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Q13285

- STF1_HUMAN

UniProt

Q13285 - STF1_HUMAN

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Protein

Steroidogenic factor 1

Gene

NR5A1

Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei341 – 3411Lipid headgroup; via amide nitrogen
Binding sitei436 – 4361Lipid headgroup
Binding sitei440 – 4401Lipid headgroup

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi10 – 8576Nuclear receptorPROSITE-ProRule annotationAdd
BLAST
Zinc fingeri13 – 3321NR C4-typePROSITE-ProRule annotationAdd
BLAST
Zinc fingeri49 – 7325NR C4-typePROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. chromatin binding Source: Ensembl
  2. DNA binding Source: UniProtKB
  3. double-stranded DNA binding Source: Ensembl
  4. enzyme binding Source: UniProtKB
  5. ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity Source: ProtInc
  6. phospholipid binding Source: UniProtKB
  7. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: UniProtKB
  8. sequence-specific DNA binding Source: Ensembl
  9. steroid hormone receptor activity Source: InterPro
  10. transcription coactivator activity Source: ProtInc
  11. zinc ion binding Source: InterPro

GO - Biological processi

  1. adrenal gland development Source: Ensembl
  2. cell-cell signaling Source: ProtInc
  3. cell differentiation Source: Ensembl
  4. gene expression Source: Reactome
  5. hormone metabolic process Source: Ensembl
  6. intracellular receptor signaling pathway Source: GOC
  7. luteinization Source: Ensembl
  8. maintenance of protein location in nucleus Source: Ensembl
  9. male gonad development Source: ProtInc
  10. multicellular organismal aging Source: Ensembl
  11. negative regulation of female gonad development Source: Ensembl
  12. positive regulation of male gonad development Source: UniProtKB
  13. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  14. primary sex determination Source: ProtInc
  15. regulation of steroid biosynthetic process Source: UniProtKB
  16. tissue development Source: Ensembl
  17. 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

ReactomeiREACT_15525. Nuclear Receptor transcription pathway.
REACT_200812. Transcriptional regulation of pluripotent stem cells.
SignaLinkiQ13285.

Names & Taxonomyi

Protein namesi
Recommended name:
Steroidogenic factor 1
Short name:
SF-1
Short name:
STF-1
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
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:7983. NR5A1.

Subcellular locationi

Nucleus 1 PublicationPROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleoplasm Source: Reactome
  2. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

46,XY sex reversal 3 (SRXY3) [MIM:612965]: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151V → M in SRXY3; without adrenal failure. 1 Publication
VAR_063255
Natural varianti33 – 331C → S in SRXY3; without adrenal failure; markedly impaired transcriptional activity. 1 Publication
VAR_039106
Natural varianti35 – 351G → E in SRXY3; with adrenal failure. 1 Publication
VAR_004737
Natural varianti78 – 781M → I in SRXY3; without adrenal failure. 1 Publication
VAR_063256
Natural varianti84 – 841R → H in SRXY3; without adrenal failure; markedly impaired transcriptional activity. 1 Publication
VAR_039107
Natural varianti91 – 911G → S in SRXY3; without adrenal failure. 1 Publication
VAR_063257
Natural varianti92 – 921R → Q in SRXY3; with adrenal failure. 1 Publication
VAR_016982
Natural varianti437 – 4371L → Q in SRXY3; without adrenal failure. 1 Publication
VAR_063258
Adrenocortical insufficiency, without ovarian defect (ACIWOD) [MIM:184757]: A disorder that is characterized by severe 'slackness,' muscular hypotonia. There is decreased sodium, increased potassium and elevated ACTH.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti255 – 2551R → L in ACIWOD. 1 Publication
VAR_016983
Premature ovarian failure 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti123 – 1231G → A in SPGF8 and POF7; activity levels similar to wild-type. 2 Publications
Corresponds to variant rs200163795 [ dbSNP | Ensembl ].
VAR_062967
Natural varianti129 – 1291P → L in SPGF8 and POF7; loss of activity. 2 Publications
Corresponds to variant rs200749741 [ dbSNP | Ensembl ].
VAR_062968
Natural varianti231 – 2333Missing in POF7. 1 Publication
VAR_062969
Natural varianti293 – 2931D → N in POF7; without adrenal failure; partial loss of activity. 1 Publication
VAR_062970
Spermatogenic failure 8 (SPGF8) [MIM:613957]: An infertility disorder characterized by spermatogenesis failure and severe oligozoospermia.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti123 – 1231G → A in SPGF8 and POF7; activity levels similar to wild-type. 2 Publications
Corresponds to variant rs200163795 [ dbSNP | Ensembl ].
VAR_062967
Natural varianti129 – 1291P → L in SPGF8 and POF7; loss of activity. 2 Publications
Corresponds to variant rs200749741 [ dbSNP | Ensembl ].
VAR_062968
Natural varianti131 – 1311P → L in SPGF8; impairs transactivational activity. 1 Publication
VAR_065866
Natural varianti191 – 1911R → C in SPGF8; impairs transactivational activity. 1 Publication
VAR_065867
Natural varianti212 – 2121G → S in SPGF8; impairs transactivational activity. 1 Publication
Corresponds to variant rs201095702 [ dbSNP | Ensembl ].
VAR_065868
Natural varianti238 – 2381D → N in SPGF8; impairs transactivational activity. 1 Publication
VAR_065869

