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Protein

Steroidogenic factor 1

Gene

NR5A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.By similarity1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei341Lipid headgroup; via amide nitrogen1
Binding sitei436Lipid headgroup1
Binding sitei440Lipid headgroup1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi10 – 85Nuclear receptorPROSITE-ProRule annotationAdd BLAST76
Zinc fingeri13 – 33NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri49 – 73NR C4-typePROSITE-ProRule annotationAdd BLAST25

GO - Molecular functioni

  • chromatin binding Source: BHF-UCL
  • DNA binding Source: UniProtKB
  • enzyme binding Source: UniProtKB
  • phospholipid binding Source: UniProtKB
  • RNA polymerase II distal enhancer sequence-specific DNA binding Source: BHF-UCL
  • RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding Source: ProtInc
  • steroid hormone receptor activity Source: InterPro
  • transcription coactivator activity Source: ProtInc
  • transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding Source: UniProtKB
  • transcription regulatory region sequence-specific DNA binding Source: GO_Central
  • zinc ion binding Source: InterPro

GO - Biological processi

  • adrenal gland development Source: Ensembl
  • cell-cell signaling Source: ProtInc
  • cell differentiation Source: Ensembl
  • hormone-mediated signaling pathway Source: GO_Central
  • hormone metabolic process Source: Ensembl
  • luteinization Source: Ensembl
  • maintenance of protein location in nucleus Source: Ensembl
  • male gonad development Source: ProtInc
  • multicellular organism aging Source: Ensembl
  • negative regulation of female gonad development Source: Ensembl
  • positive regulation of male gonad development Source: UniProtKB
  • positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  • primary sex determination Source: ProtInc
  • regulation of steroid biosynthetic process Source: UniProtKB
  • tissue development Source: GO_Central
  • transcription initiation from RNA polymerase II promoter Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Activator, Receptor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Lipid-binding, Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000136931-MONOMER.
ReactomeiR-HSA-383280. Nuclear Receptor transcription pathway.
R-HSA-452723. Transcriptional regulation of pluripotent stem cells.
SignaLinkiQ13285.
SIGNORiQ13285.

Names & Taxonomyi

Protein namesi
Recommended name:
Steroidogenic factor 1
Short name:
SF-1
Short name:
STF-1
Short name:
hSF-11 Publication
Alternative name(s):
Adrenal 4-binding protein
Fushi tarazu factor homolog 1
Nuclear receptor subfamily 5 group A member 1
Steroid hormone receptor Ad4BP
Gene namesi
Name:NR5A1
Synonyms:AD4BP, FTZF1, SF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:7983. NR5A1.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation1 Publication

GO - Cellular componenti

  • nucleoplasm Source: Reactome
  • nucleus Source: UniProtKB
  • RNA polymerase II transcription factor complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

