STF1_HUMAN
ID STF1_HUMAN Reviewed; 461 AA.
AC Q13285; O15196; Q5T6F5;
DT 15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
DT 01-JAN-1998, sequence version 2.
DT 03-AUG-2022, entry version 231.
DE RecName: Full=Steroidogenic factor 1;
DE Short=SF-1;
DE Short=STF-1;
DE Short=hSF-1 {ECO:0000303|PubMed:8938589};
DE AltName: Full=Adrenal 4-binding protein;
DE AltName: Full=Fushi tarazu factor homolog 1;
DE AltName: Full=Nuclear receptor subfamily 5 group A member 1;
DE AltName: Full=Steroid hormone receptor Ad4BP;
GN Name=NR5A1; Synonyms=AD4BP, FTZF1, SF1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=8806624; DOI=10.1006/bbrc.1996.1343;
RA Oba K., Yanase T., Nomura M., Morohashi K., Takayanagi R., Nawata H.;
RT "Structural characterization of human Ad4bp (SF-1) gene.";
RL Biochem. Biophys. Res. Commun. 226:261-267(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=8938589; DOI=10.1677/jme.0.0170139;
RA Wong M., Ramayya M.S., Chrousos G.P., Driggers P.H., Parker K.L.;
RT "Cloning and sequence analysis of the human gene encoding steroidogenic
RT factor 1.";
RL J. Mol. Endocrinol. 17:139-147(1996).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Santa Barbara P., Desclozeaux M., Boizet B., Bonneaud N., Laudet V.,
RA Poulat F., Berta P.;
RT "Cloning and characterization of the human steroidogenic factor 1 (SF-1)
RT cDNA.";
RL Submitted (APR-1997) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Pancreas, and Spleen;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 20-75.
RA Yeh J.R., Chung B.C.;
RT "Human SF1 genomic segment.";
RL Submitted (JUL-1995) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP TISSUE SPECIFICITY.
RX PubMed=9177385; DOI=10.1210/jcem.82.6.3967;
RA Ramayya M.S., Zhou J., Kino T., Segars J.H., Bondy C.A., Chrousos G.P.;
RT "Steroidogenic factor 1 messenger ribonucleic acid expression in
RT steroidogenic and nonsteroidogenic human tissues: Northern blot and in situ
RT hybridization studies.";
RL J. Clin. Endocrinol. Metab. 82:1799-1806(1997).
RN [9]
RP PHOSPHORYLATION AT SER-203.
RX PubMed=10230405; DOI=10.1016/s1097-2765(00)80480-3;
RA Hammer G.D., Krylova I., Zhang Y., Darimont B.D., Simpson K., Weigel N.L.,
RA Ingraham H.A.;
RT "Phosphorylation of the nuclear receptor SF-1 modulates cofactor
RT recruitment: integration of hormone signaling in reproduction and stress.";
RL Mol. Cell 3:521-526(1999).
RN [10]
RP ACETYLATION AT LYS-34; LYS-38 AND LYS-72, AND SUBCELLULAR LOCATION.
RX PubMed=11479297; DOI=10.1074/jbc.m104427200;
RA Jacob A.L., Lund J., Martinez P., Hedin L.;
RT "Acetylation of steroidogenic factor 1 protein regulates its
RT transcriptional activity and recruits the coactivator GCN5.";
RL J. Biol. Chem. 276:37659-37664(2001).
RN [11]
RP INTERACTION WITH SFPQ, AND IDENTIFICATION IN A COMPLEX WITH SFPQ AND NONO.
RX PubMed=11897684; DOI=10.1210/endo.143.4.8748;
RA Sewer M.B., Nguyen V.Q., Huang C.J., Tucker P.W., Kagawa N., Waterman M.R.;
RT "Transcriptional activation of human CYP17 in H295R adrenocortical cells
RT depends on complex formation among p54(nrb)/NonO, protein-associated
RT splicing factor, and SF-1, a complex that also participates in repression
RT of transcription.";
RL Endocrinology 143:1280-1290(2002).
RN [12]
RP SUMOYLATION AT LYS-119 AND LYS-194, AND MUTAGENESIS OF LYS-119 AND LYS-194.
RX PubMed=15192080; DOI=10.1210/me.2004-0173;
RA Komatsu T., Mizusaki H., Mukai T., Ogawa H., Baba D., Shirakawa M.,
RA Hatakeyama S., Nakayama K.I., Yamamoto H., Kikuchi A., Morohashi K.;
RT "Small ubiquitin-like modifier 1 (SUMO-1) modification of the synergy
RT control motif of Ad4 binding protein/steroidogenic factor 1 (Ad4BP/SF-1)
RT regulates synergistic transcription between Ad4BP/SF-1 and Sox9.";
RL Mol. Endocrinol. 18:2451-2462(2004).
RN [13]
RP FUNCTION, AND INTERACTION WITH HIPK3.
RX PubMed=17210646; DOI=10.1128/mcb.02253-06;
RA Lan H.-C., Li H.-J., Lin G., Lai P.-Y., Chung B.-C.;
RT "Cyclic AMP stimulates SF-1-dependent CYP11A1 expression through
RT homeodomain-interacting protein kinase 3-mediated Jun N-terminal kinase and
RT c-Jun phosphorylation.";
RL Mol. Cell. Biol. 27:2027-2036(2007).
RN [14]
RP INTERACTION WITH DGKQ.
