CAV3 caveolin 3 [Homo sapiens] - Gene

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Summary

Official Symbol: CAV3provided by HGNC
Official Full Name: caveolin 3provided by HGNC
Primary source: HGNC:1529
See related: Ensembl:ENSG00000182533; HPRD:03154; 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; VIP21; LGMD1C; VIP-21; MGC126100; MGC126101; MGC126129
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]

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Genomic context

Location :: 3p25

Sequence :: Chromosome: 3; NC_000003.11 (8775486..8788451)

See CAV3 in Epigenomics, MapViewer

Chromosome 3 - NC_000003.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Stromal caveolin-3 expression were more frequent in anaplastic carcinoma and diffuse sclerosing variant of papillary carcinoma compared to conventional papillary thyroid carcinoma.
Title: Expression of caveolin-1, caveolin-2 and caveolin-3 in thyroid cancer and stroma.
Detailed analysis of the voltage-dependence of Ca2+ transients revealed a significant shift of Ca2+ release activation to higher depolarization levels in CAV3 mutated cells.
Title: Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle.
Caveolin 3 expression was decreased in an animal model of left ventricular dysfunction and heart failure.
Title: Left ventricular dysfunction in murine models of heart failure and in failing human heart is associated with a selective decrease in the expression of caveolin-3.
Cav-3 is SUMOylated in a manner that is enhanced by the SUMO E3 ligase PIASy; Cav-3 SUMOylation in the mechanisms for beta(2)AR but not beta(1)AR desensitization
Title: Caveolin-3 undergoes SUMOylation by the SUMO E3 ligase PIASy: sumoylation affects G-protein-coupled receptor desensitization.
-3 defects lead to four distinct skeletal muscle disease phenotypes: limb-girdle muscular dystrophy, rippling muscle disease, distal myopathy, and hyperCKemia[review]
Title: Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders.
functional modulation of the Ca(v)3.2 channels by Cav-3 is important for understanding the compartmentalized regulation of Ca(2+) signaling during normal and pathological processes.
Title: Caveolin-3 regulates protein kinase A modulation of the Ca(V)3.2 (alpha1H) T-type Ca2+ channels.
Results describe differential effects of the R26Q and P28L caveolin-3 mutants on growth factor signaling.
Title: Differential effects of myopathy-associated caveolin-3 mutants on growth factor signaling.
Impaired muscle contraction in gallbladders with cholesterol stones is due to high caveolar levels of cholesterol that inhibits CAV-3 generation; cholesterol increases the caveolar sequestration of CAV-3 and CCK-1R.
Title: Effects of cholesterol on CCK-1 receptors and caveolin-3 proteins recycling in human gallbladder muscle.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Genetic analysis revealed a CAV3 c.G136A transition resulting in an A46T missense mutation in a family with rippling muscle disease.
Title: Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers.

