CTBP1

Chr 4p16.3

C-terminal binding protein 1

Aliases:: BARS
MANE:: ENST00000382952.8

OMIM: 602618 ↗NCBI: 1487 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CTBP1 · Q13363

v62025-08-01

Predicted Aligned Error matrix for CTBP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.3/ 100

Confident

440 residues

Confidence breakdown

Very high(≥ 90)74%
Confident(70–90)1%
Low(50–70)2%
Very low(< 50)23%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disorders

Disease associations (Open Targets)

hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
0.65
type 2 diabetes mellitus
0.42
hereditary disease
0.41
diabetes mellitus
0.32
Intellectual disability
0.27
gestational diabetes
0.25
gout
0.20
diabetic retinopathy
0.20
diabetic eye disease
0.20
gastroesophageal reflux disease
0.15

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

Protein function (UniProt)

C-terminal-binding protein 1

Corepressor targeting diverse transcription regulators such as GLIS2 or BCL6. Has dehydrogenase activity. Involved in controlling the equilibrium between tubular and stacked structures in the Golgi complex. Functions in brown adipose tissue (BAT) differentiation