CPATH-1482

cpath:CPATH-LOCAL-6819, cpath:CPATH-LOCAL-6819, cpath:CPATH-LOCAL-6819, cpath:CPATH-LOCAL-6820, cpath:CPATH-LOCAL-6820, cpath:CPATH-LOCAL-6820, cpath:CPATH-LOCAL-6821, cpath:CPATH-LOCAL-6821, cpath:CPATH-LOCAL-6821, cpath:CPATH-LOCAL-6822, cpath:CPATH-LOCAL-6822, cpath:CPATH-LOCAL-6822, cpath:CPATH-LOCAL-6823, cpath:CPATH-LOCAL-6823, cpath:CPATH-LOCAL-6823, cpath:CPATH-LOCAL-6824, cpath:CPATH-LOCAL-6824, cpath:CPATH-LOCAL-6824, cpath:CPATH-LOCAL-6825, cpath:CPATH-LOCAL-6825, cpath:CPATH-LOCAL-6825, cpath:CPATH-LOCAL-9875, cpath:CPATH-LOCAL-9875, cpath:CPATH-LOCAL-9875

CAV1_HUMAN, CAV1_HUMAN, CAV1_HUMAN

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). 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: CAV. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License., 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). 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: CAV. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License., 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). 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: CAV. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.

entrez-gene:857