Nr5a1 nuclear receptor subfamily 5, group A, member 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Nr5a1provided by RGD
Official Full Name: nuclear receptor subfamily 5, group A, member 1provided by RGD
Primary source: RGD:68350
See related: Ensembl:ENSRNOG00000012682 AllianceGenome:RGD:68350
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Sf-1; Ad4bp; Ftzf1; Ad4BP/SF-1
Summary: Enables DNA-binding transcription factor activity; double-stranded DNA binding activity; and sequence-specific DNA binding activity. Involved in several processes, including calcineurin-mediated signaling; positive regulation of male gonad development; and response to gonadotropin-releasing hormone. Located in nucleus. Used to study gonadal dysgenesis. 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: Biased expression in Adrenal (RPKM 402.1), Testes (RPKM 75.0) and 1 other tissue See more
Orthologs: human mouse all
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Genomic context

Location:: 3q12

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	3	NC_086021.1 (42874505..42896109, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	3	NC_051338.1 (22464786..22486328, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	3	NC_005102.4 (22998900..23020441, complement)

Chromosome 3 - NC_086021.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TGF-beta1 induced activations of Smad2 and miRNAs inhibit SF-1- and LRH-1-dependent CYP19 expression in rat Leydig cellsdagger.
Title: TGF-β1 induced activations of Smad2 and miRNAs inhibit SF-1- and LRH-1-dependent CYP19 expression in rat Leydig cells†.
The effect of clomiphene citrate and human chorionic gonadotropin on the expression of CatSper1, CatSper2, LHCGR, and SF1 genes, as well as the structural changes in testicular tissue of adult rats.
Title: The effect of clomiphene citrate and human chorionic gonadotropin on the expression of CatSper1, CatSper2, LHCGR, and SF1 genes, as well as the structural changes in testicular tissue of adult rats.
In conclusion, the presented data revealed that the pituitary Nr5a1/Ctnnb1/Nr0b1 system is controlled by endogenous Gnrh network activity, and hypothalamic-derived regulatory inputs can affect the processes responsible for gene transcription, translation, and protein intracellular translocation.
Title: Gonadotropin-releasing hormone and kisseptin-10 regulate nuclear receptor subfamily 5 group a member 1/catenin beta 1/ nuclear receptor subfamily 0 group B member 1 activity in female rat anterior pituitary gland.
DNA methylation might play a role in the downregulation of SF-1 gene expression induced by soy isoflavones.
Title: Continuous soy isoflavones exposure from weaning to maturity induces downregulation of ovarian steroidogenic factor 1 gene expression and corresponding changes in DNA methylation pattern.
These results suggest that the low level of DAX-1 may enhance the transcriptional activity of SF-1 and expression of genes related to glucocorticoid synthesis, which are targeted by SF-1, in adrenals from SHR.
Title: Characteristic induction of steroidogenic factor 1 (SF-1) and DAX-1 and enhanced expression of glucocorticoid synthesis-related genes in adrenals from spontaneously hypertensive rats.
Upstream stimulatory factors (USF1 and USF2) induce Nr5a1 and Shbg gene expression during the onset of rat Sertoli cell differentiation.
Title: Upstream stimulatory factor induces Nr5a1 and Shbg gene expression during the onset of rat Sertoli cell differentiation.
Binding of steroidogenic factor-1 (SF-1) to the StAR promoter region was also enhanced by PTU treatment, which suggests that propylthiouracil could upregulate StAR gene expression.
Title: Stimulatory effects of propylthiouracil on pregnenolone production through upregulation of steroidogenic acute regulatory protein expression in rat granulosa cells.
FGF2 inhibited the expressions of steroidogenic acute regulatory (StAR) protein and steroidogenic factor 1 (Nr5a1) in LH-stimulated immature Leydig cells.
Title: Inhibition of LH-stimulated androgen production in rat immature Leydig cells: Effects on nuclear receptor steroidogenic factor 1 by FGF2.
FXR is able to compete with steroidogenic factor 1 in binding to a common sequence present in the aromatase promoter region interfering negatively with its activity.
Title: Farnesoid X receptor, through the binding with steroidogenic factor 1-responsive element, inhibits aromatase expression in tumor Leydig cells.
Inhibin A is capable of feedback antagonizing FSH action on GCs by reducing FSHR expression at ovarian level via a short feedback loop. Transcriptional factor receptors, such as SF-1, AR and DAX-1 were involved in this regulation.
Title: Inhibin A inhibits follicle-stimulating hormone (FSH) action by suppressing its receptor expression in cultured rat granulosa cells.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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

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

PMC140651P1 (e-PCR)
- UniSTS:270946

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

RH132410 (e-PCR)
- UniSTS:215693

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
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	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables chromatin binding	ISO Inferred from Sequence Orthology more info
enables double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables nuclear receptor activity	ISO Inferred from Sequence Orthology more info
enables nuclear receptor activity	NAS Non-traceable Author Statement more info	PubMed
enables phospholipid binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific DNA binding	IDA Inferred from Direct Assay 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	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within Sertoli cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within adrenal gland development	ISO Inferred from Sequence Orthology more info
involved_in calcineurin-mediated signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in female gonad development	IEP Inferred from Expression Pattern more info	PubMed
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	ISO Inferred from Sequence Orthology more info
involved_in hormone-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in hormone-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular receptor signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within luteinization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within maintenance of protein location in nucleus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within male gonad development	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of female gonad development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity 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	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
involved_in response to gonadotropin-releasing hormone	IEP Inferred from Expression Pattern more info	PubMed
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	ISO Inferred from Sequence Orthology more info
involved_in transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed

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	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: steroidogenic factor 1

Names: STF-1; adrenal 4-binding protein; fushi tarazu factor homolog 1; steroid hormone receptor Ad4BP

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_001191099.4 → NP_001178028.1 steroidogenic factor 1 isoform 1

See identical proteins and their annotated locations for NP_001178028.1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000003

UniProtKB/Swiss-Prot

P50569

UniProtKB/TrEMBL

A6JEU8, A6JEU9

Related

ENSRNOP00000017651.1, ENSRNOT00000017651.4

Conserved Domains (2) summary

cd07070
Location:224 → 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
NM_001429501.1 → NP_001416430.1 steroidogenic factor 1 isoform 2

Status: VALIDATED

Source sequence(s)

JAXUCZ010000003
NM_001429502.1 → NP_001416431.1 steroidogenic factor 1 isoform 1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000003

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086021.1 Reference GRCr8

Range

42874505..42896109 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_063284685.1 → XP_063140755.1 steroidogenic factor 1 isoform X1
XM_063284686.1 → XP_063140756.1 steroidogenic factor 1 isoform X1
XM_063284687.1 → XP_063140757.1 steroidogenic factor 1 isoform X2

UniProtKB/Swiss-Prot

P50569

UniProtKB/TrEMBL

A6JEU9

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_053344.1: Suppressed sequence

Description

NM_053344.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.