The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

HPRT1  -  hypoxanthine phosphoribosyltransferase 1

Homo sapiens

Synonyms: HGPRT, HGPRTase, HPRT, Hypoxanthine-guanine phosphoribosyltransferase
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of HPRT1


Psychiatry related information on HPRT1


High impact information on HPRT1

  • Mutant mice express a form of the HPRT protein that contains a long polyglutamine repeat [10].
  • A rationalization of the effects on stability and activity of naturally occurring single amino acid mutations of HGPRTase is presented, including a discussion of several mutations at the active site that lead to Lesch-Nyhan syndrome [11].
  • The location of active site residues also provides evidence for a possible mechanism for general base-assisted HGPRTase catalysis [11].
  • To determine whether Langerhans' histiocytosis is a polyclonal reactive disease or a clonal disorder, we used X-linked polymorphic DNA probes (HUMARA, PGK, M27 beta[DXS255], and HPRT) to assess clonality in lesional tissues and control leukocytes from 10 female patients with various forms of the disease [12].
  • Although HPRT-deficient mice have been generated using the embryonic stem cell system, no spontaneous behavioural abnormalities had been reported [5].

Chemical compound and disease context of HPRT1


Biological context of HPRT1


Anatomical context of HPRT1

  • However, the mRNA level of GAPDH relative to HPRT1 in rat hepatocytes was markedly increased by Rif [21].
  • In addition, PMCA4 expression shows little variation across eight drug-treated cell lines and was found to be superior to GAPDH and HPRT1, commonly used reference genes [22].
  • The HPRT gene on the X chromosome is transcriptionally active in male human fibroblasts [23].
  • We report here two in vivo somatic HPRT1 mutations in human kidney tubular epithelial cells that disrupt HPRT1 intron 1 splicing and lead to the inclusion of intron 1 sequence [24].
  • The mutation G508A in the HPRT1 gene has been repeatedly found among peripheral T lymphocytes by clonal expansion under selective conditions [25].

Associations of HPRT1 with chemical compounds

  • By using selection media, we show that HPRT1 activity is abolished in the mutant cells, and the HPRT1-cells show a higher rate of uric acid accumulation than the wild-type cells [1].
  • ACTB and HPRT1 are suitable internal controls for evaluating mRNA expression levels in primary cultures of human and rat hepatocytes after Rif, Dex, or Ome exposure [21].
  • We identified the identical large genomic deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene in two Japanese patients with Lesch-Nyhan (LN) syndrome [26].
  • DNA sequences of the X-chromosome-linked hypoxanthine phosphoribosyltransferase (HPRT) and glucose 6-phosphate dehydrogenase (G6PD) genes have revealed the presence of clusters of CpG dinucleotides, raising the possibility that such clusters are involved in the control of expression of these genes, which are expressed in all tissues [27].
  • Aberrant hypoxanthine phosphoribosyltransferase (HUGO-approved gene symbol HPRT1; MIM# 308000) mRNA splicing, promoted by splice site mutation or loss, is a common mechanism for loss of the purine salvage enzyme HPRT1 from human cells [24].

Regulatory relationships of HPRT1


Other interactions of HPRT1

  • Therefore, we examined the effect of exogenous wild-type MSH6 and POLD1 expression on the spontaneous mutation rate at the HPRT locus in DLD-1 cells [3].
  • POLB exhibits a high frequency of splice variants (40-60%), whereas the frequency of HPRT splice variants is considerably lower (approximately 1%) [33].
  • Unknown sequence compared through BLAST analysis of human genome (NCBI; showed that at least 0.5 to 0.6-Mb telomeric to HPRT1 on chromosome Xq where located near LOC340581 [19].
  • The use of 3' rapid amplification of cDNA ends polymerase chain reaction (3'RACE-PCR) for HRT-25 revealed part of intron 3 and an unknown sequence which have not identified the HPRT1 gene starting at the 3' end of exon 3 [19].
  • These results strongly suggest that there is coordinate reactivation of GLA and HPRT [34].

Analytical, diagnostic and therapeutic context of HPRT1

  • This origin was mapped using a quantitative PCR assay to evaluate the relative abundance of HPRT markers in short nascent DNA strands isolated from asynchronous cultures of male fibroblasts [23].
  • Reliable transcript quantification by real-time reverse transcriptase-polymerase chain reaction in primary neuroblastoma using normalization to averaged expression levels of the control genes HPRT1 and SDHA [4].
  • Comparison with transcript levels determined by oligonucleotide-array expression analysis revealed that target gene mRNA quantification became most consistent after normalization to averaged expression levels of HPRT1 and SDHA [4].
  • Isoelectric focusing showed that the HPRT expressed in these clones is human [35].
  • Southern blot analysis of genomic DNA isolated from lymphoblasts derived from G.S. and D.B. revealed that both have this additional Hpa I site, indicating that the similarly altered protein sequence is due to the identical transition in the HPRT gene [36].


  1. Modeling for Lesch-Nyhan disease by gene targeting in human embryonic stem cells. Urbach, A., Schuldiner, M., Benvenisty, N. Stem Cells (2004) [Pubmed]
  2. 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]
  3. Effect of exogenous MSH6 and POLD1 expression on the mutation rate of the HPRT locus in a human colon cancer cell line with mutator phenotype, DLD-1. Yabuta, T., Shinmura, K., Yamane, A., Yamaguchi, S., Takenoshita, S., Yokota, J. Int. J. Oncol. (2004) [Pubmed]
  4. Reliable transcript quantification by real-time reverse transcriptase-polymerase chain reaction in primary neuroblastoma using normalization to averaged expression levels of the control genes HPRT1 and SDHA. Fischer, M., Skowron, M., Berthold, F. The Journal of molecular diagnostics : JMD. (2005) [Pubmed]
  5. Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice. Wu, C.L., Melton, D.W. Nat. Genet. (1993) [Pubmed]
  6. The spectrum of mutations causing HPRT deficiency: an update. Jinnah, H.A., Harris, J.C., Nyhan, W.L., O'Neill, J.P. Nucleosides Nucleotides Nucleic Acids (2004) [Pubmed]
  7. HGPRT in the Gilles de la Tourette syndrome. Johnson, G.G., Pepple, J.M., Singer, H.S., Littlefield, J.W. N. Engl. J. Med. (1977) [Pubmed]
  8. HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome. Engle, S.J., Womer, D.E., Davies, P.M., Boivin, G., Sahota, A., Simmonds, H.A., Stambrook, P.J., Tischfield, J.A. Hum. Mol. Genet. (1996) [Pubmed]
  9. V(D)J Recombinase-Mediated Processing of Coding Junctions at Cryptic Recombination Signal Sequences in Peripheral T Cells during Human Development. Murray, J.M., O'neill, J.P., Messier, T., Rivers, J., Walker, V.E., McGonagle, B., Trombley, L., Cowell, L.G., Kelsoe, G., McBlane, F., Finette, B.A. J. Immunol. (2006) [Pubmed]
  10. Ectopically expressed CAG repeats cause intranuclear inclusions and a progressive late onset neurological phenotype in the mouse. Ordway, J.M., Tallaksen-Greene, S., Gutekunst, C.A., Bernstein, E.M., Cearley, J.A., Wiener, H.W., Dure, L.S., Lindsey, R., Hersch, S.M., Jope, R.S., Albin, R.L., Detloff, P.J. Cell (1997) [Pubmed]
  11. The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP. Eads, J.C., Scapin, G., Xu, Y., Grubmeyer, C., Sacchettini, J.C. Cell (1994) [Pubmed]
  12. Langerhans'-cell histiocytosis (histiocytosis X)--a clonal proliferative disease. Willman, C.L., Busque, L., Griffith, B.B., Favara, B.E., McClain, K.L., Duncan, M.H., Gilliland, D.G. N. Engl. J. Med. (1994) [Pubmed]
  13. Gene duplication and inactivation in the HPRT gene family. Keebaugh, A.C., Sullivan, R.T., Thomas, J.W. Genomics (2007) [Pubmed]
  14. Nucleotide sequence and organization of the mouse adenine phosphoribosyltransferase gene: presence of a coding region common to animal and bacterial phosphoribosyltransferases that has a variable intron/exon arrangement. Dush, M.K., Sikela, J.M., Khan, S.A., Tischfield, J.A., Stambrook, P.J. Proc. Natl. Acad. Sci. U.S.A. (1985) [Pubmed]
  15. Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor). Fujimori, S., Hidaka, Y., Davidson, B.L., Palella, T.D., Kelley, W.N. Hum. Genet. (1988) [Pubmed]
  16. Hypoxanthine-guanine phosphoribosyltransferase mutant glioma cells: diminished monamine oxidase activity. Skaper, S.D., Seegmiller, J.E. Science (1976) [Pubmed]
  17. Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage. Gibbs, R.A., Caskey, C.T. Science (1987) [Pubmed]
  18. Pseudogenes of the human HPRT1 gene. Nicklas, J.A. Environ. Mol. Mutagen. (2006) [Pubmed]
