2pnu is a 1 chain structure with sequence from Human. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
[ANDR_HUMAN] Defects in AR are the cause of androgen insensitivity syndrome (AIS) [MIM:300068]; previously known as testicular feminization syndrome (TFM). AIS is an X-linked recessive form of pseudohermaphroditism due end-organ resistance to androgen. Affected males have female external genitalia, female breast development, blind vagina, absent uterus and female adnexa, and abdominal or inguinal testes, despite a normal 46,XY karyotype.[1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21] [:][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43][44][45][46][47][48][49][50][51][52][53][54][55][56][57][58] [:][59][60][61][62][63][64][65][66][67][68][69][70][71] Defects in AR are the cause of spinal and bulbar muscular atrophy X-linked type 1 (SMAX1) [MIM:313200]; also known as Kennedy disease. SMAX1 is an X-linked recessive form of spinal muscular atrophy. Spinal muscular atrophy refers to a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAX1 occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. It is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia. The disorder is clinically similar to classic forms of autosomal spinal muscular atrophy. Note=Caused by trinucleotide CAG repeat expansion. In SMAX1 patients the number of Gln ranges from 38 to 62. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.[72] Note=Defects in AR may play a role in metastatic prostate cancer. The mutated receptor stimulates prostate growth and metastases development despite of androgen ablation. This treatment can reduce primary and metastatic lesions probably by inducing apoptosis of tumor cells when they express the wild-type receptor. Defects in AR are the cause of androgen insensitivity syndrome partial (PAIS) [MIM:312300]; also known as Reifenstein syndrome. PAIS is characterized by hypospadias, hypogonadism, gynecomastia, genital ambiguity, normal XY karyotype, and a pedigree pattern consistent with X-linked recessive inheritance. Some patients present azoospermia or severe oligospermia without other clinical manifestations.
Function
[ANDR_HUMAN] Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Transcription factor activity is modulated by bound coactivator and corepressor proteins. Transcription activation is down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 and ZIPK/DAPK3.[73][74][75][76][77][78][79]
Evolutionary Conservation
Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.
Publication Abstract from PubMed
Antiandrogens are commonly used to treat androgen-dependent disorders. The currently used drugs unfortunately possess very weak affinity for the human AR (hAR), thus indicating the need to develop new high-affinity steroidal antiandrogens. Our compounds are specially designed to impede repositioning of the mobile carboxyl-terminal helix 12, which blocks the ligand-dependent transactivation function (AF-2) located in the AR ligand-binding domain (ARLBD). Using crystal structures of the hARLBD, we first found that H12 could be directly reached from the ligand-binding pocket (LBP) by a chain positioned on the C18 atom of an androgen steroid nucleus. A set of 5alpha-dihydrotestosterone-derived molecules bearing various C18 chains were thus synthesized and tested for their capacity to bind hAR and act as antagonists. Although most of those having very high affinity for hAR were agonists, several very potent antagonists were obtained, confirming the structural importance of the C18 chain. To understand the role of the C18 chain in their agonistic/antagonistic properties, the structure of the hARLBD complexed with one of these agonists, EM5744, was determined at a 1.65-A resolution. We have identified new interactions involving Gln(738), Met(742), and His(874) that explain both the high affinity of this compound and the inability of its bulky chain to prevent the repositioning of H12. This structural information will be helpful to refine the structure of the chains placed on the C18 atom to obtain efficient H12-directed steroidal antiandrogens.
Structural characterization of the human androgen receptor ligand-binding domain complexed with EM5744, a rationally designed steroidal ligand bearing a bulky chain directed toward helix 12.,Cantin L, Faucher F, Couture JF, de Jesus-Tran KP, Legrand P, Ciobanu LC, Frechette Y, Labrecque R, Singh SM, Labrie F, Breton R J Biol Chem. 2007 Oct 19;282(42):30910-9. Epub 2007 Aug 21. PMID:17711855[80]
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.
