APRTase

• アデニンホスホリボシル転移酵素

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adenine phosphoribosyltransferase

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/05/26 12:08:33」(JST)

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Adenine phosphoribosyltransferase
Ribbon diagram of a human APRT dimer, in complex with PRPP, adenine and ribose 5-phosphate. One magnesium ion visible in green. From PDB 1ZN7.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1OPU, 1ORE, 1ZN7, 1ZN8, 1ZN9
Identifiers
Symbols	APRT ; AMP; APRTD
External IDs	OMIM: 102600 MGI: 88061 HomoloGene: 413 GeneCards: APRT Gene
EC number	2.4.2.7
Gene ontology Molecular function • adenine binding • adenine phosphoribosyltransferase activity • AMP binding Cellular component • nucleus • nucleolus • cytoplasm • cytosol • extracellular vesicular exosome Biological process • purine nucleobase metabolic process • purine ribonucleoside salvage • adenine salvage • lactation • grooming behavior • cellular response to insulin stimulus • purine-containing compound salvage • AMP salvage • small molecule metabolic process • nucleobase-containing small molecule metabolic process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	353	11821
Ensembl	ENSG00000198931	ENSMUSG00000006589
UniProt	P07741	P08030
RefSeq (mRNA)	NM_000485	NM_009698
RefSeq (protein)	NP_000476	NP_033828
Location (UCSC)	Chr 16: 88.88 – 88.88 Mb	Chr 8: 122.57 – 122.58 Mb
PubMed search	[1]	[2]

Adenine phosphoribosyltransferase is an enzyme that in humans is encoded by the APRT gene.

Function

APRTase is an enzyme involved in the purine nucleotide salvage pathway. It functions as a catalyst in the reaction between adenine and phosphoribosyl pyrophosphate (PRPP) to form AMP.

APRT is functionally related to hypoxanthine-guanine phosphoribosyltransferase (HPRT).

Pathology

Deficiency of APRT in human beings may lead to kidney stones formed of adenine and salts.

2,8-Dihydroxy-adenine urolithiasis is also known as "adenine phosphoribosyltransferase deficiency".

Adenine phosphoribosyltransferase (APRT) deficiency is an uncommon genetic disorder that often causes kidney stones, and in some patients kidney failure. More than 300 individuals with this disease have been reported world-wide but it is not known how common this medical problem truly is. Patients with the disease deficiency lack the enzyme adenine phosphoribosyltransferase and therefore have difficulties breaking down purines. This may result in the accumulation 2,8-dihydroxyadenine (2,8-DHA) that is excreted by the kidneys. 2,8-DHA is poorly soluble in the urine leads to the formation of kidney stones and kidney injury.

Interestingly, up to 70% of affected patients, have red hair or relatives with this hair color.

References

Further reading

• Tischfield JA, Engle SJ, Gupta PK et al. (1995). "Germline and somatic mutation at the APRT locus of mice and man.". Adv. Exp. Med. Biol. 370: 661–4. PMID 7660991. 
• Takeuchi H, Kaneko Y, Fujita J, Yoshida O (1993). "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. 149 (4): 824–6. PMID 8455250. 
• Ludwig H, Kuzmits R, Pietschmann H, Müller MM (1980). "Enzymes of the purine interconversion system in chronic lymphatic leukemia: decreased purine nucleoside phosphorylase and adenosine deaminase activity.". Blut 39 (5): 309–15. doi:10.1007/BF01014193. PMID 116697. 
• Johnson LA, Gordon RB, Emmerson BT (1977). "Adenine phosphoribosyltransferase: a simple spectrophotometric assay and the incidence of mutation in the normal population.". Biochem. Genet. 15 (3–4): 265–72. doi:10.1007/BF00484458. PMID 869896. 
• Kamatani N, Hakoda M, Otsuka S et al. (1992). "Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients". J. Clin. Invest. 90 (1): 130–5. doi:10.1172/JCI115825. PMC 443071. PMID 1353080. 
• Chen J, Sahota A, Laxdal T et al. (1992). "Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient". Am. J. Hum. Genet. 49 (6): 1306–11. PMC 1686459. PMID 1746557. 
• Mimori A, Hidaka Y, Wu VC et al. (1991). "A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects". Am. J. Hum. Genet. 48 (1): 103–7. PMC 1682758. PMID 1985452. 
• Chen J, Sahota A, Stambrook PJ, Tischfield JA (1991). "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. 249 (1): 169–76. doi:10.1016/0027-5107(91)90143-C. PMID 2067530. 
• Gathof BS, Sahota A, Gresser U et al. (1992). "Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family". Klin. Wochenschr. 69 (24): 1152–5. doi:10.1007/BF01815434. PMID 2135300. 
• Kamatani N, Kuroshima S, Hakoda M et al. (1990). "Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation". Hum. Genet. 85 (6): 600–4. doi:10.1007/BF00193582. PMID 2227951. 
• Kamatani N, Kuroshima S, Terai C et al. (1989). "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. 45 (2): 325–31. PMC 1683345. PMID 2502918. 
• Hidaka Y, Tarlé SA, Fujimori S et al. (1988). "Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese". J. Clin. Invest. 81 (3): 945–50. doi:10.1172/JCI113408. PMC 442550. PMID 3343350. 
• Wilson JM, O'Toole TE, Argos P et al. (1986). "Human adenine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme". J. Biol. Chem. 261 (29): 13677–83. PMID 3531209. 
• Broderick TP, Schaff DA, Bertino AM et al. (1987). "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. 84 (10): 3349–53. doi:10.1073/pnas.84.10.3349. PMC 304867. PMID 3554238. 
• Hidaka Y, Palella TD, O'Toole TE et al. (1987). "Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme". J. Clin. Invest. 80 (5): 1409–15. doi:10.1172/JCI113219. PMC 442397. PMID 3680503. 
• Hidaka Y, Tarlé SA, O'Toole TE et al. (1988). "Nucleotide sequence of the human APRT gene". Nucleic Acids Res. 15 (21): 9086. doi:10.1093/nar/15.21.9086. PMC 306432. PMID 3684585. 
• Chen J, Sahota A, Martin GF et al. (1993). "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. 287 (2): 217–25. doi:10.1016/0027-5107(93)90014-7. PMID 7685481. 
• Sahota A, Chen J, Boyadjiev SA et al. (1994). "Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis". Hum. Mol. Genet. 3 (5): 817–8. doi:10.1093/hmg/3.5.817. PMID 7915931. 

