MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP000856

UniProt Annotations

Entry Information
Gene NameDNA (cytosine-5-)-methyltransferase 3 beta
Protein EntryDNM3B_HUMAN
UniProt IDQ9UBC3
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=8; Name=1; IsoId=Q9UBC3-1; Sequence=Displayed; Name=2; IsoId=Q9UBC3-2; Sequence=VSP_005637; Name=3; IsoId=Q9UBC3-3; Sequence=VSP_005637, VSP_005638; Name=4; IsoId=Q9UBC3-4; Sequence=VSP_005637, VSP_005639, VSP_005640; Name=5; IsoId=Q9UBC3-5; Sequence=VSP_005637, VSP_005641; Name=6; IsoId=Q9UBC3-6; Sequence=VSP_005636, VSP_005637; Name=7; IsoId=Q9UBC3-7; Sequence=VSP_045874, VSP_005637, VSP_045876; Note=No experimental confirmation available.; Name=8; IsoId=Q9UBC3-8; Sequence=VSP_045875, VSP_005637, VSP_045876; Note=No experimental confirmation available.;
Catalytic ActivityS-adenosyl-L-methionine + DNA = S-adenosyl-L- homocysteine + DNA containing 5-methylcytosine. {ECO:0000255|PROSITE-ProRule:PRU10018}.
DiseaseImmunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]: A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, 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. {ECO:0000269|PubMed:10555141, ECO:0000269|PubMed:10588719, ECO:0000269|PubMed:10647011, ECO:0000269|PubMed:11102980, ECO:0000269|PubMed:15580563}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe PWWP domain is essential for targeting to pericentric heterochromatin.
Enzyme RegulationActivated by binding to the regulatory factor DNMT3L. {ECO:0000250}.
FunctionRequired 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. {ECO:0000250, ECO:0000269|PubMed:16357870, ECO:0000269|PubMed:17303076, ECO:0000269|PubMed:18413740, ECO:0000269|PubMed:18567530}.
InteractionO75530:EED; NbExp=4; IntAct=EBI-80125, EBI-923794; Q15910:EZH2; NbExp=8; IntAct=EBI-80125, EBI-530054; P63165:SUMO1; NbExp=4; IntAct=EBI-80125, EBI-80140; P63279:UBE2I; NbExp=3; IntAct=EBI-80125, EBI-80168; Q96T88:UHRF1; NbExp=7; IntAct=EBI-80125, EBI-1548946; Q9UKY1:ZHX1; NbExp=6; IntAct=EBI-6083193, EBI-347767;
PtmCitrullinated by PADI4. {ECO:0000250}.
PtmSumoylated. {ECO:0000269|PubMed:11735126}.
SimilarityBelongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family. {ECO:0000255|PROSITE-ProRule:PRU01016}.
SimilarityContains 1 ADD domain. {ECO:0000255|PROSITE- ProRule:PRU00865}.
SimilarityContains 1 GATA-type zinc finger. {ECO:0000255|PROSITE-ProRule:PRU00865}.
SimilarityContains 1 PHD-type zinc finger. {ECO:0000255|PROSITE- ProRule:PRU00865}.
SimilarityContains 1 PWWP domain. {ECO:0000255|PROSITE- ProRule:PRU00162}.
SimilarityContains 1 SAM-dependent MTase C5-type domain. {ECO:0000255|PROSITE-ProRule:PRU01016}.
Subcellular LocationNucleus {ECO:0000269|PubMed:11735126, ECO:0000269|PubMed:12145218}.
SubunitInteracts 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. {ECO:0000250, ECO:0000269|PubMed:11735126, ECO:0000269|PubMed:12145218, ECO:0000269|PubMed:16357870, ECO:0000269|PubMed:16682412, ECO:0000269|PubMed:17303076}.
Tissue SpecificityUbiquitous; 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.
Web ResourceName=DNMT3Bbase; Note=DNMT3B mutation db; URL="http://structure.bmc.lu.se/idbase/DNMT3Bbase/";
  logo