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Cav3 caveolin 3 [ Mus musculus (house mouse) ]

Gene ID: 12391, updated on 9-Dec-2024

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
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Genomic context

See Cav3 in Genome Data Viewer
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_000072.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 38873 Neighboring gene 60S ribosomal protein L23a pseudogene Neighboring gene STARR-seq mESC enhancer starr_17017 Neighboring gene predicted gene, 53304 Neighboring gene predicted gene, 35649 Neighboring gene oxytocin receptor Neighboring gene predicted gene, 35706

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (7) 
  • Targeted (3)  1 citation

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 IEA
Inferred from Electronic Annotation
more info
 
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 IEA
Inferred from Electronic Annotation
more info
 
enables molecular adaptor activity ISO
Inferred from Sequence Orthology
more info
 
enables nitric-oxide synthase binding IEA
Inferred from Electronic Annotation
more info
 
enables nitric-oxide synthase binding ISO
Inferred from Sequence Orthology
more info
 
enables potassium channel inhibitor activity IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
more info
 
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
enables sodium channel regulator activity IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
more info
 
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 IEA
Inferred from Electronic Annotation
more info
 
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 IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of caveolin-mediated endocytosis ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of cell population proliferation IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
more info
 
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 IEA
Inferred from Electronic Annotation
more info
 
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 IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of skeletal muscle contraction ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
more info
 
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 IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of ventricular cardiac muscle cell membrane repolarization ISO
Inferred from Sequence Orthology
more info
 
involved_in response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
involved_in response to ischemia IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
more info
 
involved_in ventricular cardiac muscle cell action potential ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in Golgi membrane 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
 
located_in Z disc IEA
Inferred from Electronic Annotation
more info
 
located_in 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 
located_in caveola ISO
Inferred from Sequence Orthology
more info
 
located_in cell surface IEA
Inferred from Electronic Annotation
more info
 
located_in cell surface ISO
Inferred from Sequence Orthology
more info
 
part_of dystrophin-associated glycoprotein complex IEA
Inferred from Electronic Annotation
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
 
located_in intercalated disc IEA
Inferred from Electronic Annotation
more info
 
located_in 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 IEA
Inferred from Electronic Annotation
more info
 
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 
located_in sarcolemma ISO
Inferred from Sequence Orthology
more info
 
located_in vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in vesicle ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
caveolin-3
Names
M-caveolin

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

mRNA and Protein(s)

  1. NM_007617.3NP_031643.1  caveolin-3

    See identical proteins and their annotated locations for NP_031643.1

    Status: REVIEWED

    Source sequence(s)
    AA434625, AC153594, AI385751, CJ057698
    Consensus CDS
    CCDS20406.1
    UniProtKB/Swiss-Prot
    P51637
    Related
    ENSMUSP00000074922.7, ENSMUST00000075477.8
    Conserved Domains (1) summary
    pfam01146
    Location:17148
    Caveolin; Caveolin

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000072.7 Reference GRCm39 C57BL/6J

    Range
    112436466..112449833
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)