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Adenine phosphoribosyltransferase information


APRT
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesAPRT, AMP, APRTD, adenine phosphoribosyltransferase
External IDsOMIM: 102600; MGI: 88061; HomoloGene: 413; GeneCards: APRT; OMA:APRT - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001030018
NM_000485

NM_009698

RefSeq (protein)

NP_000476
NP_001025189

NP_033828

Location (UCSC)Chr 16: 88.81 – 88.81 MbChr 8: 123.3 – 123.3 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Adenine phosphoribosyltransferase (APRTase) is an enzyme encoded by the APRT gene, found in humans on chromosome 16.[5] It is part of the Type I PRTase family and is involved in the nucleotide salvage pathway, which provides an alternative to nucleotide biosynthesis de novo in humans and most other animals.[6] In parasitic protozoa such as giardia, APRTase provides the sole mechanism by which AMP can be produced.[7] APRTase deficiency contributes to the formation of kidney stones (urolithiasis) and to potential kidney failure.[8]

The APRT gene is constituted by 5 exons (in blue). The start (ATG) and stop (TGA) codons are indicated (bold blue). CpG dinucleotides are emphasized in red. They are more abundant in the upstream region of the gene where they form a CpG island.
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000198931 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000006589 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Valaperta R, Rizzo V, Lombardi F, Verdelli C, Piccoli M, Ghiroldi A, Creo P, Colombo A, Valisi M, Margiotta E, Panella R, Costa E (1 July 2014). "Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation". BMC Nephrology. 15: 102. doi:10.1186/1471-2369-15-102. PMC 4094445. PMID 24986359.
  6. ^ Cite error: The named reference Silva_2008 was invoked but never defined (see the help page).
  7. ^ Sarver AE, Wang CC (Oct 2002). "The adenine phosphoribosyltransferase from Giardia lamblia has a unique reaction mechanism and unusual substrate binding properties". The Journal of Biological Chemistry. 277 (42): 39973–80. doi:10.1074/jbc.M205595200. PMID 12171924.
  8. ^ Shi W, Tanaka KS, Crother TR, Taylor MW, Almo SC, Schramm VL (Sep 2001). "Structural analysis of adenine phosphoribosyltransferase from Saccharomyces cerevisiae". Biochemistry. 40 (36): 10800–9. doi:10.1021/bi010465h. PMID 11535055.

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Adenine phosphoribosyltransferase

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Adenine phosphoribosyltransferase (APRTase) is an enzyme encoded by the APRT gene, found in humans on chromosome 16. It is part of the Type I PRTase family...

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Adenine phosphoribosyltransferase deficiency

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Adenine phosphoribosyltransferase deficiency is a rare autosomal recessive metabolic disorder caused by mutations of the APRT gene. Adenine phosphoribosyltransferase...

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A phosphoribosyltransferase is a type of transferase enzyme. Types include: Adenine phosphoribosyltransferase Hypoxanthine-guanine phosphoribosyltransferase...

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Nicotinamide adenine dinucleotide

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Nicotinamide adenine dinucleotide (NAD) is a coenzyme central to metabolism. Found in all living cells, NAD is called a dinucleotide because it consists...

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are two types of phosphoribosyltransferases: adenine phosphoribosyltransferase (APRT) and hypoxanthine-guanine phosphoribosyltransferase (HGPRT). HGPRT...

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Thiemann, Otavio H. (2008). "Structural Complexes of Human Adenine Phosphoribosyltransferase Reveal Novel Features of the APRT Catalytic Mechanism". Journal...

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Allopurinol

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amidotransferase; adenine phosphoribosyltransferase. It is also used to treat kidney stones caused by deficient activity of adenine phosphoribosyltransferase. Allopurinol...

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Nicotinamide phosphoribosyltransferase (NAmPRTase or NAMPT), formerly known as pre-B-cell colony-enhancing factor 1 (PBEF1) or visfatin for its extracellular...

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Purine metabolism

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nucleotides. The enzyme adenine phosphoribosyltransferase (APRT) salvages adenine. The enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT) salvages...

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nucleotide salvage. For example, adenine + PRPP --> AMP + PPi. This reaction requires the enzyme adenine phosphoribosyltransferase. Free guanine is salvaged...

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Kidney stone disease

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often produce stones composed of xanthine. People affected by adenine phosphoribosyltransferase deficiency may produce 2,8-dihydroxyadenine stones, alkaptonurics...

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In enzymology, a xanthine phosphoribosyltransferase (EC 2.4.2.22) is an enzyme that catalyzes the chemical reaction XMP + diphosphate ⇌ {\displaystyle...

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Urlaub, G; Chasin, L (1979). "DNA-mediated transfer of the adenine phosphoribosyltransferase locus into mammalian cells". Proceedings of the National Academy...

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transfer of a pentose. Examples include: adenine phosphoribosyltransferase hypoxanthine-guanine phosphoribosyltransferase pertussis toxin poly ADP ribose polymerase...

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APRT may refer to: Adenine phosphoribosyltransferase, an enzyme Adenine phosphoribosyltransferase deficiency, a genetic and metabolic disorder This disambiguation...

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Hypoxanthine-guanine phosphoribosyltransferase converts hypoxanthine into IMP in nucleotide salvage. Hypoxanthine is also a spontaneous deamination product of adenine. Because...

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consisting of one to three phosphates. The four nucleobases in DNA are guanine, adenine, cytosine, and thymine; in RNA, uracil is used in place of thymine. Nucleotides...

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phosphotransacetylase, adenylosuccinate synthase, adenine phosphoribosyltransferases, and guanine phosphoribosyltransferases. The human subjects experienced increases...

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the nucleic acid RNA. The others are adenine (A), cytosine (C), and guanine (G). In RNA, uracil binds to adenine via two hydrogen bonds. In DNA, the uracil...

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