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Q13285 (STF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 160. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:NR5A1
Synonyms:AD4BP, FTZF1, SF1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length461 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.11

Subunit structure

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. Ref.9 Ref.11 Ref.12 Ref.13

Subcellular location

Nucleus Ref.8.

Post-translational modification

Acetylation stimulates the transcriptional activity. Ref.8

Sumoylation reduces CDK7-mediated phosophorylation on Ser-203. Ref.10 Ref.14

Phosphorylated on Ser-203 by CDK7. This phosphorylation promotes transcriptional activity. Ref.7 Ref.13 Ref.14

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.17 Ref.19 Ref.20 Ref.21

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.18

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.22

Spermatogenic failure 8 (SPGF8) [MIM:613957]: An infertility disorder characterized by spermatogenesis failure and severe oligozoospermia.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.23

Sequence similarities

Belongs to the nuclear hormone receptor family. NR5 subfamily.

Contains 1 nuclear receptor DNA-binding domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
Premature ovarian failure
   DomainZinc-finger
   LigandDNA-binding
Lipid-binding
Metal-binding
Zinc
   Molecular functionActivator
Receptor
   PTMAcetylation
Isopeptide bond
Phosphoprotein
Ubl conjugation
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processadrenal gland development

Inferred from electronic annotation. Source: Ensembl

cell differentiation

Inferred from electronic annotation. Source: Ensembl

cell-cell signaling

Traceable author statement Ref.17. Source: ProtInc

gene expression

Traceable author statement. Source: Reactome

hormone metabolic process

Inferred from electronic annotation. Source: Ensembl

intracellular receptor signaling pathway

Traceable author statement PubMed 8205615. Source: GOC

luteinization

Inferred from electronic annotation. Source: Ensembl

maintenance of protein location in nucleus

Inferred from electronic annotation. Source: Ensembl

male gonad development

Traceable author statement PubMed 9590178. Source: ProtInc

multicellular organismal aging

Inferred from electronic annotation. Source: Ensembl

negative regulation of female gonad development

Inferred from electronic annotation. Source: Ensembl

positive regulation of male gonad development

Inferred from direct assay PubMed 21412441. Source: UniProtKB

positive regulation of transcription from RNA polymerase II promoter

Inferred from mutant phenotype Ref.12. Source: UniProtKB

primary sex determination

Traceable author statement PubMed 9590178. Source: ProtInc

regulation of steroid biosynthetic process

Traceable author statement PubMed 10567391. Source: UniProtKB

tissue development

Inferred from electronic annotation. Source: Ensembl

transcription initiation from RNA polymerase II promoter

Traceable author statement. Source: Reactome

   Cellular_componentnucleoplasm

Traceable author statement. Source: Reactome

nucleus

Inferred from direct assay PubMed 10567391Ref.12. Source: UniProtKB

   Molecular_functionDNA binding

Inferred from direct assay PubMed 10567391. Source: UniProtKB

RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity

Inferred from direct assay PubMed 21412441. Source: UniProtKB

chromatin binding

Inferred from electronic annotation. Source: Ensembl

double-stranded DNA binding

Inferred from electronic annotation. Source: Ensembl

enzyme binding

Inferred from physical interaction Ref.12. Source: UniProtKB

ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity

Traceable author statement PubMed 8205615. Source: ProtInc

phospholipid binding

Inferred from direct assay Ref.12. Source: UniProtKB

sequence-specific DNA binding

Inferred from electronic annotation. Source: Ensembl

steroid hormone receptor activity

Inferred from electronic annotation. Source: InterPro

transcription coactivator activity

Traceable author statement PubMed 8205615. Source: ProtInc

zinc ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 461461Steroidogenic factor 1
PRO_0000053729

Regions

DNA binding10 – 8576Nuclear receptor
Zinc finger13 – 3321NR C4-type
Zinc finger49 – 7325NR C4-type
Region230 – 461232Important for dimerization
Region260 – 34788Ligand-binding

Sites

Binding site3411Lipid headgroup; via amide nitrogen
Binding site4361Lipid headgroup
Binding site4401Lipid headgroup

Amino acid modifications

Modified residue341N6-acetyllysine Probable
Modified residue381N6-acetyllysine Probable
Modified residue721N6-acetyllysine Probable
Modified residue2031Phosphoserine; by CDK7 Ref.7 Ref.13 Ref.14
Cross-link119Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) Ref.10
Cross-link194Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) Ref.10

