Short name: CAV-3
- Caveolin (IPR001612)
- Caveolin-3 (IPR031091)
Caveolae are 50-100 nm invaginations located at the plasma membrane of many cell types and are known to transport molecules across endothelial cells [PMID: 9759488]. Caveolae require the caveolin protein for formation. Caveolins may act as scaffolding proteins within caveolar membranes by compartmentalizing and concentrating signalling molecules. Mammals have three caveolin proteins:caveolin-1 (Cav-1, or VIP21), caveolin-2 and caveolin-3 (or M-caveolin). Various classes of signalling molecules, including G-protein subunits, receptor and non-receptor tyrosine kinases, endothelial nitric oxide synthase (eNOS), and small GTPases, bind Cav-1 through its 'caveolin-scaffolding domain' [PMID: 23028656].
Caveolins are proteins of about 20 Kd, they form high molecular mass homo-oligomers. Structurally they seem to have N-terminal and C-terminal hydrophilic segments and a long central transmembrane domain that probably forms a hairpin in the membrane. Both extremities are known to face the cytoplasm. Caveolae are enriched with cholesterol and Cav-1 is one of the few proteins that binds cholesterol tightly and specifically.
Caveolin-3 is both an anchoring protein for molecules within caveolae and a regulatory element for protein signalling activity [PMID: 15383654]. Human caveolin-3 is muscle specific, and several mutations in the caveolin-3 gene are associated with muscle pathologies including rippling muscle disease (RMD), limb-girdle muscular dystrophy (LGMD) type 1C, distal myopathy and hyperCkemia [PMID: 17629760, PMID: 19380584, PMID: 11115849, PMID: 14600260, PMID: 19351512, PMID: 17060380, PMID: 17275750]. Caveolin-3 is associated with the trafficking of dysferlin, a protein known to be involved in muscular dystrophy diseases and dystrophin, a protein which leads to muscular dystrophy when defective [PMID: 17629760].
Caveolin-3 is also an enhancer of insulin signalling in skeletal muscle [PMID: 15314230]. It regulates Ca(V)3.2 Ca2+ channels [PMID: 21084288] and hERG channels [PMID: 22879586]. Caveolin-3 may participate in B-cell expression, T-cell cytokine production and activation of inflammation [PMID: 25476831].
- PTHR10844:SF16 (PTHR10844:SF16)