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CAV3 caveolin 3 [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu21738 NM_001234 Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu21738 NM_033337 Homo sapiens caveolin 3 (CAV3), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu21738C NM_001234 Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA. Customized vector In-stock 5-7 $149.00
OHu21738C NM_033337 Homo sapiens caveolin 3 (CAV3), transcript variant 1, mRNA. Customized vector In-stock 5-7 $149.00

*Business Day

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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?

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