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Gene Review

NR5A1  -  nuclear receptor subfamily 5, group A,...

Homo sapiens

Synonyms: AD4BP, Adrenal 4-binding protein, ELP, FTZ1, FTZF1, ...
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Disease relevance of NR5A1


Psychiatry related information on NR5A1

  • In the ovary, SF-1 and WT1 transcripts persist in the gonadal ridge from the earliest developmental stages throughout the critical period of sex determination [5].

High impact information on NR5A1


Chemical compound and disease context of NR5A1

  • In corpus albicans, all the cells were replaced by fibrosis and steroidogenic enzymes; steroid receptors and Ad4BP were not expressed at all [9].

Biological context of NR5A1


Anatomical context of NR5A1


Associations of NR5A1 with chemical compounds

  • Steroidogenic factor (SF1, Ad4BP, NR5A1) is a nuclear receptor that is essential for steroid hormone biosynthesis and endocrine development [19].
  • This complex is sensitive to the SF-1 antagonist sphingosine and results in decreased transcription of CYP17 [20].
  • Chromatin immunoprecipitation (ChIP) assays demonstrate that dexamethasone treatment increases GR and SF-1 binding to the endogenous murine Dax-1 promoter 10- and 3.5-fold over baseline [12].
  • LRH-1 did not augment FSH-stimulated estrogen production, whereas SF-1 produced only a slight ( approximately 30%) augmentation of FSH-stimulated estrogen production [3].
  • Activating protein-1 cooperates with steroidogenic factor-1 to regulate 3',5'-cyclic adenosine 5'-monophosphate-dependent human CYP11A1 transcription in vitro and in vivo [21].
  • Inhibition of DGK activity attenuates the binding of SF1 to the CYP17 promoter, and silencing of DGK-theta expression inhibits cAMP-dependent CYP17 transcription [22].

