nuclear receptor subfamily 0 group B member 1; nuclear receptor DAX-1; DSS-AHC critical region on the X chromosome protein 1 (NR0B1, AHC, DAX1)

Function

• orphan nuclear receptor
• component of a cascade required for 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
• role in development of the embryo & in maintenance of embryonic stem cell pluripotency (putative)
• interacts with NR5A1/SF-1, NR5A2, NR0B2 & with COPS2

Structure

• homodimer
• homodimerization involved an interaction between amino & carboxy termini involving LXXLL motifs & steroid binding domain (AF-2 motif)
• heterodimerizes with NR5A1/SF-1 & NROB2 through its N-terminal LXXLL motifs
• belongs to the nuclear hormone receptor family, NR0 subfamily

Compartment

• nucleus, cytoplasm
• shuttles between cytoplasm & nucleus
• homodimers exist in cytoplasm & in nucleus

Alternative splicing

named isoforms=2

Expression

• isoform 2 more abundant than isoform 1 in all tissues except testis where they are nearly equal

Pathology

• defects in NR0B1 are the cause of X-linked adrenal hypoplasia congenital
• XY individuals with partial duplication of chromosome X short arm including the NR0B1 gene (SRY gene intact) show dosage-sensitive sex reversal (DSS)
• individuals with deletion of this region develop as males
• genes within the DSS region are, therefore, not essential for testis development, but, when present in a double dose, interfere with testis formation

More general terms

• nuclear protein
• orphan receptor

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:190
• OMIM: https://mirror.omim.org/entry/300018
• OMIM: https://mirror.omim.org/entry/300200
• OMIM: https://mirror.omim.org/entry/300473
• UniProt: http://www.uniprot.org/uniprot/P51843.html