Endometriosis Knowledgebase

Search Result

Gene id

2516

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

NR5A1 Gene UCSC Ensembl

Aliases

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

Gene name

nuclear receptor subfamily 5 group A member 1

Alternate names

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

Gene location

9q33.3 (124507419: 124481233) Exons: 9 NC_000009.12

Gene summary(Entrez)

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]

OMIM

184757

Protein Summary

Protein general information

Q13285

Name: Steroidogenic factor 1 (SF 1) (STF 1) (hSF 1) (Adrenal 4 binding protein) (Fushi tarazu factor homolog 1) (Nuclear receptor subfamily 5 group A member 1) (Steroid hormone receptor Ad4BP)

Length: 461 Mass: 51,636

Tissue specificity: High expressed in the adrenal cortex, the ovary, the testis, and the spleen (PubMed

Sequence

MDYSYDEDLDELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKHYTCTESQSCKIDKTQRKRCPFCRFQKCLT
VGMRLEAVRADRMRGGRNKFGPMYKRDRALKQQKKAQIRANGFKLETGPPMGVPPPPPPAPDYVLPPSLHGPEPK
GLAAGPPAGPLGDFGAPALPMAVPGAHGPLAGYLYPAFPGRAIKSEYPEPYASPPQPGLPYGYPEPFSGGPNVPE
LILQLLQLEPDEDQVRARILGCLQEPTKSRPDQPAAFGLLCRMADQTFISIVDWARRCMVFKELEVADQMTLLQN
CWSELLVFDHIYRQVQHGKEGSILLVTGQEVELTTVATQAGSLLHSLVLRAQELVLQLLALQLDRQEFVCLKFII
LFSLDLKFLNNHILVKDAQEKANAALLDYTLCHYPHCGDKFQQLLLCLVEVRALSMQAKEYLYHKHLGNEMPRNN
LLIEMLQAKQT

Structural information

Interpro:	IPR016355 IPR000536 IPR001723 IPR001628 IPR013088
Prosite:	PS00031 PS51030
Pfam:	PF00104 PF00105
PDB:	1YOW 1ZDT 4QJR 4QK4
PDBsum:	1YOW 1ZDT 4QJR 4QK4
MINT:	215481
STRING:	ENSP00000362690;

