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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NR5A1 Gene

protein-coding GIFtS: 69
GCID: GC09M127243

nuclear receptor subfamily 5, group A, member 1

(Previous symbol: FTZF1)

Explore 77 diseases affiliated with
NR5A1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Nuclear Receptor Subfamily 5, Group A, Member 1¹ ²		STF-1² ³
AD4BP¹ ² ³ ⁵		POF7² ⁵
FTZF1¹ ² ³ ⁵		SPGF8²
SF-1¹ ² ³		SRXY3²
FTZ1¹ ² ⁵		Adrenal 4 Binding Protein²
SF1² ³ ⁵		Nuclear Receptor AdBP4²
ELP¹ ²		Steroidogenic Factor 1²
Adrenal 4-Binding Protein² ³		Steroidogenic Factor 1 Nuclear Receptor²
Fushi Tarazu Factor Homolog 1² ³		Steroidogenic Factor-1²
Steroid Hormone Receptor Ad4BP² ³		Nuclear Receptor Subfamily 5 Group A Member 1³

External Ids:	HGNC: 7983¹	Entrez Gene: 2516²	Ensembl: ENSG00000136931⁷	OMIM: 184757⁵	UniProtKB: Q13285³

Export aliases for NR5A1 gene to outside databases

Previous GC identifers: GC09M118359 GC09M118890 GC09M120697 GC09M122619 GC09M124323 GC09M126283 GC09M096856

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NR5A1:

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)

UniProtKB/Swiss-Prot: STF1_HUMAN, Q13285

Function: Transcriptional activator. Seems to be essential for sexual differentiation and formation of the primary

steroidogenic tissues. Binds to the Ad4 site found in the promoter region of steroidogenic P450 genes such as CYP11A,

CYP11B and CYP21B. Also regulates the AMH/Muellerian inhibiting substance gene as well as the AHCH and STAR genes.

5'-YCAAGGYC-3' and 5'-RRAGGTCA-3' are the consensus sequences for the recognition by NR5A1. The SFPQ-NONO-NR5A1

complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional avtivity. Binds

phosphatidylcholine (By similarity). Binds phospholipids with a phosphatidylinositol (PI) headgroup, in particular

PI(3,4)P2 and PI(3,4,5)P3. Activated by the phosphorylation of NR5A1 by HIPK3 leading to increased steroidogenic gene

expression upon cAMP signaling pathway stimulation

Gene Wiki entry for NR5A1 (Steroidogenic factor 1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000009.11 NC_018920.1 NT_008470.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NR5A1 gene promoter:
GR CREB GATA-3 deltaCREB GR-alpha AP-2alpha GATA-1 GATA-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NR5A1 promoter sequence

Search SABiosciences Chromatin IP Primers for NR5A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NR5A1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q33 Ensembl cytogenetic band: 9q33.3 HGNC cytogenetic band: 9q33

NR5A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NR5A1 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M127243: view genomic region (about GC identifiers)

Start:	127,243,515 bp from pter	End:	127,269,709 bp from pter
Size:	26,195 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: STF1_HUMAN, Q13285 (See protein sequence)

Recommended Name: Steroidogenic factor 1

Size: 461 amino acids; 51636 Da

Subunit: Binds DNA as a monomer. Interacts with NR0B2 and PPARGC1A (By similarity). Part of a complex consisting of

SFPQ, NONO and NR5A1. Interacts with NCOA2. Interacts with DGKQ and CDK7. Binds to and activated by HIPK3

Subcellular location: Nucleus

2 PDB 3D structures from and Proteopedia for NR5A1:

1YOW (3D)

1ZDT (3D)

Secondary accessions: O15196 Q5T6F5

Explore the universe of human proteins at neXtProt for NR5A1: NX_Q13285

Post-translational modifications:

Acetylation stimulates the transcriptional activity¹

Sumoylation reduces CDK7-mediated phosophorylation on Ser-203¹

Phosphorylated on Ser-203 by CDK7. This phosphorylation promotes transcriptional activity¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q13285

NR5A1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_004950.2

ENSEMBL proteins:

ENSP00000362690 ENSP00000362689 ENSP00000393245

Reactome Protein details: Q13285
Human Recombinant Protein Products:

