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

    Gene ID: 11614, updated on 9-Jul-2017
    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 Vega:OTTMUSG00000017945
    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]
    Orthologs
    Location:
    X C1; X 39.67 cM
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) X NC_000086.7 (86191775..86195947)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) X NC_000086.6 (83437114..83441283)

    Chromosome X - NC_000086.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 5430427O19 gene Neighboring gene predicted gene 14762 Neighboring gene spermatogenesis associated multipass transmembrane protein 3 Neighboring gene phosphoenolpyruvate carboxykinase 2 (mitochondrial) pseudogene Neighboring gene melanoma antigen, family B, 4

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    AF-2 domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    DNA hairpin binding ISO
    Inferred from Sequence Orthology
    more info
     
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    double-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    NOT 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 ISO
    Inferred from Sequence Orthology
    more info
     
    transcription corepressor activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    transcription corepressor activity ISO
    Inferred from Sequence Orthology
    more info
     
    transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    Leydig cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Sertoli cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    adrenal gland development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    adrenal gland development ISO
    Inferred from Sequence Orthology
    more info
     
    cell differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    gonad development ISO
    Inferred from Sequence Orthology
    more info
     
    male gonad development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    male gonad development ISO
    Inferred from Sequence Orthology
    more info
     
    male sex determination IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    male sex determination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of intracellular steroid hormone receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of sequence-specific DNA binding transcription factor activity ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription, DNA-templated ISO
    Inferred from Sequence Orthology
    more info
     
    protein localization ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    response to immobilization stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sex determination IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    steroid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    steroid hormone mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    membrane ISO
    Inferred from Sequence Orthology
    more info
     
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    polysomal ribosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    polysomal ribosome ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    nuclear receptor subfamily 0 group B member 1
    Names
    adrenal hypoplasia congenita-like protein
    adrenal hypoplasia, congenital homolog
    nuclear receptor DAX-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.

    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
      Q61066
      UniProtKB/TrEMBL
      Q53ZY9
      Related
      ENSMUSP00000026036.4, OTTMUSP00000019489, ENSMUST00000026036.4, OTTMUST00000043377
      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 106 details...Open this link in a new tab

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000086.7 Reference GRCm38.p4 C57BL/6J

      Range
      86191775..86195947
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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