| 嘌呤核苷磷酸化酶 |
PDB rendering based on 1m73. |
| 有效結(jié)構(gòu) |
| PDB |
直系同源檢索：PDBe, RCSB |
| PDB查詢代碼列表 |
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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
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| 標(biāo)識(shí) |
| 代號(hào) |
PNP; FLJ94043; FLJ97288; FLJ97312; MGC117396; MGC125915; MGC125916; NP; PRO1837; PUNP |
| 擴(kuò)展標(biāo)識(shí) |
遺傳學(xué)：164050 鼠基因：97365 同源基因：227 GeneCards: PNP Gene |
| EC編號(hào) |
2.4.2.1 |
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| RNA表達(dá)模式 |
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| 更多表達(dá)數(shù)據(jù) |
| 直系同源體 |
| 物種 |
人類 |
鼠類 |
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| Entrez |
4860 |
18950 |
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| Ensembl |
ENSG00000198805 |
ENSMUSG00000021871 |
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| UniProt |
P00491 |
P23492 |
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| mRNA序列 |
NM_000270.3 |
NM_013632.4 |
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| 蛋白序列 |
NP_000261.2 |
NP_038660.1 |
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| 基因位置 |
Chr 14:
20.94 – 20.95 Mb |
Chr 14:
51.56 – 51.57 Mb |
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| PubMed查詢 |
[1] |
[2] |
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嘌呤核苷磷酸化酶英語(yǔ)：Purine nucleoside phosphorylase，簡(jiǎn)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，并在這些反應(yīng)中產(chǎn)生核糖-5-磷酸。
需要注意的是，PNPase這一簡(jiǎn)稱還被用于另一個(gè)不相關(guān)的酶，多核苷酸磷酸化酶（Polynucleotide Phosphorylase）。
相關(guān)疾病
嘌呤核苷磷酸化酶缺陷型病患會(huì)有免疫缺陷，而只有免疫系統(tǒng)中的T細(xì)胞和B細(xì)胞不受此缺陷影響。
參見(jiàn)
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.
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