EHMT1 : euchromatic histone lysine methyltransferase 1

Description

The EHMT1 (euchromatic histone lysine methyltransferase 1) is a protein-coding gene located on chromosome 9.

The EHMT1 gene provides instructions for making an enzyme called euchromatic histone methyltransferase 1. Histone methyltransferases are enzymes that modify proteins called histones. Histones are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a molecule called a methyl group to histones, histone methyltransferases can turn off (suppress) the activity of certain genes, which is essential for normal development and function.

EHMT1 is a histone methyltransferase that specifically adds one or two methyl groups to lysine 9 of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. This methylation is a signal for epigenetic transcriptional repression, as it recruits HP1 proteins to the methylated histones. EHMT1 also weakly methylates lysine 27 of histone H3 (H3K27me). Although EHMT1 is required for DNA methylation, its histone methyltransferase activity is not necessary for this process, suggesting that these two activities are independent. EHMT1 is likely targeted to histone H3 by various DNA-binding proteins such as E2F6, MGA, MAX, and/or DP1. During the G0 phase of the cell cycle, EHMT1 probably silences MYC- and E2F-responsive genes, indicating a role in the G0/G1 transition. In addition to its histone methyltransferase activity, EHMT1 also methylates non-histone proteins. It mediates the addition of two methyl groups to lysine 373 of p53/TP53. EHMT1 represses the expression of genes involved in mitochondrial function, possibly by occupying their promoter regions and working with the chromatin reader BAZ2B.

EHMT1 is also known as EHMT1-IT1, EUHMTASE1, Eu-HMTase1, FP13812, GLP, GLP1, KLEFS1, KMT1D.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing