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

Summary

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Official Symbol: NR5A1provided by HGNC
Official Full Name: nuclear receptor subfamily 5, group A, member 1provided by HGNC
Primary source: HGNC:7983
Locus tag: RP11-101K10.1
See related: Ensembl:ENSG00000136931; HPRD:01702; MIM:184757; Vega:OTTHUMG00000020655
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; SRXY3
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]

Genomic context

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Location :: 9q33

Sequence :: Chromosome: 9; NC_000009.11 (127243515..127269699, complement)

See NR5A1 in Epigenomics, MapViewer

Chromosome 9 - NC_000009.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

SF-1 regulates LRH-1 expression in ovarian granulosa cells.
Title: A novel isoform of liver receptor homolog-1 is regulated by steroidogenic factor-1 and the specificity protein family in ovarian granulosa cells.
findings show that the p.G146A and p.P125P polymorphisms of the SF-1 gene do not play an important role in the development of hypospadias with varying degrees in the investigated Caucasian population
Title: The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in Caucasians.
We identified one new NR5A1 mutation in a patient of our POI cohort (prevalence 3.8%).
Title: NR5A1 (SF-1) gene variants in a group of 26 young women with XX primary ovarian insufficiency.
SF-1 is a central regulator of reproductive development and reproductive function; defects/mutations in SF-1 are surprisingly frequent causes of reproductive dysfunction in subjects with disorders of sex development. [REVIEW]
Title: Steroidogenic factor-1 and human disease.
preserved fertility can be observed in patients with a 46,XY disorder of sex development due to heterozygous mutations in the NR5A1 gene.
Title: Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.
results demonstrate that ASAH1 is a novel coregulatory protein that represses SF-1 function by directly binding to the receptor on SF-1 target gene promoters and identify a key role for nuclear lipid metabolism in regulating gene transcription
Title: Acid ceramidase (ASAH1) represses steroidogenic factor 1-dependent gene transcription in H295R human adrenocortical cells by binding to the receptor.
We have identified Ang2 as a potentially important novel target of SF-1 in the adrenal gland, indicating that regulation of angiogenesis might be an important additional mechanism by which SF-1 exerts its actions in the adrenal gland
Title: ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland.
Ubc9 and PIAS1 potentiated SF-1-mediated transactivation of human CYP17, CYP11A1, and CYP11B1 but not CYP11B2 promoters.
Title: Coactivation of SF-1-mediated transcription of steroidogenic enzymes by Ubc9 and PIAS1.
analysis of differentially expressed genes indicates systemic role for SF-1 in adrenal cortex affecting differentiation, proliferation and steroidogenesis and establishes RNF31 as an important regulator of adrenal steroidogenesis
Title: Knockdown of SF-1 and RNF31 affects components of steroidogenesis, TGFβ, and Wnt/β-catenin signaling in adrenocortical carcinoma cells.
Mutations in the SF1 gene is associated with premature ovarian failure.
Title: Mutational screening of SF1 and WNT4 in Tunisian women with premature ovarian failure.

