acid metabolic process folic acid catabolic process metal ion binding uc002bex.1 uc002bex.2 uc002bex.3 uc002bex.4 uc002bex.5 uc002bex.6 
ENST00000258884.5 ABHD17C ENST00000258884.5 Homo sapiens abhydrolase domain containing 17C, depalmitoylase (ABHD17C), mRNA. (from RefSeq NM_021214) ENST00000258884.1 ENST00000258884.2 ENST00000258884.3 ENST00000258884.4 F108C_HUMAN FAM108C1 NM_021214 Q1RMD6 Q6PCB6 Q9NPM1 uc002bfu.1 uc002bfu.2 uc002bfu.3 uc002bfu.4 uc002bfu.5 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6PCB6-1; Sequence=Displayed; Name=2; IsoId=Q6PCB6-2; Sequence=VSP_027273; Belongs to the AB hydrolase superfamily. FAM108 family. protein depalmitoylation endosome plasma membrane palmitoyl-(protein) hydrolase activity postsynaptic density membrane hydrolase activity protein palmitoylation cell junction cell projection dendritic spine synapse postsynaptic membrane recycling endosome membrane glutamatergic synapse negative regulation of protein localization to microtubule positive regulation of protein localization to endosome uc002bfu.1 uc002bfu.2 uc002bfu.3 uc002bfu.4 uc002bfu.5 
ENST00000258886.13 IREB2 ENST00000258886.13 Homo sapiens iron responsive element binding protein 2 (IREB2), transcript variant 1, mRNA. (from RefSeq NM_004136) A8KAC7 ENST00000258886.1 ENST00000258886.10 ENST00000258886.11 ENST00000258886.12 ENST00000258886.2 ENST00000258886.3 ENST00000258886.4 ENST00000258886.5 ENST00000258886.6 ENST00000258886.7 ENST00000258886.8 ENST00000258886.9 IREB2_HUMAN NM_004136 P48200 Q13095 Q1HE21 Q59FQ7 Q9UF17 uc002bdr.1 uc002bdr.2 uc002bdr.3 uc002bdr.4 The protein encoded by this gene is an RNA-binding protein that acts to regulate iron levels in the cells by regulating the translation and stability of mRNAs that affect iron homeostasis under conditions when iron is depleted. When iron levels are low, this protein binds to iron-responsive elements (IRES), stem-loop structures located either in the 5' or 3' UTRs. Binding to the 5' UTR represses translation, while binding to the 3' UTR inhibits mRNA degradation. When iron is found in the cell, this protein is degraded in a F-box and leucine rich repeat protein 5-dependent manner. Variants in this gene have been associated with lung cancer and chronic obstructive pulmonary disease (COPD). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]. 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 :: SRR1803612.94406.1, SRR1803617.39535.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000258886.13/ ENSP00000258886.8 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## RNA-binding protein that binds to iron-responsive elements (IRES), which are stem-loop structures found in the 5'- UTR of ferritin, and delta aminolevulinic acid synthase mRNAs, and in the 3'-UTR of transferrin receptor mRNA. Binding to the IRE element in ferritin results in the repression of its mRNA translation. Binding of the protein to the transferrin receptor mRNA inhibits the degradation of this otherwise rapidly degraded mRNA. Binds 1 4Fe-4S cluster per subunit (By similarity). 4Fe- 4S-binding affects RNA-binding activity, thereby inhibiting activity of the protein (By similarity). Interacts with RBCK1 isoform 1 and isoform 2 only in iron-rich conditions. Interacts (when associated with the 4Fe-4S) with FBXL5. Cytoplasm. Ubiquitinated and degraded by the proteasome in presence of high level of iron and oxygen. Ubiquitinated by a SCF complex containing FBXL5. Upon iron and oxygen depletion FBXL5 is degraded, preventing ubiquitination and allowing its RNA-binding activity. Belongs to the aconitase/IPM isomerase family. Sequence=AAA79926.1; Type=Frameshift; Positions=605, 611; Sequence=BAD92640.1; Type=Frameshift; Positions=727; RNA binding aconitate hydratase activity protein binding cytoplasm mitochondrion cytosol tricarboxylic acid cycle citrate metabolic process regulation of translation protoporphyrinogen IX biosynthetic process iron ion transport cellular iron ion homeostasis post-embryonic development regulation of gene expression negative regulation of translation osteoclast differentiation iron-responsive element binding translation repressor activity erythrocyte homeostasis metal ion binding intestinal absorption iron-sulfur cluster binding 4 iron, 4 sulfur cluster binding iron ion homeostasis uc002bdr.1 uc002bdr.2 uc002bdr.3 uc002bdr.4 
ENST00000258888.6 ALPK3 ENST00000258888.6 Homo sapiens alpha kinase 3 (ALPK3), mRNA. (from RefSeq NM_020778) ALPK3_HUMAN ENST00000258888.1 ENST00000258888.2 ENST00000258888.3 ENST00000258888.4 ENST00000258888.5 KIAA1330 MAK NM_020778 Q96L96 Q9P2L6 uc002ble.1 uc002ble.2 uc002ble.3 uc002ble.4 Kinase that recognizes phosphorylation sites in which the surrounding peptides have an alpha-helical conformation. Plays a role in cardiomyocyte differentiation (By similarity). Nucleus (By similarity). Belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily. Contains 1 alpha-type protein kinase domain. Contains 1 Ig-like (immunoglobulin-like) domain. protein serine/threonine kinase activity ATP binding nucleus protein phosphorylation multicellular organism development heart development kinase activity phosphorylation transferase activity cardiac muscle cell development uc002ble.1 uc002ble.2 uc002ble.3 uc002ble.4 
ENST00000258930.8 CIB2 ENST00000258930.8 Homo sapiens calcium and integrin binding family member 2 (CIB2), transcript variant 5, non-coding RNA. (from RefSeq NR_125435) CIB2_HUMAN ENST00000258930.1 ENST00000258930.2 ENST00000258930.3 ENST00000258930.4 ENST00000258930.5 ENST00000258930.6 ENST00000258930.7 KIP2 NR_125435 O75838 uc002bdb.1 uc002bdb.2 uc002bdb.3 uc002bdb.4 The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. Ubiquitous. Contains 3 EF-hand domains. magnesium ion binding photoreceptor outer segment photoreceptor inner segment integrin binding calcium ion binding protein binding cytoplasm plasma membrane muscle tendon junction cilium positive regulation of cytosolic calcium ion concentration membrane neuromuscular junction stereocilium cuticular plate sarcolemma protein homodimerization activity cell projection macromolecular complex binding photoreceptor cell maintenance metal ion binding calcium ion homeostasis cellular response to ATP blood microparticle uc002bdb.1 uc002bdb.2 uc002bdb.3 uc002bdb.4 
ENST00000258947.8 CALCOCO2 ENST00000258947.8 Homo sapiens calcium binding and coiled-coil domain 2 (CALCOCO2), transcript variant 3, mRNA. (from RefSeq NM_005831) B2RBT0 CACO2_HUMAN ENST00000258947.1 ENST00000258947.2 ENST00000258947.3 ENST00000258947.4 ENST00000258947.5 ENST00000258947.6 ENST00000258947.7 NDP52 NM_005831 Q13137 Q53FQ5 Q53HB5 Q6IBN9 Q9BTF7 uc002iof.1 uc002iof.2 uc002iof.3 uc002iof.4 uc002iof.5 This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a receptor for ubiquitin-coated bacteria and plays an important role in innate immunity by mediating macroautophagy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]. May play a role in ruffle formation and actin cytoskeleton organization. Seems to negatively regulate constitutive secretion (By similarity). Part of a complex consisting of CALCOCO2, TAX1BP1 and MYO6. Interacts with GEMIN4. Q7Z434:MAVS; NbExp=3; IntAct=EBI-739580, EBI-995373; Q9NVV4:MTPAP; NbExp=2; IntAct=EBI-739580, EBI-2556166; Q9UHD2:TBK1; NbExp=5; IntAct=EBI-739580, EBI-356402; Cytoplasm, perinuclear region. Golgi apparatus. Cytoplasm, cytoskeleton. Note=According to PubMed:7540613, localizes to nuclear dots. According to PubMed:9230084 and PubMed:12869526, it is not a nuclear dot- associated protein but localizes predominantly in the cytoplasm with a coarse-grained distribution preferentially close to the nucleus. Expressed in all tissues tested with highest expression in skeletal muscle and lowest in brain. According to PubMed:7540613, HSV-1 infection removes CALCOCO2 from the nucleus, however, it remains faintly in areas shown to be domains, containing splicing components. Treatment with IFNB1/IFN-beta and IFNG/IFN-gamma show an increase in number and size of CALCOCO2-specific dots and partial redistribution to the cytoplasm. According to PubMed:9230084, IFNG/IFN-gamma increases gene expression only slightly and IFNB does not increase expression. autophagosome membrane protein binding nucleus cytoplasm autophagosome cytosol cytoskeleton autophagy membrane viral process cytoplasmic vesicle response to interferon-gamma protein homodimerization activity intracellular membrane-bounded organelle perinuclear region of cytoplasm xenophagy positive regulation of autophagosome maturation uc002iof.1 uc002iof.2 uc002iof.3 uc002iof.4 uc002iof.5 
ENST00000258955.7 RSAD1 ENST00000258955.7 Homo sapiens radical S-adenosyl methionine domain containing 1 (RSAD1), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_018346) ENST00000258955.1 ENST00000258955.2 ENST00000258955.3 ENST00000258955.4 ENST00000258955.5 ENST00000258955.6 NM_018346 Q53HV8 Q86VC4 Q9BRY7 Q9HA92 Q9NUS7 RSAD1_HUMAN uc002iqw.1 uc002iqw.2 uc002iqw.3 May be involved in porphyrin cofactor biosynthesis (By similarity). Binds 1 4Fe-4S cluster. The cluster is coordinated with 3 cysteines and an exchangeable S-adenosyl-L-methionine (Potential). Mitochondrion (Potential). Belongs to the anaerobic coproporphyrinogen-III oxidase family. catalytic activity coproporphyrinogen oxidase activity cytoplasm mitochondrion porphyrin-containing compound biosynthetic process metal ion binding iron-sulfur cluster binding 4 iron, 4 sulfur cluster binding oxidation-reduction process uc002iqw.1 uc002iqw.2 uc002iqw.3 
ENST00000258962.5 SRSF1 ENST00000258962.5 Homo sapiens serine and arginine rich splicing factor 1 (SRSF1), transcript variant 3, non-coding RNA. (from RefSeq NR_034041) ASF B2R6Z7 D3DTZ3 ENST00000258962.1 ENST00000258962.2 ENST00000258962.3 ENST00000258962.4 NR_034041 OK/SW-cl.3 Q07955 Q13809 SF2 SF2P33 SFRS1 SRSF1_HUMAN uc002ivi.1 uc002ivi.2 uc002ivi.3 uc002ivi.4 uc002ivi.5 This gene encodes a member of the arginine/serine-rich splicing factor protein family. The encoded protein can either activate or repress splicing, depending on its phosphorylation state and its interaction partners. Multiple transcript variants have been found for this gene. There is a pseudogene of this gene on chromosome 13. [provided by RefSeq, Jun 2014]. Plays a role in preventing exon skipping, ensuring the accuracy of splicing and regulating alternative splicing. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5'- and 3'-splice site binding components, U1 snRNP and U2AF. Can stimulate binding of U1 snRNP to a 5'-splice site-containing pre-mRNA. Binds to purine-rich RNA sequences, either the octamer, 5'-RGAAGAAC-3' (r=A or G) or the decamers, AGGACAGAGC/AGGACGAAGC. Binds preferentially to the 5'- CGAGGCG-3' motif in vitro. Three copies of the octamer constitute a powerful splicing enhancer in vitro, the ASF/SF2 splicing enhancer (ASE) which can specifically activate ASE-dependent splicing. Isoform ASF-2 and isoform ASF-3 act as splicing repressors. Consists of two polypeptides of p32 and p33. In vitro, self-associates and binds SRSF2, SNRNP70 and U2AF1 but not U2AF2. Binds SREK1/SFRS12. Interacts with SAFB/SAFB1. Interacts with PSIP1/LEDGF. Interacts with SRPK1. Identified in the spliceosome C complex. Interacts with RSRC1 (via Arg/Ser-rich domain). Interacts with ZRSR2/U2AF1-RS2. Interacts with CCDC55 (via C-terminus). Interacts with SRPK1 and a sliding docking interaction is essential for its sequential and processive phosphorylation by SRPK1. Q86X95:CIR1; NbExp=3; IntAct=EBI-398920, EBI-627102; P23511:NFYA; NbExp=5; IntAct=EBI-398920, EBI-389739; Q9UBU9:NXF1; NbExp=5; IntAct=EBI-398920, EBI-398874; Q96SB4:SRPK1; NbExp=2; IntAct=EBI-398920, EBI-539478; O70551:Srpk1 (xeno); NbExp=5; IntAct=EBI-398920, EBI-593343; O54781:Srpk2 (xeno); NbExp=3; IntAct=EBI-398920, EBI-593325; Cytoplasm. Nucleus speckle. Note=In nuclear speckles. Shuttles between the nucleus and the cytoplasm. Event=Alternative splicing; Named isoforms=3; Name=ASF-1; IsoId=Q07955-1; Sequence=Displayed; Name=ASF-2; IsoId=Q07955-2; Sequence=VSP_005856; Name=ASF-3; IsoId=Q07955-3; Sequence=VSP_005857, VSP_005858; Note=May be due to intron retention; The RRM 2 domain plays an important role in governing both the binding mode and the phosphorylation mechanism of the RS domain by SRPK1. RS domain and RRM 2 are uniquely positioned to initiate a highly directional (C-terminus to N-terminus) phosphorylation reaction in which the RS domain slides through an extended electronegative channel separating the docking groove of SRPK1 and the active site. RRM 2 binds toward the periphery of the active site and guides the directional phosphorylation mechanism. Both the RS domain and an RRM domain are required for nucleocytoplasmic shuttling. Phosphorylated by CLK1, CLK2, CLK3 and CLK4. Phosphorylated by SRPK1 at multiple serines in its RS domain via a directional (C-terminal to N-terminal) and a dual-track mechanism incorporating both processive phosphorylation (in which the kinase stays attached to the substrate after each round of phosphorylation) and distributive phosphorylation steps (in which the kinase and substrate dissociate after each phosphorylation event). The RS domain of SRSF1 binds to a docking groove in the large lobe of the kinase domain of SRPK1 and this induces certain structural changes in SRPK1 and/or RRM 2 domain of SRSF1, allowing RRM 2 to bind the kinase and initiate phosphorylation. The cycles continue for several phosphorylation steps in a processive manner (steps 1-8) until the last few phosphorylation steps (approximately steps 9-12). During that time, a mechanical stress induces the unfolding of the beta-4 motif in RRM 2, which then docks at the docking groove of SRPK1. This also signals RRM 2 to begin to dissociate, which facilitates SRSF1 dissociation after phosphorylation is completed. Arg-97 is dimethylated, probably to asymmetric dimethylarginine. Belongs to the splicing factor SR family. Contains 2 RRM (RNA recognition motif) domains. alternative mRNA splicing, via spliceosome regulation of alternative mRNA splicing, via spliceosome mRNA 5'-splice site recognition mRNA splicing, via spliceosome nucleic acid binding RNA binding mRNA binding protein binding nucleus nucleoplasm spliceosomal complex cytoplasm mRNA splice site selection mRNA processing RNA export from nucleus mRNA export from nucleus RNA splicing nuclear speck mRNA 3'-end processing DNA topoisomerase binding mRNA cis splicing, via spliceosome mRNA transport catalytic step 2 spliceosome exon-exon junction complex uc002ivi.1 uc002ivi.2 uc002ivi.3 uc002ivi.4 uc002ivi.5 
ENST00000258969.4 CHAD ENST00000258969.4 Promotes attachment of chondrocytes, fibroblasts, and osteoblasts. This binding is mediated (at least for chondrocytes and fibroblasts) by the integrin alpha(2)beta(1). May play an important role in the regulation of chondrocyte growth and proliferation (By similarity). (from UniProt O15335) A8K812 AK292177 CHAD_HUMAN ENST00000258969.1 ENST00000258969.2 ENST00000258969.3 O15335 Q6GTU0 Q96RJ5 SLRR4A uc010dbs.1 uc010dbs.2 uc010dbs.3 uc010dbs.4 Promotes attachment of chondrocytes, fibroblasts, and osteoblasts. This binding is mediated (at least for chondrocytes and fibroblasts) by the integrin alpha(2)beta(1). May play an important role in the regulation of chondrocyte growth and proliferation (By similarity). Mostly monomeric (By similarity). Interacts with collagen type II. Secreted, extracellular space, extracellular matrix (By similarity). Present in chondrocytes at all ages. Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class IV subfamily. Contains 9 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. Contains 1 LRRNT domain. extracellular region extracellular space extracellular matrix bone development negative regulation of bone trabecula formation uc010dbs.1 uc010dbs.2 uc010dbs.3 uc010dbs.4 
ENST00000258975.7 TACO1 ENST00000258975.7 Homo sapiens translational activator of cytochrome c oxidase I (TACO1), mRNA. (from RefSeq NM_016360) B2RD21 CCDC44 ENST00000258975.1 ENST00000258975.2 ENST00000258975.3 ENST00000258975.4 ENST00000258975.5 ENST00000258975.6 NM_016360 PRO0477 Q8N3N6 Q9BSH4 Q9UI60 TACO1_HUMAN uc002jbd.1 uc002jbd.2 uc002jbd.3 uc002jbd.4 This gene encodes a mitochondrial protein that function as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. Mutations in this gene are associated with Leigh syndrome.[provided by RefSeq, Mar 2010]. ##Evidence-Data-START## Transcript exon combination :: BC005049.1, SRR3476690.844518.1 [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 :: ENST00000258975.7/ ENSP00000258975.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Acts as a translational activator of mitochondrially- encoded cytochrome c oxidase 1. Mitochondrion. Defects in TACO1 are a cause of Leigh syndrome (LS) [MIM:256000]. LS is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions that is commonly associated with systemic cytochrome c oxidase (COX) deficiency. Belongs to the TACO1 family. protein binding nucleus mitochondrion regulation of translation uc002jbd.1 uc002jbd.2 uc002jbd.3 uc002jbd.4 
ENST00000259006.8 LIMD2 ENST00000259006.8 Homo sapiens LIM domain containing 2 (LIMD2), mRNA. (from RefSeq NM_030576) D3DU16 ENST00000259006.1 ENST00000259006.2 ENST00000259006.3 ENST00000259006.4 ENST00000259006.5 ENST00000259006.6 ENST00000259006.7 LIMD2_HUMAN NM_030576 Q96S91 Q9BT23 SB143 uc002jbj.1 uc002jbj.2 uc002jbj.3 uc002jbj.4 uc002jbj.5 uc002jbj.6 Contains 1 LIM zinc-binding domain. protein binding nucleus cytoplasm metal ion binding uc002jbj.1 uc002jbj.2 uc002jbj.3 uc002jbj.4 uc002jbj.5 uc002jbj.6 
ENST00000259008.7 BRIP1 ENST00000259008.7 Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA. (from RefSeq NM_032043) BACH1 ENST00000259008.1 ENST00000259008.2 ENST00000259008.3 ENST00000259008.4 ENST00000259008.5 ENST00000259008.6 FANCJ FANCJ_HUMAN NM_032043 Q3MJE2 Q8NCI5 Q9BX63 uc002izk.1 uc002izk.2 uc002izk.3 uc002izk.4 The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [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 :: AF360549.1, BC101472.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000259008.7/ ENSP00000259008.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1. ATP + H(2)O = ADP + phosphate. Binds 1 4Fe-4S cluster. Binds directly to the BRCT domains of BRCA1. P38398:BRCA1; NbExp=3; IntAct=EBI-3509650, EBI-349905; Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BX63-1; Sequence=Displayed; Name=2; IsoId=Q9BX63-2; Sequence=VSP_012540, VSP_012541; Note=No experimental confirmation available; Ubiquitously expressed, with highest levels in testis. 4Fe-4S iron-sulfur-binding is required for helicase activity (PubMed:20639400). Phosphorylated. Phosphorylation is necessary for interaction with BRCA1, and is cell-cycle regulated. Defects in BRIP1 are a cause of susceptibility to breast cancer (BC) [MIM:114480]. A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. Defects in BRIP1 are the cause of Fanconi anemia complementation group J (FANCJ) [MIM:609054]. It is a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Belongs to the DEAD box helicase family. DEAH subfamily. Contains 1 helicase ATP-binding domain. Sequence=BAC11156.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Name=Fanconi Anemia Mutation Database; URL="http://www.rockefeller.edu/fanconi/mutate/jumpj.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BRIP1"; DNA damage checkpoint nucleotide binding nucleic acid binding DNA binding DNA helicase activity chromatin binding RNA helicase activity helicase activity protein binding ATP binding nucleus nucleoplasm cytoplasm nucleobase-containing compound metabolic process DNA replication DNA repair nucleotide-excision repair double-strand break repair regulation of transcription from RNA polymerase II promoter cellular response to DNA damage stimulus synapsis spermatogenesis spermatogonial cell division spermatid development negative regulation of cell proliferation male gonad development response to toxic substance negative regulation of gene expression meiotic DNA double-strand break processing involved in reciprocal meiotic recombination hydrolase activity hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides nuclear membrane DNA duplex unwinding metal ion binding chiasma assembly iron-sulfur cluster binding 4 iron, 4 sulfur cluster binding cellular response to vitamin cellular response to hypoxia seminiferous tubule development regulation of signal transduction by p53 class mediator cellular response to angiotensin double-strand break repair involved in meiotic recombination uc002izk.1 uc002izk.2 uc002izk.3 uc002izk.4 
ENST00000259021.9 KAT7 ENST00000259021.9 Homo sapiens lysine acetyltransferase 7 (KAT7), transcript variant 1, mRNA. (from RefSeq NM_007067) B3KN74 B4DFB4 B4DFE0 ENST00000259021.1 ENST00000259021.2 ENST00000259021.3 ENST00000259021.4 ENST00000259021.5 ENST00000259021.6 ENST00000259021.7 ENST00000259021.8 HBO1 HBOa KAT7_HUMAN MYST2 NM_007067 O95251 uc002ipm.1 uc002ipm.2 uc002ipm.3 uc002ipm.4 uc002ipm.5 The protein encoded by this gene is part of the multimeric HBO1 complex, which possesses histone H4-specific acetyltransferase activity. This activity is required for functional replication origins and is involved in transcriptional activation of some genes. In both cases, the acetylation of histone H4 helps unfold chromatin so that the DNA can be accessed and replicated or transcribed. [provided by RefSeq, Oct 2016]. Component of the HBO1 complex which has a histone H4- specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Through chromatin acetylation it may regulate DNA replication and act as a coactivator of TP53-dependent transcription. Specifically represses AR-mediated transcription. Acetyl-CoA + [histone] = CoA + acetyl- [histone]. Component of the HBO1 complex composed at least of ING4 or ING5, KAT7/HBO1, MEAF6, and one of PHF15, PHF16 and PHF17. Interacts with MCM2 and ORC1L. Interacts with the androgen receptor (AR) in the presence of dihydrotestosterone. P10275:AR; NbExp=5; IntAct=EBI-473199, EBI-608057; Q99728:BARD1; NbExp=2; IntAct=EBI-473199, EBI-473181; Q9P2H0:KIAA1377; NbExp=2; IntAct=EBI-473199, EBI-473176; P08670:VIM; NbExp=3; IntAct=EBI-473199, EBI-353844; Nucleus, nucleoplasm. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O95251-1; Sequence=Displayed; Name=2; IsoId=O95251-2; Sequence=VSP_042553, VSP_042554; Note=No experimental confirmation available; Name=3; IsoId=O95251-3; Sequence=VSP_042552, VSP_042553, VSP_042554; Note=No experimental confirmation available; Ubiquitously expressed, with highest levels in testis. The C2HC-type zinc finger is required for interaction with MCM2 and ORC1L. The N-terminus is involved in transcriptional repression, while the C-terminus mediates AR-interaction (By similarity). Phosphorylated upon DNA damage, probably by ATM or ATR. Phosphorylation at Ser-57 by PLK1 during mitosis seems important for prereplicative complex formation and DNA replication licensing, and requires prior Phosphorylation at Thr-85 and Thr-88 by CDK1. Autoacetylation at Lys-432 is required for proper function (By similarity). Belongs to the MYST (SAS/MOZ) family. Contains 1 C2HC-type zinc finger. histone acetyltransferase complex nuclear chromatin DNA replication origin binding transcription factor activity, sequence-specific DNA binding histone acetyltransferase activity protein binding nucleus nucleoplasm cytoplasm cytosol DNA replication chromatin organization regulation of transcription, DNA-templated zinc ion binding histone acetylation transferase activity transferase activity, transferring acyl groups internal peptidyl-lysine acetylation stress-activated protein kinase signaling cascade histone binding histone H3 acetylation histone H4-K5 acetylation histone H4-K8 acetylation histone H4-K12 acetylation transcription regulatory region DNA binding negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding response to sorbitol response to hydroxyurea response to actinomycin D response to dithiothreitol response to anisomycin positive regulation of histone H4 acetylation positive regulation of protein localization to nucleus nucleolus histone H4-K16 acetylation uc002ipm.1 uc002ipm.2 uc002ipm.3 uc002ipm.4 uc002ipm.5 
