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
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
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
RNA表達模式
PBB GE NP 201695 s at tn.png
更多表達數據
直系同源體
物種 人類 鼠類
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]
This box:

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-5-磷酸。

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）。

目錄

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

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. 
  • 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. 

外部連結

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

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
嘌呤代謝
合成代謝
分解代謝
腺苷脫氨酶 · 嘌呤核苷磷酸化酶 · 鳥嘌呤脫氨酶 · 黃嘌呤氧化酶 · 尿酸氧化酶
嘧啶代謝
合成代謝
分解代謝
脫氧核苷酸

參考來源

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