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	Browse Sino Biological Recombinant Proteins
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	Uscn Proteins for NR5A1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	10848616
GO:0005654	nucleoplasm	TAS	--

NR5A1 for ontologies About GeneDecksing

NR5A1 Antibody Products:

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	ThermoFisher Antibody for NR5A1

Assay Products for NR5A1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for NR5A1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for NR5A1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NR5A1 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR013088 Znf_NHR/GATA

IPR008946 Nucl_hormone_rcpt_ligand-bd

IPR000536 Nucl_hrmn_rcpt_lig-bd_core

IPR001628 Znf_hrmn_rcpt

IPR001723 Str_hrmn_rcpt

Graphical View of Domain Structure for InterPro Entry Q13285

ProtoNet protein and cluster: Q13285

1 Blocks protein family: IPB001723 Steroid hormone receptor signature

UniProtKB/Swiss-Prot: STF1_HUMAN, Q13285

Similarity: Belongs to the nuclear hormone receptor family. NR5 subfamily

Similarity: Contains 1 nuclear receptor DNA-binding domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: STF1_HUMAN, Q13285

Function: Transcriptional activator. Seems to be essential for sexual differentiation and formation of the primary

steroidogenic tissues. Binds to the Ad4 site found in the promoter region of steroidogenic P450 genes such as CYP11A,

CYP11B and CYP21B. Also regulates the AMH/Muellerian inhibiting substance gene as well as the AHCH and STAR genes.

5'-YCAAGGYC-3' and 5'-RRAGGTCA-3' are the consensus sequences for the recognition by NR5A1. The SFPQ-NONO-NR5A1

complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional avtivity. Binds

phosphatidylcholine (By similarity). Binds phospholipids with a phosphatidylinositol (PI) headgroup, in particular

PI(3,4)P2 and PI(3,4,5)P3. Activated by the phosphorylation of NR5A1 by HIPK3 leading to increased steroidogenic gene

expression upon cAMP signaling pathway stimulation

Genatlas biochemistry entry for NR5A1:

nuclear receptor subfamily 5,group A,member 1,involved in adrenocortical and gonadal development,associating with WT1

for regulating AMH expression,controlling the transcription of NR0B1,steroid/thyroid hormone receptor,superfamily

miRNA Products:		OriGene 3'-UTR Clone: NR5A1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NR5A1
		8/19 QIAGEN miScript miRNA Assays for microRNAs that regulate NR5A1 (see all 19):
		hsa-miR-3678-3p hsa-miR-676 hsa-miR-1285 hsa-miR-486-3p hsa-miR-4260 hsa-miR-193a-5p hsa-miR-24 hsa-miR-3909

		SwitchGear 3'UTR luciferase reporter plasmid: NR5A1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NR5A1 (see all 4) OriGene shRNA RFP: NR5A1 OriGene siRNA: NR5A1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NR5A1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for NR5A1

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR5A1

Gene Ontology (GO): 5/13 molecular function terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IDA	10567391
GO:0003682	chromatin binding	IEA	--
GO:0003690	double-stranded DNA binding	IEA	--
GO:0003700	sequence-specific DNA binding transcription factor activity	--	--
GO:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	IDA	--

NR5A1 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for NR5A1:

Increased cell death HMECs cel

Synthetic lethal with Ras

Animal Models:
Mouse knock-outs for NR5A1: Nr5a1^tm2.1Klp Nr5a1^tm1Enl Nr5a1^tm3Klp Nr5a1^tm1Klp Nr5a1^tm1Jmi
11 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Nr5a1):

behavior/neurological	cardiovascular system	cellular	embryogenesis	endocrine/exocrine gland
growth/size	homeostasis/metabolism	mortality/aging	nervous system	normal
reproductive system

NR5A1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Nuclear Receptor transcription pathway

Nuclear Receptor transcription pathway

1.00

Nuclear Receptors

0.68

Generic Transcription Pathway

Generic Transcription Pathway

1.00

Gene Expression

0.46

PKA activation in glucagon signalling

Development Role of Activin A in cell differentiation and proliferation

0.33

Development_Role of Activin A in cell differentiation and proliferation

0.33

Transcription factors in neurogenesis

Transcription factors in neurogenesis

1.00

Ovarian Infertility Genes

Ovarian Infertility Genes

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for NR5A1

	Development Role of Activin A in cell differentiation and proliferation
	Transcription factors in neurogenesis

1 GeneGo (Thomson Reuters) Pathway for NR5A1

Development Role of Activin A in cell differentiation and proliferation

3 BioSystems Pathways for NR5A1

	Nuclear Receptors
	Ovarian Infertility Genes
	Wnt Signaling Pathway NetPath

3 Reactome Pathways for NR5A1

	Generic Transcription Pathway
	Nuclear Receptor transcription pathway
	Gene Expression

NR5A1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for NR5A1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/70 Interacting proteins for NR5A1 (Q13285^{2, 3} ENSP00000362690⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 70)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PNRC2	Q9NPJ4²^,³, ENSP00000334840⁴	MINT-15668 MINT-15669 I2D: score=2 STRING: ENSP00000334840
LOC100996626	Q9NPJ4²^,³	MINT-15668 MINT-15669 I2D: score=2
FYN	P06241²^,³, ENSP00000357656⁴	MINT-8111571 I2D: score=3 STRING: ENSP00000357656
PIK3R1	P27986²^,³, ENSP00000274335⁴	MINT-8112291 I2D: score=3 STRING: ENSP00000274335
TBX19	O60806³, ENSP00000356795⁴	I2D: score=3 STRING: ENSP00000356795

About this table

Gene Ontology (GO): 5/23 biological process terms (GO ID links to tree view) (see all 23): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001553	luteinization	IEA	--
GO:0006351	transcription, DNA-dependent	--	--
GO:0006355	regulation of transcription, DNA-dependent	--	--
GO:0006357	regulation of transcription from RNA polymerase II promoter	--	--
GO:0006366	transcription from RNA polymerase II promoter	--	--

NR5A1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

NR5A1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for NR5A1 available from Tocris Bioscience About this table

Compound	Action	CAS #
SID 7969543	Selective steroidogenic factor-1 (SF-1, NR5A1) inhibitor	[868224-64-0]

3 HMDB Compounds for NR5A1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Cyclic AMP	Cyclic AMP (see all 19)	60-92-4	--
Potassium	K+ (see all 16)	7440-09-7	--
Sodium	Sodium (see all 2)	7440-23-5	--

2 DrugBank Compounds for NR5A1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
(2R)-3-{[{[(2S)-2,3-DIHYDROXYPROPYL]OXY}(HYDROXY)PHOSPHORYL]OXY}-2-[(9E)-HEXADEC-9-ENOYLOXY]PROPYL (9E)-OCTADEC-9-ENOATE	--	--	target	--	10592235
Phosphatidyl ethanol	(2S)-2-[(9E)-HEXADEC-9-ENOYLOXY]-3-{[HYDROXY(2-HYDROXYETHOXY)PHOSPHORYL]OXY}PROPYL (9E)-OCTADEC-9-ENOATE (see all 2)	--	target	--	--

10/49 Novoseek chemical compound relationships for NR5A1 gene (see all 49) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ptx1	84	31	12915995 (6), 10369682 (4), 10082522 (3), 12700240 (3) (see all 9)
3beta-hydroxysteroid	74.8	15	7639190 (2), 10221587 (1), 9503472 (1), 12658635 (1) (see all 9)
steroid	74.4	99	8395654 (3), 1732738 (2), 17761949 (2), 9580943 (2) (see all 57)
acth	64	42	18228160 (2), 9636648 (2), 11241179 (2), 17664281 (2) (see all 20)
dmrt	61.2	1	16868052 (1)
estrogen	54.1	36	10894149 (2), 9792676 (1), 10593363 (1), 11756570 (1) (see all 23)
estrone	53.2	2	12770728 (1)
testosterone	52.1	32	20302644 (5), 18559914 (2), 16728492 (2), 17975261 (2) (see all 15)
17beta-hydroxysteroid	50	8	18590202 (1), 18957495 (1), 11479137 (1)
progesterone	46.4	16	10098511 (3), 10221587 (2), 20045459 (2), 9503472 (1) (see all 10)

Search CenterWatch for drugs/clinical trials and news about NR5A1 / STF1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NR5A1 gene:

NM_004959.4

Unigene Cluster for NR5A1:

Nuclear receptor subfamily 5, group A, member 1

Hs.495108 [show with all ESTs]

Unigene Representative Sequence: BC032501

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000373588(uc022bnh.1 uc004boo.1) ENST00000373587 ENST00000455734

miRNA Products:		OriGene 3'-UTR Clone: NR5A1 Browse OriGene MicroRNA Expression Plasmids
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		hsa-miR-3678-3p hsa-miR-676 hsa-miR-1285 hsa-miR-486-3p hsa-miR-4260 hsa-miR-193a-5p hsa-miR-24 hsa-miR-3909

		SwitchGear 3'UTR luciferase reporter plasmid: NR5A1 3' UTR sequence

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NR5A1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NR5A1

Additional cDNA sequence:

AB307718.1 BC032501.1 HQ692856.1 HQ709184.1 U76388.1

5 DOTS entries:

DT.100025887 DT.100025888 DT.97790735 DT.121187645 DT.426015

24/35 AceView cDNA sequences (see all 35):

AK090858 AL040513 U76388 AA582053 AX746651 BX089228 BC032501 BQ651118

BF969543 NM_004959 BI833114 BI835112 BQ709205 BQ646426 BM804762 AW183945

AL040512 BF968355 AI239552 AI125719 BQ712393 AW297950 BF792904 BG721096

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for NR5A1 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8a	·	8b	·	8c	·	8d	^	9	^	10	^	11
SP1:							-
SP2:			-		-		-		-
SP3:					-		-		-
SP4:									-
SP5:

ECgene alternative splicing isoforms for NR5A1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NR5A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

NR5A1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary, Testis

Testis

Testis

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See NR5A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NR5A1

SOURCE GeneReport for Unigene cluster: Hs.495108

SABiosciences Expression via Pathway-Focused PCR Array including NR5A1:

Nuclear Receptors & Coregulators in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NR5A1 Browse OriGene validated miRNA SYBR primer pairs
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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR5A1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for NR5A1 gene from 4/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	NR5A1¹	nuclear receptor subfamily 5, group A, member 1	78.58(n) 75(a)		395960 NM_205077.1 NP_990408.1
lizard (Anolis carolinensis)	Reptilia	NR5A1⁶	--	66(a)	1 ↔ 1	GL344272.1(2482-31399)
zebrafish (Danio rerio)	Actinopterygii	nr5a1a⁶ nr5a1b⁶ (see all 3)	nuclear receptor subfamily 5, group A, member 1b (see all 3)	56(a) 55(a) (see all 3)	1 ↔ many 1 ↔ many (see all 3)	8(54820581-54858194) 21(7776899-7817498)
fruit fly (Drosophila melanogaster)	Insecta	ftz-f1³	regulation of transcription, DNA-dependent DNA more	70(a)		--

ENSEMBL Gene Tree for NR5A1 (if available)
TreeFam Gene Tree for NR5A1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for NR5A1 gene

NR5A2² NR6A1²

18/52 SIMAP similar genes for NR5A1 using alignment to 7 protein entries: STF1_HUMAN (see all proteins) (see all similar genes):

HNF4G HNF4alpha NR2C1 NR2C2 NR2F6 RORA

VDR BCOR-RARA NR1B1 NR1B2 NR2A1 NR2A2

NR2A3 RARA RARB NR5A2 NR3C1 NR4A2

NR5A1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894120^1,2	C	pathogenic	96857656(-)	`GTACCA/TGTACC`	2	Q L	mis¹		0	--	--	--	--
rs104894118^1,2	C	pathogenic	96875019(-)	`AAGCCG/TCCCCG`	2	R L	mis¹		0	--	--	--	--
rs200749741^1,2	C,	pathogenic	96875397(+)	`GCGGGA/GGCACC`	2	P L	mis¹		0	--	--	--	--
rs200163795^1,2	C,	pathogenic	96875415(+)	`GGGGCC/GCTGTC`	2	A G	mis¹		0	--	--	--	--
rs104894119^1,2	C	pathogenic	96875508(-)	`TGGCCA/GGAACA`	2	Q R	mis¹		0	--	--	--	--
rs104894126^1,2	C	pathogenic	96875512(-)	`GGGGTA/GGCCGG`	2	S G	mis¹		0	--	--	--	--
rs104894123^1,2	C	pathogenic	96878171(-)	`GTGTGA/CGGGGA`	2	* C	stg¹		0	--	--	--	--
rs104894124^1,2	C	pathogenic	96878176(-)	`GCCCCA/GTGTGC`	2	M V	mis¹		0	--	--	--	--
rs79040822^1,2	F,	--	96855605(+)	`AAGGGC/AAGGGC`	1	--	ds500¹		1		WA	118
rs10986354^1,2	C,F,H,	--	96856039(+)	`CAGAAC/TGTACA`	1	--	ds500¹		8		NS NA WA	1012

