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MGP000426

UniProt Annotations

Entry Information
Gene Namecaveolin 1, caveolae protein, 22kDa
Protein Entry
UniProt IDQ2TNI1
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative initiation; Named isoforms=2; Name=1; IsoId=Q03135-1; Sequence=Displayed; Name=2; IsoId=Q03135-2; Sequence=VSP_018692; Note=Initiator Met-1 is removed. Contains a N-acetylalanine at position 2. Contains a phosphoserine at position 6.;
DiseaseCongenital generalized lipodystrophy 3 (CGL3) [MIM:612526]: An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. {ECO:0000269|PubMed:18211975}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseasePartial lipodystrophy, congenital cataracts, and neurodegeneration syndrome (LCCNS) [MIM:606721]: A form of familial partial lipodystrophy associated with congenital cataracts and neurodegeneration leading to cerebellar and spinal cord dysfunction. {ECO:0000269|PubMed:18237401}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseasePulmonary hypertension, primary, 3 (PPH3) [MIM:615343]: A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. {ECO:0000269|PubMed:22474227}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionMay 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. {ECO:0000250, ECO:0000269|PubMed:11751885, ECO:0000269|PubMed:17287217}.
InteractionO70239:Axin1 (xeno); NbExp=5; IntAct=EBI-603614, EBI-6857773; P55957:BID; NbExp=3; IntAct=EBI-603614, EBI-519672; P00533:EGFR; NbExp=5; IntAct=EBI-603614, EBI-297353; P25116:F2R; NbExp=3; IntAct=EBI-603614, EBI-2803960; P25445:FAS; NbExp=3; IntAct=EBI-603614, EBI-494743; Q03160:Grb7 (xeno); NbExp=3; IntAct=EBI-603614, EBI-7100053; P41134:ID1; NbExp=6; IntAct=EBI-603614, EBI-1215527; O75581:LRP6; NbExp=3; IntAct=EBI-603614, EBI-910915; Q07820:MCL1; NbExp=3; IntAct=EBI-603614, EBI-1003422; P04150:NR3C1; NbExp=2; IntAct=EBI-603614, EBI-493507; P18031:PTPN1; NbExp=5; IntAct=EBI-603614, EBI-968788; P22307:SCP2; NbExp=3; IntAct=EBI-603614, EBI-1050999; Q16881:TXNRD1; NbExp=4; IntAct=EBI-603614, EBI-716617;
PtmPhosphorylated at Tyr-14 by ABL1 in response to oxidative stress. {ECO:0000269|PubMed:12531427, ECO:0000269|PubMed:15219854, ECO:0000269|PubMed:18669648, ECO:0000269|PubMed:19369195, ECO:0000269|PubMed:20068231, ECO:0000269|PubMed:21406692, ECO:0000269|PubMed:8632005}.
PtmThe initiator methionine for isoform 2 is removed during or just after translation. The new N-terminal amino acid is then N- acetylated. {ECO:0000269|PubMed:15219854, ECO:0000269|PubMed:19608861, ECO:0000269|PubMed:22814378}.
SimilarityBelongs to the caveolin family. {ECO:0000305}.
Subcellular LocationGolgi 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.
SubunitHomooligomer. Interacts with GLIPR2, NOSTRIN, SNAP25 and STX1A. Interacts with rotavirus A NSP4. Interacts (via the N- terminus) with DPP4; the interaction is direct. Interacts with CTNNB1, CDH1 and JUP. Interacts with PACSIN2. Interacts with SLC7A9 (By similarity). Interacts with BMX and BTK. {ECO:0000250, ECO:0000269|PubMed:11751885, ECO:0000269|PubMed:11865038, ECO:0000269|PubMed:16501093, ECO:0000269|PubMed:16807357, ECO:0000269|PubMed:17287217}.
Tissue SpecificityExpressed in muscle and lung, less so in liver, brain and kidney.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CAV1ID932ch7q31.html";
Web ResourceName=Wikipedia; Note=Caveolin entry; URL="http://en.wikipedia.org/wiki/Caveolin";
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