ENST00000259030.3 RTP4 ENST00000259030.3 Homo sapiens receptor transporter protein 4 (RTP4), mRNA. (from RefSeq NM_022147) ENST00000259030.1 ENST00000259030.2 IFRG28 NM_022147 Q96DX8 Q9H4F3 RTP4_HUMAN uc003frm.1 uc003frm.2 uc003frm.3 uc003frm.4 uc003frm.5 Membrane; Single-pass type III membrane protein (Potential). By interferons. Belongs to the TMEM7 family. detection of chemical stimulus involved in sensory perception of bitter taste protein binding cytoplasm protein targeting to membrane membrane integral component of membrane olfactory receptor binding protein insertion into membrane defense response to virus uc003frm.1 uc003frm.2 uc003frm.3 uc003frm.4 uc003frm.5 
ENST00000259037.8 NDUFB5 ENST00000259037.8 Homo sapiens NADH:ubiquinone oxidoreductase subunit B5 (NDUFB5), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_002492) ENST00000259037.1 ENST00000259037.2 ENST00000259037.3 ENST00000259037.4 ENST00000259037.5 ENST00000259037.6 ENST00000259037.7 NDUB5_HUMAN NM_002492 O43674 Q561V6 uc003fkc.1 uc003fkc.2 uc003fkc.3 uc003fkc.4 uc003fkc.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 locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]. 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=O43674-1; Sequence=Displayed; Name=2; IsoId=O43674-2; Sequence=VSP_042516; Note=No experimental confirmation available; Belongs to the complex I NDUFB5 subunit family. nucleoplasm mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex I mitochondrial electron transport, NADH to ubiquinone NADH dehydrogenase (ubiquinone) activity membrane integral component of membrane mitochondrial respiratory chain complex I assembly oxidation-reduction process respiratory chain uc003fkc.1 uc003fkc.2 uc003fkc.3 uc003fkc.4 uc003fkc.5 
ENST00000259050.8 MARCHF7 ENST00000259050.8 Homo sapiens membrane associated ring-CH-type finger 7 (MARCHF7), transcript variant 32, non-coding RNA. (from RefSeq NR_164794) A8K9X1 AXOT D3DPB0 ENST00000259050.1 ENST00000259050.2 ENST00000259050.3 ENST00000259050.4 ENST00000259050.5 ENST00000259050.6 ENST00000259050.7 MARCH7 MARH7_HUMAN NR_164794 Q53GQ1 Q9BTR9 Q9H992 RNF177 uc002uax.1 uc002uax.2 uc002uax.3 uc002uax.4 uc002uax.5 MARCH7 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Mar 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803615.185514.1, SRR1803617.99351.1 [ECO:0000332] ##Evidence-Data-END## E3 ubiquitin-protein ligase which may specifically enhance the E2 activity of HIP2. 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. Protein modification; protein ubiquitination. The RING-CH-type zinc finger domain is required for E3 ligase activity. Contains 1 RING-CH-type zinc finger. regulation of tolerance induction nucleus cytosol plasma membrane zinc ion binding positive regulation of cell proliferation protein ubiquitination transferase activity enzyme binding ubiquitin conjugating enzyme binding negative regulation of T cell proliferation ubiquitin binding negative regulation of DNA damage response, signal transduction by p53 class mediator metal ion binding protein stabilization protein autoubiquitination MDM2/MDM4 family protein binding negative regulation of proteasomal protein catabolic process negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator positive regulation of protein polyubiquitination negative regulation of protein autoubiquitination uc002uax.1 uc002uax.2 uc002uax.3 uc002uax.4 uc002uax.5 
ENST00000259053.6 CD302 ENST00000259053.6 Homo sapiens CD302 molecule (CD302), transcript variant 1, mRNA. (from RefSeq NM_014880) A8K5G4 B4E2T9 CD302_HUMAN CLEC13A DCL1 ENST00000259053.1 ENST00000259053.2 ENST00000259053.3 ENST00000259053.4 ENST00000259053.5 KIAA0022 NM_014880 Q15009 Q8IX05 uc002uba.1 uc002uba.2 uc002uba.3 uc002uba.4 uc002uba.5 CD302 is a C-type lectin receptor involved in cell adhesion and migration, as well as endocytosis and phagocytosis (Kato et al., 2007 [PubMed 17947679]).[supplied by OMIM, Aug 2008]. Potential multifunctional C-type lectin receptor that may play roles in endocytosis and phagocytosis as well as in cell adhesion and migration. Membrane; Single-pass type I membrane protein (Potential). Cell projection, filopodium. Cytoplasm, cell cortex. Cell projection, microvillus. Note=Colocalizes with F- actin in filopodia, cellular cortex and microvilli of the apical cell surface. Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q8IX05-1; Sequence=Displayed; Note=Produced by intergenic splicing of LY75 and CD302; Name=4; IsoId=O60449-1; Sequence=External; Name=5; IsoId=Q8IX05-2; Sequence=VSP_044258, VSP_044259; Name=2; Synonyms=Fusion protein variant V34-2; IsoId=O60449-2; Sequence=External; Note=Produced by intergenic splicing of LY75 and CD302; Name=3; Synonyms=Fusion protein variant V33-2; IsoId=O60449-3; Sequence=External; Note=Produced by intergenic splicing of LY75 and CD302; Expressed at moderate levels in monocytes, myeloid blood dendritic cells and granulocytes and at low levels in plasmacytoid blood dendritic cells, monocyte-derived ma crophages and monocyte-derived dendritic cells, with no expression detected in T-lymphocytes, B-lymphocytes and natural killer cells (at protein level). Expressed widely in different tissues, with highest expression levels in liver, lung, peripheral blood leukocytes and spleen, and lowest levels in neuronal tissues, skeletal muscle and ovary. Isoform 2 and isoform 3 are expressed in malignant Hodgkin lymphoma cells called Hodgkin and Reed- Sternberg (HRS) cells. Expressed at relatively high levels in fetal lung, liver, spleen and kidney with lower expression levels detected in heart, thymus and brain. May be heterogeneously N-glycosylated in some cell types. Isoform 2 and isoform 3 are produced in HRS cells by a transcriptional control mechanism which cotranscribe an mRNA containing LY75 and CD302 prior to generating the intergenically spliced mRNA to produce LY75/CD302 fusion proteins. Contains 1 C-type lectin domain. transmembrane signaling receptor activity cytoplasm microvillus cell cortex phagocytosis membrane integral component of membrane filopodium carbohydrate binding cell projection uc002uba.1 uc002uba.2 uc002uba.3 uc002uba.4 uc002uba.5 
ENST00000259056.5 GALNT5 ENST00000259056.5 Homo sapiens polypeptide N-acetylgalactosaminyltransferase 5 (GALNT5), transcript variant 1, mRNA. (from RefSeq NM_014568) A5PKZ1 ENST00000259056.1 ENST00000259056.2 ENST00000259056.3 ENST00000259056.4 GALT5_HUMAN NM_014568 Q7Z7M9 Q9UGK7 Q9UHL6 uc002tzg.1 uc002tzg.2 uc002tzg.3 uc002tzg.4 uc002tzg.5 The protein encoded by this gene is a membrane-bound polypeptide N-acetylgalactosaminyltransferase that is found in the Golgi. The encoded protein catalyzes the first step in the mucin-type O-glycosylation of Golgi proteins, transfering an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. [provided by RefSeq, Aug 2016]. Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward EA2 peptide substrate, but has a weak activity toward Muc2 or Muc1b substrates (By similarity). UDP-N-acetyl-D-galactosamine + polypeptide = UDP + N-acetyl-D-galactosaminyl-polypeptide. Manganese (By similarity). Calcium (By similarity). Protein modification; protein glycosylation. Interacts with EXT2. Does not interact with EXT1, EXTL1 or EXTL3. Golgi apparatus membrane; Single-pass type II membrane protein (By similarity). There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding (By similarity). The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity (By similarity). Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Contains 1 ricin B-type lectin domain. Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; Name=Functional Glycomics Gateway - GTase; Note=Polypeptide N-acetylgalactosaminyltransferase 5; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_487"; Golgi membrane polypeptide N-acetylgalactosaminyltransferase activity cellular_component Golgi apparatus glycosaminoglycan biosynthetic process protein glycosylation membrane integral component of membrane O-glycan processing transferase activity transferase activity, transferring glycosyl groups carbohydrate binding metal ion binding uc002tzg.1 uc002tzg.2 uc002tzg.3 uc002tzg.4 uc002tzg.5 
ENST00000259075.6 TANK ENST00000259075.6 Homo sapiens TRAF family member associated NFKB activator (TANK), transcript variant 1, mRNA. (from RefSeq NM_004180) D3DPB5 ENST00000259075.1 ENST00000259075.2 ENST00000259075.3 ENST00000259075.4 ENST00000259075.5 ITRAF NM_004180 Q7Z4J6 Q92844 Q92885 TANK_HUMAN TRAF2 uc002ubr.1 uc002ubr.2 uc002ubr.3 The TRAF (tumor necrosis factor receptor-associated factor) family of proteins associate with and transduce signals from members of the tumor necrosis factor receptor superfamily. The protein encoded by this gene is found in the cytoplasm and can bind to TRAF1, TRAF2, or TRAF3, thereby inhibiting TRAF function by sequestering the TRAFs in a latent state in the cytoplasm. For example, the protein encoded by this gene can block TRAF2 binding to LMP1, the Epstein-Barr virus transforming protein, and inhibit LMP1-mediated NF-kappa-B activation. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]. Acts as a regulator of TRAF function by maintaining them in a latent state. Overexpression inhibits TRAF2-mediated NF- kappa-B activation signaled by CD40, TNFR1 and TNFR2. Blocks TRAF2 binding to LMP1 and inhibits LMP1-mediated NF-kappa-B activation. May be involved in I-kappa-B-kinase (IKK) regulation; may function as an adapter for kinases such as TBK1 or IKBKE that can modulate IKK activity. Interacts with TBK1 (via TRAF-C domain). Interacts with TRAF1 (via TRAF-C domain). Interacts with TRAF2 (via TRAF-C domain); the interaction is disrupted by the phosphorylation of TANK by IKBKE. Interacts with TRAF3 (via TRAF-C domain); the interaction with TRAF3 is weaker than the interactions with TRAF1 and TRAF3. Interacts with IKBKG; the interaction is enhanced by IKBKE and TBK1. Part of a ternary complex consisting of TANK, IKBKB and IKBKG. O96018:APBA3; NbExp=2; IntAct=EBI-356349, EBI-6115839; P53350:PLK1; NbExp=3; IntAct=EBI-356349, EBI-476768; Q9UHD2:TBK1; NbExp=3; IntAct=EBI-356349, EBI-356402; Q12933:TRAF2; NbExp=3; IntAct=EBI-356349, EBI-355744; Q13114:TRAF3; NbExp=3; IntAct=EBI-356349, EBI-357631; Cytoplasm. Event=Alternative splicing; Named isoforms=3; Name=Long; IsoId=Q92844-1; Sequence=Displayed; Name=Short; IsoId=Q92844-2; Sequence=VSP_004442, VSP_004443; Note=No experimental confirmation available; Name=3; IsoId=Q92844-3; Sequence=VSP_043702, VSP_043703; Note=No experimental confirmation available; Ubiquitous. Phosphorylated by IKBKE. Contains 1 C2H2-type zinc finger. protein binding cytoplasm cytosol proteolysis cellular response to DNA damage stimulus signal transduction I-kappaB kinase/NF-kappaB signaling viral process ubiquitin protein ligase binding macromolecular complex TRIF-dependent toll-like receptor signaling pathway deubiquitinase activator activity negative regulation of I-kappaB kinase/NF-kappaB signaling metal ion binding cellular response to interleukin-1 cellular response to tumor necrosis factor cellular response to ionizing radiation positive regulation of protein deubiquitination positive regulation of ubiquitin-specific protease activity thiol-dependent ubiquitin-specific protease activity uc002ubr.1 uc002ubr.2 uc002ubr.3 
ENST00000259089.9 BLK ENST00000259089.9 Homo sapiens BLK proto-oncogene, Src family tyrosine kinase (BLK), transcript variant 1, mRNA. (from RefSeq NM_001715) BLK_HUMAN ENST00000259089.1 ENST00000259089.2 ENST00000259089.3 ENST00000259089.4 ENST00000259089.5 ENST00000259089.6 ENST00000259089.7 ENST00000259089.8 NM_001715 P51451 Q16291 Q96IN1 uc003wty.1 uc003wty.2 uc003wty.3 uc003wty.4 uc003wty.5 This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 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 :: Z33998.1, SRR1163657.251503.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000259089.9/ ENSP00000259089.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Non-receptor tyrosine kinase involved in B-lymphocyte development, differentiation and signaling. B-cell receptor (BCR) signaling requires a tight regulation of several protein tyrosine kinases and phosphatases, and associated coreceptors. Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation. Signaling through BLK plays an important role in transmitting signals through surface immunoglobulines and supports the pro-B to pre-B transition, as well as the signaling for growth arrest and apoptosis downstream of B-cell receptor. Specifically binds and phosphorylates CD79A at 'Tyr-188'and 'Tyr-199', as well as CD79B at 'Tyr-196' and 'Tyr- 207'. Phosphorylates also the immunoglobuline G receptors FCGR2A, FCGR2B and FCGR2C. With FYN and LYN, plays an essential role in pre-B-cell receptor (pre-BCR)-mediated NF-kappa-B activation. Contributes also to BTK activation by indirectly stimulating BTK intramolecular autophosphorylation. In pancreatic islets, acts as a modulator of beta-cells function through the up-regulation of PDX1 and NKX6-1 and consequent stimulation of insulin secretion in response to glucose. ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. Antibody-mediated surface engagement of the B- cell antigen receptor (BCR) which results in the phosphorylation of BLK on tyrosine residues, stimulates the enzymatic activity (By similarity). Interacts with CBL (via SH2 domain). Interacts with CD79A and CD79B (via SH2 domain) (By similarity). Cell membrane; Lipid-anchor (By similarity). Note=Present and active in lipid rafts. Membrane location is required for the phosphorylation of CD79A and CD79B (By similarity). Expressed in lymphatic organs, pancreatic islets, Leydig cells, striate ducts of salivary glands and hair follicles. Expression is under the control of NF-kappa-B as well as the B-cell specific transcription factors PAX5 and EBF1. Phosphorylated on tyrosine residues after antibody-mediated surface engagement of the B-cell antigen receptor (BCR) (By similarity). Ubiquitination of activated BLK by the UBE3A ubiquitin protein ligase leads to its degradation by the ubiquitin- proteasome pathway (By similarity). Defects in BLK are a cause of maturity-onset diabetes of the young type 11 (MODY11) [MIM:613375]. MODY11 is a form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. Belongs to the protein kinase superfamily. Tyr protein kinase family. SRC subfamily. Contains 1 protein kinase domain. Contains 1 SH2 domain. Contains 1 SH3 domain. nucleotide binding protein kinase activity protein tyrosine kinase activity non-membrane spanning protein tyrosine kinase activity receptor binding protein binding ATP binding cytosol plasma membrane protein phosphorylation transmembrane receptor protein tyrosine kinase signaling pathway membrane kinase activity phosphorylation transferase activity peptidyl-tyrosine phosphorylation cell differentiation extrinsic component of cytoplasmic side of plasma membrane positive regulation of insulin secretion intracellular signal transduction peptidyl-tyrosine autophosphorylation regulation of cell proliferation B cell receptor signaling pathway regulation of B cell receptor signaling pathway uc003wty.1 uc003wty.2 uc003wty.3 uc003wty.4 uc003wty.5 
ENST00000259119.9 SKIL ENST00000259119.9 Homo sapiens SKI like proto-oncogene (SKIL), transcript variant 1, mRNA. (from RefSeq NM_005414) A6NGT1 B4DT50 ENST00000259119.1 ENST00000259119.2 ENST00000259119.3 ENST00000259119.4 ENST00000259119.5 ENST00000259119.6 ENST00000259119.7 ENST00000259119.8 NM_005414 O00464 P12756 P12757 Q07501 SKIL_HUMAN SNO uc003fgu.1 uc003fgu.2 uc003fgu.3 uc003fgu.4 uc003fgu.5 The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein binds to the promoter region of TGFB-responsive genes and recruits a nuclear repressor complex. TGFB signaling causes SMAD3 to enter the nucleus and degrade this protein, allowing these genes to be activated. Four transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. May have regulatory role in cell division or differentiation in response to extracellular signals. Interacts with SMAD2, SMAD3 and RNF111. Isoform 1 interacts with WWP1. Event=Alternative splicing; Named isoforms=5; Name=SNON; IsoId=P12757-1; Sequence=Displayed; Name=SNOA; IsoId=P12757-2; Sequence=VSP_004392, VSP_004394; Name=SNON2; IsoId=P12757-3; Sequence=VSP_004395, VSP_004396; Name=SNOI; IsoId=P12757-4; Sequence=VSP_004393; Name=5; IsoId=P12757-5; Sequence=VSP_040099; Note=No experimental confirmation available; Isoform SNON and isoform SNOA are widely expressed. Highest expression is found in skeletal muscle, followed by placenta and lung. Lowest expression in heart, brain and pancreas. Isoform SNOI expression is restricted to skeletal muscle. Belongs to the SKI family. 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 acrosomal vesicle blastocyst formation lymphocyte homeostasis chromatin binding transcription corepressor activity protein binding nucleus nucleoplasm cytoplasm cell cycle arrest transforming growth factor beta receptor signaling pathway spermatogenesis skeletal muscle tissue development PML body protein domain specific binding negative regulation of transforming growth factor beta receptor signaling pathway negative regulation of BMP signaling pathway macromolecular complex response to cytokine macromolecular complex binding negative regulation of cell differentiation SMAD binding response to antibiotic positive regulation of axonogenesis protein homotrimerization protein heterotrimerization lens fiber cell differentiation response to growth factor positive regulation of extrinsic apoptotic signaling pathway via death domain receptors positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage DNA binding uc003fgu.1 uc003fgu.2 uc003fgu.3 uc003fgu.4 uc003fgu.5 
ENST00000259154.9 KCTD3 ENST00000259154.9 Homo sapiens potassium channel tetramerization domain containing 3 (KCTD3), transcript variant 1, mRNA. (from RefSeq NM_016121) A0AV15 D3DTA6 ENST00000259154.1 ENST00000259154.2 ENST00000259154.3 ENST00000259154.4 ENST00000259154.5 ENST00000259154.6 ENST00000259154.7 ENST00000259154.8 KCTD3_HUMAN NM_016121 Q49AG7 Q504Q9 Q6PJN6 Q8ND58 Q8NDJ0 Q8WX16 Q9Y597 uc001hks.1 uc001hks.2 uc001hks.3 uc001hks.4 uc001hks.5 uc001hks.6 This gene encodes a member of the potassium channel tetramerization-domain containing (KCTD) protein family. Members of this protein family regulate the biophysical characteristics of ion channels. In mouse, this protein interacts with hyperpolarization-activated cyclic nucleotide-gated channel complex 3 and enhances its cell surface expression and current density. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. O95777:NAA38; NbExp=1; IntAct=EBI-373299, EBI-347779; Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9Y597-1; Sequence=Displayed; Name=2; IsoId=Q9Y597-2; Sequence=VSP_020069; Note=No experimental confirmation available; Name=3; IsoId=Q9Y597-3; Sequence=VSP_020068; Note=No experimental confirmation available; Broadly expressed in normal tissues. Reacts with sera from 5-25 per cent of cancer patients but not with sera from normal donors. Seventy per cent of renal cancer patients have antibodies against one or a panel of these antigens. Belongs to the KCTD3 family. Contains 1 BTB (POZ) domain. Contains 5 WD repeats. Sequence=AAH13868.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; plasma membrane membrane protein homooligomerization uc001hks.1 uc001hks.2 uc001hks.3 uc001hks.4 uc001hks.5 uc001hks.6 
ENST00000259199.9 CBWD2 ENST00000259199.9 Homo sapiens COBW domain containing 2 (CBWD2), transcript variant 7, non-coding RNA. (from RefSeq NR_138473) CBWD2_HUMAN ENST00000259199.1 ENST00000259199.2 ENST00000259199.3 ENST00000259199.4 ENST00000259199.5 ENST00000259199.6 ENST00000259199.7 ENST00000259199.8 NR_138473 Q0VAN3 Q8IUF1 uc002tju.1 uc002tju.2 uc002tju.3 uc002tju.4 uc002tju.5 P27348:YWHAQ; NbExp=1; IntAct=EBI-359159, EBI-359854; Belongs to the CobW family. Contains 1 cobW C-terminal domain. nucleotide binding ATP binding uc002tju.1 uc002tju.2 uc002tju.3 uc002tju.4 uc002tju.5 
ENST00000259205.5 IL36G ENST00000259205.5 Homo sapiens interleukin 36 gamma (IL36G), transcript variant 1, mRNA. (from RefSeq NM_019618) ENST00000259205.1 ENST00000259205.2 ENST00000259205.3 ENST00000259205.4 IL1E IL1F9 IL1H1 IL1RP2 IL36G_HUMAN NM_019618 Q56B91 Q6UVX7 Q7RTZ9 Q9NZH8 UNQ2456/PRO5737 uc002tio.1 uc002tio.2 uc002tio.3 uc002tio.4 The protein encoded by this gene is a member of the interleukin 1 cytokine family. The activity of this cytokine is mediated by interleukin 1 receptor-like 2 (IL1RL2/IL1R-rp2), and is specifically inhibited by interleukin 1 family, member 5 (IL1F5/IL-1 delta). Interferon-gamma, tumor necrosis factor-alpha and interleukin 1, beta (IL1B) are reported to stimulate the expression of this cytokine in keratinocytes. The expression of this cytokine in keratinocytes can also be induced by a contact hypersensitivity reaction or herpes simplex virus infection. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. [provided by RefSeq, May 2019]. Function as an agonist of NF-kappa B activation through the orphan IL-1-receptor-related protein 2. Could constitute part of an independent signaling system analogous to interleukin-1 alpha (IL-1A), beta (IL-1B) receptor agonist and interleukin-1 receptor type I (IL-1R1), that is present in epithelial barriers and takes part in local inflammatory response. Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NZH8-1; Sequence=Displayed; Name=2; IsoId=Q9NZH8-2; Sequence=VSP_013002; Note=No experimental confirmation available; Highly expressed in tissues containing epithelial cells: skin, lung, stomach and esophagus. In skin is expressed only in keratinocytes but not in fibroblasts, endothelial cells or melanocytes. Up-regulated in lesional psoriasis skin. By TNF and by IFNG/IFN-gamma in keratinocytes. Belongs to the IL-1 family. Name=Wikipedia; Note=Interleukin-1 entry; URL="http://en.wikipedia.org/wiki/Interleukin_1"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il1f9/"; immune system process cytokine activity interleukin-1 receptor binding extracellular region extracellular space inflammatory response immune response cell-cell signaling cytokine-mediated signaling pathway neutrophil chemotaxis positive regulation of interleukin-6 production positive regulation of I-kappaB kinase/NF-kappaB signaling innate immune response positive regulation of JNK cascade cellular response to lipopolysaccharide uc002tio.1 uc002tio.2 uc002tio.3 uc002tio.4 
ENST00000259211.7 IL36A ENST00000259211.7 Homo sapiens interleukin 36 alpha (IL36A), mRNA. (from RefSeq NM_014440) B2RAD9 ENST00000259211.1 ENST00000259211.2 ENST00000259211.3 ENST00000259211.4 ENST00000259211.5 ENST00000259211.6 FIL1E IL1E IL1F6 IL36A_HUMAN NM_014440 Q53SR7 Q5BLR4 Q7RTZ8 Q9UHA7 uc010yxr.1 uc010yxr.2 uc010yxr.3 uc010yxr.4 The protein encoded by this gene is a cytokine that can activate NF-kappa-B and MAPK signaling pathways to generate an inflammatory response. The encoded protein functions primarily in skin and demonstrates increased expression in psoriasis. In addition, decreased expression of this gene has been linked to a poor prognosis in both hepatocellular carcinoma and colorectal cancer patients. [provided by RefSeq, Nov 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK314149.1, BC107043.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2147975, SAMEA2156670 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000259211.7/ ENSP00000259211.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Secreted (Potential). Expressed in immune system and fetal brain, but not in other tissues tested or in multiple hematopoietic cell lines. Binding analysis failed to detect interaction with multiple IL1R family members. Belongs to the IL-1 family. Name=Wikipedia; Note=Interleukin-1 entry; URL="http://en.wikipedia.org/wiki/Interleukin_1"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il1f6/"; positive regulation of cytokine production immune system process cytokine activity interleukin-1 receptor binding extracellular region extracellular space inflammatory response immune response cytokine-mediated signaling pathway neutrophil chemotaxis positive regulation of interleukin-6 production positive regulation of I-kappaB kinase/NF-kappaB signaling innate immune response positive regulation of JNK cascade cellular response to lipopolysaccharide uc010yxr.1 uc010yxr.2 uc010yxr.3 uc010yxr.4 