Other Databases

GeneCards: NR5A1; Malacards: NR5A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular_function
GO:0000980	RNA polymerase II distal enhancer sequence-specifi c DNA binding	ISS	molecular_function
GO:0001553	luteinization	IEA	biological_process
GO:0003677	DNA binding	IDA	molecular_function
GO:0003682	chromatin binding	ISS	molecular_function
GO:0003682	chromatin binding	IBA	molecular_function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific binding	IDA	molecular_function
GO:0003707	steroid hormone receptor activity	IEA	molecular_function
GO:0003713	transcription coactivator activity	TAS	molecular_function
GO:0004879	RNA polymerase II transcr iption factor activity, l igand-activated sequence- specific DNA binding	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005543	phospholipid binding	IDA	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0006367	transcription initiation from RNA polymerase II pr omoter	TAS	biological_process
GO:0007267	cell-cell signaling	TAS	biological_process
GO:0007538	primary sex determination	TAS	biological_process
GO:0008270	zinc ion binding	IEA	molecular_function
GO:0008584	male gonad development	IEA	biological_process
GO:0009755	hormone-mediated signalin g pathway	IBA	biological_process
GO:0009888	tissue development	IBA	biological_process
GO:0010259	multicellular organism ag ing	IEA	biological_process
GO:0019899	enzyme binding	IPI	molecular_function
GO:0019899	enzyme binding	IPI	molecular_function
GO:0030154	cell differentiation	IEA	biological_process
GO:0030325	adrenal gland development	IEA	biological_process
GO:0030522	intracellular receptor si gnaling pathway	IEA	biological_process
GO:0042445	hormone metabolic process	IEA	biological_process
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0050810	regulation of steroid bio synthetic process	TAS	biological_process
GO:0051457	maintenance of protein lo cation in nucleus	IEA	biological_process
GO:0090575	RNA polymerase II transcr iption factor complex	ISS	cellular_component
GO:0090575	RNA polymerase II transcr iption factor complex	IBA	cellular_component
GO:2000020	positive regulation of ma le gonad development	IDA	biological_process
GO:2000195	negative regulation of fe male gonad development	IEA	biological_process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular_function
GO:0000980	RNA polymerase II distal enhancer sequence-specifi c DNA binding	IEA	molecular_function
GO:0000980	RNA polymerase II distal enhancer sequence-specifi c DNA binding	ISS	molecular_function
GO:0001553	luteinization	IEA	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IDA	molecular_function
GO:0003682	chromatin binding	IEA	molecular_function
GO:0003682	chromatin binding	ISS	molecular_function
GO:0003682	chromatin binding	IBA	molecular_function
GO:0003690	double-stranded DNA bindi ng	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific binding	IDA	molecular_function
GO:0003707	steroid hormone receptor activity	IEA	molecular_function
GO:0003713	transcription coactivator activity	TAS	molecular_function
GO:0004879	RNA polymerase II transcr iption factor activity, l igand-activated sequence- specific DNA binding	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005543	phospholipid binding	IDA	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	IEA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological_process
GO:0006367	transcription initiation from RNA polymerase II pr omoter	TAS	biological_process
GO:0007267	cell-cell signaling	TAS	biological_process
GO:0007538	primary sex determination	TAS	biological_process
GO:0008270	zinc ion binding	IEA	molecular_function
GO:0008289	lipid binding	IEA	molecular_function
GO:0008584	male gonad development	IEA	biological_process
GO:0008584	male gonad development	TAS	biological_process
GO:0008585	female gonad development	IEA	biological_process
GO:0009755	hormone-mediated signalin g pathway	IBA	biological_process
GO:0009888	tissue development	IEA	biological_process
GO:0009888	tissue development	IBA	biological_process
GO:0010259	multicellular organism ag ing	IEA	biological_process
GO:0019899	enzyme binding	IPI	molecular_function
GO:0019899	enzyme binding	IPI	molecular_function
GO:0022414	reproductive process	IEA	biological_process
GO:0030154	cell differentiation	IEA	biological_process
GO:0030325	adrenal gland development	IEA	biological_process
GO:0030522	intracellular receptor si gnaling pathway	IEA	biological_process
GO:0042445	hormone metabolic process	IEA	biological_process
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological_process
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0045893	positive regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0050810	regulation of steroid bio synthetic process	TAS	biological_process
GO:0051457	maintenance of protein lo cation in nucleus	IEA	biological_process
GO:0090575	RNA polymerase II transcr iption factor complex	IEA	cellular_component
GO:0090575	RNA polymerase II transcr iption factor complex	ISS	cellular_component
GO:0090575	RNA polymerase II transcr iption factor complex	IBA	cellular_component
GO:2000020	positive regulation of ma le gonad development	IEA	biological_process
GO:2000020	positive regulation of ma le gonad development	IDA	biological_process
GO:2000195	negative regulation of fe male gonad development	IEA	biological_process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular_function
GO:0000980	RNA polymerase II distal enhancer sequence-specifi c DNA binding	ISS	molecular_function
GO:0003677	DNA binding	IDA	molecular_function
GO:0003682	chromatin binding	ISS	molecular_function
GO:0003682	chromatin binding	IBA	molecular_function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific binding	IDA	molecular_function
GO:0003713	transcription coactivator activity	TAS	molecular_function
GO:0004879	RNA polymerase II transcr iption factor activity, l igand-activated sequence- specific DNA binding	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005543	phospholipid binding	IDA	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0006367	transcription initiation from RNA polymerase II pr omoter	TAS	biological_process
GO:0007267	cell-cell signaling	TAS	biological_process
GO:0007538	primary sex determination	TAS	biological_process
GO:0008584	male gonad development	TAS	biological_process
GO:0009755	hormone-mediated signalin g pathway	IBA	biological_process
GO:0009888	tissue development	IBA	biological_process
GO:0019899	enzyme binding	IPI	molecular_function
GO:0019899	enzyme binding	IPI	molecular_function
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0050810	regulation of steroid bio synthetic process	TAS	biological_process
GO:0090575	RNA polymerase II transcr iption factor complex	ISS	cellular_component
GO:0090575	RNA polymerase II transcr iption factor complex	IBA	cellular_component
GO:2000020	positive regulation of ma le gonad development	IDA	biological_process

