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

GO curators for mouse genes have assigned the following annotations to the gene product of Pnp. (This text reflects annotations as of Wednesday, January 23, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of April 29, 2008. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Pnp
  • participates in the following biological processes:
    • purine nucleoside metabolic process ^{[2, 3, 7, 9, 11, 12, 17]}
  • performs the following molecular functions:
    • purine-nucleoside phosphorylase activity ^{[2, 3, 5, 6, 7, 9, 11, 12, 15, 17, 18]}
  • is located in the following cellular components:
    • cytosol ^{[3, 7, 11, 12]}
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Pnp
  • participates in the following biological processes:
    • deoxyguanosine catabolic process ^[1]
    • deoxyinosine catabolic process ^[1]
    • dGTP metabolic process ^{[1, 14]}
    • GTP biosynthetic process ^[1]
    • guanosine catabolic process ^[1]
    • inosine catabolic process ^{[1, 16]}
    • negative regulation of apoptotic process ^[1]
    • positive regulation of alpha-beta T cell differentiation ^{[1, 14, 16]}
    • positive regulation of B cell differentiation ^[1]
    • positive regulation of DNA repair ^[1]
    • positive regulation of T cell mediated cytotoxicity ^[1]
    • positive regulation of T cell proliferation ^{[14, 16]}
    • purine nucleoside metabolic process ^{[4, 8, 10, 11, 13, 14]}
    • response to gamma radiation ^[1]
    • urate biosynthetic process ^[16]
  • performs the following molecular functions:
    • purine-nucleoside phosphorylase activity ^{[1, 4, 8, 10, 11, 13, 14, 16]}
• Based on the experimental annotations above, MGI curators have inferred, that the gene product of Pnp
  • participates in the following biological processes:
    • purine nucleoside metabolic process ^[5]

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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 Pnp:
  • participates in the following biological processes:
    • immune response
    • inosine catabolic process
    • interleukin-2 secretion
    • NAD biosynthesis via nicotinamide riboside salvage pathway
    • nicotinamide riboside catabolic process
    • nucleobase-containing compound metabolic process
    • positive regulation of alpha-beta T cell differentiation
    • positive regulation of T cell proliferation
    • purine nucleoside metabolic process
    • response to drug
    • urate biosynthetic process
  • performs the following molecular functions:
    • drug binding
    • nucleoside binding
    • phosphate ion binding
    • purine nucleobase binding
    • purine-nucleoside phosphorylase activity
  • is located in the following cellular components:
    • cytoplasm
    • extracellular region
    • intracellular
    • nucleus

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Summary text based on GO annotations supported by structural data

• Pnp encodes a protein or proteins that contain the following InterPro domains: Nucleoside phosphorylase domain, PNP/MTAP phosphorylase, Purine nucleoside phosphorylase, Purine nucleoside phosphorylase I, inosine/guanosine-specific, Purine phosphorylase, family 2, conserved site, indicating that the gene product:
  • participates in the following biological processes:
    • nucleoside metabolic process
  • performs the following molecular functions:
    • catalytic activity
    • transferase activity, transferring pentosyl groups

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Pnp indicates that it:
  • performs the following molecular functions:
    • transferase activity
    • transferase activity, transferring glycosyl groups
  • is located in the following cellular components:
    • cytoskeleton

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References

1. Arpaia E et al. (2000) Mitochondrial basis for immune deficiency. Evidence from purine nucleoside phosphorylase-deficient mice. J Exp Med, 191:2197-208. (PubMed:10859343)
2. Blackburn MR et al. (1996) Metabolic and immunologic consequences of limited adenosine deaminase expression in mice. J Biol Chem, 271:15203-10. (PubMed:8663040)
3. Bremner TA et al. (1978) Nucleoside phosphorylase 2 (Np-2) of mice. Biochem Genet, 16:1143-51. (PubMed:109081)
4. Jenuth JP et al. (1991) Absence of dGTP accumulation and compensatory loss of deoxyguanosine kinase in purine nucleoside phosphorylase deficient mice. Adv Exp Med Biol, 309B:273-6. (PubMed:1664183)
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. 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)
7. Lukey T et al. (1985) Purine nucleoside phosphorylase (Np) in the mouse: linkage relationship of Np-2 to esterase-10 (Es-10) and Np-1 on chromosome 14. Biochem Genet, 23:347-56. (PubMed:3925939)
8. Mably ER et al. (1989) Genetic deficiency of purine nucleoside phosphorylase in the mouse. Characterization of partially and severely enzyme deficient mutants. Genome, 32:1026-32. (PubMed:2516826)
9. Nelson DM et al. (1992) Isolation and expression of a murine purine nucleoside phosphorylase-encoding cDNA and sequence similarity with the human message. Gene, 113:215-21. (PubMed:1374046)
10. Snyder FF. (1991) Genetic models of purine nucleoside phosphorylase deficiency in the mouse. Adv Exp Med Biol, 309B:137-40. (PubMed:1781357)
11. Snyder FF et al. (1994) Secondary loss of deoxyguanosine kinase activity in purine nucleoside phosphorylase deficient mice. Biochim Biophys Acta, 1227:33-40. (PubMed:7918681)
12. Snyder FF et al. (1983) Genetic variability of purine nucleoside phosphorylase activity in the mouse: relationship to Np-1 and Np-2. Biochem Genet, 21:323-32. (PubMed:6407470)
13. Snyder FF et al. (1991) Rescue of a lethal purine nucleoside phosphorylase mutation in the mouse via a second locus interaction. Adv Exp Med Biol, 309B:133-6. (PubMed:1781356)
14. Snyder FF et al. (1997) Point mutations at the purine nucleoside phosphorylase locus impair thymocyte differentiation in the mouse. Proc Natl Acad Sci U S A, 94:2522-7. (PubMed:9122228)
15. 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)
16. Toro A et al. (2006) TAT-mediated intracellular delivery of purine nucleoside phosphorylase corrects its deficiency in mice. J Clin Invest, 116:2717-26. (PubMed:16964310)
17. Womack JE et al. (1977) Mapping of nucleoside phosphorylase (Np-1) and esterase 10 (Es-10) on mouse chromosome 14. Biochem Genet, 15:347-55. (PubMed:405970)
18. Yasue M et al. (1991) Chromosomal assignments of 23 biochemical loci of the rat by using rat x mouse somatic cell hybrids. Cytogenet Cell Genet, 57:142-8. (PubMed:1914521)

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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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