NP_001193984.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
95,751 Da
NCBI Official Full Name
DNA (cytosine-5)-methyltransferase 3B isoform 7
NCBI Official Synonym Full Names
DNA (cytosine-5-)-methyltransferase 3 beta
NCBI Protein Information
DNA (cytosine-5)-methyltransferase 3B; DNA (cytosine-5)-methyltransferase 3B; DNA MTase HsaIIIB; DNA methyltransferase HsaIIIB
UniProt Protein Name
DNA (cytosine-5)-methyltransferase 3B
UniProt Synonym Protein Names
DNA methyltransferase HsaIIIB; DNA MTase HsaIIIB; M.HsaIIIB
UniProt Synonym Gene Names
UniProt Entry Name
DNM3B_HUMAN
NCBI Summary for DNMT3B
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 which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]
UniProt Comments for DNMT3B
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: Methyltransferase, DNA; Methyltransferase; Cell development/differentiation; EC 2.1.1.37; Amino Acid Metabolism - cysteine and methionine
Chromosomal Location of Human Ortholog: 20q11.2
Cellular Component: nucleoplasm; intracellular membrane-bound organelle; cytoplasm; nuclear heterochromatin; nucleus
Molecular Function: DNA (cytosine-5-)-methyltransferase activity; protein binding; DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates; unmethylated CpG binding; metal ion binding; DNA-methyltransferase activity; transcription corepressor activity
Biological Process: response to drug; negative regulation of histone H3-K9 methylation; genetic imprinting; S-adenosylhomocysteine metabolic process; negative regulation of transcription from RNA polymerase II promoter; positive regulation of histone H3-K4 methylation; regulation of gene expression, epigenetic; cytosine methylation within a CG sequence; protein complex localization; methylation-dependent chromatin silencing; negative regulation of gene expression, epigenetic; DNA methylation; S-adenosylmethioninamine metabolic process; gene expression; response to ionizing radiation; positive regulation of neuron differentiation; DNA methylation on cytosine
Disease: Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 1
Research Articles on DNMT3B
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Organs/Tissues associated with DNMT3B elisa kit
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