EZH1 Gene Summary [Human]
EZH1 is a component of a noncanonical Polycomb repressive complex-2 (PRC2) that mediates methylation of histone H3 (see MIM 602812) lys27 (H3K27) and functions in the maintenance of embryonic stem cell pluripotency and plasticity (Shen et al., 2008 [PubMed 19026780]).[supplied by OMIM, Mar 2009]
Details
| Type | Protein Coding |
| Official Symbol | EZH1 |
| Official Name | enhancer of zeste 1 polycomb repressive complex 2 subunit [Source:HGNC Symbol;Acc:HGNC:3526] |
| Ensembl ID | ENSG00000108799 |
| Bio databases IDs | |
| Aliases | enhancer of zeste 1 polycomb repressive complex 2 subunit |
| Synonyms | enhancer of zeste 1 polycomb repressive complex 2 subunit, ENX-2, KMT6B, LOC100044129, LOC100505859 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human EZH1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SANT
- histone binding
- SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- transcription co-repressor
- CXC domain
- protein binding activity, bridging
- chromatin binding
- enzyme
- protein binding
- protein-lysine N-methyltransferase
- histone lysine N-methyltransferase activity (H3-K27 specific)
- Polycomb repressive complex 2 tri-helical domain
- binding protein
- SET domain
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
- WD repeat binding protein EZH2
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- follicular B-cell or T-cell lymphoma
- typical follicular lymphoma
- epithelioid sarcoma
- organismal death
- soft tissue sarcoma
- adult T-cell leukemia/lymphoma
- uterine leiomyoma
- leiomyomatosis
- metastatic soft tissue sarcoma
- peripheral T-cell lymphoma
role in cell
- expression in
- production in
- cell viability
- Gap 0-Gap 1 phase
- formation
- proliferation
- binding
- homeostasis
- quantity
- remodeling
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- heterochromatin
- nucleoplasm
- telomeres
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EZH1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- chromatin remodeling
- telomeric heterochromatin assembly
- heterochromatin assembly
- anatomical structure morphogenesis
- hippocampus development
- positive regulation of transcription from RNA polymerase II promoter
- methylation
Cellular Component
Where in the cell the gene product is active
- chromosome, telomeric region
- nucleus
- heterochromatin
- ESC/E(Z) complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- transcription corepressor activity
- histone binding
- nucleosome binding
- chromatin binding
- histone methyltransferase activity (H3-K27 specific)