NP_000466.2
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
43,590 Da
NCBI Official Full Name
nuclear receptor subfamily 0 group B member 1
NCBI Official Synonym Full Names
nuclear receptor subfamily 0 group B member 1
NCBI Official Synonym Symbols
AHC; AHX; DSS; GTD; HHG; AHCH; DAX1; DAX-1; NROB1; SRXY2 [Similar Products]
NCBI Protein Information
nuclear receptor subfamily 0 group B member 1
UniProt Protein Name
Nuclear receptor subfamily 0 group B member 1
UniProt Synonym Protein Names
DSS-AHC critical region on the X chromosome protein 1; Nuclear receptor DAX-1
UniProt Synonym Gene Names
UniProt Entry Name
NR0B1_HUMAN
NCBI Summary for NR0B1
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, Jul 2008]
UniProt Comments for NR0B1
NR0B1: 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.
Protein type: Nuclear receptor
Chromosomal Location of Human Ortholog: Xp21.3
Cellular Component: cytoplasm; membrane; nucleoplasm; nucleus; polysomal ribosome
Molecular Function: AF-2 domain binding; 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 activity; steroid hormone receptor binding; transcription corepressor activity; transcription factor binding
Biological Process: adrenal gland development; gonad development; hypothalamus development; intracellular receptor-mediated signaling pathway; Leydig cell differentiation; male gonad development; male sex determination; negative regulation of cell differentiation; 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; pituitary gland development; protein localization; Sertoli cell differentiation; spermatogenesis; steroid biosynthetic process; steroid hormone mediated signaling; transcription initiation from RNA polymerase II promoter
Disease: 46,xy Sex Reversal 2; Adrenal Hypoplasia, Congenital
Research Articles on NR0B1
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Products associated with NR0B1 blocking peptide
Pathways associated with NR0B1 blocking peptide
Diseases associated with NR0B1 blocking peptide
Organs/Tissues associated with NR0B1 blocking peptide
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