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Steroidogenic factor 1 (SF-1) (STF-1) (hSF-1) (Adrenal 4-binding protein) (Fushi tarazu factor homolog 1) (Nuclear receptor subfamily 5 group A member 1) (Steroid hormone receptor Ad4BP)

 STF1_HUMAN              Reviewed;         461 AA.
Q13285; O15196; Q5T6F5;
15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
01-JAN-1998, sequence version 2.
29-SEP-2021, entry version 228.
RecName: Full=Steroidogenic factor 1;
Short=SF-1;
Short=STF-1;
Short=hSF-1 {ECO:0000303|PubMed:8938589};
AltName: Full=Adrenal 4-binding protein;
AltName: Full=Fushi tarazu factor homolog 1;
AltName: Full=Nuclear receptor subfamily 5 group A member 1;
AltName: Full=Steroid hormone receptor Ad4BP;
Name=NR5A1; Synonyms=AD4BP, FTZF1, SF1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=8806624; DOI=10.1006/bbrc.1996.1343;
Oba K., Yanase T., Nomura M., Morohashi K., Takayanagi R., Nawata H.;
"Structural characterization of human Ad4bp (SF-1) gene.";
Biochem. Biophys. Res. Commun. 226:261-267(1996).
[2]
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=8938589; DOI=10.1677/jme.0.0170139;
Wong M., Ramayya M.S., Chrousos G.P., Driggers P.H., Parker K.L.;
"Cloning and sequence analysis of the human gene encoding steroidogenic
factor 1.";
J. Mol. Endocrinol. 17:139-147(1996).
[3]
NUCLEOTIDE SEQUENCE [MRNA].
Santa Barbara P., Desclozeaux M., Boizet B., Bonneaud N., Laudet V.,
Poulat F., Berta P.;
"Cloning and characterization of the human steroidogenic factor 1 (SF-1)
cDNA.";
Submitted (APR-1997) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15164053; DOI=10.1038/nature02465;
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.;
"DNA sequence and analysis of human chromosome 9.";
Nature 429:369-374(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Pancreas, and Spleen;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project:
the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 20-75.
Yeh J.R., Chung B.C.;
"Human SF1 genomic segment.";
Submitted (JUL-1995) to the EMBL/GenBank/DDBJ databases.
[8]
TISSUE SPECIFICITY.
PubMed=9177385; DOI=10.1210/jcem.82.6.3967;
Ramayya M.S., Zhou J., Kino T., Segars J.H., Bondy C.A., Chrousos G.P.;
"Steroidogenic factor 1 messenger ribonucleic acid expression in
steroidogenic and nonsteroidogenic human tissues: Northern blot and in situ
hybridization studies.";
J. Clin. Endocrinol. Metab. 82:1799-1806(1997).
[9]
PHOSPHORYLATION AT SER-203.
PubMed=10230405; DOI=10.1016/s1097-2765(00)80480-3;
Hammer G.D., Krylova I., Zhang Y., Darimont B.D., Simpson K., Weigel N.L.,
Ingraham H.A.;
"Phosphorylation of the nuclear receptor SF-1 modulates cofactor
recruitment: integration of hormone signaling in reproduction and stress.";
Mol. Cell 3:521-526(1999).
[10]
ACETYLATION AT LYS-34; LYS-38 AND LYS-72, AND SUBCELLULAR LOCATION.
PubMed=11479297; DOI=10.1074/jbc.m104427200;
Jacob A.L., Lund J., Martinez P., Hedin L.;
"Acetylation of steroidogenic factor 1 protein regulates its
transcriptional activity and recruits the coactivator GCN5.";
J. Biol. Chem. 276:37659-37664(2001).
[11]
INTERACTION WITH SFPQ, AND IDENTIFICATION IN A COMPLEX WITH SFPQ AND NONO.
PubMed=11897684; DOI=10.1210/endo.143.4.8748;
Sewer M.B., Nguyen V.Q., Huang C.J., Tucker P.W., Kagawa N., Waterman M.R.;
"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.";
Endocrinology 143:1280-1290(2002).
[12]
SUMOYLATION AT LYS-119 AND LYS-194, AND MUTAGENESIS OF LYS-119 AND LYS-194.
PubMed=15192080; DOI=10.1210/me.2004-0173;
Komatsu T., Mizusaki H., Mukai T., Ogawa H., Baba D., Shirakawa M.,
Hatakeyama S., Nakayama K.I., Yamamoto H., Kikuchi A., Morohashi K.;
"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.";
Mol. Endocrinol. 18:2451-2462(2004).
[13]
FUNCTION, AND INTERACTION WITH HIPK3.
PubMed=17210646; DOI=10.1128/mcb.02253-06;
Lan H.-C., Li H.-J., Lin G., Lai P.-Y., Chung B.-C.;
"Cyclic AMP stimulates SF-1-dependent CYP11A1 expression through
homeodomain-interacting protein kinase 3-mediated Jun N-terminal kinase and
c-Jun phosphorylation.";
Mol. Cell. Biol. 27:2027-2036(2007).
[14]
INTERACTION WITH DGKQ.
PubMed=17664281; DOI=10.1128/mcb.00355-07;
Li D., Urs A.N., Allegood J., Leon A., Merrill A.H. Jr., Sewer M.B.;
"Cyclic AMP-stimulated interaction between steroidogenic factor 1 and
diacylglycerol kinase theta facilitates induction of CYP17.";
Mol. Cell. Biol. 27:6669-6685(2007).
[15]
PHOSPHORYLATION AT SER-203, AND INTERACTION WITH CDK7.
PubMed=17901130; DOI=10.1210/me.2006-0478;
Lewis A.E., Rusten M., Hoivik E.A., Vikse E.L., Hansson M.L.,
Wallberg A.E., Bakke M.;
"Phosphorylation of steroidogenic factor 1 is mediated by cyclin-dependent
kinase 7.";
Mol. Endocrinol. 22:91-104(2008).
[16]
SUMOYLATION, AND PHOSPHORYLATION AT SER-203.
PubMed=19015234; DOI=10.1128/mcb.00295-08;
Yang W.-H., Heaton J.H., Brevig H., Mukherjee S., Iniguez-Lluhi J.A.,
Hammer G.D.;
"SUMOylation inhibits SF-1 activity by reducing CDK7-mediated serine 203
phosphorylation.";
Mol. Cell. Biol. 29:613-625(2009).