Natural variations

Natural variant151V → M in SRXY3; without adrenal failure. Ref.20
VAR_063255
Natural variant331C → S in SRXY3; without adrenal failure; markedly impaired transcriptional activity. Ref.21
VAR_039106
Natural variant351G → E in SRXY3; with adrenal failure. Ref.17
VAR_004737
Natural variant781M → I in SRXY3; without adrenal failure. Ref.20
VAR_063256
Natural variant841R → H in SRXY3; without adrenal failure; markedly impaired transcriptional activity. Ref.21
VAR_039107
Natural variant911G → S in SRXY3; without adrenal failure. Ref.20
VAR_063257
Natural variant921R → Q in SRXY3; with adrenal failure. Ref.19
VAR_016982
Natural variant1231G → A in SPGF8 and POF7; activity levels similar to wild-type. Ref.22 Ref.23
Corresponds to variant rs200163795 [ dbSNP | Ensembl ].
VAR_062967
Natural variant1291P → L in SPGF8 and POF7; loss of activity. Ref.22 Ref.23
Corresponds to variant rs200749741 [ dbSNP | Ensembl ].
VAR_062968
Natural variant1311P → L in SPGF8; impairs transactivational activity. Ref.23
VAR_065866
Natural variant1461G → A. Ref.21 Ref.22
Corresponds to variant rs1110061 [ dbSNP | Ensembl ].
VAR_039108
Natural variant1911R → C in SPGF8; impairs transactivational activity. Ref.23
VAR_065867
Natural variant2121G → S in SPGF8; impairs transactivational activity. Ref.23
Corresponds to variant rs201095702 [ dbSNP | Ensembl ].
VAR_065868
Natural variant231 – 2333Missing in POF7.
VAR_062969
Natural variant2381D → N in SPGF8; impairs transactivational activity. Ref.23
VAR_065869
Natural variant2551R → L in ACIWOD. Ref.18
VAR_016983
Natural variant2931D → N in POF7; without adrenal failure; partial loss of activity. Ref.22
VAR_062970
Natural variant4371L → Q in SRXY3; without adrenal failure. Ref.20
VAR_063258

Experimental info

Mutagenesis1191K → R: Loss of sumoylation; when associated with R-194. Ref.10
Mutagenesis1941K → R: Loss of sumoylation. Ref.10
Mutagenesis2691A → F: Strongly reduced transactivation. Ref.16
Mutagenesis3411G → E: Reduced transactivation. Strongly reduced transactivation; when associated with F-344. Ref.16
Mutagenesis3441L → F: Reduced transactivation. Strongly reduced transactivation; when associated with E-341. Ref.16
Mutagenesis4331A → F: Strongly reduced transactivation. Ref.16
Mutagenesis4361Y → F: Loss of transactivation; when associated with A-440. Ref.16
Mutagenesis4401K → A: Loss of transactivation; when associated with F-436. Ref.16
Sequence conflict631K → N in BAA13546. Ref.2

Secondary structure

................................ 461
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q13285 [UniParc].

Last modified January 1, 1998. Version 2.
Checksum: 622644C62794826C

FASTA46151,636
        10         20         30         40         50         60 
MDYSYDEDLD ELCPVCGDKV SGYHYGLLTC ESCKGFFKRT VQNNKHYTCT ESQSCKIDKT 

        70         80         90        100        110        120 
QRKRCPFCRF QKCLTVGMRL EAVRADRMRG GRNKFGPMYK RDRALKQQKK AQIRANGFKL 

       130        140        150        160        170        180 
ETGPPMGVPP PPPPAPDYVL PPSLHGPEPK GLAAGPPAGP LGDFGAPALP MAVPGAHGPL 

       190        200        210        220        230        240 
AGYLYPAFPG RAIKSEYPEP YASPPQPGLP YGYPEPFSGG PNVPELILQL LQLEPDEDQV 

       250        260        270        280        290        300 
RARILGCLQE PTKSRPDQPA AFGLLCRMAD QTFISIVDWA RRCMVFKELE VADQMTLLQN 

       310        320        330        340        350        360 
CWSELLVFDH IYRQVQHGKE GSILLVTGQE VELTTVATQA GSLLHSLVLR AQELVLQLLA 

       370        380        390        400        410        420 
LQLDRQEFVC LKFIILFSLD LKFLNNHILV KDAQEKANAA LLDYTLCHYP HCGDKFQQLL 

