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Gene Review

APRT  -  adenine phosphoribosyltransferase

Homo sapiens

Synonyms: AMP, APRTD, Adenine phosphoribosyltransferase
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Disease relevance of APRT


Psychiatry related information on APRT


High impact information on APRT


Chemical compound and disease context of APRT


Biological context of APRT


Anatomical context of APRT

  • In this paper, we report studies of 11 APRT-deficient lymphoblast cell lines [20].
  • However, the latter increment was not observed in APRT deficient erythrocytes [22].
  • At the APRT locus in CHO cells, 80-97% of spontaneous mutations are due to base-pair changes, the remainder being, mostly, partial deletions [23].
  • The exceptions are APRT mutations in CHO cells (16-20% of mutants with deletions or other changes) and HPRT mutations in T lymphocytes from A-bomb survivors (15-25%); the latter finding is consistent with the occurrence of in vivo selection against HPRT mutant cells [23].
  • Activities of HPRT, APRT and PNP were low before morula formation, and then increased until the blastocyst stage [24].

Associations of APRT with chemical compounds

  • The mouse cells lacked HPRT and were also deficient in adenine phosphoribosyltransferase (APRT; AMP: pyrophosphate phosphoribosyltransferase; EC2.4.2.7) [25].
  • Particularly striking is the distribution of CpG dinucleotides within human and rodent APRT genes [21].
  • This suggests that in recipient cells incorporation is due to [3H]MTA, which has been shown previously to be the major 3H-labeled purine metabolite to accumulate in B82 medium, being cleaved by MTAP to [3H]adenine, which is phosphoribosylated by APRT to [3H]AMP [26].
  • The core of APRT is similar to that of other phosphoribosyltransferases (PRTases), although the adenine-binding domain is quite different [2].
  • To address the molecular basis of DHA-urolithiasis, the recombinant human APRT was crystallized in complex with adenosine 5'-monophosphate (AMP) [2].

Regulatory relationships of APRT


Other interactions of APRT

  • Alanosine, an inhibitor of AMP synthesis, inhibited the growth of both MTAP(+) (Molt-4 and Molt-16) and MTAP(-) (CEM and HSB2) cell lines [28].
  • This study is apparently the first documentation of interstitial deletion of 16q24.3, involving GALNS and APRT genes [29].
  • Using both simulations and analysis of real data from murids (APRT and LCAT nuclear genes), we show that comparing large numbers of species significantly improves the power of the test [30].
  • Polyethylene glycol-1000 (PEG-1000) induced fusion of HPRT (E.C. deficient Chinese hamster cells with alpha-galactosidase A (E.C. deficient cells from a patient with Fabry's disease yielded hybrids which contained both human and hamster HPRT, G6PD (E.C., and APRT (E.C. and Chinese hamster alpha-galactosidase B [31].
  • We describe methods both for targeted gene knockout of ERCC1, and for APRT targeted gene correction by homologous recombination, and some of our experimental results using these approaches [32].

