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    CAV3 caveolin 3 [ Homo sapiens (human) ]

    Gene ID: 859, updated on 23-Nov-2023

    Summary

    Official Symbol
    CAV3provided by HGNC
    Official Full Name
    caveolin 3provided by HGNC
    Primary source
    HGNC:HGNC:1529
    See related
    Ensembl:ENSG00000182533 MIM:601253; AllianceGenome:HGNC:1529
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LQT9; MPDT; RMD2; VIP21; LGMD1C; VIP-21
    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]
    Expression
    Biased expression in heart (RPKM 7.8), esophagus (RPKM 2.8) and 1 other tissue See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CAV3 in Genome Data Viewer
    Location:
    3p25.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (8733802..8746758)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (8724971..8737928)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (8775488..8788444)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:8664536-8665156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19390 Neighboring gene ssu-2 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19393 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14028 Neighboring gene olfactory receptor family 7 subfamily E member 122 pseudogene Neighboring gene MPRA-validated peak4531 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr3:8765327-8765828 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:8808751-8809422 Neighboring gene oxytocin receptor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14029 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:8810095-8810766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19394 Neighboring gene uncharacterized LOC107986061 Neighboring gene uncharacterized LOC107984112

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC126100, MGC126101, MGC126129

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-tubulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables calcium channel regulator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables connexin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables connexin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables molecular adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables molecular adaptor activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables nitric-oxide synthase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables potassium channel inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sodium channel regulator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sodium channel regulator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 
    Process Evidence Code Pubs
    involved_in MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in T-tubule organization TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in actin filament organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac muscle cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac muscle hypertrophy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in caveola assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within caveola assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to organonitrogen compound IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cholesterol homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cytoplasmic microtubule organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in detection of muscle stretch ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glucose homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heart trabecula formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in membrane raft organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in muscle organ development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in myoblast fusion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of MAP kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of MAPK cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within negative regulation of calcium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cardiac muscle hypertrophy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 size IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of membrane depolarization during cardiac muscle cell action potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of nitric-oxide synthase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of potassium ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of potassium ion transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of protein kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of protein localization to cell surface NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of sarcomere organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nucleus localization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in plasma membrane organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in plasma membrane repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of caveolin-mediated endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cytosolic calcium ion concentration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of microtubule polymerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of myotube differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of ubiquitin-dependent protein catabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protein localization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein localization to plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of branching involved in mammary gland duct morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of calcium ion import IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of calcium ion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cardiac muscle cell action potential involved in regulation of contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cytosolic calcium ion concentration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of heart contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of heart rate IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of membrane depolarization during cardiac muscle cell action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of membrane depolarization during cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of membrane potential IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within regulation of nerve growth factor receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of p38MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of signal transduction by receptor internalization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of skeletal muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of sodium ion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of transforming growth factor beta receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of ventricular cardiac muscle cell membrane depolarization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of ventricular cardiac muscle cell membrane repolarization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ischemia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in triglyceride metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ventricular cardiac muscle cell action potential ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in T-tubule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    colocalizes_with Z disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    colocalizes_with caveola IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in caveola ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    part_of dystrophin-associated glycoprotein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    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 intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane raft ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in neuromuscular junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in sarcolemma IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    caveolin-3
    Names
    M-caveolin
    cavolin 3

    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.

    Genomic

    1. NG_008797.2 RefSeqGene

      Range
      4991..17956
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_329

    mRNA and Protein(s)

    1. NM_001234.5NP_001225.1  caveolin-3

      See identical proteins and their annotated locations for NP_001225.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is shorter than variant 1, since it lacks a differentially spliced intron located in the 3' UTR, but both transcripts encode identical proteins.
      Source sequence(s)
      AA993189, AC068312, AK291892, Y14747
      Consensus CDS
      CCDS2569.1
      UniProtKB/Swiss-Prot
      A8K777, P56539, Q3T1A4
      UniProtKB/TrEMBL
      A0A1I9UVK8
      Related
      ENSP00000380525.2, ENST00000397368.2
      Conserved Domains (1) summary
      pfam01146
      Location:17148
      Caveolin
    2. NM_033337.3NP_203123.1  caveolin-3

      See identical proteins and their annotated locations for NP_203123.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is longer than variant 2, since it includes a differentially spliced intron located in the 3' UTR, but both transcripts encode identical proteins.
      Source sequence(s)
      AA993189, AK291892, BC102033, BX114193
      Consensus CDS
      CCDS2569.1
      UniProtKB/Swiss-Prot
      A8K777, P56539, Q3T1A4
      UniProtKB/TrEMBL
      A0A1I9UVK8
      Related
      ENSP00000341940.2, ENST00000343849.3
      Conserved Domains (1) summary
      pfam01146
      Location:17148
      Caveolin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      8733802..8746758
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      8724971..8737928
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)