adenine phosphoribosyltransferase


Summary: An enzyme catalyzing the formation of AMP from adenine and phosphoribosylpyrophosphate. It can act as a salvage enzyme for recycling of adenine into nucleic acids. EC

Top Publications

  1. Edvardsson V, Palsson R, Olafsson I, Hjaltadottir G, Laxdal T. Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland. Am J Kidney Dis. 2001;38:473-80 pubmed
    The purpose of this study was to characterize the clinical, diagnostic, and prognostic features of adenine phosphoribosyltransferase (APRT) deficiency in Icelandic patients, as well as determine their genotype...
  2. Stockelman M, Lorenz J, Smith F, Boivin G, Sahota A, Tischfield J, et al. Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency. Am J Physiol. 1998;275:F154-63 pubmed
    In humans, adenine phosphoribosyltransferase (APRT, EC deficiency can manifest as nephrolithiasis, interstitial nephritis, and chronic renal failure...
  3. Chen J, Sahota A, Laxdal T, Scrine M, Bowman S, Cui C, et al. Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient. Am J Hum Genet. 1991;49:1306-11 pubmed
    We have completely sequenced the adenine phosphoribosyltransferase (APRT) gene from each of six patients--five (I-V) from Iceland and one (VI) from Britain...
  4. Silva M, Silva C, Iulek J, Thiemann O. Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis. Biochemistry. 2004;43:7663-71 pubmed
    In mammals, adenine phosphoribosyltransferase (APRT, EC 2.4.2...
  5. Hershey H, Taylor M. Nucleotide sequence and deduced amino acid sequence of Escherichia coli adenine phosphoribosyltransferase and comparison with other analogous enzymes. Gene. 1986;43:287-93 pubmed
    ..All PRTs, including E. coli adenine PRT (APRT), have a strongly conserved 13-aa sequence, as well as other regions of aa sequence or structural similarity. E. coli APRT is remarkably similar to the mouse enzyme. ..
  6. Wilson J, O Toole T, Argos P, Shewach D, Daddona P, Kelley W. Human adenine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme. J Biol Chem. 1986;261:13677-83 pubmed
    We defined the amino acid sequence of adenine phosphoribosyltransferase isolated from human erythrocytes...
  7. Hidaka Y, Palella T, O Toole T, Tarle S, Kelley W. Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme. J Clin Invest. 1987;80:1409-15 pubmed
    This study reports the first demonstration of specific mutations leading to human adenine phosphoribosyltransferase (APRT) deficiency...
  8. Shi W, Sarver A, Wang C, Tanaka K, Almo S, Schramm V. Closed site complexes of adenine phosphoribosyltransferase from Giardia lamblia reveal a mechanism of ribosyl migration. J Biol Chem. 2002;277:39981-8 pubmed
    The adenine phosphoribosyltransferase (APRTase) from Giardia lamblia was co-crystallized with 9-deazaadenine and sulfate or with 9-deazaadenine and Mg-phosphoribosylpyrophosphate. The complexes were solved and refined to 1.85 and 1...
  9. Mimori A, Hidaka Y, Wu V, Tarle S, Kamatani N, Kelley W, et al. A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects. Am J Hum Genet. 1991;48:103-7 pubmed
    b>Adenine phosphoribosyltransferase (APRT) deficiency is a genetic disorder which causes 2,8-dihydroxy-adenine urolithiasis. The estimated incidence of heterozygosity in Caucasian and Japanese populations is 1%...

More Information


  1. Hidaka Y, Tarle S, Fujimori S, Kamatani N, Kelley W, Palella T. Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese. J Clin Invest. 1988;81:945-50 pubmed
    Complete adenine phosphoribosyltransferase (APRT) deficiency causes 2,8-dihydroxyadenine urolithiasis...
  2. Dush M, Sikela J, Khan S, Tischfield J, Stambrook P. Nucleotide sequence and organization of the mouse adenine phosphoribosyltransferase gene: presence of a coding region common to animal and bacterial phosphoribosyltransferases that has a variable intron/exon arrangement. Proc Natl Acad Sci U S A. 1985;82:2731-5 pubmed
    We have determined the nucleotide sequence of a functional mouse adenine phosphoribosyltransferase (APRT) gene and its cDNA...