[17]
X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF 222-461 IN COMPLEX WITH NCOA2 AND
PHOSPHOLIPID.
PubMed=15707893; DOI=10.1016/j.cell.2005.01.024;
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.;
"Structural analyses reveal phosphatidyl inositols as ligands for the NR5
orphan receptors SF-1 and LRH-1.";
Cell 120:343-355(2005).
[18] {ECO:0007744|PDB:1ZDT}
X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS) OF 221-461 IN COMPLEX WITH NCOA2 AND
A PHOSPHATIDYLETHANOLAMINE, AND MUTAGENESIS OF ALA-269; GLY-341; LEU-344;
ALA-433; TYR-436 AND LYS-440.
PubMed=15897460; DOI=10.1073/pnas.0409482102;
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.;
"The crystal structures of human steroidogenic factor-1 and liver receptor
homologue-1.";
Proc. Natl. Acad. Sci. U.S.A. 102:7505-7510(2005).
[19]
VARIANT SRXY3 GLU-35.
PubMed=10369247; DOI=10.1038/9629;
Achermann J.C., Ito M., Ito M., Hindmarsh P.C., Jameson J.L.;
"A mutation in the gene encoding steroidogenic factor-1 causes XY sex
reversal and adrenal failure in humans.";
Nat. Genet. 22:125-126(1999).
[20]
VARIANT AINR LEU-255.
PubMed=11038323; DOI=10.1086/316893;
Biason-Lauber A., Schoenle E.J.;
"Apparently normal ovarian differentiation in a prepubertal girl with
transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and
adrenocortical insufficiency.";
Am. J. Hum. Genet. 67:1563-1568(2000).
[21]
VARIANT SRXY3 GLN-92.
PubMed=11932325; DOI=10.1210/jcem.87.4.8376;
Achermann J.C., Ozisik G., Ito M., Orun U.A., Harmanci K., Gurakan B.,
Jameson J.L.;
"Gonadal determination and adrenal development are regulated by the orphan
nuclear receptor steroidogenic factor-1, in a dose-dependent manner.";
J. Clin. Endocrinol. Metab. 87:1829-1833(2002).
[22]
VARIANTS SRXY3 MET-15; ILE-78; SER-91 AND GLN-437.
PubMed=17200175; DOI=10.1210/jc.2006-1672;
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.;
"Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP,
NR5A1) are associated with 46,XY disorders of sex development with normal
adrenal function.";
J. Clin. Endocrinol. Metab. 92:991-999(2007).
[23]
VARIANTS SRXY3 SER-33 AND HIS-84, VARIANT ALA-146, AND CHARACTERIZATION OF
VARIANTS SRXY3 SER-33 AND HIS-84.
PubMed=17694559; DOI=10.1002/humu.20588;
Koehler B., Lin L., Ferraz-de-Souza B., Wieacker P., Heidemann P.,
Schroeder V., Biebermann H., Schnabel D., Grueters A., Achermann J.C.;
"Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY
patients with severe underandrogenization but without adrenal
insufficiency.";
Hum. Mutat. 29:59-64(2008).
[24]
VARIANTS POF7 ALA-123; LEU-129; 231-LEU--LEU-233 DEL AND ASN-293, VARIANT
ALA-146, AND CHARACTERIZATION OF VARIANTS POF7 ALA-123; LEU-129 AND
ASN-293.
PubMed=19246354; DOI=10.1056/nejmoa0806228;
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.;
"Mutations in NR5A1 associated with ovarian insufficiency.";
N. Engl. J. Med. 360:1200-1210(2009).
[25]
VARIANTS SPGF8 ALA-123; LEU-129; LEU-131; CYS-191; SER-212 AND ASN-238, AND
CHARACTERIZATION OF VARIANTS SPGF8 LEU-131; CYS-191; SER-212 AND ASN-238.
PubMed=20887963; DOI=10.1016/j.ajhg.2010.09.009;
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.;
"Human male infertility associated with mutations in NR5A1 encoding
steroidogenic factor 1.";
Am. J. Hum. Genet. 87:505-512(2010).
[26]
VARIANT SRXY3 TYR-65.
PubMed=24405868; DOI=10.1186/1471-2350-15-7;
Fabbri H.C., de Andrade J.G., Soardi F.C., de Calais F.L., Petroli R.J.,
Maciel-Guerra A.T., Guerra-Junior G., de Mello M.P.;
"The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with
normal testosterone levels and their mother with primary ovarian
insufficiency.";
BMC Med. Genet. 15:7-7(2014).
[27]
VARIANT AINR GLN-92.
PubMed=26523528; DOI=10.1210/jc.2015-3250;
Guran T., Buonocore F., Saka N., Ozbek M.N., Aycan Z., Bereket A., Bas F.,
Darcan S., Bideci A., Guven A., Demir K., Akinci A., Buyukinan M.,
Aydin B.K., Turan S., Agladioglu S.Y., Atay Z., Abali Z.Y., Tarim O.,
Catli G., Yuksel B., Akcay T., Yildiz M., Ozen S., Doger E., Demirbilek H.,
Ucar A., Isik E., Ozhan B., Bolu S., Ozgen I.T., Suntharalingham J.P.,
Achermann J.C.;
"Rare causes of primary adrenal insufficiency: genetic and clinical
characterization of a large nationwide cohort.";
J. Clin. Endocrinol. Metab. 101:284-292(2016).
[28]
VARIANT SRXX4 TRP-92, CHARACTERIZATION OF VARIANT SRXX4 TRP-92, INVOLVEMENT
IN SRXX4, CHARACTERIZATION OF VARIANT SRXY3 GLN-92, AND SUBCELLULAR
LOCATION.
PubMed=27490115; DOI=10.1038/gim.2016.118;
Baetens D., Stoop H., Peelman F., Todeschini A.L., Rosseel T.,
Coppieters F., Veitia R.A., Looijenga L.H., De Baere E., Cools M.;
"NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular
disorders of sex development.";
Genet. Med. 19:367-376(2017).
