Homo sapiens Protein: DNMT3B | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-65417.7 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | DNMT3B | ||||||||||||||||||||||
Protein Name | DNA (cytosine-5-)-methyltransferase 3 beta | ||||||||||||||||||||||
Synonyms | ICF; ICF1; M.HsaIIIB; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000201963 | ||||||||||||||||||||||
InnateDB Gene | IDBG-65401 (DNMT3B) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
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. {ECO:0000250, ECO:0000269PubMed:16357870, ECO:0000269PubMed:17303076, ECO:0000269PubMed:18413740, ECO:0000269PubMed:18567530}. | ||||||||||||||||||||||
Subcellular Localization | Nucleus {ECO:0000269PubMed:11735126, ECO:0000269PubMed:12145218}. | ||||||||||||||||||||||
Disease Associations | Immunodeficiency-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:0000269PubMed:10555141, ECO:0000269PubMed:10588719, ECO:0000269PubMed:10647011, ECO:0000269PubMed:11102980, ECO:0000269PubMed:15580563}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
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. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 110 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000313
PWWP domain IPR001525 C-5 cytosine methyltransferase IPR011011 Zinc finger, FYVE/PHD-type IPR029063 S-adenosyl-L-methionine-dependent methyltransferase-like |
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PFAM |
PF00855
PF00145 |
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PRINTS |
PR00105
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PIRSF | |||||||||||||||||||||||
SMART |
SM00293
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q9UBC3 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q9UBC3 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 1789 | ||||||||||||||||||||||
UniGene | Hs.643024 | ||||||||||||||||||||||
RefSeq | NP_787046 | ||||||||||||||||||||||
HUGO | HGNC:2979 | ||||||||||||||||||||||
OMIM | 602900 | ||||||||||||||||||||||
CCDS | CCDS13204 | ||||||||||||||||||||||
HPRD | 04209 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AF129267 AF129268 AF129269 AF156487 AF156488 AF176228 AF331857 AK299821 AK299915 AL035071 CH471077 | ||||||||||||||||||||||
GenPept | AAD31432 AAD31433 AAD31434 AAD53062 AAD53063 AAF04015 AAL57040 BAG61690 BAG61753 CAB53069 CAB53070 CAB53071 CAM27373 EAW76351 EAW76352 EAW76353 EAW76354 EAW76356 | ||||||||||||||||||||||