insulin receptor

Summary

Gene Symbol: insulin receptor
Description: insulin receptor
Alias: CD220, HHF5, insulin receptor
Species: human
Products:     insulin receptor

Top Publications

  1. Whittaker L, Hao C, Fu W, Whittaker J. High-affinity insulin binding: insulin interacts with two receptor ligand binding sites. Biochemistry. 2008;47:12900-9 pubmed publisher
    ..These residues thus form part of a novel ligand binding site of the insulin receptor. Complementation experiments demonstrate that insulin interacts in trans with both receptor binding sites to ..
  2. Kalla Singh S, Brito C, Tan Q, De Leon M, De Leon D. Differential expression and signaling activation of insulin receptor isoforms A and B: A link between breast cancer and diabetes. Growth Factors. 2011;29:278-89 pubmed publisher
    ..Since IGF-II activates the insulin receptor (INSR), we propose that the INSR signaling is also activated in this system...
  3. Hunter R, Hers I. Insulin/IGF-1 hybrid receptor expression on human platelets: consequences for the effect of insulin on platelet function. J Thromb Haemost. 2009;7:2123-30 pubmed publisher
    ..15% +/- 0.03%). Accordingly, IGF-1 receptor mRNA was more abundant than insulin receptor mRNA (IGF-1 receptor/insulin receptor ratio 69 +/- 3.8)...
  4. Hart L, Stolk R, Heine R, Grobbee D, van der Does F, Maassen J. Association of the insulin-receptor variant Met-985 with hyperglycemia and non-insulin-dependent diabetes mellitus in the Netherlands: a population-based study. Am J Hum Genet. 1996;59:1119-25 pubmed
    ..Most NIDDM patients have a normal sequence of the insulin receptor, indicating that, if insulin-receptor mutations contribute to the development of NIDDM, they will be present ..
  5. Bäck K, Arnqvist H. Changes in insulin and IGF-I receptor expression during differentiation of human preadipocytes. Growth Horm IGF Res. 2009;19:101-11 pubmed publisher
    ..DNA synthesis was increased by insulin and IGF-I at 10nM. In conclusion, both IR and IGF-IR are present in human preadipocytes and adipocytes. Differentiation is characterized by an increased IR/IGF-IR ratio. ..
  6. Hubbard S, Wei L, Ellis L, Hendrickson W. Crystal structure of the tyrosine kinase domain of the human insulin receptor. Nature. 1994;372:746-54 pubmed
    The X-ray crystal structure of the tyrosine kinase domain of the human insulin receptor has been determined by multiwavelength anomalous diffraction phasing and refined to 2.1 A resolution...
  7. Sen S, Talukdar I, Webster N. SRp20 and CUG-BP1 modulate insulin receptor exon 11 alternative splicing. Mol Cell Biol. 2009;29:871-80 pubmed publisher
    The insulin receptor (IR) exists as two isoforms, IR-A and IR-B, which result from alternative splicing of exon 11 in the primary transcript...
  8. Longo N, Wang Y, Smith S, Langley S, DiMeglio L, Giannella Neto D. Genotype-phenotype correlation in inherited severe insulin resistance. Hum Mol Genet. 2002;11:1465-75 pubmed
    The insulin receptor is a ligand-activated tyrosine kinase. Mutations in the corresponding gene cause the rare inherited insulin-resistant disorders leprechaunism and Rabson-Mendenhall syndrome...
  9. Chen Z, Shi Y, Zhao Y, Li Y, Tang R, Zhao L, et al. [Correlation between single nucleotide polymorphism of insulin receptor gene with polycystic ovary syndrome]. Zhonghua Fu Chan Ke Za Zhi. 2004;39:582-5 pubmed
    To investigate the correlation of C/T single nucleotide polymorphism at exon 17 in tyrosine kinase domain of insulin receptor gene with polycystic ovary syndrome (PCOS)...

More Information

Publications63

  1. Huang J, Morehouse C, Streicher K, Higgs B, Gao J, Czapiga M, et al. Altered expression of insulin receptor isoforms in breast cancer. PLoS ONE. 2011;6:e26177 pubmed publisher
    Insulin-like growth factor (IGF) signaling through human insulin receptor isoform A (IR-A) contributes to tumorigenesis and intrinsic resistance to anti-IGF1R therapy...