  3. Bollée G, Dollinger C, Boutaud L, Guillemot D, Bensman A, Harambat J, et al. Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. J Am Soc Nephrol. 2010;21:679-88 pubmed publisher
    b>Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder causing 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation...
  4. Kessler O, Chasin L. Effects of nonsense mutations on nuclear and cytoplasmic adenine phosphoribosyltransferase RNA. Mol Cell Biol. 1996;16:4426-35 pubmed
    ..Chinese hamster ovary (CHO) cell mutants bearing nonsense codons in four of the five exons of the adenine phosphoribosyltransferase (aprt) gene and have found a pattern of mRNA reduction similar to that seen in systems studied ..
  5. Schnorr K, Gaillard C, Biget E, Nygaard P, Laloue M. A second form of adenine phosphoribosyltransferase in Arabidopsis thaliana with relative specificity towards cytokinins. Plant J. 1996;9:891-8 pubmed
    b>Adenine phosphoribosyltransferase (APRTase) is an important enzyme for its ability to convert adenine, a byproduct of many biochemical reactions, into AMP...
  6. Eller P, Rosenkranz A, Mark W, Theurl I, Laufer J, Lhotta K. Four consecutive renal transplantations in a patient with adenine phosphoribosyltransferase deficiency. Clin Nephrol. 2004;61:217-21 pubmed
    We report a patient with complete adenine phosphoribosyltransferase deficiency and urolithiasis, in whom 4 consecutive cadaveric renal transplantations were performed; 2,8-dihydroxyadenine crystal nephropathy recurred within weeks in the ..
  7. Boitz J, Ullman B. Amplification of adenine phosphoribosyltransferase suppresses the conditionally lethal growth and virulence phenotype of Leishmania donovani mutants lacking both hypoxanthine-guanine and xanthine phosphoribosyltransferases. J Biol Chem. 2010;285:18555-64 pubmed publisher and metabolize 6-oxypurines could be ascribed to a marked amplification and overexpression of the adenine phosphoribosyltransferase (APRT) gene...
  8. Engle S, Stockelman M, Chen J, Boivin G, Yum M, Davies P, et al. Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis. Proc Natl Acad Sci U S A. 1996;93:5307-12 pubmed
    b>Adenine phosphoribosyltransferase (APRT) deficiency in humans is an autosomal recessive syndrome characterized by the urinary excretion of adenine and the highly insoluble compound 2,8-dihydroxyadenine (DHA) that can produce kidney ..
  9. Cassidy M, McCulloch T, Fairbanks L, Simmonds H. Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient. Nephrol Dial Transplant. 2004;19:736-8 pubmed
  10. Mummaneni P, Bishop P, Turker M. A cis-acting element accounts for a conserved methylation pattern upstream of the mouse adenine phosphoribosyltransferase gene. J Biol Chem. 1993;268:552-8 pubmed
    A 2.1-kilobase pair region located just upstream of the mouse aprt (adenine phosphoribosyltransferase) gene has a methylation pattern that is conserved in mouse tissues and culture cell lines...
  11. Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos Picot I. Adenine phosphoribosyltransferase deficiency. Clin J Am Soc Nephrol. 2012;7:1521-7 pubmed
    Complete adenine phosphoribosyltransferase (APRT) deficiency is a rare inherited metabolic disorder that leads to the formation and hyperexcretion of 2,8-dihydroxyadenine (DHA) into urine...
  12. Iwaki T, Kusaka T, Ohashi I, Nishida T, Imai T, Itoh S. Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency. Pediatr Nephrol. 2010;25:1173-6 pubmed publisher
    b>Adenine phosphoribosyltransferase deficiency is a disorder in which 2,8-dihydroxyadenine (2,8-DHA) crystalluria is caused by a congenital deficiency in the enzyme adenine phosphoribosyltransferase (APRT)...