RX PubMed=17664281; DOI=10.1128/mcb.00355-07;
RA Li D., Urs A.N., Allegood J., Leon A., Merrill A.H. Jr., Sewer M.B.;
RT "Cyclic AMP-stimulated interaction between steroidogenic factor 1 and
RT diacylglycerol kinase theta facilitates induction of CYP17.";
RL Mol. Cell. Biol. 27:6669-6685(2007).
RN [15]
RP PHOSPHORYLATION AT SER-203, AND INTERACTION WITH CDK7.
RX PubMed=17901130; DOI=10.1210/me.2006-0478;
RA Lewis A.E., Rusten M., Hoivik E.A., Vikse E.L., Hansson M.L.,
RA Wallberg A.E., Bakke M.;
RT "Phosphorylation of steroidogenic factor 1 is mediated by cyclin-dependent
RT kinase 7.";
RL Mol. Endocrinol. 22:91-104(2008).
RN [16]
RP SUMOYLATION, AND PHOSPHORYLATION AT SER-203.
RX PubMed=19015234; DOI=10.1128/mcb.00295-08;
RA Yang W.-H., Heaton J.H., Brevig H., Mukherjee S., Iniguez-Lluhi J.A.,
RA Hammer G.D.;
RT "SUMOylation inhibits SF-1 activity by reducing CDK7-mediated serine 203
RT phosphorylation.";
RL Mol. Cell. Biol. 29:613-625(2009).
RN [17]
RP X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF 222-461 IN COMPLEX WITH NCOA2 AND
RP PHOSPHOLIPID.
RX PubMed=15707893; DOI=10.1016/j.cell.2005.01.024;
RA Krylova I.N., Sablin E.P., Moore J., Xu R.X., Waitt G.M., MacKay J.A.,
RA Juzumiene D., Bynum J.M., Madauss K., Montana V., Lebedeva L., Suzawa M.,
RA Williams J.D., Williams S.P., Guy R.K., Thornton J.W., Fletterick R.J.,
RA Willson T.M., Ingraham H.A.;
RT "Structural analyses reveal phosphatidyl inositols as ligands for the NR5
RT orphan receptors SF-1 and LRH-1.";
RL Cell 120:343-355(2005).
RN [18] {ECO:0007744|PDB:1ZDT}
RP X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS) OF 221-461 IN COMPLEX WITH NCOA2 AND
RP A PHOSPHATIDYLETHANOLAMINE, AND MUTAGENESIS OF ALA-269; GLY-341; LEU-344;
RP ALA-433; TYR-436 AND LYS-440.
RX PubMed=15897460; DOI=10.1073/pnas.0409482102;
RA Wang W., Zhang C., Marimuthu A., Krupka H.I., Tabrizizad M., Shelloe R.,
RA Mehra U., Eng K., Nguyen H., Settachatgul C., Powell B., Milburn M.V.,
RA West B.L.;
RT "The crystal structures of human steroidogenic factor-1 and liver receptor
RT homologue-1.";
RL Proc. Natl. Acad. Sci. U.S.A. 102:7505-7510(2005).
RN [19]
RP VARIANT SRXY3 GLU-35.
RX PubMed=10369247; DOI=10.1038/9629;
RA Achermann J.C., Ito M., Ito M., Hindmarsh P.C., Jameson J.L.;
RT "A mutation in the gene encoding steroidogenic factor-1 causes XY sex
RT reversal and adrenal failure in humans.";
RL Nat. Genet. 22:125-126(1999).
RN [20]
RP VARIANT AINR LEU-255.
RX PubMed=11038323; DOI=10.1086/316893;
RA Biason-Lauber A., Schoenle E.J.;
RT "Apparently normal ovarian differentiation in a prepubertal girl with
RT transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and
RT adrenocortical insufficiency.";
RL Am. J. Hum. Genet. 67:1563-1568(2000).
RN [21]
RP VARIANT SRXY3 GLN-92.
RX PubMed=11932325; DOI=10.1210/jcem.87.4.8376;
RA Achermann J.C., Ozisik G., Ito M., Orun U.A., Harmanci K., Gurakan B.,
RA Jameson J.L.;
RT "Gonadal determination and adrenal development are regulated by the orphan
RT nuclear receptor steroidogenic factor-1, in a dose-dependent manner.";
RL J. Clin. Endocrinol. Metab. 87:1829-1833(2002).
RN [22]
RP VARIANTS SRXY3 MET-15; ILE-78; SER-91 AND GLN-437.
RX PubMed=17200175; DOI=10.1210/jc.2006-1672;
RA Lin L., Philibert P., Ferraz-de-Souza B., Kelberman D., Homfray T.,
RA Albanese A., Molini V., Sebire N.J., Einaudi S., Conway G.S., Hughes I.A.,
RA Jameson J.L., Sultan C., Dattani M.T., Achermann J.C.;
RT "Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP,
RT NR5A1) are associated with 46,XY disorders of sex development with normal
RT adrenal function.";
RL J. Clin. Endocrinol. Metab. 92:991-999(2007).
RN [23]
RP VARIANTS SRXY3 SER-33 AND HIS-84, VARIANT ALA-146, AND CHARACTERIZATION OF
RP VARIANTS SRXY3 SER-33 AND HIS-84.
RX PubMed=17694559; DOI=10.1002/humu.20588;
RA Koehler B., Lin L., Ferraz-de-Souza B., Wieacker P., Heidemann P.,
RA Schroeder V., Biebermann H., Schnabel D., Grueters A., Achermann J.C.;
RT "Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY
RT patients with severe underandrogenization but without adrenal
RT insufficiency.";
RL Hum. Mutat. 29:59-64(2008).