External links

• Adenine phosphoribosyltransferase at the US National Library of Medicine Medical Subject Headings (MeSH)

English Journal

• Regenerative Neurogenesis After Ischemic Stroke Promoted by Nicotinamide Phosphoribosyltransferase-Nicotinamide Adenine Dinucleotide Cascade.

• Zhao Y1, Guan YF1, Zhou XM1, Li GQ1, Li ZY1, Zhou CC1, Wang P2, Miao CY2.
• Stroke; a journal of cerebral circulation.Stroke.2015 Jul;46(7):1966-74. doi: 10.1161/STROKEAHA.115.009216. Epub 2015 Jun 9.
• BACKGROUND AND PURPOSE: Nicotinamide adenine dinucleotide (NAD) is a ubiquitous fundamental metabolite. Nicotinamide phosphoribosyltransferase (Nampt) is the rate-limiting enzyme for mammalian NAD salvage synthesis and has been shown to protect against acute ischemic stroke. In this study, we invest
• PMID 26060246

• Inhibition of Nicotinamide Phosphoribosyltransferase (NAMPT), an Enzyme Essential for NAD+ Biosynthesis, Leads to Altered Carbohydrate Metabolism in Cancer Cells.

• Tan B1, Dong S2, Shepard RL2, Kays L2, Roth KD1, Geeganage S2, Kuo MS3, Zhao G4.
• The Journal of biological chemistry.J Biol Chem.2015 Jun 19;290(25):15812-24. doi: 10.1074/jbc.M114.632141. Epub 2015 May 5.
• Nicotinamide phosphoribosyltransferase (NAMPT) has been extensively studied due to its essential role in NAD(+) biosynthesis in cancer cells and the prospect of developing novel therapeutics. To understand how NAMPT regulates cellular metabolism, we have shown that the treatment with FK866, a specif
• PMID 25944913

• Adenine phosphoribosyltransferase deficiency as a cause of renal failure.

• Sharma A1, Jayaballa M, Ng T, Tchan M, Vucak-Dzumhur M.
• Nephrology (Carlton, Vic.).Nephrology (Carlton).2015 Jun;20(6):439-40. doi: 10.1111/nep.12412.
• PMID 25900388

Japanese Journal

• Studies on Enzymological Abnormalities of Blood Cells obtained from a Case of 2, 8-Dihydroxyadenine Urolithiasis

• 加川 大三郎,中村 徹,上田 孝典,安藤 精章,久保 明美,笹田 昌孝,内野 治人,内田 三千彦,樋口 富彦,野呂 忠夫
• Uric acid research 7(1), 77-85, 1983
• … Blood sample obtained from a girl of 7 years old who received a diagnosis of urolithiasis of 2,8-dihydroxyadenine was subjected for enzymological studies on purine nucleotide biosynthesis including APRTase, HGPRTase, PRPPsynthetase.<BR>APRTase activity in erythrocyt e s was 0.45nmoles/mg prot. …
• NAID 130003354873

Related Links

• What does APRTASE stand for?

1 meanings of APRTASE acronym and APRTASE abbreviation. Get the definition of APRTASE by All Acronyms dictionary. Top Definition: Adenine phosphoribosyltransferase. ... Most Popular APA All Acronyms. 2015. APRTase.

• APRTase

APRTase-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 2.4.2.7.

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