HapMap Linkage Disequilibrium report for NR5A1 (127243515 - 127269709 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for NR5A1
1 CNV: 52709
Human Gene Mutation Database (HGMD): NR5A1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NR5A1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

NR5A1 for disorders           About GeneDecksing

OMIM gene information: 184757
OMIM disorders: 612965  612964
UniProtKB/Swiss-Prot: STF1_HUMAN, Q13285

Defects in NR5A1 are a cause of 46,XY sex reversal type 3 (SRXY3) [MIM:612965]. A condition characterized by

male-to-female sex reversal in the presence of a normal 46,XY karyotype

Defects in NR5A1 are a cause of adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:184757].

ACIWOD is characterized by severe 'slackness' muscular hypotonia. There is decreased sodium, increased potassium and

elevated ACTH

Defects in NR5A1 are the cause of premature ovarian failure type 7 (POF7) [MIM:612964]. An ovarian disorder

defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or

amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol

Defects in NR5A1 are the cause of spermatogenic failure type 8 (SPGF8) [MIM:613957]. SPGF8 is an infertility

disorder characterized by spermatogenesis failure and severe oligozoospermia

20/77 diseases for NR5A1 (see all 77): About MalaCards

adrenocortical insufficiency without ovarian defect xy sex reversal sex reversal adrenocortical insufficiency

46, xy disorders of sex development 46 xy gonadal dysgenesis dosage-sensitive sex reversal denys-drash syndrome

gonadal dysgenesis lipoid congenital adrenal hyperplasia acyl-coa dehydrogenase disorders of sex development

sertoli-leydig cell tumor adrenal hyperplasia leydig cell tumor premature ovarian failure 7

androgen insensitivity syndrome premature ovarian failure adrenal hypoplasia adrenal rest tumor

10 diseases from the University of Copenhagen DISEASES database for NR5A1:

Klinefelter's syndrome Adrenal rest tumor Gonadal dysgenesis Hypospadias

Adrenocortical carcinoma Nephroblastoma Adenoma Endometriosis

Cryptorchidism Pseudohermaphroditism

10/42 Novoseek disease relationships for NR5A1 gene (see all 42) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
adrenal hypoplasia, congenital	85.1	10	15379426 (1), 18984668 (1), 12536356 (1), 11738790 (1)
addisons disease	81.8	19	11748841 (1), 14580722 (1), 16684822 (1), 12530669 (1) (see all 12)
lipoid congenital adrenal hyperplasia	73.9	1	11502818 (1)
adenoma adrenocortical	72.8	9	11592817 (1), 7629233 (1), 9851803 (1), 20154585 (1) (see all 6)
gonadal agenesis	71.6	5	15070943 (2), 19878766 (1), 17200175 (1)
carcinoma adrenocortical	66.2	18	7557951 (3), 9232190 (2), 19433645 (1), 17520059 (1) (see all 7)
pseudohermaphroditism male	60.3	4	15379426 (1), 9590178 (1), 11038323 (1)
sex cord-stromal tumor	59.5	13	19033865 (3), 7673429 (2), 18753972 (1)
leydig cell tumor	55.4	3	20026603 (1), 8395654 (1), 19679653 (1)
adrenal tumor	54.2	6	9832418 (1), 10403575 (1), 7608198 (1), 10919277 (1) (see all 5)

GeneTests: NR5A1

46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis

Genetic Association Database (GAD): NR5A1
Human Genome Epidemiology (HuGE) Navigator: NR5A1 (5 documents)

