Caveolin 3

CAV3

Identifiers

CAV3, LGMD1C, LQT9, VIP-21, VIP21, caveolin 3

External IDs

OMIM: 601253 MGI: 107570 HomoloGene: 7255 GeneCards: CAV3

Gene ontology
Molecular function	• ion channel binding • protein complex binding • protein C-terminus binding • nitric-oxide synthase binding • enzyme binding • potassium channel inhibitor activity • calcium channel regulator activity • protein binding • protein complex scaffold • sodium channel regulator activity • connexin binding • alpha-tubulin binding
Cellular component	• cytoplasm • membrane • T-tubule • dystrophin-associated glycoprotein complex • cell surface • Z disc • endoplasmic reticulum • membrane raft • Golgi apparatus • intracellular membrane-bounded organelle • intercalated disc • neuromuscular junction • plasma membrane • protein complex • vesicle • Golgi membrane • sarcolemma • caveola
Biological process	• myotube differentiation • muscle contraction • regulation of heart contraction • muscle cell cellular homeostasis • negative regulation of cardiac muscle hypertrophy • negative regulation of membrane depolarization during cardiac muscle cell action potential • regulation of membrane potential • muscle organ development • regulation of calcium ion import • plasma membrane repair • regulation of signaling • membrane raft organization • regulation of sodium ion transmembrane transporter activity • positive regulation of microtubule polymerization • cholesterol homeostasis • triglyceride metabolic process • negative regulation of cell size • regulation of skeletal muscle contraction • T-tubule organization • regulation of ventricular cardiac muscle cell membrane depolarization • heart trabecula formation • glucose homeostasis • actin filament organization • cardiac muscle cell development • regulation of branching involved in mammary gland duct morphogenesis • ventricular cardiac muscle cell action potential • detection of muscle stretch • regulation of signal transduction by receptor internalization • cell growth • negative regulation of cell growth involved in cardiac muscle cell development • negative regulation of MAP kinase activity • cytoplasmic microtubule organization • regulation of nerve growth factor receptor activity • regulation of protein kinase B signaling • negative regulation of potassium ion transmembrane transport • regulation of p38MAPK cascade • protein localization to plasma membrane • plasma membrane organization • regulation of membrane depolarization during cardiac muscle cell action potential • negative regulation of sarcomere organization • cell differentiation • negative regulation of protein kinase activity • nucleus localization • regulation of heart rate • negative regulation of protein localization to cell surface • positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process • negative regulation of MAPK cascade • myoblast fusion • regulation of calcium ion transmembrane transporter activity • protein localization • positive regulation of myotube differentiation • positive regulation of caveolin-mediated endocytosis • regulation of calcium ion transport • endocytosis • negative regulation of nitric-oxide synthase activity • caveola assembly • positive regulation of cytosolic calcium ion concentration • regulation of transforming growth factor beta receptor signaling pathway • negative regulation of potassium ion transmembrane transporter activity • positive regulation of cell proliferation • negative regulation of calcium ion transport • regulation of cardiac muscle contraction • establishment of protein localization to plasma membrane • regulation of ventricular cardiac muscle cell membrane repolarization • regulation of cardiac muscle cell action potential involved in regulation of contraction
Sources:Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

Entrez


859


12391

Ensembl


ENSG00000182533


ENSMUSG00000062694

UniProt


P56539


P51637

RefSeq (mRNA)


NM_033337 NM_001234


NM_007617

RefSeq (protein)


NP_001225 NP_203123


NP_031643.1 NP_031643

Location (UCSC)

Chr 3: 8.73 – 8.84 Mb

Chr 6: 112.46 – 112.47 Mb

PubMed search

NP_031643.1
NP_031643

Caveolin-3 is a protein that in humans is encoded by the CAV3 gene. Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites.

This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules.

Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), HyperCKemia, distal myopathy or rippling muscle disease (RMD). Other mutations in Caveolin causes Long QT Syndrome or familial hypertrophic cardiomyopathy, although the role of Cav3 in Long QT syndrome has recently been disputed.

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