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

Gene ID: 26423, updated on 2-Apr-2024

Summary

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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, Apr 2022]
Expression
Restricted expression toward adrenal adult (RPKM 325.2) See more
Orthologs
human all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Intronic Enhancer Is Essential for Nr5a1 Expression in the Pituitary Gonadotrope and for Postnatal Development of Male Reproductive Organs in a Mouse Model. Shima Y, et al. Int J Mol Sci, 2022 Dec 22. PMID 36613635, Free PMC Article
  2. The role of steroidogenic factor 1 (SF-1) in steroidogenic cell function of the testes and ovaries of mature mice. Smith OE, et al. Reproduction, 2023 Jan 1. PMID 36194434
  3. SF-1 expression in the hypothalamus is required for beneficial metabolic effects of exercise. Fujikawa T, et al. Elife, 2016 Nov 22. PMID 27874828, Free PMC Article
  4. The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice. Miyado M, et al. Biol Sex Differ, 2016. PMID 27833742, Free PMC Article
  5. Steroidogenic Factor 1 in the Ventromedial Nucleus of the Hypothalamus Regulates Age-Dependent Obesity. Kinyua AW, et al. PLoS One, 2016. PMID 27598259, Free PMC Article

See all (451) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Loss of NR5A1 in mouse Sertoli cells after sex determination changes cellular identity and induces cell death by anoikis.
    Title: Loss of NR5A1 in mouse Sertoli cells after sex determination changes cellular identity and induces cell death by anoikis.
  2. Trps1 acts as a regulator of Sf-1 transcription and testosterone synthesis in mouse Leydig cells.
    Title: Trps1 acts as a regulator of Sf-1 transcription and testosterone synthesis in mouse Leydig cells.
  3. Inhibition of high-fat diet-induced inflammatory responses in adipose tissue by SF1-expressing neurons of the ventromedial hypothalamus.
    Title: Inhibition of high-fat diet-induced inflammatory responses in adipose tissue by SF1-expressing neurons of the ventromedial hypothalamus.
  4. Intronic Enhancer Is Essential for Nr5a1 Expression in the Pituitary Gonadotrope and for Postnatal Development of Male Reproductive Organs in a Mouse Model.
    Title: Intronic Enhancer Is Essential for Nr5a1 Expression in the Pituitary Gonadotrope and for Postnatal Development of Male Reproductive Organs in a Mouse Model.
  5. The role of steroidogenic factor 1 (SF-1) in steroidogenic cell function of the testes and ovaries of mature mice.
    Title: The role of steroidogenic factor 1 (SF-1) in steroidogenic cell function of the testes and ovaries of mature mice.
  6. Steroidogenic Factor 1 Regulates Transcription of the Inhibin B Coreceptor in Pituitary Gonadotrope Cells.
    Title: Steroidogenic Factor 1 Regulates Transcription of the Inhibin B Coreceptor in Pituitary Gonadotrope Cells.
  7. Steroidogenic Factor 1 Regulation of the Hypothalamic-Pituitary-Ovarian Axis of Adult Female Mice.
    Title: Steroidogenic Factor 1 Regulation of the Hypothalamic-Pituitary-Ovarian Axis of Adult Female Mice.
  8. Crucial role of SF1 in steroid-producing cells of the testis, ovary and adrenal gland.
    Title: In vivo evidence for the crucial role of SF1 in steroid-producing cells of the testis, ovary and adrenal gland.
  9. Data suggest that Sf1 and c-jun interact and cooperate to activate the Fdx1 promoter in MA-10 (tumorigenic cell line) and TM3 (non-tumorigenic cell line) Leydig cells; such activation requires different regulatory elements located between -124 and -306 bp of Fdx1 promoter and involves recruitment of Sf1 to this region.
    Title: Transcription factors SF1 and cJUN cooperate to activate the Fdx1 promoter in MA-10 Leydig cells.
  10. Data indicate that the inhibin-alpha promoter is activated synergistically by Wt1 and Sf1.
    Title: Expression of inhibin-alpha is regulated synergistically by Wilms' tumor gene 1 (Wt1) and steroidogenic factor-1 (Sf1) in sertoli cells.
Submit: New GeneRIF Correction See all GeneRIFs (132)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 ISO
Inferred from Sequence Orthology
more info
  
enables lipid binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables nuclear receptor activity ISO
Inferred from Sequence Orthology
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 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 ISO
Inferred from Sequence Orthology
more info
  
involved_in female gonad development ISO
Inferred from Sequence Orthology
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 ISO
Inferred from Sequence Orthology
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 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 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 sex determination ISO
Inferred from Sequence Orthology
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 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 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

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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)

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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_001316687.1 → NP_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:237 → 460
    NR_LBD_SF-1; The ligand binding domain of nuclear receptor steroidogenic factor 1, a member of nuclear receptor superfamily
    cd07167
    Location:13 → 105
    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:147 → 217
    MISS; MAPK-interacting and spindle-stabilizing protein-like

  2. NM_139051.3 → NP_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:237 → 460
    NR_LBD_SF-1; The ligand binding domain of nuclear receptor steroidogenic factor 1, a member of nuclear receptor superfamily
    cd07167
    Location:13 → 105
    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:147 → 217
    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)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P33242.3 GenPept UniProtKB/Swiss-Prot:P33242

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
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