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi119 – 1191K → R: Loss of sumoylation; when associated with R-194. 1 Publication
Mutagenesisi194 – 1941K → R: Loss of sumoylation. 1 Publication
Mutagenesisi269 – 2691A → F: Strongly reduced transactivation. 1 Publication
Mutagenesisi341 – 3411G → E: Reduced transactivation. Strongly reduced transactivation; when associated with F-344. 1 Publication
Mutagenesisi344 – 3441L → F: Reduced transactivation. Strongly reduced transactivation; when associated with E-341. 1 Publication
Mutagenesisi433 – 4331A → F: Strongly reduced transactivation. 1 Publication
Mutagenesisi436 – 4361Y → F: Loss of transactivation; when associated with A-440. 1 Publication
Mutagenesisi440 – 4401K → A: Loss of transactivation; when associated with F-436. 1 Publication

Keywords - Diseasei

Disease mutation, Premature ovarian failure

Organism-specific databases

MIMi184757. gene+phenotype.
612964. phenotype.
612965. phenotype.
613957. phenotype.
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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 461461Steroidogenic factor 1PRO_0000053729Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei34 – 341N6-acetyllysine1 Publication
Modified residuei38 – 381N6-acetyllysine1 Publication
Modified residuei72 – 721N6-acetyllysine1 Publication
Cross-linki119 – 119Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
Cross-linki194 – 194Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
Modified residuei203 – 2031Phosphoserine; by CDK73 Publications

Post-translational modificationi

Acetylation stimulates the transcriptional activity.1 Publication
Sumoylation reduces CDK7-mediated phosophorylation 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.
PRIDEiQ13285.

PTM databases

PhosphoSiteiQ13285.

Expressioni

Gene expression databases

BgeeiQ13285.
CleanExiHS_NR5A1.
HS_SF1.
ExpressionAtlasiQ13285. baseline.
GenevestigatoriQ13285.

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

Protein-protein interaction databases

BioGridi108792. 24 interactions.
IntActiQ13285. 8 interactions.
MINTiMINT-215481.
STRINGi9606.ENSP00000362690.

Structurei

Secondary structure

1
461
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi225 – 2339Combined sources
Helixi239 – 2435Combined sources
Helixi262 – 28221Combined sources
Helixi286 – 2883Combined sources
Helixi291 – 31727Combined sources
Beta strandi322 – 3243Combined sources
Beta strandi326 – 3283Combined sources
Beta strandi330 – 3323Combined sources
Helixi333 – 3397Combined sources
Helixi342 – 36019Combined sources
Helixi365 – 37612Combined sources
Helixi381 – 3833Combined sources
Helixi387 – 40822Combined sources
Beta strandi411 – 4133Combined sources
Helixi415 – 44228Combined sources
Helixi451 – 4566Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1YOWX-ray3.00A222-461[»]
1ZDTX-ray2.10A/B221-461[»]
4QJRX-ray2.40A218-461[»]
4QK4X-ray2.81A218-461[»]
ProteinModelPortaliQ13285.
SMRiQ13285. Positions 10-136, 221-459.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ13285.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni230 – 461232Important for dimerizationAdd
BLAST
Regioni260 – 34788Ligand-bindingAdd
BLAST

Sequence similaritiesi

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

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri13 – 3321NR C4-typePROSITE-ProRule annotationAdd
BLAST
Zinc fingeri49 – 7325NR C4-typePROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiNOG240365.
GeneTreeiENSGT00760000118887.
HOGENOMiHOG000063718.
HOVERGENiHBG106677.
InParanoidiQ13285.
KOiK08560.
OMAiLQEPAKG.
OrthoDBiEOG7BS4B9.
PhylomeDBiQ13285.
TreeFamiTF350737.