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↑Mowszowicz I, Lee HJ, Chen HT, Mestayer C, Portois MC, Cabrol S, Mauvais-Jarvis P, Chang C. A point mutation in the second zinc finger of the DNA-binding domain of the androgen receptor gene causes complete androgen insensitivity in two siblings with receptor-positive androgen resistance. Mol Endocrinol. 1993 Jul;7(7):861-9. PMID:8413310
↑Ris-Stalpers C, Trifiro MA, Kuiper GG, Jenster G, Romalo G, Sai T, van Rooij HC, Kaufman M, Rosenfield RL, Liao S, et al.. Substitution of aspartic acid-686 by histidine or asparagine in the human androgen receptor leads to a functionally inactive protein with altered hormone-binding characteristics. Mol Endocrinol. 1991 Oct;5(10):1562-9. PMID:1775137
↑Bohl CE, Miller DD, Chen J, Bell CE, Dalton JT. Structural basis for accommodation of nonsteroidal ligands in the androgen receptor. J Biol Chem. 2005 Nov 11;280(45):37747-54. Epub 2005 Aug 29. PMID:16129672 doi:https://dx.doi.org/10.1074/jbc.M507464200
↑Brown TR, Lubahn DB, Wilson EM, French FS, Migeon CJ, Corden JL. Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity. Mol Endocrinol. 1990 Dec;4(12):1759-72. PMID:2082179
↑Marcelli M, Zoppi S, Grino PB, Griffin JE, Wilson JD, McPhaul MJ. A mutation in the DNA-binding domain of the androgen receptor gene causes complete testicular feminization in a patient with receptor-positive androgen resistance. J Clin Invest. 1991 Mar;87(3):1123-6. PMID:1999491 doi:https://dx.doi.org/10.1172/JCI115076
↑Prior L, Bordet S, Trifiro MA, Mhatre A, Kaufman M, Pinsky L, Wrogeman K, Belsham DD, Pereira F, Greenberg C, et al.. Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes. Am J Hum Genet. 1992 Jul;51(1):143-55. PMID:1609793
↑Sweet CR, Behzadian MA, McDonough PG. A unique point mutation in the androgen receptor gene in a family with complete androgen insensitivity syndrome. Fertil Steril. 1992 Oct;58(4):703-7. PMID:1426313
↑Jakubiczka S, Werder EA, Wieacker P. Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS). Hum Genet. 1992 Nov;90(3):311-2. PMID:1487249
↑Batch JA, Williams DM, Davies HR, Brown BD, Evans BA, Hughes IA, Patterson MN. Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. Hum Mol Genet. 1992 Oct;1(7):497-503. PMID:1307250
↑Nakao R, Haji M, Yanase T, Ogo A, Takayanagi R, Katsube T, Fukumaki Y, Nawata H. A single amino acid substitution (Met786----Val) in the steroid-binding domain of human androgen receptor leads to complete androgen insensitivity syndrome. J Clin Endocrinol Metab. 1992 May;74(5):1152-7. PMID:1569163
↑Wilson CM, Griffin JE, Wilson JD, Marcelli M, Zoppi S, McPhaul MJ. Immunoreactive androgen receptor expression in subjects with androgen resistance. J Clin Endocrinol Metab. 1992 Dec;75(6):1474-8. PMID:1464650
↑McPhaul MJ, Marcelli M, Zoppi S, Wilson CM, Griffin JE, Wilson JD. Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene. J Clin Invest. 1992 Nov;90(5):2097-101. PMID:1430233 doi:https://dx.doi.org/10.1172/JCI116093
↑Zoppi S, Marcelli M, Deslypere JP, Griffin JE, Wilson JD, McPhaul MJ. Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance. Mol Endocrinol. 1992 Mar;6(3):409-15. PMID:1316540
↑De Bellis A, Quigley CA, Cariello NF, el-Awady MK, Sar M, Lane MV, Wilson EM, French FS. Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: rapid detection by a modified denaturing gradient gel electrophoresis technique. Mol Endocrinol. 1992 Nov;6(11):1909-20. PMID:1480178
↑Lumbroso S, Lobaccaro JM, Belon C, Martin D, Chaussain JL, Sultan C. A new mutation within the deoxyribonucleic acid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome. Fertil Steril. 1993 Nov;60(5):814-9. PMID:8224266
