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Q13285

- STF1_HUMAN

UniProt

Q13285 - STF1_HUMAN

Protein

Steroidogenic factor 1

Gene

NR5A1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 165 (01 Oct 2014)
      Sequence version 2 (01 Jan 1998)
      Previous versions | rss
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    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. protein binding Source: UniProtKB
    8. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: UniProtKB
    9. sequence-specific DNA binding Source: Ensembl
    10. steroid hormone receptor activity Source: InterPro
    11. transcription coactivator activity Source: ProtInc
    12. 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

    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

    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.
    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.
    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

    ArrayExpressiQ13285.
    BgeeiQ13285.
    CleanExiHS_NR5A1.
    HS_SF1.
    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 – 2339
    Helixi239 – 2435
    Helixi262 – 28221
    Helixi286 – 2883
    Helixi291 – 31727
    Beta strandi322 – 3243
    Beta strandi326 – 3283
    Beta strandi330 – 3323
    Helixi333 – 3397
    Helixi342 – 36019
    Helixi365 – 37612
    Helixi381 – 3833
    Helixi387 – 40822
    Beta strandi411 – 4133
    Helixi415 – 44228
    Helixi451 – 4566

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1YOWX-ray3.00A222-461[»]
    1ZDTX-ray2.10A/B221-461[»]
    ProteinModelPortaliQ13285.
    SMRiQ13285. Positions 10-459.
    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.
    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

    MDYSYDEDLD ELCPVCGDKV SGYHYGLLTC ESCKGFFKRT VQNNKHYTCT    50
    ESQSCKIDKT QRKRCPFCRF QKCLTVGMRL EAVRADRMRG GRNKFGPMYK 100
    RDRALKQQKK AQIRANGFKL ETGPPMGVPP PPPPAPDYVL PPSLHGPEPK 150
    GLAAGPPAGP LGDFGAPALP MAVPGAHGPL AGYLYPAFPG RAIKSEYPEP 200
    YASPPQPGLP YGYPEPFSGG PNVPELILQL LQLEPDEDQV RARILGCLQE 250
    PTKSRPDQPA AFGLLCRMAD QTFISIVDWA RRCMVFKELE VADQMTLLQN 300
    CWSELLVFDH IYRQVQHGKE GSILLVTGQE VELTTVATQA GSLLHSLVLR 350
    AQELVLQLLA LQLDRQEFVC LKFIILFSLD LKFLNNHILV KDAQEKANAA 400
    LLDYTLCHYP HCGDKFQQLL LCLVEVRALS MQAKEYLYHK HLGNEMPRNN 450
    LLIEMLQAKQ T 461
    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.
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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:
    PDBe
    RCSB PDB
    PDBj
    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 [» ]
    ProteinModelPortali Q13285.
    SMRi Q13285. Positions 10-459.
    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.
    619. Primary ovarian failure.
    PharmGKBi PA31764.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG240365.
    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

    ArrayExpressi Q13285.
    Bgeei Q13285.
    CleanExi HS_NR5A1.
    HS_SF1.
    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

    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: October 1, 2014
    This is version 165 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