ENST00000259216.6 CFC1 ENST00000259216.6 Homo sapiens cripto, FRL-1, cryptic family 1 (CFC1), transcript variant 1, mRNA. (from RefSeq NM_032545) B2RCY0 B9EJD3 CFC1_HUMAN ENST00000259216.1 ENST00000259216.2 ENST00000259216.3 ENST00000259216.4 ENST00000259216.5 NM_032545 P0CG37 Q53T05 Q9GZR3 uc002tro.1 uc002tro.2 uc002tro.3 uc002tro.4 This gene encodes a member of the epidermal growth factor (EGF)- Cripto, Frl-1, and Cryptic (CFC) family, which are involved in signalling during embryonic development. Proteins in this family share a variant EGF-like motif, a conserved cysteine-rich domain, and a C-terminal hydrophobic region. The protein encoded by this gene is necessary for patterning the left-right embryonic axis. Mutations in this gene are associated with defects in organ development, including autosomal visceral heterotaxy and congenital heart disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. NODAL coreceptor involved in the correct establishment of the left-right axis. May play a role in mesoderm and/or neural patterning during gastrulation. Cell membrane; Lipid-anchor, GPI-anchor. Secreted. Note=Does not exhibit a typical GPI-signal sequence. The C-ter hydrophilic extension of the GPI-signal sequence reduces the efficiency of processing and could lead to the production of an secreted unprocessed form. This extension is found only in primates. N-glycosylated (By similarity). Defects in CFC1 are the cause of visceral heterotaxy autosomal type 2 (HTX2) [MIM:605376]. A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. It results in an abnormal arrangement of visceral organs, and a wide variety of congenital defects including cardiac malformations and situs inversus or situs ambiguus. Defects in CFC1 are a cause of transposition of the great arteries dextro-looped type 2 (DTGA2) [MIM:613853]. A congenital heart defect consisting of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. Patients often have atrial and/or ventricular septal defects or other types of shunting that allow some mixing between the circulations in order to support life minimally, but surgical intervention is always required. Defects in CFC1 are a cause of conotruncal heart malformations (CTHM) [MIM:217095]. CTHM consist of cardiac outflow tract defects, such as tetralogy of Fallot, pulmonary atresia, double-outlet right ventricle, truncus arteriosus communis, and aortic arch anomalies. Contains 1 EGF-like domain. This gene differs from CFC1B by only one residue at position 78:R -> W. R78W is also thought to be a CFC1 polymorphism which has been shown to lead to a different cell surface distribution and activity (PubMed:11799476 and PubMed:11062482). Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CFC1"; molecular_function receptor binding cellular_component extracellular region plasma membrane multicellular organism development determination of left/right symmetry gastrulation heart development anterior/posterior pattern specification cell surface membrane BMP signaling pathway anchored component of membrane nodal signaling pathway nodal binding anatomical structure development activin receptor binding uc002tro.1 uc002tro.2 uc002tro.3 uc002tro.4 
ENST00000259229.7 CCDC115 ENST00000259229.7 Homo sapiens coiled-coil domain containing 115 (CCDC115), transcript variant 1, mRNA. (from RefSeq NM_032357) CC115_HUMAN ENST00000259229.1 ENST00000259229.2 ENST00000259229.3 ENST00000259229.4 ENST00000259229.5 ENST00000259229.6 NM_032357 Q96NT0 Q9BR88 uc002tqy.1 uc002tqy.2 uc002tqy.3 uc002tqy.4 The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) vesicles in some human cells. The encoded protein shares some homology with the yeast V-ATPase assembly factor Vma22p, and the orthologous protein in mouse promotes cell proliferation and suppresses cell death. Defects in this gene are a cause of congenital disorder of glycosylation, type IIo in humans. [provided by RefSeq, Mar 2016]. Endosome (By similarity). Lysosome (By similarity). Expressed throughout the brain. lysosome endosome endoplasmic reticulum endoplasmic reticulum-Golgi intermediate compartment cellular iron ion homeostasis lysosomal lumen acidification membrane vacuolar proton-transporting V-type ATPase complex COPI-coated vesicle cytoplasmic vesicle cellular response to increased oxygen levels extrinsic component of endoplasmic reticulum membrane unfolded protein binding vacuolar proton-transporting V-type ATPase complex assembly lysosomal protein catabolic process uc002tqy.1 uc002tqy.2 uc002tqy.3 uc002tqy.4 
ENST00000259239.8 IMP4 ENST00000259239.8 Homo sapiens IMP U3 small nucleolar ribonucleoprotein 4 (IMP4), transcript variant 1, mRNA. (from RefSeq NM_033416) BXDC4 ENST00000259239.1 ENST00000259239.2 ENST00000259239.3 ENST00000259239.4 ENST00000259239.5 ENST00000259239.6 ENST00000259239.7 IMP4_HUMAN NM_033416 Q96G21 uc002tra.1 uc002tra.2 uc002tra.3 The protein encoded by this gene, along with IMP3 and MPP10, is part of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP) complex. This complex is necessary for the early cleavage steps of pre-18S ribosomal RNA processing. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.71937.1, SRR1803611.200369.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000259239.8/ ENSP00000259239.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Component of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP). Required for the early cleavages during pre-18S ribosomal RNA processing. Component of a heterotrimeric complex containing IMP3, IMP4 and MPHOSPH10. Interacts with MPHOSPH10. Nucleus, nucleolus. Contains 1 Brix domain. fibrillar center protein binding nucleus nucleoplasm nucleolus rRNA processing snoRNA binding preribosome small-subunit processome Mpp10 complex ribosome biogenesis uc002tra.1 uc002tra.2 uc002tra.3 
ENST00000259241.7 HS6ST1 ENST00000259241.7 Homo sapiens heparan sulfate 6-O-sulfotransferase 1 (HS6ST1), mRNA. (from RefSeq NM_004807) B4DEP2 B4DJ29 ENST00000259241.1 ENST00000259241.2 ENST00000259241.3 ENST00000259241.4 ENST00000259241.5 ENST00000259241.6 H6ST1_HUMAN HS6ST NM_004807 O60243 Q53SL2 Q9BVI1 uc002tpt.1 uc002tpt.2 uc002tpt.3 uc002tpt.4 uc002tpt.5 uc002tpt.6 The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological activities. This enzyme is a type II integral membrane protein and is responsible for 6-O-sulfation of heparan sulfate. This enzyme does not share significant sequence similarity with other known sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AB006179.1, BC096239.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000259241.7/ ENSP00000259241.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate. 3'-phosphoadenylyl sulfate + [heparan sulfate]-glucosamine = adenosine 3',5'-bisphosphate + [heparan sulfate]-glucosamine 6-sulfate. Membrane; Single-pass type II membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O60243-1; Sequence=Displayed; Name=2; IsoId=O60243-2; Sequence=VSP_037048, VSP_037049; Note=No experimental confirmation available; Expressed in fetal brain. N-glycosylated (By similarity). Belongs to the sulfotransferase 6 family. Sequence=AAY14736.1; Type=Erroneous initiation; Sequence=BAA25760.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA25760.1; Type=Frameshift; Positions=5, 7; Sequence=BAG57153.1; Type=Erroneous initiation; Golgi membrane angiogenesis integral component of plasma membrane glycosaminoglycan biosynthetic process sulfotransferase activity heparan sulfate proteoglycan biosynthetic process heparan sulfate proteoglycan biosynthetic process, enzymatic modification membrane integral component of membrane transferase activity heparan sulfate 6-O-sulfotransferase activity lung alveolus development neuron development labyrinthine layer blood vessel development uc002tpt.1 uc002tpt.2 uc002tpt.3 uc002tpt.4 uc002tpt.5 uc002tpt.6 
ENST00000259253.11 UGGT1 ENST00000259253.11 Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 2, non-coding RNA. (from RefSeq NR_027671) ENST00000259253.1 ENST00000259253.10 ENST00000259253.2 ENST00000259253.3 ENST00000259253.4 ENST00000259253.5 ENST00000259253.6 ENST00000259253.7 ENST00000259253.8 ENST00000259253.9 GT NR_027671 Q53QP2 Q53SL3 Q8IW30 Q9H8I4 Q9NYU2 UGCGL1 UGGG1_HUMAN UGGT UGT1 UGTR uc002tps.1 uc002tps.2 uc002tps.3 uc002tps.4 uc002tps.5 UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]. Recognizes glycoproteins with minor folding defects. Reglucosylates single N-glycans near the misfolded part of the protein, thus providing quality control for protein folding in the endoplasmic reticulum. Reglucosylated proteins are recognized by calreticulin for recycling to the endoplasmic reticulum and refolding or degradation. Calcium or manganese. Protein modification; protein glycosylation. Monomer as well as in a tight complex with SEP15 (By similarity). P25942:CD40; NbExp=1; IntAct=EBI-1056389, EBI-525714; Q9NRB3:CHST12; NbExp=1; IntAct=EBI-1056389, EBI-1042837; P30450:HLA-A; NbExp=1; IntAct=EBI-1056389, EBI-1042870; P30457:HLA-A; NbExp=1; IntAct=EBI-1056389, EBI-1049899; Q9UGT4:SUSD2; NbExp=1; IntAct=EBI-1056389, EBI-1054721; Q92956:TNFRSF14; NbExp=1; IntAct=EBI-1056389, EBI-1056653; O95388:WISP1; NbExp=1; IntAct=EBI-1056389, EBI-1050638; Endoplasmic reticulum lumen. Endoplasmic reticulum-Golgi intermediate compartment. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NYU2-1; Sequence=Displayed; Name=2; IsoId=Q9NYU2-2; Sequence=VSP_036508; Higher levels in pancreas, skeletal muscle, kidney, and brain. Low levels in lung and heart. By tunicamycin and A23187. Induced 3-4 fold 10 hours after treatment. The N-terminal non-catalytic domain is assumed to mediate recognition of proteins with partial folding defects (By similarity). Belongs to the glycosyltransferase 8 family. Sequence=AAY14885.1; Type=Erroneous gene model prediction; Sequence=BAB14632.1; Type=Erroneous initiation; Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; UDP-glucose:glycoprotein glucosyltransferase activity protein binding endoplasmic reticulum endoplasmic reticulum lumen endoplasmic reticulum-Golgi intermediate compartment protein glycosylation transferase activity transferase activity, transferring glycosyl groups protein N-linked glycosylation via asparagine macromolecular complex endoplasmic reticulum quality control compartment unfolded protein binding 'de novo' posttranslational protein folding extracellular exosome ER-associated misfolded protein catabolic process UDP-glucosylation endoplasmic reticulum mannose trimming uc002tps.1 uc002tps.2 uc002tps.3 uc002tps.4 uc002tps.5 
ENST00000259254.9 GYPC ENST00000259254.9 Homo sapiens glycophorin C (Gerbich blood group) (GYPC), transcript variant 1, mRNA. (from RefSeq NM_002101) B2R522 ENST00000259254.1 ENST00000259254.2 ENST00000259254.3 ENST00000259254.4 ENST00000259254.5 ENST00000259254.6 ENST00000259254.7 ENST00000259254.8 GLPC GLPC_HUMAN GPC NM_002101 P04921 Q53SV9 Q92642 uc002tnq.1 uc002tnq.2 uc002tnq.3 uc002tnq.4 uc002tnq.5 uc002tnq.6 Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]. This protein is a minor sialoglycoprotein in human erythrocyte membranes. The blood group Gerbich antigens and receptors for Plasmodium falciparum merozoites are most likely located within the extracellular domain. Glycophorin-C plays an important role in regulating the stability of red cells. Cell membrane; Single-pass type III membrane protein. Note=Linked to the membrane via band 4.1. Event=Alternative splicing; Named isoforms=2; Name=Glycophorin-C; IsoId=P04921-1; Sequence=Displayed; Name=Glycophorin-D; IsoId=P04921-2; Sequence=VSP_001777; Glycophorin-C is expressed in erythrocytes. Glycophorin-D is ubiquitous. O-glycosylated with core 1 or possibly core 8 glycans. GYPC is responsible for the Gerbich blood group system. Deletion of exon 3 in GYPC changes the serologic phenotype of the Gerbich blood group system, resulting in Ge negativity. Ge negative individuals are protected against severe malaria due to erythrocytes resistance to Plasmodium falciparum invasion [MIM:611162]. Belongs to the glycophorin-C family. Sequence=CAA32093.1; Type=Frameshift; Positions=35; Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=gerbich"; Name=Wikipedia; Note=Glycophorin C entry; URL="http://en.wikipedia.org/wiki/Glycophorin_C"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/gypc/"; protein binding plasma membrane integral component of plasma membrane membrane integral component of membrane cortical cytoskeleton leukocyte migration uc002tnq.1 uc002tnq.2 uc002tnq.3 uc002tnq.4 uc002tnq.5 uc002tnq.6 
ENST00000259271.7 GAD2 ENST00000259271.7 Homo sapiens glutamate decarboxylase 2 (GAD2), transcript variant 1, mRNA. (from RefSeq NM_000818) ENST00000259271.1 ENST00000259271.2 ENST00000259271.3 ENST00000259271.4 ENST00000259271.5 ENST00000259271.6 NM_000818 Q5VZ30 Q5VZ30_HUMAN RP11-420F12.2-001 hCG_23434 uc001isq.1 uc001isq.2 uc001isq.3 This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantibody and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2008]. Pyridoxal phosphate (By similarity). Belongs to the group II decarboxylase family. catalytic activity glutamate decarboxylase activity cytoplasm cytosol glutamate decarboxylation to succinate glutamate binding lyase activity carboxy-lyase activity carboxylic acid metabolic process pyridoxal phosphate binding axon synaptic vesicle membrane anchored component of membrane cytoplasmic vesicle response to drug synapse protein heterodimerization activity perinuclear region of cytoplasm inhibitory synapse uc001isq.1 uc001isq.2 uc001isq.3 
ENST00000259335.8 ECPAS ENST00000259335.8 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt J3KN16) BC172431 ENST00000259335.1 ENST00000259335.2 ENST00000259335.3 ENST00000259335.4 ENST00000259335.5 ENST00000259335.6 ENST00000259335.7 J3KN16 J3KN16_HUMAN KIAA0368 uc004bfe.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. nucleus proteasome assembly binding, bridging uc004bfe.1 
ENST00000259339.7 TOR1B ENST00000259339.7 Homo sapiens torsin family 1 member B (TOR1B), transcript variant 6, non-coding RNA. (from RefSeq NR_134113) DQ1 ENST00000259339.1 ENST00000259339.2 ENST00000259339.3 ENST00000259339.4 ENST00000259339.5 ENST00000259339.6 FKSG18 NR_134113 O14657 TOR1B_HUMAN uc004byk.1 uc004byk.2 The protein encoded by this gene is an ATPase found primarily in the endoplasmic reticulum and nuclear envelope. This gene has a highly-similar neighboring gene, TOR1A, that encodes a protein that is likely to interact in a complex with this protein. Finally, this protein may act as a chaperone and play a role in maintaining the integrity of the nuclear envelope and endoplasmic reticulum. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]. May serve as a molecular chaperone assisting in the proper folding of secreted and/or membrane proteins (By similarity). Endoplasmic reticulum lumen (By similarity). Widely expressed with low levels in brain. Not detected in fetal brain. Belongs to the clpA/clpB family. Torsin subfamily. nucleotide binding protein binding ATP binding nucleus nuclear envelope cytoplasm endoplasmic reticulum endoplasmic reticulum lumen response to unfolded protein endoplasmic reticulum organization membrane hydrolase activity ATPase activity kinesin binding nuclear membrane protein localization to nucleus identical protein binding chaperone mediated protein folding requiring cofactor extracellular exosome nuclear membrane organization uc004byk.1 uc004byk.2 
ENST00000259351.10 RALGPS1 ENST00000259351.10 Homo sapiens Ral GEF with PH domain and SH3 binding motif 1 (RALGPS1), transcript variant 1, mRNA. (from RefSeq NM_014636) B4DR86 E9PBQ5 ENST00000259351.1 ENST00000259351.2 ENST00000259351.3 ENST00000259351.4 ENST00000259351.5 ENST00000259351.6 ENST00000259351.7 ENST00000259351.8 ENST00000259351.9 KIAA0351 NM_014636 O15059 Q5JS13 Q5JT60 Q5JT65 Q5JUG5 Q8N4S6 Q8N5H4 Q8WUV7 Q9NZ16 RALGEF2 RGPS1_HUMAN uc004bqo.1 uc004bqo.2 uc004bqo.3 uc004bqo.4 Guanine nucleotide exchange factor (GEF) for the small GTPase RALA. May be involved in cytoskeletal organization (By similarity). Guanine nucleotide exchange factor for. Interacts with the SH3 domains of GRB2, NCK1, PLCG1 and SRC. Cytoplasm. Cell membrane. Note=Associates with membranes through the PH domain. Event=Alternative splicing; Named isoforms=7; Name=1; Synonyms=RALGPS1B; IsoId=Q5JS13-1; Sequence=Displayed; Name=2; Synonyms=RALGPS1A; IsoId=Q5JS13-2; Sequence=VSP_033478, VSP_033480, VSP_033481; Note=No experimental confirmation available; Name=3; IsoId=Q5JS13-3; Sequence=VSP_033475, VSP_033479; Note=No experimental confirmation available; Name=4; IsoId=Q5JS13-4; Sequence=VSP_033476, VSP_033477; Note=No experimental confirmation available; Name=5; IsoId=Q5JS13-5; Sequence=VSP_033473, VSP_033474; Note=Gene prediction based on EST data. No experimental confirmation available; Name=6; IsoId=Q5JS13-6; Sequence=VSP_033471, VSP_033472; Note=No experimental confirmation available; Name=7; IsoId=Q5JS13-7; Sequence=VSP_033478, VSP_033481; Note=No experimental confirmation available; Widely expressed (at protein level). Isoform 2 is expressed in brain, colon, kidney, pancreas, prostate, skeletal muscle, small intestine, testis, thymus and uterus. Isoform 1 is expressed at high levels in heart and testis and at lower levels in brain, pancreas, skeletal muscle, small intestine and thymus. The PH domain mediates binding to membranes. It is required for efficient GEF activity. Contains 1 PH domain. Contains 1 Ras-GEF domain. Sequence=AAH19329.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAA20808.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; guanyl-nucleotide exchange factor activity cellular_component cytoplasm plasma membrane small GTPase mediated signal transduction Ral guanyl-nucleotide exchange factor activity membrane regulation of Ral protein signal transduction intracellular signal transduction uc004bqo.1 uc004bqo.2 uc004bqo.3 uc004bqo.4 
ENST00000259357.3 OR1J1 ENST00000259357.3 Homo sapiens olfactory receptor family 1 subfamily J member 1 (OR1J1), mRNA. (from RefSeq NM_001004451) A3KFL8 ENST00000259357.1 ENST00000259357.2 NM_001004451 OR1J1_HUMAN Q6IF10 Q8NGS3 Q96R88 uc011lyu.1 uc011lyu.2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: BC136938.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000259357.3/ ENSP00000259357.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Odorant receptor (Potential). Cell membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor 1 family. Name=Human Olfactory Receptor Data Exploratorium (HORDE); URL="http://bip.weizmann.ac.il/cgi-bin/HORDE/showGene.pl?key=symbol&value=OR1J1"; G-protein coupled receptor activity olfactory receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway sensory perception of smell membrane integral component of membrane response to stimulus detection of chemical stimulus involved in sensory perception of smell uc011lyu.1 uc011lyu.2 
ENST00000259362.1 OR13C9 ENST00000259362.1 Homo sapiens olfactory receptor family 13 subfamily C member 9 (OR13C9), mRNA. (from RefSeq NM_001001956) NM_001001956 O13C9_HUMAN Q6IFL2 Q8NGT0 uc011lvr.1 uc011lvr.2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000259362.1/ ENSP00000259362.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Odorant receptor (Potential). Cell membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor 1 family. Name=Human Olfactory Receptor Data Exploratorium (HORDE); URL="http://bip.weizmann.ac.il/cgi-bin/HORDE/showGene.pl?key=symbol&value=OR13C9"; G-protein coupled receptor activity olfactory receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway sensory perception of smell membrane integral component of membrane response to stimulus detection of chemical stimulus involved in sensory perception of smell uc011lvr.1 uc011lvr.2 
ENST00000259392.8 SLC31A2 ENST00000259392.8 Homo sapiens solute carrier family 31 member 2 (SLC31A2), mRNA. (from RefSeq NM_001860) ENST00000259392.1 ENST00000259392.2 ENST00000259392.3 ENST00000259392.4 ENST00000259392.5 ENST00000259392.6 ENST00000259392.7 NM_001860 Q53X94 Q53X94_HUMAN RP11-9H12.2-001 hCG_29184 uc004bgq.1 uc004bgq.2 uc004bgq.3 uc004bgq.4 uc004bgq.5 copper ion transmembrane transporter activity late endosome cellular copper ion homeostasis membrane integral component of membrane copper ion transmembrane transport recycling endosome regulation of copper ion transmembrane transport uc004bgq.1 uc004bgq.2 uc004bgq.3 uc004bgq.4 uc004bgq.5 
ENST00000259396.9 ORM1 ENST00000259396.9 Homo sapiens orosomucoid 1 (ORM1), mRNA. (from RefSeq NM_000607) A1AG1_HUMAN AGP1 B7ZKQ5 ENST00000259396.1 ENST00000259396.2 ENST00000259396.3 ENST00000259396.4 ENST00000259396.5 ENST00000259396.6 ENST00000259396.7 ENST00000259396.8 NM_000607 P02763 Q5T539 Q5U067 Q8TC16 uc004bik.1 uc004bik.2 uc004bik.3 uc004bik.4 uc004bik.5 uc004bik.6 This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BU930416.1, BG616847.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Functions as transport protein in the blood stream. Binds various ligands in the interior of its beta-barrel domain. Also binds synthetic drugs and influences their distribution and availability in the body. Appears to function in modulating the activity of the immune system during the acute-phase reaction. P05121:SERPINE1; NbExp=4; IntAct=EBI-976767, EBI-953978; Secreted. Expressed by the liver and secreted in plasma. Synthesis is controlled by glucocorticoids, interleukin-1 and interleukin-6, It increases 5- to 50-fold upon inflammation. Contains a beta-barrel that binds various ligands in its interior. N-glycosylated. N-glycan heterogeneity at Asn-33: Hex5HexNAc4 (minor), Hex6HexNAc5 (major) and dHex1Hex6HexNAc5 (minor). Three common alleles of ORM1 are known. ORM1*F1 has Gln-38/Val-174; ORM1*F2 has Gln-38/Met-174 and ORM1*S has Arg- 38/Val-174. The sequence shown is that of allele ORM1*F1. Belongs to the calycin superfamily. Lipocalin family. Sequence=CAA29229.1; Type=Erroneous gene model prediction; platelet degranulation regulation of immune system process protein binding extracellular region extracellular space acute-phase response inflammatory response platelet alpha granule lumen negative regulation of interleukin-6 production negative regulation of tumor necrosis factor production specific granule lumen neutrophil degranulation positive regulation of interleukin-1 secretion positive regulation of interleukin-1 beta secretion extracellular exosome blood microparticle positive regulation of tumor necrosis factor secretion tertiary granule lumen uc004bik.1 uc004bik.2 uc004bik.3 uc004bik.4 uc004bik.5 uc004bik.6 