Submit: New GeneRIF Correction See all (112)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
Q13285	P10275	AR	HPRD	PubMed
Q13285	P35222	CTNNB1	HPRD	PubMed
Q13285	O60869	EDF1	HPRD	PubMed
Q13285	P43694	GATA4	HPRD	PubMed
Q13285	Q00403	GTF2B	HPRD	PubMed
Q13285	P05412	JUN	HPRD	PubMed
Q13285	P28482	MAPK1	HPRD	PubMed
Q13285	Q15788	NCOA1	HPRD	PubMed
Q13285	Q00653	NFKB2	HPRD	PubMed
Q13285	P23511	NFYA	HPRD	PubMed
Q13285	P51843	NR0B1	HPRD	PubMed
Q13285	P48552	NRIP1	HPRD	PubMed
Q13285	O75925	PIAS1	HPRD	PubMed
Q13285	P78337	PITX1	HPRD	PubMed
Q13285	Q9NPJ4	PNRC2	HPRD	PubMed
Q13285	Q92786	PROX1	HPRD	PubMed
Q13285	Q6STE5	SMARCD3	HPRD	PubMed
Q13285	P48431	SOX2	HPRD	PubMed
Q13285	P57073	SOX8	HPRD	PubMed
Q13285	P48436	SOX9	HPRD	PubMed
Q13285	P08047	SP1	HPRD	PubMed
Q13285	O60806	TBX19	HPRD	PubMed
Q13285	Q96PN7	TRERF1	HPRD	PubMed
Q13285	Q96CK0	ZNF653	HPRD	PubMed
BioGRID:108792	BioGRID:115486	ALYREF	BioGRID	PubMed	Affinity Capture-RNA
BioGRID:108792	BioGRID:107056	BARD1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108792	BioGRID:107777	CREBBP	BioGRID	PubMed	Reconstituted Complex
BioGRID:108792	BioGRID:107880	CTNNB1	BioGRID	PubMed	Affinity Capture-Western; Phenotypic Enhancement; Reconstituted Complex; Two-hybrid
BioGRID:108792	BioGRID:119045	CXXC1	BioGRID	PubMed	Two-hybrid
BioGRID:108792	BioGRID:113649	DDX39B	BioGRID	PubMed	Affinity Capture-RNA
BioGRID:108792	BioGRID:114260	EDF1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108792	BioGRID:115119	EIF4A3	BioGRID	PubMed	Affinity Capture-RNA
BioGRID:108792	BioGRID:108309	ELAVL1	BioGRID	PubMed	Affinity Capture-RNA
BioGRID:108792	BioGRID:108896	GATA4	BioGRID	PubMed	Reconstituted Complex
BioGRID:108792	BioGRID:109214	GTF2B	BioGRID	PubMed	Reconstituted Complex
BioGRID:108792	BioGRID:109928	JUN	BioGRID	PubMed	Reconstituted Complex
BioGRID:108792	BioGRID:114200	NCOA1	BioGRID	PubMed	Two-hybrid
BioGRID:108792	BioGRID:106695	NR0B1	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:108792	BioGRID:113843	NRIP1	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:108792	BioGRID:111324	PITX1	BioGRID	PubMed	Reconstituted Complex
BioGRID:108792	BioGRID:116750	RAD54L2	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
BioGRID:108792	BioGRID:112545	SOX9	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:108792	BioGRID:112550	SP1	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:108792	BioGRID:112795	TCF7L2	BioGRID	PubMed	Phenotypic Enhancement
BioGRID:108792	BioGRID:121436	THOC2	BioGRID	PubMed	Affinity Capture-RNA
BioGRID:108792	BioGRID:120919	TRERF1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:108792	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108792	BioGRID:125464	ZNF653	BioGRID	PubMed	Reconstituted Complex; Two-hybrid

Pathways from BioSystems

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Gene Expression, organism-specific biosystem (from REACTOME)
Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
Nuclear Receptor transcription pathway, organism-specific biosystem (from REACTOME)
Nuclear Receptor transcription pathway, organism-specific biosystemA classic example of bifunctional transcription factors is the family of Nuclear Receptor (NR) proteins. These are DNA-binding transcription factors that bind certain hormones, vitamins, and other s...
Nuclear Receptors, organism-specific biosystem (from WikiPathways)
Nuclear Receptors, organism-specific biosystemNuclear receptors are a class of proteins found within the interior of cells that are responsible for sensing the presence of steroid and thyroid hormones and certain other molecules. In response, th...
Ovarian Infertility Genes, organism-specific biosystem (from WikiPathways)
Ovarian Infertility Genes, organism-specific biosystemOvarian bottleneck genes associated with infertility. A valuable approach to the study of infertility is the comparison of mutations of individual human and mouse genes associated with infertility ph...
Wnt Signaling Pathway NetPath, organism-specific biosystem (from WikiPathways)
Wnt Signaling Pathway NetPath, organism-specific biosystemWnt family of proteins are a large family of cysteine-rich secreted glycoproteins that regulate cell-cell interactions. They bind to members of the Frizzled family of 7 transmembrane receptors. Bindi...

