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<p>建立内容为“{{protein | Name = 嘌呤核苷磷酸化酶（PNPase） | image = PNP(human)-structure.png | caption = | width = | HGNCid = 7892 | Symbol = NP | AltSymbols = |…”的新页面</p> <p><b>新页面</b></p><div>{{protein<br /> | Name = 嘌呤核苷磷酸化酶（PNPase）<br /> | image = PNP(human)-structure.png<br /> | caption = <br /> | width = <br /> | HGNCid = 7892<br /> | Symbol = NP<br /> | AltSymbols = <br /> | EntrezGene = 4860<br /> | OMIM = 164050<br /> | RefSeq = <br /> | UniProt = P00491<br /> | PDB = 1RT9<br /> | ECnumber = 2.4.2.1<br /> | Chromosome = 14<br /> | Arm = q<br /> | Band = 13.1<br /> | LocusSupplementaryData =<br /> }}<br /> {{PBB|geneid=4860}}<br /> '''嘌呤核苷磷酸化酶'''{{lang-en|Purine nucleoside phosphorylase}}，简写为'''PNPase''')是参与[[嘌呤代谢]]的一种酶。嘌呤核苷磷酸化酶可以[[代谢]][[腺苷]]到[[腺嘌呤]]，[[肌苷]]到[[次黄嘌呤]]，[[鸟苷]]到[[鸟嘌呤]]，并在这些反应中产生[[核糖-5-磷酸]]。<br /> <br /> 需要注意的是，''PNPase''这一简称还被用于另一个不相关的酶，[[多核苷酸磷酸化酶]]（Polynucleotide Phosphorylase）。<br /> <br /> == 相关疾病 ==<br /> <br /> 嘌呤核苷磷酸化酶缺陷型病患会有[[免疫缺陷]]，而只有[[免疫系统]]中的[[T细胞]]和[[B细胞]]不受此缺陷影响。<br /> <br /> == 参见 ==<br /> * [[磷酸化酶]]<br /> <br /> ==深入阅读==<br /> <br /> {{Refbegin| 2}}<br /> *{{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= }}<br /> *{{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= }}<br /> *{{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= | pmc=1682776 }}<br /> *{{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= }}<br /> *{{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=10.1093/nar/19.18.5015 | pmc=328804 }}<br /> *{{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= }}<br /> *{{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= }}<br /> *{{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=10.1093/nar/12.14.5779 | pmc=320030 }}<br /> *{{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=10.1007/s004390050290 }}<br /> *{{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&lt;118::AID-HUMU3&gt;3.0.CO;2-5 }}<br /> *{{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 }}<br /> *{{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 }}<br /> *{{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 }}<br /> *{{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=10.1007/s004390050787 }}<br /> *{{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=10.1073/pnas.97.14.7802 | pmc=16625 }}<br /> *{{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=10.1034/j.1399-0004.2001.590608.x }}<br /> *{{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=10.1042/0264-6021:3630599 | pmc=1222513 }}<br /> *{{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 }}<br /> *{{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=10.1046/j.1432-1033.2002.03097.x }}<br /> {{Refend}}<br /> <br /> == 外部链接 ==<br /> * {{en}}[http://arginine.chem.cornell.edu/Structures/HumanPNP.html 人源PNP结构]<br /> * {{en}}[http://arginine.chem.cornell.edu/Structures/ECPNP.html 细菌PNP结构]<br /> * {{en}}{{MeshName|Purine-Nucleoside+Phosphorylase}}<br /> {{Glycosyltransferases}}<br /> {{Nucleotide metabolism}}<br /> ==参考来源==<br /> *[http://zh.wikipedia.org/wiki/%E5%98%8C%E5%91%A4%E6%A0%B8%E8%8B%B7%E7%A3%B7%E9%85%B8%E5%8C%96%E9%85%B6 维基百科-嘌呤核苷磷酸化酶]</div>

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