ENST00000259400.11 STX17 ENST00000259400.11 Homo sapiens syntaxin 17 (STX17), mRNA. (from RefSeq NM_017919) ENST00000259400.1 ENST00000259400.10 ENST00000259400.2 ENST00000259400.3 ENST00000259400.4 ENST00000259400.5 ENST00000259400.6 ENST00000259400.7 ENST00000259400.8 ENST00000259400.9 NM_017919 P56962 Q4VXC2 STX17_HUMAN uc004bal.1 uc004bal.2 uc004bal.3 uc004bal.4 uc004bal.5 uc004bal.6 Implicated in vesicle trafficking to lysosomes. Could be involved in processes related to cell division (By similarity). Membrane; Single-pass type IV membrane protein (By similarity). Note=Appears to be associated with a membrane compartment, perhaps a subset of the ER such as exit or entrance sites (By similarity). Belongs to the syntaxin family. Contains 1 t-SNARE coiled-coil homology domain. SNARE binding autophagosome membrane SNAP receptor activity protein binding cytoplasm mitochondrion autophagosome endoplasmic reticulum endoplasmic reticulum membrane endoplasmic reticulum-Golgi intermediate compartment cytosol intracellular protein transport ER to Golgi vesicle-mediated transport vesicle fusion autophagy Golgi organization endomembrane system ER to Golgi transport vesicle membrane membrane integral component of membrane vesicle-mediated transport autophagosome docking protein kinase binding protein phosphatase binding ER to Golgi transport vesicle smooth endoplasmic reticulum membrane SNARE complex cytoplasmic vesicle endoplasmic reticulum-Golgi intermediate compartment membrane protein localization to pre-autophagosomal structure ER-mitochondrion membrane contact site vesicle docking endoplasmic reticulum-Golgi intermediate compartment organization autophagosome maturation HOPS complex lysosomal membrane rough endoplasmic reticulum uc004bal.1 uc004bal.2 uc004bal.3 uc004bal.4 uc004bal.5 uc004bal.6 
ENST00000259407.7 BAAT ENST00000259407.7 Homo sapiens bile acid-CoA:amino acid N-acyltransferase (BAAT), transcript variant 1, mRNA. (from RefSeq NM_001701) BAAT_HUMAN ENST00000259407.1 ENST00000259407.2 ENST00000259407.3 ENST00000259407.4 ENST00000259407.5 ENST00000259407.6 NM_001701 Q14032 Q3B7W9 Q96L31 uc010mtd.1 uc010mtd.2 uc010mtd.3 uc010mtd.4 The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acids from the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bile acid-amino acid conjugates. The bile acid conjugates then act as a detergent in the gastrointestinal tract, which enhances lipid and fat-soluble vitamin absorption. Defects in this gene are a cause of familial hypercholanemia (FHCA). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. Involved in bile acid metabolism. In liver hepatocytes catalyzes the second step in the conjugation of C24 bile acids (choloneates) to glycine and taurine before excretion into bile canaliculi. The major components of bile are cholic acid and chenodeoxycholic acid. In a first step the bile acids are converted to an acyl-CoA thioester, either in peroxisomes (primary bile acids deriving from the cholesterol pathway), or cytoplasmic at the endoplasmic reticulum (secondary bile acids). May catalyze the conjugation of primary or secondary bile acids, or both. The conjugation increases the detergent properties of bile acids in the intestine, which facilitates lipid and fat-soluble vitamin absorption. In turn, bile acids are deconjugated by bacteria in the intestine and are recycled back to the liver for reconjugation (secondary bile acids). May also act as an acyl-CoA thioesterase that regulates intracellular levels of free fatty acids. In vitro, catalyzes the hydrolysis of long- and very long-chain saturated acyl-CoAs to the free fatty acid and coenzyme A (CoASH), and conjugates glycine to these acyl-CoAs. Choloyl-CoA + glycine = CoA + glycocholate. Palmitoyl-CoA + H(2)O = CoA + palmitate. Kinetic parameters: KM=1.1 mM for taurine toward choloyl-CoA; KM=2.2 mM for 2-fluoro-beta-alanine toward choloyl-CoA; KM=5.8 mM for glycine toward choloyl-CoA; KM=19.3 uM for arachidoyl-CoA; Vmax=0.33 umol/min/mg enzyme with taurine as substrate for acyltransferase activity; Vmax=0.19 umol/min/mg enzyme with 2-fluoro-beta-alanine as substrate for acyltransferase activity; Vmax=0.77 umol/min/mg enzyme with glycine as substrate for acyltransferase activity; Vmax=223 nmol/min/mg enzyme with arachidoyl-CoA as substrate for acyl-CoA thioesterase activity; Monomer. Cytoplasm. Expressed in liver, gallbladder mucosa and pancreas. Defects in BAAT are involved in familial hypercholanemia (FHCA) [MIM:607748]. FHCA is a disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. In human, more than 95% of the biliary bile acids are N-acyl amidates with glycine and taurine. In other mammalian species large differences are observed in the relative amounts of taurine- and glycine-conjugated bile acids formed in bile. Belongs to the C/M/P thioester hydrolase family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BAAT"; liver development bile acid conjugation protein binding cytoplasm peroxisome peroxisomal matrix cytosol glycine metabolic process protein targeting to peroxisome lipid metabolic process fatty acid metabolic process acyl-CoA metabolic process bile acid biosynthetic process bile acid metabolic process palmitoyl-CoA hydrolase activity N-acyltransferase activity transferase activity transferase activity, transferring acyl groups hydrolase activity thiolester hydrolase activity taurine metabolic process animal organ regeneration choloyl-CoA hydrolase activity acyl-CoA hydrolase activity glycine N-choloyltransferase activity carboxylic ester hydrolase activity medium-chain acyl-CoA hydrolase activity long-chain acyl-CoA hydrolase activity very long chain acyl-CoA hydrolase activity uc010mtd.1 uc010mtd.2 uc010mtd.3 uc010mtd.4 
ENST00000259455.4 GABBR2 ENST00000259455.4 Homo sapiens gamma-aminobutyric acid type B receptor subunit 2 (GABBR2), mRNA. (from RefSeq NM_005458) ENST00000259455.1 ENST00000259455.2 ENST00000259455.3 GABR2_HUMAN GPR51 GPRC3B NM_005458 O75899 O75974 O75975 Q5VXZ2 Q8WX04 Q9P1R2 Q9UNR1 Q9UNS9 uc004ays.1 uc004ays.2 uc004ays.3 uc004ays.4 uc004ays.5 uc004ays.6 The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence.[provided by RefSeq, Jan 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF056085.1, AF095784.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1966682, SAMEA1968540 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000259455.4/ ENSP00000259455.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Receptor for GABA. The activity of this receptor is mediated by G-proteins that inhibit adenylyl cyclase activity, stimulates phospholipase A2, activates potassium channels, inactivates voltage-dependent calcium-channels and modulates inositol phospholipids hydrolysis. Plays a critical role in the fine-tuning of inhibitory synaptic transmission. Pre-synaptic GABA-B-R inhibit neurotransmitter release by down-regulating high- voltage activated calcium channels, whereas postsynaptic GABA-B-R decrease neuronal excitability by activating a prominent inwardly rectifying potassium (Kir) conductance that underlies the late inhibitory postsynaptic potentials. Not only implicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle relaxation and antinociception. Heterodimer of GABA-B-R1 and GABA-B-R2. Neither of which is effective on its own and homodimeric assembly does not seem to happen. Interacts with ATF4 via its C-terminal region. Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Note=Moreover coexpression of GABA-B-R1 and GABA-B-R2 appears to be a prerequisite for maturation and transport of GABA-B-R1 to the plasma membrane. Highly expressed in brain, especially in cerebral cortex, thalamus, hippocampus, frontal, occipital and temporal lobe, occipital pole and cerebellum, followed by corpus callosum, caudate nucleus, spinal cord, amygdala and medulla. Weakly expressed in heart, testis and skeletal muscle. Alpha-helical parts of the C-terminal intracellular region mediate heterodimeric interaction with GABA-B receptor 1. Belongs to the G-protein coupled receptor 3 family. GABA-B receptor subfamily. Sequence=AAH35071.2; Type=Erroneous initiation; G-protein coupled receptor activity G-protein coupled GABA receptor activity protein binding cytoplasm plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway negative regulation of adenylate cyclase activity gamma-aminobutyric acid signaling pathway chemical synaptic transmission membrane integral component of membrane cell junction G-protein coupled receptor heterodimeric complex neuron projection synapse postsynaptic membrane protein heterodimerization activity GABA receptor complex uc004ays.1 uc004ays.2 uc004ays.3 uc004ays.4 uc004ays.5 uc004ays.6 
ENST00000259456.7 HEMGN ENST00000259456.7 Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA. (from RefSeq NM_018437) EDAG ENST00000259456.1 ENST00000259456.2 ENST00000259456.3 ENST00000259456.4 ENST00000259456.5 ENST00000259456.6 HEMGN_HUMAN NDR NM_018437 PRO1037 PRO1620 Q6XAR3 Q86XY5 Q9BXL5 Q9NPC0 uc004axz.1 uc004axz.2 uc004axz.3 uc004axz.4 uc004axz.5 Regulates the proliferation and differentiation of hematopoietic cells. Overexpression block the TPA-induced megakaryocytic differentiation in the K562 cell model. May also prevent cell apoptosis through the activation of the nuclear factor-kappa B (NF-kB). Q13363:CTBP1; NbExp=2; IntAct=EBI-3916399, EBI-908846; Nucleus. Expressed in hematopoietic precursor cells (at protein level). Detected in CD34+ and K-562 leukemia cell lines (at protein level). Expressed in bone marrow, testis, thymus. Also expressed in thymus and thyroid tumors, non-Hodgkin lymphoma, various leukemia cell lines, peripheral blood mononuclear cells (PBMCs) and bone marrow mononuclear cells (BMMCs) of patients with leukemia. Expressed in fetal liver, kidney and brain. Down-regulated during megakaryocytic differentiation of K562 cells by 12-O-tetradecanoylphorbol-13-acetate (TPA) (at protein level). Up-regulated in normal PBMCs by mitogens. Sequence=AAF67133.1; Type=Erroneous initiation; Sequence=AAF71041.1; Type=Erroneous initiation; Sequence=AAG35488.1; Type=Erroneous initiation; protein binding nucleus nucleoplasm multicellular organism development cell differentiation regulation of osteoblast differentiation uc004axz.1 uc004axz.2 uc004axz.3 uc004axz.4 uc004axz.5 
ENST00000259457.8 PSMB7 ENST00000259457.8 Homo sapiens proteasome 20S subunit beta 7 (PSMB7), mRNA. (from RefSeq NM_002799) ENST00000259457.1 ENST00000259457.2 ENST00000259457.3 ENST00000259457.4 ENST00000259457.5 ENST00000259457.6 ENST00000259457.7 NM_002799 PSB7_HUMAN Q5TBG6 Q96AG8 Q99436 Q9BWA7 Z uc004boj.1 uc004boj.2 uc004boj.3 uc004boj.4 uc004boj.5 uc004boj.6 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. The encoded protein is a member of the proteasome B-type family, also known as the T1B family, and is a 20S core beta subunit in the proteasome. Expression of this catalytic subunit is downregulated by gamma interferon, and proteolytic processing is required to generate a mature subunit. A pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Jul 2012]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: GU727627.1, SRR5189652.206633.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2157437, SAMEA2467146 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000259457.8/ ENSP00000259457.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This unit is responsible of the trypsin-like 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. This subunit can be displaced by the equivalent immune-specific subunit PSMB10. Interacts with HIV- 1 TAT protein. P20618:PSMB1; NbExp=6; IntAct=EBI-603319, EBI-372273; P28074:PSMB5; NbExp=6; IntAct=EBI-603319, EBI-357828; P28065:PSMB9; NbExp=5; IntAct=EBI-603319, EBI-603300; Cytoplasm. Nucleus. Expressed at a low level in colonic mucosa. Up-regulated in colorectal cancer tissues. Belongs to the peptidase T1B family. MAPK cascade protein polyubiquitination proteasome complex stimulatory C-type lectin receptor signaling pathway antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent endopeptidase activity threonine-type endopeptidase activity protein binding extracellular region nucleus nucleoplasm cytoplasm cytosol proteasome core complex proteolysis 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, beta-subunit complex anaphase-promoting complex-dependent catabolic process SCF-dependent proteasomal ubiquitin-dependent protein catabolic process tumor necrosis factor-mediated signaling pathway secretory granule lumen NIK/NF-kappaB signaling Fc-epsilon receptor signaling pathway proteasome-mediated ubiquitin-dependent protein catabolic process neutrophil degranulation regulation of mRNA stability post-translational protein modification T cell receptor signaling pathway proteolysis involved in cellular protein catabolic process transmembrane transport Wnt signaling pathway, planar cell polarity pathway regulation of transcription from RNA polymerase II promoter in response to hypoxia interleukin-1-mediated signaling pathway negative regulation of canonical Wnt signaling pathway positive regulation of canonical Wnt signaling pathway regulation of mitotic cell cycle phase transition regulation of hematopoietic stem cell differentiation ficolin-1-rich granule lumen uc004boj.1 uc004boj.2 uc004boj.3 uc004boj.4 uc004boj.5 uc004boj.6 
ENST00000259466.1 OR1L4 ENST00000259466.1 Homo sapiens olfactory receptor family 1 subfamily L member 4 (OR1L4), mRNA. (from RefSeq NM_001005235) NM_001005235 OR1L4_HUMAN OR1L5 Q6IFN0 Q8NGR5 Q96R81 uc004bmu.1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000259466.1/ ENSP00000259466.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Odorant receptor (Potential). Cell membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor 1 family. Name=Human Olfactory Receptor Data Exploratorium (HORDE); URL="http://bip.weizmann.ac.il/cgi-bin/HORDE/showGene.pl?key=symbol&value=OR1L4"; G-protein coupled receptor activity olfactory receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway sensory perception of smell membrane integral component of membrane response to stimulus detection of chemical stimulus involved in sensory perception of smell uc004bmu.1 
ENST00000259467.9 PDCL ENST00000259467.9 Homo sapiens phosducin like (PDCL), mRNA. (from RefSeq NM_005388) ENST00000259467.1 ENST00000259467.2 ENST00000259467.3 ENST00000259467.4 ENST00000259467.5 ENST00000259467.6 ENST00000259467.7 ENST00000259467.8 NM_005388 PHLP_HUMAN Q13371 Q4VXB6 Q96AF1 Q9UEW7 Q9UFL0 uc004bmz.1 uc004bmz.2 uc004bmz.3 uc004bmz.4 Phosducin-like protein is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin, a phosphoprotein expressed in retina and pineal gland. Both phosducin-like protein and phosphoducin have been shown to regulate G-protein signaling by binding to the beta-gamma subunits of G 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 :: SRR1660809.86814.1, SRR7410570.437364.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2467144, SAMEA2467146 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000259467.9/ ENSP00000259467.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Forms a complex with the beta and gamma subunits of the GTP-binding protein, transducin. Belongs to the phosducin family. protein binding cytoplasm cytosol cilium protein folding signal transduction visual perception regulation of G-protein coupled receptor protein signaling pathway cell projection organization cell projection macromolecular complex binding positive regulation of smoothened signaling pathway response to stimulus negative regulation of protein refolding heterotrimeric G-protein complex assembly uc004bmz.1 uc004bmz.2 uc004bmz.3 uc004bmz.4 
ENST00000259512.9 DERL1 ENST00000259512.9 Homo sapiens derlin 1 (DERL1), transcript variant 1, mRNA. (from RefSeq NM_024295) B3KW41 DER1 DERL1_HUMAN E9PH19 ENST00000259512.1 ENST00000259512.2 ENST00000259512.3 ENST00000259512.4 ENST00000259512.5 ENST00000259512.6 ENST00000259512.7 ENST00000259512.8 NM_024295 Q9BUN8 UNQ243/PRO276 uc003ypl.1 uc003ypl.2 uc003ypl.3 uc003ypl.4 The protein encoded by this gene is a member of the derlin family. Members of this family participate in the ER-associated degradation response and retrotranslocate misfolded or unfolded proteins from the ER lumen to the cytosol for proteasomal degradation. This protein recognizes substrate in the ER and works in a complex to retrotranslocate it across the ER membrane into the cytosol. This protein may select cystic fibrosis transmembrane conductance regulator protein (CFTR) for degradation as well as unfolded proteins in Alzheimer's disease. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 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 :: SRR1803613.95145.1, SRR1660809.180544.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000259512.9/ ENSP00000259512.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins. May act by forming a channel that allows the retrotranslocation of misfolded proteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the degradation substrate. In case of infection by cytomegaloviruses, it plays a central role in the export from the ER and subsequent degradation of MHC class I heavy chains via its interaction with US11 viral protein, which recognizes and associates with MHC class I heavy chains. Also participates in the degradation process of misfolded cytomegalovirus US2 protein. Forms homo- and heterooligomers with DERL2 and DERL3; binding to DERL3 is poorer than that between DERL2 and DERL3. Interacts with AMFR, VIMP/SELS, SEL1L, SYVN1 and VCP, as well as with SEL1L-SYVN1 and VCP-VIMP protein complexes; this interaction is weaker than that observed between DERL2 and these complexes. Interacts with the cytomegalovirus US11 protein. Interacts with NGLY1 and YOD1. Does not bind to EDEM1. Interacts with RNF103. P51572:BCAP31; NbExp=3; IntAct=EBI-398977, EBI-77683; P13569:CFTR; NbExp=2; IntAct=EBI-398977, EBI-349854; Endoplasmic reticulum membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BUN8-1; Sequence=Displayed; Name=2; IsoId=Q9BUN8-2; Sequence=VSP_041329; Ubiquitous. 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. Hrd1p ubiquitin ligase ERAD-L complex protease binding protein binding early endosome late endosome endoplasmic reticulum endoplasmic reticulum membrane protein folding response to unfolded protein protein transport membrane integral component of membrane viral process protein ubiquitination integral component of endoplasmic reticulum membrane ER-associated ubiquitin-dependent protein catabolic process endoplasmic reticulum unfolded protein response retrograde protein transport, ER to cytosol positive regulation of protein ubiquitination ubiquitin protein ligase binding protein destabilization positive regulation of protein binding cellular response to unfolded protein Derlin-1-VIMP complex ERAD pathway Derlin-1 retrotranslocation complex signaling receptor activity MHC class I protein binding identical protein binding proteasome-mediated ubiquitin-dependent protein catabolic process establishment of protein localization ATPase binding misfolded protein binding transmembrane transport ER-associated misfolded protein catabolic process ubiquitin-specific protease binding signal recognition particle receptor complex signal recognition particle uc003ypl.1 uc003ypl.2 uc003ypl.3 uc003ypl.4 
ENST00000259526.4 CCN3 ENST00000259526.4 Homo sapiens cellular communication network factor 3 (CCN3), mRNA. (from RefSeq NM_002514) B2R5X7 ENST00000259526.1 ENST00000259526.2 ENST00000259526.3 IGFBP9 NM_002514 NOV NOVH NOV_HUMAN P48745 Q6I9S3 Q96BY5 Q9UDE4 uc003yoq.1 uc003yoq.2 uc003yoq.3 uc003yoq.4 The protein encoded by this gene is a small secreted cysteine-rich protein and a member of the CCN family of regulatory proteins. CNN family proteins associate with the extracellular matrix and play an important role in cardiovascular and skeletal development, fibrosis and cancer development. [provided by RefSeq, Feb 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.264775.1, SRR1660803.147809.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000259526.4/ ENSP00000259526.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Immediate-early protein likely to play a role in cell growth regulation (By similarity). Interacts with FBLN1. Secreted. Expressed in bone marrow, thymic cells and nephroblastoma. Increased expression in Wilms tumor of the stromal type. Expression is down-regulated by WT1. Belongs to the CCN family. Contains 1 CTCK (C-terminal cystine knot-like) domain. Contains 1 IGFBP N-terminal domain. Contains 1 TSP type-1 domain. Contains 1 VWFC domain. angiogenesis chondrocyte differentiation Notch binding integrin binding protein binding insulin-like growth factor binding extracellular region cytoplasm gap junction cell adhesion signal transduction growth factor activity heparin binding regulation of gene expression fibroblast migration negative regulation of myotube differentiation smooth muscle cell migration cell junction negative regulation of cell growth axon dendrite extracellular matrix cell adhesion mediated by integrin endothelial cell chemotaxis neuronal cell body intracellular membrane-bounded organelle type B pancreatic cell proliferation positive regulation of Notch signaling pathway negative regulation of insulin secretion smooth muscle cell proliferation negative regulation of inflammatory response cell chemotaxis negative regulation of SMAD protein import into nucleus negative regulation of cell death hematopoietic stem cell homeostasis endothelial cell-cell adhesion negative regulation of monocyte chemotaxis negative regulation of NIK/NF-kappaB signaling negative regulation of chondrocyte proliferation negative regulation of sensory perception of pain bone regeneration uc003yoq.1 uc003yoq.2 uc003yoq.3 uc003yoq.4 
ENST00000259569.6 RANBP6 ENST00000259569.6 Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA. (from RefSeq NM_012416) ENST00000259569.1 ENST00000259569.2 ENST00000259569.3 ENST00000259569.4 ENST00000259569.5 NM_012416 O60518 Q5T7X4 Q7Z3V2 Q96E78 RNBP6_HUMAN uc003zjr.1 uc003zjr.2 uc003zjr.3 uc003zjr.4 uc003zjr.5 May function in nuclear protein import as nuclear transport receptor. Q76353:- (xeno); NbExp=2; IntAct=EBI-1055771, EBI-6248077; Cytoplasm (By similarity). Nucleus (By similarity). Belongs to the importin beta family. Contains 7 HEAT repeats. Sequence=CAD97647.1; Type=Erroneous initiation; protein binding nucleus cytoplasm protein import into nucleus nuclear localization sequence binding protein transport nuclear import signal receptor activity uc003zjr.1 uc003zjr.2 uc003zjr.3 uc003zjr.4 uc003zjr.5 
