Q13285 (STF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	NR5A1
Synonyms:	AD4BP, FTZF1, SF1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	461 AA.
Sequence status	Complete.
Protein existence	Evidence 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. 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 process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Disease	Disease mutation Premature ovarian failure
Domain	Zinc-finger
Ligand	DNA-binding Lipid-binding Metal-binding Zinc
Molecular function	Activator Receptor
PTM	Acetylation Isopeptide bond Phosphoprotein Ubl conjugation
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	adrenal gland development Inferred from electronic annotation. Source: Compara cell differentiation Inferred from electronic annotation. Source: Compara cell-cell signaling Traceable author statement Ref.17. Source: ProtInc hormone metabolic process Inferred from electronic annotation. Source: Compara luteinization Inferred from electronic annotation. Source: Compara maintenance of protein location in nucleus Inferred from electronic annotation. Source: Compara male gonad development Traceable author statement PubMed 9590178. Source: ProtInc multicellular organismal aging Inferred from electronic annotation. Source: Compara negative regulation of female gonad development Inferred from electronic annotation. Source: Compara 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: Compara transcription initiation from RNA polymerase II promoter Traceable author statement. Source: Reactome
Cellular_component	nucleoplasm Traceable author statement. Source: Reactome
Molecular_function	DNA 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: Compara double-stranded DNA binding Inferred from electronic annotation. Source: Compara 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: Compara 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 key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 461

461

Steroidogenic factor 1

PRO_0000053729

Regions

DNA binding

10 – 85

76

Nuclear receptor

Zinc finger

13 – 33

21

NR C4-type

Zinc finger

49 – 73

25

NR C4-type

Region

230 – 461

232

Important for dimerization

Region

260 – 347

88

Ligand-binding

Sites

Binding site

341

1

Lipid headgroup; via amide nitrogen

Binding site

436

1

Lipid headgroup

Binding site

440

1

Lipid headgroup

Amino acid modifications

Modified residue

34

1

N6-acetyllysine Probable

Modified residue

38

1

N6-acetyllysine Probable

Modified residue

72

1

N6-acetyllysine Probable

Modified residue

203

1

Phosphoserine; by CDK7 Ref.7 Ref.13 Ref.14

Cross-link

119

Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) Ref.10

Cross-link

194

Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) Ref.10

Natural variations

Natural variant

15

1

V → M in SRXY3; without adrenal failure. Ref.20

VAR_063255

Natural variant

33

1

C → S in SRXY3; without adrenal failure; markedly impaired transcriptional activity. Ref.21

VAR_039106

Natural variant

35

1

G → E in SRXY3; with adrenal failure. Ref.17

VAR_004737

Natural variant

78

1

M → I in SRXY3; without adrenal failure. Ref.20

VAR_063256

Natural variant

84

1

R → H in SRXY3; without adrenal failure; markedly impaired transcriptional activity. Ref.21

VAR_039107

Natural variant

91

1

G → S in SRXY3; without adrenal failure. Ref.20

VAR_063257

Natural variant

92

1

R → Q in SRXY3; with adrenal failure. Ref.19

VAR_016982

Natural variant

123

1

G → A in SPGF8 and POF7; activity levels similar to wild-type. Ref.22 Ref.23

VAR_062967

Natural variant

129

1

P → L in SPGF8 and POF7; loss of activity. Ref.22 Ref.23

VAR_062968

Natural variant

131

1

P → L in SPGF8; impairs transactivational activity. Ref.23

VAR_065866

Natural variant

146

1

G → A. Ref.21 Ref.22
Corresponds to variant rs1110061 [ dbSNP | Ensembl ].

VAR_039108

Natural variant

191

1

R → C in SPGF8; impairs transactivational activity. Ref.23

VAR_065867

Natural variant

212

1

G → S in SPGF8; impairs transactivational activity. Ref.23

VAR_065868

Natural variant

231 – 233

3

Missing in POF7.

