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Description for Protein GLI3

GLI family zinc finger 3
14 total interacting proteins; 4 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • ZNFC2: zinc finger
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K06230
    KEGG - Pathway(s):
    hsa04340; hsa05200; hsa05217
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Oncogene Gli3; Zinc finger protein GLI3; PAPA1; PPDIV; PHS; ACLS; GCPS; PAPA; PAPB; PAP-A; GLI-kruppel family member GLI3
    Approved Symbol:
    GLI3
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 3
    Human (de-) phosphorylation sites: 3; 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:

  • Acrocallosal syndrome(Pd);
  • Greig cephalopolysyndactyly syndrome(Pd);
  • Pallister-Hall syndrome(Pd);
  • Postaxial polydactyly, type A1/B(Pd);
  • Preaxial polydactyly, type IV(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01313 Entrez Gene ID: 2737 OMIM ID: 165240 Swissprot Accession: P10071;