CAV1

Chr 7

caveolin 1

Also known as: BSCL3, CGL3, LCCNS, MSTP085, PPH3, VIP21

NCBI Gene: 857ENSG00000105974UniProt: Q03135

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLipodystrophy, congenital generalized, 3
UniProtPulmonary hypertension, primary, 3
UniProtLipodystrophy, familial partial, 7

Clinical highlights

Gene-disease validity (ClinGen)
amyotrophic lateral sclerosis · ADLimitednot for standalone diagnostic reporting4 gene-disease associations curated in total
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
5
Active trials
272
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.31
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — CAV1
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.31LOEUF
pLI 0.008
Z-score 1.03
OE 0.58 (0.28–1.31)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.67Z-score
OE missense 0.82 (0.69–0.98)
86 obs / 105.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.58 (0.28–1.31)
0≤0.351.4
Missense OE?0.82 (0.69–0.98)
0≤0.61.4
Synonymous OE?0.83
0≤1.21.6
LoF obs/exp: 4 / 6.9Missense obs/exp: 86 / 105.3Syn Z: 0.81

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CAV1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients