Adénine phosphoribosyltransférase

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

AMP + pyrophosphate

\rightleftharpoons

adénine + 5-phospho-α-D-ribose-1-diphosphate.

Adénine phosphoribosyltransférase

Structure d'une APRT humaine (PDB 1ZN7[1])

Données clés
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

(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, n^o 6,‎ 2008, 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,‎ 1995, 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, n^o 4,‎ 1993, 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, n^o 5,‎ 1980, 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, n^os 3–4,‎ 1977, 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, n^o 1,‎ 1992, 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, n^o 6,‎ 1992, 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, n^o 1,‎ 1991, 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, n^o 1,‎ 1991, 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, n^o 24,‎ 1992, 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, n^o 6,‎ 1990, 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, n^o 2,‎ 1989, 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, n^o 3,‎ 1988, 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, n^o 29,‎ 1986, 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, n^o 10,‎ 1987, 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, n^o 5,‎ 1987, p. 1409–15 (PMID 3680503, PMCID 442397, DOI 10.1172/JCI113219)

(en) Hidaka Y, Tarlé SA, O'Toole TE, et al., « Nucleotide sequence of the human APRT gene », Nucleic Acids Res., vol. 15, n^o 21,‎ 1988, p. 9086 (PMID 3684585, PMCID 306432, DOI 10.1093/nar/15.21.9086)

(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, n^o 2,‎ 1993, 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, n^o 5,‎ 1994, p. 817–8 (PMID 7915931, DOI 10.1093/hmg/3.5.817)

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