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维基百科

腺苷脫氨酶

十月 07, 2023

腺苷脫氨酶（英語：Adenosine deaminase）的是一種參與嘌呤代謝作用的酶。它是用作拆解食物組織中的核酸中的腺苷。在人體中，它主要參與了免疫細胞的製造。若該酶突變，會造成T細胞、B細胞及自然殺手細胞皆無法表現的嚴重複合型免疫缺乏症(SCID)。

腺苷脫氨酶
牛腺苷脫氨酶的丝带图。可见中央的锌离子。来自PDB 1VFL
有效结构
PDB 直系同源检索：PDBe, RCSB
标识
代号 ADA;
扩展标识 遗传学：608958 鼠基因：87916 同源基因：37249 GeneCards: ADA Gene
EC編號 3.5.4.4
RNA表达模式
更多表达数据
直系同源体
物种 人类 小鼠
Entrez 100 11486
Ensembl ENSG00000196839 ENSMUSG00000017697
UniProt P00813 Q4FJZ7
mRNA序列 NM_000022.2 NM_007398.3
蛋白序列 NP_000013.2 NP_031424.1
基因位置 Chr 20:
43.25 – 43.28 Mb		 Chr 2:
163.55 – 163.58 Mb
PubMed查询 [1] [2]
Adenosine/AMP deaminase
crystal structure of plasmodium yoelii adenosine deaminase (py02076)
鑑定
標誌A_deaminase
PfamPF00962（旧版）
Pfam宗系CL0034（旧版）
InterPro（英语：InterPro）IPR001365
PROSITE（英语：PROSITE）PDOC00419
SCOP（英语：Structural Classification of Proteins）1add / SUPFAM
現有可用的蛋白結構：
Pfam結構（旧版） / ECOD
PDBRCSB PDB; PDBe; PDBj
PDBsum（英语：PDBsum）結構概要
Adenosine deaminase (editase) domain
鑑定
標誌A_deamin
PfamPF02137（旧版）
InterPro（英语：InterPro）IPR002466
PROSITE（英语：PROSITE）PDOC00419
SCOP（英语：Structural Classification of Proteins）1add / SUPFAM
現有可用的蛋白結構：
Pfam結構（旧版） / ECOD
PDBRCSB PDB; PDBe; PDBj
PDBsum（英语：PDBsum）結構概要
Adenosine/AMP deaminase N-terminal
鑑定
標誌A_deaminase_N
PfamPF08451（旧版）
InterPro（英语：InterPro）IPR013659
現有可用的蛋白結構：
Pfam結構（旧版） / ECOD
PDBRCSB PDB; PDBe; PDBj
PDBsum（英语：PDBsum）結構概要

反應 编辑

腺苷脫氨酶對腺苷進行不可逆轉的脫氨作用，轉化腺苷為相關的核苷肌苷，移除氨基酸組。

病理學 编辑

腺苷脫氨酶的突變基因使之不容易被表達，這是一些嚴重複合型免疫缺乏症(SCID)的原因。基因突變令ADA被過度產生是溶血性貧血原因之一。有一些證據表明，一個不同的等位基因(ADA2)可能會導致自閉症。

ADA活性異常與多種疾病相關，如當人體發生結核桿菌侵襲時，人體主要啓動細胞免疫，T淋巴細胞和單核巨噬細胞被分枝桿菌激活可引起ADA的活性增強，且間皮細胞吞噬分枝桿菌後產生的特異性細胞因子亦誘導ADA的活性增強。

