CAV1 caveolin 1
Gene ID: 857, updated on 1-Jul-2024Gene type: protein coding
Also known as: CGL3; PPH3; BSCL3; LCCNS; VIP21; MSTP085
- See all available tests in GTR for this gene
- Go to complete Gene record for CAV1
- Go to Variation Viewer for CAV1 variants
Summary
The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. GeneReviews: Not available | |
| Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. GeneReviews: Not available | |
| Congenital generalized lipodystrophy type 3 | See labs |
| Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. GeneReviews: Not available | |
| Genetic determinants of P wave duration and PR segment. GeneReviews: Not available | |
| Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. GeneReviews: Not available | |
| Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations. GeneReviews: Not available | |
| Genome-wide association study of PR interval. GeneReviews: Not available | |
| Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians. GeneReviews: Not available | |
| Meta-analysis identifies six new susceptibility loci for atrial fibrillation. GeneReviews: Not available | |
| Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts. GeneReviews: Not available | |
| Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | See labs |
| Pulmonary hypertension, primary, 3 | See labs |
| Several common variants modulate heart rate, PR interval and QRS duration. GeneReviews: Not available |
Genomic context
- Location:
- 7q31.2
- Sequence:
- Chromosome: 7; NC_000007.14 (116525009..116561185)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CAV1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CAV1 database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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