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Description for Protein SOX9

SRY (sex determining region Y)-box 9
13 total interacting proteins; 5 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [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 9; CMPD1; CMD1; SRA1
    Approved Symbol:
    SOX9
    (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:

  • Acampomelic campomelic dysplasia(Pd);
  • Campomelic dysplasia(Pd);
  • Campomelic dysplasia with autosomal sex reversal(Pd);
  • Campomelic dysplasia with variable autosomal sex reversal(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 06427 Entrez Gene ID: 6662 OMIM ID: 608160 Swissprot Accession: P48436;