参考文献 编辑

深入阅读 编辑

  • da Cunha JG. [Adenosine deaminase. A pluridisciplinary enzyme]. Acta médica portuguesa. 1992, 4 (6): 315–23. PMID 1807098. 
  • Franco R, Casadó V, Ciruela F; et al. Cell surface adenosine deaminase: much more than an ectoenzyme. Prog. Neurobiol. 1997, 52 (4): 283–94. PMID 9247966. doi:10.1016/S0301-0082(97)00013-0. 
  • Valenzuela A, Blanco J, Callebaut C; et al. HIV-1 envelope gp120 and viral particles block adenosine deaminase binding to human CD26. Adv. Exp. Med. Biol. 1997, 421: 185–92. PMID 9330696. 
  • Moriwaki Y, Yamamoto T, Higashino K. Enzymes involved in purine metabolism--a review of histochemical localization and functional implications. Histol. Histopathol. 1999, 14 (4): 1321–40. PMID 10506947. 
  • Hirschhorn R. Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions. Hum. Mutat. 1993, 1 (2): 166–8. PMID 1284479. doi:10.1002/humu.1380010214. 
  • Berkvens TM, van Ormondt H, Gerritsen EJ; et al. Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelated ADA-SCID patients. Genomics. 1990, 7 (4): 486–90. PMID 1696926. doi:10.1016/0888-7543(90)90190-6. 
  • Aran JM, Colomer D, Matutes E; et al. Presence of adenosine deaminase on the surface of mononuclear blood cells: immunochemical localization using light and electron microscopy. J. Histochem. Cytochem. 1991, 39 (8): 1001–8. PMID 1856451. 
  • Bielat K, Tritsch GL. Ecto-enzyme activity of human erythrocyte adenosine deaminase. Mol. Cell. Biochem. 1989, 86 (2): 135–42. PMID 2770711. doi:10.1007/BF00222613. 
  • Hirschhorn R, Tzall S, Ellenbogen A, Orkin SH. Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency. J. Clin. Invest. 1989, 83 (2): 497–501. PMC 303706  . PMID 2783588. doi:10.1172/JCI113909. 
  • Murray JL, Perez-Soler R, Bywaters D, Hersh EM. Decreased adenosine deaminase (ADA) and 5'nucleotidase (5NT) activity in peripheral blood T cells in Hodgkin disease. Am. J. Hematol. 1986, 21 (1): 57–66. PMID 3010705. doi:10.1002/ajh.2830210108. 
  • Wiginton DA, Kaplan DJ, States JC; et al. Complete sequence and structure of the gene for human adenosine deaminase. Biochemistry. 1987, 25 (25): 8234–44. PMID 3028473. doi:10.1021/bi00373a017. 
  • Akeson AL, Wiginton DA, Dusing MR; et al. Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts. J. Biol. Chem. 1988, 263 (31): 16291–6. PMID 3182793. 
  • Glader BE, Backer K. Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases. Br. J. Haematol. 1988, 68 (2): 165–8. PMID 3348976. doi:10.1111/j.1365-2141.1988.tb06184.x. 
  • Petersen MB, Tranebjaerg L, Tommerup N; et al. New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q. J. Med. Genet. 1987, 24 (2): 93–6. PMC 1049896  . PMID 3560174. doi:10.1136/jmg.24.2.93. 
  • Orkin SH, Goff SC, Kelley WN, Daddona PE. Transient expression of human adenosine deaminase cDNAs: identification of a nonfunctional clone resulting from a single amino acid substitution. Mol. Cell. Biol. 1985, 5 (4): 762–7. PMC 366780  . PMID 3838797. 
  • Valerio D, Duyvesteyn MG, Dekker BM; et al. Adenosine deaminase: characterization and expression of a gene with a remarkable promoter. EMBO J. 1985, 4 (2): 437–43. PMC 554205  . PMID 3839456. 
  • Bonthron DT, Markham AF, Ginsburg D, Orkin SH. Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency. J. Clin. Invest. 1985, 76 (2): 894–7. PMC 423929  . PMID 3839802. doi:10.1172/JCI112050. 
  • Daddona PE, Shewach DS, Kelley WN; et al. Human adenosine deaminase. cDNA and complete primary amino acid sequence. J. Biol. Chem. 1984, 259 (19): 12101–6. PMID 6090454. 
  • Valerio D, Duyvesteyn MG, Meera Khan P; et al. Isolation of cDNA clones for human adenosine deaminase. Gene. 1984, 25 (2-3): 231–40. PMID 6198240. doi:10.1016/0378-1119(83)90227-5. 