RN [24]
RP VARIANTS POF7 ALA-123; LEU-129; 231-LEU--LEU-233 DEL AND ASN-293, VARIANT
RP ALA-146, AND CHARACTERIZATION OF VARIANTS POF7 ALA-123; LEU-129 AND
RP ASN-293.
RX PubMed=19246354; DOI=10.1056/nejmoa0806228;
RA Lourenco D., Brauner R., Lin L., De Perdigo A., Weryha G., Muresan M.,
RA Boudjenah R., Guerra-Junior G., Maciel-Guerra A.T., Achermann J.C.,
RA McElreavey K., Bashamboo A.;
RT "Mutations in NR5A1 associated with ovarian insufficiency.";
RL N. Engl. J. Med. 360:1200-1210(2009).
RN [25]
RP VARIANTS SPGF8 ALA-123; LEU-129; LEU-131; CYS-191; SER-212 AND ASN-238, AND
RP CHARACTERIZATION OF VARIANTS SPGF8 LEU-131; CYS-191; SER-212 AND ASN-238.
RX PubMed=20887963; DOI=10.1016/j.ajhg.2010.09.009;
RA Bashamboo A., Ferraz-de-Souza B., Lourenco D., Lin L., Sebire N.J.,
RA Montjean D., Bignon-Topalovic J., Mandelbaum J., Siffroi J.P.,
RA Christin-Maitre S., Radhakrishna U., Rouba H., Ravel C., Seeler J.,
RA Achermann J.C., McElreavey K.;
RT "Human male infertility associated with mutations in NR5A1 encoding
RT steroidogenic factor 1.";
RL Am. J. Hum. Genet. 87:505-512(2010).
RN [26]
RP VARIANT SRXY3 TYR-65.
RX PubMed=24405868; DOI=10.1186/1471-2350-15-7;
RA Fabbri H.C., de Andrade J.G., Soardi F.C., de Calais F.L., Petroli R.J.,
RA Maciel-Guerra A.T., Guerra-Junior G., de Mello M.P.;
RT "The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with
RT normal testosterone levels and their mother with primary ovarian
RT insufficiency.";
RL BMC Med. Genet. 15:7-7(2014).
RN [27]
RP VARIANT AINR GLN-92.
RX PubMed=26523528; DOI=10.1210/jc.2015-3250;
RA Guran T., Buonocore F., Saka N., Ozbek M.N., Aycan Z., Bereket A., Bas F.,
RA Darcan S., Bideci A., Guven A., Demir K., Akinci A., Buyukinan M.,
RA Aydin B.K., Turan S., Agladioglu S.Y., Atay Z., Abali Z.Y., Tarim O.,
RA Catli G., Yuksel B., Akcay T., Yildiz M., Ozen S., Doger E., Demirbilek H.,
RA Ucar A., Isik E., Ozhan B., Bolu S., Ozgen I.T., Suntharalingham J.P.,
RA Achermann J.C.;
RT "Rare causes of primary adrenal insufficiency: genetic and clinical
RT characterization of a large nationwide cohort.";
RL J. Clin. Endocrinol. Metab. 101:284-292(2016).
RN [28]
RP VARIANT SRXX4 TRP-92, CHARACTERIZATION OF VARIANT SRXX4 TRP-92, INVOLVEMENT
RP IN SRXX4, CHARACTERIZATION OF VARIANT SRXY3 GLN-92, AND SUBCELLULAR
RP LOCATION.
RX PubMed=27490115; DOI=10.1038/gim.2016.118;
RA Baetens D., Stoop H., Peelman F., Todeschini A.L., Rosseel T.,
RA Coppieters F., Veitia R.A., Looijenga L.H., De Baere E., Cools M.;
RT "NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular
RT disorders of sex development.";
RL Genet. Med. 19:367-376(2017).
RN [29]
RP INVOLVEMENT IN SRXX4, AND VARIANT SRXX4 GLN-92.
RX PubMed=27855412; DOI=10.1159/000452888;
RA Swartz J.M., Ciarlo R., Guo M.H., Abrha A., Weaver B., Diamond D.A.,
RA Chan Y.M., Hirschhorn J.N.;
RT "A 46,XX ovotesticular disorder of sex development likely caused by a
RT steroidogenic factor-1 (NR5A1) variant.";
RL Horm. Res. Paediatr. 87:191-195(2017).
RN [30]
RP INVOLVEMENT IN SRXX4, INVOLVEMENT IN SRXY3, VARIANT SRXX4 TRP-92, VARIANT
RP SRXY3 TRP-92, CHARACTERIZATION OF VARIANT SRXX4 TRP-92, AND FUNCTION.
RX PubMed=27378692; DOI=10.1093/hmg/ddw186;
RG Members of UDN;
RA Bashamboo A., Donohoue P.A., Vilain E., Rojo S., Calvel P.,
RA Seneviratne S.N., Buonocore F., Barseghyan H., Bingham N., Rosenfeld J.A.,
RA Mulukutla S.N., Jain M., Burrage L., Dhar S., Balasubramanyam A., Lee B.,
RA Dumargne M.C., Eozenou C., Suntharalingham J.P., de Silva K., Lin L.,
RA Bignon-Topalovic J., Poulat F., Lagos C.F., McElreavey K., Achermann J.C.;
RT "A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act
RT as a molecular switch in human sex development.";
RL Hum. Mol. Genet. 25:3446-3453(2016).
RN [31]
RP VARIANT SRXX4 TRP-92, CHARACTERIZATION OF VARIANT SRXX4 TRP-92, AND
RP INVOLVEMENT IN SRXX4.
