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    CAV3 caveolin 3 [ Homo sapiens (human) ]

    Gene ID: 859, updated on 4-Jan-2025

    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
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    Genomic context

    See CAV3 in Genome Data Viewer
    Location:
    3p25.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (8733802..8746758)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (8724971..8737928)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • MGC126100, MGC126101, MGC126129

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-tubulin binding  
    enables calcium channel regulator activity PubMed 
    enables connexin binding PubMed 
    enables molecular adaptor activity  
    enables molecular adaptor activity PubMed 
    enables nitric-oxide synthase binding  
    enables potassium channel inhibitor activity PubMed 
    enables protein binding PubMed 
    enables protein-containing complex binding PubMed 
    enables sodium channel regulator activity PubMed 
    enables sodium channel regulator activity PubMed 
    enables transmembrane transporter binding  
    enables transmembrane transporter binding PubMed 
    Items 1 - 25 of 64
    Process Evidence Code Pubs
    involved_in MAPK cascade  
    involved_in T-tubule organization PubMed 
    involved_in actin filament organization  
    involved_in calcium ion transport  
    involved_in cardiac muscle cell development  
    involved_in cardiac muscle hypertrophy  
    involved_in caveola assembly  
    acts_upstream_of_or_within caveola assembly PubMed 
    involved_in cell differentiation  
    involved_in cell differentiation  
    involved_in cholesterol homeostasis  
    involved_in cytoplasmic microtubule organization  
    involved_in detection of muscle stretch  
    involved_in endocytosis  
    involved_in establishment of localization in cell  
    involved_in glucose homeostasis  
    involved_in heart trabecula formation  
    involved_in membrane raft organization  
    involved_in muscle organ development PubMed 
    involved_in myoblast fusion  
    involved_in negative regulation of MAPK cascade PubMed 
    involved_in negative regulation of MAPK cascade  
    acts_upstream_of_or_within negative regulation of calcium ion transport PubMed 
    involved_in negative regulation of cardiac muscle hypertrophy PubMed 
    involved_in negative regulation of cell growth involved in cardiac muscle cell development  
    involved_in negative regulation of cell size PubMed 
    involved_in negative regulation of membrane depolarization during cardiac muscle cell action potential  
    involved_in negative regulation of potassium ion transmembrane transport PubMed 
    involved_in negative regulation of protein localization to cell surface PubMed 
    involved_in negative regulation of sarcomere organization PubMed 
    involved_in nucleus localization  
    involved_in plasma membrane organization  
    involved_in plasma membrane repair  
    involved_in positive regulation of caveolin-mediated endocytosis  
    involved_in positive regulation of cell population proliferation  
    involved_in positive regulation of cytosolic calcium ion concentration  
    involved_in positive regulation of microtubule polymerization  
    involved_in positive regulation of myotube differentiation  
    involved_in positive regulation of ubiquitin-dependent protein catabolic process PubMed 
    involved_in protein localization  
    involved_in protein localization to plasma membrane  
    involved_in regulation of branching involved in mammary gland duct morphogenesis  
    involved_in regulation of calcium ion import PubMed 
    involved_in regulation of cardiac muscle cell action potential involved in regulation of contraction PubMed 
    involved_in regulation of cardiac muscle contraction PubMed 
    involved_in regulation of cytosolic calcium ion concentration  
    involved_in regulation of heart contraction PubMed 
    involved_in regulation of heart rate PubMed 
    involved_in regulation of membrane depolarization during cardiac muscle cell action potential PubMed 
    involved_in regulation of membrane potential  
    involved_in regulation of membrane potential PubMed 
    acts_upstream_of_or_within regulation of nerve growth factor receptor activity PubMed 
    involved_in regulation of p38MAPK cascade  
    involved_in regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  
    acts_upstream_of_or_within regulation of signal transduction by receptor internalization PubMed 
    involved_in regulation of skeletal muscle contraction PubMed 
    involved_in regulation of sodium ion transmembrane transport PubMed 
    involved_in regulation of transforming growth factor beta receptor signaling pathway  
    involved_in regulation of ventricular cardiac muscle cell membrane depolarization PubMed 
    involved_in regulation of ventricular cardiac muscle cell membrane repolarization PubMed 
    involved_in response to hypoxia  
    involved_in response to ischemia  
    involved_in triglyceride metabolic process  
    involved_in ventricular cardiac muscle cell action potential PubMed 
    Items 1 - 25 of 64
    Component Evidence Code Pubs
    located_in Golgi membrane  
    located_in T-tubule  
    colocalizes_with Z disc  
    colocalizes_with caveola  
    located_in caveola  
    located_in cell surface  
    part_of dystrophin-associated glycoprotein complex PubMed 
    located_in endoplasmic reticulum PubMed 
    colocalizes_with focal adhesion  
    located_in intercalated disc  
    located_in intracellular membrane-bounded organelle  
    located_in membrane raft  
    located_in neuromuscular junction  
    located_in plasma membrane PubMed 
    located_in plasma membrane  
    located_in sarcolemma PubMed 
    located_in vesicle  

    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_001234.5 → NP_001225.1  caveolin-3

      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:17 → 148
      Caveolin
    2. NM_033337.3 → NP_203123.1  caveolin-3

      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:17 → 148
      Caveolin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)
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