[29]
INVOLVEMENT IN SRXX4, AND VARIANT SRXX4 GLN-92.
PubMed=27855412; DOI=10.1159/000452888;
Swartz J.M., Ciarlo R., Guo M.H., Abrha A., Weaver B., Diamond D.A.,
Chan Y.M., Hirschhorn J.N.;
"A 46,XX ovotesticular disorder of sex development likely caused by a
steroidogenic factor-1 (NR5A1) variant.";
Horm. Res. Paediatr. 87:191-195(2017).
[30]
INVOLVEMENT IN SRXX4, INVOLVEMENT IN SRXY3, VARIANT SRXX4 TRP-92, VARIANT
SRXY3 TRP-92, CHARACTERIZATION OF VARIANT SRXX4 TRP-92, AND FUNCTION.
PubMed=27378692; DOI=10.1093/hmg/ddw186;
Members of UDN;
Bashamboo A., Donohoue P.A., Vilain E., Rojo S., Calvel P.,
Seneviratne S.N., Buonocore F., Barseghyan H., Bingham N., Rosenfeld J.A.,
Mulukutla S.N., Jain M., Burrage L., Dhar S., Balasubramanyam A., Lee B.,
Dumargne M.C., Eozenou C., Suntharalingham J.P., de Silva K., Lin L.,
Bignon-Topalovic J., Poulat F., Lagos C.F., McElreavey K., Achermann J.C.;
"A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act
as a molecular switch in human sex development.";
Hum. Mol. Genet. 25:3446-3453(2016).
[31]
VARIANT SRXX4 TRP-92, CHARACTERIZATION OF VARIANT SRXX4 TRP-92, AND
INVOLVEMENT IN SRXX4.
PubMed=27610946; DOI=10.1002/humu.23116;
Igarashi M., Takasawa K., Hakoda A., Kanno J., Takada S., Miyado M.,
Baba T., Morohashi K.I., Tajima T., Hata K., Nakabayashi K., Matsubara Y.,
Sekido R., Ogata T., Kashimada K., Fukami M.;
"Identical NR5A1 missense mutations in two unrelated 46,XX individuals with
testicular tissues.";
Hum. Mutat. 38:39-42(2017).
[32]
VARIANTS SRXY3 18-ASP--GLY-22 DEL AND PRO-40, CHARACTERIZATION OF VARIANTS
SRXY3 18-ASP--GLY-22 DEL AND PRO-40, AND FUNCTION.
PubMed=28459839; DOI=10.1371/journal.pone.0176720;
Werner R., Moenig I., Luenstedt R., Wuensch L., Thorns C., Reiz B.,
Krause A., Schwab K.O., Binder G., Holterhus P.M., Hiort O.;
"New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.";
PLoS ONE 12:E0176720-E0176720(2017).
-!- FUNCTION: Transcriptional activator. Essential for sexual
differentiation and formation of the primary steroidogenic tissues
(PubMed:27378692). 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 (PubMed:27378692). The
SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal
and cAMP-dependent transcriptional activity. 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.
{ECO:0000250|UniProtKB:P33242, ECO:0000269|PubMed:17210646,
ECO:0000269|PubMed:27378692, ECO:0000269|PubMed:28459839}.
-!- SUBUNIT: 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. {ECO:0000250|UniProtKB:P33242,
ECO:0000269|PubMed:11897684, ECO:0000269|PubMed:15707893,
ECO:0000269|PubMed:15897460, ECO:0000269|PubMed:17210646,
ECO:0000269|PubMed:17664281, ECO:0000269|PubMed:17901130}.
-!- INTERACTION:
Q13285; Q53TS8: C2CD6; NbExp=3; IntAct=EBI-874629, EBI-739879;
Q13285; P61024: CKS1B; NbExp=3; IntAct=EBI-874629, EBI-456371;
Q13285; O43639: NCK2; NbExp=3; IntAct=EBI-874629, EBI-713635;
Q13285; P51843: NR0B1; NbExp=9; IntAct=EBI-874629, EBI-946109;
Q13285; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-874629, EBI-741158;
Q13285; P40937: RFC5; NbExp=3; IntAct=EBI-874629, EBI-712376;
Q13285; Q8WW24: TEKT4; NbExp=3; IntAct=EBI-874629, EBI-750487;
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00407,
ECO:0000269|PubMed:11479297, ECO:0000269|PubMed:27490115}.
-!- TISSUE SPECIFICITY: High expressed in the adrenal cortex, the ovary,
the testis, and the spleen (PubMed:9177385).
{ECO:0000269|PubMed:9177385}.
-!- PTM: Acetylation stimulates the transcriptional activity.
{ECO:0000269|PubMed:11479297}.
-!- PTM: Sumoylation reduces CDK7-mediated phosphorylation on Ser-203.
{ECO:0000269|PubMed:15192080, ECO:0000269|PubMed:19015234}.
-!- PTM: Phosphorylated on Ser-203 by CDK7. This phosphorylation promotes
transcriptional activity. {ECO:0000269|PubMed:10230405,
ECO:0000269|PubMed:17901130, ECO:0000269|PubMed:19015234}.
-!- 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. {ECO:0000269|PubMed:10369247,
ECO:0000269|PubMed:11932325, ECO:0000269|PubMed:17200175,
ECO:0000269|PubMed:17694559, ECO:0000269|PubMed:24405868,
ECO:0000269|PubMed:27378692, ECO:0000269|PubMed:27490115,
ECO:0000269|PubMed:28459839}. Note=The disease is caused by variants
affecting the gene represented in this entry.
-!- DISEASE: 46,XX sex reversal 4 (SRXX4) [MIM:617480]: A condition in
which male gonads develop in a genetic female (female to male sex
reversal). {ECO:0000269|PubMed:27378692, ECO:0000269|PubMed:27490115,
ECO:0000269|PubMed:27610946, ECO:0000269|PubMed:27855412}. Note=The
disease is caused by variants affecting the gene represented in this
entry.
-!- DISEASE: Adrenal insufficiency, NR5A1-related (AINR) [MIM:612964]: A
disorder characterized by adrenal insufficiency, muscular hypotonia,
decreased sodium and increased potassium levels, elevated ACTH, salt-
wasting crisis, prolonged jaundice, hypoglycemia, and vomiting.
