DNMT1 Antibody – Mouse Monoclonal

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]

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

Chromosomal Location of Human Ortholog: 19p13.2

Cellular Component: cell soma; centric heterochromatin; cytoplasm; nucleoplasm; nucleus; protein complex; replication fork

Molecular Function: chromatin binding; DNA (cytosine-5-)-methyltransferase activity; DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates; DNA binding; DNA-methyltransferase activity; double-stranded DNA binding; estrogen receptor binding; histone deacetylase binding; methyl-CpG binding; protein binding; protein domain specific binding; RNA binding; transcription factor binding; unmethylated CpG binding; zinc ion binding

Biological Process: aging; brain development; chromatin modification; cytosine methylation within a CG sequence; DNA methylation; DNA methylation on cytosine; gene expression; gene silencing; maintenance of DNA methylation; negative regulation of gene expression, epigenetic; negative regulation of histone H3-K9 methylation; negative regulation of transcription from RNA polymerase II promoter; neuron differentiation; positive regulation of histone H3-K4 methylation; regulation of cell proliferation; regulation of gene expression, epigenetic; response to activity; response to caffeine; response to estradiol stimulus; response to ethanol; response to heat; response to ionizing radiation; response to lipopolysaccharide; response to testosterone stimulus; response to toxin; response to vitamin A; S-adenosylhomocysteine metabolic process; S-adenosylmethioninamine metabolic process; S-adenosylmethionine metabolic process; transcription, DNA-dependent

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