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嘌呤核苷磷酸化酶

二月 06, 2023

嘌呤核苷磷酸化酶英語：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-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.
有效结构
PDB 直系同源检索：PDBe, RCSB
标识
代号 PNP; FLJ94043; FLJ97288; FLJ97312; MGC117396; MGC125915; MGC125916; NP; PRO1837; PUNP
扩展标识 遗传学：164050 鼠基因：97365 同源基因：227 GeneCards: PNP Gene
EC編號 2.4.2.1
RNA表达模式
更多表达数据
直系同源体
物种 人类 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查询 [1] [2]

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）。

相关疾病

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。

参见

  • 磷酸化酶

深入阅读

  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 

外部链接

二月 06, 2023
嘌呤核苷磷酸化酶, 英語, purine, nucleoside, phosphorylase, 简写为pnpase, 是参与嘌呤代谢的一种酶, 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, 磷酸, pnpase, 識別符號, npentrez, 4860hugo, 7892omim, 164050pdb, 1rt9uniprot, p00491其他資料ec編號, 1基因座, 1pdb, rendering, based, 1m73, 有效结构pdb, 直系同源检索, pdbe. 嘌呤核苷磷酸化酶英語 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 1 磷酸 嘌呤核苷磷酸化酶 PNPase 識別符號 NPEntrez 4860HUGO 7892OMIM 164050PDB 1RT9UniProt 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 有效结构PDB 直系同源检索 PDBe RCSBPDB查询代码列表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标识代号PNP FLJ94043 FLJ97288 FLJ97312 MGC117396 MGC125915 MGC125916 NP PRO1837 PUNP扩展标识遗传学 164050 鼠基因 97365 同源基因 227 GeneCards PNP GeneEC編號2 4 2 1基因本体论描述分子功能 nucleoside binding purine base binding purine nucleoside phosphorylase activity purine nucleoside phosphorylase activity drug binding phosphate binding细胞成分 intracellular cytoplasm cytosol cytoskeleton生物过程 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 secretionSources Amigo QuickGORNA表达模式更多表达数据直系同源体物种人类小鼠Entrez486018950EnsemblENSG00000198805ENSMUSG00000021871UniProtP00491P23492mRNA序列NM 000270 3NM 013632 4蛋白序列NP 000261 2NP 038660 1基因位置Chr 14 20 94 20 95 MbChr 14 51 56 51 57 MbPubMed查询 1 2 查论编需要注意的是 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 目录 1 相关疾病 2 参见 3 深入阅读 4 外部链接相关疾病 编辑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 参见 编辑磷酸化酶深入阅读 编辑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维护 显式使用等标签 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维护 显式使用等标签 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维护 显式使用等标签 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维护 显式使用等标签 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 lt 118 AID HUMU3 gt 3 0 CO 2 5 引文格式1维护 显式使用等标签 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维护 显式使用等标签 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维护 显式使用等标签 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维护 显式使用等标签 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维护 显式使用等标签 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维护 显式使用等标签 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维护 显式使用等标签 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 外部链接 编辑 英文 人源PNP结构 页面存档备份 存于互联网档案馆 英文 细菌PNP结构 页面存档备份 存于互联网档案馆 英文 醫學主題詞表 MeSH Purine Nucleoside Phosphorylase 取自 https zh wikipedia org w index php title 嘌呤核苷磷酸化酶 amp oldid 67364456, 维基百科，wiki，书籍，书籍，图书馆，

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