  2. Heni M, Hennenlotter J, Scharpf M, Lutz S, Schwentner C, Todenhöfer T, et al. Insulin receptor isoforms A and B as well as insulin receptor substrates-1 and -2 are differentially expressed in prostate cancer. PLoS ONE. 2012;7:e50953 pubmed publisher
    In different cancers types, insulin receptor isoform composition or insulin receptor substrate (IRS) isoforms are different to healthy tissue. This may be a molecular link to increased cancer risk in diabetes and obesity...
  3. Skrgatić L, Baldani D, Gersak K, Cerne J, Ferk P, Coric M. Genetic polymorphisms of INS, INSR and IRS-1 genes are not associated with polycystic ovary syndrome in Croatian women. Coll Antropol. 2013;37:141-6 pubmed
    ..Therefore, several polymorphisms of the genes encoding for the insulin (INS), insulin receptor (INSR) or insulin receptor substrates (IRS) involved in postreceptor signaling have been explored for their ..
  4. Cama A, Sierra M, Kadowaki T, Kadowaki H, Quon M, Rüdiger H, et al. Two mutant alleles of the insulin receptor gene in a family with a genetic form of insulin resistance: a 10 base pair deletion in exon 1 and a mutation substituting serine for asparagine-462. Hum Genet. 1995;95:174-82 pubmed
    Mutations in the insulin receptor gene cause several genetic syndromes associated with extreme insulin resistance. We have studied three insulin resistant siblings with acanthosis nigricans, dental abnormalities, and acral hypertrophy...
  5. Goodarzi M, Louwers Y, Taylor K, Jones M, Cui J, Kwon S, et al. Replication of association of a novel insulin receptor gene polymorphism with polycystic ovary syndrome. Fertil Steril. 2011;95:1736-41.e1-11 pubmed publisher
    ..Several SNPs were associated with PCOS in the discovery cohort. Four insulin receptor (INSR) SNPs and three insulin receptor substrate 2 (IRS2) SNPs associated with PCOS were genotyped in the ..
  6. Shi Y, Zhao H, Shi Y, Cao Y, Yang D, Li Z, et al. Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. Nat Genet. 2012;44:1020-5 pubmed publisher
    ..Other candidate genes were related to calcium signaling and endocytosis. Our findings provide new insight and direction for discovering the biological mechanisms of PCOS. ..
  7. Yamaguchi Y, Flier J, Benecke H, Ransil B, Moller D. Ligand-binding properties of the two isoforms of the human insulin receptor. Endocrinology. 1993;132:1132-8 pubmed
    Tissue-specific alternative splicing of exon 11 of the insulin receptor gene results in 2 mRNAs that differ by 36 nucleotides within the coding region...
  8. Kalli K, Falowo O, Bale L, Zschunke M, Roche P, Conover C. Functional insulin receptors on human epithelial ovarian carcinoma cells: implications for IGF-II mitogenic signaling. Endocrinology. 2002;143:3259-67 pubmed
    The insulin receptor mediates a proliferative response in certain transformed cells, but little is known about its function in ovarian cancer...
  9. Højlund K, Hansen T, Lajer M, Henriksen J, Levin K, Lindholm J, et al. A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene. Diabetes. 2004;53:1592-8 pubmed
    ..subsequent mutation screening revealed a missense mutation (Arg1174Gln) in the tyrosine kinase domain of the insulin receptor gene that cosegregated with the disease phenotype (logarithm of odds [LOD] score 3.21)...
  10. Jin L, Zhu X, Luo Q, Qian Y, Jin F, Huang H. A novel SNP at exon 17 of INSR is associated with decreased insulin sensitivity in Chinese women with PCOS. Mol Hum Reprod. 2006;12:151-5 pubmed
    To investigate the association of single-nucleotide polymorphisms (SNPs) in exon 17 of the insulin receptor (INSR) gene with insulin resistance and INSR beta-subunit expression in polycystic ovary syndrome (PCOS) patients, a case-control ..
  11. Jin L, Huang H, Jin F, Qian Y. [Polymorphism in insulin receptor gene exon 17 in women with polycystic ovary syndrome]. Zhonghua Fu Chan Ke Za Zhi. 2005;40:323-6 pubmed
    To investigate insulin receptor (INSR) genotype exon 17 frequencies in women with polycystic ovary syndrome (PCOS) and to elucidate its role in the pathogenesis of PCOS...
