InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CAV3

Summary

InnateDB Protein

IDBP-14825.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CAV3

Protein Name

caveolin 3

Synonyms

LGMD1C; LQT9; VIP-21; VIP21;

Species

Homo sapiens

Ensembl Protein

ENSP00000341940

InnateDB Gene

IDBG-14821 (CAV3)

Protein Structure

UniProt Annotation

Function

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.

Subcellular Localization

Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Membrane, caveola {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=Potential hairpin-like structure in the membrane. Membrane protein of caveolae (By similarity). {ECO:0000250}.

Disease Associations

Limb-girdle muscular dystrophy 1C (LGMD1C) [MIM:607801]: A degenerative myopathy characterized by calf hypertrophy and mild to moderate proximal muscle weakness. Inheritance can be autosomal dominant or recessive. {ECO:0000269PubMed:11001938, ECO:0000269PubMed:11532985, ECO:0000269PubMed:12557291, ECO:0000269PubMed:12939441, ECO:0000269PubMed:15564037, ECO:0000269PubMed:15580566, ECO:0000269PubMed:9537420}. Note=The disease is caused by mutations affecting the gene represented in this entry.HyperCKmia (HYPCK) [MIM:123320]: Characterized by persistent elevated levels of serum creatine kinase without muscle weakness. {ECO:0000269PubMed:10746614, ECO:0000269PubMed:12082049, ECO:0000269PubMed:14663034, ECO:0000269PubMed:15099591, ECO:0000269PubMed:15580566}. Note=The disease is caused by mutations affecting the gene represented in this entry.Rippling muscle disease (RMD) [MIM:606072]: Rare disorder characterized by mechanically triggered contractions of skeletal muscle. In RMD, mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers that cause visible ripples to move over the muscle. {ECO:0000269PubMed:11431690, ECO:0000269PubMed:11756609, ECO:0000269PubMed:12557291, ECO:0000269PubMed:12666119, ECO:0000269PubMed:15668980, ECO:0000269PubMed:16458928}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, familial hypertrophic (CMH) [MIM:192600]: 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. {ECO:0000269PubMed:14672715}. Note=The disease is caused by mutations affecting the gene represented in this entry.Long QT syndrome 9 (LQT9) [MIM:611818]: 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. {ECO:0000269PubMed:17060380, ECO:0000269PubMed:17275750}. Note=The disease is caused by mutations affecting the gene represented in this entry.Sudden infant death syndrome (SIDS) [MIM:272120]: 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Myopathy, distal, Tateyama type (MPDT) [MIM:614321]: 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. {ECO:0000269PubMed:11805270, ECO:0000269PubMed:15580566}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed predominantly in muscle. {ECO:0000269PubMed:9545514}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.

Experimentally validated
Total	21 [view]
Protein-Protein	21 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	10 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005246	calcium channel regulator activity
GO:0005515	protein binding
GO:0008022	protein C-terminus binding
GO:0017080	sodium channel regulator activity
GO:0019870	potassium channel inhibitor activity
GO:0019899	enzyme binding
GO:0032403	protein complex binding
GO:0032947	protein complex scaffold
GO:0043014	alpha-tubulin binding
GO:0044325	ion channel binding
GO:0050998	nitric-oxide synthase binding
GO:0071253	connexin binding

Biological Process

GO:0001778	plasma membrane repair
GO:0002027	regulation of heart rate
GO:0006469	negative regulation of protein kinase activity
GO:0006641	triglyceride metabolic process
GO:0006897	endocytosis
GO:0007009	plasma membrane organization
GO:0007015	actin filament organization
GO:0007204	positive regulation of cytosolic calcium ion concentration
GO:0007517	muscle organ development
GO:0007520	myoblast fusion
GO:0008016	regulation of heart contraction
GO:0008104	protein localization
GO:0008284	positive regulation of cell proliferation
GO:0010614	negative regulation of cardiac muscle hypertrophy
GO:0010831	positive regulation of myotube differentiation
GO:0014819	regulation of skeletal muscle contraction
GO:0014902	myotube differentiation
GO:0016049	cell growth
GO:0017015	regulation of transforming growth factor beta receptor signaling pathway
GO:0030154	cell differentiation
GO:0031116	positive regulation of microtubule polymerization
GO:0031122	cytoplasmic microtubule organization
GO:0031579	membrane raft organization
GO:0033292	T-tubule organization
GO:0038009	regulation of signal transduction by receptor internalization
GO:0042391	regulation of membrane potential
GO:0042593	glucose homeostasis
GO:0042632	cholesterol homeostasis
GO:0043407	negative regulation of MAP kinase activity
GO:0043409	negative regulation of MAPK cascade
GO:0045792	negative regulation of cell size
GO:0046716	muscle cell cellular homeostasis
GO:0051001	negative regulation of nitric-oxide synthase activity
GO:0051394	regulation of nerve growth factor receptor activity
GO:0051647	nucleus localization
GO:0051896	regulation of protein kinase B signaling
GO:0051924	regulation of calcium ion transport
GO:0051926	negative regulation of calcium ion transport
GO:0055013	cardiac muscle cell development
GO:0055117	regulation of cardiac muscle contraction
GO:0060299	negative regulation of sarcomere organization
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization
GO:0060347	heart trabecula formation
GO:0060373	regulation of ventricular cardiac muscle cell membrane depolarization
GO:0060762	regulation of branching involved in mammary gland duct morphogenesis
GO:0061052	negative regulation of cell growth involved in cardiac muscle cell development
GO:0070836	caveola assembly
GO:0072659	protein localization to plasma membrane
GO:0086005	ventricular cardiac muscle cell action potential
GO:0090002	establishment of protein localization to plasma membrane
GO:0090279	regulation of calcium ion import
GO:1900744	regulation of p38MAPK cascade
GO:1900825	regulation of membrane depolarization during cardiac muscle cell action potential
GO:1901017	negative regulation of potassium ion transmembrane transporter activity
GO:1901019	regulation of calcium ion transmembrane transporter activity
GO:1901380	negative regulation of potassium ion transmembrane transport
GO:2000009	negative regulation of protein localization to cell surface
GO:2000060	positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
GO:2000649	regulation of sodium ion transmembrane transporter activity
GO:2001288	positive regulation of caveolin-mediated endocytosis

Cellular Component

GO:0000139	Golgi membrane
GO:0005737	cytoplasm
GO:0005783	endoplasmic reticulum
GO:0005886	plasma membrane
GO:0005901	caveola
GO:0009986	cell surface
GO:0014704	intercalated disc
GO:0016010	dystrophin-associated glycoprotein complex
GO:0016020	membrane
GO:0030018	Z disc
GO:0030315	T-tubule
GO:0031594	neuromuscular junction
GO:0031982	vesicle
GO:0042383	sarcolemma
GO:0043234	protein complex
GO:0045121	membrane raft