十月 07, 2023
腺苷脫氨酶, 英語, adenosine, deaminase, 的是一種參與嘌呤代謝作用的酶, 它是用作拆解食物組織中的核酸中的腺苷, 在人體中, 它主要參與了免疫細胞的製造, 若該酶突變, 會造成t細胞, b細胞及自然殺手細胞皆無法表現的嚴重複合型免疫缺乏症, scid, 牛的丝带图, 可见中央的锌离子, 来自pdb, 1vfl有效结构pdb, 直系同源检索, pdbe, rcsbpdb查询代码列表1m7m, 3iar标识代号ada, 扩展标识遗传学, 608958, 鼠基因, 87916, 同源基因, 372. 腺苷脫氨酶 英語 Adenosine deaminase 的是一種參與嘌呤代謝作用的酶 它是用作拆解食物組織中的核酸中的腺苷 在人體中 它主要參與了免疫細胞的製造 若該酶突變 會造成T細胞 B細胞及自然殺手細胞皆無法表現的嚴重複合型免疫缺乏症 SCID 腺苷脫氨酶牛腺苷脫氨酶的丝带图 可见中央的锌离子 来自PDB 1VFL有效结构PDB 直系同源检索 PDBe RCSBPDB查询代码列表1M7M 3IAR标识代号ADA 扩展标识遗传学 608958 鼠基因 87916 同源基因 37249 GeneCards ADA GeneEC編號3 5 4 4基因本体论描述分子功能 purine nucleoside binding adenosine deaminase activity adenosine deaminase activity adenosine deaminase activity protein binding zinc ion binding zinc ion binding hydrolase activity metal ion binding细胞成分 extracellular space cytoplasm lysosome cytosol plasma membrane external side of plasma membrane cell surface membrane cell junction cytoplasmic vesicle dendrite cytoplasm neuronal cell body cytoplasmic membrane bounded vesicle lumen生物过程 response to hypoxia in utero embryonic development trophectodermal cell differentiation liver development placenta development germinal center B cell differentiation positive regulation of germinal center formation negative regulation of leukocyte migration negative regulation of mature B cell apoptosis purine base metabolic process adenosine catabolic process adenosine catabolic process deoxyadenosine catabolic process cell adhesion aging nucleotide metabolic process purine ribonucleoside monophosphate biosynthetic process positive regulation of heart rate positive regulation of B cell proliferation purine nucleotide salvage positive regulation of T cell differentiation in thymus regulation of cell cell adhesion mediated by integrin T cell activation response to hydrogen peroxide negative regulation of apoptosis purine containing compound salvage regulation of circadian sleep wake cycle sleep positive regulation of smooth muscle contraction dATP catabolic process hypoxanthine biosynthetic process inosine biosynthetic process inosine biosynthetic process xanthine biosynthetic process positive regulation of alpha beta T cell differentiation lung alveolus development Peyer s patch development embryonic digestive tract development negative regulation of inflammatory response positive regulation of calcium mediated signaling positive regulation of T cell receptor signaling pathway nucleobase nucleoside and nucleotide metabolic process negative regulation of adenosine receptor signaling pathway negative regulation of penile erection negative regulation of thymocyte apoptosis negative regulation of mucus secretionSources Amigo QuickGORNA表达模式更多表达数据直系同源体物种人类小鼠Entrez10011486EnsemblENSG00000196839ENSMUSG00000017697UniProtP00813Q4FJZ7mRNA序列NM 000022 2NM 007398 3蛋白序列NP 000013 2NP 031424 1基因位置Chr 20 