  13. Nagy M, Ribet A. Purification and comparative study of adenine and guanine phosphoribosyltransferases from Schizosaccharomyces pombe. Eur J Biochem. 1977;77:77-85 pubmed
  14. Yates P, Burman R, Simpson J, Ponomoreva O, Thayer M, Turker M. Silencing of mouse Aprt is a gradual process in differentiated cells. Mol Cell Biol. 2003;23:4461-70 pubmed
    ..All allelic methylation patterns were variegated, which is consistent with a gradual and evolving process. In total, our results demonstrate that silencing of mouse Aprt is a gradual process in the differentiated cells. ..
  15. Hwang H, Gilberts T, Jardim A, Shih S, Ullman B. Creation of homozygous mutants of Leishmania donovani with single targeting constructs. J Biol Chem. 1996;271:30840-6 pubmed
    Homozygous null mutants of the hypoxanthine-guanine phosphoribosyltransferase (hgprt) and adenine phosphoribosyltransferase (aprt) loci were created in Leishmania donovani in which both alleles were eliminated using only a single ..
  16. Phillips C, Ullman B, Brennan R, Hill C. Crystal structures of adenine phosphoribosyltransferase from Leishmania donovani. EMBO J. 1999;18:3533-45 pubmed
    The enzyme adenine phosphoribosyltransferase (APRT) functions to salvage adenine by converting it to adenosine-5-monophosphate (AMP)...
  17. Tzortzaki E, Yang M, Glass D, Deng L, Evan A, Bledsoe S, et al. Impaired expression of an organic cation transporter, IMPT1, in a knockout mouse model for kidney stone disease. Urol Res. 2003;31:257-61 pubmed
    ..the function of IMPT1, we identified the renal structures expressing this gene in knockout mice with adenine phosphoribosyltransferase (APRT) deficiency and 2,8-dihydroxyadenine (DHA) nephrolithiasis...
  18. Zhou C, Li J, Zou J, Liang F, Ye C, Jin D, et al. Cloning and characterization of a second form of the rice adenine phosphoribosyl transferase gene (OsAPT2) and its association with TGMS. Plant Mol Biol. 2006;60:365-76 pubmed
    ..These data suggest that OsAPT2 is likely to be involved in TGMS in the rice line 'Annong S-1'. ..
  19. Li Z, Mehdi S, Patel I, Kawooya J, Judkins M, Zhang W, et al. An ultra-high throughput screening approach for an adenine transferase using fluorescence polarization. J Biomol Screen. 2000;5:31-8 pubmed
    ..We have successfully executed a 250,000-compound high throughput screening program based on the FP assay method. The quality and validity of the assay were verified by a variety of statistical analyses. ..
  20. Rose J, Yates P, Simpson J, Tischfield J, Stambrook P, Turker M. Biallelic methylation and silencing of mouse Aprt in normal kidney cells. Cancer Res. 2000;60:3404-8 pubmed
    ..In the present study, we show that methylation-associated silencing of the autosomal adenine phosphoribosyltransferase (Aprt) locus occurs in primary mouse kidney cells...
  21. Shin C, Mellon I, Turker M. Multiple mutations are common at mouse Aprt in genotoxin-exposed mismatch repair deficient cells. Oncogene. 2002;21:1768-76 pubmed
    ..The significance of these results is discussed with regards to the roles for the PMS2 and MLH1 proteins in preventing spontaneous and genotoxin-related mutations. ..
  22. Lukacsovich T, Waldman B, Waldman A. Efficient recruitment of transfected DNA to a homologous chromosomal target in mammalian cells. Biochim Biophys Acta. 2001;1521:89-96 pubmed
    A Chinese hamster ovary cell line hemizygous for a defective adenine phosphoribosyltransferase (aprt) gene was transfected with a plasmid, pAG100, capable of correcting the endogenous aprt mutation by targeted homologous recombination...