  12. Pandini G, Frasca F, Mineo R, Sciacca L, Vigneri R, Belfiore A. Insulin/insulin-like growth factor I hybrid receptors have different biological characteristics depending on the insulin receptor isoform involved. J Biol Chem. 2002;277:39684-95 pubmed
    The insulin receptor (IR) and the insulin-like growth factor I receptor (IGF-IR) have a highly homologous structure, but different biological effects...
  13. Chu Y, Gong Y, Su Z, Yu H, Cui Q, Jiang H, et al. Relationship between tyrosine phosphorylation and protein expression of insulin receptor and insulin resistance in gestational diabetes mellitus. J Huazhong Univ Sci Technolog Med Sci. 2014;34:393-397 pubmed publisher
    The relationship between tyrosine phosphorylation (TP) and protein expression of insulin receptor (InsR) and insulin resistance (IR) in patients with gestational diabetes mellitus (GDM) was investigated...
  14. Liu J, Kimura A, Baumann C, Saltiel A. APS facilitates c-Cbl tyrosine phosphorylation and GLUT4 translocation in response to insulin in 3T3-L1 adipocytes. Mol Cell Biol. 2002;22:3599-609 pubmed
    APS is a Cbl-binding protein that is tyrosine phosphorylated by the insulin receptor kinase...
  15. Cox M, Gleave M, Zakikhani M, Bell R, Piura E, Vickers E, et al. Insulin receptor expression by human prostate cancers. Prostate. 2009;69:33-40 pubmed publisher
    ..and 33 Gleason grade 5 cancers with antibodies against the insulin-like growth factor I receptor and the insulin receptor. We observed immunoreactivity with both antibodies, which implies the presence of hybrid receptors as well as ..
  16. Hansen L, Hansen T, Clausen J, Echwald S, Urhammer S, Rasmussen S, et al. The Val985Met insulin-receptor variant in the Danish Caucasian population: lack of associations with non-insulin-dependent diabetes mellitus or insulin resistance. Am J Hum Genet. 1997;60:1532-5 pubmed
  17. Fox E, Miller T, Balko J, Kuba M, Sanchez V, Smith R, et al. A kinome-wide screen identifies the insulin/IGF-I receptor pathway as a mechanism of escape from hormone dependence in breast cancer. Cancer Res. 2011;71:6773-84 pubmed publisher
    ..A kinome-wide siRNA screen showed that the insulin receptor (InsR) is required for growth of MCF-7/LTED cells...
  18. Denley A, Bonython E, Booker G, Cosgrove L, Forbes B, Ward C, et al. Structural determinants for high-affinity binding of insulin-like growth factor II to insulin receptor (IR)-A, the exon 11 minus isoform of the IR. Mol Endocrinol. 2004;18:2502-12 pubmed
    The insulin receptor (IR) lacking the alternatively spliced exon 11 (IR-A) is preferentially expressed in fetal and cancer cells...
  19. Alvino C, McNeil K, Ong S, Delaine C, Booker G, Wallace J, et al. A novel approach to identify two distinct receptor binding surfaces of insulin-like growth factor II. J Biol Chem. 2009;284:7656-64 pubmed publisher
    ..for the interaction of insulin-like growth factor II (IGF-II) with the type 1 IGF receptor (IGF-1R) and the insulin receptor (IR)...
  20. Siegel S, Futterweit W, Davies T, Concepcion E, Greenberg D, Villanueva R, et al. A C/T single nucleotide polymorphism at the tyrosine kinase domain of the insulin receptor gene is associated with polycystic ovary syndrome. Fertil Steril. 2002;78:1240-3 pubmed
    To examine whether the insulin receptor (INSR) gene contributes to genetic susceptibility to the polycystic ovary syndrome (PCOS). Case-control study. Academic endocrinology clinic...
  21. Hanzu F, Radian S, Attaoua R, Ait El Mkadem S, Fica S, Gheorghiu M, et al. Association of insulin receptor genetic variants with polycystic ovary syndrome in a population of women from Central Europe. Fertil Steril. 2010;94:2389-92 pubmed publisher
    To assess the role of the insulin receptor gene in polycystic ovary syndrome (PCOS) we performed a case-control study in a female population (n=226) from Central Europe by examining the genetic associations of single nucleotide ..
  22. Pandini G, Medico E, Conte E, Sciacca L, Vigneri R, Belfiore A. Differential gene expression induced by insulin and insulin-like growth factor-II through the insulin receptor isoform A. J Biol Chem. 2003;278:42178-89 pubmed
    The human insulin receptor (IR) exists in two isoforms (IR-A and IR-B). IR-A is a short isoform, generated by the skipping of exon 11, a small exon encoding for 12 amino acid residues at the carboxyl terminus of the IR alpha-subunit...
