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Description for Protein NR5A1

nuclear receptor subfamily 5, group A, member 1
26 total interacting proteins; 4 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • ZnF_C4: c4 zinc finger in nuclear hormone receptors
  • HOLI: Ligand binding domain of hormone receptors
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K08560
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    SF1; Steroidogenic factor 1; Adrenal 4 binding protein; AD4BP; STF 1; Steroid hormone receptor AD4BP; ELP; FTZ1; FTZF1; Fushi tarazu factor homolog 1
    Approved Symbol:
    NR5A1
    (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):

  • (2R)-3-{[{[(2S)-2,3-DIHYDROXYPROPYL]OXY}(HYDROXY)PHOSPHORYL]OXY}-2-[(9E)-HEXADEC-9-ENOYLOXY]PROPYL (9E)-OCTADEC-9-ENOATE(db);
  • Phosphatidyl ethanol(db)

    Associated Genetic Diseases:

  • Adrenocortical insufficiency without ovarian defect(Pd);
  • Sex reversal, XY, with adrenal failure(Pd);
  • Sex reversal, XY, without adrenal failure(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01702 Entrez Gene ID: 2516 OMIM ID: 184757 Swissprot Accession: Q13285;