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Adenine Phosphoribosyltransferase (APRT)

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AMP; APRTase

Adenine Phosphoribosyltransferase (APRT)
CCC C310
HGNC 626
MGI 88061
PubMed 18399692
RGD 1307758
UniProt P07741
Wiki 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 NAME APPLICATIONS
Proteins RPC310Hu01 Recombinant Adenine Phosphoribosyltransferase (APRT) Positive Control; Immunogen; SDS-PAGE; WB.
APC310Hu01 Active Adenine Phosphoribosyltransferase (APRT) Cell culture; Activity Assays.
Antibodies PAC310Hu01 Polyclonal Antibody to Adenine Phosphoribosyltransferase (APRT) WB; IHC; ICC; IP.
MAC310Hu22 Monoclonal Antibody to Adenine Phosphoribosyltransferase (APRT) WB; IHC; ICC; IP.
Assay Kits SEC310Hu ELISA Kit for Adenine Phosphoribosyltransferase (APRT) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Adenine Phosphoribosyltransferase (APRT) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Adenine Phosphoribosyltransferase (APRT) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Adenine Phosphoribosyltransferase (APRT) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Adenine Phosphoribosyltransferase (APRT) CLIA Kit Customized Service Offer
n/a ELISA Kit for Adenine Phosphoribosyltransferase (APRT) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Adenine Phosphoribosyltransferase (APRT) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Adenine Phosphoribosyltransferase (APRT) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Adenine Phosphoribosyltransferase (APRT) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Adenine Phosphoribosyltransferase (APRT) CLIA Kit Customized Service Offer
n/a ELISA 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]
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  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]