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 Wednesday, January 23, 2013.)

---

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

• Researchers have inferred from direct assay, that the gene product of Aprt
  • participates in the following biological processes:
    • metabolic process ^{[3, 5, 7, 8, 9]}
  • performs the following molecular functions:
    • adenine binding ^[4]
    • adenine phosphoribosyltransferase activity ^{[3, 5, 7, 8, 9]}
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Aprt
  • participates in the following biological processes:
    • adenine metabolic process ^{[1, 2]}
    • adenine salvage ^[6]
    • purine ribonucleoside salvage ^[10]
  • performs the following molecular functions:
    • adenine phosphoribosyltransferase activity ^{[1, 2, 10]}
• Researchers have inferred, based on genetic interactions, that the gene product of Aprt
  • participates in the following biological processes:
    • adenine metabolic process based on interactions with Hprt ^[2]
    • grooming behavior based on interactions with Hprt ^[10]
    • purine ribonucleoside salvage based on interactions with Hprt ^[10]
  • performs the following molecular functions:
    • adenine phosphoribosyltransferase activity based on interactions with Hprt ^[10]
• Based on the experimental annotations above, MGI curators have inferred, that the gene product of Aprt
  • participates in the following biological processes:
    • adenine metabolic process ^[5]

---

Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Aprt:
  • participates in the following biological processes:
    • lactation
  • performs the following molecular functions:
    • AMP binding
  • is located in the following cellular components:
    • cytoplasm
    • nucleus

---

Summary text based on GO annotations supported by structural data

• Aprt encodes a protein or proteins that contain the following InterPro domains: Adenine phosphoribosyl transferase, Phosphoribosyltransferase domain, indicating that the gene product:
  • participates in the following biological processes:
    • nucleoside metabolic process

---

Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Aprt indicates that it:
  • participates in the following biological processes:
    • metabolic process
  • performs the following molecular functions:
    • transferase activity
    • transferase activity, transferring glycosyl groups

---

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)

---

---

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

---