RX PubMed=27610946; DOI=10.1002/humu.23116;
RA Igarashi M., Takasawa K., Hakoda A., Kanno J., Takada S., Miyado M.,
RA Baba T., Morohashi K.I., Tajima T., Hata K., Nakabayashi K., Matsubara Y.,
RA Sekido R., Ogata T., Kashimada K., Fukami M.;
RT "Identical NR5A1 missense mutations in two unrelated 46,XX individuals with
RT testicular tissues.";
RL Hum. Mutat. 38:39-42(2017).
RN [32]
RP VARIANTS SRXY3 18-ASP--GLY-22 DEL AND PRO-40, CHARACTERIZATION OF VARIANTS
RP SRXY3 18-ASP--GLY-22 DEL AND PRO-40, AND FUNCTION.
RX PubMed=28459839; DOI=10.1371/journal.pone.0176720;
RA Werner R., Moenig I., Luenstedt R., Wuensch L., Thorns C., Reiz B.,
RA Krause A., Schwab K.O., Binder G., Holterhus P.M., Hiort O.;
RT "New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.";
RL PLoS ONE 12:E0176720-E0176720(2017).
CC -!- FUNCTION: Transcriptional activator. Essential for sexual
CC differentiation and formation of the primary steroidogenic tissues
CC (PubMed:27378692). Binds to the Ad4 site found in the promoter region
CC of steroidogenic P450 genes such as CYP11A, CYP11B and CYP21B. Also
CC regulates the AMH/Muellerian inhibiting substance gene as well as the
CC AHCH and STAR genes. 5'-YCAAGGYC-3' and 5'-RRAGGTCA-3' are the
CC consensus sequences for the recognition by NR5A1 (PubMed:27378692). The
CC SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal
CC and cAMP-dependent transcriptional activity. Binds phosphatidylcholine
CC (By similarity). Binds phospholipids with a phosphatidylinositol (PI)
CC headgroup, in particular PI(3,4)P2 and PI(3,4,5)P3. Activated by the
CC phosphorylation of NR5A1 by HIPK3 leading to increased steroidogenic
CC gene expression upon cAMP signaling pathway stimulation.
CC {ECO:0000250|UniProtKB:P33242, ECO:0000269|PubMed:17210646,
CC ECO:0000269|PubMed:27378692, ECO:0000269|PubMed:28459839}.
CC -!- SUBUNIT: Binds DNA as a monomer. Interacts with NR0B2 and PPARGC1A (By
CC similarity). Part of a complex consisting of SFPQ, NONO and NR5A1.
CC Interacts with NCOA2. Interacts with DGKQ and CDK7. Binds to and
CC activated by HIPK3. {ECO:0000250|UniProtKB:P33242,
CC ECO:0000269|PubMed:11897684, ECO:0000269|PubMed:15707893,
CC ECO:0000269|PubMed:15897460, ECO:0000269|PubMed:17210646,
CC ECO:0000269|PubMed:17664281, ECO:0000269|PubMed:17901130}.
CC -!- INTERACTION:
CC Q13285; Q53TS8: C2CD6; NbExp=3; IntAct=EBI-874629, EBI-739879;
CC Q13285; P61024: CKS1B; NbExp=3; IntAct=EBI-874629, EBI-456371;
CC Q13285; O43639: NCK2; NbExp=3; IntAct=EBI-874629, EBI-713635;
CC Q13285; P51843: NR0B1; NbExp=9; IntAct=EBI-874629, EBI-946109;
CC Q13285; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-874629, EBI-741158;
CC Q13285; P40937: RFC5; NbExp=3; IntAct=EBI-874629, EBI-712376;
CC Q13285; Q8WW24: TEKT4; NbExp=3; IntAct=EBI-874629, EBI-750487;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00407,
CC ECO:0000269|PubMed:11479297, ECO:0000269|PubMed:27490115}.
CC -!- TISSUE SPECIFICITY: High expressed in the adrenal cortex, the ovary,
CC the testis, and the spleen (PubMed:9177385).
CC {ECO:0000269|PubMed:9177385}.
CC -!- PTM: Acetylation stimulates the transcriptional activity.
CC {ECO:0000269|PubMed:11479297}.
CC -!- PTM: Sumoylation reduces CDK7-mediated phosphorylation on Ser-203.
CC {ECO:0000269|PubMed:15192080, ECO:0000269|PubMed:19015234}.
CC -!- PTM: Phosphorylated on Ser-203 by CDK7. This phosphorylation promotes
CC transcriptional activity. {ECO:0000269|PubMed:10230405,
CC ECO:0000269|PubMed:17901130, ECO:0000269|PubMed:19015234}.
CC -!- DISEASE: 46,XY sex reversal 3 (SRXY3) [MIM:612965]: A condition
CC characterized by male-to-female sex reversal in the presence of a
CC normal 46,XY karyotype. {ECO:0000269|PubMed:10369247,
CC ECO:0000269|PubMed:11932325, ECO:0000269|PubMed:17200175,
CC ECO:0000269|PubMed:17694559, ECO:0000269|PubMed:24405868,
CC ECO:0000269|PubMed:27378692, ECO:0000269|PubMed:27490115,
CC ECO:0000269|PubMed:28459839}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: 46,XX sex reversal 4 (SRXX4) [MIM:617480]: A condition in
CC which male gonads develop in a genetic female (female to male sex
CC reversal). {ECO:0000269|PubMed:27378692, ECO:0000269|PubMed:27490115,
CC ECO:0000269|PubMed:27610946, ECO:0000269|PubMed:27855412}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Adrenal insufficiency, NR5A1-related (AINR) [MIM:612964]: A
CC disorder characterized by adrenal insufficiency, muscular hypotonia,
CC decreased sodium and increased potassium levels, elevated ACTH, salt-
CC wasting crisis, prolonged jaundice, hypoglycemia, and vomiting.
