CHD1

Chr 5q15-q21.1

chromodomain helicase DNA binding protein 1

MANE:: ENST00000614616.5

OMIM: 602118 ↗NCBI: 1105 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CHD1 · O14646

v62025-08-01

Predicted Aligned Error matrix for CHD1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

62.1/ 100

Low

1,710 residues

Confidence breakdown

Very high(≥ 90)9%
Confident(70–90)42%
Low(50–70)10%
Very low(< 50)40%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting

Disease associations (Open Targets)

intellectual disability with language impairment
0.71
breast carcinoma
0.37
gestational diabetes
0.35
nervous system disorder
0.29
colorectal cancer
0.27
carbuncle
0.27
Furuncle
0.27
colorectal adenoma
0.27
Alzheimer disease
0.25
gastroesophageal reflux disease
0.24

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

Protein function (UniProt)

ATP-dependent chromatin remodeler CHD1

ATP-dependent chromatin-remodeling factor which functions as substrate recognition component of the transcription regulatory histone acetylation (HAT) complex SAGA. Regulates polymerase II transcription. Also required for efficient transcription by RNA polymerase I, and more specifically the polymerase I transcription termination step. Regulates negatively DNA replication. Not only involved in transcription-related chromatin-remodeling, but also required to maintain a specific chromatin configuration across the genome. Is also associated with histone deacetylase (HDAC) activity (By similarity). Required for the bridging of SNF2, the FACT complex, the PAF complex as well as the U2 snRNP complex to H3K4me3. Functions to modulate the efficiency of pre-mRNA splicing in part through physical bridging of spliceosomal components to H3K4me3 (PubMed:18042460, PubMed:28866611). Required for maintaining open chromatin and pluripotency in embryonic stem cells (By similarity)