{ECO:0000269|PubMed:11038323, ECO:0000269|PubMed:26523528}. Note=The
disease is caused by variants affecting the gene represented in this
entry.
-!- DISEASE: 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.
{ECO:0000269|PubMed:19246354}. Note=The disease is caused by variants
affecting the gene represented in this entry.
-!- DISEASE: Spermatogenic failure 8 (SPGF8) [MIM:613957]: An infertility
disorder characterized by spermatogenesis failure and severe
oligozoospermia. {ECO:0000269|PubMed:20887963}. Note=The disease is
caused by variants affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the nuclear hormone receptor family. NR5
subfamily. {ECO:0000305}.
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EMBL; D88155; BAA13546.1; -; Genomic_DNA.
EMBL; U76388; AAB53105.1; -; mRNA.
EMBL; AL137846; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL354979; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471090; EAW87591.1; -; Genomic_DNA.
EMBL; BC032501; AAH32501.1; -; mRNA.
EMBL; U32592; AAA75332.1; -; Genomic_DNA.
CCDS; CCDS6856.1; -.
PIR; JC4972; JC4972.
RefSeq; NP_004950.2; NM_004959.4.
RefSeq; XP_005251928.1; XM_005251871.3.
RefSeq; XP_011516757.1; XM_011518455.2.
PDB; 1YOW; X-ray; 3.00 A; A=222-461.
PDB; 1ZDT; X-ray; 2.10 A; A/B=221-461.
PDB; 4QJR; X-ray; 2.40 A; A=218-461.
PDB; 4QK4; X-ray; 2.81 A; A=218-461.
PDB; 7KHT; X-ray; 2.50 A; A=218-461.
PDBsum; 1YOW; -.
PDBsum; 1ZDT; -.
PDBsum; 4QJR; -.
PDBsum; 4QK4; -.
PDBsum; 7KHT; -.
SMR; Q13285; -.
BioGRID; 108792; 38.
CORUM; Q13285; -.
IntAct; Q13285; 42.
STRING; 9606.ENSP00000362690; -.
BindingDB; Q13285; -.
ChEMBL; CHEMBL4666; -.
DrugBank; DB04683; (2R)-3-{[{[(2S)-2,3-DIHYDROXYPROPYL]OXY}(HYDROXY)PHOSPHORYL]OXY}-2-[(9E)-HEXADEC-9-ENOYLOXY]PROPYL (9E)-OCTADEC-9-ENOATE.
DrugBank; DB04752; Phosphatidyl ethanol.
GuidetoPHARMACOLOGY; 632; -.
iPTMnet; Q13285; -.
PhosphoSitePlus; Q13285; -.
BioMuta; NR5A1; -.
DMDM; 3121738; -.
MassIVE; Q13285; -.
PaxDb; Q13285; -.
PeptideAtlas; Q13285; -.
PRIDE; Q13285; -.
ProteomicsDB; 59276; -.
Antibodypedia; 16333; 421 antibodies.
DNASU; 2516; -.
Ensembl; ENST00000373588; ENSP00000362690; ENSG00000136931.
GeneID; 2516; -.
KEGG; hsa:2516; -.
UCSC; uc004boo.2; human.
CTD; 2516; -.
DisGeNET; 2516; -.
GeneCards; NR5A1; -.
GeneReviews; NR5A1; -.
HGNC; HGNC:7983; NR5A1.
HPA; ENSG00000136931; Tissue enhanced (adrenal gland, lymphoid tissue).
MalaCards; NR5A1; -.
MIM; 184757; gene.
MIM; 612964; phenotype.
MIM; 612965; phenotype.
MIM; 613957; phenotype.
MIM; 617480; phenotype.
neXtProt; NX_Q13285; -.
OpenTargets; ENSG00000136931; -.
Orphanet; 243; 46,XX gonadal dysgenesis.
Orphanet; 2138; 46,XX ovotesticular disorder of sex development.
Orphanet; 393; 46,XX testicular disorder of sex development.
Orphanet; 242; 46,XY complete gonadal dysgenesis.
Orphanet; 251510; 46,XY partial gonadal dysgenesis.
Orphanet; 399805; Male infertility with azoospermia or oligozoospermia due to single gene mutation.
Orphanet; 619; NON RARE IN EUROPE: Primary ovarian failure.
PharmGKB; PA31764; -.
VEuPathDB; HostDB:ENSG00000136931; -.
eggNOG; KOG4218; Eukaryota.
GeneTree; ENSGT00940000153391; -.
HOGENOM; CLU_011437_0_0_1; -.
InParanoid; Q13285; -.
OMA; KAECPDY; -.
OrthoDB; 619653at2759; -.
PhylomeDB; Q13285; -.
TreeFam; TF350737; -.
PathwayCommons; Q13285; -.
Reactome; R-HSA-383280; Nuclear Receptor transcription pathway.
Reactome; R-HSA-4090294; SUMOylation of intracellular receptors.
Reactome; R-HSA-452723; Transcriptional regulation of pluripotent stem cells.
Reactome; R-HSA-9690406; Transcriptional regulation of testis differentiation.
SignaLink; Q13285; -.
SIGNOR; Q13285; -.
BioGRID-ORCS; 2516; 16 hits in 1035 CRISPR screens.
EvolutionaryTrace; Q13285; -.
GeneWiki; Steroidogenic_factor_1; -.
GenomeRNAi; 2516; -.
Pharos; Q13285; Tchem.
PRO; PR:Q13285; -.
Proteomes; UP000005640; Chromosome 9.
RNAct; Q13285; protein.
Bgee; ENSG00000136931; Expressed in right adrenal gland cortex and 75 other tissues.
ExpressionAtlas; Q13285; baseline and differential.
Genevisible; Q13285; HS.
GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
GO; GO:0005829; C:cytosol; IDA:HPA.
GO; GO:0005654; C:nucleoplasm; IDA:HPA.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0090575; C:RNA polymerase II transcription regulator complex; ISS:BHF-UCL.
GO; GO:0003682; F:chromatin binding; ISS:BHF-UCL.
GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IDA:UniProtKB.
GO; GO:0019899; F:enzyme binding; IPI:UniProtKB.
