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Description for Protein WT1

Wilms tumor 1
14 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is mutated in a small subset of patients with Wilm's tumors. This gene exhibits complex tissue-specific and polymorphic imprinting pattern, with biallelic, and monoallelic expression from the maternal and paternal alleles in different tissues. Multiple transcript variants have been described. In several variants, there is evidence for the use of a non-AUG (CUG) translation initiation site upstream of and in-frame with the first AUG. Authors of PMID:7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat, and that this process is tissue-restricted and developmentally regulated. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • ZNFC2: zinc finger
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K09234
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    GUD; WAGR; WIT-2; WT33; Wilms tumor protein; Wilms tumor 1 isoform A; Wilms tumor 1 isoform B; Wilms tumor 1 isoform C; Wilms tumor 1 isoform D
    Approved Symbol:
    WT1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 4
    Human (de-) phosphorylation sites: 4; 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:

  • Denys-Drash syndrome(Pd);
  • Frasier syndrome(Pd);
  • Mesangial sclerosis, isolated diffuse(Pd);
  • Mesothelioma(Pd);
  • Wagr syndrome(Pd);
  • Wilms tumor(Pd);
  • Wilms tumor, familial(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 06163 Entrez Gene ID: 7490 OMIM ID: 607102 Swissprot Accession: P19544; B3KSA5;