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Adénine phosphoribosyltransférase

L'adénine phosphoribosyltransférase (APRT) est une glycosyltransférase qui catalyse la réaction :

AMP + pyrophosphate adénine + 5-phospho-α-D-ribose-1-diphosphate.
Adénine phosphoribosyltransférase
Description de cette image, également commentée ci-après
Structure d'une APRT humaine (PDB 1ZN7[1])
N° EC EC 2.4.2.7
N° CAS 9027-80-9
Activité enzymatique
IUBMB Entrée IUBMB
IntEnz Vue IntEnz
BRENDA Entrée BRENDA
KEGG Entrée KEGG
MetaCyc Voie métabolique
PRIAM Profil
PDB RCSB PDB PDBe PDBj PDBsum
GO AmiGO / EGO

Cette enzyme intervient dans la voie de sauvetage des purines. Elle est fonctionnellement apparentée à l'hypoxanthine-guanine phosphoribosyltransférase (HGPRT).

Notes et références
  1. (en) Carlos H. T. P. Silva, Marcio Silva, Jorge Iulek et Otavio H. Thiemann, « Structural Complexes of Human Adenine Phosphoribosyltransferase Reveal Novel Features of the APRT Catalytic Mechanism », Journal of Biomolecular Structure and Dynamics, vol. 25, no 6,‎ , p. 589-597 (lire en ligne) DOI 10.1080/07391102.2008.10507205 PMID 18399692
  • (en) Tischfield JA, Engle SJ, Gupta PK, et al., « Germline and somatic mutation at the APRT locus of mice and man. », Adv. Exp. Med. Biol., vol. 370,‎ , p. 661–4 (PMID 7660991)
  • (en) Takeuchi H, Kaneko Y, Fujita J, Yoshida O, « A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan. », J. Urol., vol. 149, no 4,‎ , p. 824–6 (PMID 8455250)
  • (en) Ludwig H, Kuzmits R, Pietschmann H, Müller MM, « Enzymes of the purine interconversion system in chronic lymphatic leukemia: decreased purine nucleoside phosphorylase and adenosine deaminase activity. », Blut, vol. 39, no 5,‎ , p. 309–15 (PMID 116697, DOI 10.1007/BF01014193)
  • (en) Johnson LA, Gordon RB, Emmerson BT, « Adenine phosphoribosyltransferase: a simple spectrophotometric assay and the incidence of mutation in the normal population. », Biochem. Genet., vol. 15, nos 3–4,‎ , p. 265–72 (PMID 869896, DOI 10.1007/BF00484458)
  • (en) Kamatani N, Hakoda M, Otsuka S, et al., « Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients », J. Clin. Invest., vol. 90, no 1,‎ , p. 130–5 (PMID 1353080, PMCID 443071, DOI 10.1172/JCI115825)
  • (en) Chen J, Sahota A, Laxdal T, 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., vol. 49, no 6,‎ , p. 1306–11 (PMID 1746557, PMCID 1686459)
  • (en) Mimori A, Hidaka Y, Wu VC, et al., « A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects », Am. J. Hum. Genet., vol. 48, no 1,‎ , p. 103–7 (PMID 1985452, PMCID 1682758)
  • (en) Chen J, Sahota A, Stambrook PJ, Tischfield JA, « Polymerase chain reaction amplification and sequence analysis of human mutant adenine phosphoribosyltransferase genes: the nature and frequency of errors caused by Taq DNA polymerase », Mutat. Res., vol. 249, no 1,‎ , p. 169–76 (PMID 2067530, DOI 10.1016/0027-5107(91)90143-C)
  • (en) Gathof BS, Sahota A, Gresser U, et al., « Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family », Klin. Wochenschr., vol. 69, no 24,‎ , p. 1152–5 (PMID 2135300, DOI 10.1007/BF01815434)
  • (en) Kamatani N, Kuroshima S, Hakoda M, et al., « Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation », Hum. Genet., vol. 85, no 6,‎ , p. 600–4 (PMID 2227951, DOI 10.1007/BF00193582)
  • (en) Kamatani N, Kuroshima S, Terai C, et al., « Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage », Am. J. Hum. Genet., vol. 45, no 2,‎ , p. 325–31 (PMID 2502918, PMCID 1683345)
  • (en) Hidaka Y, Tarlé SA, Fujimori S, et al., « Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese », J. Clin. Invest., vol. 81, no 3,‎ , p. 945–50 (PMID 3343350, PMCID 442550, DOI 10.1172/JCI113408)
  • (en) Wilson JM, O'Toole TE, Argos P, et al., « Human adenine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme », J. Biol. Chem., vol. 261, no 29,‎ , p. 13677–83 (PMID 3531209)
  • (en) Broderick TP, Schaff DA, Bertino AM, et al., « Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement », Proc. Natl. Acad. Sci. U.S.A., vol. 84, no 10,‎ , p. 3349–53 (PMID 3554238, PMCID 304867, DOI 10.1073/pnas.84.10.3349)
  • (en) Hidaka Y, Palella TD, O'Toole TE, et al., « Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme », J. Clin. Invest., vol. 80, no 5,‎ , p. 1409–15 (PMID 3680503, PMCID 442397, DOI 10.1172/JCI113219)
  • (en) Chen J, Sahota A, Martin GF, et al., « Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: mutational hot spots at the intron 4 splice donor site and at codon 87 », Mutat. Res., vol. 287, no 2,‎ , p. 217–25 (PMID 7685481, DOI 10.1016/0027-5107(93)90014-7)
  • (en) Sahota A, Chen J, Boyadjiev SA, et al., « Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis », Hum. Mol. Genet., vol. 3, no 5,‎ , p. 817–8 (PMID 7915931, DOI 10.1093/hmg/3.5.817)


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