CC {ECO:0000269|PubMed:11038323, ECO:0000269|PubMed:26523528}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Premature ovarian failure 7 (POF7) [MIM:612964]: An ovarian
CC disorder defined as the cessation of ovarian function under the age of
CC 40 years. It is characterized by oligomenorrhea or amenorrhea, in the
CC presence of elevated levels of serum gonadotropins and low estradiol.
CC {ECO:0000269|PubMed:19246354}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Spermatogenic failure 8 (SPGF8) [MIM:613957]: An infertility
CC disorder characterized by spermatogenesis failure and severe
CC oligozoospermia. {ECO:0000269|PubMed:20887963}. Note=The disease is
CC caused by variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the nuclear hormone receptor family. NR5
CC subfamily. {ECO:0000305}.
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DR EMBL; D88155; BAA13546.1; -; Genomic_DNA.
DR EMBL; U76388; AAB53105.1; -; mRNA.
DR EMBL; AL137846; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL354979; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471090; EAW87591.1; -; Genomic_DNA.
DR EMBL; BC032501; AAH32501.1; -; mRNA.
DR EMBL; U32592; AAA75332.1; -; Genomic_DNA.
DR CCDS; CCDS6856.1; -.
DR PIR; JC4972; JC4972.
DR RefSeq; NP_004950.2; NM_004959.4.
DR RefSeq; XP_005251928.1; XM_005251871.3.
DR RefSeq; XP_011516757.1; XM_011518455.2.
DR PDB; 1YOW; X-ray; 3.00 A; A=222-461.
DR PDB; 1ZDT; X-ray; 2.10 A; A/B=221-461.
DR PDB; 4QJR; X-ray; 2.40 A; A=218-461.
DR PDB; 4QK4; X-ray; 2.81 A; A=218-461.
DR PDB; 7KHT; X-ray; 2.50 A; A=218-461.
DR PDBsum; 1YOW; -.
DR PDBsum; 1ZDT; -.
DR PDBsum; 4QJR; -.
DR PDBsum; 4QK4; -.
DR PDBsum; 7KHT; -.
DR AlphaFoldDB; Q13285; -.
DR SMR; Q13285; -.
DR BioGRID; 108792; 38.
DR CORUM; Q13285; -.
DR IntAct; Q13285; 42.
DR MINT; Q13285; -.
DR STRING; 9606.ENSP00000362690; -.
DR BindingDB; Q13285; -.
DR ChEMBL; CHEMBL4666; -.
DR DrugBank; DB04683; (2R)-3-{[{[(2S)-2,3-DIHYDROXYPROPYL]OXY}(HYDROXY)PHOSPHORYL]OXY}-2-[(9E)-HEXADEC-9-ENOYLOXY]PROPYL (9E)-OCTADEC-9-ENOATE.
DR DrugBank; DB04752; Phosphatidyl ethanol.
DR GuidetoPHARMACOLOGY; 632; -.
DR iPTMnet; Q13285; -.
DR PhosphoSitePlus; Q13285; -.
DR BioMuta; NR5A1; -.
DR DMDM; 3121738; -.
DR MassIVE; Q13285; -.
DR PaxDb; Q13285; -.
DR PeptideAtlas; Q13285; -.
DR PRIDE; Q13285; -.
DR ProteomicsDB; 59276; -.
DR Antibodypedia; 16333; 439 antibodies from 35 providers.
DR DNASU; 2516; -.
DR Ensembl; ENST00000373588.9; ENSP00000362690.4; ENSG00000136931.10.
DR GeneID; 2516; -.
DR KEGG; hsa:2516; -.
DR MANE-Select; ENST00000373588.9; ENSP00000362690.4; NM_004959.5; NP_004950.2.
DR UCSC; uc004boo.2; human.
DR CTD; 2516; -.
DR DisGeNET; 2516; -.
DR GeneCards; NR5A1; -.
DR GeneReviews; NR5A1; -.
DR HGNC; HGNC:7983; NR5A1.
DR HPA; ENSG00000136931; Group enriched (adrenal gland, lymphoid tissue).
DR MalaCards; NR5A1; -.
DR MIM; 184757; gene.
DR MIM; 612964; phenotype.
DR MIM; 612965; phenotype.
DR MIM; 613957; phenotype.
DR MIM; 617480; phenotype.
DR neXtProt; NX_Q13285; -.
DR OpenTargets; ENSG00000136931; -.
DR Orphanet; 243; 46,XX gonadal dysgenesis.
DR Orphanet; 2138; 46,XX ovotesticular disorder of sex development.
DR Orphanet; 393; 46,XX testicular disorder of sex development.
DR Orphanet; 242; 46,XY complete gonadal dysgenesis.
DR Orphanet; 251510; 46,XY partial gonadal dysgenesis.
DR Orphanet; 399805; Male infertility with azoospermia or oligozoospermia due to single gene mutation.
DR Orphanet; 619; NON RARE IN EUROPE: Primary ovarian failure.
DR PharmGKB; PA31764; -.
DR VEuPathDB; HostDB:ENSG00000136931; -.
DR eggNOG; KOG4218; Eukaryota.
