嘌呤核苷磷酸化酶

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嘌呤核苷磷酸化酶（PNPase）

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

PDB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 Gene

EC编号

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 secretion
Sources: Amigo / QuickGO

RNA表达模式

更多表达数据

直系同源体

物种

人类

鼠类

Entrez

Ensembl

UniProt

mRNA序列

蛋白序列

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）。

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.. [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

葡萄糖基转移酶类	磷酸化酶（淀粉磷酸化酶、糖原磷酸化酶、肌磷酸化酶） · 糖原合成酶 · 糖原脱支酶 · 糖原分支酶 · 1,3-β-葡聚糖合成酶 · 酰基鞘氨醇葡萄糖转移酶

半乳糖基转移酶类	乳糖合成酶 · B-N-乙酰葡糖胺-糖肽b-1,4-半乳糖基转移酶 · 糖蛋白-N-乙酰半乳糖胺3-β-半乳糖基转移酶（C1GALT1）

葡萄糖醛酸基转移酶类	B3GAT1、B3GAT2、B3GAT3 UGT1A1、UGT1A3、UGT1A4、UGT1A5、UGT1A6、UGT1A7、UGT1A8、UGT1A9、UGT1A10 UGT2A1、UGT2A2、UGT2A3、UGT2B4、UGT2B7、UGT2B10、UGT2B11、UGT2B15、UGT2B17、UGT2B28 透明质酸合成酶（HAS1 · HAS2 · HAS3）

岩藻糖基转移酶类	POFUT1 · POFUT2 · FUT1 · FUT2 · FUT3 · FUT4 · FUT5 · FUT6 · FUT7 · FUT8 · FUT9 · FUT10 · FUT11

甘露糖基转移酶类	长萜基磷酸甘露糖蛋白甘露糖基转移酶（POMT1、POMT2） · DPM1 · DPM3 ALG1 · ALG2 · ALG3 · ALG6 · ALG8 · ALG9 · ALG12

2.4.2：戊糖基转移酶类

核糖基转移酶类

ADP-核糖基转移酶类	NAD+-白喉酰胺ADP-核糖基转移酶（白喉毒素） NAD(P)+-蛋白质-精氨酸ADP-核糖基转移酶（百日咳毒素 · 霍乱毒素）聚ADP核糖聚合酶去乙酰化酶

磷酸核糖基转移酶类	腺嘌呤磷酸核糖基转移酶 · 次黄嘌呤-鸟嘌呤磷酸核糖基转移酶 · 尿嘧啶磷酸核糖基转移酶 · 酰胺磷酸核糖基转移酶

其他	嘌呤核苷磷酸化酶：胸苷磷酸化酶（ECGF1）

其他

木糖基转移酶 · 阿拉伯糖基转移酶（吲哚基乙酰肌醇阿拉伯糖基转移酶）

2.4.99：唾液酸转移酶类

β-半乳糖苷α-2,6-唾液酸转移酶 · 单唾液酸神经节苷脂唾液酸转移酶 · ST8SIA4

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

代谢：核苷酸代谢 · 核苷酸酶

嘌呤代谢

合成代谢	R5P->IMP：核糖-磷酸二磷酸激酶 · 酰胺基磷酸核糖基转移酶 · 磷酸核糖基甘氨酰胺甲酰基转移酶 · AIR synthetase (FGAM cyclase) · 磷酸核糖酰氨基咪唑羧化酶 · 磷酸核糖酰氨咪唑琥珀酸甲酰胺合酶 · IMP合酶 IMP->AMP：腺嘌呤琥珀酸合酶 · 腺苷酸琥珀酸裂解酶 · reverse (AMP deaminase) IMP->GMP： IMP脱氢酶 · GMP合酶 · reverse (GMP reductase)

核苷酸补救	次黄嘌呤-鸟嘌呤磷酸核糖基转移酶 · 腺嘌呤磷酸核糖转移酶

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	CAD (氨甲酰磷酸合酶II、天冬氨酸转氨甲酰酶、二氢乳清酸酶) 双氢乳清酸酯脱氢酶 · 乳清酸核苷5'-磷酸脱羧酶/尿苷酸合成酶 CTP synthase

分解代谢	二氢嘧啶脱氢酶 · 二氢嘧啶酶/DPYS · β-脲基丙酸酶/UPB1

脱氧核苷酸

核糖核苷酸还原酶 · 核苷-二磷酸激酶 · DCMP脱氨酶 · 胸苷酸合酶 · 二氢叶酸还原酶

参考来源

维基百科-嘌呤核苷磷酸化酶

2个分类: 位于14号人类染色体的基因 | 人类蛋白质

嘌呤核苷磷酸化酶

目录

相关疾病

参见

深入阅读

外部链接

参考来源