Nucleoside phosphorylase

Nucleoside phosphorylase, also known as NP, is a human gene.cite web | title = Entrez Gene: NP nucleoside phosphorylase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4860| accessdate = ]

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summary_text = 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).cite web | title = Entrez Gene: NP nucleoside phosphorylase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4860| accessdate = ]

Nucleoside phosphorylase is an enzyme which, as its name implies, phosphorylates a nucleoside to produce a nucleotide monophosphate. It is one enzyme of the nucleotide salvage pathways. These pathways allow the cell to produce nucleotide monophosphates when the "de novo" synthesis pathway has been interrupted or is non-existent (as is the case in the brain). Often the de novo pathway is interrupted as a result of chemotherapy drugs such as methotrexate or aminopterin.

All salvage pathway enzymes require a high energy phosphate donor such as ATP or PRPP.

* Thymidine can be phosphorylated by thymidine kinase (TK).
* Uridine can be phosphorylated by uridine kinase (UK).
* Cytidine can be phosphorylated by cytidine kinase (CK).
* Deoxycytidine can be phosphorylated by deoxycytidine kinase (DOK).

Adenosine uses the enzyme adenosine kinase, which is a very important enzyme in the cell. Attempts are being made to develop an inhibitor for the enzyme for use in cancer chemotherapy.

ee also

* Purine nucleoside phosphorylase

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Markert ML |title=Purine nucleoside phosphorylase deficiency. |journal=Immunodeficiency reviews |volume=3 |issue= 1 |pages= 45–81 |year= 1991 |pmid= 1931007 |doi=
*cite journal | author=Borgers M, Verhaegen H, De Brabander M, "et al." |title=Purine nucleoside phosphorylase in chronic lymphocytic leukemia (CLL). |journal=Blood |volume=52 |issue= 5 |pages= 886–95 |year= 1978 |pmid= 100152 |doi=
*cite journal | author=Aust MR, Andrews LG, Barrett MJ, "et al." |title=Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. |journal=Am. J. Hum. Genet. |volume=51 |issue= 4 |pages= 763–72 |year= 1992 |pmid= 1384322 |doi=
*cite journal | author=Andrews LG, Markert ML |title=Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency. |journal=J. Biol. Chem. |volume=267 |issue= 11 |pages= 7834–8 |year= 1992 |pmid= 1560016 |doi=
*cite journal | author=Jonsson JJ, Williams SR, McIvor RS |title=Sequence and functional characterization of the human purine nucleoside phosphorylase promoter. |journal=Nucleic Acids Res. |volume=19 |issue= 18 |pages= 5015–20 |year= 1991 |pmid= 1923769 |doi=
*cite journal | author=Ealick SE, Rule SA, Carter DC, "et al." |title=Three-dimensional structure of human erythrocytic purine nucleoside phosphorylase at 3.2 A resolution. |journal=J. Biol. Chem. |volume=265 |issue= 3 |pages= 1812–20 |year= 1990 |pmid= 2104852 |doi=
*cite journal | author=Williams SR, Gekeler V, McIvor RS, Martin DW |title=A human purine nucleoside phosphorylase deficiency caused by a single base change. |journal=J. Biol. Chem. |volume=262 |issue= 5 |pages= 2332–8 |year= 1987 |pmid= 3029074 |doi=
*cite journal | author=Williams SR, Goddard JM, Martin DW |title=Human purine nucleoside phosphorylase cDNA sequence and genomic clone characterization. |journal=Nucleic Acids Res. |volume=12 |issue= 14 |pages= 5779–87 |year= 1984 |pmid= 6087295 |doi=
*cite journal | author=Pannicke U, Tuchschmid P, Friedrich W, "et al." |title=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. |journal=Hum. Genet. |volume=98 |issue= 6 |pages= 706–9 |year= 1997 |pmid= 8931706 |doi=
*cite journal | author=Markert ML, Finkel BD, McLaughlin TM, "et al." |title=Mutations in purine nucleoside phosphorylase deficiency. |journal=Hum. Mutat. |volume=9 |issue= 2 |pages= 118–21 |year= 1997 |pmid= 9067751 |doi= 10.1002/(SICI)1098-1004(1997)9:2<118::AID-HUMU3>3.0.CO;2-5 |doilabel=10.1002/(SICI)1098-1004(1997)9:2118::AID-HUMU33.0.CO;2-5
*cite journal | author=Erion MD, Takabayashi K, Smith HB, "et al." |title=Purine nucleoside phosphorylase. 1. Structure-function studies. |journal=Biochemistry |volume=36 |issue= 39 |pages= 11725–34 |year= 1997 |pmid= 9305962 |doi= 10.1021/bi961969w
*cite journal | author=Erion MD, Stoeckler JD, Guida WC, "et al." |title=Purine nucleoside phosphorylase. 2. Catalytic mechanism. |journal=Biochemistry |volume=36 |issue= 39 |pages= 11735–48 |year= 1997 |pmid= 9305963 |doi= 10.1021/bi961970v
*cite journal | author=Stoeckler JD, Poirot AF, Smith RM, "et al." |title=Purine nucleoside phosphorylase. 3. Reversal of purine base specificity by site-directed mutagenesis. |journal=Biochemistry |volume=36 |issue= 39 |pages= 11749–56 |year= 1997 |pmid= 9305964 |doi= 10.1021/bi961971n
*cite journal | author=Sasaki Y, Iseki M, Yamaguchi S, "et al." |title=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. |journal=Hum. Genet. |volume=103 |issue= 1 |pages= 81–5 |year= 1998 |pmid= 9737781 |doi=
*cite journal | author=Sheppard TL, Ordoukhanian P, Joyce GF |title=A DNA enzyme with N-glycosylase activity. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 14 |pages= 7802–7 |year= 2000 |pmid= 10884411 |doi=
*cite journal | author=Dalal I, Grunebaum E, Cohen A, Roifman CM |title=Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient. |journal=Clin. Genet. |volume=59 |issue= 6 |pages= 430–7 |year= 2001 |pmid= 11453975 |doi=
*cite journal | author=Ivings L, Pennington SR, Jenkins R, "et al." |title=Identification of Ca2+-dependent binding partners for the neuronal calcium sensor protein neurocalcin delta: interaction with actin, clathrin and tubulin. |journal=Biochem. J. |volume=363 |issue= Pt 3 |pages= 599–608 |year= 2002 |pmid= 11964161 |doi=
*cite journal | author=Falkenberg M, Gaspari M, Rantanen A, "et al." |title=Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA. |journal=Nat. Genet. |volume=31 |issue= 3 |pages= 289–94 |year= 2002 |pmid= 12068295 |doi= 10.1038/ng909
*cite journal | author=Stoychev G, Kierdaszuk B, Shugar D |title=Xanthosine and xanthine. Substrate properties with purine nucleoside phosphorylases, and relevance to other enzyme systems. |journal=Eur. J. Biochem. |volume=269 |issue= 16 |pages= 4048–57 |year= 2002 |pmid= 12180982 |doi=

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