↑Lobaccaro JM, Lumbroso S, Ktari R, Dumas R, Sultan C. An exonic point mutation creates a MaeIII site in the androgen receptor gene of a family with complete androgen insensitivity syndrome. Hum Mol Genet. 1993 Jul;2(7):1041-3. PMID:8103398
↑Adeyemo O, Kallio PJ, Palvimo JJ, Kontula K, Janne OA. A single-base substitution in exon 6 of the androgen receptor gene causing complete androgen insensitivity: the mutated receptor fails to transactivate but binds to DNA in vitro. Hum Mol Genet. 1993 Nov;2(11):1809-12. PMID:8281140
↑Hiort O, Huang Q, Sinnecker GH, Sadeghi-Nejad A, Kruse K, Wolfe HJ, Yandell DW. Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy. J Clin Endocrinol Metab. 1993 Jul;77(1):262-6. PMID:8325950
↑Lobaccaro JM, Lumbroso S, Berta P, Chaussain JL, Sultan C. Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism. J Steroid Biochem Mol Biol. 1993 Mar;44(3):211-6. PMID:8096390
↑Kazemi-Esfarjani P, Beitel LK, Trifiro M, Kaufman M, Rennie P, Sheppard P, Matusik R, Pinsky L. Substitution of valine-865 by methionine or leucine in the human androgen receptor causes complete or partial androgen insensitivity, respectively with distinct androgen receptor phenotypes. Mol Endocrinol. 1993 Jan;7(1):37-46. PMID:8446106
↑Beitel LK, Prior L, Vasiliou DM, Gottlieb B, Kaufman M, Lumbroso R, Alvarado C, McGillivray B, Trifiro M, Pinsky L. Complete androgen insensitivity due to mutations in the probable alpha-helical segments of the DNA-binding domain in the human androgen receptor. Hum Mol Genet. 1994 Jan;3(1):21-7. PMID:8162033
↑Hiort O, Wodtke A, Struve D, Zollner A, Sinnecker GH. Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis. German Collaborative Intersex Study Group. Hum Mol Genet. 1994 Jul;3(7):1163-6. PMID:7981687
↑Baldazzi L, Baroncini C, Pirazzoli P, Balsamo A, Capelli M, Marchetti G, Bernardi F, Cacciari E. Two mutations causing complete androgen insensitivity: a frame-shift in the steroid binding domain and a Cys-->Phe substitution in the second zinc finger of the androgen receptor. Hum Mol Genet. 1994 Jul;3(7):1169-70. PMID:7981689
↑Tsukada T, Inoue M, Tachibana S, Nakai Y, Takebe H. An androgen receptor mutation causing androgen resistance in undervirilized male syndrome. J Clin Endocrinol Metab. 1994 Oct;79(4):1202-7. PMID:7962294
↑Beitel LK, Kazemi-Esfarjani P, Kaufman M, Lumbroso R, DiGeorge AM, Killinger DW, Trifiro MA, Pinsky L. Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance. J Clin Invest. 1994 Aug;94(2):546-54. PMID:8040309 doi:https://dx.doi.org/10.1172/JCI117368
↑Marcelli M, Zoppi S, Wilson CM, Griffin JE, McPhaul MJ. Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex. J Clin Invest. 1994 Oct;94(4):1642-50. PMID:7929841 doi:https://dx.doi.org/10.1172/JCI117507
↑Yong EL, Ng SC, Roy AC, Yun G, Ratnam SS. Pregnancy after hormonal correction of severe spermatogenic defect due to mutation in androgen receptor gene. Lancet. 1994 Sep 17;344(8925):826-7. PMID:7993455
↑Ris-Stalpers C, Hoogenboezem T, Sleddens HF, Verleun-Mooijman MC, Degenhart HJ, Drop SL, Halley DJ, Oosterwijk JC, Hodgins MB, Trapman J, et al.. A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivity. Pediatr Res. 1994 Aug;36(2):227-34. PMID:7970939
↑Imai A, Ohno T, Iida K, Ohsuye K, Okano Y, Tamaya T. A frame-shift mutation of the androgen receptor gene in a patient with receptor-negative complete testicular feminization: comparison with a single base substitution in a receptor-reduced incomplete form. Ann Clin Biochem. 1995 Sep;32 ( Pt 5):482-6. PMID:8830623
↑Davies HR, Hughes IA, Patterson MN. Genetic counselling in complete androgen insensitivity syndrome: trinucleotide repeat polymorphisms, single-strand conformation polymorphism and direct detection of two novel mutations in the androgen receptor gene. Clin Endocrinol (Oxf). 1995 Jul;43(1):69-77. PMID:7641413
