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Description for Protein WBSCR22

Williams Beuren syndrome chromosome region 22
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(secretome: 1)
Summary:
This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • NLS: Nuclear localization signal
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.1.1.-
    KEGG - Orthology:
    K00599
    KEGG - Pathway(s):
    hsa00340; hsa00350; hsa00450
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    WBMT; PP3381; HUSSY 3; MGC2022; MGC5140; HASJ4442; MGC19709; Putative methyltransferase HUSSY 03; EC 2.1.1.-
    Approved Symbol:
    WBSCR22
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; 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:

    None Available
    		Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 15659 Entrez Gene ID: 114049 OMIM ID: - Swissprot Accession: O43709; A8K501;