EHMT1 Antibody – Rabbit Polyclonal

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]

EHMT1: 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. Defects in EHMT1 are the cause of chromosome 9q subtelomeric deletion syndrome (9q- syndrome). 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. Belongs to the histone-lysine methyltransferase family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Amino Acid Metabolism - lysine degradation; EC 2.1.1.43; Methyltransferase; Methyltransferase, protein lysine

Chromosomal Location of Human Ortholog: 9q34.3

Cellular Component: nuclear body; nucleoplasm; nucleus

Molecular Function: histone lysine N-methyltransferase activity (H3-K27 specific); histone lysine N-methyltransferase activity (H3-K9 specific); histone-lysine N-methyltransferase activity; methyltransferase activity; p53 binding; protein binding; protein-lysine N-methyltransferase activity

Biological Process: DNA methylation; embryonic development; establishment and/or maintenance of chromatin architecture; histone methylation; negative regulation of transcription, DNA-dependent; peptidyl-lysine di-methylation; peptidyl-lysine mono-methylation

Disease: Kleefstra Syndrome