  23. Kashima K, Yahata T, Fujita K, Tanaka K. Polycystic ovary syndrome: association of a C/T single nucleotide polymorphism at tyrosine kinase domain of insulin receptor gene with pathogenesis among lean Japanese women. J Reprod Med. 2013;58:491-6 pubmed
    To assess whether the insulin receptor (INSR) gene contributes to genetic susceptibility to polycystic ovary syndrome (PCOS) in a Japanese population.
  24. He W, Rose D, Olefsky J, Gustafson T. Grb10 interacts differentially with the insulin receptor, insulin-like growth factor I receptor, and epidermal growth factor receptor via the Grb10 Src homology 2 (SH2) domain and a second novel domain located between the pleckstrin homology and SH2 . J Biol Chem. 1998;273:6860-7 pubmed
    The Grb10 protein appears to be an adapter protein of unknown function that has been implicated in insulin receptor (IR) signaling...
  25. Bäck K, Islam R, Johansson G, Chisalita S, Arnqvist H. Insulin and IGF1 receptors in human cardiac microvascular endothelial cells: metabolic, mitogenic and anti-inflammatory effects. J Endocrinol. 2012;215:89-96 pubmed publisher
    ..TNF-? has a pronounced pro-inflammatory effect in HMVEC-Cs, which is not counteracted by insulin or IGF1. ..
  26. Ioannidis A, Ikonomi E, Dimou N, Douma L, Bagos P. Polymorphisms of the insulin receptor and the insulin receptor substrates genes in polycystic ovary syndrome: a Mendelian randomization meta-analysis. Mol Genet Metab. 2010;99:174-83 pubmed publisher
    ..In this work we investigated the association of insulin receptor (IotaNSR) and insulin receptor substrates (IRSs) polymorphisms with the risk of developing PCOS...
  27. Hone J, Accili D, al Gazali L, Lestringant G, Orban T, Taylor S. Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin resistance. J Med Genet. 1994;31:715-6 pubmed
    Mutations in the insulin receptor gene can cause genetic syndromes such as leprechaunism that are associated with extreme insulin resistance. We have investigated a patient with leprechaunism born of a consanguineous marriage...
  28. Kasus Jacobi A, Bereziat V, Perdereau D, Girard J, Burnol A. Evidence for an interaction between the insulin receptor and Grb7. A role for two of its binding domains, PIR and SH2. Oncogene. 2000;19:2052-9 pubmed
    ..Interestingly, Grb7 is not a substrate of the insulin receptor tyrosine kinase activity. Grb7 binds the activated tyrosine kinase loop of the insulin receptors...
  29. Hamer I, Foti M, Emkey R, Cordier Bussat M, Philippe J, De Meyts P, et al. An arginine to cysteine(252) mutation in insulin receptors from a patient with severe insulin resistance inhibits receptor internalisation but preserves signalling events. Diabetologia. 2002;45:657-67 pubmed
    We examined the properties of a mutant insulin receptor (IR) with an Arg(252) to Cys (IR(R252C)) substitution in the alpha-subunit originally identified in a patient with extreme insulin resistance and acanthosis nigricans...
  30. Mukherjee S, Shaikh N, Khavale S, Shinde G, Meherji P, Shah N, et al. Genetic variation in exon 17 of INSR is associated with insulin resistance and hyperandrogenemia among lean Indian women with polycystic ovary syndrome. Eur J Endocrinol. 2009;160:855-62 pubmed publisher
    ..Polymorphisms in exon 17 of insulin receptor (INSR) gene are reported to be associated with PCOS...
  31. Kayali A, Eichhorn J, Haruta T, Morris A, Nelson J, Vollenweider P, et al. Association of the insulin receptor with phospholipase C-gamma (PLCgamma) in 3T3-L1 adipocytes suggests a role for PLCgamma in metabolic signaling by insulin. J Biol Chem. 1998;273:13808-18 pubmed
    ..In this paper, we present evidence for the association of the insulin receptor (IR) with PLCgamma...
  32. Unsal T, Konac E, Yesilkaya E, Yilmaz A, Bideci A, Ilke Onen H, et al. Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome. J Assist Reprod Genet. 2009;26:205-16 pubmed publisher
    ..Our data does not support an association between SNPs of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes and susceptibility to PCOS or related traits in Turkish adolescent girls. ..