Submit: New GeneRIF Correction See all (54)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
P56539	Q14118	DAG1	HPRD	PubMed
P56539	O75923	DYSF	HPRD	PubMed
P56539	P00533	EGFR	HPRD	PubMed
P56539	Q5JWF2	GNAS	HPRD	PubMed
P56539	P06213	INSR	HPRD	PubMed
P56539	Q9BR39	JPH2	HPRD	PubMed
P56539	P29475	NOS1	HPRD	PubMed
P56539	P08237	PFKM	HPRD	PubMed
P56539	Q9NSA0	SLC22A11	HPRD	PubMed
P56539	P32418	SLC8A1	HPRD	PubMed
BioGRID:107307	BioGRID:106663	ADRB2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107307	BioGRID:107975	DAG1	BioGRID	PubMed	Affinity Capture-Western; Co-fractionation; Reconstituted Complex
BioGRID:107307	BioGRID:113896	DYSF	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107307	BioGRID:108276	EGFR	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107307	BioGRID:121414	JPH2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107307	BioGRID:111182	PDGFRA	BioGRID	PubMed	Reconstituted Complex
BioGRID:107307	BioGRID:111185	PDGFRB	BioGRID	PubMed	Reconstituted Complex
BioGRID:107307	BioGRID:111234	PFKM	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107307	BioGRID:112436	SLC8A1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107307	BioGRID:112497	SUMO2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107307	BioGRID:112496	SUMO3	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
nitric-oxide synthase binding	IEA Inferred from Electronic Annotation more info
protein C-terminus binding	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein complex binding	IDA Inferred from Direct Assay more info	PubMed
protein complex scaffold	ISS Inferred from Sequence or Structural Similarity more info
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
cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
cell growth	ISS Inferred from Sequence or Structural Similarity more info
cholesterol homeostasis	IEA Inferred from Electronic Annotation more info
elevation of cytosolic calcium ion concentration	ISS Inferred from Sequence or Structural Similarity more info
endocytosis	IEA Inferred from Electronic Annotation more info
glucose homeostasis	IEA Inferred from Electronic Annotation more info
membrane raft organization	IEA Inferred from Electronic Annotation more info
muscle cell homeostasis	IEA Inferred from Electronic Annotation more info
muscle organ development	TAS Traceable Author Statement more info	PubMed
negative regulation of MAP kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of MAPK cascade	IEA Inferred from Electronic Annotation more info
negative regulation of cardiac muscle hypertrophy	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of cell size	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of nitric-oxide synthase activity	IEA Inferred from Electronic Annotation more info
negative regulation of protein kinase activity	IEA Inferred from Electronic Annotation more info
negative regulation of sarcomere organization	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of microtubule polymerization	ISS Inferred from Sequence or Structural Similarity more info
protein localization	IEA Inferred from Electronic Annotation more info
regulation of calcium ion transport via voltage-gated calcium channel activity	IEA Inferred from Electronic Annotation more info
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 membrane potential	IEA Inferred from Electronic Annotation more info
regulation of skeletal muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of ventricular cardiomyocyte membrane repolarization	IMP Inferred from Mutant Phenotype more info	PubMed
triglyceride metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
Golgi apparatus	IEA Inferred from Electronic Annotation more info
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
caveola	IEA Inferred from Electronic Annotation more info
cell surface	IEA Inferred from Electronic Annotation more info
cytoplasm	IEA Inferred from Electronic Annotation more info
dystrophin-associated glycoprotein complex	IDA Inferred from Direct Assay more info	PubMed
neuromuscular junction	ISS Inferred from Sequence or Structural Similarity more info
sarcolemma	IDA Inferred from Direct Assay more info	PubMed
soluble fraction	IEA Inferred from Electronic Annotation more info
vesicular fraction	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: caveolin-3

Names: caveolin-3; M-caveolin

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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

NG_008797.2 RefSeqGene

Range

4991..17956

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_329

mRNA and Protein(s)

NM_001234.4 → 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

P56539

Related

ENSP00000380525, OTTHUMP00000207105, ENST00000397368, OTTHUMT00000338030

Conserved Domains (1) summary

pfam01146
Location:2 – 150
Blast Score: 605

Caveolin; Caveolin
NM_033337.2 → 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

P56539

Related

ENSP00000341940, OTTHUMP00000115603, ENST00000343849, OTTHUMT00000207008

Conserved Domains (1) summary

pfam01146
Location:2 – 150
Blast Score: 605

Caveolin; Caveolin

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000003.11 Reference GRCh37.p5 Primary Assembly

Range

8775486..8788451

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000135.1 Alternate HuRef

Range

8709553..8722499

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC068312.5 (63569..76524)	None
genomic	AF036366.1	AAC39758.1
genomic	AF036367.1	AAC39758.1
genomic	AF204690.1	AAG02025.1
genomic	CH471055.1	EAW63945.1
		EAW63946.1
mRNA	AA993189.1	None
mRNA	AF036365.1	AAC39756.1
mRNA	AF043101.1	AAC14931.1
mRNA	AK291892.1	BAF84581.1
mRNA	BC069368.1	AAH69368.1
mRNA	BC102033.1	AAI02034.1
mRNA	BC102036.1	AAI02037.1
mRNA	BC102037.1	AAI02038.1
mRNA	BF310794.1	None
mRNA	BX114193.1	None
mRNA	Y14747.1	CAA75042.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P56539.1	GenPept	UniProtKB/Swiss-Prot:P56539

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Additional Links

Epigenomics
MIM 601253
Leiden Muscular Dystrophy pages (CAV3) CAV3
GeneTests for MIM: 601253
Gene Connection for the Heart - Long QT syndrome type 9 mutation database Cav3mut.htm
CAV3 @ ZAC-GGM CAV3
UCSC UCSC
UniGene Hs.98303