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Gene Review

PRPS1  -  phosphoribosyl pyrophosphate synthetase 1

Homo sapiens

Synonyms: ARTS, CMTX5, DFN2, DFNX1, PPRibP, ...
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Disease relevance of PRPS1

  • Rare forms of hyperuricemia and gout are due to mutations of X-linked genes (HPRT1 and PRPS1) [1].
  • PRPS1 is the first CMT gene that encodes a metabolic enzyme, shedding a new light on the understanding of peripheral nerve-specific metabolism and also suggesting the potential of PRPS1 as a target for drugs in prevention and treatment of peripheral neuropathy by antimetabolite therapy [2].

High impact information on PRPS1

  • Kinetic analysis of recombinant mutant PRS1s showed that widely dispersed point mutations in the X chromosome-linked PRPS1 gene encoding the PRS1 isoform result in alteration of the allosteric mechanisms regulating both enzyme inhibition by purine nucleotides and activation by inorganic phosphate [3].
  • Accelerated transcription of PRPS1 in X-linked overactivity of normal human phosphoribosylpyrophosphate synthetase [4].
  • We applied Southern and Northern blot analyses and slot blotting of nuclear runoffs to delineate the process underlying aberrant PRPS1 expression in fibroblasts and lymphoblasts from patients with overactivity of normal PRS [4].
  • The genetic basis of disordered PRPS1 transcription remains unresolved; normal- and patient-derived PRPS1s share nucleotide sequence identity at least 850 base pairs 5' to the consensus transcription initiation site [4].
  • Normal and patient PRPS1 transcribed but untranslated DNA sequences were also identical [5].

Biological context of PRPS1

  • Cloned cDNAs representing the entire, homologous (80%) translated sequences of human phosphoribosylpyrophosphate synthetase (PRS) 1 and PRS 2 cDNAs were utilized as probes to localize the corresponding human PRPS1 and PRPS2 genes, previously reported to be X chromosome linked [6].
  • A PRPS1-related gene or pseudogene (PRPS1L2) was also identified using in situ chromosomal hybridization at 9q33-q34 [6].
  • The 23-, 14.5-, and 6.7-kb DNA segments were detected only if the hybrids contained human chromosome X or translocation chromosome 7p+ (7qter greater than 7p22::Xq21 greater than Xqter), indicating the location of these segments to Xq21-qter (PRPS1) [7].
  • Promoter regions of the human X-linked housekeeping genes PRPS1 and PRPS2 encoding phosphoribosylpyrophosphate synthetase subunit I and II isoforms [8].

Anatomical context of PRPS1


Associations of PRPS1 with chemical compounds


Other interactions of PRPS1


Analytical, diagnostic and therapeutic context of PRPS1


  1. X-linkage does not account for the absence of father-son similarity in plasma uric acid concentrations. Reed, D.R., Price, R.A. Am. J. Med. Genet. (2000) [Pubmed]
  2. Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). Kim, H.J., Sohn, K.M., Shy, M.E., Krajewski, K.M., Hwang, M., Park, J.H., Jang, S.Y., Won, H.H., Choi, B.O., Hong, S.H., Kim, B.J., Suh, Y.L., Ki, C.S., Lee, S.Y., Kim, S.H., Kim, J.W. Am. J. Hum. Genet. (2007) [Pubmed]
  3. The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity. Becker, M.A., Smith, P.R., Taylor, W., Mustafi, R., Switzer, R.L. J. Clin. Invest. (1995) [Pubmed]
  4. Accelerated transcription of PRPS1 in X-linked overactivity of normal human phosphoribosylpyrophosphate synthetase. Ahmed, M., Taylor, W., Smith, P.R., Becker, M.A. J. Biol. Chem. (1999) [Pubmed]
  5. Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase. Becker, M.A., Taylor, W., Smith, P.R., Ahmed, M. J. Biol. Chem. (1996) [Pubmed]
  6. Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genes. Becker, M.A., Heidler, S.A., Bell, G.I., Seino, S., Le Beau, M.M., Westbrook, C.A., Neuman, W., Shapiro, L.J., Mohandas, T.K., Roessler, B.J. Genomics (1990) [Pubmed]
  7. Localization of human phosphoribosylpyrophosphate synthetase subunit I and II genes (PRPS1 and PRPS2) to different regions of the X chromosome and assignment of two PRPS1-related genes to autosomes. Taira, M., Kudoh, J., Minoshima, S., Iizasa, T., Shimada, H., Shimizu, Y., Tatibana, M., Shimizu, N. Somat. Cell Mol. Genet. (1989) [Pubmed]
  8. Promoter regions of the human X-linked housekeeping genes PRPS1 and PRPS2 encoding phosphoribosylpyrophosphate synthetase subunit I and II isoforms. Ishizuka, T., Iizasa, T., Taira, M., Ishijima, S., Sonoda, T., Shimada, H., Nagatake, N., Tatibana, M. Biochim. Biophys. Acta (1992) [Pubmed]
  9. Tissue-differential expression of two distinct genes for phosphoribosyl pyrophosphate synthetase and existence of the testis-specific transcript. Taira, M., Iizasa, T., Yamada, K., Shimada, H., Tatibana, M. Biochim. Biophys. Acta (1989) [Pubmed]
  10. Effect of treatment on erythrocyte phosphoribosyl pyrophosphate synthetase and glutathione reductase activity in patients with primary gout. Braven, J., Hardwell, T.R., Hickling, P., Whittaker, M. Ann. Rheum. Dis. (1986) [Pubmed]
  11. Purines as 'hyper-repressors' of glucose transport. A role for phosphoribosyl diphosphate. Gay, R.J., Amos, H. Biochem. J. (1983) [Pubmed]
  12. Overexpression, purification, and characterization of recombinant human 5-phosphoribosyl-1-pyrophosphate synthetase isozymes I and II. Nosal, J.M., Switzer, R.L., Becker, M.A. J. Biol. Chem. (1993) [Pubmed]
  13. Enzymes of purine and pyrimidine metabolism from the human malaria parasite, Plasmodium falciparum. Reyes, P., Rathod, P.K., Sanchez, D.J., Mrema, J.E., Rieckmann, K.H., Heidrich, H.G. Mol. Biochem. Parasitol. (1982) [Pubmed]
  14. Expression, purification, crystallization and preliminary X-ray diffraction analysis of human phosphoribosyl pyrophosphate synthetase 1 (PRS1). Tang, W., Li, X., Zhu, Z., Tong, S., Li, X., Zhang, X., Teng, M., Niu, L. Acta Crystallograph. Sect. F Struct. Biol. Cryst. Commun. (2006) [Pubmed]
  15. Disorders associated with purine and pyrimidine metabolism. Edwards, N.L., Fox, I.H. Special topics in endocrinology and metabolism. (1984) [Pubmed]
  16. Molecular cloning and sequencing of human cDNA for phosphoribosyl pyrophosphate synthetase subunit II. Iizasa, T., Taira, M., Shimada, H., Ishijima, S., Tatibana, M. FEBS Lett. (1989) [Pubmed]
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