EZH1

Chr 17q21.2

enhancer of zeste 1 polycomb repressive complex 2 subunit

Aliases:: KIAA0388, KMT6B
MANE:: ENST00000428826.7

OMIM: 601674 ↗NCBI: 2145 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

EZH1 · Q92800

v62025-08-01

Predicted Aligned Error matrix for EZH1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.6/ 100

Confident

747 residues

Confidence breakdown

Very high(≥ 90)38%
Confident(70–90)30%
Low(50–70)11%
Very low(< 50)21%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder
0.43
Intellectual disability
0.37
Eczematoid dermatitis
0.14
dermatitis
0.14
hepatocellular carcinoma
0.09
mantle cell lymphoma
0.08
breast cancer
0.08
Miyoshi myopathy
0.08
glioblastoma
0.08
bronchopulmonary dysplasia
0.08

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

Protein function (UniProt)

Histone-lysine N-methyltransferase EZH1

Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH1 complex, which methylates 'Lys-27' of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate 'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Required for embryonic stem cell derivation and self-renewal, suggesting that it is involved in safeguarding embryonic stem cell identity. Compared to EZH2-containing complexes, it is less abundant in embryonic stem cells, has weak methyltransferase activity and plays a less critical role in forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation