DNA Methyltransferase 1 (DNMT1) Antibody – Mouse Monoclonal

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]

DNMT1: an ubiquitous DNA methyltransferase that methylates CpG residues. Preferentially methylates hemimethylated DNA. It is responsible for maintaining methylation patterns established in development, and may play an active role in DNA damage repair. Mediates transcriptional repression by direct binding to HDAC2. Its abundance is reduced to non detectable levels at the G0 phase of the cell cycle and is dramatically induced upon entrance into the S-phase of the cell cycle. Interacts with HDAC1 and with PCNA. Forms a complex with DMAP1 and HDAC2, with direct interaction. Forms also a stable complex with E2F1, BB1 and HDAC1. Binds MBD2 and MBD3. Three isoforms of the human protein produced by alternative splicing have been described.

Protein type: EC 2.1.1.37; Cell development/differentiation; Transcription regulation; Methyltransferase, DNA; Amino Acid Metabolism - cysteine and methionine; Methyltransferase

Chromosomal Location of Human Ortholog: 19p13.2

Cellular Component: nucleoplasm; centric heterochromatin; replication fork; nucleus

Molecular Function: DNA (cytosine-5-)-methyltransferase activity; protein binding; DNA binding; methyl-CpG binding; zinc ion binding; RNA binding; chromatin binding; transcription factor binding; DNA-methyltransferase activity

Biological Process: negative regulation of histone H3-K9 methylation; maintenance of DNA methylation; transcription, DNA-dependent; negative regulation of gene expression, epigenetic; DNA methylation; gene expression; gene silencing; chromatin modification; positive regulation of histone H3-K4 methylation; negative regulation of transcription from RNA polymerase II promoter; DNA methylation on cytosine; regulation of gene expression, epigenetic; regulation of cell proliferation

Disease: Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant; Neuropathy, Hereditary Sensory, Type Ie