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Description for Protein DNMT3B

DNA (cytosine-5-)-methyltransferase 3 beta
25 total interacting proteins; 7 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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. Six alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • PWWP: domain with conserved PWWP motif
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.1.1.37
    KEGG - Orthology:
    K00558
    KEGG - Pathway(s):
    hsa00270; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    DNA(cytosine 5) methyltransferase 3B; DNA methyltransferase Hsa3B; DNA MTase Hsa3B; M.Hsa3B; EC 2.1.1.37; DNA cytosine-5 methyltransferase 3 beta isoform 6; DNA cytosine-5 methyltransferase 3 beta isoform 2; DNA cytosine-5 methyltransferase 3 beta isoform 3; DNA cytosine-5 methyltransferase 3 beta isoform 1
    Approved Symbol:
    DNMT3B
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 19
    Human (de-) phosphorylation sites: 19; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Immunodeficiency-centromeric instability-facial anomalies syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 04209 Entrez Gene ID: 1789 OMIM ID: 602900 Swissprot Accession: Q9UBC3;