Full name: euchromatic histone methyltransferase 1

Gene type: protein coding

RefSeq status: VALIDATED

Also known as: 9230102N17Rik; D330003E03; Eu-HMTase1; GLP; GLP1; KMT1D; mKIAA1876

Summary: Enables C2H2 zinc finger domain binding activity; histone methyltransferase activity (H3-K27 specific); and histone methyltransferase activity (H3-K9 specific). Involved in several processes, including macromolecule methylation; negative regulation of transcription, DNA-templated; and positive regulation of cold-induced thermogenesis. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Located in nucleus. Is expressed in several structures, including alimentary system; forelimb; integumental system; nervous system; and respiratory system. Used to study Kleefstra syndrome 1. Human ortholog(s) of this gene implicated in Kleefstra syndrome and Kleefstra syndrome 1. Orthologous to human EHMT1 (euchromatic histone lysine methyltransferase 1). [provided by Alliance of Genome Resources, Apr 2022]

Expression: Ubiquitous expression in CNS E11.5 (RPKM 26.6), whole brain E14.5 (RPKM 23.0) and 28 other tissues

Gene size: 128878bp

Exon count: 29