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    CAV3 caveolin 3 [ Homo sapiens (human) ]

    Gene ID: 859, updated on 4-Nov-2018

    Summary

    Official Symbol
    CAV3provided by HGNC
    Official Full Name
    caveolin 3provided by HGNC
    Primary source
    HGNC:HGNC:1529
    See related
    Ensembl:ENSG00000182533 MIM:601253; Vega:OTTHUMG00000090519
    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

    Genomic context

    See CAV3 in Genome Data Viewer
    Location:
    3p25.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (8733800..8746765)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (8775486..8788451)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986009 Neighboring gene long intergenic non-protein coding RNA 312 Neighboring gene ssu-2 homolog (C. elegans) Neighboring gene olfactory receptor family 7 subfamily E member 122 pseudogene Neighboring gene oxytocin receptor Neighboring gene uncharacterized LOC107986061

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Bacterial invasion of epithelial cells, organism-specific biosystem (from KEGG)
      Bacterial invasion of epithelial cells, organism-specific biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
    • Bacterial invasion of epithelial cells, conserved biosystem (from KEGG)
      Bacterial invasion of epithelial cells, conserved biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Fluid shear stress and atherosclerosis, organism-specific biosystem (from KEGG)
      Fluid shear stress and atherosclerosis, organism-specific biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
    • Fluid shear stress and atherosclerosis, conserved biosystem (from KEGG)
      Fluid shear stress and atherosclerosis, conserved biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
    • Focal Adhesion, organism-specific biosystem (from WikiPathways)
      Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, organism-specific biosystem (from KEGG)
      Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, conserved biosystem (from KEGG)
      Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Integrin-mediated Cell Adhesion, organism-specific biosystem (from WikiPathways)
      Integrin-mediated Cell Adhesion, organism-specific biosystemIntegrins are receptors that mediate attachment between a cell and the tissues surrounding it, which may be other cells or the extracellular matrix (ECM). They also play a role in cell signaling and ...
    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • PDGFR-alpha signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      PDGFR-alpha signaling pathway, organism-specific biosystem
      PDGFR-alpha signaling pathway
    • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
      Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
    • Proteoglycans in cancer, conserved biosystem (from KEGG)
      Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
    • Smooth Muscle Contraction, organism-specific biosystem (from REACTOME)
      Smooth Muscle Contraction, organism-specific biosystemLayers of smooth muscle cells can be found in the walls of numerous organs and tissues within the body. Smooth muscle tissue lacks the striated banding pattern characteristic of skeletal and cardiac ...
    • Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
      Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC126100, MGC126101, MGC126129

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    caveolin-3
    Names
    M-caveolin
    cavolin 3

    NCBI Reference Sequences (RefSeq)

    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_001234.4NP_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
      P56539
      UniProtKB/TrEMBL
      A0A024R2D8
      Related
      ENSP00000380525.2, OTTHUMP00000207105, ENST00000397368.2, OTTHUMT00000338030
      Conserved Domains (1) summary
      pfam01146
      Location:17148
      Caveolin; Caveolin
    2. NM_033337.2NP_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
      P56539
      UniProtKB/TrEMBL
      A0A024R2D8
      Related
      ENSP00000341940.2, OTTHUMP00000115603, ENST00000343849.2, OTTHUMT00000207008
      Conserved Domains (1) summary
      pfam01146
      Location:17148
      Caveolin; Caveolin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

      Range
      8733800..8746765
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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