Adenine phosphoribosyltransferase
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Adenine phosphoribosyltransferase
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| 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: 1ore, 1zn7, 1zn8, 1zn9 | ||||||||||||||
| Identifiers | ||||||||||||||
| Symbol(s) | APRT; AMP; DKFZp686D13177; MGC125856; MGC125857; MGC129961 | |||||||||||||
| External IDs | OMIM: 102600 MGI: 88061 HomoloGene: 413 | |||||||||||||
| EC number | 2.4.2.7 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
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| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 353 | 11821 | ||||||||||||
| Ensembl | ENSG00000198931 | ENSMUSG00000006589 | ||||||||||||
| Uniprot | P07741 | Q564P4 | ||||||||||||
| Refseq | NM_000485 (mRNA) NP_000476 (protein) |
NM_009698 (mRNA) NP_033828 (protein) |
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| Location | Chr 16: 87.4 - 87.41 Mb | Chr 8: 125.46 - 125.46 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
Adenine phosphoribosyltransferase, also known as APRT, is a human gene.[1]
The protein encoded by this gene, 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).
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[edit] 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".
[edit] References
[edit] 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. PMID 7915931.
[edit] External links
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