Associated with
Other Information
Genular Protein ID: 3488070543
Symbol: CAV3_HUMAN
Name: Caveolin-3
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9537420
Title: Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.
PubMed ID: 9537420
DOI: 10.1038/ng0498-365
PubMed ID: 9545514
PubMed ID: 9536092
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 16641997
Title: The DNA sequence, annotation and analysis of human chromosome 3.
PubMed ID: 16641997
DOI: 10.1038/nature04728
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 10988290
Title: Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. Identification of a central WW-like domain within caveolin family members.
PubMed ID: 10988290
PubMed ID: 11532985
Title: The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.
PubMed ID: 11532985
PubMed ID: 19262564
Title: SRBC/cavin-3 is a caveolin adapter protein that regulates caveolae function.
PubMed ID: 19262564
PubMed ID: 21362625
Title: Caveolin-3 undergoes SUMOylation by the SUMO E3 ligase PIASy: sumoylation affects G-protein-coupled receptor desensitization.
PubMed ID: 21362625
PubMed ID: 24567387
Title: MURC/Cavin-4 facilitates recruitment of ERK to caveolae and concentric cardiac hypertrophy induced by alpha1-adrenergic receptors.
PubMed ID: 24567387
PubMed ID: 26497963
Title: The coiled-coil domain of MURC/cavin-4 is involved in membrane trafficking of caveolin-3 in cardiomyocytes.
PubMed ID: 26497963
PubMed ID: 11001938
Title: Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy.
PubMed ID: 11001938
PubMed ID: 10746614
Title: Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.
PubMed ID: 10746614
PubMed ID: 11251997
Title: Mutations in the caveolin-3 gene: when are they pathogenic?
PubMed ID: 11251997
DOI: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1168>3.0.co;2-o
PubMed ID: 11431690
Title: Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
PubMed ID: 11431690
DOI: 10.1038/90050
PubMed ID: 11756609
Title: A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.
PubMed ID: 11756609
PubMed ID: 12082049
Title: Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene.
PubMed ID: 12082049
DOI: 10.1136/jnnp.73.1.65
PubMed ID: 11805270
Title: Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.
PubMed ID: 11805270
DOI: 10.1212/wnl.58.2.323
PubMed ID: 12557291
Title: Consequences of a novel caveolin-3 mutation in a large German family.
PubMed ID: 12557291
DOI: 10.1002/ana.10442
PubMed ID: 12666119
Title: Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
PubMed ID: 12666119
DOI: 10.1002/ana.10501
PubMed ID: 12939441
Title: Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.
PubMed ID: 12939441
PubMed ID: 14663034
Title: A CAV3 microdeletion differentially affects skeletal muscle and myocardium.
PubMed ID: 14663034
PubMed ID: 14672715
Title: Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy.
PubMed ID: 14672715
PubMed ID: 15099591
Title: A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.
PubMed ID: 15099591
PubMed ID: 15564037
Title: Two novel CAV3 gene mutations in Japanese families.
PubMed ID: 15564037
PubMed ID: 15668980
Title: Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.
PubMed ID: 15668980
DOI: 10.1002/ana.20350
PubMed ID: 15580566
Title: Molecular and muscle pathology in a series of caveolinopathy patients.
PubMed ID: 15580566
DOI: 10.1002/humu.20119
PubMed ID: 16458928
Title: A new missense mutation in caveolin-3 gene causes rippling muscle disease.
PubMed ID: 16458928
PubMed ID: 17060380
Title: Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.
PubMed ID: 17060380
PubMed ID: 17275750
Title: Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.
PubMed ID: 17275750
Sequence Information:
- Length: 151
- Mass: 17259
- Checksum: C695E14F5B8F4753
- Sequence:
MMAEEHTDLE AQIVKDIHCK EIDLVNRDPK NINEDIVKVD FEDVIAEPVG TYSFDGVWKV SYTTFTVSKY WCYRLLSTLL GVPLALLWGF LFACISFCHI WAVVPCIKSY LIEIQCISHI YSLCIRTFCN PLFAALGQVC SSIKVVLRKE V
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.