DNA Methyltransferase 3B (DNMT3B)

ICF; M.HsaIIIB; DNA methyltransferase HsaIIIB

SPN	O503
HGNC	2979
MGI	1261819
PubMed	23025623
RGD	1303274
UniProt	Q9UBC3
Wiki	DNMT3B

DNMT3B, is a protein associated with immunodeficiency, centromere instability and facial anomalies syndrome. 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. Six alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined.

Reference

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Gene 236:87-95(1999) [PubMed] [Europe PMC] [Abstract]

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Nature 402:187-191(1999) [PubMed] [Europe PMC] [Abstract]

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Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and comparative analysis of human chromosome 20."
Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]

"The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors."
Nucleic Acids Res. 27:2291-2298(1999) [PubMed] [Europe PMC] [Abstract]

"Dnmt3b, de novo DNA methyltransferase, interacts with SUMO-1 and Ubc9 through its N-terminal region and is subject to modification by SUMO-1."
Biochem. Biophys. Res. Commun. 289:862-868(2001) [PubMed] [Europe PMC] [Abstract]

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"The histone methyltransferase SETDB1 and the DNA methyltransferase DNMT3A interact directly and localize to promoters silenced in cancer cells."
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Nature 439:871-874(2006) [PubMed] [Europe PMC] [Abstract]

Erratum
Nature 446:824-824(2006)

"Zinc-fingers and homeoboxes 1 (ZHX1) binds DNA methyltransferase (DNMT) 3B to enhance DNMT3B-mediated transcriptional repression."
Biochem. Biophys. Res. Commun. 355:318-323(2007) [PubMed] [Europe PMC] [Abstract]

"Polycomb-mediated methylation on Lys27 of histone H3 pre-marks genes for de novo methylation in cancer."
Nat. Genet. 39:232-236(2007) [PubMed] [Europe PMC] [Abstract]

"DNA methyltransferase 1 and 3B activate BAG-1 expression via recruitment of CTCFL/BORIS and modulation of promoter histone methylation."
Cancer Res. 68:2726-2735(2008) [PubMed] [Europe PMC] [Abstract]

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"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]

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"Crystal structure of the PWWP domain of human DNA (cytosine-5-)-methyltransferase 3 beta."
Submitted (MAR-2009) to the PDB data bank

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PLoS ONE 6:E18919-E18919(2011) [PubMed] [Europe PMC] [Abstract]

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Cell 99:247-257(1999) [PubMed] [Europe PMC] [Abstract]

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Hum. Mutat. 25:56-63(2005) [PubMed] [Europe PMC] [Abstract]