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Description for Protein PAX3

paired box 3
20 total interacting proteins; 4 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • HOX: Homeodomain
  • PAX: Paired Box domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K09381
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Paired box homeotic gene 3; CDHS; HUP2; WS1; Paired domain gene HuP2; Paired domain gene 3; MGC120381; MGC120382; MGC120383; MGC120384; PAX3/FKHR fusion gene; Paired box gene 3; Paired box gene 3 isoform PAX3e; Paired box gene 3 isoform PAX3d; Paired box gene 3 isoform PAX3; Paired box gene 3 isoform PAX3h; Paired box gene 3 isoform PAX3g; Paired box gene 3 isoform PAX3a; Paired box gene 3 isoform PAX3b
    Approved Symbol:
    PAX3
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; 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:

  • Craniofacial-deafness-hand syndrome(Pd);
  • Waardenburg syndrome with meningomyelocele(Pd);
  • Waardenburg syndrome, type I(Pd);
  • Waardenburg syndrome, type II(Pd);
  • Waardenburg syndrome, type III(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 8 : 0
  • Isoform 7 : 0
  • Isoform 6 : 0
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 09421 Entrez Gene ID: 5077 OMIM ID: 606597 Swissprot Accession: P23760; Q86UQ2; Q494Z3;