Tchem NR5A1 Steroidogenic factor 1

Protein Summary

Description

Transcriptional activator. Essential for sexual differentiation and formation of the primary steroidogenic tissues (PubMed:27378692). 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 (PubMed:27378692). The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional activity. 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. 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]

Uniprot Accession IDs

• Q13285
• O15196
• Q5T6F5
• SF-1

Gene Name

• NR5A1

Ensembl ID

• ENST00000373588
• ENSP00000362690
• ENSG00000136931

Symbol

• AD4BP
• FTZF1
• SF1
• ELP
• SF1
• FTZ1
• POF7
• SF-1
• AD4BP
• FTZF1
• SPGF8
• SRXX4
• SRXY3
• hSF-1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	0.98
hub protein	0.9
protein domain	0.85
biological process	0.84
biological term	0.8

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 908.16   (req: < 5)

Gene RIFs: 175   (req: <= 3)

Antibodies: 377   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 908.16   (req: >= 5)

Gene RIFs: 175   (req: > 3)

Antibodies: 377   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 35

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 16

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

Show Full Sequence

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Related Tools

Target Illumination GWAS Analytics (TIGA)

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GENEVA

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GlyGen

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Active Ligands (16)

Explore Active Ligands

1 – 10 of 16

CHEMBL4515639

NR5A1Tchem NR

pKd : 7.91

CHEMBL384424,CHEMBL385911

NR5A1Tchem NR

pEC50 : 8

CHEMBL425623

NR5A1Tchem NR

pEC50 : 7.52

CHEMBL216179

NR5A1Tchem NR

pEC50 : 7.96

CHEMBL384153

NR5A1Tchem NR

pEC50 : 7.4

CHEMBL214414

NR5A1Tchem NR

pEC50 : 7.85

CHEMBL259067

NR5A1Tchem NR

pIC50 : 7.52

CHEMBL1765959

NR5A1Tchem NR

pEC50 : 7.5

CHEMBL1765953

NR5A1Tchem NR

pEC50 : 7.4

CHEMBL1765960

NR5A1Tchem NR

pEC50 : 7.2

Protein-Protein Interactions (150)

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• See Interactions on String-DB

NR0B1

Tbio

Family:  NR

Novelty:  0.00166563

Score:  0.983

Data Source:  STRINGDB

UBE2I

Tbio

Novelty:  0.00267883

Score:  0.967

Data Source:  Reactome,STRINGDB

PIAS1

Tbio

Family:  TF

Novelty:  0.00987743

Score:  0.942

Data Source:  STRINGDB

SUMO1

Tbio

Novelty:  0.00137629

Score:  0.937

Data Source:  Reactome,STRINGDB

FOXL2

Tbio

Family:  TF

Novelty:  0.00224046

Score:  0.936

Data Source:  STRINGDB

SUMO2

Tbio

Novelty:  0.00366833

Score:  0.932

Data Source:  Reactome,STRINGDB

NRIP1

Tbio

Novelty:  0.00551568

Score:  0.912

Data Source:  STRINGDB

PIAS3

Tbio

Family:  TF

Novelty:  0.01380668

Score:  0.902

Data Source:  STRINGDB

MED1

Tbio

Family:  Enzyme

Novelty:  0.00852082

Score:  0.9

Data Source:  STRINGDB

SOX9

Tbio

Family:  TF

Novelty:  0.00047439

Score:  0.891

Data Source:  STRINGDB

Pathways (15)

Reactome (11)

KEGG (2)

WikiPathways (2)

Developmental Biology (R-HSA-1266738)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Developmental Biology	1055 targets	R-HSA-1266738
Reactome	Gene expression (Transcription)	1452 targets	R-HSA-74160
Reactome	Generic Transcription Pathway	1195 targets	R-HSA-212436
Reactome	Metabolism of proteins	2050 targets	R-HSA-392499
Reactome	Nuclear Receptor transcription pathway	53 targets	R-HSA-383280

Name	Explore in Pharos	Explore in Source
Developmental Biology	1055 targets	R-HSA-1266738
Gene expression (Transcription)	1452 targets	R-HSA-74160
Generic Transcription Pathway	1195 targets	R-HSA-212436
Metabolism of proteins	2050 targets	R-HSA-392499
Nuclear Receptor transcription pathway	53 targets	R-HSA-383280

Gene Ontology Terms (38)

Functions (14)

Components (3)

Processes (21)

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1 – 10 of 14

GO Term	Evidence	Assigned by
DNA binding	Inferred from Direct Assay (IDA)	UniProtKB
nuclear receptor activity	Inferred from Direct Assay (IDA)	ParkinsonsUK-UCL
phospholipid binding	Inferred from Direct Assay (IDA)	UniProtKB
RNA polymerase II regulatory region sequence-specific DNA binding	Inferred from Direct Assay (IDA)	ParkinsonsUK-UCL
sequence-specific DNA binding	Inferred from Direct Assay (IDA)	UniProtKB
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	Inferred from Direct Assay (IDA)	UniProtKB
enzyme binding	Inferred from Physical Interaction (IPI)	UniProtKB
transcription regulatory region sequence-specific DNA binding	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
chromatin binding	Inferred from Sequence or structural Similarity (ISS)	BHF-UCL
RNA polymerase II distal enhancer sequence-specific DNA binding	Inferred from Sequence or structural Similarity (ISS)	BHF-UCL

GWAS Traits (9)

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
platelet count	EFO_0004309	2	2	2		76
platelet crit	EFO_0007985	2	2	2		74.5
alcohol consumption measurement	EFO_0007878	1	1	1		21.5
myeloid white cell count	EFO_0007988	1	1	1		17.6
leukocyte count	EFO_0004308	1	1	1		17

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
platelet count	EFO_0004309	2		76
platelet crit	EFO_0007985	2		74.5
alcohol consumption measurement	EFO_0007878	1		21.5
myeloid white cell count	EFO_0007988	1		17.6
leukocyte count	EFO_0004308	1		17

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UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Acetylation
Activator
Complete proteome
Disease mutation
DNA-binding
Isopeptide bond
Lipid-binding
Metal-binding
Nucleus

GWAS Trait Find Similar Targets

No Header	No Header
alcohol consumption measurement
atrial fibrillation
leukocyte count
mean corpuscular volume
myeloid white cell count
platelet count
platelet crit
reticulocyte count
reticulocyte measurement

MGI Phenotype Find Similar Targets

No Header	No Header
behavior/neurological phenotype
cardiovascular system phenotype
cellular phenotype
embryo phenotype
endocrine/exocrine gland phenotype
growth/size/body region phenotype
homeostasis/metabolism phenotype
immune system phenotype
mortality/aging
nervous system phenotype

Orthologs (9)

1 – 5 of 9

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Macaque	nuclear receptor subfamily 5 group A member 1		694183
Mouse	nuclear receptor subfamily 5, group A, member 1	MGI:1346833	26423
Rat	nuclear receptor subfamily 5, group A, member 1	RGD:68350	83826
Dog	nuclear receptor subfamily 6 group A member 1	VGNC:49931	609642
Horse	nuclear receptor subfamily 5 group A member 1	VGNC:49505	100033902

Species	Name	OMA	EggNOG	Inparanoid
Macaque	nuclear receptor subfamily 5 group A member 1
Mouse	nuclear receptor subfamily 5, group A, member 1
Rat	nuclear receptor subfamily 5, group A, member 1
Dog	nuclear receptor subfamily 6 group A member 1
Horse	nuclear receptor subfamily 5 group A member 1

Publication Statistics

PubMed Score 908.16

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PubTator Score 607.72

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