Polyclonal Antibody to DNA Methyltransferase 1 (DNMT1)

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

Chromosomal Location of Human Ortholog: 19p13.2

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

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

Biological Process: C-5 methylation of cytosine; covalent chromatin modification; DNA methylation; DNA methylation involved in embryo development; 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; positive regulation of gene expression; positive regulation of histone H3-K4 methylation; positive regulation of methylation-dependent chromatin silencing; Ras protein signal transduction; regulation of cell proliferation; transcription, DNA-dependent

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