LMPD Database

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LMP003385

UniProt Annotations

Entry Information
Gene Namecaveolin 1, caveolae protein, 22kDa
Protein EntryQ2TNI1_HUMAN
UniProt IDQ7Z4F3
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
DiseasePartial lipodystrophy, congenital cataracts, and neurodegeneration syndrome (LCCNS) [MIM
DiseasePulmonary hypertension, primary, 3 (PPH3) [MIM
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
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
PtmThe initiator methionine for isoform 2 is removed during or just after translation. The new N-terminal amino acid is then N- acetylated. {ECO
SimilarityBelongs to the caveolin family.
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
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";