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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
General
nuclear protein
orphan receptor
Properties
SIZE: entity length = 470 aa
MW = 52 kD
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: repeats {1-253}
MOTIF: consensus repeat {1-67}
LXXLL motif 1 {13-17}
consensus repeat {68-133}
LXXLL motif 2 {80-84}
consensus repeat {134-200}
LXXLL motif 3 {146-150}
consensus repeat {201-253}
binding site
SITE: 254-470
FOR-BINDING-OF: ligand
MOTIF: AF-2 {461-466}
Database Correlations
OMIM correlations
MORBIDMAP 300473
UniProt P51843
Pfam PF00104
Kegg hsa:190
References
- UniProt :accession P51843
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=NR0B1