46,XY sex reversal 3 (SRXY3)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype.
See also OMIM:612965
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06325515V → M in SRXY3; without adrenal failure. 1 PublicationCorresponds to variant rs104894124dbSNPEnsembl.1
Natural variantiVAR_03910633C → S in SRXY3; without adrenal failure; markedly impaired transcriptional activity. 1 Publication1
Natural variantiVAR_00473735G → E in SRXY3; with adrenal failure. 1 PublicationCorresponds to variant rs121918654dbSNPEnsembl.1
Natural variantiVAR_06325678M → I in SRXY3; without adrenal failure. 1 PublicationCorresponds to variant rs104894125dbSNPEnsembl.1
Natural variantiVAR_03910784R → H in SRXY3; without adrenal failure; markedly impaired transcriptional activity. 1 PublicationCorresponds to variant rs375469069dbSNPEnsembl.1
Natural variantiVAR_06325791G → S in SRXY3; without adrenal failure. 1 PublicationCorresponds to variant rs104894126dbSNPEnsembl.1
Natural variantiVAR_01698292R → Q in SRXY3; with adrenal failure. 1 PublicationCorresponds to variant rs104894119dbSNPEnsembl.1
Natural variantiVAR_063258437L → Q in SRXY3; without adrenal failure. 1 PublicationCorresponds to variant rs104894120dbSNPEnsembl.1
Adrenocortical insufficiency, without ovarian defect (ACIWOD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder that is characterized by severe 'slackness,' muscular hypotonia. There is decreased sodium, increased potassium and elevated ACTH.
See also OMIM:184757
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_016983255R → L in ACIWOD. 1 PublicationCorresponds to variant rs104894118dbSNPEnsembl.1
Premature ovarian failure 7 (POF7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:612964
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062967123G → A in SPGF8 and POF7; activity levels similar to wild-type. 2 PublicationsCorresponds to variant rs200163795dbSNPEnsembl.1
Natural variantiVAR_062968129P → L in SPGF8 and POF7; loss of activity. 2 PublicationsCorresponds to variant rs200749741dbSNPEnsembl.1
Natural variantiVAR_062969231 – 233Missing in POF7. 1 Publication3
Natural variantiVAR_062970293D → N in POF7; without adrenal failure; partial loss of activity. 1 PublicationCorresponds to variant rs121918655dbSNPEnsembl.1
Spermatogenic failure 8 (SPGF8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn infertility disorder characterized by spermatogenesis failure and severe oligozoospermia.
See also OMIM:613957
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062967123G → A in SPGF8 and POF7; activity levels similar to wild-type. 2 PublicationsCorresponds to variant rs200163795dbSNPEnsembl.1
Natural variantiVAR_062968129P → L in SPGF8 and POF7; loss of activity. 2 PublicationsCorresponds to variant rs200749741dbSNPEnsembl.1
Natural variantiVAR_065866131P → L in SPGF8; impairs transactivational activity. 1 PublicationCorresponds to variant rs387906690dbSNPEnsembl.1
Natural variantiVAR_065867191R → C in SPGF8; impairs transactivational activity. 1 Publication1
Natural variantiVAR_065868212G → S in SPGF8; impairs transactivational activity. 1 PublicationCorresponds to variant rs201095702dbSNPEnsembl.1
Natural variantiVAR_065869238D → N in SPGF8; impairs transactivational activity. 1 PublicationCorresponds to variant rs780568525dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi119K → R: Loss of sumoylation; when associated with R-194. 1 Publication1
Mutagenesisi194K → R: Loss of sumoylation. 1 Publication1
Mutagenesisi269A → F: Strongly reduced transactivation. 1 Publication1
Mutagenesisi341G → E: Reduced transactivation. Strongly reduced transactivation; when associated with F-344. 1 Publication1
Mutagenesisi344L → F: Reduced transactivation. Strongly reduced transactivation; when associated with E-341. 1 Publication1
Mutagenesisi433A → F: Strongly reduced transactivation. 1 Publication1
Mutagenesisi436Y → F: Loss of transactivation; when associated with A-440. 1 Publication1
Mutagenesisi440K → A: Loss of transactivation; when associated with F-436. 1 Publication1

Keywords - Diseasei

Disease mutation, Premature ovarian failure

Organism-specific databases

DisGeNETi2516.
MalaCardsiNR5A1.
MIMi184757. gene+phenotype.
612964. phenotype.
612965. phenotype.
613957. phenotype.
OpenTargetsiENSG00000136931.
Orphaneti243. 46,XX gonadal dysgenesis.
242. 46,XY complete gonadal dysgenesis.
251510. 46,XY partial gonadal dysgenesis.
399805. Male infertility with azoospermia or oligozoospermia due to single gene mutation.
619. Primary ovarian failure.
PharmGKBiPA31764.

Chemistry databases

ChEMBLiCHEMBL4666.

Polymorphism and mutation databases

BioMutaiNR5A1.
DMDMi3121738.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000537291 – 461Steroidogenic factor 1Add BLAST461

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei34N6-acetyllysine1 Publication1
Modified residuei38N6-acetyllysine1 Publication1
Modified residuei72N6-acetyllysine1 Publication1
Cross-linki119Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
Cross-linki194Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
Modified residuei203Phosphoserine; by CDK73 Publications1

Post-translational modificationi

Acetylation stimulates the transcriptional activity.1 Publication
Sumoylation reduces CDK7-mediated phosphorylation on Ser-203.2 Publications
Phosphorylated on Ser-203 by CDK7. This phosphorylation promotes transcriptional activity.3 Publications

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

PaxDbiQ13285.
PeptideAtlasiQ13285.
PRIDEiQ13285.

PTM databases

iPTMnetiQ13285.
PhosphoSitePlusiQ13285.

Expressioni

Tissue specificityi

High expressed in the adrenal cortex, the ovary, the testis, and the spleen (PubMed:9177385).1 Publication

Gene expression databases

BgeeiENSG00000136931.
CleanExiHS_NR5A1.
HS_SF1.
ExpressionAtlasiQ13285. baseline and differential.
GenevisibleiQ13285. HS.