↑Quigley CA, De Bellis A, Marschke KB, el-Awady MK, Wilson EM, French FS. Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev. 1995 Jun;16(3):271-321. PMID:7671849
↑Shkolny DL, Brown TR, Punnett HH, Kaufman M, Trifiro MA, Pinsky L. Characterization of alternative amino acid substitutions at arginine 830 of the androgen receptor that cause complete androgen insensitivity in three families. Hum Mol Genet. 1995 Apr;4(4):515-21. PMID:7633398
↑Belsham DD, Pereira F, Greenberg CR, Liao S, Wrogemann K. Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred. Hum Mutat. 1995;5(1):28-33. PMID:7537149 doi:https://dx.doi.org/10.1002/humu.1380050104
↑Murono K, Mendonca BB, Arnhold IJ, Rigon AC, Migeon CJ, Brown TR. Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain. Hum Mutat. 1995;6(2):152-62. PMID:7581399 doi:https://dx.doi.org/10.1002/humu.1380060208
↑Weidemann W, Linck B, Haupt H, Mentrup B, Romalo G, Stockklauser K, Brinkmann AO, Schweikert HU, Spindler KD. Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene. Clin Endocrinol (Oxf). 1996 Dec;45(6):733-9. PMID:9039340
↑Malmgren H, Gustavsson J, Tuvemo T, Dahl N. Rapid detection of a mutation hot-spot in the human androgen receptor. Clin Genet. 1996 Oct;50(4):202-5. PMID:9001799
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↑Sutherland RW, Wiener JS, Hicks JP, Marcelli M, Gonzales ET Jr, Roth DR, Lamb DJ. Androgen receptor gene mutations are rarely associated with isolated penile hypospadias. J Urol. 1996 Aug;156(2 Pt 2):828-31. PMID:8683794
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↑Radmayr C, Culig Z, Glatzl J, Neuschmid-Kaspar F, Bartsch G, Klocker H. Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome. J Urol. 1997 Oct;158(4):1553-6. PMID:9302173
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↑Cabral DF, Maciel-Guerra AT, Hackel C. Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism. Braz J Med Biol Res. 1998 Jun;31(6):775-8. PMID:9698822
↑Wang Q, Ghadessy FJ, Yong EL. Analysis of the transactivation domain of the androgen receptor in patients with male infertility. Clin Genet. 1998 Sep;54(3):185-92. PMID:9788719
↑Tanaka H, Komori S, Sakata K, Shima H, Koyama K. One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome. Gynecol Endocrinol. 1998 Apr;12(2):75-82. PMID:9610419
↑Lundberg Giwercman Y, Nikoshkov A, Lindsten K, Bystrom B, Pousette A, Chibalin AV, Arvidsson S, Tiulpakov A, Semitcheva TV, Peterkova V, Hagenfeldt K, Ritzen EM, Wedell A. Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome. Hum Genet. 1998 Oct;103(4):529-31. PMID:9856504
↑Dork T, Schnieders F, Jakubiczka S, Wieacker P, Schroeder-Kurth T, Schmidtke J. A new missense substitution at a mutational hot spot of the androgen receptor in siblings with complete androgen insensitivity syndrome. Hum Mutat. 1998;11(4):337-9. PMID:9554754
↑Wang Q, Ghadessy FJ, Trounson A, de Kretser D, McLachlan R, Ng SC, Yong EL. Azoospermia associated with a mutation in the ligand-binding domain of an androgen receptor displaying normal ligand binding, but defective trans-activation. J Clin Endocrinol Metab. 1998 Dec;83(12):4303-9. PMID:9851768
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↑Chen CP, Chern SR, Wang TY, Wang W, Wang KL, Jeng CJ. Androgen receptor gene mutations in 46,XY females with germ cell tumours. Hum Reprod. 1999 Mar;14(3):664-70. PMID:10221692
↑Kanayama H, Naroda T, Inoue Y, Kurokawa Y, Kagawa S. A case of complete testicular feminization: laparoscopic orchiectomy and analysis of androgen receptor gene mutation. Int J Urol. 1999 Jun;6(6):327-30. PMID:10404311
↑Shkolny DL, Beitel LK, Ginsberg J, Pekeles G, Arbour L, Pinsky L, Trifiro MA. Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively. J Clin Endocrinol Metab. 1999 Feb;84(2):805-10. PMID:10022458
