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Description for Protein NR0B1

nuclear receptor subfamily 0, group B, member 1
11 total interacting proteins; 4 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • HOLI: Ligand binding domain of hormone receptors
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K08562
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    AHC; AHCH; AHX; DAX1; NROB1; Nuclear receptor 0B1; Nuclear receptor DAX-1; Adrenal hypoplasia protein; Nuclear receptor subfamily 0 group B member 1; DSS-AHC critical region on the X chromosome protein 1
    Approved Symbol:
    NR0B1
    (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):

  • Dexamethasone(db);
  • Tretinoin(db)

    Associated Genetic Diseases:

  • Adrenal hypoplasia, congenital(Pd);
  • Adrenal hypoplasia, congenital, with precocious puberty(Pd);
  • Adrenal insufficiency, progressive, and hypogonadotropic hypogonadism(Pd);
  • Dosage-sensitive sex reversal(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 08362 Entrez Gene ID: 190 OMIM ID: 300473 Swissprot Accession: P51843;