Family and domain databases

Gene3Di1.10.565.10. 1 hit.
3.30.50.10. 1 hit.
InterProiIPR008946. Nucl_hormone_rcpt_ligand-bd.
IPR000536. Nucl_hrmn_rcpt_lig-bd_core.
IPR016355. Steroidogenic_factor_1.
IPR001723. Str_hrmn_rcpt.
IPR001628. Znf_hrmn_rcpt.
IPR013088. Znf_NHR/GATA.
[Graphical view]
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti63 – 631K → N in BAA13546. (PubMed:8806624)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151V → M in SRXY3; without adrenal failure. 1 Publication
VAR_063255
Natural varianti33 – 331C → S in SRXY3; without adrenal failure; markedly impaired transcriptional activity. 1 Publication
VAR_039106
Natural varianti35 – 351G → E in SRXY3; with adrenal failure. 1 Publication
VAR_004737
Natural varianti78 – 781M → I in SRXY3; without adrenal failure. 1 Publication
VAR_063256
Natural varianti84 – 841R → H in SRXY3; without adrenal failure; markedly impaired transcriptional activity. 1 Publication
VAR_039107
Natural varianti91 – 911G → S in SRXY3; without adrenal failure. 1 Publication
VAR_063257
Natural varianti92 – 921R → Q in SRXY3; with adrenal failure. 1 Publication
VAR_016982
Natural varianti123 – 1231G → A in SPGF8 and POF7; activity levels similar to wild-type. 2 Publications
Corresponds to variant rs200163795 [ dbSNP | Ensembl ].
VAR_062967
Natural varianti129 – 1291P → L in SPGF8 and POF7; loss of activity. 2 Publications
Corresponds to variant rs200749741 [ dbSNP | Ensembl ].
VAR_062968
Natural varianti131 – 1311P → L in SPGF8; impairs transactivational activity. 1 Publication
VAR_065866
Natural varianti146 – 1461G → A.2 Publications
Corresponds to variant rs1110061 [ dbSNP | Ensembl ].
VAR_039108
Natural varianti191 – 1911R → C in SPGF8; impairs transactivational activity. 1 Publication
VAR_065867
Natural varianti212 – 2121G → S in SPGF8; impairs transactivational activity. 1 Publication
Corresponds to variant rs201095702 [ dbSNP | Ensembl ].
VAR_065868
Natural varianti231 – 2333Missing in POF7. 1 Publication
VAR_062969
Natural varianti238 – 2381D → N in SPGF8; impairs transactivational activity. 1 Publication
VAR_065869
Natural varianti255 – 2551R → L in ACIWOD. 1 Publication
VAR_016983
Natural varianti293 – 2931D → N in POF7; without adrenal failure; partial loss of activity. 1 Publication
VAR_062970
Natural varianti437 – 4371L → Q in SRXY3; without adrenal failure. 1 Publication
VAR_063258

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U76388 mRNA. Translation: AAB53105.1.
D88155 Genomic DNA. Translation: BAA13546.1.
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_005251871.2.
UniGeneiHs.495108.

Genome annotation databases

EnsembliENST00000373588; ENSP00000362690; ENSG00000136931.
GeneIDi2516.
KEGGihsa:2516.
UCSCiuc004boo.1. human.

Polymorphism databases

DMDMi3121738.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U76388 mRNA. Translation: AAB53105.1 .
D88155 Genomic DNA. Translation: BAA13546.1 .
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 .
CCDSi CCDS6856.1.
PIRi JC4972.
RefSeqi NP_004950.2. NM_004959.4.
XP_005251928.1. XM_005251871.2.
UniGenei Hs.495108.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1YOW X-ray 3.00 A 222-461 [» ]
1ZDT X-ray 2.10 A/B 221-461 [» ]
4QJR X-ray 2.40 A 218-461 [» ]
4QK4 X-ray 2.81 A 218-461 [» ]
ProteinModelPortali Q13285.
SMRi Q13285. Positions 10-136, 221-459.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108792. 24 interactions.
IntActi Q13285. 8 interactions.
MINTi MINT-215481.
STRINGi 9606.ENSP00000362690.

