DNMT1, Official Symbol DNMT1provided by HGNC Official Full Name DNA methyltransferase 1provided by HGNC Primary source HGNC:HGNC:2976 See related Ensembl:ENSG00000130816 MIM:126375; AllianceGenome:HGNC:2976 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 AIM; DNMT; MCMT; CXXC9; HSN1E; ADCADN; m.HsaI Summary This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Methylation of DNA is an important component of mammalian epigenetic gene regulation. Aberrant methylation patterns are found in human tumors and associated with developmental abnormalities. Variation in this gene has been associated with cerebellar ataxia, deafness, and narcolepsy, and neuropathy, hereditary sensory, type IE. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Broad expression in placenta (RPKM 28.0), lymph node (RPKM 23.6) and 24 other tissues See more Orthologs mouse all