Human Gene DNMT3B (ENST00000348286.6) Description and Page Index
Description: Homo sapiens DNA methyltransferase 3 beta (DNMT3B), transcript variant 3, mRNA. (from RefSeq NM_175849) RefSeq Summary (NM_175849): 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]. Gencode Transcript: ENST00000348286.6 Gencode Gene: ENSG00000088305.18 Transcript (Including UTRs) Position: hg38 chr20:32,762,424-32,809,356 Size: 46,933 Total Exon Count: 20 Strand: + Coding Region Position: hg38 chr20:32,780,324-32,807,903 Size: 27,580 Coding Exon Count: 19
ID:DNM3B_HUMAN DESCRIPTION: RecName: Full=DNA (cytosine-5)-methyltransferase 3B; Short=Dnmt3b; EC=220.127.116.11; AltName: Full=DNA methyltransferase HsaIIIB; Short=DNA MTase HsaIIIB; Short=M.HsaIIIB; FUNCTION: Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co- repressor by associating with CBX4 and independently of DNA methylation. Seems to be involved in gene silencing (By similarity). In association with DNMT1 and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Isoforms 4 and 5 are probably not functional due to the deletion of two conserved methyltransferase motifs. Function as transcriptional corepressor by associating with ZHX1. CATALYTIC ACTIVITY: S-adenosyl-L-methionine + DNA = S-adenosyl-L- homocysteine + DNA containing 5-methylcytosine. ENZYME REGULATION: Activated by binding to the regulatory factor DNMT3L (By similarity). SUBUNIT: Interacts with BAZ2A/TIP5, SUV39H1 and CBX4. Interacts with UHRF1 (By similarity). Interacts with DNMT1 and DNMT3A, SETDB1, UBL1, UBE2I9 and ZHX1. Interacts with the PRC2/EED-EZH2 complex. INTERACTION: O75530:EED; NbExp=4; IntAct=EBI-80125, EBI-923794; Q15910:EZH2; NbExp=6; IntAct=EBI-80125, EBI-530054; P63165:SUMO1; NbExp=4; IntAct=EBI-80125, EBI-80140; P63279:UBE2I; NbExp=3; IntAct=EBI-80125, EBI-80168; Q9UKY1:ZHX1; NbExp=4; IntAct=EBI-6083193, EBI-347767; SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Ubiquitous; highly expressed in fetal liver, heart, kidney, placenta, and at lower levels in spleen, colon, brain, liver, small intestine, lung, peripheral blood mononuclear cells, and skeletal muscle. 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. DOMAIN: The PWWP domain is essential for targeting to pericentric heterochromatin. PTM: Sumoylated. DISEASE: Defects in DNMT3B are a cause of immunodeficiency- centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]. A rare disorder characterized by a variable immunodeficiency, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. SIMILARITY: Belongs to the C5-methyltransferase family. SIMILARITY: Contains 1 ADD domain. SIMILARITY: Contains 1 GATA-type zinc finger. SIMILARITY: Contains 1 PHD-type zinc finger. SIMILARITY: Contains 1 PWWP domain. WEB RESOURCE: Name=DNMT3Bbase; Note=DNMT3B mutation db; URL="http://bioinf.uta.fi/DNMT3Bbase/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UBC3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.