Chemistry

BindingDBi Q13285.
ChEMBLi CHEMBL4666.

PTM databases

PhosphoSitei Q13285.

Polymorphism databases

DMDMi 3121738.

Proteomic databases

PaxDbi Q13285.
PRIDEi Q13285.

Protocols and materials databases

DNASUi 2516.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000373588 ; ENSP00000362690 ; ENSG00000136931 .
GeneIDi 2516.
KEGGi hsa:2516.
UCSCi uc004boo.1. human.

Organism-specific databases

CTDi 2516.
GeneCardsi GC09M127243.
GeneReviewsi NR5A1.
HGNCi HGNC:7983. NR5A1.
MIMi 184757. gene+phenotype.
612964. phenotype.
612965. phenotype.
613957. phenotype.
neXtProti NX_Q13285.
Orphaneti 243. 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.
PharmGKBi PA31764.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG240365.
GeneTreei ENSGT00760000118887.
HOGENOMi HOG000063718.
HOVERGENi HBG106677.
InParanoidi Q13285.
KOi K08560.
OMAi LQEPAKG.
OrthoDBi EOG7BS4B9.
PhylomeDBi Q13285.
TreeFami TF350737.

Enzyme and pathway databases

Reactomei REACT_15525. Nuclear Receptor transcription pathway.
REACT_200812. Transcriptional regulation of pluripotent stem cells.
SignaLinki Q13285.

Miscellaneous databases

EvolutionaryTracei Q13285.
GeneWikii Steroidogenic_factor_1.
GenomeRNAii 2516.
NextBioi 9909.
PROi Q13285.
SOURCEi Search...

Gene expression databases

Bgeei Q13285.
CleanExi HS_NR5A1.
HS_SF1.
ExpressionAtlasi Q13285. baseline.
Genevestigatori Q13285.

