Citations for
1INSL3, NR2F2, NR5A1
The nuclear receptors SF1 and COUP-TFII cooperate on the Insl3 promoter in Leydig cells.
Di-Luoffo M, Pierre KJ, Robert NM, Girard MJ, Tremblay JJ.
Reproduction. Jun 27;164(2):31-40. doi: 10.1530/REP-22-0109. 2022
2EHD3, NR5A1
EHD3 positively regulated by NR5A1 participates in testosterone synthesis via endocytosis
Zhang L, Ding L, Li Y, Zhang F, Xu Y, Pan H, Wan X, Yan G, Yu F, Li R.
Life Sci. Aug 1;278:119570. doi: 10.1016/j.lfs.2021.119570. Epub 2021 May 5. 2021
3BMP15, NR5A1, NR5A2
Roles of NR5A1 and NR5A2 in the regulation of steroidogenesis by Clock gene and bone morphogenetic proteins by human granulosa cells.2021 PMID: .
Suyama A, Iwata N, Soejima Y, Nakano Y, Yamamoto K, Nada T, Otsuka F.
Endocr J. Nov 29;68(11):1283-1291. doi: 10.1507/endocrj.EJ21-0223. Epub 2021 Jun 26. 2021
4NR5A1
The conditional deletion of steroidogenic factor 1 (Nr5a1) in Sox9-Cre mice compromises testis differentiation
Ikeda Y, Tagami A, Maekawa M, Nagai A.
Sci Rep. Feb 24;11(1):4486. doi: 10.1038/s41598-021-84095-y. 2021
5NR5A1
Constitutive expression of Steroidogenic factor-1 (NR5A1) disrupts ovarian functions, fertility, and metabolic homeostasis in female mice
Rotgers E, Nicol B, Rodriguez K, Rattan S, Flaws JA, Yao HH.
FASEB J. Aug;35(8):e21770. doi: 10.1096/fj.202100304R 2021
6ATF3, NR5A1
Steroidogenic Factor 1 (NR5A1) Activates ATF3 Transcriptional Activity.
Emura N, Wang CM, Yang WH, Yang WH.
Int J Mol Sci. Feb 20;21(4):1429. doi: 10.3390/ijms21041429. 2020
7KLHL10, NANOS1, NR5A1, SEPT12, SYCP3, TEX11
Development of a novel next-generation sequencing panel for diagnosis of quantitative spermatogenic impairment.
Rocca MS, Msaki A, Ghezzi M, Cosci I, Pilichou K, Celeghin R, Foresta C, Ferlin A.
J Assist Reprod Genet. Apr;37(4):753-762. doi: 10.1007/s10815-020-01747-0. Epub 2020 Apr 3. 2020
8NR5A1, SRA3
Novel NR5A1 Pathogenic Variants Cause Phenotypic Heterogeneity in 46,XY Disorders of Sex Development.
Sudhakar DVS, Jaishankar S, Regur P, Kumar U, Singh R, Kabilan U, Namduri S, Dhyani J, Gupta NJ, Chakravarthy B, Vaman K, Shabir I, Khadgawat R, Deenadayal M, Chaitanya A D, Dada R, Sharma Y, Anand A, Thangaraj K.
Sex Dev. 13(4):178-186. doi: 10.1159/000505527. Epub 2020 Feb 1. 2019
9NR5A1
Steroidogenic Factor 1 (Nr5a1) is Required for Sertoli Cell Survival Post Sex Determination.
Anamthathmakula P, Miryala CSJ, Moreci RS, Kyathanahalli C, Hassan SS, Condon JC, Jeyasuria P.
Sci Rep. Mar 14;9(1):4452. doi: 10.1038/s41598-019-41051-1. 2019
10ESR1, NR5A1
Identification of a pituitary ERα-activated enhancer triggering the expression of Nr5a1, the earliest gonadotrope lineage-specific transcription factor.
