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CAV3 caveolin 3 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001234 Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $248.00 $199.00 10
NM_033337 Homo sapiens caveolin 3 (CAV3), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $248.00 $199.00 10

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Gene Symbol CAV3
Entrez Gene ID 859
Full Name caveolin 3
Synonyms LGMD1C, LQT9, VIP-21, VIP21
General protein information
Preferred Names
caveolin-3
Names
caveolin-3
M-caveolin
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

3

3p25

Summary 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].
Disorder

MIM: 601253

Muscular dystrophy, limb-girdle, type IC, 607801 (3); Rippling

mRNA Protein Product Sequence Price Select
NM_001234, 356582412 NP_001225, 4502589 caveolin-3 ORF Sequence $99.00
NM_033337, 299115915 NP_203123, 15451860 caveolin-3 ORF Sequence $99.00
KEGG
hsa04510Focal adhesion
hsa04144Endocytosis
hsa05100Bacterial invasion of epithelial cells
hsa05205Proteoglycans in cancer
WikiPathways
WP185Integrin-mediated cell adhesion
WP706SIDS Susceptibility Pathways
Pathway Interaction Database
pdgfrapathwayPDGFR-alpha signaling pathway
Homo sapiens (human)CAV3NP_203123.1
Pan troglodytes (chimpanzee)CAV3XP_001144093.2
Macaca mulatta (Rhesus monkey)CAV3XP_001097615.1
Canis lupus familiaris (dog)CAV3XP_541786.2
Bos taurus (cattle)CAV3NP_001040023.1
Mus musculus (house mouse)Cav3NP_031643.1
Rattus norvegicus (Norway rat)Cav3NP_062028.1
Gallus gallus (chicken)CAV3NP_989701.1
Danio rerio (zebrafish)cav3NP_991301.1
Xenopus (Silurana) tropicalis (western clawed frog)cav3.1NP_001096498.1
Process
IDNameEvidence
GO:0001778plasma membrane repairIEA
GO:0002027regulation of heart rateIMP
GO:0006469negative regulation of protein kinase activityISS
GO:0006641triglyceride metabolic processISS
GO:0006897endocytosisISS
GO:0007009plasma membrane organizationISS
GO:0007015actin filament organizationIEA
GO:0007204positive regulation of cytosolic calcium ion concentrationISS
GO:0007517muscle organ developmentTAS
GO:0007520myoblast fusionIEA
GO:0008016regulation of heart contractionISS
GO:0008104protein localizationISS
GO:0008284positive regulation of cell proliferationIEA
GO:0010614negative regulation of cardiac muscle hypertrophyIMP
GO:0010831positive regulation of myotube differentiationIEA
GO:0014819regulation of skeletal muscle contractionIMP
GO:0016049cell growthISS
GO:0017015regulation of transforming growth factor beta receptor signaling pathwayIEA
GO:0030154cell differentiationISS
GO:0031116positive regulation of microtubule polymerizationISS
GO:0031122cytoplasmic microtubule organizationIEA
GO:0031579membrane raft organizationISS
GO:0033292T-tubule organizationTAS
GO:0038009regulation of signal transduction by receptor internalizationIMP
GO:0042391regulation of membrane potentialIDA
GO:0042593glucose homeostasisISS
GO:0042632cholesterol homeostasisISS
GO:0043407negative regulation of MAP kinase activityIMP
GO:0043409negative regulation of MAPK cascadeISS
GO:0045792negative regulation of cell sizeIMP
GO:0046716muscle cell cellular homeostasisISS
GO:0051001negative regulation of nitric-oxide synthase activityISS
GO:0051394regulation of nerve growth factor receptor activityIMP
GO:0051647nucleus localizationIEA
GO:0051896regulation of protein kinase B signalingIEA
GO:0051926negative regulation of calcium ion transportIDA
GO:0055013cardiac muscle cell developmentIEA
GO:0055117regulation of cardiac muscle contractionIMP
GO:0060299negative regulation of sarcomere organizationIMP
GO:0060307regulation of ventricular cardiac muscle cell membrane repolarizationIMP
GO:0060347heart trabecula formationIEA
GO:0060373regulation of ventricular cardiac muscle cell membrane depolarizationIDA
GO:0060762regulation of branching involved in mammary gland duct morphogenesisIEA
GO:0061052negative regulation of cell growth involved in cardiac muscle cell developmentIEA
GO:0070836caveola assemblyIDA
GO:0072659protein localization to plasma membraneISS
GO:0086005ventricular cardiac muscle cell action potentialISS
GO:0090002establishment of protein localization to plasma membraneIEA
GO:0090279regulation of calcium ion importIDA
GO:1900744regulation of p38MAPK cascadeIEA
GO:1900825regulation of membrane depolarization during cardiac muscle cell action potentialIMP
GO:1901017negative regulation of potassium ion transmembrane transporter activityISS
GO:1901019regulation of calcium ion transmembrane transporter activityIDA
GO:1901380negative regulation of potassium ion transmembrane transportISS
GO:2000009negative regulation of protein localization to cell surfaceNAS
GO:2000060positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic processNAS
GO:2000649regulation of sodium ion transmembrane transporter activityIDA
GO:2001288positive regulation of caveolin-mediated endocytosisIEA
Component
IDNameEvidence
GO:0000139Golgi membraneIEA
GO:0005783endoplasmic reticulumIDA
GO:0005886plasma membraneIDA
GO:0005901caveolaIEA
GO:0009986cell surfaceIEA
GO:0016010dystrophin-associated glycoprotein complexIDA
GO:0030018Z discISS
GO:0030315T-tubuleISS
GO:0031594neuromuscular junctionISS
GO:0031982vesicleIEA
GO:0042383sarcolemmaIDA
GO:0045121membrane raftISS
Function
IDNameEvidence
GO:0005246calcium channel regulator activityIDA
GO:0005515protein bindingIPI
GO:0008022protein C-terminus bindingIDA
GO:0017080sodium channel regulator activityIDA
GO:0017080sodium channel regulator activityIMP
GO:0019870potassium channel inhibitor activityISS
GO:0032403protein complex bindingIDA
GO:0032947protein complex scaffoldIPI
GO:0032947protein complex scaffoldISS
GO:0043014alpha-tubulin bindingIEA
GO:0044325ion channel bindingIPI
GO:0050998nitric-oxide synthase bindingIEA
GO:0071253connexin bindingIDA
GeneCards CAV3
UniProt P56539
Vega OTTHUMG00000090519
MIM 601253
Ensembl ENSG00000182533
HGNC 1529
HPRD 03154

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the CAV3 gene?

The CAV3 gene provides instructions for making a protein called caveolin-3, which is found in the membrane surrounding muscle cells. This protein is the main component of caveolae, which are small pouches in the muscle cell membrane. Within the caveolae, the caveolin-3 protein acts as a scaffold to organize other molecules that are important for cell signaling and maintenance of the cell structure. These molecules include the proteins that make up sodium channels, which transport positively charged sodium atoms (sodium ions) into cells. Sodium channels play a key role in a cell's ability to generate and transmit electrical signals. In cardiac muscle, sodium channels are involved in maintaining the heart's normal rhythm. Caveolin-3 may also help regulate calcium levels in the muscle cell, which control muscle contraction and relaxation.

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