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DNA (cytosine-5-)-methyltransferase 3 beta
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| PDB rendering based on 1khc. The Protein Data Bank ( PDB) is a repository for 3-D structural data of Proteins and Nucleic acids These data typically obtained by X-ray crystallography | ||
| Available structures: 1khc | ||
| Identifiers | ||
| Symbol(s) | DNMT3B; ICF; M. The Human Genome Organisation (HUGO is an organization involved in the Human Genome Project, a project about mapping the human genome HsaIIIB | |
| External IDs | OMIM: 602900 MGI: 1261819 HomoloGene: 56000 | |
| EC number | 2.1.1.37 | |
| RNA expression pattern | ||
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| Orthologs | ||
| Human | Mouse | |
| Entrez | 1789 | 13436 |
| Ensembl | ENSG00000088305 | ENSMUSG00000027478 |
| Uniprot | Q9UBC3 | O88509 |
| Refseq | NM_006892 (mRNA) NP_008823 (protein) |
XM_001003158 (mRNA) XP_001003158 (protein) |
| Location | Chr 20: 30.81 - 30.86 Mb | Chr 2: 153.34 - 153.38 Mb |
| Pubmed search | [1] | [2] |
DNA (cytosine-5-)-methyltransferase 3 beta, also known as DNMT3B, is a protein associated with immunodeficiency, centromere instability and facial anomalies syndrome. The Mouse Genome Informatics (MGI website is run by The Jackson Laboratory. HomoloGene, a tool of the National Center for Biotechnology Information (NCBI is a system for automated detection of homologs (similarity attributable to descent This article is about the Enzyme Commission codes For the European Commission system for coding chemicals see EC-No. The Entrez Global Query Cross-Database Search System is a powerful Federated search engine or Web portal that allows users to search many discrete Health sciences Ensembl is a joint scientific project between the European Bioinformatics Institute and the Wellcome Trust Sanger Institute, which was launched in 1999 in response to the imminent UniProt is the uni versal prot ein resource a central repository of Protein data created by combining Swiss-Prot, TrEMBL PubMed is a free search engine for accessing the MEDLINE database of citations and abstracts of biomedical research articles ICF syndrome (or I mmunodeficiency C entromere instability and F acial anomalies syndrome) is a very rare Autosomal Recessive
CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. In Biology, the term epigenetics refers to changes in Gene expression caused by mechanisms other than changes in the underlying DNA sequence Embryogenesis is the process by which the Embryo is formed and develops 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. In Biochemistry, the DNA methyltransferase (DNA MTase family of Enzymes catalyze the transfer of a Methyl group to DNA. 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. Six alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [1]
References
Further reading
- Wijmenga C, Hansen RS, Gimelli G, et al. (2001). "Genetic variation in ICF syndrome: evidence for genetic heterogeneity. ". Hum. Mutat. 16 (6): 509–17. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 11102980.
- Okano M, Xie S, Li E (1998). "Cloning and characterization of a family of novel mammalian DNA (cytosine-5) methyltransferases. ". Nat. Genet. 19 (3): 219–20. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 9662389.
- Robertson KD, Uzvolgyi E, Liang G, et al. (1999). "The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors. ". Nucleic Acids Res. 27 (11): 2291–8. PMID 10325416.
- Xie S, Wang Z, Okano M, et al. (1999). "Cloning, expression and chromosome locations of the human DNMT3 gene family. ". Gene 236 (1): 87–95. PMID 10433969.
- Okano M, Bell DW, Haber DA, Li E (1999). "DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. ". Cell 99 (3): 247–57. PMID 10555141.
- Hansen RS, Wijmenga C, Luo P, et al. (2000). "The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. ". Proc. Natl. Acad. Sci. U. S. A. 96 (25): 14412–7. PMID 10588719.
- Xu GL, Bestor TH, Bourc'his D, et al. (2000). "Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. ". Nature 402 (6758): 187–91. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 10647011.
- Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination. ". Genome Res. 10 (11): 1788–95. PMID 11076863.
- Fuks F, Burgers WA, Godin N, et al. (2001). "Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription. ". EMBO J. 20 (10): 2536–44. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 11350943.
- Kang ES, Park CW, Chung JH (2002). "Dnmt3b, de novo DNA methyltransferase, interacts with SUMO-1 and Ubc9 through its N-terminal region and is subject to modification by SUMO-1. ". Biochem. Biophys. Res. Commun. 289 (4): 862–8. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 11735126.
- Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20. ". Nature 414 (6866): 865–71. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 11780052.
- Rhee I, Bachman KE, Park BH, et al. (2002). "DNMT1 and DNMT3b cooperate to silence genes in human cancer cells. ". Nature 416 (6880): 552–6. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 11932749.
- Hata K, Okano M, Lei H, Li E (2002). "Dnmt3L cooperates with the Dnmt3 family of de novo DNA methyltransferases to establish maternal imprints in mice. ". Development 129 (8): 1983–93. PMID 11934864.
- Beaulieu N, Morin S, Chute IC, et al. (2002). "An essential role for DNA methyltransferase DNMT3B in cancer cell survival. ". J. Biol. Chem. 277 (31): 28176–81. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 12015329.
- Saito Y, Kanai Y, Sakamoto M, et al. (2002). "Overexpression of a splice variant of DNA methyltransferase 3b, DNMT3b4, associated with DNA hypomethylation on pericentromeric satellite regions during human hepatocarcinogenesis. ". Proc. Natl. Acad. Sci. U. S. A. 99 (15): 10060–5. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 12110732.
- Kim GD, Ni J, Kelesoglu N, et al. (2002). "Co-operation and communication between the human maintenance and de novo DNA (cytosine-5) methyltransferases. ". EMBO J. 21 (15): 4183–95. PMID 12145218.
- Deplus R, Brenner C, Burgers WA, et al. (2002). "Dnmt3L is a transcriptional repressor that recruits histone deacetylase. ". Nucleic Acids Res. 30 (17): 3831–8. PMID 12202768.
- Shen H, Wang L, Spitz MR, et al. (2002). "A novel polymorphism in human cytosine DNA-methyltransferase-3B promoter is associated with an increased risk of lung cancer. ". Cancer Res. 62 (17): 4992–5. PMID 12208751.
- Shirohzu H, Kubota T, Kumazawa A, et al. (2003). "Three novel DNMT3B mutations in Japanese patients with ICF syndrome. ". Am. J. Med. Genet. 112 (1): 31–7. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 12239717.