Aliases for EHMT1 Gene
External Ids for EHMT1 Gene
Previous GeneCards Identifiers 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 due to a point mutation and kleefstra syndrome due to 9q34 microdeletion. Among its related pathways are Cellular Senescence and Chromatin organization. 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. This occurs predominantly on the side chains of lysine and arginine residues in histones H3 and H4.