DR GeneTree; ENSGT00940000153391; -.
DR HOGENOM; CLU_011437_0_0_1; -.
DR InParanoid; Q13285; -.
DR OMA; HALAHHI; -.
DR OrthoDB; 619653at2759; -.
DR PhylomeDB; Q13285; -.
DR TreeFam; TF350737; -.
DR PathwayCommons; Q13285; -.
DR Reactome; R-HSA-383280; Nuclear Receptor transcription pathway.
DR Reactome; R-HSA-4090294; SUMOylation of intracellular receptors.
DR Reactome; R-HSA-452723; Transcriptional regulation of pluripotent stem cells.
DR Reactome; R-HSA-9690406; Transcriptional regulation of testis differentiation.
DR SignaLink; Q13285; -.
DR SIGNOR; Q13285; -.
DR BioGRID-ORCS; 2516; 22 hits in 1097 CRISPR screens.
DR EvolutionaryTrace; Q13285; -.
DR GeneWiki; Steroidogenic_factor_1; -.
DR GenomeRNAi; 2516; -.
DR Pharos; Q13285; Tchem.
DR PRO; PR:Q13285; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q13285; protein.
DR Bgee; ENSG00000136931; Expressed in right adrenal gland cortex and 64 other tissues.
DR ExpressionAtlas; Q13285; baseline and differential.
DR Genevisible; Q13285; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0090575; C:RNA polymerase II transcription regulator complex; ISS:BHF-UCL.
DR GO; GO:0003682; F:chromatin binding; ISS:BHF-UCL.
DR GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IDA:UniProtKB.
DR GO; GO:0019899; F:enzyme binding; IPI:UniProtKB.
DR GO; GO:0004879; F:nuclear receptor activity; IDA:ParkinsonsUK-UCL.
DR GO; GO:0005543; F:phospholipid binding; IDA:UniProtKB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; ISS:BHF-UCL.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IDA:ParkinsonsUK-UCL.
DR GO; GO:0043565; F:sequence-specific DNA binding; IDA:UniProtKB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0001221; F:transcription coregulator binding; IPI:UniProtKB.
DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR GO; GO:0030325; P:adrenal gland development; IEA:Ensembl.
DR GO; GO:0097720; P:calcineurin-mediated signaling; IEA:Ensembl.
DR GO; GO:0008585; P:female gonad development; IMP:UniProtKB.
DR GO; GO:0042445; P:hormone metabolic process; IEA:Ensembl.
DR GO; GO:0009755; P:hormone-mediated signaling pathway; IBA:GO_Central.
DR GO; GO:0033327; P:Leydig cell differentiation; IEA:Ensembl.
DR GO; GO:0001553; P:luteinization; IEA:Ensembl.
DR GO; GO:0051457; P:maintenance of protein location in nucleus; IEA:Ensembl.
DR GO; GO:0008584; P:male gonad development; IMP:UniProtKB.
DR GO; GO:0030238; P:male sex determination; IMP:BHF-UCL.
DR GO; GO:0010259; P:multicellular organism aging; IEA:Ensembl.
DR GO; GO:2000195; P:negative regulation of female gonad development; IEA:Ensembl.
DR GO; GO:0010628; P:positive regulation of gene expression; IDA:UniProtKB.
DR GO; GO:2000020; P:positive regulation of male gonad development; IDA:UniProtKB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IMP:UniProtKB.
DR GO; GO:0007538; P:primary sex determination; TAS:ProtInc.
DR GO; GO:0050810; P:regulation of steroid biosynthetic process; TAS:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0097210; P:response to gonadotropin-releasing hormone; IEA:Ensembl.
DR GO; GO:0060008; P:Sertoli cell differentiation; IEA:Ensembl.
DR GO; GO:0007530; P:sex determination; IMP:UniProtKB.
DR GO; GO:0009888; P:tissue development; IBA:GO_Central.
DR GO; GO:0006366; P:transcription by RNA polymerase II; IEA:Ensembl.
DR Gene3D; 1.10.565.10; -; 1.
DR Gene3D; 3.30.50.10; -; 1.
DR IDEAL; IID00072; -.
DR InterPro; IPR035500; NHR-like_dom_sf.
DR InterPro; IPR016355; NR5_fam.
DR InterPro; IPR000536; Nucl_hrmn_rcpt_lig-bd.
DR InterPro; IPR001723; Nuclear_hrmn_rcpt.
DR InterPro; IPR001628; Znf_hrmn_rcpt.
DR InterPro; IPR013088; Znf_NHR/GATA.
DR PANTHER; PTHR24086; PTHR24086; 1.
DR Pfam; PF00104; Hormone_recep; 1.
DR Pfam; PF00105; zf-C4; 1.
DR PIRSF; PIRSF002530; Nuc_orph_FTZ-F1; 1.
DR PRINTS; PR00398; STRDHORMONER.
DR PRINTS; PR00047; STROIDFINGER.
DR SMART; SM00430; HOLI; 1.
DR SMART; SM00399; ZnF_C4; 1.
DR SUPFAM; SSF48508; SSF48508; 1.
DR PROSITE; PS51843; NR_LBD; 1.
DR PROSITE; PS00031; NUCLEAR_REC_DBD_1; 1.
DR PROSITE; PS51030; NUCLEAR_REC_DBD_2; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Activator; Disease variant; DNA-binding;
KW Isopeptide bond; Lipid-binding; Metal-binding; Nucleus; Phosphoprotein;
KW Premature ovarian failure; Receptor; Reference proteome; Transcription;
KW Transcription regulation; Ubl conjugation; Zinc; Zinc-finger.
