Purine nucleoside phosphorylase

Nucleoside phosphorylase
File:PBB Protein NP image.jpg PDB rendering based on 1m73.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1m73​, 1pf7​, 1pwy​, 1rct​, 1rfg​, 1rr6​, 1rsz​, 1rt9​, 1ula​, 1ulb​, 1v2h​, 1v3q​, 1v41​, 1v45​, 1yry​, 2a0w​, 2a0x​, 2a0y​, 2oc4​, 2oc9​, 2on6​
Identifiers
Symbols	NP ; MGC117396; MGC125915; MGC125916; PNP; PRO1837; PUNP
External IDs	Template:OMIM5 HomoloGene: 227
EC number	2.4.2.1
Gene ontology Molecular function Template:GNF GO Biological process Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE NP 201695 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Purine nucleoside phosphorylase (also known as PNPase) is an enzyme (EC 2.4.2.1) involved in purine metabolism. PNP metabolizes adenosine into adenine, inosine into hypoxanthine, and guanosine into guanine, in each case creating ribose phosphate. NP encodes the enzyme purine nucleoside phosphorylase that together with adenosine deaminase (ADA) serves a key role in purine catabolism, referred to as the salvage pathway. Mutations in either enzyme result in a severe combined immunodeficiency (SCID). Confusingly, the same abbreviation (PNPase), is also used for another, otherwise unrelated, enzyme, namely Polynucleotide Phosphorylase.

Diseases linked to PNP: PNP deficient patients will have an immunodeficiency problem. Curiously, it affects only T-cells, B-cells are unaffected by the deficiency.

See also

• Purine nucleoside phosphorylase deficiency

Further reading

• Markert ML (1991). "Purine nucleoside phosphorylase deficiency". Immunodeficiency reviews. 3 (1): 45–81. PMID 1931007.
• Borgers M, Verhaegen H, De Brabander M; et al. (1978). "Purine nucleoside phosphorylase in chronic lymphocytic leukemia (CLL)". Blood. 52 (5): 886–95. PMID 100152.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Aust MR, Andrews LG, Barrett MJ; et al. (1992). "Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency". Am. J. Hum. Genet. 51 (4): 763–72. PMID 1384322.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Andrews LG, Markert ML (1992). "Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency". J. Biol. Chem. 267 (11): 7834–8. PMID 1560016.
• Jonsson JJ, Williams SR, McIvor RS (1991). "Sequence and functional characterization of the human purine nucleoside phosphorylase promoter". Nucleic Acids Res. 19 (18): 5015–20. PMID 1923769.CS1 maint: Multiple names: authors list (link)
• Ealick SE, Rule SA, Carter DC; et al. (1990). "Three-dimensional structure of human erythrocytic purine nucleoside phosphorylase at 3.2 A resolution". J. Biol. Chem. 265 (3): 1812–20. PMID 2104852.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Williams SR, Gekeler V, McIvor RS, Martin DW (1987). "A human purine nucleoside phosphorylase deficiency caused by a single base change". J. Biol. Chem. 262 (5): 2332–8. PMID 3029074.CS1 maint: Multiple names: authors list (link)
• Williams SR, Goddard JM, Martin DW (1984). "Human purine nucleoside phosphorylase cDNA sequence and genomic clone characterization". Nucleic Acids Res. 12 (14): 5779–87. PMID 6087295.CS1 maint: Multiple names: authors list (link)
• Pannicke U, Tuchschmid P, Friedrich W; et al. (1997). "Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient". Hum. Genet. 98 (6): 706–9. PMID 8931706.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Markert ML, Finkel BD, McLaughlin TM; et al. (1997). "Mutations in purine nucleoside phosphorylase deficiency". Hum. Mutat. 9 (2): 118–21. doi:10.1002/(SICI)1098-1004(1997)9:2<118::AID-HUMU3>3.0.CO;2-5. PMID 9067751.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Erion MD, Takabayashi K, Smith HB; et al. (1997). "Purine nucleoside phosphorylase. 1. Structure-function studies". Biochemistry. 36 (39): 11725–34. doi:10.1021/bi961969w. PMID 9305962.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Erion MD, Stoeckler JD, Guida WC; et al. (1997). "Purine nucleoside phosphorylase. 2. Catalytic mechanism". Biochemistry. 36 (39): 11735–48. doi:10.1021/bi961970v. PMID 9305963.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Stoeckler JD, Poirot AF, Smith RM; et al. (1997). "Purine nucleoside phosphorylase. 3. Reversal of purine base specificity by site-directed mutagenesis". Biochemistry. 36 (39): 11749–56. doi:10.1021/bi961971n. PMID 9305964.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sasaki Y, Iseki M, Yamaguchi S; et al. (1998). "Direct evidence of autosomal recessive inheritance of Arg24 to termination codon in purine nucleoside phosphorylase gene in a family with a severe combined immunodeficiency patient". Hum. Genet. 103 (1): 81–5. PMID 9737781.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sheppard TL, Ordoukhanian P, Joyce GF (2000). "A DNA enzyme with N-glycosylase activity". Proc. Natl. Acad. Sci. U.S.A. 97 (14): 7802–7. PMID 10884411.CS1 maint: Multiple names: authors list (link)
• Dalal I, Grunebaum E, Cohen A, Roifman CM (2001). "Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient". Clin. Genet. 59 (6): 430–7. PMID 11453975.CS1 maint: Multiple names: authors list (link)
• Ivings L, Pennington SR, Jenkins R; et al. (2002). "Identification of Ca2+-dependent binding partners for the neuronal calcium sensor protein neurocalcin delta: interaction with actin, clathrin and tubulin". Biochem. J. 363 (Pt 3): 599–608. PMID 11964161.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Falkenberg M, Gaspari M, Rantanen A; et al. (2002). "Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA". Nat. Genet. 31 (3): 289–94. doi:10.1038/ng909. PMID 12068295.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Stoychev G, Kierdaszuk B, Shugar D (2002). "Xanthosine and xanthine. Substrate properties with purine nucleoside phosphorylases, and relevance to other enzyme systems". Eur. J. Biochem. 269 (16): 4048–57. PMID 12180982.CS1 maint: Multiple names: authors list (link)

External links

• Human PNP at Cornell University
• E. Coli PNP at Cornell University
• Purine-Nucleoside+Phosphorylase at the US National Library of Medicine Medical Subject Headings (MeSH)