DefinitionThis section has been translated automatically.
CAV1 (caveolin 1) is a protein-coding gene located on chromosome 7q31. Alternatively spliced transcripts encode the alpha and beta isoforms of caveolin 1. An important paralog of this gene is CAV3.
General informationThis section has been translated automatically.
The scaffold protein encoded by this gene is the major component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in the coupling of integrins to the Ras-ERK signaling pathway and the promotion of cell cycle progression. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex.
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PathophysiologyThis section has been translated automatically.
The gene is a candidate for a tumor suppressor gene and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade.
May function as a scaffolding protein within caveolar membranes. Forms a stable heterooligomeric complex with CAV2 that targets lipid rafts and drives caveolae formation (Vargas L et al. 2002).
Mediates the recruitment of CAVIN proteins (CAVIN1/2/3/4) into the caveolae.
Interacts directly with G-protein alpha subunits and can functionally regulate their activity
Is involved in costimulatory signaling, which is 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 (Ohnuma K et al. 2007).
Negatively regulates TGFB1-mediated activation of SMAD2/3 by mediating internalization of TGFBR1 from membrane rafts, leading to its subsequent degradation (Hwangbo C et al. 2016).
Clinical pictureThis section has been translated automatically.
Diseases associated with CAV1 include:
- Pulmonary hypertension, primary, type 3
- Congenital generalized lipodystrophy, type 3 (Berardinelli-Seip congenital lipodystrophy).
LiteratureThis section has been translated automatically.
- Hwangbo C et al. (2016) Syntenin regulates TGF-β1-induced Smad activation and the epithelial-to-mesenchymal transition by inhibiting caveolin-mediated TGF-β type I receptor internalization. Oncogene 35:389-401.
- Ohnuma K et al. (2007) Caveolin-1 triggers T-cell activation via CD26 in association with CARMA1. J Biol Chem 282:10117-10131).
- Vargas L et al. (2002) Functional interaction of caveolin-1 with Bruton's tyrosine kinase and Bmx. J Biol Chem 277:9351-9357.