Analytical, diagnostic and therapeutic context of APRT


  1. Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. Kamatani, N., Hakoda, M., Otsuka, S., Yoshikawa, H., Kashiwazaki, S. J. Clin. Invest. (1992) [Pubmed]
  2. Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis. Silva, M., Silva, C.H., Iulek, J., Thiemann, O.H. Biochemistry (2004) [Pubmed]
  3. 2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT. Deng, L., Yang, M., Fründ, S., Wessel, T., De Abreu, R.A., Tischfield, J.A., Sahota, A. Mol. Genet. Metab. (2001) [Pubmed]
  4. Polymerase chain reaction amplification and sequence analysis of human mutant adenine phosphoribosyltransferase genes: the nature and frequency of errors caused by Taq DNA polymerase. Chen, J., Sahota, A., Stambrook, P.J., Tischfield, J.A. Mutat. Res. (1991) [Pubmed]
  5. Purine metabolizing enzymes in lymphocytes from patients with solid tumors. Mejer, J., Hørbov, S., Nygaard, P. Acta medica Scandinavica. (1984) [Pubmed]
  6. Hypoxanthine guanine phosphoribosyltransferase (HGPRT) in Gilles de la Tourette syndrome. Merril, C.R., Leavitt, J., Van Keuren, M.L., Ebert, M.H., Caine, E.D. Neurology (1979) [Pubmed]
  7. HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome. Engle, S.J., Womer, D.E., Davies, P.M., Boivin, G., Sahota, A., Simmonds, H.A., Stambrook, P.J., Tischfield, J.A. Hum. Mol. Genet. (1996) [Pubmed]
  8. Biochemical regulation of mammalian AMP-activated protein kinase activity by NAD and NADH. Rafaeloff-Phail, R., Ding, L., Conner, L., Yeh, W.K., McClure, D., Guo, H., Emerson, K., Brooks, H. J. Biol. Chem. (2004) [Pubmed]
  9. Role of TYR70 in the N-glycosidase activity of neo-trichosanthin. Yan, L., Wu, S., Li, H.G., Li, J.H., Wong, R.N., Shi, Q.L., Dong, Y.C. Toxicon (1999) [Pubmed]
  10. Post-receptor signaling pathways in the pathophysiology and treatment of mood disorders. Manji, H.K., Chen, G. Current psychiatry reports. (2000) [Pubmed]
  11. Complete deficiency of adenine phosphoribosyltransferase. Report of a family. Van Acker, K.J., Simmonds, H.A., Potter, C., Cameron, J.S. N. Engl. J. Med. (1977) [Pubmed]
  12. Characterization of a cell culture model for the study of adenosine deaminase- and purine nucleoside phosphorylase-deficient immunologic disease. Ullman, B., Cohen, A., Martin, D.W. Cell (1976) [Pubmed]
  13. Atomic structure of ferredoxin-NADP+ reductase: prototype for a structurally novel flavoenzyme family. Karplus, P.A., Daniels, M.J., Herriott, J.R. Science (1991) [Pubmed]
  14. Altering genotype and phenotype by DNA-mediated gene transfer. Pellicer, A., Robins, D., Wold, B., Sweet, R., Jackson, J., Lowy, I., Roberts, J.M., Sim, G.K., Silverstein, S., Axel, R. Science (1980) [Pubmed]
  15. Human adenine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme. Wilson, J.M., O'Toole, T.E., Argos, P., Shewach, D.S., Daddona, P.E., Kelley, W.N. J. Biol. Chem. (1986) [Pubmed]
  16. Nucleotide release provides a mechanism for airway surface liquid homeostasis. Lazarowski, E.R., Tarran, R., Grubb, B.R., van Heusden, C.A., Okada, S., Boucher, R.C. J. Biol. Chem. (2004) [Pubmed]
  17. Homozygous deletion of CDKN2A and codeletion of the methylthioadenosine phosphorylase gene in the majority of pleural mesotheliomas. Illei, P.B., Rusch, V.W., Zakowski, M.F., Ladanyi, M. Clin. Cancer Res. (2003) [Pubmed]
  18. Erythrocyte adenosine deaminase, purine nucleoside phosphorylase and phosphoribosyltransferase activity in patients with Down's syndrome. Puukka, R., Puukka, M., Leppilampi, M., Linna, S.L., Kouvalainen, K. Clin. Chim. Acta (1982) [Pubmed]