ENST00000259607.7 CCL21 ENST00000259607.7 Homo sapiens C-C motif chemokine ligand 21 (CCL21), mRNA. (from RefSeq NM_002989) CCL21_HUMAN ENST00000259607.1 ENST00000259607.2 ENST00000259607.3 ENST00000259607.4 ENST00000259607.5 ENST00000259607.6 NM_002989 O00585 SCYA21 UNQ784/PRO1600 uc003zvo.1 uc003zvo.2 uc003zvo.3 uc003zvo.4 uc003zvo.5 uc003zvo.6 This antimicrobial gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. Similar to other chemokines the protein encoded by this gene inhibits hemopoiesis and stimulates chemotaxis. This protein is chemotactic in vitro for thymocytes and activated T cells, but not for B cells, macrophages, or neutrophils. The cytokine encoded by this gene may also play a role in mediating homing of lymphocytes to secondary lymphoid organs. It is a high affinity functional ligand for chemokine receptor 7 that is expressed on T and B lymphocytes and a known receptor for another member of the cytokine family (small inducible cytokine A19). [provided by RefSeq, Sep 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189655.188399.1, SRR5189667.380449.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000259607.7/ ENSP00000259607.2 Protein has antimicrobial activity :: PMID: 12949249 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Inhibits hemopoiesis and stimulates chemotaxis. Chemotactic in vitro for thymocytes and activated T-cells, but not for B-cells, macrophages, or neutrophils. Shows preferential activity towards naive T-cells. May play a role in mediating homing of lymphocytes to secondary lymphoid organs. Monomer. Binds to CCR7. Secreted. Highly expressed in high endothelial venules of lymph nodes, spleen and appendix. Intermediate levels found in small intestine, thyroid gland and trachea. Low level expression in thymus, bone marrow, liver, and pancreas. Also found in tonsil, fetal heart and fetal spleen. Belongs to the intercrine beta (chemokine CC) family. Name=Wikipedia; Note=CCL21 entry; URL="http://en.wikipedia.org/wiki/CCL21"; establishment of T cell polarity immunological synapse formation positive regulation of cell-matrix adhesion dendritic cell chemotaxis monocyte chemotaxis positive regulation of dendritic cell antigen processing and presentation cytokine activity protein binding extracellular region extracellular space cell chemotaxis inflammatory response immune response G-protein coupled receptor signaling pathway cell-cell signaling chemokine activity positive regulation of glycoprotein biosynthetic process positive regulation of T cell chemotaxis neutrophil chemotaxis positive regulation of actin filament polymerization positive regulation of pseudopodium assembly T cell costimulation ruffle organization killing of cells of other organism CCR7 chemokine receptor binding positive regulation of cell adhesion mediated by integrin response to prostaglandin E mesangial cell-matrix adhesion chemokine (C-C motif) ligand 21 signaling pathway chemokine receptor binding positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of GTPase activity positive regulation of phosphatidylinositol 3-kinase activity positive regulation of protein kinase activity positive regulation of JNK cascade CCR chemokine receptor binding lymphocyte chemotaxis positive regulation of receptor-mediated endocytosis cell maturation positive regulation of chemotaxis release of sequestered calcium ion into cytosol positive regulation of filopodium assembly positive regulation of protein kinase B signaling cell chemotaxis chemokine-mediated signaling pathway positive regulation of ERK1 and ERK2 cascade cellular response to interferon-gamma cellular response to interleukin-1 cellular response to tumor necrosis factor positive regulation of neutrophil chemotaxis activation of GTPase activity dendritic cell dendrite assembly negative regulation of leukocyte tethering or rolling cellular response to chemokine positive regulation of cell motility positive regulation of T cell migration positive regulation of myeloid dendritic cell chemotaxis negative regulation of dendritic cell dendrite assembly negative regulation of dendritic cell apoptotic process uc003zvo.1 uc003zvo.2 uc003zvo.3 uc003zvo.4 uc003zvo.5 uc003zvo.6 
ENST00000259608.8 SIT1 ENST00000259608.8 Homo sapiens signaling threshold regulating transmembrane adaptor 1 (SIT1), mRNA. (from RefSeq NM_014450) B2RBP9 ENST00000259608.1 ENST00000259608.2 ENST00000259608.3 ENST00000259608.4 ENST00000259608.5 ENST00000259608.6 ENST00000259608.7 NM_014450 Q9Y3P8 SIT SIT1_HUMAN uc003zxe.1 uc003zxe.2 uc003zxe.3 uc003zxe.4 Negatively regulates TCR (T-cell antigen receptor)- mediated signaling in T-cells. Involved in positive selection of T-cells. Homodimer; disulfide-linked. When phosphorylated, interacts with PTPN11/SHP2, GRB2 and CSK. Cell membrane; Single-pass type I membrane protein. Specifically expressed in T- and B-cells. Present in plasma cells but not in germinal center B-cells (at protein level). Expressed in T- and B-cell lymphoma. Phosphorylated on tyrosines by LCK, FYN or ZAP70 upon TCR activation; which leads to the recruitment of PTPN11, GRB2 and CSK. In contrast to its orthologs it harbors a signal sequence. adaptive immune response immune system process protein binding plasma membrane integral component of plasma membrane signal transduction membrane integral component of membrane kinase binding SH2 domain binding T cell homeostasis regulation of T cell activation extracellular exosome uc003zxe.1 uc003zxe.2 uc003zxe.3 uc003zxe.4 
ENST00000259631.5 CCL27 ENST00000259631.5 Homo sapiens C-C motif chemokine ligand 27 (CCL27), mRNA. (from RefSeq NM_006664) CCL27_HUMAN ENST00000259631.1 ENST00000259631.2 ENST00000259631.3 ENST00000259631.4 ILC NM_006664 Q9Y4X3 SCYA27 uc003zvm.1 uc003zvm.2 This gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The protein encoded by this gene is chemotactic for skin-associated memory T lymphocytes. This cytokine may also play a role in mediating homing of lymphocytes to cutaneous sites. It specifically binds to chemokine receptor 10 (CCR10). Studies of a similar murine protein indicate that these protein-receptor interactions have a pivotal role in T cell-mediated skin inflammation. [provided by RefSeq, Sep 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AJ243542.1, AB010445.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145893 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000259631.5/ ENSP00000259631.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Chemotactic factor that attracts skin-associated memory T-lymphocytes. May play a role in mediating homing of lymphocytes to cutaneous sites. Binds to CCR10. Monomer, dimer, and tetramer. Heparin avidly promotes oligomerization. Secreted. Testis, thymus, placenta, ovary and skin. Belongs to the intercrine beta (chemokine CC) family. Name=Wikipedia; Note=CCL27 entry; URL="http://en.wikipedia.org/wiki/CCL27"; cytokine activity protein binding extracellular region extracellular space chemotaxis immune response G-protein coupled receptor signaling pathway cell-cell signaling chemokine activity positive regulation of T cell chemotaxis killing of cells of other organism CCR3 chemokine receptor binding cell chemotaxis positive regulation of mononuclear cell migration positive regulation of actin cytoskeleton reorganization uc003zvm.1 uc003zvm.2 
ENST00000259632.12 DCTN3 ENST00000259632.12 Homo sapiens dynactin subunit 3 (DCTN3), transcript variant 1, mRNA. (from RefSeq NM_007234) A6NII7 B2RBM5 DCTN22 DCTN3_HUMAN ENST00000259632.1 ENST00000259632.10 ENST00000259632.11 ENST00000259632.2 ENST00000259632.3 ENST00000259632.4 ENST00000259632.5 ENST00000259632.6 ENST00000259632.7 ENST00000259632.8 ENST00000259632.9 NM_007234 O75935 Q5T1I5 Q5T1I7 Q5T8G3 Q9BPU8 uc003zux.1 uc003zux.2 uc003zux.3 uc003zux.4 This gene encodes the smallest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, cytokinesis, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like most other dynactin subunits, exists only as a part of the dynactin complex. It is primarily an alpha-helical protein with very little coiled coil, and binds directly to the largest subunit (p150) of dynactin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. Together with dynein may be involved in spindle assembly and cytokinesis. Subunit of dynactin, a multiprotein complex associated with dynein. P40425:PBX2; NbExp=1; IntAct=EBI-347442, EBI-348489; Cytoplasm. Cytoplasm, cytoskeleton, centrosome. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. Cleavage furrow. Midbody. Note=Localizes to punctate cytoplasmic structures and to the centrosome during interphase, and to kinetochores and to spindle poles throughout mitosis. Colocalizes with dynein to the cleavage furrow and to midbody of dividing cells. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O75935-1; Sequence=Displayed; Name=2; IsoId=O75935-2; Sequence=VSP_051964; Note=No experimental confirmation available; Name=3; IsoId=O75935-3; Sequence=VSP_051961; Note=No experimental confirmation available; Ubiquitously expressed. Highly expressed in muscle and pancreas and detected at lower levels in brain. Belongs to the dynactin subunit 3 family. Sequence=CAI13144.1; Type=Erroneous initiation; Sequence=CAI14178.1; Type=Erroneous gene model prediction; Sequence=CAI14180.1; Type=Erroneous initiation; G2/M transition of mitotic cell cycle mitotic cell cycle chromosome, centromeric region kinetochore condensed chromosome kinetochore structural molecule activity protein binding chromosome nucleolus cytoplasm centrosome microtubule organizing center spindle cytosol cytoskeleton dynactin complex microtubule microtubule associated complex ER to Golgi vesicle-mediated transport microtubule-based process cell cycle regulation of G2/M transition of mitotic cell cycle antigen processing and presentation of exogenous peptide antigen via MHC class II midbody cleavage furrow perinuclear region of cytoplasm cell division cytoskeleton-dependent cytokinesis ciliary basal body docking uc003zux.1 uc003zux.2 uc003zux.3 uc003zux.4 
ENST00000259633.9 CD72 ENST00000259633.9 Homo sapiens CD72 molecule (CD72), mRNA. (from RefSeq NM_001782) ENST00000259633.1 ENST00000259633.2 ENST00000259633.3 ENST00000259633.4 ENST00000259633.5 ENST00000259633.6 ENST00000259633.7 ENST00000259633.8 NM_001782 Q5TLG3 Q5TLG3_HUMAN RP11-331F9.9-001 hCG_2011491 uc003zxb.1 uc003zxb.2 uc003zxb.3 transmembrane signaling receptor activity integral component of plasma membrane membrane integral component of membrane uc003zxb.1 uc003zxb.2 uc003zxb.3 
ENST00000259667.6 HINT2 ENST00000259667.6 Homo sapiens histidine triad nucleotide binding protein 2 (HINT2), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_032593) ENST00000259667.1 ENST00000259667.2 ENST00000259667.3 ENST00000259667.4 ENST00000259667.5 HINT2_HUMAN NM_032593 Q5TCW3 Q9BX68 uc003zyh.1 uc003zyh.2 uc003zyh.3 uc003zyh.4 uc003zyh.5 Histidine triad proteins, such as HINT2, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[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 :: SRR1163657.327484.1, DN994618.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1968189 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000259667.6/ ENSP00000259667.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Hydrolase probably involved in steroid biosynthesis. May play a role in apoptosis. Has adenosine phosphoramidase activity. Kinetic parameters: KM=128 uM for adenosine 5'-O-p-nitrophenylphosphoramidate; Mitochondrion. High expression in liver and pancreas. Expression is significantly down-regulated in hepatocellular carcinoma (HCC) patients. The histidine triad, also called HIT motif, forms part of the binding loop for the alpha-phosphate of purine mononucleotide. Belongs to the HINT family. Contains 1 HIT domain. nucleotide binding catalytic activity nucleolus mitochondrion lipid metabolic process steroid biosynthetic process apoptotic process lipid catabolic process hydrolase activity negative regulation of peptidyl-lysine acetylation uc003zyh.1 uc003zyh.2 uc003zyh.3 uc003zyh.4 uc003zyh.5 
ENST00000259711.11 KIF13A ENST00000259711.11 Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA. (from RefSeq NM_022113) A0JP21 A0JP22 ENST00000259711.1 ENST00000259711.10 ENST00000259711.2 ENST00000259711.3 ENST00000259711.4 ENST00000259711.5 ENST00000259711.6 ENST00000259711.7 ENST00000259711.8 ENST00000259711.9 KI13A_HUMAN NM_022113 Q5THQ2 Q5THQ3 Q9H193 Q9H194 Q9H1H8 Q9H1H9 RBKIN uc003ncg.1 uc003ncg.2 uc003ncg.3 uc003ncg.4 uc003ncg.5 uc003ncg.6 This gene encodes a member of the kinesin family of microtubule-based motor proteins that function in the positioning of endosomes. This family member can direct mannose-6-phosphate receptor-containing vesicles from the trans-Golgi network to the plasma membrane, and it is necessary for the steady-state distribution of late endosomes/lysosomes. It is also required for the translocation of FYVE-CENT and TTC19 from the centrosome to the midbody during cytokinesis, and it plays a role in melanosome maturation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]. Plus end-directed microtubule-dependent motor protein involved in intracellular transport and regulating various processes such as mannose-6-phosphate receptor (M6PR) transport to the plasma membrane, endosomal sorting during melanosome biogenesis and cytokinesis. Mediates the transport of M6PR- containing vesicles from trans-Golgi network to the plasma membrane via direct interaction with the AP-1 complex. During melanosome maturation, required for delivering melanogenic enzymes from recycling endosomes to nascent melanosomes by creating peripheral recycling endosomal subdomains in melanocytes. Also required for the abcission step in cytokinesis: mediates translocation of ZFYVE26, and possibly TTC19, to the midbody during cytokinesis. Interacts with AP2B1 (By similarity). Interacts with ZFYVE26. Interacts with AP1G1 and AP1G2. Cytoplasm, cytoskeleton, centrosome. Midbody. Endosome membrane. Golgi apparatus membrane (By similarity). Note=Recruited to the midbody during cytokinesis. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=RBKIN1; IsoId=Q9H1H9-1; Sequence=Displayed; Name=2; Synonyms=RBKIN2; IsoId=Q9H1H9-2; Sequence=VSP_002870; Name=3; IsoId=Q9H1H9-3; Sequence=VSP_021724, VSP_002870, VSP_021725, VSP_021726; Name=4; IsoId=Q9H1H9-4; Sequence=VSP_021724, VSP_002870; Widely expressed, with highest levels in heart, brain and skeletal muscle. Expressed at very low level in most fetal tissues, but at higher levels in skeletal muscle and lung. Belongs to the kinesin-like protein family. Contains 1 FHA domain. Contains 1 kinesin-motor domain. Sequence=CAI21670.1; Type=Erroneous gene model prediction; Sequence=CAI21671.1; Type=Erroneous gene model prediction; Sequence=CAI40947.1; Type=Erroneous gene model prediction; Sequence=CAI40948.1; Type=Erroneous gene model prediction; Golgi membrane nucleotide binding microtubule motor activity protein binding ATP binding cytoplasm endosome Golgi apparatus centrosome microtubule organizing center cytoskeleton kinesin complex microtubule intracellular protein transport microtubule-based movement cell cycle microtubule binding endosome to lysosome transport endosome membrane protein transport membrane ATPase activity midbody melanosome organization regulation of cytokinesis trans-Golgi network membrane cargo loading into vesicle Golgi to plasma membrane protein transport cell division plus-end-directed vesicle transport along microtubule uc003ncg.1 uc003ncg.2 uc003ncg.3 uc003ncg.4 uc003ncg.5 uc003ncg.6 
ENST00000259726.6 CDSN ENST00000259726.6 Homo sapiens corneodesmosin (CDSN), mRNA. (from RefSeq NM_001264) B0S7V2 B0UYZ7 CDSN_HUMAN ENST00000259726.1 ENST00000259726.2 ENST00000259726.3 ENST00000259726.4 ENST00000259726.5 NM_001264 O43509 Q15517 Q5SQ85 Q5STD2 Q7LA70 Q7LA71 Q86Z04 Q8IZU4 Q8IZU5 Q8IZU6 Q8N5P3 Q95IF9 Q9NP52 Q9NPE0 Q9NPG5 Q9NRH4 Q9NRH5 Q9NRH6 Q9NRH7 Q9NRH8 Q9UBH8 Q9UIN6 Q9UIN7 Q9UIN8 Q9UIN9 Q9UIP0 uc302whq.1 This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. The encoded protein undergoes a series of cleavages during corneocyte maturation. This gene is highly polymorphic in human populations, and variation has been associated with skin diseases such as psoriasis, hypotrichosis and peeling skin syndrome. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6. [provided by RefSeq, Dec 2014]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data. 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 :: L20815.1, AK292636.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2145893 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000376288.3/ ENSP00000365465.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Important for the epidermal barrier integrity. Secreted. Note=Found in corneodesmosomes, the intercellular structures that are involved in desquamation. Exclusively expressed in skin. Genetic variation in CDSN may be associated with susceptibility to psoriasis [MIM:177900]. Various CDSN alleles are known including alleles 1.11, 1.21, 1.31, 1.32, 1.41, 1.42, 1.43, 1.51, 1.52, 2.11, 2.21, 2.22 and 2.23. Defects in CDSN are the cause of hypotrichosis type 2 (HYPT2) [MIM:146520]. A condition characterized by the presence of less than the normal amount of hair. Affected individuals have normal hair in early childhood but experience progressive hair loss limited to the scalp beginning in the middle of the first decade and almost complete baldness by the third decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Defects in CDSN are a cause of peeling skin syndrome (PSS) [MIM:270300]; also known as peeling skin syndrome or deciduous skin or keratolysis exfoliativa congenita. A genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non-inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. Note=CDNS mutations are responsible for generalized, inflammatory peeling skin syndrome type B (PubMed:20691404). Sequence=AAA21321.1; Type=Frameshift; Positions=501; Sequence=BAB63316.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC54948.1; Type=Erroneous initiation; Note=Translation N-terminally extended; cornified envelope corneocyte desquamation extracellular region plasma membrane cell-cell junction cell adhesion epidermis development desmosome keratinocyte differentiation protein homodimerization activity skin morphogenesis cornification cell-cell adhesion negative regulation of cornification uc302whq.1 
ENST00000259727.5 GMPR ENST00000259727.5 Homo sapiens guanosine monophosphate reductase (GMPR), mRNA. (from RefSeq NM_006877) ENST00000259727.1 ENST00000259727.2 ENST00000259727.3 ENST00000259727.4 GMPR1 GMPR1_HUMAN NM_006877 P36959 Q96HQ6 uc003nbs.1 uc003nbs.2 uc003nbs.3 uc003nbs.4 This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of GMP to IMP. The protein also functions in the re-utilization of free intracellular bases and purine nucleosides.[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 :: BC008281.1, SRR5189655.202506.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000259727.5/ ENSP00000259727.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Catalyzes the irreversible NADPH-dependent deamination of GMP to IMP. It functions in the conversion of nucleobase, nucleoside and nucleotide derivatives of G to A nucleotides, and in maintaining the intracellular balance of A and G nucleotides. Inosine 5'-phosphate + NH(3) + NADP(+) = guanosine 5'-phosphate + NADPH. Homotetramer. At least two different alleles are known. Belongs to the IMPDH/GMPR family. The N-terminus was initially (PubMed:2758468) thought to be fused with glucose-6-phosphate-dehydrogenase (G6PD) protein in vivo. However, PubMed:2570640 showed that it encodes a GMP reductase, and PubMed:1694726 showed that the chimeric protein is an artifact. catalytic activity GMP reductase activity cytosol purine nucleobase metabolic process purine nucleotide metabolic process nucleotide metabolic process response to cold purine ribonucleotide interconversion oxidoreductase activity purine-containing compound salvage metal ion binding oxidation-reduction process GMP reductase complex uc003nbs.1 uc003nbs.2 uc003nbs.3 uc003nbs.4 
ENST00000259746.13 TMEM63B ENST00000259746.13 Homo sapiens transmembrane protein 63B (TMEM63B), transcript variant 1, mRNA. (from RefSeq NM_001318792) B9EGU3 C6orf110 ENST00000259746.1 ENST00000259746.10 ENST00000259746.11 ENST00000259746.12 ENST00000259746.2 ENST00000259746.3 ENST00000259746.4 ENST00000259746.5 ENST00000259746.6 ENST00000259746.7 ENST00000259746.8 ENST00000259746.9 NM_001318792 Q5T3F8 Q5T3F9 Q6AHX4 Q6P5A0 Q8N219 Q8NDE1 Q9NSG5 TM63B_HUMAN uc063ovd.1 Q3TWI9:Tmem63b (xeno); NbExp=1; IntAct=EBI-2553509, EBI-2553501; Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q5T3F8-1; Sequence=Displayed; Name=2; IsoId=Q5T3F8-2; Sequence=VSP_023889, VSP_023890; Note=No experimental confirmation available; Name=3; IsoId=Q5T3F8-3; Sequence=VSP_023891, VSP_023892; Note=No experimental confirmation available; Belongs to the SPO75/TMEM63 family. Sequence=CAH10540.1; Type=Frameshift; Positions=647; Sequence=CAI20530.1; Type=Erroneous gene model prediction; calcium activated cation channel activity plasma membrane ion transport actin cytoskeleton membrane integral component of membrane ion transmembrane transport uc063ovd.1 
ENST00000259750.9 TTBK1 ENST00000259750.9 Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA. (from RefSeq NM_032538) A2A2U5 BDTK ENST00000259750.1 ENST00000259750.2 ENST00000259750.3 ENST00000259750.4 ENST00000259750.5 ENST00000259750.6 ENST00000259750.7 ENST00000259750.8 KIAA1855 NM_032538 Q2L6C6 Q5TCY1 Q6ZNH0 Q8N444 Q96JH2 TTBK1_HUMAN uc003ouq.1 uc003ouq.2 uc003ouq.3 This gene belongs to the casein kinase 1 superfamily. The encoded protein is a neuron-specific, serine/threonine and tyrosine kinase, which regulates phosphorylation of tau, a protein that associates with microtubule assemblies and stabilizes them. Genetic variants in this gene are associated with Alzheimer's disease. [provided by RefSeq, Jul 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB218664.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145743, SAMEA2154665 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000259750.9/ ENSP00000259750.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Serine/threonine kinase which is able to phosphorylate TAU on serine, threonine and tyrosine residues. Induces aggregation of TAU. ATP + a protein = ADP + a phosphoprotein. Divalent cations. Magnesium or, to a lesser extent, manganese, but not calcium or zinc. Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q5TCY1-1; Sequence=Displayed; Name=2; IsoId=Q5TCY1-2; Sequence=VSP_026497, VSP_026498, VSP_026499; Note=No experimental confirmation available; Expressed in the brain, particularly in cortical and hippocampal neurons. Weakly expressed in spinal cord and testis. No expression in adipose tissue, bladder, cervix, colon, esophagus, heart, kidney, liver, lung, ovary, placenta, prostate, skeletal muscle, small intestine, spleen, testis, thymus, thyroid or trachea. Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. Contains 1 protein kinase domain. It is uncertain whether Met-1 or Met-14 is the initiator. nucleotide binding protein kinase activity protein serine/threonine kinase activity protein tyrosine kinase activity ATP binding nucleus nucleoplasm cytoplasm cytosol microtubule associated complex protein phosphorylation learning or memory positive regulation of gene expression negative regulation of gene expression kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation peptidyl-threonine phosphorylation peptidyl-tyrosine phosphorylation substantia nigra development negative regulation of protein binding positive regulation of protein polymerization neuronal cell body tau protein binding perinuclear region of cytoplasm tau-protein kinase activity positive regulation of microglial cell activation positive regulation of cyclin-dependent protein kinase activity positive regulation of cysteine-type endopeptidase activity uc003ouq.1 uc003ouq.2 uc003ouq.3 
ENST00000259782.9 TINAG ENST00000259782.9 Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA. (from RefSeq NM_014464) ENST00000259782.1 ENST00000259782.2 ENST00000259782.3 ENST00000259782.4 ENST00000259782.5 ENST00000259782.6 ENST00000259782.7 ENST00000259782.8 NM_014464 Q5T467 Q9UJW1 Q9UJW2 Q9ULZ4 TINAG_HUMAN uc003pcj.1 uc003pcj.2 uc003pcj.3 uc003pcj.4 This gene encodes a glycoprotein that is restricted within the kidney to the basement membranes underlying the epithelium of Bowman's capsule and proximal and distal tubules. Autoantibodies against this protein are found in sera of patients with tubulointerstital nephritis, membranous nephropathy and anti-glomerular basement membrane nephritis. Ontogeny studies suggest that the expression of this antigen is developmentally regulated in a precise spatial and temporal pattern throughout nephrogenesis. [provided by RefSeq, Nov 2011]. ##Evidence-Data-START## Transcript exon combination :: AK312918.1, BC070278.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000259782.9/ ENSP00000259782.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Mediates adhesion of proximal tubule epithelial cells via integrins alpha3-beta1 and alphaV-beta3. This is a non catalytic peptidase C1 family protein. Secreted, extracellular space, extracellular matrix, basement membrane. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=TIN1; IsoId=Q9UJW2-1; Sequence=Displayed; Note=Major isoform; Name=2; Synonyms=TIN2; IsoId=Q9UJW2-2; Sequence=VSP_050567, VSP_050568; Expressed in the kidney cortex, small intestine and cornea. Initially observed in the Bowman capsule during early glomerular capillary loop formation in the kidney. In more developmentally mature glomeruli, following transition from early to mid-capillary loop stage, expression is higher in the proximal tubular basement membrane than in the distal basement membrane and Bowman capsule. It has been suggested that the active SMB domain may be permitted considerable disulfide bond heterogeneity or variability, thus 2 alternate disulfide patterns based on 3D structures are described with 1 disulfide bond conserved in both. Antibodies against TINAG are found in sera of patients with tubulointerstitial nephritis, a rare autoimmune disorder that causes acute and chronic renal injury. Belongs to the peptidase C1 family. Contains 1 SMB (somatomedin-B) domain. nucleotide binding cysteine-type endopeptidase activity scavenger receptor activity extracellular region basement membrane extracellular space proteolysis endocytosis immune response cell adhesion cysteine-type peptidase activity polysaccharide binding uc003pcj.1 uc003pcj.2 uc003pcj.3 uc003pcj.4 