Interactioni

Subunit structurei

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.By similarity6 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
NCK2O436393EBI-874629,EBI-713635
NR0B1P518433EBI-874629,EBI-946109

GO - Molecular functioni

  • enzyme binding Source: UniProtKB

Protein-protein interaction databases

BioGridi108792. 26 interactors.
IntActiQ13285. 41 interactors.
MINTiMINT-215481.
STRINGi9606.ENSP00000362690.

Chemistry databases

BindingDBiQ13285.

Structurei

Secondary structure

1461
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi225 – 233Combined sources9
Helixi239 – 243Combined sources5
Helixi262 – 282Combined sources21
Helixi286 – 288Combined sources3
Helixi291 – 317Combined sources27
Beta strandi322 – 324Combined sources3
Beta strandi326 – 328Combined sources3
Beta strandi330 – 332Combined sources3
Helixi333 – 339Combined sources7
Helixi342 – 360Combined sources19
Helixi365 – 376Combined sources12
Helixi381 – 383Combined sources3
Helixi387 – 408Combined sources22
Beta strandi411 – 413Combined sources3
Helixi415 – 442Combined sources28
Helixi451 – 456Combined sources6

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1YOWX-ray3.00A222-461[»]
1ZDTX-ray2.10A/B221-461[»]
4QJRX-ray2.40A218-461[»]
4QK4X-ray2.81A218-461[»]
ProteinModelPortaliQ13285.
SMRiQ13285.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ13285.

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni230 – 461Important for dimerizationAdd BLAST232
Regioni260 – 347Ligand-bindingAdd BLAST88

Sequence similaritiesi

Contains 1 nuclear receptor DNA-binding domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri13 – 33NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri49 – 73NR C4-typePROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiKOG4218. Eukaryota.
ENOG410YWC2. LUCA.
GeneTreeiENSGT00850000132285.
HOGENOMiHOG000063718.
HOVERGENiHBG106677.
InParanoidiQ13285.
KOiK08560.
OMAiLQEPAKG.
OrthoDBiEOG091G06RK.
PhylomeDBiQ13285.
TreeFamiTF350737.

