Disease-gene associations mined from literature

Literature associating CAV1 and pulmonary hypertension

CAV1 [ENSP00000339191]

Caveolin 1, caveolae protein, 22kDa; 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. Negatively regulates TGFB1-mediated activation of SMAD2/3 by mediating the internalization of TGFBR1 from membrane rafts leading to its subsequent degradation. Mediates the recruitment of CAVIN proteins (CAVIN1/2/3/4) to the caveolae; Belongs to the caveolin family.

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

Linkouts:  STRING  Pharos  UniProt  OMIM