  19. Normal thermostability of hypoxanthine guanine phosphoribosyltransferase in erythrocytes from Werner's syndrome patients. Takeuchi, F., Goto, M., Miyamoto, T. Gerontology. (1986) [Pubmed]
  20. Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese. Hidaka, Y., Tarlé, S.A., Fujimori, S., Kamatani, N., Kelley, W.N., Palella, T.D. J. Clin. Invest. (1988) [Pubmed]
  21. Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement. Broderick, T.P., Schaff, D.A., Bertino, A.M., Dush, M.K., Tischfield, J.A., Stambrook, P.J. Proc. Natl. Acad. Sci. U.S.A. (1987) [Pubmed]
  22. Effects of adenosine analogues on ATP concentrations in human erythrocytes. Further evidence for a route independent of adenosine kinase. Smolenski, R.T., Montero, C., Duley, J.A., Simmonds, H.A. Biochem. Pharmacol. (1991) [Pubmed]
  23. Ionizing radiation and genetic risks. III. Nature of spontaneous and radiation-induced mutations in mammalian in vitro systems and mechanisms of induction of mutations by radiation. Sankaranarayanan, K. Mutat. Res. (1991) [Pubmed]
  24. Enzymes of purine salvage and catabolism in the mouse preimplantation embryo measured by high performance liquid chromatography. Alexiou, M., Leese, H.J. J. Reprod. Fertil. (1994) [Pubmed]
  25. Localized Derepression on the Human Inactive X Chromosone in Mouse-Human Cell Hybrids. Kahan, B., DeMars, R. Proc. Natl. Acad. Sci. U.S.A. (1975) [Pubmed]
  26. Transfer of purine metabolites between cells through the medium and via cell contacts in cocultures of HGPRT+ and HGPRT- cells. Bols, N.C., Mosser, D.D., Boliska, S.A. Exp. Cell Res. (1987) [Pubmed]
  27. A new location for the human adenine phosphoribosyltransferase gene (APRT) distal to the haptoglobin (HP) and fra(16)(q23)(FRA16D) loci. Fratini, A., Simmers, R.N., Callen, D.F., Hyland, V.J., Tischfield, J.A., Stambrook, P.J., Sutherland, G.R. Cytogenet. Cell Genet. (1986) [Pubmed]
  28. Frequent deletion in the methylthioadenosine phosphorylase gene in T-cell acute lymphoblastic leukemia: strategies for enzyme-targeted therapy. Batova, A., Diccianni, M.B., Nobori, T., Vu, T., Yu, J., Bridgeman, L., Yu, A.L. Blood (1996) [Pubmed]
  29. Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease. Fukuda, S., Tomatsu, S., Masuno, M., Ogawa, T., Yamagishi, A., Rezvi, G.M., Sukegawa, K., Shimozawa, N., Suzuki, Y., Kondo, N., Imaizumi, K., Kuroki, Y., Okabe, T., Orii, T. Hum. Mutat. (1996) [Pubmed]
  30. Sensitivity of the relative-rate test to taxonomic sampling. Robinson, M., Gouy, M., Gautier, C., Mouchiroud, D. Mol. Biol. Evol. (1998) [Pubmed]
  31. Reexpression of HPRT activity following cell fusion with polyethylene glycol. Bakay, B., Graf, M., Carey, S., Nissinen, E., Nyhan, W.L. Biochem. Genet. (1978) [Pubmed]
  32. Use of gene targeting to study recombination in mammalian cell DNA repair mutants. Nairn, R.S., Adair, G.M. Methods Mol. Biol. (2006) [Pubmed]
  33. Molecular genetics of human chromosome 16. Sutherland, G.R., Reeders, S., Hyland, V.J., Callen, D.F., Fratini, A., Mulley, J.C. J. Med. Genet. (1987) [Pubmed]
  34. Regulation of human neutrophil functions by adenine nucleotides. McGarrity, S.T., Stephenson, A.H., Webster, R.O. J. Immunol. (1989) [Pubmed]
  35. Coordinate induction of AMP deaminase in human atrium with mitochondrial DNA deletion. Tomikura, Y., Hisatome, I., Tsuboi, M., Yamawaki, M., Shimoyama, M., Yamamoto, Y., Sasaki, N., Ogino, K., Igawa, O., Shigemasa, C., Ishiguro, S., Ohgi, S., Nanba, E., Shiota, G., Morisaki, H., Morisaki, T., Kitakaze, M. Biochem. Biophys. Res. Commun. (2003) [Pubmed]
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