Pacini V, Petit F, Querat B, Laverriere JN, Cohen-Tannoudji J, L'hôte D.
Epigenetics Chromatin. Aug 7;12(1):48. doi: 10.1186/s13072-019-0291-8. 2019
11NR5A1, SRA3
New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.
Werner R, Mönig I, Lünstedt R, Wünsch L, Thorns C, Reiz B, Krause A, Schwab KO, Binder G, Holterhus PM, Hiort O.
PLoS One. May 1;12(5):e0176720. doi: 10.1371/journal.pone.0176720. eCollection 2017. 2017
12FOXL2, NR5A1
FOXL2 Is an Essential Activator of SF-1-Induced Transcriptional Regulation of Anti-Müllerian Hormone in Human Granulosa Cells
Jin H, Won M, Park SE, Lee S, Park M, Bae J.
PLoS One. Jul 14;11(7):e0159112. doi: 10.1371/journal.pone.0159112. 2016
13NR5A1, SPGF8
Mutational screening of the NR5A1 in azoospermia.
Zare-Abdollahi D, Safari S, Mirfakhraie R, Movafagh A, Bastami M, Azimzadeh P, Salsabili N, Ebrahimizadeh W, Salami S, Omrani MD.
Andrologia. May;47(4):395-401. doi: 10.1111/and.12274. Epub 2014 Apr 20. 2015
14FDXR, NR5A1
Transcriptional regulation of human ferredoxin reductase through an intronic enhancer in steroidogenic cells.
Imamichi Y, Mizutani T, Ju Y, Matsumura T, Kawabe S, Kanno M, Yazawa T, Miyamoto K.
Biochim Biophys Acta 1839(1):33-42. doi: 10.1016/j.bbagrm.2013.11.005. Epub 2013 Dec 7. 2014
15NR5A1, SRA3
Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males.
Röpke A, Tewes AC, Gromoll J, Kliesch S, Wieacker P, Tüttelmann F.
Eur J Hum Genet 21(9):1012-5. doi: 10.1038/ejhg.2012.290. Epub 2013 Jan 9. 2013
16NR5A1, PRKDC
Steroidogenic factor 1 (NR5A1) maintains centrosome homeostasis in steroidogenic cells by restricting centrosomal DNA-dependent protein kinase activation.
Wang CY, Kao YH, Lai PY, Chen WY, Chung BC.
Mol Cell Biol 33(3):476-84. doi: 10.1128/MCB.01064-12. Epub 2012 Nov 19. 2013
17FDX1, NR5A1
Transcriptional regulation of human ferredoxin 1 in ovarian granulosa cells.
Imamichi Y, Mizutani T, Ju Y, Matsumura T, Kawabe S, Kanno M, Yazawa T, Miyamoto K.
Mol Cell Endocrinol 370(1-2):1-10. doi: 10.1016/j.mce.2013.02.012. Epub 2013 Feb 19. 2013
18CYP11A1, DAXX, HIPK3, NR5A1
Death-associated protein 6 (Daxx) mediates cAMP-dependent stimulation of Cyp11a1 (P450scc) transcription.
Lan HC, Wu CF, Shih HM, Chung BC.
J Biol Chem 287(8):5910-6. doi: 10.1074/jbc.M111.307603. Epub 2011 Dec 24. 2012
19FOXO1, NR5A1
FOXO1 in the ventromedial hypothalamus regulates energy balance.
Kim KW, Donato J Jr, Berglund ED, Choi YH, Kohno D, Elias CF, Depinho RA, Elmquist JK.
J Clin Invest 122(7):2578-89. doi: 10.1172/JCI62848. Epub 2012 Jun 1. 2012
20ASAH1, NR5A1
Acid ceramidase (ASAH1) represses steroidogenic factor 1-dependent gene transcription in H295R human adrenocortical cells by binding to the receptor.
