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

    Gene ID: 2516, updated on 22-Apr-2024

    Summary

    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 MIM:184757; AllianceGenome:HGNC:7983
    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; SRXX4; SRXY3; hSF-1
    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]
    Annotation information
    Note: SF1 (Gene ID: 7536) and NR5A1 (Gene ID: 2516) share the SF1 symbol/alias in common. SF1 is a widely used alternative name for nuclear receptor subfamily 5 group A member 1 (NR5A1), which can be confused with the official symbol for SF1 (splicing factor 1). [01 Jun 2018]
    Expression
    Biased expression in adrenal (RPKM 53.3), spleen (RPKM 52.8) and 2 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NR5A1 in Genome Data Viewer
    Location:
    9q33.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (124481236..124507399, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (136679465..136705624, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (127243515..127269678, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902267 Neighboring gene proteasome 20S subunit beta 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:127162229-127162772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:127162773-127163315 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:127173920-127175119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28985 Neighboring gene uncharacterized LOC105376270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:127202115-127202615 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:127212355-127212879 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:127212880-127213404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:127213405-127213929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:127244219-127244996 Neighboring gene adhesion G protein-coupled receptor D2 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:127248727-127248904 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20263 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:127263337-127263838 Neighboring gene NR5A1 5' promoter region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:127274335-127274887 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:127297992-127298492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28986 Neighboring gene nuclear receptor subfamily 6 group A member 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:127336756-127337955 Neighboring gene RAN binding protein 1 pseudogene Neighboring gene RNA, 7SL, cytoplasmic 302, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    46,XX sex reversal 4 Compare labs
    46,XY sex reversal 3
    MedGen: C3489793 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
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-02-24)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2021-02-24)

    ClinGen Genome Curation Page

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables nuclear receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phospholipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription coregulator binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in Leydig cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in Sertoli cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in adrenal gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in female gonad development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in hormone metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hormone-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in luteinization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in maintenance of protein location in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in male gonad development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in male sex determination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of female gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of male gonad development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in primary sex determination TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of steroid biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sex determination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in tissue development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of RNA polymerase II transcription regulator complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    steroidogenic factor 1
    Names
    STF-1
    adrenal 4 binding protein
    fushi tarazu factor homolog 1
    nuclear receptor AdBP4
    steroid hormone receptor Ad4BP
    steroidogenic factor 1 nuclear receptor
    steroidogenic factor-1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5022..31185
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004959.5NP_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/Swiss-Prot
      O15196, Q13285, Q5T6F5
      UniProtKB/TrEMBL
      B6ZGU8, F1D8R8
      Related
      ENSP00000362690.4, ENST00000373588.9
      Conserved Domains (3) 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
      pfam15822
      Location:140221
      MISS; MAPK-interacting and spindle-stabilizing protein-like

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      124481236..124507399 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      136679465..136705624 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)