Predicate | Object |
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rdf:type | |
biopax3:comment |
FUNCTION: May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity (By similarity). Involved in the costimulatory signal essential for T-cell receptor (TCR)- mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3- dependent manner. Recruits CTNNB1 to caveolar membranes and may regulate CTNNB1-mediated signaling through the Wnt pathway. SUBUNIT: Homooligomer. Interacts with GLIPR2, NOSTRIN, SNAP25 and syntaxin. Interacts with rotavirus A NSP4. Interacts (via the N- terminus) with DPP4; the interaction is direct. Interacts with CTNNB1, CDH1 and JUP (By similarity). Interacts with BMX and BTK. SUBCELLULAR LOCATION: Golgi apparatus membrane; Peripheral membrane protein. Cell membrane; Peripheral membrane protein. Membrane, caveola; Peripheral membrane protein. Membrane raft. Note=Colocalized with DPP4 in membrane rafts. Potential hairpin- like structure in the membrane. Membrane protein of caveolae. ALTERNATIVE PRODUCTS: Event=Alternative initiation; Named isoforms=2; Name=Alpha; IsoId=Q03135-1; Sequence=Displayed; Name=Beta; IsoId=Q03135-2; Sequence=VSP_018692; Note=Met-1 is removed. Acetylated on Ala-2; TISSUE SPECIFICITY: Expressed in muscle and lung, less so in liver, brain and kidney. PTM: The initiator methionine for isoform Beta is removed during or just after translation. The new N-terminal amino acid is then N-acetylated. PTM: Phosphorylated at Tyr-14 by ABL1 in response to oxidative stress. DISEASE: Defects in CAV1 are the cause of congenital generalized lipodystrophy type 3 (CGL3) [MIM:612526]; also called Berardinelli-Seip congenital lipodystrophy type 3 (BSCL3). Congenital generalized lipodystrophies are autosomal recessive disorders characterized by a near absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. SIMILARITY: Belongs to the caveolin family. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CAV1ID932ch7q31.html"; WEB RESOURCE: Name=Wikipedia; Note=Caveolin entry; URL="http://en.wikipedia.org/wiki/Caveolin"; GENE SYNONYMS:CAV1 CAV. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 178 AA; 20472 MW; 2424DE9B5E6521D5 CRC64;
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biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:1527,
urn:biopax:RelationshipXref:NCBI GENE_857,
urn:biopax:RelationshipXref:REFSEQ_NP_001744,
urn:biopax:UnificationXref:UNIPROT_Q03135,
urn:biopax:UnificationXref:UNIPROT_Q9UGP1,
urn:biopax:UnificationXref:UNIPROT_Q9UNG1,
urn:biopax:UnificationXref:UNIPROT_Q9UQH6
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biopax3:displayName |
CAV1_HUMAN
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biopax3:name |
CAV1
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biopax3:entityFeature |
urn:biopax:ModificationFeature:CAV1_HUMAN_1,
urn:biopax:ModificationFeature:CAV1_HUMAN_2,
urn:biopax:ModificationFeature:CAV1_HUMAN_3,
urn:biopax:ModificationFeature:CAV1_HUMAN_4,
urn:biopax:ModificationFeature:CAV1_HUMAN_5,
urn:biopax:ModificationFeature:CAV1_HUMAN_6,
urn:biopax:ModificationFeature:CAV1_HUMAN_7
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biopax3:organism | |
biopax3:sequence |
MSGGKYVDSEGHLYTVPIREQGNIYKPNNKAMADELSEKQVYDAHTKEIDLVNRDPKHLNDDVVKIDFEDVIAEPEGTHSFDGIWKASFTTFTVTKYWFYRLLSALFGIPMALIWGIYFAILSFLHIWAVVPCIKSFLIEIQCISRVYSIYVHTVCDPLFEAVGKIFSNVRINLQKEI
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biopax3:standardName |
Caveolin-1
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