CAV1 : caveolin 1
Description
The CAV1 (caveolin 1) is a protein-coding gene located on chromosome 7.
The CAV1 gene provides instructions for making caveolin-1, a protein involved in various cellular functions. It forms caveolae, small pouches in the cell membrane that are crucial for molecule transport, processing, and storage of fats, particularly in adipocytes. Caveolin-1 regulates cell growth, division, differentiation, survival, and movement through various chemical signaling pathways. Its functions vary depending on the cell type and location within the cell.
Caveolin-1 acts as a scaffolding protein within caveolar membranes, forms a stable complex with CAV2, and recruits CAVIN proteins to caveolae. It interacts with G-protein alpha subunits, regulates their activity, and is involved in T-cell activation by binding to DPP4. It recruits CTNNB1 to caveolar membranes, may regulate Wnt signaling, and negatively regulates TGFβ1-mediated activation of SMAD2/3 by internalizing TGFBR1. It binds to 20(S)-hydroxycholesterol.
CAV1 is also known as BSCL3, CGL3, LCCNS, MSTP085, PPH3, VIP21.
Associated Diseases
- Lipodystrophy, familial partial, type 7
- Pulmonary hypertension, primary, 3
- Congenital generalized lipodystrophy
- Diffuse cutaneous systemic sclerosis
- Limited cutaneous systemic sclerosis
- Lipodystrophy, congenital generalized, type 3
- Pulmonary arterial hypertension
