DNA Methyltransferase 3B (DNMT3B) Polyclonal Antibody

This is one of two related genes encoding de novo DNA methyltransferases, which are responsible for the establishment of DNA methylation patterns in embryos. Loss of function of this gene results in severe developmental defects and loss of viability. Mutation of the related gene in humans causes immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. There is a pseudogene for this gene located adjacent to this gene in the same region of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Nov 2012]

DNMT3B: a ubiquitous DNA methyltransferase required for genome wide de novo methylation and essential for development. DNA methylation is coordinated with methylation of histones. Numerous cancer cell lines and primary acute leukemias express aberrant DNMT3B transcripts, especially DNMT3B7. Transfection of DNMT3B7 into 293 cells alters the pattern of genes expressed in the transfected cells. Can interact with DNMT1, which might be a co-operative event during DNA methylation. Methylates CpG sites at a rate slower than DNMT3A and much slower than DNMT1. Interacts with SUV39H1, SETDB1, SUMO1 and UBE2I9. Interacts with DNMT1 and DNMT3A. Mutations in DNMT3B have been shown to cause immunodeficiency-centromeric instability-facial anomalies syndrome (ICF). Six alternatively spliced isoforms of the human protein have been reported. Isoform 1 is expressed in all tissues except brain, skeletal muscle and PBMC, 3 is ubiquitous, 4 is expressed in all tissues except brain, skeletal muscle, lung and prostate and 5 is detectable only in testis and at very low level in brain and prostate. Isoforms 4 and 5 are probably not enzymatically active due to the deletion of two conserved methyltransferase motifs.

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

Chromosomal Location of Human Ortholog: 2|2 H1

Cellular Component: chromosome, centromeric region; cytoplasm; heterochromatin; intracellular membrane-bound organelle; nuclear heterochromatin; nucleoplasm; nucleus

Molecular Function: chromatin binding; DNA (cytosine-5-)-methyltransferase activity; DNA binding; DNA-methyltransferase activity; histone deacetylase binding; metal ion binding; methyltransferase activity; protein binding; transcription corepressor activity; transferase activity

Biological Process: DNA methylation; DNA methylation involved in embryo development; genetic imprinting; methylation; methylation-dependent chromatin silencing; negative regulation of gene expression, epigenetic; negative regulation of histone H3-K9 methylation; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; positive regulation of histone H3-K4 methylation; positive regulation of neuron differentiation; protein complex localization; regulation of gene expression