       430        440        450        460 
LCLVEVRALS MQAKEYLYHK HLGNEMPRNN LLIEMLQAKQ T 

« Hide

References

« Hide 'large scale' references
[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]"Structural characterization of human Ad4bp (SF-1) gene."
Oba K., Yanase T., Nomura M., Morohashi K., Takayanagi R., Nawata H.
Biochem. Biophys. Res. Commun. 226:261-267(1996) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1."
Krylova I.N., Sablin E.P., Moore J., Xu R.X., Waitt G.M., MacKay J.A., Juzumiene D., Bynum J.M., Madauss K., Montana V., Lebedeva L., Suzawa M., Williams J.D., Williams S.P., Guy R.K., Thornton J.W., Fletterick R.J., Willson T.M., Ingraham H.A.
Cell 120:343-355(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF 222-461 IN COMPLEX WITH NCOA2 AND PHOSPHOLIPID.
[16]"The crystal structures of human steroidogenic factor-1 and liver receptor homologue-1."
Wang W., Zhang C., Marimuthu A., Krupka H.I., Tabrizizad M., Shelloe R., Mehra U., Eng K., Nguyen H., Settachatgul C., Powell B., Milburn M.V., West B.L.
Proc. Natl. Acad. Sci. U.S.A. 102:7505-7510(2005) [PubMed] [Europe PMC] [Abstract]
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]"Mutations in NR5A1 associated with ovarian insufficiency."
Lourenco D., Brauner R., Lin L., De Perdigo A., Weryha G., Muresan M., Boudjenah R., Guerra-Junior G., Maciel-Guerra A.T., Achermann J.C., McElreavey K., Bashamboo A.
N. Engl. J. Med. 360:1200-1210(2009) [PubMed] [Europe PMC] [Abstract]
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]"Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1."
Bashamboo A., Ferraz-de-Souza B., Lourenco D., Lin L., Sebire N.J., Montjean D., Bignon-Topalovic J., Mandelbaum J., Siffroi J.P., Christin-Maitre S., Radhakrishna U., Rouba H., Ravel C., Seeler J., Achermann J.C., McElreavey K.
Am. J. Hum. Genet. 87:505-512(2010) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRJC4972.
RefSeqNP_004950.2. NM_004959.4.
XP_005251928.1. XM_005251871.2.
UniGeneHs.495108.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1YOWX-ray3.00A222-461[»]
1ZDTX-ray2.10A/B221-461[»]
ProteinModelPortalQ13285.
SMRQ13285. Positions 10-459.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108792. 24 interactions.
IntActQ13285. 8 interactions.
MINTMINT-215481.
STRING9606.ENSP00000362690.

Chemistry

BindingDBQ13285.
ChEMBLCHEMBL4666.

PTM databases

PhosphoSiteQ13285.

Polymorphism databases

DMDM3121738.

Proteomic databases

PaxDbQ13285.
PRIDEQ13285.

Protocols and materials databases

DNASU2516.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000373588; ENSP00000362690; ENSG00000136931.
GeneID2516.
KEGGhsa:2516.
UCSCuc004boo.1. human.

Organism-specific databases

CTD2516.
GeneCardsGC09M127243.
HGNCHGNC:7983. NR5A1.
MIM184757. gene+phenotype.
612964. phenotype.
612965. phenotype.
613957. phenotype.
neXtProtNX_Q13285.
Orphanet243. 46,XX gonadal dysgenesis.
242. 46,XY complete gonadal dysgenesis.
251510. 46,XY partial gonadal dysgenesis.
619. Primary ovarian failure.
PharmGKBPA31764.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG240365.
HOGENOMHOG000063718.
HOVERGENHBG106677.
InParanoidQ13285.
KOK08560.
OMACLQEPAK.
OrthoDBEOG7BS4B9.
PhylomeDBQ13285.
TreeFamTF350737.

Enzyme and pathway databases

ReactomeREACT_71. Gene Expression.
SignaLinkQ13285.

Gene expression databases

ArrayExpressQ13285.
BgeeQ13285.
CleanExHS_NR5A1.
HS_SF1.
GenevestigatorQ13285.

Family and domain databases

Gene3D1.10.565.10. 1 hit.
3.30.50.10. 1 hit.
InterProIPR008946. 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]
PfamPF00104. Hormone_recep. 1 hit.
PF00105. zf-C4. 1 hit.
[Graphical view]
PIRSFPIRSF002530. Nuc_orph_FTZ-F1. 1 hit.
PRINTSPR00398. STRDHORMONER.
PR00047. STROIDFINGER.
SMARTSM00430. HOLI. 1 hit.
SM00399. ZnF_C4. 1 hit.
[Graphical view]
SUPFAMSSF48508. SSF48508. 2 hits.
PROSITEPS00031. NUCLEAR_REC_DBD_1. 1 hit.
PS51030. NUCLEAR_REC_DBD_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ13285.
GeneWikiSteroidogenic_factor_1.
GenomeRNAi2516.
NextBio9909.
PROQ13285.
SOURCESearch...

Entry information

Entry nameSTF1_HUMAN
AccessionPrimary (citable) accession number: Q13285
Secondary accession number(s): O15196, Q5T6F5
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 1, 1998
Last modified: April 16, 2014
This is version 160 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM