orphan nuclear receptor. Component of a cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis. Acts as a coregulatory protein that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions. May also have a role in the development of the embryo and in the maintenance of embryonic stem cell pluripotency. Homodimerizes with STF-1, NR5A2, NR0B2 and with COPS2. Shuttles between the cytoplasm and nucleus. Homodimers exits in the cytoplasm and in the nucleus. Homodimerization involved an interaction between amino and carboxy termini involving LXXLL motifs and steroid binding domain (AF-2 motif). Heterodimerizes with STF-1 and NROB2 through its N-terminal LXXLL motifs. Defects in NR0B1 are the cause of congenital X-linked adrenal hypoplasia. Two alternatively spliced human isoforms have been described. Note: This description may include information from UniProtKB.
Molecular Function: DNA binding; DNA hairpin binding; ligand-dependent nuclear receptor activity; protein binding; protein domain specific binding; protein homodimerization activity; RNA binding; sequence-specific DNA binding; steroid hormone receptor binding; transcription corepressor activity; transcription factor binding
Biological Process: adrenal gland development; gonad development; male gonad development; negative regulation of steroid hormone receptor signaling pathway; negative regulation of transcription factor activity; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; protein localization; steroid biosynthetic process; transcription initiation from RNA polymerase II promoter
Alt. Names/Synonyms: AHC; AHCH; AHX; DAX-1; DAX1; DSS; DSS-AHC critical region on the X chromosome protein 1; GTD; HHG; NR0B1; NROB1; nuclear hormone receptor; Nuclear receptor DAX-1; Nuclear receptor subfamily 0 group B member 1; nuclear receptor subfamily 0, group B, member 1