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Description for Protein SRY

sex determining region Y
5 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • NLS: Nuclear localization signal
  • HMG: high mobility group
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K09266
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Sex determining region Y; Testis determining factor; Testis determining factor on Y; TDF; TDY
    Approved Symbol:
    SRY
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; 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:

  • Gonadal dysgenesis, partial(Pd);
  • Gonadal dysgenesis, XY female type(Pd);
  • Sex reversal with partial ovarian function(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 08364 Entrez Gene ID: 6736 OMIM ID: 480000 Swissprot Accession: Q05066; A7WPU8;