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Nr0b1 nuclear receptor subfamily 0, group B, member 1 [ Mus musculus (house mouse) ]

Gene ID: 11614, updated on 13-Dec-2022

Summary

Official Symbol
Nr0b1provided by MGI
Official Full Name
nuclear receptor subfamily 0, group B, member 1provided by MGI
Primary source
MGI:MGI:1352460
See related
Ensembl:ENSMUSG00000025056 AllianceGenome:MGI:1352460
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
AHX; Ahc; Ahch; Dax1; DAX-1
Summary
This gene encodes an orphan nuclear receptor protein that plays a key role in differentiation of the gonads. This protein regulates steroidogenic factor 1 (Sf-1) in a dose-dependent manner, sometimes functioning as a repressor of SF-1 target genes, and sometimes functioning as a co-activator. Overexpression of this gene can cause feminization of the XY male gonads. This gene is also involved in the maintenance of embryonic stem cell pluripotancy. Mutations in the related gene in human cause congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, May 2015]
Expression
Biased expression in adrenal adult (RPKM 34.4), ovary adult (RPKM 8.3) and 1 other tissue See more
Orthologs
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Genomic context

See Nr0b1 in Genome Data Viewer
Location:
X C1; X 39.67 cM
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) X NC_000086.8 (85235381..85239553)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (86191775..86195947)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 54063 Neighboring gene spermatogenesis associated multipass transmembrane protein 3 Neighboring gene Nr0b1 5' regulatory region Neighboring gene Nr0b1 intronic regulatory region Neighboring gene MAGE family member B4 Neighboring gene phosphoenolpyruvate carboxykinase 2 (mitochondrial) pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (5) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables AF-2 domain binding ISO
Inferred from Sequence Orthology
more info
 
enables DNA hairpin binding ISO
Inferred from Sequence Orthology
more info
 
enables RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA binding ISO
Inferred from Sequence Orthology
more info
 
enables RNA polymerase II-specific DNA-binding transcription factor binding ISO
Inferred from Sequence Orthology
more info
 
enables double-stranded DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables nuclear receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein domain specific binding ISO
Inferred from Sequence Orthology
more info
 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
NOT enables sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables transcription corepressor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables transcription corepressor activity IGI
Inferred from Genetic Interaction
more info
PubMed 
enables transcription corepressor activity ISO
Inferred from Sequence Orthology
more info
 
enables transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within Leydig cell differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within Leydig cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within Sertoli cell differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within Sertoli cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in adrenal gland development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within adrenal gland development IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in adrenal gland development ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within endodermal cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in gonad development ISO
Inferred from Sequence Orthology
more info
 
involved_in male gonad development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within male gonad development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in male gonad development ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within male sex determination IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within male sex determination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of DNA-binding transcription factor activity ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of intracellular steroid hormone receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of negative regulation of steroid biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
involved_in protein localization ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within response to immobilization stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within sex determination IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in spermatogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within spermatogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in centriolar satellite ISO
Inferred from Sequence Orthology
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
 
located_in membrane ISO
Inferred from Sequence Orthology
more info
 
located_in nuclear speck ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
located_in polysomal ribosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in polysomal ribosome ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
nuclear receptor subfamily 0 group B member 1
Names
adrenal hypoplasia congenita-like protein
adrenal hypoplasia, congenital homolog
nuclear receptor DAX-1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_007430.5NP_031456.1  nuclear receptor subfamily 0 group B member 1

    See identical proteins and their annotated locations for NP_031456.1

    Status: REVIEWED

    Source sequence(s)
    AK133411, AK141239, BB404032
    Consensus CDS
    CCDS30260.1
    UniProtKB/Swiss-Prot
    O09147, Q61066
    UniProtKB/TrEMBL
    Q53ZY9
    Related
    ENSMUSP00000026036.5, ENSMUST00000026036.5
    Conserved Domains (2) summary
    cd07350
    Location:233466
    NR_LBD_Dax1; The ligand binding domain of DAX1 protein, a nuclear receptor lacking DNA binding domain
    pfam14046
    Location:147
    NR_Repeat; Nuclear receptor repeat

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    85235381..85239553
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)