GO; GO:0004879; F:nuclear receptor activity; IDA:ParkinsonsUK-UCL.
GO; GO:0005543; F:phospholipid binding; IDA:UniProtKB.
GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; ISS:BHF-UCL.
GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IDA:ParkinsonsUK-UCL.
GO; GO:0043565; F:sequence-specific DNA binding; IDA:UniProtKB.
GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
GO; GO:0030325; P:adrenal gland development; IEA:Ensembl.
GO; GO:0097720; P:calcineurin-mediated signaling; IEA:Ensembl.
GO; GO:0030154; P:cell differentiation; IEA:Ensembl.
GO; GO:0008585; P:female gonad development; IMP:UniProtKB.
GO; GO:0042445; P:hormone metabolic process; IEA:Ensembl.
GO; GO:0009755; P:hormone-mediated signaling pathway; IBA:GO_Central.
GO; GO:0001553; P:luteinization; IEA:Ensembl.
GO; GO:0051457; P:maintenance of protein location in nucleus; IEA:Ensembl.
GO; GO:0008584; P:male gonad development; IMP:UniProtKB.
GO; GO:0030238; P:male sex determination; IMP:BHF-UCL.
GO; GO:0010259; P:multicellular organism aging; IEA:Ensembl.
GO; GO:2000195; P:negative regulation of female gonad development; IEA:Ensembl.
GO; GO:0010628; P:positive regulation of gene expression; IDA:UniProtKB.
GO; GO:2000020; P:positive regulation of male gonad development; IDA:UniProtKB.
GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IMP:UniProtKB.
GO; GO:0007538; P:primary sex determination; TAS:ProtInc.
GO; GO:0050810; P:regulation of steroid biosynthetic process; TAS:UniProtKB.
GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
GO; GO:0097210; P:response to gonadotropin-releasing hormone; IEA:Ensembl.
GO; GO:0007530; P:sex determination; IMP:UniProtKB.
GO; GO:0009888; P:tissue development; IBA:GO_Central.
GO; GO:0006366; P:transcription by RNA polymerase II; IEA:Ensembl.
Gene3D; 1.10.565.10; -; 1.
Gene3D; 3.30.50.10; -; 1.
IDEAL; IID00072; -.
InterPro; IPR035500; NHR-like_dom_sf.
InterPro; IPR016355; NR5_fam.
InterPro; IPR000536; Nucl_hrmn_rcpt_lig-bd.
InterPro; IPR001723; Nuclear_hrmn_rcpt.
InterPro; IPR001628; Znf_hrmn_rcpt.
InterPro; IPR013088; Znf_NHR/GATA.
PANTHER; PTHR24086; PTHR24086; 1.
Pfam; PF00104; Hormone_recep; 1.
Pfam; PF00105; zf-C4; 1.
PIRSF; PIRSF002530; Nuc_orph_FTZ-F1; 1.
PRINTS; PR00398; STRDHORMONER.
PRINTS; PR00047; STROIDFINGER.
SMART; SM00430; HOLI; 1.
SMART; SM00399; ZnF_C4; 1.
SUPFAM; SSF48508; SSF48508; 1.
PROSITE; PS51843; NR_LBD; 1.
PROSITE; PS00031; NUCLEAR_REC_DBD_1; 1.
PROSITE; PS51030; NUCLEAR_REC_DBD_2; 1.
1: Evidence at protein level;
3D-structure; Acetylation; Activator; Disease variant; DNA-binding;
Isopeptide bond; Lipid-binding; Metal-binding; Nucleus; Phosphoprotein;
Premature ovarian failure; Receptor; Reference proteome; Transcription;
Transcription regulation; Ubl conjugation; Zinc; Zinc-finger.
CHAIN 1..461
/note="Steroidogenic factor 1"
/id="PRO_0000053729"
DOMAIN 222..459
/note="NR LBD"
/evidence="ECO:0000255|PROSITE-ProRule:PRU01189"
DNA_BIND 10..85
/note="Nuclear receptor"
/evidence="ECO:0000255|PROSITE-ProRule:PRU00407"
ZN_FING 13..33
/note="NR C4-type"
/evidence="ECO:0000255|PROSITE-ProRule:PRU00407"
ZN_FING 49..73
/note="NR C4-type"
/evidence="ECO:0000255|PROSITE-ProRule:PRU00407"
REGION 119..157
/note="Disordered"
/evidence="ECO:0000256|SAM:MobiDB-lite"
REGION 230..461
/note="Important for dimerization"
COMPBIAS 124..143
/note="Pro residues"
/evidence="ECO:0000256|SAM:MobiDB-lite"
BINDING 341
/note="Phosphatidylcholine; via amide nitrogen"
/evidence="ECO:0000250|UniProtKB:P33242"
BINDING 341
/note="Phosphatidylethanolamine; via amide nitrogen"
/evidence="ECO:0000269|PubMed:15897460"
BINDING 436
/note="Phosphatidylcholine"
/evidence="ECO:0000250|UniProtKB:P33242"
BINDING 436
/note="Phosphatidylethanolamine"
/evidence="ECO:0000269|PubMed:15897460"
BINDING 440
/note="Phosphatidylcholine"
/evidence="ECO:0000250|UniProtKB:P33242"
BINDING 440
/note="Phosphatidylethanolamine"
/evidence="ECO:0000269|PubMed:15897460"
MOD_RES 34
/note="N6-acetyllysine"
/evidence="ECO:0000305|PubMed:11479297"
MOD_RES 38
/note="N6-acetyllysine"
/evidence="ECO:0000305|PubMed:11479297"
MOD_RES 72
/note="N6-acetyllysine"
/evidence="ECO:0000305|PubMed:11479297"
MOD_RES 203
/note="Phosphoserine; by CDK7"
/evidence="ECO:0000269|PubMed:10230405,
ECO:0000269|PubMed:17901130, ECO:0000269|PubMed:19015234"
CROSSLNK 119
/note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
G-Cter in SUMO)"
/evidence="ECO:0000269|PubMed:15192080"
CROSSLNK 194
/note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
G-Cter in SUMO)"
