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NR0B1 nuclear receptor subfamily 0, group B, member 1 [ Homo sapiens (human) ]

Gene ID: 190, updated on 11-Sep-2014
Official Symbol
NR0B1provided by HGNC
Official Full Name
nuclear receptor subfamily 0, group B, member 1provided by HGNC
Primary source
HGNC:HGNC:7960
See related
HPRD:08362; MIM:300473
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AHC; AHX; DSS; GTD; HHG; AHCH; DAX1; DAX-1; NROB1; SRXY2
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, Jul 2008]
See NR0B1 in Epigenomics, MapViewer
Location:
Xp21.3
Exon count:
2
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (30304422..30309378, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (30322539..30327495, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene melanoma antigen family B, 4 Neighboring gene melanoma antigen family B, 1 Neighboring gene phospholipase C, epsilon 1 pseudogene Neighboring gene chromosome X open reading frame 21 Neighboring gene CDC28 protein kinase regulatory subunit 1B pseudogene 6

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
46,XY sex reversal, type 2
MedGen: C1848296 OMIM: 300018 GeneReviews: Not available
Compare labs
Congenital adrenal hypoplasia, X-linked Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-10-04)

ISCA Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-10-04)

ISCA Genome Curation Page
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Nuclear Receptor transcription pathway, organism-specific biosystem (from REACTOME)
    Nuclear Receptor transcription pathway, organism-specific biosystemA classic example of bifunctional transcription factors is the family of Nuclear Receptor (NR) proteins. These are DNA-binding transcription factors that bind certain hormones, vitamins, and other s...
  • Nuclear Receptors, organism-specific biosystem (from WikiPathways)
    Nuclear Receptors, organism-specific biosystemNuclear receptors are a class of proteins found within the interior of cells that are responsible for sensing the presence of steroid and thyroid hormones and certain other molecules. In response, th...
  • Regulation of Androgen receptor activity, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of Androgen receptor activity, organism-specific biosystem
    Regulation of Androgen receptor activity
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
AF-2 domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
DNA hairpin binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
steroid hormone receptor activity IEA
Inferred from Electronic Annotation
more info
 
steroid hormone receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription corepressor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Leydig cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Sertoli cell differentiation IEA
Inferred from Electronic Annotation
more info
 
adrenal gland development IMP
Inferred from Mutant Phenotype
more info
PubMed 
gene expression TAS
Traceable Author Statement
more info
 
gonad development IMP
Inferred from Mutant Phenotype
more info
PubMed 
hypothalamus development NAS
Non-traceable Author Statement
more info
PubMed 
intracellular receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
intracellular receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
male gonad development IMP
Inferred from Mutant Phenotype
more info
PubMed 
male sex determination IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of intracellular steroid hormone receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of sequence-specific DNA binding transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
pituitary gland development NAS
Non-traceable Author Statement
more info
PubMed 
protein localization IDA
Inferred from Direct Assay
more info
PubMed 
response to immobilization stress IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
steroid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
steroid hormone mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
polysomal ribosome IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
nuclear receptor subfamily 0 group B member 1
Names
nuclear receptor subfamily 0 group B member 1
nuclear receptor DAX-1
nuclear hormone receptor
DSS-AHC critical region on the X chromosome protein 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009814.1 

    Range
    5001..9957
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000475.4NP_000466.2  nuclear receptor subfamily 0 group B member 1

    See proteins identical to NP_000466.2

    Status: REVIEWED

    Source sequence(s)
    AW612655, BC011564, BI772108
    Consensus CDS
    CCDS14223.1
    UniProtKB/TrEMBL
    F1D8P4
    UniProtKB/Swiss-Prot
    P51843
    Conserved Domains (2) summary
    cd07350
    Location:231464
    Blast Score: 1101
    NR_LBD_Dax1; The ligand binding domain of DAX1 protein, a nuclear receptor lacking DNA binding domain
    pfam14046
    Location:134181
    Blast Score: 205
    NR_Repeat; Nuclear receptor repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    30304422..30309378
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    28059200..28064172
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    30353361..30358333
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)