Diseases

Associated diseases	References
46 XX disorders of sex development (DSD)	PMID: 21340153
46 XY is gonadal dysgenesis	PMID: 25502990
46 XY sex reversal	PMID: 20350242
Adrenal insufficiency	PMID: 19439508
Adrenocortical insufficiency	PMID: 11038323, OMIM: 184757
Ambiguous genitalia	PMID: 24405868
Anorchia	PMID: 21853106
Atrophic vasa deferentia and epididymides	PMID: 17656604
Azoospermia	PMID: 20887963
Clitoromegaly	PMID: 20302644
Complete gonadal dysgenesis	PMID: 24056159
Cryptorchidism	PMID: 16500365
Cryptorchidism	PMID: 21788424
Diabetes	PMID: 16564598
Endometrial cancer	PMID: 19549922
Endometriosis	PMID: 19001523
Female infertility	PMID: 22080441
Gonadal dysgenesis	PMID: 22907560
Hypogonadotropic hypogonadism	PMID: 16684822
Hypospadias	PMID: 23729601
Hypospermatogenesis	PMID: 16834661
Idiopathic micropenis	PMID: 21535007
Male infertility	PMID: 22028768
Micropenis	PMID: 16127213
Oligomenorrhea	PMID: 11297612
Oligozoospermia	PMID: 23299922
Ovarian endometriosis	INFBASE23450049
Ovarian endometriosis	INFBASE19875956
Endometriosis	INFBASE17519303
Ovarian endometriosis	PMID: 23450049
Partial androgen insensitivity syndrome (PAIS)	PMID: 17488792
Penoscrotal hypospadias	PMID: 19439508
Pfeiffer syndrome	KEGG: H01756
Phallic hypoplasia	PMID: 17694559
Premature ovarian failure ( POF)	PMID: 24073220
Primary amenorrhea	PMID: 15579739
Primary ovarian insufficiency (POI)	PMID: 22100173
Pseudohermaphroditism	PMID: 15379426
Sertoli cell-only syndrome (SCOS)	PMID: 22474171
Spermatogenetic defects	KEGG: H01282, OMIM: 184757
Testicular dysgenesis syndrome(TDS)	PMID: 17488792
Uterine or ovarian hypoplasia	PMID: 23096908

PubMed references

PMID	Condition	Population details	Infertility_type	Associated_genes	Abstract
19001523	Endometrio sis			StAR side chain cleavage P450 3beta-hydroxysteroid-dehydrogenase-2 17-hydroxylase/17-20-lyase aromatase SF1 COUP-TFII WT1	Show abstract
26530052	Endometrio sis	44 (16 patients with endometri osis and 28 con trols)	Female infertility	CYP19 PII LRH-1 and SF-1	Show abstract
26453052	Endometrio sis	86(37 women und ergoing diagnos tic laparoscopy for endometrio sis associated with pain and/o r infertility, 49 women withou t endometriosis undergoing lap aroscopy for tu bal ligation or hysterectomy f or a benign non -endometrial gy necologic condi tion (controls)	Female infertility	USF2a ER GPER and USF2b	Show abstract
21926385	Endometrio sis	16 (8 Eutopic e ndometrium from disease-free p articipants, 8 cystic endometr iosis lesions o f the ovaries)		SF-1	Show abstract
18165439	Endometrio sis			USF2 SF-1 StAR aromatase	Show abstract
17519303	Endometrio sis	16 (8 eutopic e ndometrium from disease-free s ubjects, 8 cyst ic endometriosi s lesions of th e ovaries)		SF-1	Show abstract
19930843	Endometrio sis	63 (38 cases of endometriosis with ectopic en dometria, 25 no rmal endometria (controls))		SF-1 StAR	Show abstract
23450049	Ovarian en dometriosi s	38 (23 women wi th American Fer tility Society stage III-IV ov arian endometri osis, 15 diseas e-free control subjects)	Female infertility	miR23a/b SF-1 CYP19A1 StAR	Show abstract
19875956	Ovarian en dometriosi s	40 (30 cases of ovarian endome triosis (prolif erative, n=15; secretory phase , n=15), 10 cas es of normal eu topic endometri um)		SF-1	Show abstract