嘌呤核苷磷酸化酶

嘌呤核苷磷酸化酶英語：Purine nucleoside phosphorylase，簡寫為PNPase)是參與嘌呤代謝的一種酶。嘌呤核苷磷酸化酶可以代謝腺苷到腺嘌呤，肌苷到次黃嘌呤，鳥苷到鳥嘌呤，並在這些反應中產生核糖-1-磷酸。

嘌呤核苷磷酸化酶（PNPase）
識別
符號	NP
Entrez	4860
HUGO	7892
OMIM	164050
PDB	1RT9
UniProt	P00491
其他資料
EC編號	2.4.2.1
基因座	14 q13.1

嘌呤核苷磷酸化酶
PDB rendering based on 1m73.
有效結構 PDB 直系同源檢索：PDBe, RCSB PDB查詢代碼列表 1M73, 1PF7, 1PWY, 1RCT, 1RFG, 1RR6, 1RSZ, 1RT9, 1ULA, 1ULB, 1V2H, 1V3Q, 1V41, 1V45, 1YRY, 2A0W, 2A0X, 2A0Y, 2OC4, 2OC9, 2ON6, 2Q7O, 3BGS, 3D1V, 3GB9, 3GGS, 3K8O, 3K8Q
標識
代號	PNP; FLJ94043; FLJ97288; FLJ97312; MGC117396; MGC125915; MGC125916; NP; PRO1837; PUNP
擴展標識	遺傳學：164050 鼠基因：97365 同源基因：227 GeneCards: PNP Gene
EC編號	2.4.2.1
基因本體論描述 分子功能 · nucleoside binding · purine base binding · purine-nucleoside phosphorylase activity · purine-nucleoside phosphorylase activity · drug binding · phosphate binding 細胞成分 · intracellular · cytoplasm · cytosol · cytoskeleton 生物過程 · nucleobase, nucleoside, nucleotide and nucleic acid metabolic process · purine base metabolic process · inosine catabolic process · purine nucleotide catabolic process · nicotinamide riboside catabolic process · immune response · nucleoside metabolic process · NAD biosynthesis via nicotinamide riboside salvage pathway · urate biosynthetic process · positive regulation of T cell proliferation · response to drug · response to drug · purine-containing compound salvage · positive regulation of alpha-beta T cell differentiation · nucleobase, nucleoside and nucleotide metabolic process · interleukin-2 secretion Sources: Amigo / QuickGO
RNA表達模式
更多表達數據
直系同源體
物種	人類	小鼠
Entrez	4860	18950
Ensembl	ENSG00000198805	ENSMUSG00000021871
UniProt	P00491	P23492
mRNA序列	NM_000270.3	NM_013632.4
蛋白序列	NP_000261.2	NP_038660.1
基因位置	Chr 14: 20.94 – 20.95 Mb	Chr 14: 51.56 – 51.57 Mb
PubMed查詢	[1]	[2]

