DNMT3B

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DNMT3B
Protein DNMT3B PDB 1khc.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesDNMT3B, ICF, ICF1, M.HsaIIIB, DNA (cytosine-5-)-methyltransferase 3 beta, DNA methyltransferase 3 beta
External IDsOMIM: 602900 MGI: 1261819 HomoloGene: 56000 GeneCards: DNMT3B
Gene location (Human)
Chromosome 20 (human)
Chr.Chromosome 20 (human)[1]
Chromosome 20 (human)
Genomic location for DNMT3B
Genomic location for DNMT3B
Band20q11.21Start32,762,385 bp[1]
End32,809,356 bp[1]
RNA expression pattern
PBB GE DNMT3B 220668 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 20: 32.76 – 32.81 MbChr 2: 153.65 – 153.69 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

DNA (cytosine-5-)-methyltransferase 3 beta, is an enzyme that in humans in encoded by the DNMT3B gene.[5] Mutation in this gene are associated with immunodeficiency, centromere instability and facial anomalies syndrome.[6]

Function[edit]

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. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined.[5]

Clinical significance[edit]

immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome is a result of defects in lymphocyte maturation resulting from aberrant DNA methylation caused by mutations in the DNMT3B gene.[6]

Variants of the gene can also contribute to nicotine dependency.[7]

Interactions[edit]

DNMT3B has been shown to interact with:

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000088305 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027478 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ a b "Entrez Gene: DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta".
  6. ^ a b Ehrlich M (October 2003). "The ICF syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease". Clinical Immunology. 109 (1): 17–28. doi:10.1016/S1521-6616(03)00201-8. PMID 14585272.
  7. ^ Hancock DB, Guo Y, Reginsson GW, Gaddis NC, Lutz SM, Sherva R, et al. (October 2017). "Genome-wide association study across European and African American ancestries identifies a SNP in DNMT3B contributing to nicotine dependence". Molecular Psychiatry. doi:10.1038/mp.2017.193. PMC 5882602. PMID 28972577.
  8. ^ a b c Lehnertz B, Ueda Y, Derijck AA, Braunschweig U, Perez-Burgos L, Kubicek S, Chen T, Li E, Jenuwein T, Peters AH (July 2003). "Suv39h-mediated histone H3 lysine 9 methylation directs DNA methylation to major satellite repeats at pericentric heterochromatin". Current Biology. 13 (14): 1192–200. doi:10.1016/s0960-9822(03)00432-9. PMID 12867029.
  9. ^ a b Kim GD, Ni J, Kelesoglu N, Roberts RJ, Pradhan S (August 2002). "Co-operation and communication between the human maintenance and de novo DNA (cytosine-5) methyltransferases". The EMBO Journal. 21 (15): 4183–95. doi:10.1093/emboj/cdf401. PMC 126147. PMID 12145218.
  10. ^ Ling Y, Sankpal UT, Robertson AK, McNally JG, Karpova T, Robertson KD. "Modification of de novo DNA methyltransferase 3a (Dnmt3a) by SUMO-1 modulates its interaction with histone deacetylases (HDACs) and its capacity to repress transcription". Nucleic Acids Research. 32 (2): 598–610. doi:10.1093/nar/gkh195. PMC 373322. PMID 14752048.
  11. ^ a b c Geiman TM, Sankpal UT, Robertson AK, Chen Y, Mazumdar M, Heale JT, Schmiesing JA, Kim W, Yokomori K, Zhao Y, Robertson KD. "Isolation and characterization of a novel DNA methyltransferase complex linking DNMT3B with components of the mitotic chromosome condensation machinery". Nucleic Acids Research. 32 (9): 2716–29. doi:10.1093/nar/gkh589. PMC 419596. PMID 15148359.
  12. ^ a b Kang ES, Park CW, Chung JH (December 2001). "Dnmt3b, de novo DNA methyltransferase, interacts with SUMO-1 and Ubc9 through its N-terminal region and is subject to modification by SUMO-1". Biochemical and Biophysical Research Communications. 289 (4): 862–8. doi:10.1006/bbrc.2001.6057. PMID 11735126.

Further reading[edit]

External links[edit]