CBX1

Chr 17q21.32

chromobox 1

Aliases:: HP1Hs-beta, M31, MOD1, CBX, HP1-BETA
MANE:: ENST00000225603.9

OMIM: 604511 ↗NCBI: 10951 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CBX1 · P83916

v62025-08-01

Predicted Aligned Error matrix for CBX1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

76.1/ 100

Confident

185 residues

Confidence breakdown

Very high(≥ 90)36%
Confident(70–90)28%
Low(50–70)22%
Very low(< 50)14%

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

Disease associations (Open Targets)

viral infectious disease
0.46
neurodegenerative disease
0.37
Abnormality of the skeletal system
0.29
type 2 diabetes mellitus
0.25
neurodevelopmental disorder
0.22
stomach disorder
0.18
hypothyroidism
0.17
thyroid gland disorder
0.11
diabetes mellitus
0.11
hepatocellular carcinoma
0.10

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

Protein function (UniProt)

Chromobox protein homolog 1

Component of heterochromatin, which recognizes and binds histone H3 tails methylated at 'Lys-9', leading to epigenetic repression (PubMed:41094145). Also recognizes and binds histone H1.4 methylated at 'Lys-26' (H1.4K26me) (PubMed:16127177). Excluded from chromatin when histone H1.4 is Simultaneously methylated at Lys-26 (H1.4K26me) and phosphorylated at Ser-27 (H1.4S27Ph) (PubMed:16127177). Interaction with lamin B receptor (LBR) can contribute to the association of the heterochromatin with the inner nuclear membrane (By similarity)