EHMT1

Also known as EUHMTASE1, Eu-HMTase1, FP13812, GLP, GLP1, KMT1D, bA188C12.1, euchromatic histone lysine methyltransferase 1

Euchromatic histone-lysine N-methyltransferase 1, also known as G9a-like protein (GLP), is a protein that in humans is encoded by the EHMT1 gene.

Gene data

EHMT1

Name: euchromatic histone lysine methyltransferase 1
Type: protein-coding
Position: 137,618,977–137,870,016 (+)
Aliases: EHMT1-IT1, EUHMTASE1, Eu-HMTase1, FP13812, GLP, GLP1, KLEFS1, KMT1D
Ensembl: ENSG00000181090
RefSeq RNA: NM_001039765.1, NM_001145527.2, NM_001354259.2, NM_001354263.2, NM_001354611.2
RefSeq protein: NP_001138999.1, NP_001341188.1, NP_001341192.1, NP_001341540.1, NP_001341541.1

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].