Aliases for EZH1 Gene
External Ids for EZH1 Gene
Previous GeneCards Identifiers for EZH1 Gene
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]
GeneCards Summary for EZH1 Gene
EZH1 (Enhancer Of Zeste 1 Polycomb Repressive Complex 2 Subunit) is a Protein Coding gene. Diseases associated with EZH1 include Retinitis Pigmentosa 48 and Weaver Syndrome. Among its related pathways are Lysine degradation and Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include chromatin binding and histone methyltransferase activity (H3-K27 specific). An important paralog of this gene is EZH2.
UniProtKB/Swiss-Prot Summary for EZH1 Gene
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.
Lysine methyltransferases are enyzmes that catalyze the transfer of methyl groups from S-adenosylmethionine (SAM) to the lysine residues on histones, particularly histones H3 and H4. The dysregulation of this methylation is critical in the development of cancer.