  33. Smith B, Huang K, Kong G, Chan S, Nakagawa S, Menting J, et al. Structural resolution of a tandem hormone-binding element in the insulin receptor and its implications for design of peptide agonists. Proc Natl Acad Sci U S A. 2010;107:6771-6 pubmed publisher
    The C-terminal segment of the human insulin receptor alpha-chain (designated alphaCT) is critical to insulin binding as has been previously demonstrated by alanine scanning mutagenesis and photo-cross-linking...
  34. Lee E, Oh B, Lee J, Kimm K, Lee S, Baek K. A novel single nucleotide polymorphism of INSR gene for polycystic ovary syndrome. Fertil Steril. 2008;89:1213-20 pubmed
    To investigate several single nucleotide polymorphisms (SNPs) in the insulin receptor (INSR) gene that have significant associations with pathogenesis of polycystic ovary syndrome (PCOS) in a Korean population. Case-control study...
  35. Eichhorn J, Kayali A, Resor L, Austin D, Rose D, Webster N. PLC-gamma1 enzyme activity is required for insulin-induced DNA synthesis. Endocrinology. 2002;143:655-64 pubmed
    ..In this study, we confirmed that the insulin receptor and PLC-gamma1 are physically associated in hIRcB fibroblasts, insulin stimulates PLC-gamma1 enzyme activity, ..
  36. Alvino C, Ong S, McNeil K, Delaine C, Booker G, Wallace J, et al. Understanding the mechanism of insulin and insulin-like growth factor (IGF) receptor activation by IGF-II. PLoS ONE. 2011;6:e27488 pubmed publisher
    ..IGF-II binds both the insulin-like growth factor receptor (IGF-1R) and insulin receptor isoform A (IR-A) with high affinity...
  37. Paul S, Dansithong W, Kim D, Rossi J, Webster N, Comai L, et al. Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing. EMBO J. 2006;25:4271-83 pubmed
    ..elevated in DM1 myoblasts and that increased hnRNP H levels in normal myoblasts results in the inhibition of insulin receptor (IR) exon 11 splicing in a manner similar to that observed in DM1...
  38. Iwanishi M, Haruta T, Takata Y, Ishibashi O, Sasaoka T, Egawa K, et al. A mutation (Trp1193-->Leu1193) in the tyrosine kinase domain of the insulin receptor associated with type A syndrome of insulin resistance. Diabetologia. 1993;36:414-22 pubmed
    ..The maximal insulin-stimulated autophosphorylation of the insulin receptor from the patient's transformed lymphocytes was decreased to 45% of that from the control subjects...
  39. Slaaby R, Schäffer L, Lautrup Larsen I, Andersen A, Shaw A, Mathiasen I, et al. Hybrid receptors formed by insulin receptor (IR) and insulin-like growth factor I receptor (IGF-IR) have low insulin and high IGF-1 affinity irrespective of the IR splice variant. J Biol Chem. 2006;281:25869-74 pubmed
    b>Insulin receptor (IR) and insulin-like growth factor I receptor (IGF-IR) are both from the same subgroup of receptor tyrosine kinases that exist as covalently bound receptor dimers at the cell surface...
  40. Lee E, Yoo K, Kim S, Lee S, Cha K, Baek K. Single nucleotide polymorphism in exon 17 of the insulin receptor gene is not associated with polycystic ovary syndrome in a Korean population. Fertil Steril. 2006;86:380-4 pubmed
    To assess the association between the single nucleotide polymorphism of the insulin receptor (INSR) gene and polycystic ovary syndrome (PCOS) in a Korean population. Case-control study. University-based hospital...
  41. Hribal M, Perego L, Lovari S, Andreozzi F, Menghini R, Perego C, et al. Chronic hyperglycemia impairs insulin secretion by affecting insulin receptor expression, splicing, and signaling in RIN beta cell line and human islets of Langerhans. FASEB J. 2003;17:1340-2 pubmed
    Recent evidence suggests that insulin signaling through the insulin receptor A type (Ex11-), regulates insulin gene transcription...
  42. Whittaker J, Sørensen H, Gadsbøll V, Hinrichsen J. Comparison of the functional insulin binding epitopes of the A and B isoforms of the insulin receptor. J Biol Chem. 2002;277:47380-4 pubmed
    The human insulin receptor is expressed as two isoforms that are generated by alternate splicing of its mRNA; the B isoform has 12 additional amino acids (718-729) encoded by exon 11 of the gene...
