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 MYSLC 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). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Function:
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 MYSLC 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.
Subcellular Location:
Nucleus. Chromosome. Associates with euchromatic regions.
Tissue Specificity:
Widely expressed.
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE:
Defects in EHMT1 are the cause of chromosome 9q subtelomeric deletion syndrome (9q- syndrome) [MIM:610253]. Common features seen in these patients are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, cupid bow or tented upper lip, everted lower lip, prognathism, macroglossia, conotruncal heart defects, and behavioral problems.
Similarity:
Belongs to the histone-lysine methyltransferase family.
Contains 8 ANK repeats.
Contains 1 pre-SET domain.
Contains 1 SET domain.
SWISS:
Q9H9B1
Gene ID:
79813
Database links:
Entrez Gene: 79813 Human
Entrez Gene: 77683 Mouse
Omim: 607001 Human
SwissProt: Q9H9B1 Human
SwissProt: Q5DW34 Mouse
Unigene: 495511 Human
Unigene: 24176 Mouse
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