  23. Suchail S, Sarciron M, Petavy A. Purine metabolism in Echinococcus multilocularis. Comp Biochem Physiol B Biochem Mol Biol. 1998;120:633-7 pubmed
    ..from sera and hepatic tissue in control and infected animals were similar with the exception of adenine phosphoribosyltransferase which showed an activity 4-fold greater in the serum from control than in serum from infected ..
  24. Hong Y, Cervantes R, Stambrook P. DNA damage response and mutagenesis in mouse embryonic stem cells. Methods Mol Biol. 2006;329:313-26 pubmed
    ..A complementary mechanism is to regulate the cell cycle checkpoint and facilitate cell death. Here, we describe the detailed protocols we have used to investigate DNA damage response and mutagenesis in mouse ES cells. ..
  25. Bolante Cervantes R, Li S, Sahota A, Tischfield J, Zwerdling T, Stambrook P. Pattern of localization of primitive hematopoietic cells in vivo using a novel mouse model. Exp Hematol. 1999;27:1346-52 pubmed
    ..This mouse model is based on the differential capacity of adenine phosphoribosyltransferase (APRT)-positive and APRT-negative cells to sequester and incorporate radiolabeled adenine...
  26. Turker M, Gage B, Rose J, Elroy D, Ponomareva O, Stambrook P, et al. A novel signature mutation for oxidative damage resembles a mutational pattern found commonly in human cancers. Cancer Res. 1999;59:1837-9 pubmed oxidative damage, a kidney cell line with a heterozygous deficiency for the autosomal Aprt (adenine phosphoribosyltransferase) gene was tested for its mutagenic response to hydrogen peroxide...
  27. Liechti G, Goldberg J. Helicobacter pylori relies primarily on the purine salvage pathway for purine nucleotide biosynthesis. J Bacteriol. 2012;194:839-54 pubmed publisher
    ..pylori in standard media, indicating that H. pylori possesses the ability to utilize purines and nucleosides from the environment in the absence of a de novo purine nucleotide biosynthesis pathway. ..
  28. Johnson D. Adenine phosphoribosyltransferase genes in two Drosophila species: dosage compensation, a nuclear matrix attachment site, and a novel intron position. Mol Gen Genet. 1993;238:383-9 pubmed
    The Aprt locus of Drosophila encodes the structural gene for the purine salvage enzyme adenine phosphoribosyltransferase. Aprt is autosomal and enzyme activity is gene-dose-dependent in Drosophila melanogaster...
  29. Baranowska Bosiacka I, Dziedziejko V, Safranow K, Gutowska I, Marchlewicz M, Dołęgowska B, et al. Inhibition of erythrocyte phosphoribosyltransferases (APRT and HPRT) by Pb2+: a potential mechanism of lead toxicity. Toxicology. 2009;259:77-83 pubmed publisher
    ..Our results indicate the necessity of further research on the role of lead-induced APRT and HPRT inhibition as one of the mechanisms of lead toxicity. ..
  30. Fieldhouse D, Golding G. The rat adenine phosphoribosyltransferase sequence shows evolutionary rate variation among exons in rodents. Genome. 1993;36:1107-10 pubmed
    ..Rates of change in the exons do not appear to be strongly correlated with the rates of change in the introns. ..
  31. Ikeda H, Watanabe T, Fujimoto Y, Yamamoto S, Hosaki I, Isoyama K, et al. [The first case of adenine phosphoribosyltransferase deficiency with APRT*Q0 (M1I) mutation in Japan]. Hinyokika Kiyo. 2012;58:15-9 pubmed
    b>Adenine phosphoribosyltransferase (APRT) deficiency is an enzyme deficiency associated with purine metabolism, a hereditary disease that causes recurrent 2, 8-DHA stone formation due to a complete or partial APRT defect and slowly ..
  32. Kay A, Beutler E. The effect of ammonium, phosphate, potassium, and hypotonicity on stored red cells. Transfusion. 1992;32:37-41 pubmed
    ..Despite prolonged ATP maintenance by ammonium and phosphate-containing storage media, satisfactory viability of RBCs stored up to 77 days was not demonstrated in the rabbit transfusion model. ..