ENST00000259803.8 GCM1 ENST00000259803.8 Homo sapiens glial cells missing transcription factor 1 (GCM1), mRNA. (from RefSeq NM_003643) ENST00000259803.1 ENST00000259803.2 ENST00000259803.3 ENST00000259803.4 ENST00000259803.5 ENST00000259803.6 ENST00000259803.7 GCM1_HUMAN GCMA NM_003643 Q4VAQ7 Q5T0X0 Q99468 Q9NP62 Q9P1X3 uc003pbp.1 uc003pbp.2 uc003pbp.3 uc003pbp.4 uc003pbp.5 This gene encodes a DNA-binding protein with a gcm-motif (glial cell missing motif). The encoded protein is a homolog of the Drosophila glial cells missing gene (gcm). This protein binds to the GCM-motif (A/G)CCCGCAT, a novel sequence among known targets of DNA-binding proteins. The N-terminal DNA-binding domain confers the unique DNA-binding activity of this protein. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC096289.1, D88613.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142853, SAMEA2149398 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000259803.8/ ENSP00000259803.7 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Transcription factor that is necessary for placental development. Binds to the trophoblast-specific element 2 (TSE2) of the aromatase gene enhancer. Nucleus (Potential). Placenta specific. Polyubiquitinated in the presence of UBE2D2 and FBXW2 (in vitro). Contains 1 GCM 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 DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus transcription factor complex regulation of transcription, DNA-templated transcription from RNA polymerase II promoter multicellular organism development transcription factor binding zinc ion binding anatomical structure morphogenesis gliogenesis histone deacetylase binding positive regulation of transcription from RNA polymerase II promoter metal ion binding astrocyte fate commitment positive regulation of syncytium formation by plasma membrane fusion branching involved in labyrinthine layer morphogenesis cell differentiation involved in embryonic placenta development regulation of cell differentiation involved in embryonic placenta development uc003pbp.1 uc003pbp.2 uc003pbp.3 uc003pbp.4 uc003pbp.5 
ENST00000259845.5 PSORS1C2 ENST00000259845.5 Homo sapiens psoriasis susceptibility 1 candidate 2 (PSORS1C2), mRNA. (from RefSeq NM_014069) C6orf17 ENST00000259845.1 ENST00000259845.2 ENST00000259845.3 ENST00000259845.4 NM_014069 PS1C2_HUMAN Q5STD0 Q9UIG4 SPR1 uc003nso.1 uc003nso.2 uc003nso.3 uc003nso.4 uc003nso.5 uc003nso.6 Secreted (Potential). Expressed in skin. Also expressed in heart and skeletal muscle. molecular_function cellular_component extracellular region biological_process uc003nso.1 uc003nso.2 uc003nso.3 uc003nso.4 uc003nso.5 uc003nso.6 
ENST00000259870.4 C6orf15 ENST00000259870.4 Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA. (from RefSeq NM_014070) B0S7V8 CF015_HUMAN ENST00000259870.1 ENST00000259870.2 ENST00000259870.3 NM_014070 Q0EFA6 Q2L6G7 Q5SQ81 Q6UXA7 Q86Z05 Q9UIG3 STG UNQ1840/PRO3566 uc003nsk.1 uc003nsk.2 uc003nsk.3 Binds to numerous extracellular matrix proteins (By similarity). Secreted, extracellular space, extracellular matrix (By similarity). Expressed in skin and tonsils. molecular_function cellular_component extracellular region biological_process uc003nsk.1 uc003nsk.2 uc003nsk.3 
ENST00000259873.5 MRPS18B ENST00000259873.5 Homo sapiens mitochondrial ribosomal protein S18B (MRPS18B), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_014046) A6NDQ0 C6orf14 ENST00000259873.1 ENST00000259873.2 ENST00000259873.3 ENST00000259873.4 HSPC183 NM_014046 PTD017 Q659G4 Q9BS27 Q9Y676 RT18B_HUMAN uc003nqo.1 uc003nqo.2 uc003nqo.3 uc003nqo.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 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.963164.1, AF151017.1 [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 :: ENST00000259873.5/ ENSP00000259873.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Component of the mitochondrial ribosome small subunit (28S) which comprises a 12S rRNA and about 30 distinct proteins. Q9UBC1:NFKBIL1; NbExp=1; IntAct=EBI-750085, EBI-1043728; Mitochondrion. Belongs to the ribosomal protein S18P family. structural constituent of ribosome protein binding nucleoplasm mitochondrion mitochondrial inner membrane mitochondrial small ribosomal subunit ribosome translation cell junction mitochondrial translation mitochondrial translational elongation mitochondrial translational termination uc003nqo.1 uc003nqo.2 uc003nqo.3 uc003nqo.4 
ENST00000259874.6 IER3 ENST00000259874.6 Homo sapiens immediate early response 3 (IER3), mRNA. (from RefSeq NM_003897) DIF2 ENST00000259874.1 ENST00000259874.2 ENST00000259874.3 ENST00000259874.4 ENST00000259874.5 IEX1 IEX1_HUMAN NM_003897 P46695 PRG1 Q5SU30 Q92691 Q93044 uc003nrn.1 uc003nrn.2 uc003nrn.3 uc003nrn.4 uc003nrn.5 This gene functions in the protection of cells from Fas- or tumor necrosis factor type alpha-induced apoptosis. Partially degraded and unspliced transcripts are found after virus infection in vitro, but these transcripts are not found in vivo and do not generate a valid 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 :: BC000844.2, BC005080.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000259874.6/ ENSP00000259874.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May play a role in the ERK signaling pathway by inhibiting the dephosphorylation of ERK by phosphatase PP2A- PPP2R5C holoenzyme. Acts also as an ERK downstream effector mediating survival. Interacts with the PPP2R5C-PP2A holoenzyme and ERK kinases; regulates ERK dephosphorylation. P49069:CAMLG; NbExp=2; IntAct=EBI-1748945, EBI-1748958; Membrane; Single-pass type II membrane protein. By radiation, 12-O-tetradecanoyl phorbol-13 acetate (TPA), okadaic acid and TNF. Phosphorylated at Thr-18, Thr-123 and Ser-126 by MAPK1/ERK2 and probably MAPK3/ERK1. Upon phosphorylation by MAPK1/ERK2 and MAPK3/ERK1, acquires the ability to inhibit cell death induced by various stimuli. Glycosylated. Belongs to the IER3 family. protein binding nucleus cytosol apoptotic process anatomical structure morphogenesis regulation of phosphatidylinositol 3-kinase signaling membrane integral component of membrane negative regulation of apoptotic process regulation of response to DNA damage stimulus uc003nrn.1 uc003nrn.2 uc003nrn.3 uc003nrn.4 uc003nrn.5 
ENST00000259881.10 PSORS1C1 ENST00000259881.10 Homo sapiens psoriasis susceptibility 1 candidate 1 (PSORS1C1), mRNA. (from RefSeq NM_014068) B0V083 C6orf16 ENST00000259881.1 ENST00000259881.2 ENST00000259881.3 ENST00000259881.4 ENST00000259881.5 ENST00000259881.6 ENST00000259881.7 ENST00000259881.8 ENST00000259881.9 NM_014068 PS1C1_HUMAN Q5ST21 Q86WJ8 Q86WJ9 Q96QC3 Q9UIG5 SEEK1 uc003nsl.1 uc003nsl.2 uc003nsl.3 This gene is one of several genes thought to confer susceptibility to psoriasis and systemic sclerosis, located on chromosome 6 near the major histocompatibility complex (MHC) class I region. [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 :: AB031479.1, AF484418.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA2144333, SAMEA2156266 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000259881.10/ ENSP00000259881.9 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UIG5-1; Sequence=Displayed; Name=2; IsoId=Q9UIG5-2; Sequence=VSP_009008; Expressed in skin. Also found in heart, placenta, liver, skeletal muscle and pancreas. Sequence=BAB63314.1; Type=Erroneous gene model prediction; Sequence=BAC54950.1; Type=Erroneous gene model prediction; uc003nsl.1 uc003nsl.2 uc003nsl.3 
ENST00000259895.9 GTF2H4 ENST00000259895.9 Homo sapiens general transcription factor IIH subunit 4 (GTF2H4), mRNA. (from RefSeq NM_001517) ENST00000259895.1 ENST00000259895.2 ENST00000259895.3 ENST00000259895.4 ENST00000259895.5 ENST00000259895.6 ENST00000259895.7 ENST00000259895.8 NM_001517 Q76KU4 Q92759 TF2H4_HUMAN uc003nsa.1 uc003nsa.2 uc003nsa.3 Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. One of the 6 subunits forming the core-TFIIH basal transcription factor which associates with the CAK complex composed of CDK7, CCNH/cyclin H and MNAT1 to form the TFIIH basal transcription factor. Nucleus. Belongs to the TFB2 family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/gtf2h4/"; core TFIIH complex portion of holo TFIIH complex core TFIIH complex nucleotide-excision repair, DNA duplex unwinding ATPase activator activity double-stranded DNA binding protein binding nucleus nucleoplasm transcription factor TFIID complex holo TFIIH complex DNA repair transcription-coupled nucleotide-excision repair nucleotide-excision repair nucleotide-excision repair, preincision complex stabilization nucleotide-excision repair, preincision complex assembly nucleotide-excision repair, DNA incision, 3'-to lesion nucleotide-excision repair, DNA incision, 5'-to lesion transcription initiation from RNA polymerase I promoter transcription elongation from RNA polymerase I promoter termination of RNA polymerase I transcription transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter transcription elongation from RNA polymerase II promoter 7-methylguanosine mRNA capping cellular response to DNA damage stimulus obsolete general RNA polymerase II transcription factor activity nuclear speck positive regulation of ATPase activity nucleotide-excision repair, DNA incision phosphorylation of RNA polymerase II C-terminal domain global genome nucleotide-excision repair protein kinase activity DNA-dependent ATPase activity RNA polymerase II carboxy-terminal domain kinase activity uc003nsa.1 uc003nsa.2 uc003nsa.3 
ENST00000259915.13 POU5F1 ENST00000259915.13 Homo sapiens POU class 5 homeobox 1 (POU5F1), transcript variant 1, mRNA. (from RefSeq NM_002701) A6NCS1 A6NLL8 D2IYK4 ENST00000259915.1 ENST00000259915.10 ENST00000259915.11 ENST00000259915.12 ENST00000259915.2 ENST00000259915.3 ENST00000259915.4 ENST00000259915.5 ENST00000259915.6 ENST00000259915.7 ENST00000259915.8 ENST00000259915.9 NM_002701 OCT3 OCT4 OTF3 P31359 PO5F1_HUMAN Q01860 Q15167 Q15168 Q16422 Q5STF3 Q5STF4 uc003nsv.1 uc003nsv.2 uc003nsv.3 uc003nsv.4 uc003nsv.5 This gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is associated with tumorigenesis. This gene can participate in a translocation with the Ewing's sarcoma gene on chromosome 21, which also leads to tumor formation. Alternative splicing, as well as usage of alternative AUG and non-AUG translation initiation codons, results in multiple isoforms. One of the AUG start codons is polymorphic in human populations. Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12. [provided by RefSeq, Oct 2013]. Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). Forms a trimeric complex with SOX2 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206. Critical for early embryogenesis and for embryonic stem cell pluripotency. Interacts with UBE2I and ZSCAN10 (By similarity). Interacts with PKM. Interacts with WWP2. Q9UJU5:FOXD3; NbExp=2; IntAct=EBI-475687, EBI-475674; Nucleus. Note=Expressed in a diffuse and slightly punctuate pattern. Event=Alternative splicing; Named isoforms=2; Name=A; Synonyms=Oct-3A, Oct3A; IsoId=Q01860-1; Sequence=Displayed; Name=B; Synonyms=Oct-3B, Oct3B; IsoId=Q01860-2; Sequence=VSP_002333; Expressed in developing brain. Highest levels found in specific cell layers of the cortex, the olfactory bulb, the hippocampus and the cerebellum. Low levels of expression in adult tissues. Highly expressed in undifferentiated embryonic stem cells and expression decreases gradually after embryoid body (EB) formation. Transcriptional activity is positively regulated by PKM. The POU-specific domain mediates interaction with PKM. Sumoylation enhances the protein stability, DNA binding and transactivation activity. Sumoylation is required for enhanced YES1 expression (By similarity). Ubiquitinated; undergoes 'Lys-63'-linked polyubiquitination by WWP2 leading to proteasomal degradation (By similarity). POU5F1/OCT4, SOX2, MYC/c-Myc and KLF4 are the four Yamanaka factors. When combined, these factors are sufficient to reprogram differentiated cells to an embryonic-like state designated iPS (induced pluripotent stem) cells. iPS cells exhibit the morphology and growth properties of ES cells and express ES cell marker genes. Several pseudogenes of POU5F1 have been described on chromosomes 1, 3, 8, 10 and 12. 2 of them, localized in chromosomes 8 and 10, are transcribed in cancer tissues but not in normal ones and may be involved in the regulation of POU5F1 gene activity in carcinogenesis. Belongs to the POU transcription factor family. Class- 5 subfamily. Contains 1 homeobox DNA-binding domain. Contains 1 POU-specific domain. Name=Wikipedia; Note=Oct-4 entry; URL="http://en.wikipedia.org/wiki/Oct-4"; negative regulation of transcription from RNA polymerase II promoter transcription 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 endodermal cell fate specification blastocyst development BMP signaling pathway involved in heart induction DNA binding transcription factor activity, sequence-specific DNA binding RNA binding protein binding nucleus nucleoplasm transcription factor complex cytoplasm mitochondrion cytosol regulation of transcription, DNA-templated transcription from RNA polymerase II promoter multicellular organism development transcription factor binding response to wounding anatomical structure morphogenesis regulation of asymmetric cell division regulation of gene expression ubiquitin protein ligase binding somatic stem cell population maintenance miRNA binding mRNA transcription from RNA polymerase II promoter sequence-specific DNA binding transcription regulatory region DNA binding positive regulation of transcription from RNA polymerase II promoter positive regulation of SMAD protein import into nucleus cell fate commitment involved in formation of primary germ layer cardiac cell fate determination negative regulation of gene silencing by miRNA regulation of heart induction by regulation of canonical Wnt signaling pathway positive regulation of canonical Wnt signaling pathway regulation of methylation-dependent chromatin silencing uc003nsv.1 uc003nsv.2 uc003nsv.3 uc003nsv.4 uc003nsv.5 
ENST00000259938.7 CLPS ENST00000259938.7 Homo sapiens colipase (CLPS), transcript variant 1, mRNA. (from RefSeq NM_001832) COL_HUMAN ENST00000259938.1 ENST00000259938.2 ENST00000259938.3 ENST00000259938.4 ENST00000259938.5 ENST00000259938.6 NM_001832 P04118 Q5T9G7 Q5U809 uc003ole.1 uc003ole.2 uc003ole.3 uc003ole.4 The protein encoded by this gene is a cofactor needed by pancreatic lipase for efficient dietary lipid hydrolysis. It binds to the C-terminal, non-catalytic domain of lipase, thereby stabilizing an active conformation and considerably increasing the overall hydrophobic binding site. The gene product allows lipase to anchor noncovalently to the surface of lipid micelles, counteracting the destabilizing influence of intestinal bile salts. This cofactor is only expressed in pancreatic acinar cells, suggesting regulation of expression by tissue-specific elements. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. Colipase is a cofactor of pancreatic lipase. It allows the lipase to anchor itself to the lipid-water interface. Without colipase the enzyme is washed off by bile salts, which have an inhibitory effect on the lipase. Enterostatin has a biological activity as a satiety signal. Forms a 1:1 stoichiometric complex with pancreatic lipase. Secreted. Expressed by the pancreas. Variant Cys-109 is statistically significantly associated with an increased risk of type 2 diabetes. Belongs to the colipase family. Name=Wikipedia; Note=Colipase entry; URL="http://en.wikipedia.org/wiki/Colipase"; retinoid metabolic process extracellular region lipid metabolic process digestion enzyme activator activity response to bacterium lipid catabolic process response to food positive regulation of catalytic activity lipid digestion uc003ole.1 uc003ole.2 uc003ole.3 uc003ole.4 
ENST00000259939.4 RNF144B ENST00000259939.4 Homo sapiens ring finger protein 144B (RNF144B), mRNA. (from RefSeq NM_182757) B3KUA8 ENST00000259939.1 ENST00000259939.2 ENST00000259939.3 IBRDC2 NM_182757 P53RFP Q5TB85 Q6P4Q0 Q7Z419 Q8N3R7 Q9BX38 R144B_HUMAN uc003ncs.1 uc003ncs.2 uc003ncs.3 uc003ncs.4 E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates such as LCMT2, thereby promoting their degradation. Induces apoptosis via a p53/TP53-dependent but caspase-independent mechanism. However, its overexpression also produces a decrease of the ubiquitin-dependent stability of BAX, a pro-apoptotic protein, ultimately leading to protection of cell death; But, it is not an anti-apoptotic protein per se. Protein modification; protein ubiquitination. Interacts with UBE2L3, UBE2L6 and LCMT2, as well as with BAX. Mitochondrion membrane; Single-pass membrane protein. Cytoplasm. Note=Mostly cytosololic, accumulates in submitochondrial domains specifically upon apoptosis induction, in synchrony with BAX activation. Broadly expressed, with lowest levels in brain and thymus, and highest levels detectable in heart, ovary and testis. The RING-type zinc finger domain mediates binding to an E2 ubiquitin-conjugating enzyme (By similarity). The transmembrane domain is essential for translocation to the mitochondria upon induction of apoptosis. Auto-ubiquitinated. Belongs to the RBR family. RNF144 subfamily. Contains 1 IBR-type zinc finger. Contains 2 RING-type zinc fingers. Lacks the His residue in the RING-type domain 2 that is one of the conserved features of the family. Sequence=CAD38622.1; Type=Erroneous initiation; ubiquitin ligase complex protein polyubiquitination ubiquitin-protein transferase activity protein binding cytoplasm mitochondrion cytosol ubiquitin-dependent protein catabolic process apoptotic process membrane integral component of membrane protein ubiquitination transferase activity ubiquitin conjugating enzyme binding mitochondrial membrane positive regulation of proteasomal ubiquitin-dependent protein catabolic process negative regulation of apoptotic process metal ion binding ubiquitin protein ligase activity uc003ncs.1 uc003ncs.2 uc003ncs.3 uc003ncs.4 
ENST00000259953.8 NRM ENST00000259953.8 Homo sapiens nurim (NRM), transcript variant 1, mRNA. (from RefSeq NM_007243) B0S7R0 B0S7R1 ENST00000259953.1 ENST00000259953.2 ENST00000259953.3 ENST00000259953.4 ENST00000259953.5 ENST00000259953.6 ENST00000259953.7 NM_007243 NRM29 NRM_HUMAN Q5JP57 Q5JP58 Q5JP59 Q5JP60 Q8IXM6 Q8WU45 Q9BSX3 Q9UN92 UNQ555/PRO1112 uc003nrc.1 uc003nrc.2 uc003nrc.3 uc003nrc.4 The protein encoded by this gene contains transmembrane domains and resides within the inner nuclear membrane, where it is tightly associated with the nucleus. This protein shares homology with isoprenylcysteine carboxymethyltransferase enzymes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]. ##Evidence-Data-START## Transcript exon combination :: AK075509.1 [ECO:0000332] ##Evidence-Data-END## Nucleus inner membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8IXM6-1; Sequence=Displayed; Name=2; IsoId=Q8IXM6-2; Sequence=VSP_027627; Belongs to the nurim family. molecular_function protein binding nucleus nuclear envelope nuclear inner membrane biological_process membrane integral component of membrane nuclear membrane uc003nrc.1 uc003nrc.2 uc003nrc.3 uc003nrc.4 
ENST00000259963.4 FAM8A1 ENST00000259963.4 Homo sapiens family with sequence similarity 8 member A1 (FAM8A1), mRNA. (from RefSeq NM_016255) AHCP B2R725 ENST00000259963.1 ENST00000259963.2 ENST00000259963.3 FA8A1_HUMAN NM_016255 Q9UBU6 uc003ncc.1 uc003ncc.2 uc003ncc.3 uc003ncc.4 uc003ncc.5 Membrane; Multi-pass membrane protein (Potential). Ubiquitously expressed, with a higher level of expression in testis. Contains 1 RDD domain. membrane integral component of membrane uc003ncc.1 uc003ncc.2 uc003ncc.3 uc003ncc.4 uc003ncc.5 
ENST00000259983.8 C6orf52 ENST00000259983.8 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q5T4I8-1; Sequence=Displayed; Name=2; IsoId=Q5T4I8-2; Sequence=VSP_026991; Note=No experimental confirmation available; (from UniProt Q5T4I8) CF052_HUMAN ENST00000259983.1 ENST00000259983.2 ENST00000259983.3 ENST00000259983.4 ENST00000259983.5 ENST00000259983.6 ENST00000259983.7 NM_001388311 Q5T4I7 Q5T4I8 Q96AS6 uc011dij.1 uc011dij.2 uc011dij.3 uc011dij.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q5T4I8-1; Sequence=Displayed; Name=2; IsoId=Q5T4I8-2; Sequence=VSP_026991; Note=No experimental confirmation available; Sequence=AAH16820.1; Type=Erroneous initiation; Sequence=CAI14001.1; Type=Erroneous initiation; uc011dij.1 uc011dij.2 uc011dij.3 uc011dij.4 
ENST00000259989.7 FGFBP2 ENST00000259989.7 Homo sapiens fibroblast growth factor binding protein 2 (FGFBP2), mRNA. (from RefSeq NM_031950) ENST00000259989.1 ENST00000259989.2 ENST00000259989.3 ENST00000259989.4 ENST00000259989.5 ENST00000259989.6 FGFP2_HUMAN KSP37 NM_031950 Q9BYJ0 UNQ425/PRO1065 uc003gon.1 uc003gon.2 uc003gon.3 uc003gon.4 uc003gon.5 This gene encodes a member of the fibroblast growth factor binding protein family. The encoded protein is a serum protein that is selectively secreted by cytotoxic lymphocytes and may be involved in cytotoxic lymphocyte-mediated immunity. An increase in the amount of gene product may be associated with atopic asthma and mild extrinsic asthma.[provided by RefSeq Staff, Oct 2008]. ##Evidence-Data-START## Transcript exon combination :: AY358978.1, BC025720.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01820693 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000259989.7/ ENSP00000259989.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Secreted, extracellular space. Expressed in serum, peripheral leukocytes and cytotoxic T-lymphocytes, but not in granulocytes and monocytes (at protein level). Belongs to the fibroblast growth factor-binding protein family. extracellular region extracellular space cell-cell signaling growth factor binding uc003gon.1 uc003gon.2 uc003gon.3 uc003gon.4 uc003gon.5 
ENST00000260045.8 THAP12 ENST00000260045.8 Homo sapiens THAP domain containing 12 (THAP12), transcript variant 2, non-coding RNA. (from RefSeq NR_130898) A8K728 DAP4 ENST00000260045.1 ENST00000260045.2 ENST00000260045.3 ENST00000260045.4 ENST00000260045.5 ENST00000260045.6 ENST00000260045.7 NR_130898 O43422 P52K_HUMAN P52RIPK PRKRIR Q17RY9 Q8WTW1 Q9Y3Z4 THAP0 uc001oxh.1 uc001oxh.2 uc001oxh.3 Upstream regulator of interferon-induced serine/threonine protein kinase R (PKR). May block the PKR- inhibitory function of P58IPK, resulting in restoration of kinase activity and suppression of cell growth. Interacts with P58IPK, probably sequestring it. Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=O43422-1; Sequence=Displayed; Name=Short; IsoId=O43422-2; Sequence=VSP_004355, VSP_004356; Note=No experimental confirmation available; Contains 1 THAP-type zinc finger. Sequence=AAH21992.1; Type=Erroneous initiation; Sequence=CAB43226.1; Type=Frameshift; Positions=471; nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding nucleic acid binding DNA binding protein binding nucleus regulation of transcription from RNA polymerase II promoter signal transduction negative regulation of cell proliferation metal ion binding protein dimerization activity uc001oxh.1 uc001oxh.2 uc001oxh.3 
