DNMT3A 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: EC 2.1.1.37; Amino Acid Metabolism - cysteine and methionine; Methyltransferase; Methyltransferase, DNA

Chromosomal Location of Human Ortholog: 2p23

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

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

Biological Process: establishment and/or maintenance of chromatin architecture; genetic imprinting; DNA methylation during gametogenesis; S-adenosylhomocysteine metabolic process; negative regulation of transcription from RNA polymerase II promoter; regulation of gene expression, epigenetic; cytosine methylation within a CG sequence; methylation-dependent chromatin silencing; negative regulation of gene expression, epigenetic; DNA methylation; S-adenosylmethioninamine metabolic process; spermatogenesis; gene expression; DNA methylation during embryonic development; DNA methylation on cytosine

Disease: Tatton-brown-rahman Syndrome