  43. Zhang G, Li X, Zhang L, Zhao L, Jiang J, Wang J, et al. The expression and role of hybrid insulin/insulin-like growth factor receptor type 1 in endometrial carcinoma cells. Cancer Genet Cytogenet. 2010;200:140-8 pubmed publisher
    b>Insulin receptor (IR) and type 1 insulin-like growth factor receptor (IGF-IR) can assemble heteromerically as a hybrid insulin/IGF-I receptor (hybrid-R) in tissues that express both molecules...
  44. al Gazali L, Khalil M, Devadas K. A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents. J Med Genet. 1993;30:470-5 pubmed
    ..Defects in both the insulin receptor and postreceptor steps of the insulin action pathway have been reported...
  45. Krook A, Brueton L, O Rahilly S. Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism. Lancet. 1993;342:277-8 pubmed
    Mutations in the insulin receptor gene have been detected in patients with severe insulin resistance, but the absence of insulin receptors has not been recorded...
  46. Gotoh N, Toyoda M, Shibuya M. Tyrosine phosphorylation sites at amino acids 239 and 240 of Shc are involved in epidermal growth factor-induced mitogenic signaling that is distinct from Ras/mitogen-activated protein kinase activation. Mol Cell Biol. 1997;17:1824-31 pubmed
    ..These results suggest that Shc activates two distinct signaling pathways, Y317 to Ras/MAPK and Y239 and Y240 to another pathway including Myc, and that both are involved in EGF-induced mitogenic signaling. ..
  47. Seino S, Bell G. Alternative splicing of human insulin receptor messenger RNA. Biochem Biophys Res Commun. 1989;159:312-6 pubmed
    The polymerase chain reaction has been used to examine alternative splicing of human insulin receptor (hINSR) mRNA...
  48. Moller D, Flier J. Detection of an alteration in the insulin-receptor gene in a patient with insulin resistance, acanthosis nigricans, and the polycystic ovary syndrome (type A insulin resistance). N Engl J Med. 1988;319:1526-9 pubmed
  49. Tewari D, Cook D, Taub R. Characterization of the promoter region and 3' end of the human insulin receptor gene. J Biol Chem. 1989;264:16238-45 pubmed
    The insulin receptor is an essential protein present on the surface of virtually all cells...
  50. Yoshimasa Y, Seino S, Whittaker J, Kakehi T, Kosaki A, Kuzuya H, et al. Insulin-resistant diabetes due to a point mutation that prevents insulin proreceptor processing. Science. 1988;240:784-7 pubmed
    A point mutation in the human insulin receptor gene in a patient with type A insulin resistance alters the amino acid sequence within the tetrabasic processing site of the proreceptor molecule from Arg-Lys-Arg-Arg to Arg-Lys-Arg-Ser...
  51. Ebina Y, Ellis L, Jarnagin K, Edery M, Graf L, Clauser E, et al. The human insulin receptor cDNA: the structural basis for hormone-activated transmembrane signalling. Cell. 1985;40:747-58 pubmed
    A cloned approximately 5 kb cDNA (human placenta) contains the coding sequences for the insulin receptor. The nucleotide sequence predicts a 1382 amino acid precursor...
  52. O Rahilly S, Choi W, Patel P, Turner R, Flier J, Moller D. Detection of mutations in insulin-receptor gene in NIDDM patients by analysis of single-stranded conformation polymorphisms. Diabetes. 1991;40:777-82 pubmed
    ..of the technique for screening many patients, the 5 exons that encode the tyrosine kinase domain of the insulin receptor were examined in 30 unrelated white subjects with non-insulin-dependent diabetes mellitus (NIDDM)...
  53. Moller D, Yokota A, White M, Pazianos A, Flier J. A naturally occurring mutation of insulin receptor alanine 1134 impairs tyrosine kinase function and is associated with dominantly inherited insulin resistance. J Biol Chem. 1990;265:14979-85 pubmed
    We have identified a previously undescribed genetic variant of the insulin receptor (Ala1134----Thr1134) in a family with the Type A syndrome of insulin resistance...
  54. Odawara M, Kadowaki T, Yamamoto R, Shibasaki Y, Tobe K, Accili D, et al. Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor. Science. 1989;245:66-8 pubmed
    b>Insulin receptor complementary DNA has been cloned from an insulin-resistant individual whose receptors have impaired tyrosine protein kinase activity...