Version: 8.0.0Date: Tue Jan 28 2025
Gene
CAV1
- Species
- Homo sapiens
- Symbol
- CAV1
- Name
- caveolin 1
- Synonyms
- BSCL3
- CAV
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including enzyme binding activity; inward rectifier potassium channel inhibitor activity; and transmembrane transporter binding activity. Involved in several processes, including endocytosis; regulation of protein metabolic process; and regulation of signal transduction. Acts upstream of or within response to estrogen and response to progesterone. Located in several cellular components, including basolateral plasma membrane; caveola; and focal adhesion. Part of protein-containing complex. Implicated in several diseases, including breast cancer (multiple); lipodystrophy (multiple); primary open angle glaucoma; primary pulmonary hypertension; and systemic scleroderma (multiple). Biomarker of several diseases, including acoustic neuroma; breast cancer (multiple); carcinoma (multiple); pulmonary hypertension; and systemic scleroderma.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR10844
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr7:116524994...116561185 + (36.19 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.