AlphaFold predicted structure
CAV1 · Q03135
Mean pLDDT
78.4/ 100
Confident
178 residues
Confidence breakdown
- Very high(≥ 90)28%
- Confident(70–90)44%
- Low(50–70)25%
- Very low(< 50)3%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
CAV1
Chr 7q31.2caveolin 1
- MANE:
- ENST00000341049.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Severe insulin resistance and lipodystrophy syndromes
BOTH monoallelic and biallelic, autosomal or pseudoautosomalPulmonary arterial hypertension
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
BIALLELIC, autosomal or pseudoautosomalExtreme early-onset hypertension
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFamilial Meniere Disease
Insulin resistance (including lipodystrophy)
Monogenic diabetes
Unknown
Disease associations (Open Targets)
congenital generalized lipodystrophy type 3
0.66pulmonary hypertension, primary, 3
0.63partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
0.61atrial fibrillation
0.54glaucoma
0.50open-angle glaucoma
0.48cardiac arrhythmia
0.47Berardinelli-Seip congenital lipodystrophy
0.47Generalized congenital lipodystrophy with myopathy
0.47atrial flutter
0.45
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Caveolin-1
May act as a scaffolding protein within caveolar membranes (PubMed:11751885). Forms a stable heterooligomeric complex with CAV2 that targets to lipid rafts and drives caveolae formation. Mediates the recruitment of CAVIN proteins (CAVIN1/2/3/4) to the caveolae (PubMed:19262564). Interacts directly with G protein alpha subunits and can functionally regulate their activity (By similarity). Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner (PubMed:17287217). Recruits CTNNB1 to caveolar membranes and may regulate CTNNB1-mediated signaling through the Wnt pathway (By similarity). Negatively regulates TGFB1-mediated activation of SMAD2/3 by mediating the internalization of TGFBR1 from membrane rafts leading to its subsequent degradation (PubMed:25893292). Binds 20(S)-hydroxycholesterol (20(S)-OHC) (By similarity)
Diseases associated with CAV1
Curated MONDO disease pages that list CAV1 among their top associated genes.