ENST00000260061.9 LRRC32 ENST00000260061.9 Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 6, mRNA. (from RefSeq NM_001370190) D11S833E ENST00000260061.1 ENST00000260061.2 ENST00000260061.3 ENST00000260061.4 ENST00000260061.5 ENST00000260061.6 ENST00000260061.7 ENST00000260061.8 GARP LRC32_HUMAN NM_001370190 Q14392 Q86V06 uc001oxr.1 uc001oxr.2 uc001oxr.3 uc001oxr.4 This gene encodes a type I membrane protein which contains 20 leucine-rich repeats. Alterations in the chromosomal region 11q13-11q14 are involved in several pathologies. [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## RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## Membrane; Single-pass type I membrane protein. Contains 20 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. Sequence=AAH52210.2; Type=Erroneous initiation; protein binding extracellular space nucleoplasm plasma membrane integral component of plasma membrane transforming growth factor beta receptor signaling pathway cell surface positive regulation of gene expression membrane integral component of membrane growth factor binding extracellular matrix negative regulation of activated T cell proliferation transforming growth factor beta binding negative regulation of cytokine secretion regulation of transforming growth factor beta activation regulation of transforming growth factor beta3 activation uc001oxr.1 uc001oxr.2 uc001oxr.3 uc001oxr.4 
ENST00000260102.9 MRPL15 ENST00000260102.9 Homo sapiens mitochondrial ribosomal protein L15 (MRPL15), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_014175) ENST00000260102.1 ENST00000260102.2 ENST00000260102.3 ENST00000260102.4 ENST00000260102.5 ENST00000260102.6 ENST00000260102.7 ENST00000260102.8 HSPC145 NM_014175 Q96Q54 Q9H0Y1 Q9P015 RM15_HUMAN uc003xsa.1 uc003xsa.2 uc003xsa.3 uc003xsa.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 that belongs to the EcoL15 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 15q. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1803616.12147.1, SRR1660807.85521.1 [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 :: ENST00000260102.9/ ENSP00000260102.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Mitochondrion (By similarity). Belongs to the ribosomal protein L15P family. RNA binding structural constituent of ribosome protein binding mitochondrion mitochondrial inner membrane mitochondrial large ribosomal subunit ribosome translation large ribosomal subunit mitochondrial translational elongation mitochondrial translational termination cellular response to leukemia inhibitory factor uc003xsa.1 uc003xsa.2 uc003xsa.3 uc003xsa.4 
ENST00000260113.7 PI15 ENST00000260113.7 Homo sapiens peptidase inhibitor 15 (PI15), transcript variant 1, mRNA. (from RefSeq NM_015886) CRISP8 ENST00000260113.1 ENST00000260113.2 ENST00000260113.3 ENST00000260113.4 ENST00000260113.5 ENST00000260113.6 NM_015886 O43692 P25TI PI15_HUMAN Q68CY1 uc003yal.1 uc003yal.2 uc003yal.3 uc003yal.4 This gene encodes a trypsin inhibitor. The protein shares similarity to insect venom allergens, mammalian testis-specific proteins and plant pathogenesis-related proteins. It is frequently expressed in human neuroblastoma and glioblastoma cell lines, and thus may play a 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. ##Evidence-Data-START## Transcript exon combination :: CR749657.1, SRR1803611.259258.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000260113.7/ ENSP00000260113.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Serine protease inhibitor which displays weak inhibitory activity against trypsin. Secreted. Weakly expressed. Expressed at low level in prostate, mammary gland, salivary gland and thyroid gland. N-glycosylated (Probable). Belongs to the CRISP family. extracellular region extracellular space multicellular organism development biological_process negative regulation of peptidase activity peptidase inhibitor activity extracellular exosome uc003yal.1 uc003yal.2 uc003yal.3 uc003yal.4 
ENST00000260116.5 TTPA ENST00000260116.5 Homo sapiens alpha tocopherol transfer protein (TTPA), mRNA. (from RefSeq NM_000370) ENST00000260116.1 ENST00000260116.2 ENST00000260116.3 ENST00000260116.4 NM_000370 P49638 Q71V64 TPP1 TTPA_HUMAN uc003xux.1 uc003xux.2 uc003xux.3 uc003xux.4 This gene encodes a soluble protein that binds alpha-trocopherol, a form of vitamin E, with high selectivity and affinity. This protein plays an important role in regulating vitamin E levels in the body by transporting vitamin E between membrane vesicles and facilitating the secretion of vitamin E from hepatocytes to circulating lipoproteins. Mutations in this gene cause hereditary vitamin E deficiency (ataxia with vitamin E deficiency, AVED) and retinitis pigmentosa. [provided by RefSeq, Nov 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 :: SRR1660803.123094.1, BC041784.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN04284274 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000260116.5/ ENSP00000260116.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Binds alpha-tocopherol and enhances its transfer between separate membranes. Cytoplasm. Defects in TTPA are the cause of ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]. AVED is an autosomal recessive disease characterized by spinocerebellar degeneration. It causes ataxia and peripheral neuropathy that resembles Friedreich ataxia. AVED patients have markedly reduced plasma levels of vitamin E. Contains 1 CRAL-TRIO domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TTPA"; placenta development embryonic placenta development protein binding phosphatidylinositol-4,5-bisphosphate binding cytoplasm late endosome cytosol lipid metabolic process response to nutrient lipid binding vitamin E binding response to pH response to toxic substance vitamin binding developmental process vitamin E metabolic process phosphatidylinositol-3,4-bisphosphate binding vitamin transport intracellular pH reduction negative regulation of cell death negative regulation of establishment of blood-brain barrier uc003xux.1 uc003xux.2 uc003xux.3 uc003xux.4 
ENST00000260118.7 GGH ENST00000260118.7 Homo sapiens gamma-glutamyl hydrolase (GGH), mRNA. (from RefSeq NM_003878) ENST00000260118.1 ENST00000260118.2 ENST00000260118.3 ENST00000260118.4 ENST00000260118.5 ENST00000260118.6 GGH_HUMAN NM_003878 Q92820 uc003xuw.1 uc003xuw.2 uc003xuw.3 uc003xuw.4 uc003xuw.5 This gene catalyzes the hydrolysis of folylpoly-gamma-glutamates and antifolylpoly-gamma-glutamates by the removal of gamma-linked polyglutamates and glutamate. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC025025.1, SRR1163655.419599.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000260118.7/ ENSP00000260118.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Hydrolyzes the polyglutamate sidechains of pteroylpolyglutamates. Progressively removes gamma-glutamyl residues from pteroylpoly-gamma-glutamate to yield pteroyl-alpha- glutamate (folic acid) and free glutamate. May play an important role in the bioavailability of dietary pteroylpolyglutamates and in the metabolism of pteroylpolyglutamates and antifolates. Hydrolysis of a gamma-glutamyl bond. Homodimer. Secreted, extracellular space. Lysosome. Melanosome. Note=While its intracellular location is primarily the lysosome, most of the enzyme activity is secreted. Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Belongs to the peptidase C26 family. Contains 1 gamma-glutamyl hydrolase domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/GGHID44358ch8q12.html"; extracellular region extracellular space nucleus lysosome vacuole cytosol proteolysis exopeptidase activity omega peptidase activity response to zinc ion hydrolase activity response to insulin gamma-glutamyl-peptidase activity azurophil granule lumen specific granule lumen melanosome response to drug neutrophil degranulation response to ethanol tetrahydrofolylpolyglutamate metabolic process extracellular exosome tertiary granule lumen uc003xuw.1 uc003xuw.2 uc003xuw.3 uc003xuw.4 uc003xuw.5 
ENST00000260126.9 SLCO5A1 ENST00000260126.9 Homo sapiens solute carrier organic anion transporter family member 5A1 (SLCO5A1), transcript variant 1, mRNA. (from RefSeq NM_030958) B2RPF7 ENST00000260126.1 ENST00000260126.2 ENST00000260126.3 ENST00000260126.4 ENST00000260126.5 ENST00000260126.6 ENST00000260126.7 ENST00000260126.8 NM_030958 OATP5A1 Q9H2Y9 SLC21A15 SO5A1_HUMAN uc003xyl.1 uc003xyl.2 uc003xyl.3 uc003xyl.4 uc003xyl.5 This gene encodes a 12 transmembrane domain protein that is a member of the solute carrier organic anion transporter superfamily. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]. Cell membrane; Multi-pass membrane protein. Belongs to the organo anion transporter (TC 2.A.60) family. Contains 1 Kazal-like domain. plasma membrane integral component of plasma membrane sodium-independent organic anion transmembrane transporter activity membrane integral component of membrane sodium-independent organic anion transport transmembrane transport uc003xyl.1 uc003xyl.2 uc003xyl.3 uc003xyl.4 uc003xyl.5 
ENST00000260129.6 TGS1 ENST00000260129.6 Homo sapiens trimethylguanosine synthase 1 (TGS1), transcript variant 1, mRNA. (from RefSeq NM_024831) A6NJQ5 ENST00000260129.1 ENST00000260129.2 ENST00000260129.3 ENST00000260129.4 ENST00000260129.5 HCA137 NCOA6IP NM_024831 PIMT Q5GH23 Q8TDG9 Q96QU3 Q96RS0 Q9H5V3 TGS1_HUMAN uc003xsj.1 uc003xsj.2 uc003xsj.3 uc003xsj.4 uc003xsj.5 uc003xsj.6 Catalyzes the 2 serial methylation steps for the conversion of the 7-monomethylguanosine (m(7)G) caps of snRNAs and snoRNAs to a 2,2,7-trimethylguanosine (m(2,2,7)G) cap structure. The enzyme is specific for guanine, and N7 methylation must precede N2 methylation. Hypermethylation of the m7G cap of U snRNAs leads to their concentration in nuclear foci, their colocalization with coilin and the formation of canonical Cajal bodies (CBs). Plays a role in transcriptional regulation. S-adenosyl-L-methionine + m(7)G(5')pppR-RNA = S-adenosyl-L-homocysteine + m(2,7)G(5')pppR-RNA. S-adenosyl-L-methionine + m(2,7)G(5')pppR-RNA = S-adenosyl-L-homocysteine + m(2,2,7)G(5')pppR-RNA. Kinetic parameters: KM=30 uM for m(7)GDP; KM=5 uM for S-adenosyl-L-methionine; pH dependence: Optimum pH is 8.5-9.5; May form homooligomers. Interacts with CREBBP/CBP, EED/WAIT1, EP300/P300, NCOA6/PRIP, PPARBP/PBP and SMN. Cytoplasm. Nucleus, Cajal body. Note=A 90 kDa isoform is found in the nucleus while a 55 kDa isoform is found in the cytoplasm and colocalizes with the tubulin network. Ubiquitously expressed. High expression in heart, skeletal muscle, kidney, liver and placenta. Belongs to the methyltransferase superfamily. Trimethylguanosine synthase family. Sequence=AAH11999.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15516.1; Type=Erroneous initiation; Note=Translation N-terminally extended; spliceosomal snRNP assembly RNA methylation protein binding extracellular space nucleus nucleoplasm nucleolus cytoplasm cytosol methyltransferase activity RNA methyltransferase activity 7-methylguanosine RNA capping Cajal body transferase activity regulation of lipid metabolic process ribonucleoprotein complex biogenesis small nuclear ribonucleoprotein complex methylation 7-methylguanosine cap hypermethylation RNA trimethylguanosine synthase activity uc003xsj.1 uc003xsj.2 uc003xsj.3 uc003xsj.4 uc003xsj.5 uc003xsj.6 
ENST00000260191.8 HTR3B ENST00000260191.8 Homo sapiens 5-hydroxytryptamine receptor 3B (HTR3B), transcript variant 1, mRNA. (from RefSeq NM_006028) 5HT3B_HUMAN B0YJ23 ENST00000260191.1 ENST00000260191.2 ENST00000260191.3 ENST00000260191.4 ENST00000260191.5 ENST00000260191.6 ENST00000260191.7 NM_006028 O95264 Q0VJC3 uc001pok.1 uc001pok.2 uc001pok.3 uc001pok.4 uc001pok.5 uc001pok.6 The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit B of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It is not functional as a homomeric complex, but a pentaheteromeric complex with subunit A (HTR3A) displays the full functional features of this receptor. [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 :: AF169255.1, AF080582.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel. Forms a pentaheteromeric complex with HTR3A. Not functional as a homomeric complex. Cell membrane; Multi-pass membrane protein. Note=Presumably retained within the endoplasmic reticulum unless complexed with HTR3A. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O95264-1; Sequence=Displayed; Name=2; IsoId=O95264-2; Sequence=VSP_029796; Expressed in the brain cortex, in the caudate nucleus, the hyppocampus, the thalamus and the amygdala. Detected in the kidney and testis as well as in monocytes of the spleen, small and large intestine, uterus, prostate, ovary and placenta. N-glycosylation required for membrane localization. The HA-stretch region of HTR3B seems to confer increased conductance to HTR3A/HTR3B heteromers compared to that of HTR3A homomers. Belongs to the ligand-gated ion channel (TC 1.A.9) family. 5-hydroxytryptamine receptor (TC 1.A.9.2) subfamily. HTR3B sub-subfamily. transmembrane signaling receptor activity ion channel activity extracellular ligand-gated ion channel activity plasma membrane integral component of plasma membrane ion transport signal transduction serotonin receptor signaling pathway chemical synaptic transmission cell surface ligand-gated ion channel activity membrane integral component of membrane serotonin-gated cation channel activity ion transmembrane transport regulation of membrane potential neuron projection synapse postsynaptic membrane neurological system process serotonin-activated cation-selective channel complex uc001pok.1 uc001pok.2 uc001pok.3 uc001pok.4 uc001pok.5 uc001pok.6 
ENST00000260197.12 SORL1 ENST00000260197.12 Homo sapiens sortilin related receptor 1 (SORL1), mRNA. (from RefSeq NM_003105) B2RNX7 C11orf32 ENST00000260197.1 ENST00000260197.10 ENST00000260197.11 ENST00000260197.2 ENST00000260197.3 ENST00000260197.4 ENST00000260197.5 ENST00000260197.6 ENST00000260197.7 ENST00000260197.8 ENST00000260197.9 NM_003105 Q92673 Q92856 SORL_HUMAN uc001pxx.1 uc001pxx.2 uc001pxx.3 uc001pxx.4 uc001pxx.5 This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded preproprotein is proteolytically processed to generate the mature receptor, which likely plays roles in endocytosis and sorting. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, Feb 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660803.51261.1, Y08110.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000260197.12/ ENSP00000260197.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Likely to be a multifunctional endocytic receptor, that may be implicated in the uptake of lipoproteins and of proteases. Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. Binds the receptor- associated protein (RAP). Could play a role in cell-cell interaction. Interacts with GGA1 and ROCK2. Membrane; Single-pass type I membrane protein (Potential). Expressed mainly in brain, where it is most abundant in the cerebellum, cerebral cortex and the occipital pole; low expression in the putamen and the thalamus. According to PubMed:9157966, found in spinal cord, testis, liver, kidney and pancreas with detectable levels in placenta, lung and heart. According to PubMed:8940146, expressed in the prostate, ovary, thyroid and spleen, but not found in kidney, liver, lung, skeletal muscle, bone marrow and adrenals. The propeptide removed in the N-terminus may be cleaved by furin or homologous proteases. Genetic variations in SORL1 may be associated with increased risk for late onset Alzheimer disease in some populations. Belongs to the VPS10-related sortilin family. SORL1 subfamily. Contains 5 BNR repeats. Contains 1 EGF-like domain. Contains 6 fibronectin type-III domains. Contains 11 LDL-receptor class A domains. Contains 5 LDL-receptor class B repeats. Golgi membrane beta-amyloid binding diet induced thermogenesis transmembrane signaling receptor activity low-density lipoprotein receptor activity protein binding extracellular region extracellular space nuclear envelope lumen endosome early endosome multivesicular body endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus trans-Golgi network plasma membrane integral component of plasma membrane protein targeting protein targeting to lysosome post-Golgi vesicle-mediated transport endocytosis receptor-mediated endocytosis endosome membrane negative regulation of triglyceride catabolic process regulation of smooth muscle cell migration membrane integral component of membrane low-density lipoprotein particle binding ADP-ribosylation factor binding negative regulation of BMP signaling pathway transport vesicle membrane cytoplasmic vesicle early endosome membrane Golgi cisterna negative regulation of protein binding negative regulation of protein oligomerization multivesicular body membrane protein localization to Golgi apparatus insulin receptor recycling negative regulation of MAP kinase activity cellular protein metabolic process protein retention in Golgi apparatus positive regulation of protein catabolic process positive regulation of insulin receptor signaling pathway negative regulation of neurogenesis protein maturation recycling endosome recycling endosome membrane extracellular exosome positive regulation of protein exit from endoplasmic reticulum positive regulation of glial cell-derived neurotrophic factor secretion negative regulation of neuron death negative regulation of beta-amyloid formation positive regulation of choline O-acetyltransferase activity negative regulation of tau-protein kinase activity positive regulation of ER to Golgi vesicle-mediated transport positive regulation of early endosome to recycling endosome transport negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process positive regulation of protein localization to early endosome negative regulation of neurofibrillary tangle assembly positive regulation of adipose tissue development adaptive thermogenesis positive regulation of endocytic recycling uc001pxx.1 uc001pxx.2 uc001pxx.3 uc001pxx.4 uc001pxx.5 
ENST00000260210.5 BUD13 ENST00000260210.5 Homo sapiens BUD13 homolog (BUD13), transcript variant 1, mRNA. (from RefSeq NM_032725) A8K0S0 BUD13_HUMAN ENST00000260210.1 ENST00000260210.2 ENST00000260210.3 ENST00000260210.4 NM_032725 Q96LS7 Q9BRD0 uc001ppn.1 uc001ppn.2 uc001ppn.3 uc001ppn.4 uc001ppn.5 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BRD0-1; Sequence=Displayed; Name=2; IsoId=Q9BRD0-2; Sequence=VSP_025590; Note=No experimental confirmation available; Belongs to the CWC26 family. mRNA splicing, via spliceosome RNA binding protein binding nucleus spliceosomal complex U2-type spliceosomal complex mRNA processing RNA splicing RES complex U2-type precatalytic spliceosome uc001ppn.1 uc001ppn.2 uc001ppn.3 uc001ppn.4 uc001ppn.5 
ENST00000260227.5 MMP7 ENST00000260227.5 Homo sapiens matrix metallopeptidase 7 (MMP7), mRNA. (from RefSeq NM_002423) ENST00000260227.1 ENST00000260227.2 ENST00000260227.3 ENST00000260227.4 MMP7_HUMAN MPSL1 NM_002423 P09237 PUMP1 Q9BTK9 uc001phb.1 uc001phb.2 uc001phb.3 uc001phb.4 uc001phb.5 This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down proteoglycans, fibronectin, elastin and casein and differs from most MMP family members in that it lacks a conserved C-terminal hemopexin domain. The enzyme is involved in wound healing, and studies in mice suggest that it regulates the activity of defensins in intestinal mucosa. The gene is part of a cluster of MMP genes on chromosome 11. This gene exhibits elevated expression levels in multiple human cancers. [provided by RefSeq, Jan 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.102394.1, SRR5189658.160444.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2467146 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000260227.5/ ENSP00000260227.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Degrades casein, gelatins of types I, III, IV, and V, and fibronectin. Activates procollagenase. Cleavage of 14-Ala-|-Leu-15 and 16-Tyr-|-Leu- 17 in B chain of insulin. No action on collagen types I, II, IV, V. Cleaves gelatin chain alpha-2(I) > alpha-1(I). Binds 2 calcium ions per subunit. Binds 2 zinc ions per subunit. Secreted, extracellular space, extracellular matrix (Probable). The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme. Belongs to the peptidase M10A family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mmp7/"; metalloendopeptidase activity serine-type endopeptidase activity protein binding extracellular region extracellular space proteolysis aging heparin binding peptidase activity metallopeptidase activity zinc ion binding cell surface hydrolase activity extracellular matrix disassembly extracellular matrix organization collagen catabolic process extracellular matrix response to nutrient levels estrous cycle metal ion binding maternal process involved in female pregnancy extracellular exosome cellular response to mechanical stimulus uc001phb.1 uc001phb.2 uc001phb.3 uc001phb.4 uc001phb.5 
ENST00000260228.3 MMP20 ENST00000260228.3 Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA. (from RefSeq NM_004771) ENST00000260228.1 ENST00000260228.2 MMP20_HUMAN NM_004771 O60882 Q6DKT9 uc001phc.1 uc001phc.2 uc001phc.3 uc001phc.4 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. The protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and thus thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes located on chromosome 11q22.3. [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 :: Y12779.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000260228.3/ ENSP00000260228.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Degrades amelogenin, the major protein component of the enamel matrix and two of the macromolecules characterizing the cartilage extracellular matrix: aggrecan and the cartilage oligomeric matrix protein (COMP). May play a central role in tooth enamel formation. Cleaves aggrecan at the 360-Asn-|-Phe-361 site. Binds 2 zinc ions per subunit (By similarity). Calcium (By similarity). Secreted, extracellular space, extracellular matrix (By similarity). Expressed specifically in the enamel organ. 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. Autoactivates at least at the 107-Asn-|-Tyr-108 site (By similarity). Defects in MMP20 are the cause of amelogenesis imperfecta hypomaturation type 2A2 (AI2A2) [MIM:612529]. AI2A2 is an autosomal recessive defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. Belongs to the peptidase M10A family. Contains 4 hemopexin-like domains. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mmp20/"; metalloendopeptidase activity protein binding extracellular region extracellular space proteolysis peptidase activity metallopeptidase activity zinc ion binding hydrolase activity extracellular matrix disassembly protein catabolic process extracellular matrix organization collagen catabolic process extracellular matrix metal ion binding regulation of enamel mineralization amelogenesis uc001phc.1 uc001phc.2 uc001phc.3 uc001phc.4 
