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Description for Protein SOX10

SRY (sex determining region Y)-box 10
27 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • HMG: high mobility group
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K09270
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    SRY box 10; Transcription factor SOX10
    Approved Symbol:
    SOX10
    (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:

  • Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, waardenburg syndrome, and hirschsprung disease(Pd);
  • Waardenburg-shah syndrome(Pd);
  • Yemenite deaf-blind hypopigmentation syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03752 Entrez Gene ID: 6663 OMIM ID: 602229 Swissprot Accession: P56693;