  33. Grunfeld J. Congenital/inherited kidney diseases: how to identify them early and how to manage them. Clin Exp Nephrol. 2005;9:192-4 pubmed
  34. Trouiller B, Charlot F, Choinard S, Schaefer D, Nogue F. Comparison of gene targeting efficiencies in two mosses suggests that it is a conserved feature of Bryophyte transformation. Biotechnol Lett. 2007;29:1591-8 pubmed
    ..We achieved a gene targeting efficiency of 20.8% for P. patens and 1.05% for C. purpureus. Our findings support the hypothesis that efficient gene targeting could be a general mechanism of Bryophyte transformation. ..
  35. Grygoryev D, Dan C, Gauny S, Eckelmann B, Ohlrich A, Connolly M, et al. Autosomal mutants of proton-exposed kidney cells display frequent loss of heterozygosity on nonselected chromosomes. Radiat Res. 2014;181:452-63 pubmed publisher
  36. Vernon H, Osborne C, Tzortzaki E, Yang M, Chen J, Rittling S, et al. Aprt/Opn double knockout mice: osteopontin is a modifier of kidney stone disease severity. Kidney Int. 2005;68:938-47 pubmed
    ..We examined the role of OPN in adenine phosphoribosyltransferase (Aprt) knockout mice, in which inflammation and formation of 2,8-dihydroxyadenine (DHA) kidney ..
  37. Mazur M, Glickman B. Sequence specificity of mutations induced by benzo[a]pyrene-7,8-diol-9,10-epoxide at endogenous aprt gene in CHO cells. Somat Cell Mol Genet. 1988;14:393-400 pubmed
    ..This class of sequence occurs at codon 61 of the human C-Ha-ras 1 protooncogene and may account for the selective activation of this codon by BPDE. ..
  38. Burkin D, Broad T, Lambeth M, Burkin H, Jones C. New gene assignments using a complete, characterized sheep-hamster somatic cell hybrid panel. Anim Genet. 1998;29:48-54 pubmed
    ..A synthase (HMGCS) to sheep chr 16; dihydrofolate reductase (DHFR) to sheep chr 5; and adenine phosphoribosyltransferase (APRT) to sheep chr 14...
  39. Moriwaki Y, Yamamoto T, Higashino K. Enzymes involved in purine metabolism--a review of histochemical localization and functional implications. Histol Histopathol. 1999;14:1321-40 pubmed publisher
  40. Hershey H, Taylor M. Purification of adenine phosphoribosyltransferase by affinity chromatography. Prep Biochem. 1978;8:453-62 pubmed
    The purine salvage pathway enzyme adenine phosphoribosyltransferase (AMP: pyrophosphate phosphoribosyltransferase EC 2.42...
  41. O Donovan P, Perrett C, Zhang X, Montaner B, Xu Y, Harwood C, et al. Azathioprine and UVA light generate mutagenic oxidative DNA damage. Science. 2005;309:1871-4 pubmed
    ..These findings may partly explain the prevalence of skin cancer in long-term survivors of organ transplantation. ..
  42. Yagisawa T, Yamazaki Y, Toma H, Kamatani N. Radiopaque 2,8-dihydroxyadenine lithiasis. Int Urol Nephrol. 1999;31:141-3 pubmed
    2,8-Dihydroxyadenine (DHA) lithiasis is a rare type of urinary stone disease and the deficiency of adenine phosphoribosyltransferase (APRT) activity is known to be the cause of this disease...
  43. Mehrotra S, Bopanna M, Bulusu V, Balaram H. Adenine metabolism in Plasmodium falciparum. Exp Parasitol. 2010;125:147-51 pubmed publisher
    ..hypoxanthine guanine phosphoribosyltransferase (HGPRT), with the enzymes, adenosine kinase and adenine phosphoribosyltransferase (APRT) being unannotated in the Plasmodium genome database...