Physical interactions of NR5A1


Regulatory relationships of NR5A1


Other interactions of NR5A1


Analytical, diagnostic and therapeutic context of NR5A1


  1. Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency. Biason-Lauber, A., Schoenle, E.J. Am. J. Hum. Genet. (2000) [Pubmed]
  2. Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience. Lin, L., Gu, W.X., Ozisik, G., To, W.S., Owen, C.J., Jameson, J.L., Achermann, J.C. J. Clin. Endocrinol. Metab. (2006) [Pubmed]
  3. Liver receptor homolog-1 and steroidogenic factor-1 have similar actions on rat granulosa cell steroidogenesis. Saxena, D., Escamilla-Hernandez, R., Little-Ihrig, L., Zeleznik, A.J. Endocrinology (2007) [Pubmed]
  4. Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome. Coutant, R., Mallet, D., Lahlou, N., Bouhours-Nouet, N., Guichet, A., Coupris, L., Croué, A., Morel, Y. J. Clin. Endocrinol. Metab. (2007) [Pubmed]
  5. Expression of steroidogenic factor 1 and Wilms' tumour 1 during early human gonadal development and sex determination. Hanley, N.A., Ball, S.G., Clement-Jones, M., Hagan, D.M., Strachan, T., Lindsay, S., Robson, S., Ostrer, H., Parker, K.L., Wilson, D.I. Mech. Dev. (1999) [Pubmed]
  6. Molecular biology of the 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family. Simard, J., Ricketts, M.L., Gingras, S., Soucy, P., Feltus, F.A., Melner, M.H. Endocr. Rev. (2005) [Pubmed]
  7. Involvement of Splicing Factor-1 in beta-Catenin/T-Cell Factor-4-Mediated Gene Transactivation and Pre-mRNA Splicing. Shitashige, M., Naishiro, Y., Idogawa, M., Honda, K., Ono, M., Hirohashi, S., Yamada, T. Gastroenterology (2007) [Pubmed]
  8. Endogenous expression of Müllerian inhibiting substance in early postnatal rat sertoli cells requires multiple steroidogenic factor-1 and GATA-4-binding sites. Watanabe, K., Clarke, T.R., Lane, A.H., Wang, X., Donahoe, P.K. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  9. Localization of steroidogenesis and steroid receptors in human corpus luteum. Classification of human corpus luteum (CL) into estrogen-producing degenerating CL, and nonsteroid-producing degenerating CL. Sasano, H., Suzuki, T. Semin. Reprod. Endocrinol. (1997) [Pubmed]
  10. Translin coactivates steroidogenic factor-1-stimulated transcription. Mellon, S.H., Bair, S.R., Depoix, C., Vigne, J.L., Hecht, N.B., Brake, P.B. Mol. Endocrinol. (2007) [Pubmed]
  11. Protein kinase A potentiates adrenal 4 binding protein/steroidogenic factor 1 transactivation by reintegrating the subcellular dynamic interactions of the nuclear receptor with its cofactors, general control nonderepressed-5/transformation/transcription domain-associated protein, and suppressor, dosage-sensitive sex reversal-1: a laser confocal imaging study in living KGN cells. Fan, W., Yanase, T., Wu, Y., Kawate, H., Saitoh, M., Oba, K., Nomura, M., Okabe, T., Goto, K., Yanagisawa, J., Kato, S., Takayanagi, R., Nawata, H. Mol. Endocrinol. (2004) [Pubmed]
  12. Reciprocal regulation of a glucocorticoid receptor-steroidogenic factor-1 transcription complex on the dax-1 promoter by glucocorticoids and adrenocorticotropic hormone in the adrenal cortex. Gummow, B.M., Scheys, J.O., Cancelli, V.R., Hammer, G.D. Mol. Endocrinol. (2006) [Pubmed]
  13. Generation of two distinct functional isoforms of dosage-sensitive sex reversal-adrenal hypoplasia congenita-critical region on the X chromosome gene 1 (DAX-1) by alternative splicing. Hossain, A., Li, C., Saunders, G.F. Mol. Endocrinol. (2004) [Pubmed]
  14. The orphan nuclear receptor, liver receptor homolog-1, regulates cholesterol side-chain cleavage cytochrome p450 enzyme in human granulosa cells. Kim, J.W., Havelock, J.C., Carr, B.R., Attia, G.R. J. Clin. Endocrinol. Metab. (2005) [Pubmed]
  15. SF1 in the development of the adrenal gland and gonads. Ozisik, G., Achermann, J.C., Meeks, J.J., Jameson, J.L. Horm. Res. (2003) [Pubmed]
  16. Tissue-specific mRNA expression profiles of human nuclear receptor subfamilies. Nishimura, M., Naito, S., Yokoi, T. Drug Metab. Pharmacokinet. (2004) [Pubmed]
  17. 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. (2003) [Pubmed]
  18. GATA-6 is expressed in the human adrenal and regulates transcription of genes required for adrenal androgen biosynthesis. Jimenez, P., Saner, K., Mayhew, B., Rainey, W.E. Endocrinology (2003) [Pubmed]
  19. Sphingosine Regulates the Transcription of CYP17 by Binding to Steroidogenic Factor-1. Urs, A.N., Dammer, E., Sewer, M.B. Endocrinology (2006) [Pubmed]
  20. Coregulator Exchange and Sphingosine-Sensitive Cooperativity of Steroidogenic Factor-1, General Control Nonderepressed 5, p54, and p160 Coactivators Regulate Cyclic Adenosine 3',5'-Monophosphate-Dependent Cytochrome P450c17 Transcription Rate. Dammer, E.B., Leon, A., Sewer, M.B. Mol. Endocrinol. (2007) [Pubmed]