Lucki NC, Li D, Bandyopadhyay S, Wang E, Merrill AH, Sewer MB.
Mol Cell Biol 32(21):4419-31. doi: 10.1128/MCB.00378-12. Epub 2012 Aug 27. 2012
21NR5A1, SOX9
SOX9 and SF1 are involved in cyclic AMP-mediated upregulation of anti-Mullerian gene expression in the testicular prepubertal Sertoli cell line SMAT1.
Lasala C, Schteingart HF, Arouche N, Bedecarrás P, Grinspon RP, Picard JY, Josso N, di Clemente N, Rey RA.
Am J Physiol Endocrinol Metab 301(3):E539-47. doi: 10.1152/ajpendo.00187.2011. Epub 2011 Jun 21. 2011
22NR5A1
Steroidogenic factor 1 directs programs regulating diet-induced thermogenesis and leptin action in the ventral medial hypothalamic nucleus.
Kim KW, Zhao L, Donato J Jr, Kohno D, Xu Y, Elias CF, Lee C, Parker KL, Elmquist JK.
Proc Natl Acad Sci U S A 108(26):10673-8. Epub 2011 Jun 2. 2011
23BARD1, NR5A1
BRCA1/BARD1 complex interacts with steroidogenic factor 1--A potential mechanism for regulation of aromatase expression by BRCA1.
Lu Y, Kang T, Hu Y.
J Steroid Biochem Mol Biol 123(1-2):71-8. doi: 10.1016/j.jsbmb.2010.11.006. Epub 2010 Nov 16. 2011
24NR5A1
Steroidogenic Factor 1 (NR5A1) resides in centrosomes and maintains genomic stability by controlling centrosome homeostasis.
Lai PY, Wang CY, Chen WY, Kao YH, Tsai HM, Tachibana T, Chang WC, Chung BC.
Cell Death Differ 18(12):1836-44. doi: 10.1038/cdd.2011.54. Epub 2011 May 13. 2011
25NR5A1, SOX9, SRY, TES
Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.
Knower KC, Kelly S, Ludbrook LM, Bagheri-Fam S, Sim H, Bernard P, Sekido R, Lovell-Badge R, Harley VR.
PLoS One 6(3):e17751. doi: 10.1371/journal.pone.0017751. 2011
26NR5A1, POF4, SRA3
Update - Steroidogenic factor 1 (SF-1, NR5A1).
Köhler B, Achermann JC.
Minerva Endocrinol 35(2):73-86.PMID: 20595937 2010
27NR5A1, NR5A2, STAR
Identification of a novel distal control region upstream of the human steroidogenic acute regulatory protein (StAR) gene that participates in SF-1-dependent chromatin architecture.
Mizutani T, Yazawa T, Ju Y, Imamichi Y, Uesaka M, Inaoka Y, Matsuura K, Kamiki Y, Oki M, Umezawa A, Miyamoto K.
J Biol Chem 285(36):28240-51. Epub 2010 Jul 3. 2010
28NR5A1, SPGF8
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1
Bashamboo A, Ferraz-de-Souza B, Lourenço D, Lin L, Sebire NJ, Montjean D, Bignon-Topalovic J, Mandelbaum J, Siffroi JP, Christin-Maitre S, Radhakrishna U, Rouba H, Ravel C, Seeler J, Achermann JC, McElreavey K.
Am J Hum Genet. Oct 8;87(4):505-12. doi: 10.1016/j.ajhg.2010.09.009. Erratum in: Am J Hum Genet. 2010 Nov 12;87(5):736. 2010
29NR5A1, SF1
Dax-1 and steroid receptor RNA activator (SRA) function as transcriptional coactivators for steroidogenic factor 1 in steroidogenesis
Xu B, Yang WH, Gerin I, Hu CD, Hammer GD, Koenig RJ.