Family and domain databases

Gene3Di1.10.565.10. 1 hit.
3.30.50.10. 1 hit.
InterProiIPR016355. NR5_fam.
IPR000536. Nucl_hrmn_rcpt_lig-bd.
IPR001723. Nuclear_hrmn_rcpt.
IPR001628. Znf_hrmn_rcpt.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PANTHERiPTHR24086. PTHR24086. 1 hit.
PfamiPF00104. Hormone_recep. 1 hit.
PF00105. zf-C4. 1 hit.
[Graphical view]
PIRSFiPIRSF002530. Nuc_orph_FTZ-F1. 1 hit.
PRINTSiPR00398. STRDHORMONER.
PR00047. STROIDFINGER.
SMARTiSM00430. HOLI. 1 hit.
SM00399. ZnF_C4. 1 hit.
[Graphical view]
SUPFAMiSSF48508. SSF48508. 2 hits.
PROSITEiPS00031. NUCLEAR_REC_DBD_1. 1 hit.
PS51030. NUCLEAR_REC_DBD_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q13285-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDYSYDEDLD ELCPVCGDKV SGYHYGLLTC ESCKGFFKRT VQNNKHYTCT
60 70 80 90 100
ESQSCKIDKT QRKRCPFCRF QKCLTVGMRL EAVRADRMRG GRNKFGPMYK
110 120 130 140 150
RDRALKQQKK AQIRANGFKL ETGPPMGVPP PPPPAPDYVL PPSLHGPEPK
160 170 180 190 200
GLAAGPPAGP LGDFGAPALP MAVPGAHGPL AGYLYPAFPG RAIKSEYPEP
210 220 230 240 250
YASPPQPGLP YGYPEPFSGG PNVPELILQL LQLEPDEDQV RARILGCLQE
260 270 280 290 300
PTKSRPDQPA AFGLLCRMAD QTFISIVDWA RRCMVFKELE VADQMTLLQN
310 320 330 340 350
CWSELLVFDH IYRQVQHGKE GSILLVTGQE VELTTVATQA GSLLHSLVLR
360 370 380 390 400
AQELVLQLLA LQLDRQEFVC LKFIILFSLD LKFLNNHILV KDAQEKANAA
410 420 430 440 450
LLDYTLCHYP HCGDKFQQLL LCLVEVRALS MQAKEYLYHK HLGNEMPRNN
460
LLIEMLQAKQ T
Length:461
Mass (Da):51,636
Last modified:January 1, 1998 - v2
Checksum:i622644C62794826C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti63K → N in BAA13546 (PubMed:8806624).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06325515V → M in SRXY3; without adrenal failure. 1 PublicationCorresponds to variant rs104894124dbSNPEnsembl.1
Natural variantiVAR_03910633C → S in SRXY3; without adrenal failure; markedly impaired transcriptional activity. 1 Publication1
Natural variantiVAR_00473735G → E in SRXY3; with adrenal failure. 1 PublicationCorresponds to variant rs121918654dbSNPEnsembl.1
Natural variantiVAR_06325678M → I in SRXY3; without adrenal failure. 1 PublicationCorresponds to variant rs104894125dbSNPEnsembl.1
Natural variantiVAR_03910784R → H in SRXY3; without adrenal failure; markedly impaired transcriptional activity. 1 PublicationCorresponds to variant rs375469069dbSNPEnsembl.1
Natural variantiVAR_06325791G → S in SRXY3; without adrenal failure. 1 PublicationCorresponds to variant rs104894126dbSNPEnsembl.1
Natural variantiVAR_01698292R → Q in SRXY3; with adrenal failure. 1 PublicationCorresponds to variant rs104894119dbSNPEnsembl.1
Natural variantiVAR_062967123G → A in SPGF8 and POF7; activity levels similar to wild-type. 2 PublicationsCorresponds to variant rs200163795dbSNPEnsembl.1
Natural variantiVAR_062968129P → L in SPGF8 and POF7; loss of activity. 2 PublicationsCorresponds to variant rs200749741dbSNPEnsembl.1
Natural variantiVAR_065866131P → L in SPGF8; impairs transactivational activity. 1 PublicationCorresponds to variant rs387906690dbSNPEnsembl.1
Natural variantiVAR_039108146G → A.2 PublicationsCorresponds to variant rs1110061dbSNPEnsembl.1
Natural variantiVAR_065867191R → C in SPGF8; impairs transactivational activity. 1 Publication1
Natural variantiVAR_065868212G → S in SPGF8; impairs transactivational activity. 1 PublicationCorresponds to variant rs201095702dbSNPEnsembl.1
Natural variantiVAR_062969231 – 233Missing in POF7. 1 Publication3
Natural variantiVAR_065869238D → N in SPGF8; impairs transactivational activity. 1 PublicationCorresponds to variant rs780568525dbSNPEnsembl.1
Natural variantiVAR_016983255R → L in ACIWOD. 1 PublicationCorresponds to variant rs104894118dbSNPEnsembl.1
Natural variantiVAR_062970293D → N in POF7; without adrenal failure; partial loss of activity. 1 PublicationCorresponds to variant rs121918655dbSNPEnsembl.1
Natural variantiVAR_063258437L → Q in SRXY3; without adrenal failure. 1 PublicationCorresponds to variant rs104894120dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D88155 Genomic DNA. Translation: BAA13546.1.
U76388 mRNA. Translation: AAB53105.1.
AL137846, AL354979 Genomic DNA. Translation: CAI10872.1.
AL354979, AL137846 Genomic DNA. Translation: CAI10959.1.
CH471090 Genomic DNA. Translation: EAW87591.1.
BC032501 mRNA. Translation: AAH32501.1.
U32592 Genomic DNA. Translation: AAA75332.1.
CCDSiCCDS6856.1.
PIRiJC4972.
RefSeqiNP_004950.2. NM_004959.4.
XP_005251928.1. XM_005251871.3.
XP_011516757.1. XM_011518455.2.
UniGeneiHs.495108.

