同: APRT

WordNet

(biochemistry) purine base found in DNA and RNA; pairs with thymine in DNA and with uracil in RNA (同)A

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アデニン(肝臓・茶の葉から採れる塩基の一種)

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/03/18 04:37:21」(JST)

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Adenine phosphoribosyltransferase is an enzyme that in humans is encoded by the APRT gene.^[1]

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 dietary substances called purines, resulting in accumulation of a compound called 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

^ "Entrez Gene: APRT adenine phosphoribosyltransferase". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=353.

External links

MeSH Adenine+phosphoribosyltransferase

UpToDate Contents

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2. 尿酸による腎疾患 uric acid renal diseases
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5. 免疫グロブリンの機能および臨床応用 function and clinical applications of immunoglobulins

English Journal

Induction of DNA Demethylation Depending on Two Sets of Sox2 and Adjacent Oct3/4 Binding Sites (Sox-Oct Motifs) within the Mouse H19/Insulin-like Growth Factor 2 (Igf2) Imprinted Control Region.

Hori N, Yamane M, Kouno K, Sato K.SourceFrom the Division of Molecular Biology, Faculty of Medicine, Department of Molecular and Cellular Biology, School of Life Sciences and.
The Journal of biological chemistry.J Biol Chem.2012 Dec 21;287(52):44006-16. doi: 10.1074/jbc.M112.424580. Epub 2012 Oct 31.
DNA demethylation is used to establish and maintain an unmethylated state. The molecular mechanisms to induce DNA demethylation at a particular genomic locus remain unclear. The mouse H19/insulin-like growth factor 2 (Igf2) imprinted control region (ICR) is a methylation state-sensitive insulator th
PMID 23115243

Quinolinate salvage and insights for targeting NAD biosynthesis in group A Streptococci.

Sorci L, Blaby IK, Rodionova IA, De Ingeniis J, Tkachenko S, de Crécy-Lagard V, Osterman AL.SourceSanford-Burnham Medical Research Institute, La Jolla, California, USA.
Journal of bacteriology.J Bacteriol.2012 Nov 30. [Epub ahead of print]
The essential coenzyme nicotinamide adenine dinucleotide (NAD) plays important roles in metabolic reactions and cell regulation in all organisms. As such NAD synthesis has been investigated as a source for novel antibacterial targets. Cross-species genomics-based reconstructions of NAD metabolism in
PMID 23204464

Down-regulation of NAMPT expression by miR-182 is involved in Tat-induced HIV-1 long terminal repeat (LTR) transactivation.

Chen XY, Zhang HS, Wu TC, Sang WW, Ruan Z.SourceCollege of Life Science & Bioengineering, Beijing University of Technology, Pingleyuan 100#, District of Chaoyang, Beijing 100124, China.
The international journal of biochemistry & cell biology.Int J Biochem Cell Biol.2012 Nov 12;45(2):292-298. doi: 10.1016/j.biocel.2012.11.002. [Epub ahead of print]
Tat's transactivating activity is controlled by sirtuin 1 (SIRT1) that connects HIV transcription with the metabolic state of the cell. Nicotinamide phosphoribosyltransferase (NAMPT) is a key enzyme in the salvaging pathway for the synthesis of nicotinamide adenine dinucleotide (NAD(+)) that is invo
PMID 23153509

Japanese Journal

本邦初のAPRT*Q0(M1V)変異によるAPRT欠損症の1例

池田裕一,渡辺常樹,藤本陽子 [他]
泌尿器科紀要 57(1), 15-19, 2011-01
… revised versionのpdfは、泌尿器科紀要vol.58 no.7 p.365-(2012年7月発行)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 damages the renal function. …
NAID 40019362669

Adenine phosphoribosyltransferase欠損症による小児2,8-dihydroxyadenine結石の1例

高尾智也,河崎正裕
日本小児外科学会雑誌 46(5), 880-883, 2010-08-20
… 症例は1歳11か月の女児で尿路感染を主訴に紹介された.腹部CTで,放射線透過性の尿路結石嵌頓による両側水腎症を認め緊急腎瘻造設術と経尿道的尿管結石破砕術を行った.結石は2,8-dihydroxyadenineと分析された.またPCR法による遺伝子検査でadenine phosphoribosyltransferase欠損症と診断された.両側水腎症はESWLで改善したが,結石は残存している.現在,少量アロプリノール内服で経過観察中である. …
NAID 110007682260

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★リンクテーブル★

リンク元	「アデニンホスホリボシルトランスフェラーゼ」「APRT」「APRTase」「APRT deficiency」
関連記事	「phosphoribosyltransferase」

「アデニンホスホリボシルトランスフェラーゼ」

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
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; • transferase activity, transferring glycosyl groups;
Cellular component	• nucleus; • nucleolus; • cytoplasm; • cytoplasm; • cytosol;
Biological process	• purine base metabolic process; • purine ribonucleoside salvage; • adenine salvage; • lactation; • grooming behavior; • nucleoside metabolic process; • purine-containing compound salvage; • small molecule metabolic process; • nucleobase-containing small molecule metabolic process;
	Sources: Amigo / QuickGO
RNA expression pattern
	More reference expression data
Orthologs
	This box: view; talk; edit;