Export disorders for NR5A1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for NR5A1 gene, integrated from 9 sources (see all 525):
(articles sorted by number of sources associating them with NR5A1)

Utopia: connect your pdf to the dynamic
world of online information

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. (PubMed id 17694559)^{1, 2, 9} Koehler B.... Achermann J.C. (2008)
Phosphorylation of steroidogenic factor 1 is mediated by cyclin-dependent kinase 7. (PubMed id 17901130)^{1, 2, 9} Lewis A.E....Bakke M. (2008)
The crystal structures of human steroidogenic factor-1 and liver receptor homologue-1. (PubMed id 15897460)^{1, 2, 9} Wang W.... West B.L. (2005)
Cyclic AMP-stimulated interaction between steroidogenic factor 1 and diacylglycerol kinase theta facilitates induction of CYP17. (PubMed id 17664281)^{1, 2, 9} Li D.... Sewer M.B. (2007)
Acetylation of steroidogenic factor 1 protein regulates its transcriptional activity and recruits the coactivator GCN5. (PubMed id 11479297)^{1, 2, 9} Jacob A.L.... Hedin L. (2001)
Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1. (PubMed id 15707893)^{1, 2, 9} Krylova I.N.... Ingraham H.A. (2005)
Transcriptional activation of human CYP17 in H295R adrenocortical cells depends on complex formation among p54(nrb)/NonO, protein- associated splicing factor, and SF-1, a complex that also participates in repression of transcription. (PubMed id 11897684)^{1, 2, 9} Sewer M.B....Waterman M.R. (2002)
Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. (PubMed id 11932325)^{1, 2, 9} Achermann J.C....Jameson J.L. (2002)
Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency. (PubMed id 11038323)^{1, 2, 9} Biason-Lauber A. and Schoenle E.J. (2000)
Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: integration of hormone signaling in reproduction and stress. (PubMed id 10230405)^{1, 2, 9} Hammer G.D.... Ingraham H.A. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2516	HGNC: 7983	AceView: NR5A1	Ensembl:ENSG00000136931	euGenes: HUgn2516
ECgene: NR5A1	H-InvDB: NR5A1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for NR5A1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for NR5A1 gene
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Patent Information for NR5A1 gene:
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GeneCards and IP:
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NR5A1 Gene

nuclear receptor subfamily 5, group A, member 1

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NR5A1 (Gene Symbol)
Nuclear Receptor Subfamily 5, Group A, Member 1
AD4BP
FTZF1
SF-1
FTZ1
SF1
ELP
Adrenal 4-Binding Protein
Fushi Tarazu Factor Homolog 1
Steroid Hormone Receptor Ad4BP
STF-1
POF7
SPGF8
SRXY3
Adrenal 4 Binding Protein
Nuclear Receptor AdBP4
Steroidogenic Factor 1
Steroidogenic Factor 1 Nuclear Receptor
Steroidogenic Factor-1
Nuclear Receptor Subfamily 5 Group A Member 1

Primary Amenorrhea
Adenoma Adrenocortical
Gonadal Agenesis
Infertility
ADRENAL DISEASE
PSEUDOHERMAPHRODITISM MALE
Hyperplasia
Endometriosis
PITUITARY ADENOMA
Prolactinoma
Carcinoma
Addisons Disease
Breast Cancer
congenital malformation
Adenocarcinoma
Leydig Cell Tumor
Cancer
Wilms tumor
GONADAL DYSFUNCTION
Carcinoma Adrenocortical
Granulosa Cell Tumor
Hypoplasia
Adenoma
OBESITY
46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis
Hypospadias
Polycystic Ovary Syndrome
Kallmann Syndrome
Adrenal Hyperplasia Congenital
BLADDER CARCINOMA
ADRENAL TUMOR
Sex Cord-Stromal Tumor
Tumors
Cryptorchidism
Cardiovascular Diseases
Carcinoma Embryonal
Pheochromocytoma
LIPOID CONGENITAL ADRENAL HYPERPLASIA
Denys-Drash Syndrome
Adrenoleukodystrophy
Choriocarcinoma
ADRENAL HYPOPLASIA, CONGENITAL
Hypogonadism

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NR5A1 Gene

nuclear receptor subfamily 5, group A, member 1

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