EHMT1, Official Symbol EHMT1provided by HGNC Official Full Name euchromatic histone lysine methyltransferase 1provided by HGNC Primary source HGNC:HGNC:24650 See related Ensembl:ENSG00000181090 MIM:607001; AllianceGenome:HGNC:24650 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GLP; GLP1; KMT1D; KLEFS1; FP13812; EHMT1-IT1; EUHMTASE1; Eu-HMTase1 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 See more Orthologs mouse all