FT CHAIN 1..461
FT /note="Steroidogenic factor 1"
FT /id="PRO_0000053729"
FT DOMAIN 222..459
FT /note="NR LBD"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01189"
FT DNA_BIND 10..85
FT /note="Nuclear receptor"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00407"
FT ZN_FING 13..33
FT /note="NR C4-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00407"
FT ZN_FING 49..73
FT /note="NR C4-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00407"
FT REGION 119..157
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 230..461
FT /note="Important for dimerization"
FT COMPBIAS 124..143
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 341
FT /ligand="1,2-diacylglycero-3-phosphoethanolamine"
FT /ligand_id="ChEBI:CHEBI:57613"
FT /evidence="ECO:0000269|PubMed:15897460"
FT BINDING 341
FT /ligand="a 1,2-diacyl-sn-glycero-3-phosphocholine"
FT /ligand_id="ChEBI:CHEBI:57643"
FT /evidence="ECO:0000250|UniProtKB:P33242"
FT BINDING 436
FT /ligand="1,2-diacylglycero-3-phosphoethanolamine"
FT /ligand_id="ChEBI:CHEBI:57613"
FT /evidence="ECO:0000269|PubMed:15897460"
FT BINDING 436
FT /ligand="a 1,2-diacyl-sn-glycero-3-phosphocholine"
FT /ligand_id="ChEBI:CHEBI:57643"
FT /evidence="ECO:0000250|UniProtKB:P33242"
FT BINDING 440
FT /ligand="1,2-diacylglycero-3-phosphoethanolamine"
FT /ligand_id="ChEBI:CHEBI:57613"
FT /evidence="ECO:0000269|PubMed:15897460"
FT BINDING 440
FT /ligand="a 1,2-diacyl-sn-glycero-3-phosphocholine"
FT /ligand_id="ChEBI:CHEBI:57643"
FT /evidence="ECO:0000250|UniProtKB:P33242"
FT MOD_RES 34
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000305|PubMed:11479297"
FT MOD_RES 38
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000305|PubMed:11479297"
FT MOD_RES 72
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000305|PubMed:11479297"
FT MOD_RES 203
FT /note="Phosphoserine; by CDK7"
FT /evidence="ECO:0000269|PubMed:10230405,
FT ECO:0000269|PubMed:17901130, ECO:0000269|PubMed:19015234"
FT CROSSLNK 119
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO)"
FT /evidence="ECO:0000269|PubMed:15192080"
FT CROSSLNK 194
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO)"
FT /evidence="ECO:0000269|PubMed:15192080"
FT VARIANT 15
FT /note="V -> M (in SRXY3; without adrenal failure;
FT dbSNP:rs104894124)"
FT /evidence="ECO:0000269|PubMed:17200175"
FT /id="VAR_063255"
FT VARIANT 18..22
FT /note="Missing (in SRXY3; loss of DNA-binding;
FT significantly decreased transactivator activity)"
FT /evidence="ECO:0000269|PubMed:28459839"
FT /id="VAR_079571"
FT VARIANT 33
FT /note="C -> S (in SRXY3; without adrenal failure; markedly
FT impaired transcriptional activity)"
FT /evidence="ECO:0000269|PubMed:17694559"
FT /id="VAR_039106"
FT VARIANT 35
FT /note="G -> E (in SRXY3; with adrenal failure;
FT dbSNP:rs121918654)"
FT /evidence="ECO:0000269|PubMed:10369247"
FT /id="VAR_004737"
FT VARIANT 40
FT /note="T -> P (in SRXY3; loss of DNA-binding; significantly
FT decreased transactivator activity)"
FT /evidence="ECO:0000269|PubMed:28459839"
FT /id="VAR_079572"
FT VARIANT 65
FT /note="C -> Y (in SRXY3; without adrenal failure)"
FT /evidence="ECO:0000269|PubMed:24405868"
FT /id="VAR_078136"
FT VARIANT 78
FT /note="M -> I (in SRXY3; without adrenal failure;
FT dbSNP:rs104894125)"
FT /evidence="ECO:0000269|PubMed:17200175"
FT /id="VAR_063256"
FT VARIANT 84
FT /note="R -> H (in SRXY3; without adrenal failure; markedly
FT impaired transcriptional activity; dbSNP:rs375469069)"
FT /evidence="ECO:0000269|PubMed:17694559"
FT /id="VAR_039107"
FT VARIANT 91
FT /note="G -> S (in SRXY3; without adrenal failure;
FT dbSNP:rs104894126)"
FT /evidence="ECO:0000269|PubMed:17200175"
FT /id="VAR_063257"
FT VARIANT 92
FT /note="R -> Q (in SRXY3, SRXX4 and AINR; decreased
FT transactivator activity; no effect on nuclear location;
FT dbSNP:rs104894119)"
FT /evidence="ECO:0000269|PubMed:11932325,
FT ECO:0000269|PubMed:26523528, ECO:0000269|PubMed:27490115,
FT ECO:0000269|PubMed:27855412"
FT /id="VAR_016982"
FT VARIANT 92
FT /note="R -> W (in SRXY3 and SRXX4; decreased transactivator