VAR_062969

Natural variant

238

1

D → N in SPGF8; impairs transactivational activity. Ref.23

VAR_065869

Natural variant

255

1

R → L in ACIWOD. Ref.18

VAR_016983

Natural variant

293

1

D → N in POF7; without adrenal failure; partial loss of activity. Ref.22

VAR_062970

Natural variant

437

1

L → Q in SRXY3; without adrenal failure. Ref.20

VAR_063258

Experimental info

Mutagenesis

119

1

K → R: Loss of sumoylation; when associated with R-194. Ref.10

Mutagenesis

194

1

K → R: Loss of sumoylation. Ref.10

Mutagenesis

269

1

A → F: Strongly reduced transactivation. Ref.16

Mutagenesis

341

1

G → E: Reduced transactivation. Strongly reduced transactivation; when associated with F-344. Ref.16

Mutagenesis

344

1

L → F: Reduced transactivation. Strongly reduced transactivation; when associated with E-341. Ref.16

Mutagenesis

433

1

A → F: Strongly reduced transactivation. Ref.16

Mutagenesis

436

1

Y → F: Loss of transactivation; when associated with A-440. Ref.16

Mutagenesis

440

1

K → A: Loss of transactivation; when associated with F-436. Ref.16

Sequence conflict

63

1

K → N in BAA13546. Ref.2

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

461

Helix Strand Turn

Details...

Helix

225 – 233

9

Helix

239 – 243

5

Helix

262 – 282

21

Helix

286 – 288

3

Helix

291 – 317

27

Beta strand

322 – 324

3

Beta strand

326 – 328

3

Beta strand

330 – 332

3

Helix

333 – 339

7

Helix

342 – 360

19

Helix

365 – 376

12

Helix

381 – 383

3

Helix

387 – 408

22

Beta strand

411 – 413

3

Helix

415 – 442

28

Helix

451 – 456

6

Sequences

	Sequence		Length	Mass (Da)
	Q13285 [UniParc]. Last modified January 1, 1998. Version 2. Checksum: 622644C62794826C	FASTA	461	51,636
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.

IPI

IPI00012446.

PIR

JC4972.

RefSeq

NP_004950.2. NM_004959.4.

UniGene

Hs.495108.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1YOW	X-ray	3.00	A	222-461	[»]
1ZDT	X-ray	2.10	A/B	221-461	[»]

ProteinModelPortal

Q13285.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q13285. 7 interactions.

MINT

MINT-215481.

STRING

9606.ENSP00000362690.

PTM databases

PhosphoSite

Q13285.

Polymorphism databases

DMDM

3121738.

Proteomic databases

PaxDb

Q13285.

PRIDE

Q13285.

Protocols and materials databases

DNASU

2516.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000373588; ENSP00000362690; ENSG00000136931.

GeneID

2516.

KEGG

hsa:2516.

UCSC

uc004boo.1. human.

Organism-specific databases

CTD

2516.

GeneCards

GC09M127243.

HGNC

HGNC:7983. NR5A1.

MIM

184757. gene+phenotype.
612964. phenotype.
612965. phenotype.
613957. phenotype.

neXtProt

NX_Q13285.

Orphanet

243. 46,XX gonadal dysgenesis.
242. 46,XY complete gonadal dysgenesis.
168558. 46,XY disorder of sex development - adrenal insufficiency.
251510. 46,XY partial gonadal dysgenesis.
619. Primary ovarian failure.

PharmGKB

PA31764.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG240365.

HOGENOM

HOG000063718.

HOVERGEN

HBG106677.

InParanoid

Q13285.

KO

K08560.

OMA

PFGLMCK.

OrthoDB

EOG4FJ891.

PhylomeDB

Q13285.

Enzyme and pathway databases

Reactome

REACT_71. Gene Expression.

Gene expression databases

ArrayExpress

Q13285.

Bgee

Q13285.

CleanEx

HS_NR5A1.
HS_SF1.

Genevestigator

Q13285.

GermOnline

ENSG00000136931. Homo sapiens.

Family and domain databases

Gene3D

1.10.565.10. 1 hit.
3.30.50.10. 1 hit.

InterPro

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]

Pfam

PF00104. Hormone_recep. 1 hit.
PF00105. zf-C4. 1 hit.
[Graphical view]

PIRSF

PIRSF002530. Nuc_orph_FTZ-F1. 1 hit.

PRINTS

PR00398. STRDHORMONER.
PR00047. STROIDFINGER.

SMART

SM00430. HOLI. 1 hit.
SM00399. ZnF_C4. 1 hit.
[Graphical view]

SUPFAM

SSF48508. Str_ncl_receptor. 1 hit.

PROSITE

PS00031. NUCLEAR_REC_DBD_1. 1 hit.
PS51030. NUCLEAR_REC_DBD_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

BindingDB

Q13285.

ChEMBL

CHEMBL4666.

EvolutionaryTrace

Q13285.

GenomeRNAi

2516.

NextBio

9909.

SOURCE

Search...

Entry information

Entry name

STF1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 149 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.