  19. Disruption of the hypoxanthine-guanine phosphoribosyl-transferase gene caused by a translocation in a patient with Lesch-Nyhan syndrome. Mizunuma, M., Yamada, Y., Yamada, K., Sonta, S., Wakamatsu, N., Kaneko, K., Ogasawara, N., Fujimori, S. Nucleosides Nucleotides Nucleic Acids (2004) [Pubmed]
  20. Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus. Duan, J., Nilsson, L., Lambert, B. Hum. Mutat. (2004) [Pubmed]
  21. Effects of prototypical drug-metabolizing enzyme inducers on mRNA expression of housekeeping genes in primary cultures of human and rat hepatocytes. Nishimura, M., Koeda, A., Suzuki, E., Shimizu, T., Kawano, Y., Nakayama, M., Satoh, T., Narimatsu, S., Naito, S. Biochem. Biophys. Res. Commun. (2006) [Pubmed]
  22. Plasma membrane calcium ATPase (PMCA4): a housekeeper for RT-PCR relative quantification of polytopic membrane proteins. Calcagno, A.M., Chewning, K.J., Wu, C.P., Ambudkar, S.V. BMC Mol. Biol. (2006) [Pubmed]
  23. Same origins of DNA replication function on the active and inactive human X chromosomes. Cohen, S.M., Brylawski, B.P., Cordeiro-Stone, M., Kaufman, D.G. J. Cell. Biochem. (2003) [Pubmed]
  24. Different somatic and germline HPRT1 mutations promote use of a common, cryptic intron 1 splice site. Mutations in brief no. 246. Online. Colgin, L.M., Hackmann, A.F., Monnat, R.J. Hum. Mutat. (1999) [Pubmed]
  25. Distributions of five common point mutants in the human tracheal-bronchial epithelium. Sudo, H., Li-Sucholeiki, X.C., Marcelino, L.A., Gruhl, A.N., Zarbl, H., Willey, J.C., Thilly, W.G. Mutat. Res. (2006) [Pubmed]
  26. A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome. Mizunuma, M., Fujimori, S., Ogino, H., Ueno, T., Inoue, H., Kamatani, N. Hum. Mutat. (2001) [Pubmed]
  27. Clusters of CpG dinucleotides implicated by nuclease hypersensitivity as control elements of housekeeping genes. Wolf, S.F., Migeon, B.R. Nature (1985) [Pubmed]
  28. Stable expression of human CYP1A2 and N-acetyltransferases in Chinese hamster CHL cells: mutagenic activation of 2-amino-3-methylimidazo[4,5-f]quinoline and 2-amino-3,8-dimethylimidazo[4,5-f]quinoxaline. Yanagawa, Y., Sawada, M., Deguchi, T., Gonzalez, F.J., Kamataki, T. Cancer Res. (1994) [Pubmed]
  29. Pharmacokinetic considerations in the treatment of inflammatory bowel disease. Schwab, M., Klotz, U. Clinical pharmacokinetics. (2001) [Pubmed]
  30. The role of DNA polymerase eta in translesion synthesis past platinum-DNA adducts in human fibroblasts. Bassett, E., King, N.M., Bryant, M.F., Hector, S., Pendyala, L., Chaney, S.G., Cordeiro-Stone, M. Cancer Res. (2004) [Pubmed]
  31. Mutant frequency at the HPRT locus in peripheral blood T-lymphocytes of atomic bomb survivors. Hirai, Y., Kusunoki, Y., Kyoizumi, S., Awa, A.A., Pawel, D.J., Nakamura, N., Akiyama, M. Mutat. Res. (1995) [Pubmed]
  32. Role of differentiation induction in action of purine antimetabolites. Weber, G., Hata, Y., Prajda, N. Pharmacy world & science : PWS. (1994) [Pubmed]
  33. A survey of splice variants of the human hypoxanthine phosphoribosyl transferase and DNA polymerase beta genes: products of alternative or aberrant splicing? Skandalis, A., Uribe, E. Nucleic Acids Res. (2004) [Pubmed]
  34. Frequency of reactivation and variability in expression of X-linked enzyme loci. Mohandas, T., Sparkes, R.S., Bishop, D.F., Desnick, R.J., Shapiro, L.J. Am. J. Hum. Genet. (1984) [Pubmed]
  35. Reactivation of an inactive human X chromosome: evidence for X inactivation by DNA methylation. Mohandas, T., Sparkes, R.S., Shapiro, L.J. Science (1981) [Pubmed]
  36. Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects. Davidson, B.L., Chin, S.J., Wilson, J.M., Kelley, W.N., Palella, T.D. J. Clin. Invest. (1988) [Pubmed]
WikiGenes - Universities