FT activity; loss of DNA binding, at least to some known
FT consensus target sequences; no effect on nuclear location;
FT dbSNP:rs886039769)"
FT /evidence="ECO:0000269|PubMed:27378692,
FT ECO:0000269|PubMed:27490115, ECO:0000269|PubMed:27610946"
FT /id="VAR_078137"
FT VARIANT 123
FT /note="G -> A (in SPGF8 and POF7; activity levels similar
FT to wild-type; dbSNP:rs200163795)"
FT /evidence="ECO:0000269|PubMed:19246354,
FT ECO:0000269|PubMed:20887963"
FT /id="VAR_062967"
FT VARIANT 129
FT /note="P -> L (in SPGF8 and POF7; loss of activity;
FT dbSNP:rs200749741)"
FT /evidence="ECO:0000269|PubMed:19246354,
FT ECO:0000269|PubMed:20887963"
FT /id="VAR_062968"
FT VARIANT 131
FT /note="P -> L (in SPGF8; impairs transactivational
FT activity; dbSNP:rs387906690)"
FT /evidence="ECO:0000269|PubMed:20887963"
FT /id="VAR_065866"
FT VARIANT 146
FT /note="G -> A (in dbSNP:rs1110061)"
FT /evidence="ECO:0000269|PubMed:17694559,
FT ECO:0000269|PubMed:19246354"
FT /id="VAR_039108"
FT VARIANT 191
FT /note="R -> C (in SPGF8; impairs transactivational
FT activity; dbSNP:rs1253324106)"
FT /evidence="ECO:0000269|PubMed:20887963"
FT /id="VAR_065867"
FT VARIANT 212
FT /note="G -> S (in SPGF8; impairs transactivational
FT activity; dbSNP:rs201095702)"
FT /evidence="ECO:0000269|PubMed:20887963"
FT /id="VAR_065868"
FT VARIANT 231..233
FT /note="Missing (in POF7)"
FT /evidence="ECO:0000269|PubMed:19246354"
FT /id="VAR_062969"
FT VARIANT 238
FT /note="D -> N (in SPGF8; impairs transactivational
FT activity; dbSNP:rs780568525)"
FT /evidence="ECO:0000269|PubMed:20887963"
FT /id="VAR_065869"
FT VARIANT 255
FT /note="R -> L (in AINR; dbSNP:rs104894118)"
FT /evidence="ECO:0000269|PubMed:11038323"
FT /id="VAR_016983"
FT VARIANT 293
FT /note="D -> N (in POF7; without adrenal failure; partial
FT loss of activity; dbSNP:rs121918655)"
FT /evidence="ECO:0000269|PubMed:19246354"
FT /id="VAR_062970"
FT VARIANT 437
FT /note="L -> Q (in SRXY3; without adrenal failure;
FT dbSNP:rs104894120)"
FT /evidence="ECO:0000269|PubMed:17200175"
FT /id="VAR_063258"
FT MUTAGEN 119
FT /note="K->R: Loss of sumoylation; when associated with R-
FT 194."
FT /evidence="ECO:0000269|PubMed:15192080"
FT MUTAGEN 194
FT /note="K->R: Loss of sumoylation."
FT /evidence="ECO:0000269|PubMed:15192080"
FT MUTAGEN 269
FT /note="A->F: Strongly reduced transactivation."
FT /evidence="ECO:0000269|PubMed:15897460"
FT MUTAGEN 341
FT /note="G->E: Reduced transactivation. Strongly reduced
FT transactivation; when associated with F-344."
FT /evidence="ECO:0000269|PubMed:15897460"
FT MUTAGEN 344
FT /note="L->F: Reduced transactivation. Strongly reduced
FT transactivation; when associated with E-341."
FT /evidence="ECO:0000269|PubMed:15897460"
FT MUTAGEN 433
FT /note="A->F: Strongly reduced transactivation."
FT /evidence="ECO:0000269|PubMed:15897460"
FT MUTAGEN 436
FT /note="Y->F: Loss of transactivation; when associated with
FT A-440."
FT /evidence="ECO:0000269|PubMed:15897460"
FT MUTAGEN 440
FT /note="K->A: Loss of transactivation; when associated with
FT F-436."
FT /evidence="ECO:0000269|PubMed:15897460"
FT CONFLICT 63
FT /note="K -> N (in Ref. 1; BAA13546)"
FT /evidence="ECO:0000305"
FT HELIX 225..233
FT /evidence="ECO:0007829|PDB:1ZDT"
FT HELIX 239..243
FT /evidence="ECO:0007829|PDB:1ZDT"
FT HELIX 262..282
FT /evidence="ECO:0007829|PDB:1ZDT"
FT HELIX 286..288
FT /evidence="ECO:0007829|PDB:1ZDT"
FT HELIX 291..317
FT /evidence="ECO:0007829|PDB:1ZDT"
FT STRAND 322..324
FT /evidence="ECO:0007829|PDB:1ZDT"
FT STRAND 326..328
FT /evidence="ECO:0007829|PDB:1YOW"
FT STRAND 330..332
FT /evidence="ECO:0007829|PDB:1ZDT"
FT HELIX 333..339
FT /evidence="ECO:0007829|PDB:1ZDT"
FT HELIX 342..360
FT /evidence="ECO:0007829|PDB:1ZDT"
FT HELIX 365..376
FT /evidence="ECO:0007829|PDB:1ZDT"
FT HELIX 381..383
FT /evidence="ECO:0007829|PDB:1ZDT"
FT HELIX 387..408
FT /evidence="ECO:0007829|PDB:1ZDT"
FT STRAND 411..413
FT /evidence="ECO:0007829|PDB:1ZDT"
FT HELIX 415..442
FT /evidence="ECO:0007829|PDB:1ZDT"
FT HELIX 451..456
FT /evidence="ECO:0007829|PDB:1ZDT"
SQ 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
