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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
    NEW
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    Try the new Transcript table

    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)