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    Nr5a1 nuclear receptor subfamily 5, group A, member 1 [ Mus musculus (house mouse) ]

    Gene ID: 26423, updated on 27-Nov-2024

    Summary

    Official Symbol
    Nr5a1provided by MGI
    Official Full Name
    nuclear receptor subfamily 5, group A, member 1provided by MGI
    Primary source
    MGI:MGI:1346833
    See related
    Ensembl:ENSMUSG00000026751 AllianceGenome:MGI:1346833
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    ELP; SF1; SF-1; Ad4BP; ELP-3; Ftzf1; STF-1; Ftz-F1
    Summary
    Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and chromatin binding activity. Involved in negative regulation of female gonad development and positive regulation of male gonad development. Acts upstream of or within several processes, including adrenal gland development; gonad development; and maintenance of protein location in nucleus. Located in nucleus. Part of RNA polymerase II transcription regulator complex. Is expressed in several structures, including central nervous system; endocrine gland; genitourinary system; hemolymphoid system; and respiratory system. Used to study hypogonadotropic hypogonadism. Human ortholog(s) of this gene implicated in 46,XX sex reversal 4; 46,XY sex reversal 3; Zellweger syndrome; primary ovarian insufficiency 7; and spermatogenic failure 8. Orthologous to human NR5A1 (nuclear receptor subfamily 5 group A member 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward adrenal adult (RPKM 325.2) See more
    Orthologs
    NEW
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    Genomic context

    See Nr5a1 in Genome Data Viewer
    Location:
    2 B; 2 24.42 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (38582668..38604554, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (38692656..38714542, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene proteasome (prosome, macropain) subunit, beta type 7 Neighboring gene STARR-positive B cell enhancer ABC_E4445 Neighboring gene STARR-seq mESC enhancer starr_04335 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:38499471-38499654 Neighboring gene 60S ribosomal protein L29 pseudogene Neighboring gene STARR-seq mESC enhancer starr_04336 Neighboring gene adhesion G protein-coupled receptor D2, pseudogene Neighboring gene predicted gene, 36744 Neighboring gene Nr5a1 enhancer region in intron 6 Neighboring gene Nr5a1 enhancer in intron 4 Neighboring gene Nr5a1 5' regulatory region Neighboring gene nuclear receptor subfamily 6, group A, member 1 Neighboring gene STARR-seq mESC enhancer starr_04337 Neighboring gene STARR-positive B cell enhancer mm9_chr2:38652720-38653021 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:38679812-38679965 Neighboring gene nuclear receptor subfamily 6, group A, member 1, opposite strand Neighboring gene microRNA 181a-2 Neighboring gene microRNA 181b-2

    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)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC124277, MGC124278

    Gene Ontology Provided by MGI

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

    General protein information

    Preferred Names
    steroidogenic factor 1
    Names
    adrenal 4-binding protein
    embryonal LTR-binding protein
    embryonal long terminal repeat-binding protein
    fushi tarazu 1 factor homolog
    fushi tarazu factor homolog 1
    steroid hormone receptor Ad4BP
    steroid hydroxylase positive regulator

    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.

    mRNA and Protein(s)

    1. NM_001316687.1NP_001303616.1  steroidogenic factor 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK134378, AL844842, CD348290
      Consensus CDS
      CCDS16011.1
      UniProtKB/Swiss-Prot
      P33242, Q812G5
      UniProtKB/TrEMBL
      Q3U0G1
      Related
      ENSMUSP00000108504.2, ENSMUST00000112883.8
      Conserved Domains (3) summary
      cd07070
      Location:237460
      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:147217
      MISS; MAPK-interacting and spindle-stabilizing protein-like
    2. NM_139051.3NP_620639.1  steroidogenic factor 1

      See identical proteins and their annotated locations for NP_620639.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK134378
      Consensus CDS
      CCDS16011.1
      UniProtKB/Swiss-Prot
      P33242, Q812G5
      UniProtKB/TrEMBL
      Q3U0G1
      Related
      ENSMUSP00000028084.5, ENSMUST00000028084.5
      Conserved Domains (3) summary
      cd07070
      Location:237460
      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:147217
      MISS; MAPK-interacting and spindle-stabilizing protein-like

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      38582668..38604554 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)