Mol Cell Biol. 29(7):1719-34 2009
30DEL9Q33, NR5A1
A unique 970kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female.
van Silfhout A, Boot AM, Dijkhuizen T, Hoek A, Nijman R, Sikkema-Raddatz B, van Ravenswaaij-Arts CM.
Eur J Med Genet 52(2-3):157-60. Epub 2009 Mar 6. 2009
31CITED2, NR5A1, SRY, WT1
The transcription co-factor CITED2 functions during sex determination and early gonad development.
Buaas FW, Val P, Swain A.
Hum Mol Genet 18(16):2989-3001. Epub 2009 May 20.PMID: 19457926 2009
32NR5A1, POF4, SRA3
Mutations in NR5A1 associated with ovarian insufficiency.
Lourenço D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K, Bashamboo A.
N Engl J Med 360(12):1200-10. Epub 2009 Feb 25. 2009
33CYP11B1, CYP11B2, NR5A1
Differential effects of high and low steroidogenic factor-1 expression on CYP11B2 expression and aldosterone production in adrenocortical cells.
Ye P, Nakamura Y, Lalli E, Rainey WE.
Endocrinology 150(3):1303-9. Epub 2008 Oct 30.PMID: 18974272 2009
34NR5A1, NR5A2
Liver receptor homolog-1 regulates the transcription of steroidogenic enzymes and induces the differentiation of mesenchymal stem cells into steroidogenic cells.
Yazawa T, Inanoka Y, Mizutani T, Kuribayashi M, Umezawa A, Miyamoto K.
Endocrinology 150(8):3885-93. Epub 2009 Apr 9.PMID: 19359379 2009
35MAMLD1, HES3, NR5A1
Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence.
Fukami M, Wada Y, Okada M, Kato F, Katsumata N, Baba T, Morohashi K, Laporte J, Kitagawa M, Ogata T.
J Biol Chem 283(9):5525-32. Epub 2007 Dec 27. 2008
36NR5A1, SF1
Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer.
Sekido, R.; Lovell-Badge, R.
Nature 453: 930-934 2008
37AMH, NR0B1, NR5A1, SOX9
Up-regulation of SOX9 in human sex-determining region on the Y chromosome (SRY)-negative XX males.
Kojima Y, Hayashi Y, Mizuno K, Sasaki S, Fukui Y, Koopman P, Morohashi K, Kohri K.
Clin Endocrinol (Oxf) 68(5):791-9. Epub 2007 Nov 6.PMID: 17986281 2008
38NR5A1
Liver receptor homolog 1 transcriptionally regulates human bile salt export pump expression.
Song X, Kaimal R, Yan B, Deng R.
J Lipid Res 49(5):973-84. Epub 2008 Feb 12.PMID: 18270374 2008
39ADAMTS6, JOSD1, KIAA1257, NR5A1, SOX15, TEAD4
Identification of NR5A1 (SF-1/AD4BP) gene expression modulators by large-scale gain and loss of function studies.
Sakai N, Terami H, Suzuki S, Haga M, Nomoto K, Tsuchida N, Morohashi K, Saito N, Asada M, Hashimoto M, Harada D, Asahara H, Ishikawa T, Shimada F, Sakurada K.
J Endocrinol 198(3):489-97. doi: 10.1677/JOE-08-0027. Epub 2008 Jun 25. 2008
40NPS1, LMX1B, NR5A1
Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of genitopatellar syndrome.
Schlaubitz S, Yatsenko SA, Smith LD, Keller KL, Vissers LE, Scott DA, Cai WW, Reardon W, Abdul-Rahman OA, Lammer EJ, Lifchez CA, Magenis E, Veltman JA, Stankiewicz P, Zabel BU, Lee B.
Am J Med Genet A 143(10):1071-81. 2007
41NR5A1, SF1
Transcriptional activation of steroidogenic factor-1 by hypomethylation of the 5' CpG island in endometriosis
Xue Q, Lin Z, Yin P, Milad MP, Cheng YH, Confino E, Reierstad S, Bulun SE
J Clin Endocrinol Metab. 92(8):3261-7 2007
42EID1, NR5A1
EID-1 interacts with orphan nuclear receptor SF-1 and represses its transactivation.
