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DNMT3B - DNA (cytosine-5-)-methyltransferase 3 beta
Entrez Gene Name: DNA (cytosine-5-)-methyltransferase 3 beta
Entrez GeneID: Human(1789)
, Mouse(13436), Rat(444985)
, Mouse(13436), Rat(444985) Synonyms: DNA MTase HsaIIIB, DNMT3B, ICF, M.HsaIIIB, MGC124407
Gene Summary
- Human (1789): 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]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Biological Process
C-5 methylation of cytosine, cellular response to amino acid stimulus, DNA methylation, DNA methylation on cytosine within a CG sequence, methylation, methylation-dependent chromatin silencing, negative regulation of gene expression, epigenetic, negative regulation of histone H3-K9 methylation, negative regulation of transcription, DNA-dependent, positive regulation of gene expression, positive regulation of histone H3-K4 methylation, positive regulation of neuron differentiation, protein complex localization, regulation of gene expression by genetic imprinting, response to drug, response to ionizing radiation, S-adenosylhomocysteine metabolic process, S-adenosylmethioninamine metabolic process
Cellular Components
chromosome, centromeric region, cytoplasm, heterochromatin, intracellular membrane-bounded organelle, nuclear heterochromatin, nucleolus, nucleus
Literature References
- 16357870Viré E, Brenner C, Deplus R, Blanchon L, Fraga M, Didelot C, Morey L, Van Eynde A, Bernard D, Vanderwinden JM, Bollen M, Esteller M, Di Croce L, de Launoit Y, Fuks F. The Polycomb group protein EZH2 directly controls DNA methylation.Nature 2006 Feb 16;439(7078):871-4
- 12145218Kim GD, Ni J, Kelesoglu N, Roberts RJ, Pradhan S. Co-operation and communication between the human maintenance and de novo DNA (cytosine-5) methyltransferases.EMBO J 2002 Aug 1;21(15):4183-95
- 10555141Okano M, Bell DW, Haber DA, Li E. DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.Cell 1999 Oct 29;99(3):247-57
Molecular Functions
DNA (cytosine-5-)-methyltransferase activity, DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates, DNA binding, DNA-methyltransferase activity, metal ion binding, methyltransferase activity, protein binding, transcription corepressor activity, transferase activity, unmethylated CpG binding, zinc ion binding
Protein Domains
AdoMet_MTases, ATRX-homology domain, catalytic domain, DNA (cytosine-5-)-methyltransferase, DNA binding, enzyme, methyltransferase, protein binding, PWWP, transcription co-repressor, unmethylated CpG binding
Subcellular Locations
centromeres, chromatin fraction, chromosomes, Cytoplasm, cytoplasmic aggregates, heterochromatin, intracellular membrane-bounded organelle, nuclear chromatin, nuclear foci, nuclear fraction, nuclear matrix fraction, nucleolar fraction, nucleoli, Nucleus, Plasma Membrane