Cav3 caveolin 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cav3provided by MGI
Official Full Name: caveolin 3provided by MGI
Primary source: MGI:MGI:107570
See related: Ensembl:ENSMUSG00000062694 AllianceGenome:MGI:107570
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cav-3; M-cav
Summary: This gene belongs to the caveolin family whose members encode the major protein components of caveolae, which are invaginations of plasma membrane. The encoded protein is muscle-specific and forms homooligomers in muscle cells. The protein binds and regulates phosphofructokinase M and neuronal nitric oxide synthase. It also associates with dystrophin in muscle cells. Mutations in this gene are associated with muscular dystrophy. [provided by RefSeq, Apr 2013]
Expression: Biased expression in heart adult (RPKM 48.7), limb E14.5 (RPKM 10.8) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 E3; 6 52.26 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (112436466..112449833)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (112459505..112472872)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cav3.2 T-Type Calcium Channel Mediates Acute Itch and Contributes to Chronic Itch and Inflammation in Experimental Atopic Dermatitis.
Title: Cav3.2 T-Type Calcium Channel Mediates Acute Itch and Contributes to Chronic Itch and Inflammation in Experimental Atopic Dermatitis.
Caveolin-3 and Caveolae regulate ventricular repolarization.
Title: Caveolin-3 and Caveolae regulate ventricular repolarization.
ANKRD1 activates the Wnt signaling pathway by modulating CAV3 expression and thus promotes BMSC osteogenic differentiation and bone formation in ovariectomized mice.
Title: ANKRD1 activates the Wnt signaling pathway by modulating CAV3 expression and thus promotes BMSC osteogenic differentiation and bone formation in ovariectomized mice.
Nitrative Modification of Caveolin-3: A Novel Mechanism of Cardiac Insulin Resistance and a Potential Therapeutic Target Against Ischemic Heart Failure in Prediabetic Animals.
Title: Nitrative Modification of Caveolin-3: A Novel Mechanism of Cardiac Insulin Resistance and a Potential Therapeutic Target Against Ischemic Heart Failure in Prediabetic Animals.
Caveolin 3 suppresses phosphorylation-dependent activation of sarcolemmal nNOS.
Title: Caveolin 3 suppresses phosphorylation-dependent activation of sarcolemmal nNOS.
Caveolin-3 regulates the activity of Ca(2+)/calmodulin-dependent protein kinase II in C2C12 cells.
Title: Caveolin-3 regulates the activity of Ca(2+)/calmodulin-dependent protein kinase II in C2C12 cells.
The nuclear receptor RORalpha preserves cardiomyocyte mitochondrial function by regulating caveolin-3-mediated mitophagy.
Title: The nuclear receptor RORα preserves cardiomyocyte mitochondrial function by regulating caveolin-3-mediated mitophagy.
Caveolin-3 deficiency associated with the dystrophy P104L mutation impairs skeletal muscle mitochondrial form and function.
Title: Caveolin-3 deficiency associated with the dystrophy P104L mutation impairs skeletal muscle mitochondrial form and function.
Global genetic deletion of CaV3.3 channels facilitates anaesthetic induction and enhances isoflurane-sparing effects of T-type calcium channel blockers.
Title: Global genetic deletion of Ca(V)3.3 channels facilitates anaesthetic induction and enhances isoflurane-sparing effects of T-type calcium channel blockers.
Cardiac-Specific Caveolin-3 Overexpression Prevents Post-Myocardial Infarction Ventricular Arrhythmias by Inhibiting Ryanodine Receptor-2 Hyperphosphorylation.
Title: Cardiac-Specific Caveolin-3 Overexpression Prevents Post-Myocardial Infarction Ventricular Arrhythmias by Inhibiting Ryanodine Receptor-2 Hyperphosphorylation.

Submit: New GeneRIF Correction See all GeneRIFs (83)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (6)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI385751 (e-PCR)
- UniSTS:159555

NoName (e-PCR)
- UniSTS:235518

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables alpha-tubulin binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium channel regulator activity	ISO Inferred from Sequence Orthology more info
enables connexin binding	IPI Inferred from Physical Interaction more info	PubMed
enables connexin binding	ISO Inferred from Sequence Orthology more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables molecular adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables molecular adaptor activity	ISO Inferred from Sequence Orthology more info
enables nitric-oxide synthase binding	ISO Inferred from Sequence Orthology more info
enables potassium channel inhibitor activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables sodium channel regulator activity	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within actin filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of calcium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of cardiac muscle hypertrophy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in caveola assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within caveola assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within caveola assembly	ISO Inferred from Sequence Orthology more info
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cholesterol homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cytoplasmic microtubule organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detection of muscle stretch	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endocytosis	TAS Traceable Author Statement more info	PubMed
acts_upstream_of establishment of localization in cell	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of localization in cell	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glucose homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart trabecula formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within membrane raft organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within myoblast fusion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of myotube differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within myotube differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of MAP kinase activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of calcium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of calcium ion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of cardiac muscle hypertrophy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cardiac muscle hypertrophy	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell growth involved in cardiac muscle cell development	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell size	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of membrane depolarization during cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of nitric-oxide synthase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of potassium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of protein kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of sarcomere organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within nucleus localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within plasma membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within plasma membrane repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of caveolin-mediated endocytosis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cytosolic calcium ion concentration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of microtubule polymerization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of myotube differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of branching involved in mammary gland duct morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of calcium ion import	ISO Inferred from Sequence Orthology more info
involved_in regulation of calcium ion transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of calcium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cardiac muscle cell action potential involved in regulation of contraction	ISO Inferred from Sequence Orthology more info
involved_in regulation of cardiac muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in regulation of cytosolic calcium ion concentration	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of heart rate	ISO Inferred from Sequence Orthology more info
involved_in regulation of membrane depolarization during cardiac muscle cell action potential	ISO Inferred from Sequence Orthology more info
involved_in regulation of membrane potential	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of membrane potential	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of membrane potential	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of nerve growth factor receptor activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of p38MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of signal transduction by receptor internalization	ISO Inferred from Sequence Orthology more info
involved_in regulation of skeletal muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in regulation of sodium ion transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of transforming growth factor beta receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of ventricular cardiac muscle cell membrane depolarization	ISO Inferred from Sequence Orthology more info
involved_in regulation of ventricular cardiac muscle cell membrane repolarization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within triglyceride metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventricular cardiac muscle cell action potential	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in T-tubule	IDA Inferred from Direct Assay more info	PubMed
located_in T-tubule	ISO Inferred from Sequence Orthology more info
colocalizes_with Z disc	ISO Inferred from Sequence Orthology more info
colocalizes_with caveola	IBA Inferred from Biological aspect of Ancestor more info
located_in caveola	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with caveola	ISO Inferred from Sequence Orthology more info
located_in caveola	ISO Inferred from Sequence Orthology more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
part_of dystrophin-associated glycoprotein complex	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info	PubMed
colocalizes_with focal adhesion	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with intercalated disc	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in neuromuscular junction	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
colocalizes_with sarcolemma	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with sarcolemma	ISO Inferred from Sequence Orthology more info
located_in sarcolemma	ISO Inferred from Sequence Orthology more info
located_in vesicle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: caveolin-3

Names: M-caveolin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.