  21. Activating protein-1 cooperates with steroidogenic factor-1 to regulate 3',5'-cyclic adenosine 5'-monophosphate-dependent human CYP11A1 transcription in vitro and in vivo. Guo, I.C., Huang, C.Y., Wang, C.K., Chung, B.C. Endocrinology (2007) [Pubmed]
  22. Cyclic AMP-stimulated interaction between steroidogenic factor 1 and diacylglycerol kinase theta facilitates induction of CYP17. Li, D., Urs, A.N., Allegood, J., Leon, A., Merrill, A.H., Sewer, M.B. Mol. Cell. Biol. (2007) [Pubmed]
  23. Three steroidogenic factor-1 binding elements are required for constitutive and cAMP-regulated expression of the human adrenocorticotropin receptor gene. Naville, D., Penhoat, A., Durand, P., Begeot, M. Biochem. Biophys. Res. Commun. (1999) [Pubmed]
  24. Transcriptional activation of human CYP17 in H295R adrenocortical cells depends on complex formation among p54(nrb)/NonO, protein-associated splicing factor, and SF-1, a complex that also participates in repression of transcription. Sewer, M.B., Nguyen, V.Q., Huang, C.J., Tucker, P.W., Kagawa, N., Waterman, M.R. Endocrinology (2002) [Pubmed]
  25. Association of Lys173Arg polymorphism with CYP11B2 expression in normal adrenal glands and aldosterone-producing adenomas. Tanahashi, H., Mune, T., Takahashi, Y., Isaji, M., Suwa, T., Morita, H., Yamakita, N., Yasuda, K., Deguchi, T., White, P.C., Takeda, J. J. Clin. Endocrinol. Metab. (2005) [Pubmed]
  26. Inhibition of androgen receptor (AR) function by the reproductive orphan nuclear receptor DAX-1. Holter, E., Kotaja, N., Mäkela, S., Strauss, L., Kietz, S., Jänne, O.A., Gustafsson, J.A., Palvimo, J.J., Treuter, E. Mol. Endocrinol. (2002) [Pubmed]
  27. Steroid sulfotransferase 2A1 gene transcription is regulated by steroidogenic factor 1 and GATA-6 in the human adrenal. Saner, K.J., Suzuki, T., Sasano, H., Pizzey, J., Ho, C., Strauss, J.F., Carr, B.R., Rainey, W.E. Mol. Endocrinol. (2005) [Pubmed]
  28. The LIM-homeodomain proteins Isl-1 and Lhx3 act with steroidogenic factor 1 to enhance gonadotrope-specific activity of the gonadotropin-releasing hormone receptor gene promoter. Granger, A., Bleux, C., Kottler, M.L., Rhodes, S.J., Counis, R., Laverrière, J.N. Mol. Endocrinol. (2006) [Pubmed]
  29. Activation of the rat follicle-stimulating hormone receptor promoter by steroidogenic factor 1 is blocked by protein kinase a and requires upstream stimulatory factor binding to a proximal E box element. Heckert, L.L. Mol. Endocrinol. (2001) [Pubmed]
  30. Ad4BP/SF-1 regulates cyclic AMP-induced transcription from the proximal promoter (PII) of the human aromatase P450 (CYP19) gene in the ovary. Michael, M.D., Kilgore, M.W., Morohashi, K., Simpson, E.R. J. Biol. Chem. (1995) [Pubmed]
  31. Regulation of cytochrome b5 gene transcription by Sp3, GATA-6, and steroidogenic factor 1 in human adrenal NCI-H295A cells. Huang, N., Dardis, A., Miller, W.L. Mol. Endocrinol. (2005) [Pubmed]
  32. Involvement of AP-1 and steroidogenic factor (SF)-1 in the cAMP-dependent induction of human adrenocorticotropic hormone receptor (ACTHR) promoter. Sarkar, D., Kambe, F., Hayashi, Y., Ohmori, S., Funahashi, H., Seo, H. Endocr. J. (2000) [Pubmed]
  33. Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation. Brown, P., Scobie, G.A., Townsend, J., Bayne, R.A., Seckl, J.R., Saunders, P.T., Anderson, R.A. J. Clin. Endocrinol. Metab. (2003) [Pubmed]
  34. Homologs of Drosophila Fushi-Tarazu factor 1 map to mouse chromosome 2 and human chromosome 9q33. Taketo, M., Parker, K.L., Howard, T.A., Tsukiyama, T., Wong, M., Niwa, O., Morton, C.C., Miron, P.M., Seldin, M.F. Genomics (1995) [Pubmed]
  35. Expression and regulation of transcripts encoding two members of the NR5A nuclear receptor subfamily of orphan nuclear receptors, steroidogenic factor-1 and NR5A2, in equine ovarian cells during the ovulatory process. Boerboom, D., Pilon, N., Behdjani, R., Silversides, D.W., Sirois, J. Endocrinology (2000) [Pubmed]
  36. Role of transcription factors Ad4bp/SF-1 and DAX-1 in steroidogenesis and spermatogenesis in human testicular development and idiopathic azoospermia. Kojima, Y., Sasaki, S., Hayashi, Y., Umemoto, Y., Morohashi, K., Kohri, K. International journal of urology : official journal of the Japanese Urological Association. (2006) [Pubmed]
  37. IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. Vilain, E., Le Merrer, M., Lecointre, C., Desangles, F., Kay, M.A., Maroteaux, P., McCabe, E.R. J. Clin. Endocrinol. Metab. (1999) [Pubmed]
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