/evidence="ECO:0000269|PubMed:15192080"
VARIANT 15
/note="V -> M (in SRXY3; without adrenal failure;
dbSNP:rs104894124)"
/evidence="ECO:0000269|PubMed:17200175"
/id="VAR_063255"
VARIANT 18..22
/note="Missing (in SRXY3; loss of DNA-binding;
significantly decreased transactivator activity)"
/evidence="ECO:0000269|PubMed:28459839"
/id="VAR_079571"
VARIANT 33
/note="C -> S (in SRXY3; without adrenal failure; markedly
impaired transcriptional activity)"
/evidence="ECO:0000269|PubMed:17694559"
/id="VAR_039106"
VARIANT 35
/note="G -> E (in SRXY3; with adrenal failure;
dbSNP:rs121918654)"
/evidence="ECO:0000269|PubMed:10369247"
/id="VAR_004737"
VARIANT 40
/note="T -> P (in SRXY3; loss of DNA-binding; significantly
decreased transactivator activity)"
/evidence="ECO:0000269|PubMed:28459839"
/id="VAR_079572"
VARIANT 65
/note="C -> Y (in SRXY3; without adrenal failure)"
/evidence="ECO:0000269|PubMed:24405868"
/id="VAR_078136"
VARIANT 78
/note="M -> I (in SRXY3; without adrenal failure;
dbSNP:rs104894125)"
/evidence="ECO:0000269|PubMed:17200175"
/id="VAR_063256"
VARIANT 84
/note="R -> H (in SRXY3; without adrenal failure; markedly
impaired transcriptional activity; dbSNP:rs375469069)"
/evidence="ECO:0000269|PubMed:17694559"
/id="VAR_039107"
VARIANT 91
/note="G -> S (in SRXY3; without adrenal failure;
dbSNP:rs104894126)"
/evidence="ECO:0000269|PubMed:17200175"
/id="VAR_063257"
VARIANT 92
/note="R -> Q (in SRXY3, SRXX4 and AINR; decreased
transactivator activity; no effect on nuclear location;
dbSNP:rs104894119)"
/evidence="ECO:0000269|PubMed:11932325,
ECO:0000269|PubMed:26523528, ECO:0000269|PubMed:27490115,
ECO:0000269|PubMed:27855412"
/id="VAR_016982"
VARIANT 92
/note="R -> W (in SRXY3 and SRXX4; decreased transactivator
activity; loss of DNA binding, at least to some known
consensus target sequences; no effect on nuclear location;
dbSNP:rs886039769)"
/evidence="ECO:0000269|PubMed:27378692,
ECO:0000269|PubMed:27490115, ECO:0000269|PubMed:27610946"
/id="VAR_078137"
VARIANT 123
/note="G -> A (in SPGF8 and POF7; activity levels similar
to wild-type; dbSNP:rs200163795)"
/evidence="ECO:0000269|PubMed:19246354,
ECO:0000269|PubMed:20887963"
/id="VAR_062967"
VARIANT 129
/note="P -> L (in SPGF8 and POF7; loss of activity;
dbSNP:rs200749741)"
/evidence="ECO:0000269|PubMed:19246354,
ECO:0000269|PubMed:20887963"
/id="VAR_062968"
VARIANT 131
/note="P -> L (in SPGF8; impairs transactivational
activity; dbSNP:rs387906690)"
/evidence="ECO:0000269|PubMed:20887963"
/id="VAR_065866"
VARIANT 146
/note="G -> A (in dbSNP:rs1110061)"
/evidence="ECO:0000269|PubMed:17694559,
ECO:0000269|PubMed:19246354"
/id="VAR_039108"
VARIANT 191
/note="R -> C (in SPGF8; impairs transactivational
activity; dbSNP:rs1253324106)"
/evidence="ECO:0000269|PubMed:20887963"
/id="VAR_065867"
VARIANT 212
/note="G -> S (in SPGF8; impairs transactivational
activity; dbSNP:rs201095702)"
/evidence="ECO:0000269|PubMed:20887963"
/id="VAR_065868"
VARIANT 231..233
/note="Missing (in POF7)"
/evidence="ECO:0000269|PubMed:19246354"
/id="VAR_062969"
VARIANT 238
/note="D -> N (in SPGF8; impairs transactivational
activity; dbSNP:rs780568525)"
/evidence="ECO:0000269|PubMed:20887963"
/id="VAR_065869"
VARIANT 255
/note="R -> L (in AINR; dbSNP:rs104894118)"
/evidence="ECO:0000269|PubMed:11038323"
/id="VAR_016983"
VARIANT 293
/note="D -> N (in POF7; without adrenal failure; partial
loss of activity; dbSNP:rs121918655)"
/evidence="ECO:0000269|PubMed:19246354"
/id="VAR_062970"
VARIANT 437
/note="L -> Q (in SRXY3; without adrenal failure;
dbSNP:rs104894120)"
/evidence="ECO:0000269|PubMed:17200175"
/id="VAR_063258"
MUTAGEN 119
/note="K->R: Loss of sumoylation; when associated with R-
194."
/evidence="ECO:0000269|PubMed:15192080"
MUTAGEN 194
/note="K->R: Loss of sumoylation."
/evidence="ECO:0000269|PubMed:15192080"
MUTAGEN 269
/note="A->F: Strongly reduced transactivation."
/evidence="ECO:0000269|PubMed:15897460"
MUTAGEN 341
/note="G->E: Reduced transactivation. Strongly reduced
transactivation; when associated with F-344."
/evidence="ECO:0000269|PubMed:15897460"
MUTAGEN 344
/note="L->F: Reduced transactivation. Strongly reduced
transactivation; when associated with E-341."
/evidence="ECO:0000269|PubMed:15897460"
MUTAGEN 433
/note="A->F: Strongly reduced transactivation."
/evidence="ECO:0000269|PubMed:15897460"
MUTAGEN 436
/note="Y->F: Loss of transactivation; when associated with
A-440."
/evidence="ECO:0000269|PubMed:15897460"
MUTAGEN 440
/note="K->A: Loss of transactivation; when associated with
F-436."
