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; Methyltransferase, DNA; Amino Acid Metabolism - cysteine and methionine; Methyltransferase
Chromosomal Location of Human Ortholog: 2p23
Cellular Component: nucleoplasm; XY body; euchromatin; nuclear matrix; cytoplasm; nuclear heterochromatin; nucleus; chromosome, pericentric region
Molecular Function: DNA (cytosine-5-)-methyltransferase activity; identical protein binding; protein binding; DNA binding; unmethylated CpG binding; DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates; 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; gene expression; spermatogenesis; DNA methylation during embryonic development; DNA methylation on cytosine
Disease: Tatton-brown-rahman Syndrome
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