Aliases for EHMT1 Gene
External Ids for EHMT1 Gene
The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it 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, May 2014]
GeneCards Summary for EHMT1 Gene
EHMT1 (Euchromatic Histone-Lysine N-Methyltransferase 1) is a Protein Coding gene. Diseases associated with EHMT1 include kleefstra syndrome and kleefstra syndrome due to 9q34 microdeletion. Among its related pathways are Cellular Senescence and Cellular Senescence. GO annotations related to this gene include methyltransferase activity and histone-lysine N-methyltransferase activity. An important paralog of this gene is SUV39H2.
UniProtKB/Swiss-Prot 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.
Histone methyltransferases (HMTs) are a group of enyzmes that catalyze the transfer of methyl groups from S-adenosylmethionine (SAM) to histones and are closely related in biological activity to the DNA methyltransferases. Histone methylation occurs predominantly on the side chains of lysine and arginine residues in histones H3 and H4, and multiple methyl groups may be added to each residue. Histone methyltransferases can be subdivided according to their target residue: those which methylate lysine residues on histone proteins are known as protein lysine methyltransferases (PKMTs) whereas those acting on arginine residues are known as protein arginine methyltransferases (PRMTs).