/evidence="ECO:0000269|PubMed:15897460"
CONFLICT 63
/note="K -> N (in Ref. 1; BAA13546)"
/evidence="ECO:0000305"
HELIX 225..233
/evidence="ECO:0007829|PDB:1ZDT"
HELIX 239..243
/evidence="ECO:0007829|PDB:1ZDT"
HELIX 262..282
/evidence="ECO:0007829|PDB:1ZDT"
HELIX 286..288
/evidence="ECO:0007829|PDB:1ZDT"
HELIX 291..317
/evidence="ECO:0007829|PDB:1ZDT"
STRAND 322..324
/evidence="ECO:0007829|PDB:1ZDT"
STRAND 326..328
/evidence="ECO:0007829|PDB:1YOW"
STRAND 330..332
/evidence="ECO:0007829|PDB:1ZDT"
HELIX 333..339
/evidence="ECO:0007829|PDB:1ZDT"
HELIX 342..360
/evidence="ECO:0007829|PDB:1ZDT"
HELIX 365..376
/evidence="ECO:0007829|PDB:1ZDT"
HELIX 381..383
/evidence="ECO:0007829|PDB:1ZDT"
HELIX 387..408
/evidence="ECO:0007829|PDB:1ZDT"
STRAND 411..413
/evidence="ECO:0007829|PDB:1ZDT"
HELIX 415..442
/evidence="ECO:0007829|PDB:1ZDT"
HELIX 451..456
/evidence="ECO:0007829|PDB:1ZDT"
SEQUENCE 461 AA; 51636 MW; 622644C62794826C CRC64;
MDYSYDEDLD ELCPVCGDKV SGYHYGLLTC ESCKGFFKRT VQNNKHYTCT ESQSCKIDKT
QRKRCPFCRF QKCLTVGMRL EAVRADRMRG GRNKFGPMYK RDRALKQQKK AQIRANGFKL
ETGPPMGVPP PPPPAPDYVL PPSLHGPEPK GLAAGPPAGP LGDFGAPALP MAVPGAHGPL
AGYLYPAFPG RAIKSEYPEP YASPPQPGLP YGYPEPFSGG PNVPELILQL LQLEPDEDQV
RARILGCLQE PTKSRPDQPA AFGLLCRMAD QTFISIVDWA RRCMVFKELE VADQMTLLQN
CWSELLVFDH IYRQVQHGKE GSILLVTGQE VELTTVATQA GSLLHSLVLR AQELVLQLLA
LQLDRQEFVC LKFIILFSLD LKFLNNHILV KDAQEKANAA LLDYTLCHYP HCGDKFQQLL
LCLVEVRALS MQAKEYLYHK HLGNEMPRNN LLIEMLQAKQ T


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EIAAB13285 Err2,Err-2,ERR-beta,Esrrb,Estrogen receptor-like 2,Estrogen-related receptor beta,Mouse,Mus musculus,Nr3b2,Nuclear receptor subfamily 3 group B member 2,Steroid hormone receptor ERR2
EIAAB27812 Early response protein NAK1,GFRP1,HMR,Homo sapiens,Human,NAK1,NR4A1,Nuclear hormone receptor NUR_77,Nuclear receptor subfamily 4 group A member 1,Nur77,Orphan nuclear receptor HMR,Orphan nuclear recep
EIAAB13283 Canis familiaris,Canis lupus familiaris,Dog,ERR-alpha,ESRRA,Estrogen-related receptor alpha,NR3B1,Nuclear receptor subfamily 3 group B member 1,Steroid hormone receptor ERR1
EIAAB27801 Mouse,mTll,Mus musculus,Nr2e1,Nuclear receptor subfamily 2 group E member 1,Nuclear receptor TLX,Protein tailless homolog,Tll,Tll,Tlx
EIAAB27802 Homo sapiens,hTll,Human,NR2E1,Nuclear receptor subfamily 2 group E member 1,Nuclear receptor TLX,Protein tailless homolog,Tll,TLX
EIAAB27820 CHN,CSMF,Homo sapiens,Human,MINOR,Mitogen-induced nuclear orphan receptor,Neuron-derived orphan receptor 1,NOR1,NR4A3,Nuclear hormone receptor NOR-1,Nuclear receptor subfamily 4 group A member 3,TEC
Pathways :
WP1162: Signaling of Hepatocyte Growth Factor Receptor
WP1046: Signaling of Hepatocyte Growth Factor Receptor
WP1235: Signaling of Hepatocyte Growth Factor Receptor
WP2292: Chemokine signaling pathway
WP313: Signaling of Hepatocyte Growth Factor Receptor
WP1206: Signaling of Hepatocyte Growth Factor Receptor
WP927: Signaling of Hepatocyte Growth Factor Receptor
WP193: Signaling of Hepatocyte Growth Factor Receptor
WP810: Signaling of Hepatocyte Growth Factor Receptor
WP94: Signaling of Hepatocyte Growth Factor Receptor
WP444: Signaling of Hepatocyte Growth Factor Receptor
WP2355: Corticotropin-releasing hormone
WP1531: Vitamin D synthesis
WP1789: Binding of RNA by Insulin-like Growth Factor-2 mRNA Binding Proteins (IGF2BPs/IMPs/VICKZs)
WP590: Cardiovascular Signaling
WP474: Endochondral Ossification
WP2272: Pathogenic Escherichia coli infection
WP1869: Neuroransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell
WP1899: Regulation of Insulin-like Growth Factor (IGF) Activity by Insulin-like Growth Factor Binding Proteins (IGFBPs)
WP878: EPO Receptor Signaling
WP1004: Kit Receptor Signaling Pathway
WP1963: The effect of Glucocorticoids on target gene expression
WP274: B Cell Receptor Signaling Pathway
WP734: Serotonin Receptor 4/6/7 and NR3C Signaling
WP1983: Splicing factor NOVA regulated synpatic proteins

Related Genes :
[NR5A1 AD4BP FTZF1 SF1] Steroidogenic factor 1 (SF-1) (STF-1) (hSF-1) (Adrenal 4-binding protein) (Fushi tarazu factor homolog 1) (Nuclear receptor subfamily 5 group A member 1) (Steroid hormone receptor Ad4BP)
[ftz-f1 NR5A3 CG4059] Nuclear hormone receptor FTZ-F1 (FTZ-F1 alpha) (Nuclear receptor subfamily 5 group A member 3)
