DNA Antibody – Rabbit Polyclonal

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

DNMT3A: a DNA methyltransferase required for genome wide de novo methylation and essential for development. DNA methylation is coordinated with methylation of histones. Prefers CpG methylation to CpA, CpT, and CpC methylation. Methylates CpG sites at a rate much slower than DNMT1, but greater than DNMT3b. Methylation is coordinated with methylation of histones. Binds the ZNF238 transcriptional repressor. Interacts with SETDB1 and DNMT1. Can co-localize with heterochromatin protein (HP1 ) and methyl-CpG binding protein (MeCBP). Associates with HDAC1 through its ADD-type zinc-finger. Highly expressed in fetal tissues, skeletal muscle, heart, peripheral blood mononuclear cells, kidney, and at lower levels in placenta, brain, liver, colon, spleen, small intestine and lung.

Protein type: Methyltransferase; Methyltransferase, DNA; EC 2.1.1.37; Amino Acid Metabolism - cysteine and methionine

Chromosomal Location of Human Ortholog: 2p23

Cellular Component: chromosome, pericentric region; cytoplasm; euchromatin; nuclear heterochromatin; nuclear matrix; nucleoplasm; nucleus; XY body

Molecular Function: chromatin binding; DNA (cytosine-5-)-methyltransferase activity; DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates; DNA binding; DNA-methyltransferase activity; identical protein binding; metal ion binding; protein binding; unmethylated CpG binding

Biological Process: aging; cytosine methylation within a CG sequence; DNA methylation; DNA methylation during embryonic development; DNA methylation during gametogenesis; DNA methylation on cytosine; establishment and/or maintenance of chromatin architecture; gene expression; genetic imprinting; methylation-dependent chromatin silencing; mitotic cell cycle; negative regulation of gene expression, epigenetic; negative regulation of transcription from RNA polymerase II promoter; neuron differentiation; regulation of gene expression, epigenetic; response to cocaine; response to estradiol stimulus; response to ionizing radiation; response to lead ion; response to toxin; response to vitamin A; S-adenosylhomocysteine metabolic process; S-adenosylmethioninamine metabolic process; spermatogenesis

Disease: Tatton-brown-rahman Syndrome