需要注意的是，PNPase這一簡稱還被用於另一個不相關的酶，多核苷酸磷酸化酶（Polynucleotide Phosphorylase）。

相關疾病

嘌呤核苷磷酸化酶缺陷型病患會有免疫缺陷，而只有免疫系統中的T細胞和B細胞不受此缺陷影響。

參見

• 磷酸化酶

深入閱讀

• Markert ML. Purine nucleoside phosphorylase deficiency.. Immunodeficiency reviews. 1991, 3 (1): 45–81. PMID 1931007. 
• Borgers M, Verhaegen H, De Brabander M; et al. Purine nucleoside phosphorylase in chronic lymphocytic leukemia (CLL).. Blood. 1978, 52 (5): 886–95. PMID 100152.  引文格式1維護：顯式使用等標籤 (link)
• Aust MR, Andrews LG, Barrett MJ; et al. Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency.. Am. J. Hum. Genet. 1992, 51 (4): 763–72. PMC 1682776 . PMID 1384322.  引文格式1維護：顯式使用等標籤 (link)
• Andrews LG, Markert ML. Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency.. J. Biol. Chem. 1992, 267 (11): 7834–8. PMID 1560016. 
• Jonsson JJ, Williams SR, McIvor RS. Sequence and functional characterization of the human purine nucleoside phosphorylase promoter.. Nucleic Acids Res. 1991, 19 (18): 5015–20. PMC 328804 . PMID 1923769. doi:10.1093/nar/19.18.5015. 
• Ealick SE, Rule SA, Carter DC; et al. Three-dimensional structure of human erythrocytic purine nucleoside phosphorylase at 3.2 A resolution.. J. Biol. Chem. 1990, 265 (3): 1812–20. PMID 2104852.  引文格式1維護：顯式使用等標籤 (link)
• Williams SR, Gekeler V, McIvor RS, Martin DW. A human purine nucleoside phosphorylase deficiency caused by a single base change.. J. Biol. Chem. 1987, 262 (5): 2332–8. PMID 3029074. 
• Williams SR, Goddard JM, Martin DW. Human purine nucleoside phosphorylase cDNA sequence and genomic clone characterization.. Nucleic Acids Res. 1984, 12 (14): 5779–87. PMC 320030 . PMID 6087295. doi:10.1093/nar/12.14.5779. 
• Pannicke U, Tuchschmid P, Friedrich W; et al. 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. 1997, 98 (6): 706–9. PMID 8931706. doi:10.1007/s004390050290.  引文格式1維護：顯式使用等標籤 (link)
• Markert ML, Finkel BD, McLaughlin TM; et al. Mutations in purine nucleoside phosphorylase deficiency.. Hum. Mutat. 1997, 9 (2): 118–21. PMID 9067751. doi:10.1002/(SICI)1098-1004(1997)9:2<118::AID-HUMU3>3.0.CO;2-5.  引文格式1維護：顯式使用等標籤 (link)
• Erion MD, Takabayashi K, Smith HB; et al. Purine nucleoside phosphorylase. 1. Structure-function studies.. Biochemistry. 1997, 36 (39): 11725–34. PMID 9305962. doi:10.1021/bi961969w.  引文格式1維護：顯式使用等標籤 (link)
• Erion MD, Stoeckler JD, Guida WC; et al. Purine nucleoside phosphorylase. 2. Catalytic mechanism.. Biochemistry. 1997, 36 (39): 11735–48. PMID 9305963. doi:10.1021/bi961970v.  引文格式1維護：顯式使用等標籤 (link)
• Stoeckler JD, Poirot AF, Smith RM; et al. Purine nucleoside phosphorylase. 3. Reversal of purine base specificity by site-directed mutagenesis.. Biochemistry. 1997, 36 (39): 11749–56. PMID 9305964. doi:10.1021/bi961971n.  引文格式1維護：顯式使用等標籤 (link)
• Sasaki Y, Iseki M, Yamaguchi S; et al. 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. 1998, 103 (1): 81–5. PMID 9737781. doi:10.1007/s004390050787.  引文格式1維護：顯式使用等標籤 (link)
• Sheppard TL, Ordoukhanian P, Joyce GF. A DNA enzyme with N-glycosylase activity.. Proc. Natl. Acad. Sci. U.S.A. 2000, 97 (14): 7802–7. PMC 16625 . PMID 10884411. doi:10.1073/pnas.97.14.7802. 
• Dalal I, Grunebaum E, Cohen A, Roifman CM. Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient.. Clin. Genet. 2001, 59 (6): 430–7. PMID 11453975. doi:10.1034/j.1399-0004.2001.590608.x. 
• Ivings L, Pennington SR, Jenkins R; et al. Identification of Ca2+-dependent binding partners for the neuronal calcium sensor protein neurocalcin delta: interaction with actin, clathrin and tubulin.. Biochem. J. 2002, 363 (Pt 3): 599–608. PMC 1222513 . PMID 11964161. doi:10.1042/0264-6021:3630599.  引文格式1維護：顯式使用等標籤 (link)
• Falkenberg M, Gaspari M, Rantanen A; et al. Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA.. Nat. Genet. 2002, 31 (3): 289–94. PMID 12068295. doi:10.1038/ng909.  引文格式1維護：顯式使用等標籤 (link)
• Stoychev G, Kierdaszuk B, Shugar D. Xanthosine and xanthine. Substrate properties with purine nucleoside phosphorylases, and relevance to other enzyme systems.. Eur. J. Biochem. 2002, 269 (16): 4048–57. PMID 12180982. doi:10.1046/j.1432-1033.2002.03097.x. 

外部連結

• （英文）人源PNP結構（頁面存檔備份，存於網際網路檔案館）
• （英文）細菌PNP結構（頁面存檔備份，存於網際網路檔案館）
• （英文）醫學主題詞表（MeSH）：Purine-Nucleoside+Phosphorylase