General gene information

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Genotypes

See NR5A1 SNP Geneview Report
See NR5A1 SNP Genotype Report
See NR5A1 SNP Variation Viewer Report

Homology

Homologs of the NR5A1 gene: The NR5A1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and chicken.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA binding	IDA Inferred from Direct Assay more info	PubMed
RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	IDA Inferred from Direct Assay more info
chromatin binding	IEA Inferred from Electronic Annotation more info
double-stranded DNA binding	IEA Inferred from Electronic Annotation more info
enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity	TAS Traceable Author Statement more info	PubMed
phospholipid binding	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
steroid hormone receptor activity	IEA Inferred from Electronic Annotation more info
transcription coactivator activity	TAS Traceable Author Statement more info	PubMed
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
adrenal gland development	IEA Inferred from Electronic Annotation more info
cell differentiation	IEA Inferred from Electronic Annotation more info
cell-cell signaling	TAS Traceable Author Statement more info	PubMed
gene expression	TAS Traceable Author Statement more info
hormone metabolic process	IEA Inferred from Electronic Annotation more info
intracellular receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
luteinization	IEA Inferred from Electronic Annotation more info
maintenance of protein location in nucleus	IEA Inferred from Electronic Annotation more info
male gonad development	IEA Inferred from Electronic Annotation more info
multicellular organismal aging	IEA Inferred from Electronic Annotation more info
negative regulation of female gonad development	IEA Inferred from Electronic Annotation more info
positive regulation of male gonad development	IDA Inferred from Direct Assay more info
positive regulation of transcription from RNA polymerase II promoter	IMP Inferred from Mutant Phenotype more info	PubMed
primary sex determination	TAS Traceable Author Statement more info	PubMed
regulation of steroid biosynthetic process	TAS Traceable Author Statement more info	PubMed
tissue development	IEA Inferred from Electronic Annotation more info
transcription initiation from RNA polymerase II promoter	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
nucleoplasm	TAS Traceable Author Statement more info
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: steroidogenic factor 1

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

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.

Genomic

NG_008176.1 RefSeqGene

Range

5001..31185

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004959.4 → NP_004950.2 steroidogenic factor 1

Status: REVIEWED

Source sequence(s)

AK090858, BC032501, U76388

Consensus CDS

CCDS6856.1

UniProtKB/TrEMBL

F1D8R8

UniProtKB/Swiss-Prot

Q13285

Related

ENSP00000362690, OTTHUMP00000022104, ENST00000373588, OTTHUMT00000054029

Conserved Domains (2) summary

cd07070
Location:240 – 459
Blast Score: 1034

NR_LBD_SF-1; The ligand binding domain of nuclear receptor steroidogenic factor 1, a member of nuclear receptor superfamily

cd07167
Location:13 – 105
Blast Score: 532

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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000009.11 Reference GRCh37.p10 Primary Assembly

Range

127243515..127269699, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000141.1 Alternate HuRef

Range

96856059..96882213, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018920.1 Alternate CHM1_1.0

Range

127256057..127282237, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AB009577.1	BAB18655.1
genomic	ABBA01043749.1 (16705..40313)	None
genomic	ABBA01043750.1	None
genomic	AL137846.24 (155415..162838)	None
genomic	AL354979.17 (2000..20760)	None
genomic	AMYH01021707.1 (36322..59836)	None
genomic	AMYH01021708.1	None
genomic	AY542548.1	AAS48621.1
genomic	CH471090.1	EAW87591.1
genomic	D88155.2	BAA13546.1
genomic	U32592.1	AAA75332.1
mRNA	AB307718.1	BAH02309.1
mRNA	AK090858.1	None
mRNA	BC032501.1	AAH32501.1
mRNA	HQ692856.1	ADZ17367.1
mRNA	HQ709184.1	ADZ17391.1
mRNA	U76388.1	AAB53105.1
other-genetic	EU446475.1	ABZ92004.1
other-genetic	JF432187.1	ADZ15404.1