CHD5

Chr 1p36.31

chromodomain helicase DNA binding protein 5

MANE:: ENST00000262450.8

OMIM: 610771 ↗NCBI: 26038 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CHD5 · Q8TDI0

v62025-08-01

Predicted Aligned Error matrix for CHD5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

62.0/ 100

Low

1,954 residues

Confidence breakdown

Very high(≥ 90)15%
Confident(70–90)36%
Low(50–70)9%
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)

Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

parenti-mignot neurodevelopmental syndrome
0.79
Intellectual disability
0.59
epilepsy
0.49
Global developmental delay
0.42
Seizure
0.41
complex neurodevelopmental disorder
0.37
hereditary disease
0.34
neurodevelopmental disorder
0.32
diabetes mellitus
0.29
Neurodevelopmental delay
0.27

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

Protein function (UniProt)

Guided entry of tail-anchored proteins factor 1

Required for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum (ER) (PubMed:21444755, PubMed:23041287, PubMed:24392163, PubMed:27226539). Together with CAMLG/GET2, acts as a membrane receptor for soluble GET3/TRC40, which recognizes and selectively binds the transmembrane domain of TA proteins in the cytosol (PubMed:21444755, PubMed:23041287, PubMed:24392163, PubMed:27226539). Required to ensure correct topology and ER insertion of CAMLG (PubMed:31417168, PubMed:32187542)