EZH1: Enhancer of Zeste 1 Polycomb Repressive Complex 2 Subunit
A core component of the PRC2 complex involved in histone methylation and transcriptional repression
Gene Information Card
| Symbol | EZH1 |
|---|---|
| Full Name | Enhancer of Zeste 1 Polycomb Repressive Complex 2 Subunit |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 2146 ncbi.nlm.nih.gov/gene/2146 |
| Ensembl ID | ENSG00000108799 |
| UniProt ID | Q92800 |
| OMIM ID | 601674 |
| HGNC ID | 3526 |
| Aliases | ENX-2, KMT6B |
Description
EZH1 encodes a member of the Polycomb-group (PcG) family. The encoded protein is a catalytic subunit of the Polycomb Repressive Complex 2 (PRC2), which methylates histone H3 at lysine 27 (H3K27me2/me3) to mediate transcriptional repression. EZH1 can partially substitute for EZH2 in PRC2 and is involved in stem cell maintenance, differentiation, and development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of PRC2 activity via EZH1 overexpression or mutation leads to aberrant H3K27 methylation and silencing of tumor suppressor genes | COSMIC, ClinVar |
| Neurodevelopmental disorders | EZH1 mutations may disrupt PRC2 function, affecting neuronal gene expression programs | ClinVar, OMIM |
| Myelodysplastic syndromes | Somatic mutations in EZH1 are recurrent in myeloid malignancies, altering PRC2 catalytic activity | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 10.1 | Leukemia cell line |
| HeLa | 7.8 | Cervical carcinoma |
| HepG2 | 5.6 | Hepatocellular carcinoma |
| A549 | 6.3 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2062C>T (p.Arg688Trp) | Missense | <1% | Loss of catalytic activity |
| c.1937G>A (p.Arg646His) | Missense | <1% | Reduced H3K27 methyltransferase activity |
| c.1684C>T (p.Arg562*) | Nonsense | <1% | Truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations that reduce or abolish H3K27 methyltransferase activity, leading to decreased PRC2 repressive marks.
Gain of Function (GOF)
Not well documented; EZH1 gain-of-function is rare compared to EZH2.
Dominant Negative (DN)
Some missense mutations may disrupt PRC2 complex assembly, exerting dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • protein binding (GO:0005515) |
| • histone methyltransferase activity (H3-K27 specific) (GO:0042054) | • chromatin organization (GO:0006325) |
| • histone methylation (GO:0016571) | • regulation of transcription (GO:0006355) |
Pathways
• hsa04110: Cell cycle
• hsa05202: Transcriptional misregulation in cancer
• hsa05206: MicroRNAs in cancer
• hsa05200: Pathways in cancer
Protein Summary
EZH1 is a 747-amino acid protein containing a SET domain responsible for histone methyltransferase activity. It functions as a catalytic subunit of PRC2, depositing H3K27me2/me3 marks. Unlike EZH2, EZH1 is expressed in both dividing and non-dividing cells and can maintain PRC2 activity in quiescent cells. Its activity is regulated by post-translational modifications and interaction with other PRC2 components (SUZ12, EED, RBBP4/7).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EZH1 Knockout HEK293 Cell Line | EDJ-KQ3065 | Human | 2145 | Details Get a Quote |
| EZH1 Knockout A-549 Cell Line | EDJ-KQ24332 | Human | 2145 | Details Get a Quote |
| EZH1 Knockout HCT 116 Cell Line | EDJ-KQ24333 | Human | 2145 | Details Get a Quote |
| EZH1 Knockout HeLa Cell Line | EDJ-KQ24334 | Human | 2145 | Details Get a Quote |