Family and domain databases

Gene3Di 1.10.565.10. 1 hit.
3.30.50.10. 1 hit.
InterProi IPR008946. Nucl_hormone_rcpt_ligand-bd.
IPR000536. Nucl_hrmn_rcpt_lig-bd_core.
IPR016355. Steroidogenic_factor_1.
IPR001723. Str_hrmn_rcpt.
IPR001628. Znf_hrmn_rcpt.
IPR013088. Znf_NHR/GATA.
[Graphical view ]
Pfami PF00104. Hormone_recep. 1 hit.
PF00105. zf-C4. 1 hit.
[Graphical view ]
PIRSFi PIRSF002530. Nuc_orph_FTZ-F1. 1 hit.
PRINTSi PR00398. STRDHORMONER.
PR00047. STROIDFINGER.
SMARTi SM00430. HOLI. 1 hit.
SM00399. ZnF_C4. 1 hit.
[Graphical view ]
SUPFAMi SSF48508. SSF48508. 2 hits.
PROSITEi PS00031. NUCLEAR_REC_DBD_1. 1 hit.
PS51030. NUCLEAR_REC_DBD_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and characterization of the human steroidogenic factor 1 (SF-1) cDNA."
    Santa Barbara P., Desclozeaux M., Boizet B., Bonneaud N., Laudet V., Poulat F., Berta P.
    Submitted (APR-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Pancreas and Spleen.
  6. "Human SF1 genomic segment."
    Yeh J.R., Chung B.C.
    Submitted (JUL-1995) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 20-75.
  7. "Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: integration of hormone signaling in reproduction and stress."
    Hammer G.D., Krylova I., Zhang Y., Darimont B.D., Simpson K., Weigel N.L., Ingraham H.A.
    Mol. Cell 3:521-526(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT SER-203.
  8. "Acetylation of steroidogenic factor 1 protein regulates its transcriptional activity and recruits the coactivator GCN5."
    Jacob A.L., Lund J., Martinez P., Hedin L.
    J. Biol. Chem. 276:37659-37664(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION AT LYS-34; LYS-38 AND LYS-72, SUBCELLULAR LOCATION.
  9. "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."
    Sewer M.B., Nguyen V.Q., Huang C.J., Tucker P.W., Kagawa N., Waterman M.R.
    Endocrinology 143:1280-1290(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH SFPQ, IDENTIFICATION IN A COMPLEX WITH SFPQ AND NONO.
  10. "Small ubiquitin-like modifier 1 (SUMO-1) modification of the synergy control motif of Ad4 binding protein/steroidogenic factor 1 (Ad4BP/SF-1) regulates synergistic transcription between Ad4BP/SF-1 and Sox9."
    Komatsu T., Mizusaki H., Mukai T., Ogawa H., Baba D., Shirakawa M., Hatakeyama S., Nakayama K.I., Yamamoto H., Kikuchi A., Morohashi K.
    Mol. Endocrinol. 18:2451-2462(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUMOYLATION AT LYS-119 AND LYS-194, MUTAGENESIS OF LYS-119 AND LYS-194.
  11. "Cyclic AMP stimulates SF-1-dependent CYP11A1 expression through homeodomain-interacting protein kinase 3-mediated Jun N-terminal kinase and c-Jun phosphorylation."
    Lan H.-C., Li H.-J., Lin G., Lai P.-Y., Chung B.-C.
    Mol. Cell. Biol. 27:2027-2036(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH HIPK3.
  12. "Cyclic AMP-stimulated interaction between steroidogenic factor 1 and diacylglycerol kinase theta facilitates induction of CYP17."
    Li D., Urs A.N., Allegood J., Leon A., Merrill A.H. Jr., Sewer M.B.
    Mol. Cell. Biol. 27:6669-6685(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH DGKQ.
  13. "Phosphorylation of steroidogenic factor 1 is mediated by cyclin-dependent kinase 7."
    Lewis A.E., Rusten M., Hoivik E.A., Vikse E.L., Hansson M.L., Wallberg A.E., Bakke M.
    Mol. Endocrinol. 22:91-104(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT SER-203, INTERACTION WITH CDK7.
  14. "SUMOylation inhibits SF-1 activity by reducing CDK7-mediated serine 203 phosphorylation."
    Yang W.-H., Heaton J.H., Brevig H., Mukherjee S., Iniguez-Lluhi J.A., Hammer G.D.
    Mol. Cell. Biol. 29:613-625(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUMOYLATION, PHOSPHORYLATION AT SER-203.
  15. Cited for: X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF 222-461 IN COMPLEX WITH NCOA2 AND PHOSPHOLIPID.
  16. Cited for: X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS) OF 221-461 IN COMPLEX WITH NCOA2 AND PHOSPHOLIPID, MUTAGENESIS OF ALA-269; GLY-341; LEU-344; ALA-433; TYR-436 AND LYS-440.
  17. "A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans."
    Achermann J.C., Ito M., Ito M., Hindmarsh P.C., Jameson J.L.
    Nat. Genet. 22:125-126(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SRXY3 GLU-35.
  18. "Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency."
    Biason-Lauber A., Schoenle E.J.
    Am. J. Hum. Genet. 67:1563-1568(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ACIWOD LEU-255.
  19. "Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner."
    Achermann J.C., Ozisik G., Ito M., Orun U.A., Harmanci K., Gurakan B., Jameson J.L.
    J. Clin. Endocrinol. Metab. 87:1829-1833(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SRXY3 GLN-92.
  20. "Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function."
    Lin L., Philibert P., Ferraz-de-Souza B., Kelberman D., Homfray T., Albanese A., Molini V., Sebire N.J., Einaudi S., Conway G.S., Hughes I.A., Jameson J.L., Sultan C., Dattani M.T., Achermann J.C.
    J. Clin. Endocrinol. Metab. 92:991-999(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS SRXY3 MET-15; ILE-78; SER-91 AND GLN-437.
  21. "Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency."
    Koehler B., Lin L., Ferraz-de-Souza B., Wieacker P., Heidemann P., Schroeder V., Biebermann H., Schnabel D., Grueters A., Achermann J.C.
    Hum. Mutat. 29:59-64(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS SRXY3 SER-33 AND HIS-84, VARIANT ALA-146, CHARACTERIZATION OF VARIANTS SRXY3 SER-33 AND HIS-84.
  22. Cited for: VARIANTS POF7 ALA-123; LEU-129; 231-LEU--LEU-233 DEL AND ASN-293, VARIANT ALA-146, CHARACTERIZATION OF VARIANTS POF7 ALA-123; LEU-129 AND ASN-293.
  23. Cited for: VARIANTS SPGF8 ALA-123; LEU-129; LEU-131; CYS-191; SER-212 AND ASN-238, CHARACTERIZATION OF VARIANTS SPGF8 LEU-131; CYS-191; SER-212 AND ASN-238.

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 26, 2014
This is version 167 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

External Data

Dasty 3