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

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

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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Targeted (11) 1 citation
Endonuclease-mediated (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Nr5a1 (e-PCR), detects polymorphism
- UniSTS:516625

UniSTS:464684 (e-PCR)
- UniSTS:464684

Nr5a1 (e-PCR), detects polymorphism
- UniSTS:464684

Nr5a1 (e-PCR), detects polymorphism
- UniSTS:498749

Sf1 (e-PCR), detects polymorphism
- UniSTS:532307

PMC140651P1 (e-PCR)
- UniSTS:270946

Nr5a1 (e-PCR), detects polymorphism
- UniSTS:525945

FTZF1-2 (e-PCR)
- UniSTS:254074

NoName (e-PCR)
- UniSTS:548220

D10584 (e-PCR)
- UniSTS:178611

Nr5a1 (e-PCR), detects polymorphism
- UniSTS:144067

Nr5a1 (e-PCR), detects polymorphism
- UniSTS:547279

D10584 (e-PCR)
- UniSTS:158955

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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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)

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
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