Park YY, Park KC, Shong M, Lee SJ, Lee YH, Choi HS.
Mol Cells 24(3):372-7.PMID: 18182853 2007
43DHH, NR5A1
Distinct roles for steroidogenic factor 1 and desert hedgehog pathways in fetal and adult Leydig cell development.
Park SY, Tong M, Jameson JL.
Endocrinology 148(8):3704-10. Epub 2007 May 10. 2007
44NR0B1, NR5A1, SRA3, DSS
Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.
Lin L, Gu WX, Ozisik G, To WS, Owen CJ, Jameson JL, Achermann JC.
J Clin Endocrinol Metab 91(8):3048-54. Epub 2006 May 9. 2006
45CYP1B1, CREB1, NR5A1
Binding of steroidogenic factor-1 to the regulatory region might not be critical for transcriptional regulation of the human CYP1B1 gene.
Tsuchiya Y, Nakajima M, Takagi S, Katoh M, Zheng W, Jefcoate CR, Yokoi T.
J Biochem 139(3):527-34. 2006
46NR0B1, NR5A1, DSS, AHC
Molecular mechanisms of DAX1 action.
Iyer AK, McCabe ER.
Mol Genet Metab 83(1-2):60-73. 2004
47NR5A1, SRA3
Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiency.
Mallet D, Bretones P, Michel-Calemard L, Dijoud F, David M, Morel Y.
J Clin Endocrinol Metab 89(10):4829-32. 2004
48COL11A2, COL9A2, NR5A1, SOX9
Dimerization of SOX9 is required for chondrogenesis, but not for sex determination.
Bernard P, Tang P, Liu S, Dewing P, Harley VR, Vilain E.
Hum Mol Genet 12(14):1755-65. 2003
49NR0B1, NR5A1
Down-regulation of steroidogenic response to gonadotropins in human and rat preovulatory granulosa cells involves mitogen-activated protein kinase activation and modulation of DAX-1 and steroidogenic factor-1.
Tajima K, Dantes A, Yao Z, Sorokina K, Kotsuji F, Seger R, Amsterdam A.
J Clin Endocrinol Metab 88(5):2288-99. 2003
50NR0B1, NR2F2, NR5A1
Immunolocalization of nuclear transcription factors, DAX-1 and COUP-TF II, in the normal human ovary: correlation with adrenal 4 binding protein/steroidogenic factor-1 immunolocalization during the menstrual cycle.
Sato Y, Suzuki T, Hidaka K, Sato H, Ito K, Ito S, Sasano H.
J Clin Endocrinol Metab 88(7):3415-20. 2003
51CYP11A1, CYP11B1, CYP11B2, CYP17A1D, CYP19A1, GATA4, NR0B1, NR2F1, NR2F2, NR5A1, PCNA, COPS2
DAX1 and its network partners: exploring complexity in development.
Clipsham R, McCabe ER.
Mol Genet Metab 80(1-2):81-120. 2003
52NR5A1, SRA3
The role of SF1 in adrenal and reproductive function: insight from naturally occurring mutations in humans.
Ozisik G, Achermann JC, Jameson JL.
Mol Genet Metab 76(2):85-91. Review. 2002
53NR5A1, SF1
The transcriptional regulating protein of 132 kDa (TReP-132) enhances P450scc gene transcription through interaction with steroidogenic factor-1 in human adrenal cells.
Gizard, F.; Lavallee, B.; DeWitte, F.; Teissier, E.; Staels, B.; Hum, D. W.
J. Biol. Chem. 277: 39144-39155 2002
54NR0B1, NR5A1
Transcriptional regulators of steroidogenesis, DAX-1 and SF-1, are expressed in human skin.
