DISEASES

Disease-gene associations mined from literature

Literature on CAV1

CAV1 [ENSP00000339191]

Caveolin-1; May act as a scaffolding protein within caveolar membranes . Forms a stable heterooligomeric complex with CAV2 that targets to lipid rafts and drives caveolae formation. Mediates the recruitment of CAVIN proteins (CAVIN1/2/3/4) to the caveolae . 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 (By similarity). Negatively regulates TGFB1-mediated activation of SMAD2/3 by mediating the internalization of TGFBR1 from membrane rafts leading to its subsequent degradation . ECO:0000269|PubMed:17287217, ECO:0000269|PubMed:19262564,

Synonyms:  CAV1,  CAV1p,  hCAV1,  A0A024R757,  C9JKI3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM