- 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 = ]PBB_Summary
section_title =
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 thenucleotide 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 ofchemotherapy drugs such asmethotrexate oraminopterin .All salvage pathway enzymes require a high energy
phosphate donor such as ATP orPRPP .*
Thymidine can be phosphorylated bythymidine kinase (TK).
*Uridine can be phosphorylated byuridine kinase (UK).
*Cytidine can be phosphorylated bycytidine kinase (CK).
*Deoxycytidine can be phosphorylated bydeoxycytidine kinase (DOK).Adenosine uses the enzymeadenosine kinase , which is a very important enzyme in the cell. Attempts are being made to develop an inhibitor for the enzyme for use incancer 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=PBB_Controls
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