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    NR5A1 nuclear receptor subfamily 5, group A, member 1 [ Homo sapiens (human) ]

    Gene ID: 2516, updated on 30-Jun-2015
    Official Symbol
    NR5A1provided by HGNC
    Official Full Name
    nuclear receptor subfamily 5, group A, member 1provided by HGNC
    Primary source
    HGNC:HGNC:7983
    See related
    Ensembl:ENSG00000136931; HPRD:01702; MIM:184757; Vega:OTTHUMG00000020655
    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
    ELP; SF1; FTZ1; POF7; SF-1; AD4BP; FTZF1; SPGF8; SRXY3
    Summary
    The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008]
    Orthologs
    See NR5A1 in Epigenomics, MapViewer
    Location:
    9q33
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 9 NC_000009.12 (124481232..124507448, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (127243515..127269769, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene NIMA-related kinase 6 Neighboring gene uncharacterized LOC100129034 Neighboring gene proteasome (prosome, macropain) subunit, beta type, 7 Neighboring gene uncharacterized LOC105376270 Neighboring gene adhesion G protein-coupled receptor D2 Neighboring gene nuclear receptor subfamily 6, group A, member 1 Neighboring gene RAN binding protein 1 pseudogene Neighboring gene MIR181A2 host gene Neighboring gene microRNA 181a-2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    46,XY sex reversal, type 3
    MedGen: C2751824 OMIM: 612965 GeneReviews: Not available
    Compare labs
    Premature ovarian failure 7
    MedGen: C2751825 OMIM: 612964 GeneReviews: Not available
    Compare labs
    Spermatogenic failure 8
    MedGen: C3151406 OMIM: 613957 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-05-10)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-05-10)

    ClinGen Genome Curation PagePubMed
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA polymerase II distal enhancer sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromatin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    double-stranded DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    phospholipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    steroid hormone receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    transcription coactivator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    adrenal gland development IEA
    Inferred from Electronic Annotation
    more info
     
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    gene expression TAS
    Traceable Author Statement
    more info
     
    hormone metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    luteinization IEA
    Inferred from Electronic Annotation
    more info
     
    maintenance of protein location in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    male gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organismal aging IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of female gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of male gonad development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    primary sex determination TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of steroid biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    steroid hormone mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    transcription initiation from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    RNA polymerase II transcription factor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    steroidogenic factor 1
    Names
    STF-1
    adrenal 4 binding protein
    adrenal 4-binding protein
    fushi tarazu factor homolog 1
    nuclear receptor AdBP4
    steroid hormone receptor Ad4BP
    steroidogenic factor 1 nuclear receptor
    steroidogenic factor-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_008176.1 RefSeqGene

      Range
      5001..31185
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004959.4NP_004950.2  steroidogenic factor 1

      See identical proteins and their annotated locations for NP_004950.2

      Status: REVIEWED

      Source sequence(s)
      AK090858, BC032501, U76388
      Consensus CDS
      CCDS6856.1
      UniProtKB/TrEMBL
      F1D8R8
      UniProtKB/Swiss-Prot
      Q13285
      Related
      ENSP00000362690, OTTHUMP00000022104, ENST00000373588, OTTHUMT00000054029
      Conserved Domains (2) summary
      cd07070
      Location:223459
      NR_LBD_SF-1; The ligand binding domain of nuclear receptor steroidogenic factor 1, a member of nuclear receptor superfamily
      cd07167
      Location:13105
      NR_DBD_Lrh-1_like; The DNA-binding domain of Lrh-1 like nuclear receptor family like is composed of two C4-type zinc fingers

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p2 Primary Assembly

      Range
      124481232..124507448
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005251872.3XP_005251929.1  

      Conserved Domains (2) summary
      cd07070
      Location:149372
      NR_LBD_SF-1; The ligand binding domain of nuclear receptor steroidogenic factor 1, a member of nuclear receptor superfamily
      cl02596
      Location:118
      NR_DBD_like; DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
    2. XM_005251871.2XP_005251928.1  

      See identical proteins and their annotated locations for XP_005251928.1

      UniProtKB/TrEMBL
      F1D8R8
      UniProtKB/Swiss-Prot
      Q13285
      Conserved Domains (2) summary
      cd07070
      Location:223459
      NR_LBD_SF-1; The ligand binding domain of nuclear receptor steroidogenic factor 1, a member of nuclear receptor superfamily
      cd07167
      Location:13105
      NR_DBD_Lrh-1_like; The DNA-binding domain of Lrh-1 like nuclear receptor family like is composed of two C4-type zinc fingers
    3. XM_011518455.1XP_011516757.1  

      See identical proteins and their annotated locations for XP_011516757.1

      Conserved Domains (2) summary
      cd07070
      Location:223459
      NR_LBD_SF-1; The ligand binding domain of nuclear receptor steroidogenic factor 1, a member of nuclear receptor superfamily
      cd07167
      Location:13105
      NR_DBD_Lrh-1_like; The DNA-binding domain of Lrh-1 like nuclear receptor family like is composed of two C4-type zinc fingers
    4. XM_011518456.1XP_011516758.1  

      Conserved Domains (2) summary
      cd07167
      Location:13105
      NR_DBD_Lrh-1_like; The DNA-binding domain of Lrh-1 like nuclear receptor family like is composed of two C4-type zinc fingers
      cl11397
      Location:236291
      NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      127392508..127418653
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)