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Gene Ontology Classifications
Symbol
Name
ID
Hprt
hypoxanthine guanine phosphoribosyl transferase
MGI:96217

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Hprt. (This text reflects annotations as of Thursday, July 24, 2014.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of December 7, 2006. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.[provided by RefSeq, Jun 2009]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. Boer P et al. (2001) Decelerated rate of dendrite outgrowth from dopaminergic neurons in primary cultures from brains of hypoxanthine phosphoribosyltransferase-deficient knockout mice. Neurosci Lett, 303:45-8. (PubMed:11297820)
  2. Chamberlain JS et al. (1987) Regional localization of the murine Duchenne muscular dystrophy gene on the mouse X chromosome. Somat Cell Mol Genet, 13:671-8. (PubMed:2890215)
  3. Chapman VM et al. (1983) Electrophoretic variation for X chromosome-linked hypoxanthine phosphoribosyl transferase (HPRT) in wild-derived mice. Genetics, 103:785-95. (PubMed:6852525)
  4. Chapman VM et al. (1976) Somatic cell genetic evidence for X-chromosome linkage of three enzymes in the mouse. Nature, 259:665-7. (PubMed:943046)
  5. Engle SJ et al. (1996) HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome. Hum Mol Genet, 5:1607-10. (PubMed:8894695)
  6. Francke U et al. (1979) Assignment of the gene for cytoplasmic superoxide dismutase (Sod-1) to a region of chromosome 16 and of Hprt to a region of the X chromosome in the mouse. Proc Natl Acad Sci U S A, 76:5230-3. (PubMed:291939)
  7. Francke U et al. (1977) Gene mapping in Mus musculus by interspecific cell hybridization: assignment of the genes for tripeptidase-1 to chromosome 10, dipeptidase-2 to chromosome 18, acid phosphatase-1 to chromosome 12, and adenylate kinase-1 to chromosome 2. Cytogenet Cell Genet, 19:57-84. (PubMed:198184)
  8. Francke U et al. (1980) Comparative gene mapping: order of loci on the X chromosome is different in mice and humans. Proc Natl Acad Sci U S A, 77:3595-9. (PubMed:6251472)
  9. Gu JJ et al. (2003) Targeted disruption of the inosine 5'-monophosphate dehydrogenase type I gene in mice. Mol Cell Biol, 23:6702-12. (PubMed:12944494)
  10. Hooper M et al. (1987) HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells. Nature, 326:292-5. (PubMed:3821905)
  11. Ikeda K et al. (1993) Postnatal expression of hypoxanthine guanine phosphoribosyltransferase in the mouse brain. Enzyme Protein, 47:65-72. (PubMed:8193672)
  12. Jackson WS et al. (2003) Nucleocytoplasmic transport signals affect the age at onset of abnormalities in knock-in mice expressing polyglutamine within an ectopic protein context. Hum Mol Genet, 12:1621-9. (PubMed:12812988)
  13. Jinnah HA et al. (1991) Amphetamine-induced behavioral phenotype in a hypoxanthine-guanine phosphoribosyltransferase-deficient mouse model of Lesch-Nyhan syndrome. Behav Neurosci, 105:1004-12. (PubMed:1777100)
  14. Jinnah HA et al. (1993) Brain purines in a genetic mouse model of Lesch-Nyhan disease. J Neurochem, 60:2036-45. (PubMed:8492116)
  15. Jinnah HA et al. (1992) Functional analysis of brain dopamine systems in a genetic mouse model of Lesch-Nyhan syndrome. J Pharmacol Exp Ther, 263:596-607. (PubMed:1432691)
  16. Jinnah HA et al. (1994) Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease. J Neurosci, 14:1164-75. (PubMed:7509865)
  17. Jinnah HA et al. (1999) Influence of age and strain on striatal dopamine loss in a genetic mouse model of Lesch-Nyhan disease. J Neurochem, 72:225-9. (PubMed:9886073)
  18. Kozak C et al. (1975) Gene linkage analysis in the mouse by somatic cell hybridization: assignment of adenine phosphoribosyltransferase to chromosome 8 and alpha-galactosidase to the X chromosome. Somatic Cell Genet, 1:371-82. (PubMed:1235912)
  19. Kozak CA et al. (1977) Assignment of the genes for thymidine kinase and galactokinase to Mus musculus chromosome 11 and the preferential segregation of this chromosome in Chinese hamster/mouse somatic cell hybrids. Somatic Cell Genet, 3:121-33. (PubMed:204065)
  20. Kuehn MR et al. (1987) A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice. Nature, 326:295-8. (PubMed:3029599)
  21. Melton DW et al. (1984) Structure, expression, and mutation of the hypoxanthine phosphoribosyltransferase gene. Proc Natl Acad Sci U S A, 81:2147-51. (PubMed:6326107)
  22. Moore TF et al. (1992) Failure to detect age-related reactivation at the Hprt locus Mouse Genome, 90:687-89.
  23. Mullins LJ et al. (1988) Multilocus molecular mapping of the mouse X chromosome. Genomics, 3:187-94. (PubMed:2906327)
  24. Nesbitt MN et al. (1979) Isoenzyme pattern of HPRT in murine erythrocytes: control by an autosomal locus. Biochem Genet, 17:957-64. (PubMed:540025)
  25. Pelled D et al. (1999) Abnormal purine and pyrimidine nucleotide content in primary astroglia cultures from hypoxanthine-guanine phosphoribosyltransferase-deficient transgenic mice. J Neurochem, 72:1139-45. (PubMed:10037486)
  26. Peters J et al. (1988) The localization of G6pd, glucose-6-phosphate dehydrogenase, and mdx, muscular dystrophy in the mouse X chromosome. Genet Res, 52:195-201. (PubMed:3243423)
  27. Plumb TJ et al. (1996) Hypoxanthine-guanine phosphoribosyltransferase (HPRT) expression in the central nervous system of HPRT-deficient mice following adenoviral-mediated gene transfer. Neurosci Lett, 214:159-62. (PubMed:8878108)
  28. Suzuki H et al. (2001) Protein-protein interaction panel using mouse full-length cDNAs. Genome Res, 11:1758-65. (PubMed:11591653)
  29. Wu CL et al. (1993) Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice. Nat Genet, 3:235-40. (PubMed:8485579)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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last database update
08/19/2014
MGI 5.19
The Jackson Laboratory