Full name: euchromatic histone lysine methyltransferase 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: EHMT1-IT1; EUHMTASE1; Eu-HMTase1; FP13812; GLP; GLP1; KLEFS1; KMT1D

Summary: 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]

Expression: Ubiquitous expression in testis (RPKM 9.7), spleen (RPKM 7.2) and 25 other tissues

Gene size: 217123bp

Exon count: 38