[NR5A2 B1F CPF FTF] Nuclear receptor subfamily 5 group A member 2 (Alpha-1-fetoprotein transcription factor) (B1-binding factor) (hB1F) (CYP7A promoter-binding factor) (Hepatocytic transcription factor) (Liver receptor homolog 1) (LRH-1)
[nhr-6 cnr-8 nr4a5 C48D5.1] Nuclear hormone receptor family member nhr-6 (Nuclear receptor subfamily 4 group A member 5) (Steroid hormone receptor family member cnr8)
[NR0B1 AHC DAX1] Nuclear receptor subfamily 0 group B member 1 (DSS-AHC critical region on the X chromosome protein 1) (Nuclear receptor DAX-1)
[NR4A1 GFRP1 HMR NAK1] Nuclear receptor subfamily 4 group A member 1 (Early response protein NAK1) (Nuclear hormone receptor NUR/77) (Nur77) (Orphan nuclear receptor HMR) (Orphan nuclear receptor TR3) (ST-59) (Testicular receptor 3)
[Nr4a1 Hmr Ngfib] Nuclear receptor subfamily 4 group A member 1 (NUR77) (Nerve growth factor-induced protein I-B) (NGFI-B) (Orphan nuclear receptor HMR)
[Nr4a1 Gfrp Hmr N10 Nur77] Nuclear receptor subfamily 4 group A member 1 (Nuclear hormone receptor NUR/77) (Nuclear protein N10) (Orphan nuclear receptor HMR)
[Nr2c1 Tr2 Tr2-11] Nuclear receptor subfamily 2 group C member 1 (Orphan nuclear receptor TR2) (Testicular receptor 2) (mTR2)
[sex-1 cnr-14 nhr-24 nr1g1 F44A6.2] Steroid hormone receptor family member cnr14 (Nuclear receptor subfamily 1 group G member 1)
[ESRRA ERR1 ESRL1 NR3B1] Steroid hormone receptor ERR1 (Estrogen receptor-like 1) (Estrogen-related receptor alpha) (ERR-alpha) (Nuclear receptor subfamily 3 group B member 1)
[Nr2c2 Mtr2r1 Tak1 Tr4] Nuclear receptor subfamily 2 group C member 2 (Orphan nuclear receptor TAK1) (Orphan nuclear receptor TR4) (Testicular receptor 4)
[Esrra Err1 Estrra Nr3b1] Steroid hormone receptor ERR1 (Estrogen receptor-like 1) (Estrogen-related receptor alpha) (ERR-alpha) (Nuclear receptor subfamily 3 group B member 1)
[Rorc Nr1f3 Rorg Thor] Nuclear receptor ROR-gamma (Nuclear receptor RZR-gamma) (Nuclear receptor subfamily 1 group F member 3) (RAR-related orphan receptor C) (Retinoid-related orphan receptor-gamma) (Thymus orphan receptor) (TOR)
[Esrra Nr3b1] Steroid hormone receptor ERR1 (Estrogen-related receptor alpha) (ERR-alpha) (Nuclear receptor subfamily 3 group B member 1)
[NR3C1 GRL] Glucocorticoid receptor (GR) (Nuclear receptor subfamily 3 group C member 1)
[Nr4a2 Hzf-3 Nurr1 Rnr1] Nuclear receptor subfamily 4 group A member 2 (NUR-related factor 1) (Nuclear orphan receptor HZF-3) (Orphan nuclear receptor NURR1) (Regenerating liver nuclear receptor 1) (RNR-1) (SL-322)
[NR1D2] Nuclear receptor subfamily 1 group D member 2 (Orphan nuclear hormone receptor BD73) (Rev-erb alpha-related receptor) (RVR) (Rev-erb-beta) (V-erbA-related protein 1-related) (EAR-1R)
[HNF4A HNF4 NR2A1 TCF14] Hepatocyte nuclear factor 4-alpha (HNF-4-alpha) (Nuclear receptor subfamily 2 group A member 1) (Transcription factor 14) (TCF-14) (Transcription factor HNF-4)
[Nr4a2 Nurr1] Nuclear receptor subfamily 4 group A member 2 (NUR-related factor 1) (Orphan nuclear receptor NURR1)
[NR2F2 ARP1 TFCOUP2] COUP transcription factor 2 (COUP-TF2) (Apolipoprotein A-I regulatory protein 1) (ARP-1) (COUP transcription factor II) (COUP-TF II) (Nuclear receptor subfamily 2 group F member 2)
[Thra C-erba-alpha Nr1a1] Thyroid hormone receptor alpha (Nuclear receptor subfamily 1 group A member 1) (c-erbA-1) (c-erbA-alpha)
[THRA EAR7 ERBA1 NR1A1 THRA1 THRA2] Thyroid hormone receptor alpha (Nuclear receptor subfamily 1 group A member 1) (V-erbA-related protein 7) (EAR-7) (c-erbA-1) (c-erbA-alpha)
[THRB ERBA2 NR1A2 THR1] Thyroid hormone receptor beta (Nuclear receptor subfamily 1 group A member 2) (c-erbA-2) (c-erbA-beta)
[Hnf4a Hnf-4 Hnf4 Nr2a1 Tcf14] Hepatocyte nuclear factor 4-alpha (HNF-4-alpha) (Nuclear receptor subfamily 2 group A member 1) (Transcription factor 14) (TCF-14) (Transcription factor HNF-4)
[Hnf4 NR2A4 CG9310] Transcription factor HNF-4 homolog (dHNF4) (Nuclear receptor subfamily 2 group A member 4)
[Nr3c1 Grl Grl1] Glucocorticoid receptor (GR) (Nuclear receptor subfamily 3 group C member 1)
[Esrrb Err-2 Err2 Nr3b2] Steroid hormone receptor ERR2 (Estrogen receptor-like 2) (Estrogen-related receptor beta) (ERR-beta) (Nuclear receptor subfamily 3 group B member 2)
[NR2C2 TAK1 TR4] Nuclear receptor subfamily 2 group C member 2 (Orphan nuclear receptor TAK1) (Orphan nuclear receptor TR4) (Testicular receptor 4)
[Nr3c1 Grl] Glucocorticoid receptor (GR) (Nuclear receptor subfamily 3 group C member 1)

Bibliography :