Homo sapiens Gene: CAV3
Summary
InnateDB Gene IDBG-14821.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CAV3
Gene Name caveolin 3
Synonyms LGMD1C; LQT9; VIP-21; VIP21;
Species Homo sapiens
Ensembl Gene ENSG00000182533
Encoded Proteins
caveolin 3
caveolin 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:8733800-8841808
Strand Forward strand
Band p25.3
Transcripts
ENST00000343849 ENSP00000341940
ENST00000397368 ENSP00000380525
ENST00000472766
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Endocytosis pathway
Focal adhesion pathway
Bacterial invasion of epithelial cells pathway
INOH
PID BIOCARTA
PID NCI
PDGFR-alpha signaling pathway
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.98303
RefSeq NM_001234 NM_033337
HUGO
OMIM
CCDS CCDS2569
HPRD 03154
IMGT
EMBL
GenPept
RNA Seq Atlas