  44. Nasr S, Sethi S, Cornell L, Milliner D, Boelkins M, Broviac J, et al. Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure. Nephrol Dial Transplant. 2010;25:1909-15 pubmed publisher
    ..also called 2,8 dihydroxyadeninuria) is a rare autosomal recessive disorder caused by complete adenine phosphoribosyltransferase deficiency and typically manifests as recurrent nephrolithiasis...
  45. Liang L, Deng L, Shao C, Stambrook P, Tischfield J. In vivo loss of heterozygosity in T-cells of B6C3F1 Aprt(+/-) mice. Environ Mol Mutagen. 2000;35:150-7 pubmed
    We have used B6C3F1 mice heterozygous at Aprt (adenine phosphoribosyltransferase) as a model to study in vivo loss of heterozygosity (LOH) in normal splenic T-lymphocytes...
  46. Shao C, Stambrook P, Tischfield J. Mitotic recombination is suppressed by chromosomal divergence in hybrids of distantly related mouse strains. Nat Genet. 2001;28:169-72 pubmed
    ..The suppression of mitotic recombination in some F1 hybrids in which meiotic recombination persists indicates that these processes are differentially affected by chromosomal divergence. ..
  47. Shin Darlak C, Skinner A, Turker M. A role for Pms2 in the prevention of tandem CC --> TT substitutions induced by ultraviolet radiation and oxidative stress. DNA Repair (Amst). 2005;4:51-7 pubmed
    ..We conclude that mismatch repair plays an important role in preventing tandem CC --> TT substitutions induced by certain genotoxin exposures. ..
  48. Adam T, Friedecky D, Fairbanks L, Sevcik J, Bartak P. Capillary electrophoresis for detection of inherited disorders of purine and pyrimidine metabolism. Clin Chem. 1999;45:2086-93 pubmed
    ..Capillary electrophoresis is a valuable screening tool in the detection of inborn errors of purine and pyrimidine metabolism. ..
  49. Guimarães D, Borges W, Kawano C, Ribeiro P, Goldman G, Nomizo A, et al. Biological activities from extracts of endophytic fungi isolated from Viguiera arenaria and Tithonia diversifolia. FEMS Immunol Med Microbiol. 2008;52:134-44 pubmed
    ..Nectriapyrone showed relevant cytotoxic activity against both human T leukemia and melanoma tumor cell lines. ..
  50. Bouzidi H, Lacour B, Daudon M. [2,8-dihydroxyadenine nephrolithiasis: from diagnosis to therapy]. Ann Biol Clin (Paris). 2007;65:585-92 pubmed
    b>Adenine phosphoribosyltransferase (APRT, EC deficiency is an enzymopathy of purine metabolism, which is inherited as an autosomal recessive trait...
  51. Hakoda M, Kamatani N, Terai C, Yamanaka H, Taniguchi A, Ueda H, et al. Similarity of in vivo somatic mutations at an autosomal adenine phosphoribosyltransferase locus between T- and B-cells in human peripheral blood. Mutat Res. 1996;357:107-13 pubmed
    ..this issue, we cloned, from human peripheral blood, T- and B-cells with mutations at an autosomal adenine phosphoribosyltransferase (APRT) locus...
  52. Sukrong S, Yun K, Stadler P, Kumar C, Facciuolo T, Moffatt B, et al. Improved growth and stress tolerance in the Arabidopsis oxt1 mutant triggered by altered adenine metabolism. Mol Plant. 2012;5:1310-32 pubmed publisher
    ..Oxt1 harbors a mutation that arises from the altered expression of a gene encoding adenine phosphoribosyltransferase (APT1), an enzyme that converts adenine to adenosine monophosphate (AMP), indicating a link between ..
  53. Lybak S, Pero R. The benzamide derivative metoclopramide causes DNA damage and inhibition of DNA repair in human peripheral mononuclear leukocytes at clinically relevant doses. Carcinogenesis. 1991;12:1613-7 pubmed
    ..The effect of MCA on DNA damage measured by nucleoid sedimentation has also been demonstrated in permeabilized cells. These data indicate that the DNA-damaging effect of MCA is not dependent on surface receptors or cytoplasmic processes...