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]
This box:

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。

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细胞和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. 

外部链接

糖基转移酶类（EC 2.4）
2.4.1：己糖基转移酶类
POFUT1 · POFUT2 · FUT1 · FUT2 · FUT3 · FUT4 · FUT5 · FUT6 · FUT7 · FUT8 · FUT9 · FUT10 · FUT11
2.4.2：戊糖基转移酶类
其他
嘌呤核苷磷酸化酶：胸苷磷酸化酶（ECGF1）
其他
2.4.99：唾液酸转移酶类

EC 1.1/2/3/4/5/6/7/8/9/10/11/12/13/14/15/16/17/18/19/20/21/22  · 2.1/2/3/4/5/6/7(2.7.10/11-12)/8/9  · 3.1/2/3/4(3.4.21/22/23/24)/5/6/7/8/9/10/11/12/13  ·

4.1/2/3/4/5/6 · 5.1/2/3/4/5 · 6.1/2/3/4/5/6
嘌呤代谢
合成代谢
分解代谢
腺苷脱氨酶 · 嘌呤核苷磷酸化酶 · 鸟嘌呤脱氨酶 · 黄嘌呤氧化酶 · 尿酸氧化酶
嘧啶代谢
合成代谢
分解代谢
脱氧核苷酸

参考来源

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