ENST00000260229.5 MMP27 ENST00000260229.5 Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA. (from RefSeq NM_022122) ENST00000260229.1 ENST00000260229.2 ENST00000260229.3 ENST00000260229.4 MMP27_HUMAN NM_022122 Q6UWK6 Q9H306 UNQ2503/PRO5992 uc001phd.1 uc001phd.2 uc001phd.3 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. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AY358752.1, AF195192.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2147596, SAMEA2162823 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000260229.5/ ENSP00000260229.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Matrix metalloproteinases degrade protein components of the extracellular matrix such as fibronectin, laminin, gelatins and/or collagens (By similarity). Binds 4 calcium ions per subunit (By similarity). Binds 2 zinc ions per subunit (By similarity). Secreted, extracellular space, extracellular matrix (By similarity). Expressed in B-cells. The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme. Belongs to the peptidase M10A family. Contains 4 hemopexin-like domains. metalloendopeptidase activity endoplasmic reticulum endoplasmic reticulum membrane proteolysis peptidase activity metallopeptidase activity zinc ion binding membrane hydrolase activity extracellular matrix organization collagen catabolic process extracellular matrix extrinsic component of endoplasmic reticulum membrane metal ion binding uc001phd.1 uc001phd.2 uc001phd.3 
ENST00000260247.10 DCUN1D5 ENST00000260247.10 Homo sapiens defective in cullin neddylation 1 domain containing 5 (DCUN1D5), transcript variant 1, mRNA. (from RefSeq NM_032299) DCNL5_HUMAN ENST00000260247.1 ENST00000260247.2 ENST00000260247.3 ENST00000260247.4 ENST00000260247.5 ENST00000260247.6 ENST00000260247.7 ENST00000260247.8 ENST00000260247.9 NM_032299 Q3ZTT2 Q9BTE7 uc001phm.1 uc001phm.2 uc001phm.3 uc001phm.4 uc001phm.5 Contains 1 DCUN1 domain. Sequence=AAQ76805.1; Type=Frameshift; Positions=222, 232; ubiquitin ligase complex molecular_function protein binding cellular_component biological_process ubiquitin conjugating enzyme binding ubiquitin-like protein binding protein neddylation positive regulation of ubiquitin-protein transferase activity cullin family protein binding uc001phm.1 uc001phm.2 uc001phm.3 uc001phm.4 uc001phm.5 
ENST00000260257.9 FDXACB1 ENST00000260257.9 Homo sapiens ferredoxin-fold anticodon binding domain containing 1 (FDXACB1), transcript variant 2, non-coding RNA. (from RefSeq NR_038364) A0PJW7 ENST00000260257.1 ENST00000260257.2 ENST00000260257.3 ENST00000260257.4 ENST00000260257.5 ENST00000260257.6 ENST00000260257.7 ENST00000260257.8 FDXA1_HUMAN NR_038364 Q9BRP7 uc001pmc.1 uc001pmc.2 uc001pmc.3 uc001pmc.4 uc001pmc.5 uc001pmc.6 This gene encodes a protein which contains a ferredoxin-fold anticodon-binding domain which is contained in a subset of phenylalanyl tRNA synthetases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]. Contains 1 FDX-ACB domain. Sequence=AAH06136.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; protein binding cytoplasm rRNA (uridine-N3-)-methyltransferase activity rRNA base methylation uc001pmc.1 uc001pmc.2 uc001pmc.3 uc001pmc.4 uc001pmc.5 uc001pmc.6 
ENST00000260270.3 FDX1 ENST00000260270.3 Homo sapiens ferredoxin 1 (FDX1), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_004109) ADX ADX_HUMAN B0YJ14 ENST00000260270.1 ENST00000260270.2 NM_004109 P10109 Q53YD6 uc001pkx.1 uc001pkx.2 uc001pkx.3 uc001pkx.4 uc001pkx.5 This gene encodes a small iron-sulfur protein that transfers electrons from NADPH through ferredoxin reductase to mitochondrial cytochrome P450, involved in steroid, vitamin D, and bile acid metabolism. Pseudogenes of this functional gene are found on chromosomes 20 and 21. [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 :: BC010284.1, SRR1803617.201753.1 [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 :: ENST00000260270.3/ ENSP00000260270.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Participates in the synthesis of thyroid hormones. Essential for the synthesis of various steroid hormones, participates in the reduction of mitochondrial cytochrome P450 for steroidogenesis. Transfers electrons from adrenodoxin reductase to cytochrome P450 cholesterol side-chain cleavage enzyme. Binds 1 2Fe-2S cluster. Redox potential: E(0) is -448 mV; Mitochondrion matrix. Highest levels in the adrenal gland (at protein level). Also detected in kidney and testis (at protein level). Belongs to the adrenodoxin/putidaredoxin family. Contains 1 2Fe-2S ferredoxin-type domain. iron ion binding mitochondrion mitochondrial matrix lipid metabolic process steroid biosynthetic process C21-steroid hormone biosynthetic process steroid metabolic process cholesterol metabolic process electron carrier activity sterol metabolic process electron transport chain hormone biosynthetic process small molecule metabolic process metal ion binding iron-sulfur cluster binding 2 iron, 2 sulfur cluster binding oxidation-reduction process cellular response to cAMP cellular response to forskolin uc001pkx.1 uc001pkx.2 uc001pkx.3 uc001pkx.4 uc001pkx.5 
ENST00000260276.8 C11orf1 ENST00000260276.8 Homo sapiens chromosome 11 open reading frame 1 (C11orf1), transcript variant 1, mRNA. (from RefSeq NM_022761) CK001_HUMAN ENST00000260276.1 ENST00000260276.2 ENST00000260276.3 ENST00000260276.4 ENST00000260276.5 ENST00000260276.6 ENST00000260276.7 NM_022761 Q6I9X7 Q9H5F2 Q9NQC6 uc001pmd.1 uc001pmd.2 uc001pmd.3 uc001pmd.4 uc001pmd.5 Nucleus. Belongs to the UPF0686 family. molecular_function nucleus nucleoplasm biological_process uc001pmd.1 uc001pmd.2 uc001pmd.3 uc001pmd.4 uc001pmd.5 
ENST00000260283.8 ARHGAP20 ENST00000260283.8 Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), transcript variant 1, mRNA. (from RefSeq NM_020809) A8K8C5 B0YIW7 B0YIW8 ENST00000260283.1 ENST00000260283.2 ENST00000260283.3 ENST00000260283.4 ENST00000260283.5 ENST00000260283.6 ENST00000260283.7 KIAA1391 NM_020809 Q6RJU1 Q6RJU2 Q6RJU3 Q6RJU5 Q8IXS1 Q9P2F6 RHG20_HUMAN uc001pkz.1 uc001pkz.2 uc001pkz.3 The protein encoded by this gene is an activator of RHO-type GTPases, transducing a signal from RAP1 to RHO and impacting neurite outgrowth. [provided by RefSeq, Sep 2016]. Sequence Note:. ##Evidence-Data-START## Transcript exon combination :: AY496263.1 [ECO:0000332] ##Evidence-Data-END## GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=1ad; IsoId=Q9P2F6-1; Sequence=Displayed; Name=2; Synonyms=1be; IsoId=Q9P2F6-2; Sequence=VSP_024294; Name=3; Synonyms=1c; IsoId=Q9P2F6-3; Sequence=VSP_024295; Name=4; Synonyms=1e, 1d; IsoId=Q9P2F6-4; Sequence=VSP_024296; Expressed predominantly in the brain. Lower expression is found in lymph nodes. Low expression is found in fetal liver. Note=A chromosomal aberration involving ARHGAP20 may be a cause of B-cell chronic lymphocytic leukemia (B-CLL). Translocation t(X;11)(q21;q23) with BRWD3 does not result in fusion transcripts but disrupts both genes. Contains 1 PH domain. Contains 1 Ras-associating domain. Contains 1 Rho-GAP domain. The translocation involving this gene was originally published as t(X;11)(q13;23) (PubMed:15543602), but BRWD3 is localized to Xq21 and not to Xq13. Sequence=AAH39340.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH39340.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=BAA92629.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAF84979.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAF84979.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ARHGAP20ID42979ch11q23.html"; GTPase activator activity cytosol signal transduction positive regulation of GTPase activity regulation of small GTPase mediated signal transduction uc001pkz.1 uc001pkz.2 uc001pkz.3 
ENST00000260302.8 MMP13 ENST00000260302.8 Homo sapiens matrix metallopeptidase 13 (MMP13), mRNA. (from RefSeq NM_002427) ENST00000260302.1 ENST00000260302.2 ENST00000260302.3 ENST00000260302.4 ENST00000260302.5 ENST00000260302.6 ENST00000260302.7 MMP13_HUMAN NM_002427 P45452 uc001phl.1 uc001phl.2 uc001phl.3 uc001phl.4 uc001phl.5 This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease cleaves type II collagen more efficiently than types I and III. It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. Mutations in this gene are associated with metaphyseal anadysplasia. This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X75308.1, AK222748.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN02400289 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000260302.8/ ENSP00000260302.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Degrades collagen type I. Does not act on gelatin or casein. Could have a role in tumoral process. Binds 4 calcium ions per subunit. Binds 2 zinc ions per subunit. Secreted, extracellular space, extracellular matrix (Probable). Seems to be specific to 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. Defects in MMP13 are the cause of spondyloepimetaphyseal dysplasia Missouri type (SEMD-MO) [MIM:602111]. A bone disease characterized by moderate to severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. Epimetaphyseal changes improve with age. Defects in MMP13 are the cause of metaphyseal anadysplasia type 1 (MANDP1) [MIM:602111]. Metaphyseal anadysplasia consists of an abnormal bone development characterized by severe skeletal changes that, in contrast with the progressive course of most other skeletal dysplasias, resolve spontaneously with age. Clinical characteristics are evident from the first months of life and include slight shortness of stature and a mild varus deformity of the legs. Patients attain a normal stature in adolescence and show improvement or complete resolution of varus deformity of the legs and rhizomelic micromelia. Belongs to the peptidase M10A family. Contains 4 hemopexin-like domains. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mmp13/"; endochondral ossification growth plate cartilage development metalloendopeptidase activity calcium ion binding collagen binding extracellular region extracellular space proteolysis peptidase activity metallopeptidase activity zinc ion binding hydrolase activity extracellular matrix disassembly extracellular matrix organization bone mineralization collagen catabolic process extracellular matrix cellular protein metabolic process metal ion binding cartilage development bone morphogenesis response to beta-amyloid uc001phl.1 uc001phl.2 uc001phl.3 uc001phl.4 uc001phl.5 
ENST00000260323.16 UNC13C ENST00000260323.16 Homo sapiens unc-13 homolog C (UNC13C), transcript variant 1, mRNA. (from RefSeq NM_001080534) ENST00000260323.1 ENST00000260323.10 ENST00000260323.11 ENST00000260323.12 ENST00000260323.13 ENST00000260323.14 ENST00000260323.15 ENST00000260323.2 ENST00000260323.3 ENST00000260323.4 ENST00000260323.5 ENST00000260323.6 ENST00000260323.7 ENST00000260323.8 ENST00000260323.9 NM_001080534 Q0P613 Q8NB66 Q8ND48 Q96NP3 UN13C_HUMAN uc059jkr.1 uc059jkr.2 May play a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. May be involved in the regulation of synaptic transmission at parallel fiber - Purkinje cell synapses (By similarity). Interacts with STX1A and/or STX1B1, VAMP2 and SNAP25 (By similarity). Cytoplasm (By similarity). Membrane; Peripheral membrane protein (By similarity). Cell junction, synapse, presynaptic cell membrane; Peripheral membrane protein (By similarity). Note=Localized to presynaptic structures (By similarity). Exclusively expressed in brain. The C2 domains are not involved in calcium-dependent phospholipid binding (By similarity). 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. Contains 1 phorbol-ester/DAG-type zinc finger. Sequence=AAH40740.1; Type=Erroneous initiation; Sequence=BAB70836.1; Type=Erroneous initiation; Sequence=BAC03675.1; Type=Erroneous initiation; Sequence=BAC03675.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part; calcium ion binding calmodulin binding phospholipid binding cytoplasm plasma membrane exocytosis chemical synaptic transmission neuromuscular junction development membrane synaptic vesicle exocytosis synaptic vesicle docking synaptic vesicle priming synaptic vesicle maturation syntaxin-1 binding diacylglycerol binding cell junction synaptic vesicle membrane neuromuscular junction negative regulation of synaptic plasticity synaptic transmission, glutamatergic intracellular signal transduction presynaptic membrane terminal bouton calyx of Held synapse metal ion binding presynaptic active zone dense core granule priming presynapse presynaptic active zone cytoplasmic component presynaptic dense core vesicle exocytosis uc059jkr.1 uc059jkr.2 
ENST00000260327.9 CTDSPL2 ENST00000260327.9 Homo sapiens CTD small phosphatase like 2 (CTDSPL2), mRNA. (from RefSeq NM_016396) CTSL2_HUMAN ENST00000260327.1 ENST00000260327.2 ENST00000260327.3 ENST00000260327.4 ENST00000260327.5 ENST00000260327.6 ENST00000260327.7 ENST00000260327.8 HSPC058 HSPC129 NM_016396 Q05D32 Q3ZTU1 Q6AI06 Q8IYI9 Q9NVT2 Q9NZX8 Q9P030 uc001ztr.1 uc001ztr.2 uc001ztr.3 uc001ztr.4 uc001ztr.5 Probable phosphatase (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q05D32-1; Sequence=Displayed; Name=2; IsoId=Q05D32-2; Sequence=VSP_033218; Belongs to the CTDSPL2 family. Contains 1 FCP1 homology domain. Sequence=AAF29030.1; Type=Frameshift; Positions=84, 95; Sequence=AAH18623.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAA91664.1; Type=Erroneous initiation; phosphoprotein phosphatase activity protein binding nucleus nucleoplasm protein dephosphorylation hydrolase activity phosphatase activity negative regulation of BMP signaling pathway positive regulation of protein export from nucleus uc001ztr.1 uc001ztr.2 uc001ztr.3 uc001ztr.4 uc001ztr.5 
ENST00000260356.6 THBS1 ENST00000260356.6 Homo sapiens thrombospondin 1 (THBS1), mRNA. (from RefSeq NM_003246) A8K6H4 B9EGH6 ENST00000260356.1 ENST00000260356.2 ENST00000260356.3 ENST00000260356.4 ENST00000260356.5 NM_003246 P07996 Q15667 TSP TSP1 TSP1_HUMAN uc001zkh.1 uc001zkh.2 uc001zkh.3 uc001zkh.4 uc001zkh.5 The protein encoded by this gene is a subunit of a disulfide-linked homotrimeric protein. This protein is an adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein can bind to fibrinogen, fibronectin, laminin, type V collagen and integrins alpha-V/beta-1. This protein has been shown to play roles in platelet aggregation, angiogenesis, and tumorigenesis. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660807.50755.1, SRR1803615.23668.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000260356.6/ ENSP00000260356.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Binds heparin. May play a role in dentinogenesis and/or maintenance of dentin and dental pulp (By similarity). Ligand for CD36 mediating antiangiogenic properties. Homotrimer; disulfide-linked. Interacts (via the TSP type I repeats) with HRG; the interaction blocks the antiangiogenic effect of THBS1 with CD36 (By similarity). Can bind to fibrinogen, fibronectin, laminin, type V collagen and integrins alpha-V/beta- 1, alpha-V/beta-3 and alpha-IIb/beta-3. Interacts (via the TSP type I repeats) with CD36; the interaction conveys an antiangiogenic effect. Belongs to the thrombospondin family. Contains 2 EGF-like domains. Contains 1 laminin G-like domain. Contains 1 TSP C-terminal (TSPC) domain. Contains 3 TSP type-1 domains. Contains 8 TSP type-3 repeats. Contains 1 VWFC domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/THBS1ID42548ch15q15.html"; activation of MAPK activity response to hypoxia phosphatidylserine binding negative regulation of endothelial cell proliferation negative regulation of cell-matrix adhesion fibronectin binding sprouting angiogenesis chronic inflammatory response platelet degranulation negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II negative regulation of dendritic cell antigen processing and presentation integrin binding extracellular matrix structural constituent calcium ion binding protein binding extracellular region fibrinogen complex extracellular space cytoplasm endoplasmic reticulum endoplasmic reticulum lumen inflammatory response immune response response to unfolded protein cell cycle arrest cell adhesion heparin binding positive regulation of cell proliferation response to mechanical stimulus response to glucose external side of plasma membrane cell surface positive regulation of endothelial cell migration negative regulation of endothelial cell migration negative regulation of plasma membrane long-chain fatty acid transport negative regulation of nitric oxide mediated signal transduction negative regulation of cGMP-mediated signaling negative regulation of plasminogen activation positive regulation of macrophage chemotaxis positive regulation of fibroblast migration cell migration negative regulation of angiogenesis sarcoplasmic reticulum fibroblast growth factor binding peptide cross-linking secretory granule low-density lipoprotein particle binding positive regulation of blood coagulation extracellular matrix organization positive regulation of cell migration positive regulation of transforming growth factor beta receptor signaling pathway extracellular matrix platelet alpha granule platelet alpha granule lumen response to magnesium ion response to progesterone negative regulation of interleukin-12 production positive regulation of transforming growth factor beta1 production response to testosterone cellular response to heat response to endoplasmic reticulum stress negative regulation of fibroblast growth factor receptor signaling pathway positive regulation of phosphorylation response to drug positive regulation of tumor necrosis factor biosynthetic process identical protein binding positive regulation of macrophage activation negative regulation of apoptotic process negative regulation of cysteine-type endopeptidase activity involved in apoptotic process laminin binding proteoglycan binding positive regulation of blood vessel endothelial cell migration negative regulation of blood vessel endothelial cell migration engulfment of apoptotic cell regulation of megakaryocyte differentiation positive regulation of translation positive regulation of angiogenesis behavioral response to pain positive regulation of smooth muscle cell proliferation transforming growth factor beta binding extracellular matrix binding positive regulation of chemotaxis response to calcium ion negative regulation of focal adhesion assembly positive regulation of protein kinase B signaling negative regulation of fibrinolysis fibrinogen binding collagen V binding extracellular exosome cellular response to tumor necrosis factor cellular response to growth factor stimulus positive regulation of transforming growth factor beta production negative regulation of cell migration involved in sprouting angiogenesis positive regulation of extrinsic apoptotic signaling pathway via death domain receptors negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis negative regulation of sprouting angiogenesis positive regulation of endothelial cell apoptotic process positive regulation of reactive oxygen species metabolic process negative regulation of endothelial cell chemotaxis negative regulation of extrinsic apoptotic signaling pathway uc001zkh.1 uc001zkh.2 uc001zkh.3 uc001zkh.4 uc001zkh.5 
ENST00000260372.8 HAUS2 ENST00000260372.8 Homo sapiens HAUS augmin like complex subunit 2 (HAUS2), transcript variant 1, mRNA. (from RefSeq NM_018097) C15orf25 C9JH36 CEP27 ENST00000260372.1 ENST00000260372.2 ENST00000260372.3 ENST00000260372.4 ENST00000260372.5 ENST00000260372.6 ENST00000260372.7 HAUS2_HUMAN NM_018097 Q9H9B3 Q9NVX0 uc001zqe.1 uc001zqe.2 uc001zqe.3 uc001zqe.4 uc001zqe.5 The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. [provided by RefSeq, Apr 2016]. 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=3; Name=1; IsoId=Q9NVX0-1; Sequence=Displayed; Name=2; IsoId=Q9NVX0-2; Sequence=VSP_012223; Name=3; IsoId=Q9NVX0-3; Sequence=VSP_040918; Note=No experimental confirmation available; Belongs to the HAUS2 family. G2/M transition of mitotic cell cycle molecular_function protein binding cytoplasm centrosome microtubule organizing center spindle cytosol cytoskeleton microtubule spindle microtubule cell cycle centrosome cycle regulation of G2/M transition of mitotic cell cycle microtubule organizing center organization spindle assembly cell division HAUS complex ciliary basal body docking uc001zqe.1 uc001zqe.2 uc001zqe.3 uc001zqe.4 uc001zqe.5 
ENST00000260379.11 RPLP1 ENST00000260379.11 Homo sapiens ribosomal protein lateral stalk subunit P1 (RPLP1), transcript variant 1, mRNA. (from RefSeq NM_001003) ENST00000260379.1 ENST00000260379.10 ENST00000260379.2 ENST00000260379.3 ENST00000260379.4 ENST00000260379.5 ENST00000260379.6 ENST00000260379.7 ENST00000260379.8 ENST00000260379.9 NM_001003 P05386 RLA1_HUMAN RRP1 uc002asd.1 uc002asd.2 uc002asd.3 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 phosphoprotein that is a component of the 60S subunit. The protein, which is a functional equivalent of the E. coli L7/L12 ribosomal protein, belongs to the L12P family of ribosomal proteins. It plays an important role in the elongation step of protein synthesis. Unlike most ribosomal proteins, which are basic, the encoded protein is acidic. Its C-terminal end is nearly identical to the C-terminal ends of the ribosomal phosphoproteins P0 and P2. The P1 protein can interact with P0 and P2 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. Two alternatively spliced transcript variants that encode different proteins have been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. Plays an important role in the elongation step of protein synthesis. P1 and P2 exist as dimers at the large ribosomal subunit. Belongs to the ribosomal protein L12P family. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic translation structural constituent of ribosome protein binding cytosol ribosome focal adhesion translation translational initiation translational elongation regulation of translation SRP-dependent cotranslational protein targeting to membrane viral transcription cytosolic large ribosomal subunit protein kinase activator activity activation of protein kinase activity ribonucleoprotein complex binding uc002asd.1 uc002asd.2 uc002asd.3 
ENST00000260382.10 LRRC49 ENST00000260382.10 Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 2, mRNA. (from RefSeq NM_017691) ENST00000260382.1 ENST00000260382.2 ENST00000260382.3 ENST00000260382.4 ENST00000260382.5 ENST00000260382.6 ENST00000260382.7 ENST00000260382.8 ENST00000260382.9 LRC49_HUMAN NM_017691 Q8IUZ0 Q9NXM6 uc002asw.1 uc002asw.2 uc002asw.3 uc002asw.4 uc002asw.5 uc002asw.6 Part of the neuronal tubulin polyglutamylase complex which contains TPGS1, TPGS2, TTLL1, LRRC49 and NICN1 (By similarity). Cytoplasm, cytoskeleton. Contains 7 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. cytoplasm cytoskeleton microtubule outer dynein arm assembly uc002asw.1 uc002asw.2 uc002asw.3 uc002asw.4 uc002asw.5 uc002asw.6 
ENST00000260383.11 TUBGCP4 ENST00000260383.11 Homo sapiens tubulin gamma complex associated protein 4 (TUBGCP4), transcript variant 1, mRNA. (from RefSeq NM_001286414) 76P B3KNK6 ENST00000260383.1 ENST00000260383.10 ENST00000260383.2 ENST00000260383.3 ENST00000260383.4 ENST00000260383.5 ENST00000260383.6 ENST00000260383.7 ENST00000260383.8 ENST00000260383.9 GCP4 GCP4_HUMAN NM_001286414 Q969X3 Q9NVF0 Q9UGJ1 uc001zro.1 uc001zro.2 uc001zro.3 uc001zro.4 uc001zro.5 This gene encodes a component of the gamma-tubulin ring complex, which is required for microtubule nucleation. In mammalian cells, the protein localizes to centrosomes in association with gamma-tubulin. Crystal structure analysis revealed a structure composed of five helical bundles arranged around conserved hydrophobic cores. An exposed surface area located in the C-terminal domain is essential and sufficient for direct binding to gamma-tubulin. Mutations in this gene that alter microtubule organization are associated with microcephaly and chorioretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]. Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome. Gamma-tubulin complex is composed of gamma-tubulin, TUBGCP2, TUBGCP3, TUBGCP4, TUBGCP5 and TUBGCP6. Interacts with NINL. Cytoplasm, cytoskeleton, centrosome. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UGJ1-1; Sequence=Displayed; Name=2; IsoId=Q9UGJ1-2; Sequence=VSP_040085; Ubiquitously expressed. Belongs to the TUBGCP family. Sequence=BAA91802.1; Type=Erroneous initiation; Note=T