嘌呤核苷磷酸化酶

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嘌呤核苷磷酸化酶(PNPase)
PNP(human)-structure.png
识别
符号 NP
Entrez 4860
HUGO 7892
OMIM 164050
PDB 1RT9
UniProt P00491
其他资料
EC编号 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编号 2.4.2.1
RNA表达模式
PBB GE NP 201695 s at tn.png
更多表达数据
直系同源体
物种 人类 鼠类
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]

嘌呤核苷磷酸化酶英语: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腺嘌呤肌苷次黄嘌呤鸟苷鸟嘌呤,并在这些反应中产生核糖-5-磷酸

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

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B细胞不受此缺陷影响。

参见

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.. [http//www.ncbi.nlm.nih.gov/pmc/articles/PMC1682776/ Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency.]. Am. J. Hum. Genet.. 1992, 51 (4): 763–72. PMID 1384322. PMC 1682776. 
  • 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. [http//www.ncbi.nlm.nih.gov/pmc/articles/PMC328804/ Sequence and functional characterization of the human purine nucleoside phosphorylase promoter.]. Nucleic Acids Res.. 1991, 19 (18): 5015–20. doi:10.1093/nar/19.18.5015. PMID 1923769. PMC 328804. 
  • 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. [http//www.ncbi.nlm.nih.gov/pmc/articles/PMC320030/ Human purine nucleoside phosphorylase cDNA sequence and genomic clone characterization.]. Nucleic Acids Res.. 1984, 12 (14): 5779–87. doi:10.1093/nar/12.14.5779. PMID 6087295. PMC 320030. 
  • 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. doi:10.1007/s004390050290. PMID 8931706. 
  • Markert ML, Finkel BD, McLaughlin TM, et al.. Mutations in purine nucleoside phosphorylase deficiency.. Hum. Mutat.. 1997, 9 (2): 118–21. doi:10.1002/(SICI)1098-1004(1997)9:2<118::AID-HUMU3>3.0.CO;2-5. PMID 9067751. 
  • Erion MD, Takabayashi K, Smith HB, et al.. Purine nucleoside phosphorylase. 1. Structure-function studies.. Biochemistry. 1997, 36 (39): 11725–34. doi:10.1021/bi961969w. PMID 9305962. 
  • Erion MD, Stoeckler JD, Guida WC, et al.. Purine nucleoside phosphorylase. 2. Catalytic mechanism.. Biochemistry. 1997, 36 (39): 11735–48. doi:10.1021/bi961970v. PMID 9305963. 
  • 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. doi:10.1021/bi961971n. PMID 9305964. 
  • 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. doi:10.1007/s004390050787. PMID 9737781. 
  • Sheppard TL, Ordoukhanian P, Joyce GF. [http//www.ncbi.nlm.nih.gov/pmc/articles/PMC16625/ A DNA enzyme with N-glycosylase activity.]. Proc. Natl. Acad. Sci. U.S.A.. 2000, 97 (14): 7802–7. doi:10.1073/pnas.97.14.7802. PMID 10884411. PMC 16625. 
  • 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. doi:10.1034/j.1399-0004.2001.590608.x. PMID 11453975. 
  • Ivings L, Pennington SR, Jenkins R, et al.. [http//www.ncbi.nlm.nih.gov/pmc/articles/PMC1222513/ 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. doi:10.1042/0264-6021:3630599. PMID 11964161. PMC 1222513. 
  • 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. doi:10.1038/ng909. PMID 12068295. 
  • 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. doi:10.1046/j.1432-1033.2002.03097.x. PMID 12180982. 

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