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CAV3 caveolin 3 [ Homo sapiens (human) ]

Gene ID: 859, updated on 5-Jul-2020

Summary

Official Symbol
CAV3provided by HGNC
Official Full Name
caveolin 3provided by HGNC
Primary source
HGNC:HGNC:1529
See related
Ensembl:ENSG00000182533 MIM:601253
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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (8733802..8746758)
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 LIM and cysteine rich domains 1 Neighboring gene uncharacterized LOC107986009 Neighboring gene long intergenic non-protein coding RNA 312 Neighboring gene ssu-2 homolog 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 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

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 
molecular adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
molecular adaptor activity 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 
sodium channel regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
sodium channel regulator activity IMP
Inferred from Mutant Phenotype
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 ISS
Inferred from Sequence or Structural Similarity
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 IEA
Inferred from Electronic Annotation
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 cytosolic calcium ion concentration IBA
Inferred from Biological aspect of Ancestor
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
 
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
 
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_001234.5NP_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
    P56539
    UniProtKB/TrEMBL
    A0A024R2D8
    Related
    ENSP00000380525.2, ENST00000397368.2
    Conserved Domains (1) summary
    pfam01146
    Location:17148
    Caveolin; 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
    P56539
    UniProtKB/TrEMBL
    A0A024R2D8
    Related
    ENSP00000341940.2, ENST00000343849.3
    Conserved Domains (1) summary
    pfam01146
    Location:17148
    Caveolin; Caveolin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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