Aliases for EHMT1 Gene
- Euchromatic Histone Lysine Methyltransferase 1 2 3 5
- Eu-HMTase1 2 3 4
- KMT1D 2 3 4
- Euchromatic Histone-Lysine N-Methyltransferase 1 3 4
- Histone-Lysine N-Methyltransferase EHMT1 3 4
- Histone H3-K9 Methyltransferase 5 3 4
- Lysine N-Methyltransferase 1D 3 4
- EHMT1 Intronic Transcript 1 2 3
- G9a-Like Protein 1 3 4
- H3-K9-HMTase 5 3 4
- EUHMTASE1 3 4
- KIAA1876 2 4
External Ids for EHMT1 Gene
Previous HGNC Symbols for EHMT1 Gene
Previous GeneCards Identifiers for EHMT1 Gene
The protein encoded by this gene is a histone methyltransferase that methylates the lysine-9 position of histone H3. This action marks the genomic region packaged with these methylated histones for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2017]
GeneCards Summary for EHMT1 Gene
EHMT1 (Euchromatic Histone Lysine Methyltransferase 1) is a Protein Coding gene. Diseases associated with EHMT1 include Kleefstra Syndrome 1 and Polymicrogyria. Among its related pathways are Cellular Senescence (REACTOME) and Chromatin organization. Gene Ontology (GO) annotations related to this gene include methyltransferase activity and histone-lysine N-methyltransferase activity. An important paralog of this gene is EHMT2.
UniProtKB/Swiss-Prot Summary for EHMT1 Gene
Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. Also weakly methylates 'Lys-27' of histone H3 (H3K27me). Also required for DNA methylation, the histone methyltransferase activity is not required for DNA methylation, suggesting that these 2 activities function independently. Probably targeted to histone H3 by different DNA-binding proteins like E2F6, MGA, MAX and/or DP1. During G0 phase, it probably contributes to silencing of MYC- and E2F-responsive genes, suggesting a role in G0/G1 transition in cell cycle. In addition to the histone methyltransferase activity, also methylates non-histone proteins: mediates dimethylation of 'Lys-373' of p53/TP53.
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.