↑Peters I, Weidemann W, Romalo G, Knorr D, Schweikert HU, Spindler KD. An androgen receptor mutation in the direct vicinity of the proposed C-terminal alpha-helix of the ligand binding domain containing the AF-2 transcriptional activating function core is associated with complete androgen insensitivity. Mol Cell Endocrinol. 1999 Feb 25;148(1-2):47-53. PMID:10221770
↑Holterhus PM, Wiebel J, Sinnecker GH, Bruggenwirth HT, Sippell WG, Brinkmann AO, Kruse K, Hiort O. Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome. Pediatr Res. 1999 Dec;46(6):684-90. PMID:10590024
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↑Chavez B, Mendez JP, Ulloa-Aguirre A, Larrea F, Vilchis F. Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome. J Hum Genet. 2001;46(10):560-5. PMID:11587068 doi:10.1007/s100380170021
↑Sills ES, Sholes TE, Perloe M, Kaplan CR, Davis JG, Tucker MJ. Characterization of a novel receptor mutation A-->T at exon 4 in complete androgen insensitivity syndrome and a carrier sibling via bidirectional polymorphism sequence analysis. Int J Mol Med. 2002 Jan;9(1):45-8. PMID:11744994
↑Jaaskelainen J, Deeb A, Schwabe JW, Mongan NP, Martin H, Hughes IA. Human androgen receptor gene ligand-binding-domain mutations leading to disrupted interaction between the N- and C-terminal domains. J Mol Endocrinol. 2006 Apr;36(2):361-8. PMID:16595706 doi:36/2/361
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↑Hofman K, Swinnen JV, Claessens F, Verhoeven G, Heyns W. The retinoblastoma protein-associated transcription repressor RBaK interacts with the androgen receptor and enhances its transcriptional activity. J Mol Endocrinol. 2003 Dec;31(3):583-96. PMID:14664718
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↑Xu K, Shimelis H, Linn DE, Jiang R, Yang X, Sun F, Guo Z, Chen H, Li W, Chen H, Kong X, Melamed J, Fang S, Xiao Z, Veenstra TD, Qiu Y. Regulation of androgen receptor transcriptional activity and specificity by RNF6-induced ubiquitination. Cancer Cell. 2009 Apr 7;15(4):270-82. doi: 10.1016/j.ccr.2009.02.021. PMID:19345326 doi:10.1016/j.ccr.2009.02.021
↑Gordon V, Bhadel S, Wunderlich W, Zhang J, Ficarro SB, Mollah SA, Shabanowitz J, Hunt DF, Xenarios I, Hahn WC, Conaway M, Carey MF, Gioeli D. CDK9 regulates AR promoter selectivity and cell growth through serine 81 phosphorylation. Mol Endocrinol. 2010 Dec;24(12):2267-80. doi: 10.1210/me.2010-0238. Epub 2010 Oct, 27. PMID:20980437 doi:10.1210/me.2010-0238
↑Estebanez-Perpina E, Moore JM, Mar E, Delgado-Rodrigues E, Nguyen P, Baxter JD, Buehrer BM, Webb P, Fletterick RJ, Guy RK. The molecular mechanisms of coactivator utilization in ligand-dependent transactivation by the androgen receptor. J Biol Chem. 2005 Mar 4;280(9):8060-8. Epub 2004 Nov 24. PMID:15563469 doi:10.1074/jbc.M407046200
↑Askew EB, Gampe RT Jr, Stanley TB, Faggart JL, Wilson EM. Modulation of androgen receptor activation function 2 by testosterone and dihydrotestosterone. J Biol Chem. 2007 Aug 31;282(35):25801-16. Epub 2007 Jun 25. PMID:17591767 doi:10.1074/jbc.M703268200
↑Estebanez-Perpina E, Arnold LA, Nguyen P, Rodrigues ED, Mar E, Bateman R, Pallai P, Shokat KM, Baxter JD, Guy RK, Webb P, Fletterick RJ. A surface on the androgen receptor that allosterically regulates coactivator binding. Proc Natl Acad Sci U S A. 2007 Oct 9;104(41):16074-9. Epub 2007 Oct 2. PMID:17911242
↑Cantin L, Faucher F, Couture JF, de Jesus-Tran KP, Legrand P, Ciobanu LC, Frechette Y, Labrecque R, Singh SM, Labrie F, Breton R. Structural characterization of the human androgen receptor ligand-binding domain complexed with EM5744, a rationally designed steroidal ligand bearing a bulky chain directed toward helix 12. J Biol Chem. 2007 Oct 19;282(42):30910-9. Epub 2007 Aug 21. PMID:17711855 doi:10.1074/jbc.M705524200
