Aliases for CAV1 Gene
External Ids for CAV1 Gene
Previous HGNC Symbols for CAV1 Gene
Previous GeneCards Identifiers for CAV1 Gene
The scaffolding protein encoded by this gene is the main 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 coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. 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. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]
GeneCards Summary for CAV1 Gene
CAV1 (Caveolin 1) is a Protein Coding gene. Diseases associated with CAV1 include Partial Lipodystrophy, Congenital Cataracts, And Neurodegeneration Syndrome and Lipodystrophy, Congenital Generalized, Type 3. Among its related pathways are Focal Adhesion and EGF/EGFR Signaling Pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and signaling receptor binding. An important paralog of this gene is CAV3.
UniProtKB/Swiss-Prot for CAV1 Gene
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 (PubMed:25893292). Mediates the recruitment of CAVIN proteins (CAVIN1/2/3/4) to the caveolae (PubMed:19262564).