Genome annotation databases

EnsembliENST00000373588; ENSP00000362690; ENSG00000136931.
GeneIDi2516.
KEGGihsa:2516.
UCSCiuc004boo.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D88155 Genomic DNA. Translation: BAA13546.1.
U76388 mRNA. Translation: AAB53105.1.
AL137846, AL354979 Genomic DNA. Translation: CAI10872.1.
AL354979, AL137846 Genomic DNA. Translation: CAI10959.1.
CH471090 Genomic DNA. Translation: EAW87591.1.
BC032501 mRNA. Translation: AAH32501.1.
U32592 Genomic DNA. Translation: AAA75332.1.
CCDSiCCDS6856.1.
PIRiJC4972.
RefSeqiNP_004950.2. NM_004959.4.
XP_005251928.1. XM_005251871.3.
XP_011516757.1. XM_011518455.2.
UniGeneiHs.495108.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1YOWX-ray3.00A222-461[»]
1ZDTX-ray2.10A/B221-461[»]
4QJRX-ray2.40A218-461[»]
4QK4X-ray2.81A218-461[»]
ProteinModelPortaliQ13285.
SMRiQ13285.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108792. 26 interactors.
IntActiQ13285. 41 interactors.
MINTiMINT-215481.
STRINGi9606.ENSP00000362690.

Chemistry databases

BindingDBiQ13285.
ChEMBLiCHEMBL4666.

PTM databases

iPTMnetiQ13285.
PhosphoSitePlusiQ13285.

Polymorphism and mutation databases

BioMutaiNR5A1.
DMDMi3121738.

Proteomic databases

PaxDbiQ13285.
PeptideAtlasiQ13285.
PRIDEiQ13285.

Protocols and materials databases

DNASUi2516.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373588; ENSP00000362690; ENSG00000136931.
GeneIDi2516.
KEGGihsa:2516.
UCSCiuc004boo.2. human.

Organism-specific databases

CTDi2516.
DisGeNETi2516.
GeneCardsiNR5A1.
GeneReviewsiNR5A1.
HGNCiHGNC:7983. NR5A1.
MalaCardsiNR5A1.
MIMi184757. gene+phenotype.
612964. phenotype.
612965. phenotype.
613957. phenotype.
neXtProtiNX_Q13285.
OpenTargetsiENSG00000136931.
Orphaneti243. 46,XX gonadal dysgenesis.
242. 46,XY complete gonadal dysgenesis.
251510. 46,XY partial gonadal dysgenesis.
399805. Male infertility with azoospermia or oligozoospermia due to single gene mutation.
619. Primary ovarian failure.
PharmGKBiPA31764.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4218. Eukaryota.
ENOG410YWC2. LUCA.
GeneTreeiENSGT00850000132285.
HOGENOMiHOG000063718.
HOVERGENiHBG106677.
InParanoidiQ13285.
KOiK08560.
OMAiLQEPAKG.
OrthoDBiEOG091G06RK.
PhylomeDBiQ13285.
TreeFamiTF350737.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000136931-MONOMER.
ReactomeiR-HSA-383280. Nuclear Receptor transcription pathway.
R-HSA-452723. Transcriptional regulation of pluripotent stem cells.
SignaLinkiQ13285.
SIGNORiQ13285.

Miscellaneous databases

EvolutionaryTraceiQ13285.
GeneWikiiSteroidogenic_factor_1.
GenomeRNAii2516.
PROiQ13285.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000136931.
CleanExiHS_NR5A1.
HS_SF1.
ExpressionAtlasiQ13285. baseline and differential.
GenevisibleiQ13285. HS.

Family and domain databases

Gene3Di1.10.565.10. 1 hit.
3.30.50.10. 1 hit.
InterProiIPR016355. NR5_fam.
IPR000536. Nucl_hrmn_rcpt_lig-bd.
IPR001723. Nuclear_hrmn_rcpt.
IPR001628. Znf_hrmn_rcpt.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PANTHERiPTHR24086. PTHR24086. 1 hit.
PfamiPF00104. Hormone_recep. 1 hit.
PF00105. zf-C4. 1 hit.
[Graphical view]
PIRSFiPIRSF002530. Nuc_orph_FTZ-F1. 1 hit.
PRINTSiPR00398. STRDHORMONER.
PR00047. STROIDFINGER.
SMARTiSM00430. HOLI. 1 hit.
SM00399. ZnF_C4. 1 hit.
[Graphical view]
SUPFAMiSSF48508. SSF48508. 2 hits.
PROSITEiPS00031. NUCLEAR_REC_DBD_1. 1 hit.
PS51030. NUCLEAR_REC_DBD_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSTF1_HUMAN
AccessioniPrimary (citable) accession number: Q13285
Secondary accession number(s): O15196, Q5T6F5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 1, 1998
Last modified: November 30, 2016
This is version 189 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.