CAVIN1

Chr 17q21.2

caveolae associated protein 1

Aliases:: cavin-1, CGL4
MANE:: ENST00000357037.6

OMIM: 603198 ↗NCBI: 284119 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

CAVIN1 · Q6NZI2

v62025-08-01

Predicted Aligned Error matrix for CAVIN1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.4/ 100

Low

390 residues

Confidence breakdown

Very high(≥ 90)24%
Confident(70–90)20%
Low(50–70)25%
Very low(< 50)31%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomal
Insulin resistance (including lipodystrophy)
BIALLELIC, autosomal or pseudoautosomal
Severe insulin resistance and lipodystrophy syndromes
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disorders
BIALLELIC, autosomal or pseudoautosomal
Monogenic diabetes
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

congenital generalized lipodystrophy type 4
0.73
Generalized congenital lipodystrophy with myopathy
0.64
lipodystrophy
0.38
congenital generalized lipodystrophy
0.34
breast carcinoma
0.22
monogenic diabetes
0.17
atopic eczema
0.12
glioblastoma
0.11
glioma
0.10
central nervous system cancer
0.10

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Caveolae-associated protein 1

Plays an important role in caveolae formation and organization. Essential for the formation of caveolae in all tissues (PubMed:18056712, PubMed:18191225, PubMed:19726876). Core component of the CAVIN complex which is essential for recruitment of the complex to the caveolae in presence of calveolin-1 (CAV1). Essential for normal oligomerization of CAV1. Promotes ribosomal transcriptional activity in response to metabolic challenges in the adipocytes and plays an important role in the formation of the ribosomal transcriptional loop. Dissociates transcription complexes paused by DNA-bound TTF1, thereby releasing both RNA polymerase I and pre-RNA from the template (By similarity) (PubMed:18056712, PubMed:18191225, PubMed:19726876). The caveolae biogenesis pathway is required for the secretion of proteins such as GASK1A (By similarity)