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caveolin-3; M-caveolin (CAV3)
Function:
- may act as a scaffolding protein within caveolar membranes
- interacts directly with G-protein alpha subunits & can functionally regulate their activity
- may also regulate voltage-gated K+ channels
- plays a role in the sarcolemma repair mechanism of both skeletal muscle & cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress
- interacts with DLG1 & KCNA5; forms a ternary complex (putative)
- interacts with DYSF & TRIM72/MG53
Structure:
- homooligomer
- belongs to the caveolin family
Compartment:
- muscle specific caveolin; localized to sarcolemma
- Golgi membrane
- cell membrane
- caveola
- potential hairpin-like structure in the membrane
- membrane protein of caveolae
Expression:
- expressed predominantly in muscle
Pathology:
1) defects in CAV3 (or reduced levels) are the cause
a) limb-girdle muscular dystrophy type 1C
b) long QT syndrome type 9
2) defects in CAV3 are a cause of
a) hyperCKemia
b) rippling muscle disease
c) familial hypertrophic cardiomyopathy
3) defects in CAV3 can be a cause of
- sudden infant death syndrome
Note:
- uncertain whether Met-1 or Met-2 is the initiator
Related
CAV3 gene
General
caveolin
Properties
SIZE: entity length = 151 aa
MW = 17 kD
COMPARTMENT: golgi
MOTIF: transmembrane domain {84-104}
Database Correlations
OMIM correlations
MORBIDMAP 601253
UniProt P56539
Pfam PF01146
Entrez Gene 859
Kegg hsa:859
References
- UniProt :accession P56539
- CAV3/LGMD1C; Note: Caveolin-3/LGMD-1C page
http://www.dmd.nl/cav3_home.html
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/CAV3
- Wikipedia; Note: Caveolin entry
http://en.wikipedia.org/wiki/Caveolin
- Minetti C et al
Mutations in the caveolin-3 gene cause autosomal dominant
limb-girdle muscular dystrophy.
Nature Genet 18:365-8, 1998
PMID: 9537420