Patel MV, McKay IA, Burrin JM.
J Invest Dermatol 117(6):1559-65. 2001
55NR0B1, NR5A1, DSS, AHC, NR5A1, SRA3
Phenotypic spectrum of mutations in DAX-1 and SF-1.
Achermann JC, Meeks JJ, Jameson JL.
Mol Cell Endocrinol 185(1-2):17-25. Review. 2001
56DDX20, NR5A1
The DEAD box protein DP103 is a regulator of steroidogenic factor-1.
Ou Q, Mouillet JF, Yan X, Dorn C, Crawford PA, Sadovsky Y.
Mol Endocrinol 15(1):69-79. 2001
57NR5A1
Transcriptional regulation of the human FTZ-F1 gene encoding Ad4BP/SF-1.
Oba K, Yanase T, Ichino I, Goto K, Takayanagi R, Nawata H.
J Biochem (Tokyo) 128(3):517-28. 2000
58NR5A1, SRA3
Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency.
Biason-Lauber A, Schoenle EJ.
Am J Hum Genet 67(6):1563-8. 2000
59NR5A1
Identification of novel first exons in Ad4BP/SF-1 (NR5A1) gene and their tissue- and species-specific usage.
Kimura R, Yoshii H, Nomura M, Kotomura N, Mukai T, Ishihara S, Ohba K, Yanase T, Gotoh O, Nawata H, Morohashi K.
Biochem Biophys Res Commun 278(1):63-71. 2000
60NR5A1, SRA3
A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans.
Achermann JC, et al.
Nat Genet 22(2):125-6. No abstract available 1999
61NR5A1
Human Ad4BP/SF-1 and its related nuclear receptor.
Nawata H, et al.
J Steroid Biochem Mol Biol 69(1-6):323-8. Review 1999
62NR0B1, NR5A1
Dax-1 as one of the target genes of Ad4BP/SF-1.
Kawabe K, Shikayama T, Tsuboi H, Oka S, Oba K, Yanase T, Nawata H, Morohashi K.
Mol Endocrinol 13(8):1267-84 1999
63NR5A1, SF1
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
64NR0B2, DDS, NR5A1, WT1
Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression.
Nachtigal MW, et al.
Cell 93 : 445-454. 1998
65NR5A1, SF1
The basic helix-loop-helix, leucine zipper transcription factor, USF (upstream stimulatory factor), is a key regulator of SF-1 (steroidogenic factor-1) gene expression in pituitary gonadotrope and steroidogenic cells
Harris, A. N.; Mellon, P. L.
Molec. Endocr. 12: 714-726 1998
66NR0B2, NR5A1
DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita.
Ito M, et al.
Mol Cell Biol 17 : 1476-1483. 1997
67NR5A1
Cloning and sequence analysis of the human gene encoding steroidogenic factor 1.
Wong M, et al.
J Mol Endocrinol 17 : 139-147. 1996
68NR5A1, SF1
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
69NR5A1
Homologs of Drosophila Fushi-Tarazu factor 1 map to mouse chromosome 2 and human chromosome 9q33.
Taketo M, et al.
Genomics 25 : 565-567. 1995
70NR5A1
Nuclear receptor steroidogenic factor 1 regulates the mullerian inhibiting substance gene: a link to the sex determination cascade.
Shen WH, Moore CC, Ikeda Y, Parker KL, Ingraham HA.
Cell 77(5):651-61. 1994
71NR5A1, SF1
A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation
Luo, X.; Ikeda, Y.; Parker, K. L.
Cell 77: 481-490 1994
72NR5A1, SF1
Nuclear receptor steroidogenic factor 1 regulates the mullerian inhibiting substance gene: a link to the sex determination cascade
Shen, W.-H.; Moore, C. C. D.; Ikeda, Y.; Parker, K. L.; Ingraham, H. A.
Cell 77: 651-661 1994