Aliases for DNMT1 Gene
External Ids for DNMT1 Gene
Previous Symbols for DNMT1 Gene
DNA (cytosine-5-)-methyltransferase 1 has a role in the establishment and regulation of tissue-specific patterns of methylated cytosine residues. Aberrant methylation patterns are associated with certain human tumors and developmental abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
GeneCards Summary for DNMT1 Gene
DNMT1 (DNA (Cytosine-5-)-Methyltransferase 1) is a Protein Coding gene. Diseases associated with DNMT1 include cerebellar ataxia, deafness, and narcolepsy, autosomal dominant and dnmt1-related dementia, deafness, and sensory neuropathy. Among its related pathways are MicroRNAs in cancer and Metabolism. GO annotations related to this gene include RNA binding and methyl-CpG binding.
UniProtKB/Swiss-Prot for DNMT1 Gene
Methylates CpG residues. Preferentially methylates hemimethylated DNA. Associates with DNA replication sites in S phase maintaining the methylation pattern in the newly synthesized strand, that is essential for epigenetic inheritance. Associates with chromatin during G2 and M phases to maintain DNA methylation independently of replication. It is responsible for maintaining methylation patterns established in development. DNA methylation is coordinated with methylation of histones. Mediates transcriptional repression by direct binding to HDAC2. In association with DNMT3B and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9.
DNA methyltransferase (DNMT) add methyl groups to DNA to effect gene expression. There are three types of DNMTs. DNMT1 is predominately responsible for hemimethylated CpG island methylation, DNMT2 in fact transfers methyl groups to RNA not DNA, hence has been renamed to tRNA aspartic acid methyltransferase 1 (TRDMT1) and DNMT3 is responsible for unmethylated CpG island methylation.