CAV3

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 or rippling muscle disease (RMD). 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. [provided by RefSeq, Jul 2008]

Caveolin 3

May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. May also regulate voltage-gated potassium channels. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity).
Mediates the recruitment of CAVIN2 and CAVIN3 proteins to the caveolae (PubMed:19262564).

Actin filament organization Source: Ensembl
Cardiac muscle cell development Source: Ensembl
Caveola assembly Source: MGI
Cell differentiation Source: BHF-UCL
Cellular response to organonitrogen compound Source: Ensembl
Cholesterol homeostasis Source: BHF-UCL
Cytoplasmic microtubule organization Source: Ensembl
Detection of muscle stretch Source: BHF-UCL
Endocytosis Source: BHF-UCL
Glucose homeostasis Source: BHF-UCL
Heart trabecula formation Source: Ensembl
Membrane raft organization Source: BHF-UCL
Muscle cell cellular homeostasis Source: InterPro
Muscle contraction Source: Reactome
Muscle organ development Source: UniProtKB
Myoblast fusion Source: Ensembl
Negative regulation of calcium ion transport Source: MGI
Negative regulation of cardiac muscle hypertrophy Source: BHF-UCL
Negative regulation of cell growth involved in cardiac muscle cell development Source: Ensembl
Negative regulation of cell size Source: BHF-UCL
Negative regulation of MAPK cascade Source: BHF-UCL
Negative regulation of MAP kinase activity Source: BHF-UCL
Negative regulation of membrane depolarization during cardiac muscle cell action potential Source: Ensembl
Negative regulation of nitric-oxide synthase activity Source: BHF-UCL
Negative regulation of potassium ion transmembrane transport Source: BHF-UCL
Negative regulation of potassium ion transmembrane transporter activity Source: BHF-UCL
Negative regulation of protein kinase activity Source: BHF-UCL
Negative regulation of protein localization to cell surface Source: BHF-UCL
Negative regulation of sarcomere organization Source: BHF-UCL
Nucleus localization Source: Ensembl
Plasma membrane organization Source: BHF-UCL
Plasma membrane repair Source: Ensembl
Positive regulation of caveolin-mediated endocytosis Source: Ensembl
Positive regulation of cell population proliferation Source: Ensembl
Positive regulation of cytosolic calcium ion concentration Source: BHF-UCL
Positive regulation of microtubule polymerization Source: BHF-UCL
Positive regulation of myotube differentiation Source: Ensembl
Positive regulation of ubiquitin-dependent protein catabolic process Source: BHF-UCL
Protein localization Source: BHF-UCL
Protein localization to plasma membrane Source: BHF-UCL
Regulation of branching involved in mammary gland duct morphogenesis Source: Ensembl
Regulation of calcium ion import Source: BHF-UCL
Regulation of calcium ion transmembrane transporter activity Source: BHF-UCL
Regulation of cardiac muscle cell action potential involved in regulation of contraction Source: BHF-UCL
Regulation of cardiac muscle contraction Source: BHF-UCL
Regulation of cytosolic calcium ion concentration Source: GO_Central
Regulation of heart contraction Source: BHF-UCL
Regulation of heart rate Source: BHF-UCL
Regulation of membrane depolarization during cardiac muscle cell action potential Source: BHF-UCL
Regulation of membrane potential Source: BHF-UCL
Regulation of nerve growth factor receptor activity Source: MGI
Regulation of p38MAPK cascade Source: Ensembl
Regulation of protein kinase B signaling Source: Ensembl
Regulation of signal transduction by receptor internalization Source: MGI
Regulation of skeletal muscle contraction Source: BHF-UCL
Regulation of sodium ion transmembrane transporter activity Source: BHF-UCL
Regulation of transforming growth factor beta receptor signaling pathway Source: Ensembl
Regulation of ventricular cardiac muscle cell membrane depolarization Source: BHF-UCL
Regulation of ventricular cardiac muscle cell membrane repolarization Source: BHF-UCL
Triglyceride metabolic process Source: BHF-UCL
T-tubule organization Source: BHF-UCL
Ventricular cardiac muscle cell action potential Source: BHF-UCL

Cell membrane; Sarcolemma; Golgi apparatus membrane; Caveola. Potential hairpin-like structure in the membrane. Membrane protein of caveolae (By similarity).

HyperCKmia (HYPCK): Characterized by persistent elevated levels of serum creatine kinase without muscle weakness.
Rippling muscle disease 2 (RMD2): A disorder characterized by mechanically triggered contractions of skeletal muscle. Mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers and cause visible ripples to move over the muscle. RMD2 inheritance is autosomal dominant or autosomal recessive.
Cardiomyopathy, familial hypertrophic (CMH): A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
Long QT syndrome 9 (LQT9): A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.
Sudden infant death syndrome (SIDS): SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive.
Myopathy, distal, Tateyama type (MPDT): A disorder characterized by progressive muscular atrophy and muscle weakness beginning in the hands, the legs, or the feet. Muscle atrophy may be restricted to the small muscles of the hands and feet.

Cytoplasmic: 1-83
Helical: 84-104
Cytoplasmic: 105-151

Sumoylation with SUMO3 by PIAS4 may reduce agonist-induced internalization and desensitization of adrenergic receptor ABRD2.