Recombinant Human Histone-lysine N-methyltransferase EHMT1 (EHMT1), Truncated

Uniprot Id

Q9H9B1

Target Species

Human

Target Name

EHMT1

Target Full Name

Histone-lysine N-methyltransferase EHMT1

Target 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 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. Represses the expression of mitochondrial function-related genes, perhaps by occupying their promoter regions, working in concert with probable chromatin reader BAZ2B

Target Involvement

Kleefstra syndrome 1 (KLEFS1)

Target Subcellular Location

Nucleus. Chromosome. Note=Associates with euchromatic regions.

Target Protein Families

Class V-like SAM-binding methyltransferase superfamily

Target Tissue Specificity

Widely expressed.

Target Synonyms

bA188C12.1; DKFZp667M072; EHMT 1; EHMT1; EHMT1_HUMAN; Eu-HMTase1; Euchromatic histone lysine N methyltransferase 1; Euchromatic histone methyltransferase 1; Euchromatic histone-lysine N-methyltransferase 1; EUHMTASE1; FLJ12879; FP13812; G9a like protein 1; G9a like protein; G9a-like protein 1; GLP 1; GLP; GLP1; H3 K9 HMTase 5; H3-K9-HMTase 5; Histone H3 K9 methyltransferase 5; Histone H3-K9 methyltransferase 5; Histone lysine N methyltransferase H3 lysine 9 specific 5; Histone-lysine N-methyltransferase EHMT1; KIAA1876; Lysine N methyltransferase 1D; Lysine N-methyltransferase 1D; RP11 188C12.1

Target Background

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.