BET1

Chr 7q21.3

Bet1 golgi vesicular membrane trafficking protein

Aliases:: hbet1
MANE:: ENST00000222547.8

OMIM: 605456 ↗NCBI: 10282 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

BET1 · O15155

v62025-08-01

Predicted Aligned Error matrix for BET1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.1/ 100

Confident

118 residues

Confidence breakdown

Very high(≥ 90)57%
Confident(70–90)18%
Low(50–70)22%
Very low(< 50)3%

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
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.55
muscular dystrophy, congenital, with rapid progression
0.52
congenital muscular dystrophy
0.38
congenital muscular dystrophy due to LMNA mutation
0.37
poisoning
0.25
ventricular fibrillation
0.24
Abnormality of the genital system
0.22
alcohol drinking
0.21
lymphoid leukemia
0.20
auditory system disorder
0.19

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

Protein function (UniProt)

BET1 homolog

Required for vesicular transport from the ER to the Golgi complex (PubMed:34779586). Functions as a SNARE involved in the docking process of ER-derived vesicles with the cis-Golgi membrane (By similarity)