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Gene Ontology Classifications
Symbol
Name
ID
Aprt
adenine phosphoribosyl transferase
MGI:88061

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

GO curators for mouse genes have assigned the following annotations to the gene product of Aprt. (This text reflects annotations as of Thursday, July 24, 2014.)
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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. Engle SJ et al. (1996) Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis. Proc Natl Acad Sci U S A, 93:5307-12. (PubMed:8643571)
  2. 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)
  3. 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)
  4. Khattar NH et al. (1997) A role for certain mouse Aprt sequences in resistance to toxic adenine analogs. Somat Cell Mol Genet, 23:51-61. (PubMed:9218001)
  5. 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)
  6. Redhead NJ et al. (1996) Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis. Hum Gene Ther, 7:1491-502. (PubMed:8864750)
  7. Schafer R et al. (1980) Assignment of the gene for cytoplasmic glutamate-oxaloacetate transaminase to mouse chromosome 19 using chinese hamster x mouse somatic cell hybrids. Somatic Cell Genet, 6:709-17. (PubMed:7444718)
  8. Sikela JM et al. (1983) Cloning and expression of a mouse adenine phosphoribosyltransferase gene. Gene, 22:219-28. (PubMed:6307822)
  9. Stallings RL et al. (1981) Confirmational, provisional, and/or regional assignment of 15 enzyme loci onto Chinese hamster autosomes 1, 2, and 7. Somatic Cell Genet, 7:683-98. (PubMed:7323947)
  10. 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
08/12/2014
MGI 5.19
The Jackson Laboratory