Adenine Phosphoribosyltransferase (APRT)

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AMP; APRTase

Adenine Phosphoribosyltransferase (APRT)
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. APRTase is labeled as EC 2.4.2.7. APRT is functionally related to hypoxanthine-guanine phosphoribosyltransferase (HPRT).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".
Defects in APRT are the cause of APRT deficiency; also known as 2,8-dihydroxyadenine urolithiasis. It is an autosomal recessive disease characterized by renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones.

Organism species: Homo sapiens (Human)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
ProteinsRPC310Hu01Recombinant Adenine Phosphoribosyltransferase (APRT)SDS-PAGE; WB; ELISA; IP.
AntibodiesPAC310Hu01Polyclonal Antibody to Adenine Phosphoribosyltransferase (APRT)WB, ICC, IHC-P, IHC-F, ELISA
MAC310Hu22Monoclonal Antibody to Adenine Phosphoribosyltransferase (APRT)WB, ICC, IHC-P, IHC-F, ELISA
Assay KitsSEC310HuELISA Kit for Adenine Phosphoribosyltransferase (APRT)Enzyme-linked immunosorbent assay for Antigen Detection

Organism species: Mus musculus (Mouse)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Adenine Phosphoribosyltransferase (APRT)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Adenine Phosphoribosyltransferase (APRT)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Adenine Phosphoribosyltransferase (APRT)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Adenine Phosphoribosyltransferase (APRT)CLIA Kit Customized Service Offer
n/aELISA Kit for Adenine Phosphoribosyltransferase (APRT)ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Adenine Phosphoribosyltransferase (APRT)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Adenine Phosphoribosyltransferase (APRT)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Adenine Phosphoribosyltransferase (APRT)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Adenine Phosphoribosyltransferase (APRT)CLIA Kit Customized Service Offer
n/aELISA Kit for Adenine Phosphoribosyltransferase (APRT)ELISA Kit Customized Service Offer
  1. "Nucleotide sequence of the human APRT gene."Nucleic Acids Res. 15:9086-9086(1987) [PubMed] [Europe PMC] [Abstract]
  2. "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. 84:3349-3353(1987) [PubMed] [Europe PMC] [Abstract]
  3. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  4. "The sequence and analysis of duplication-rich human chromosome 16." Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Human adenine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme."J. Biol. Chem. 261:13677-13683(1986) [PubMed] [Europe PMC] [Abstract]
  7. "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides."Nat. Biotechnol. 21:566-569(2003) [PubMed] [Europe PMC] [Abstract]
  8. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
  9. "Large-scale proteomics analysis of the human kinome."Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
  10. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
  11. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  12. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
  13. "N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
  14. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  15. "Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis."Biochemistry 43:7663-7671(2004) [PubMed] [Europe PMC] [Abstract]
  16. "Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient."Am. J. Hum. Genet. 49:1306-1311(1991) [PubMed] [Europe PMC] [Abstract]
  17. "Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis."Hum. Mol. Genet. 3:817-818(1994) [PubMed] [Europe PMC] [Abstract]
  18. "Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme."J. Clin. Invest. 80:1409-1415(1987) [PubMed] [Europe PMC] [Abstract]
  19. "Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese."J. Clin. Invest. 81:945-950(1988) [PubMed] [Europe PMC] [Abstract]
  20. "Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients."J. Clin. Invest. 90:130-135(1992) [PubMed] [Europe PMC] [Abstract]
  21. "2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT."Mol. Genet. Metab. 72:260-264(2001) [PubMed] [Europe PMC] [Abstract]
  22. "Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis."Nucleosides Nucleotides Nucleic Acids 23:1141-1145(2004) [PubMed] [Europe PMC] [Abstract]
  23. "A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene."Acta Paediatr. 100:E285-E288(2011) [PubMed] [Europe PMC] [Abstract]