43 25 43 28 MbChr 2 163 55 163 58 MbPubMed查询 1 2 查论编Adenosine AMP deaminasecrystal structure of plasmodium yoelii adenosine deaminase py02076 鑑定標誌A deaminasePfamPF00962 旧版 Pfam宗系CL0034 旧版 InterPro 英语 InterPro IPR001365PROSITE 英语 PROSITE PDOC00419SCOP 英语 Structural Classification of Proteins 1add SUPFAM現有可用的蛋白結構 Pfam結構 旧版 ECODPDBRCSB PDB PDBe PDBjPDBsum 英语 PDBsum 結構概要Adenosine deaminase editase domain鑑定標誌A deaminPfamPF02137 旧版 InterPro 英语 InterPro IPR002466PROSITE 英语 PROSITE PDOC00419SCOP 英语 Structural Classification of Proteins 1add SUPFAM現有可用的蛋白結構 Pfam結構 旧版 ECODPDBRCSB PDB PDBe PDBjPDBsum 英语 PDBsum 結構概要Adenosine AMP deaminase N terminal鑑定標誌A deaminase NPfamPF08451 旧版 InterPro 英语 InterPro IPR013659現有可用的蛋白結構 Pfam結構 旧版 ECODPDBRCSB PDB PDBe PDBjPDBsum 英语 PDBsum 結構概要 目录 1 反應 2 病理學 3 参考文献 4 深入阅读反應 编辑腺苷脫氨酶對腺苷進行不可逆轉的脫氨作用 轉化腺苷為相關的核苷肌苷 移除氨基酸組 病理學 编辑腺苷脫氨酶的突變基因使之不容易被表達 這是一些嚴重複合型免疫缺乏症 SCID 的原因 基因突變令ADA被過度產生是溶血性貧血原因之一 有一些證據表明 一個不同的等位基因 ADA2 可能會導致自閉症 ADA活性異常與多種疾病相關 如當人體發生結核桿菌侵襲時 人體主要啓動細胞免疫 T淋巴細胞和單核巨噬細胞被分枝桿菌激活可引起ADA的活性增強 且間皮細胞吞噬分枝桿菌後產生的特異性細胞因子亦誘導ADA的活性增強 参考文献 编辑深入阅读 编辑da Cunha JG Adenosine deaminase A pluridisciplinary enzyme Acta medica portuguesa 1992 4 6 315 23 PMID 1807098 Franco R Casado V Ciruela F et al Cell surface adenosine deaminase much more than an ectoenzyme Prog Neurobiol 1997 52 4 283 94 PMID 9247966 doi 10 1016 S0301 0082 97 00013 0 引文格式1维护 显式使用等标签 link Valenzuela A Blanco J Callebaut C et al HIV 1 envelope gp120 and viral particles block adenosine deaminase binding to human CD26 Adv Exp Med Biol 1997 421 185 92 PMID 9330696 引文格式1维护 显式使用等标签 link Moriwaki Y Yamamoto T Higashino K Enzymes involved in purine metabolism a review of histochemical localization and functional implications Histol Histopathol 1999 14 4 1321 40 PMID 10506947 Hirschhorn R Identification of two new missense mutations R156C and S291L in two ADA SCID patients unusual for response to therapy with partial exchange transfusions Hum Mutat 1993 1 2 166 8 PMID 1284479 doi 10 1002 humu 1380010214 Berkvens TM van Ormondt H Gerritsen EJ et al Identical 3250 bp deletion between two AluI repeats in the ADA genes of unrelated ADA SCID patients Genomics 1990 7 4 486 90 PMID 1696926 doi 10 1016 0888 7543 90 90190 6 引文格式1维护 显式使用等标签 link Aran JM Colomer D Matutes E et al Presence of adenosine deaminase on the surface of mononuclear blood cells immunochemical localization using light and electron microscopy J Histochem Cytochem 1991 39 8 1001 8 PMID 1856451 引文格式1维护 显式使用等标签 link Bielat K Tritsch GL Ecto enzyme activity of human erythrocyte adenosine deaminase Mol Cell Biochem 1989 86 2 135 42 PMID 2770711 doi 10 1007 BF00222613 Hirschhorn R Tzall S Ellenbogen A Orkin SH Identification of a point mutation resulting in a heat labile adenosine deaminase ADA in two unrelated children with partial ADA deficiency J Clin Invest 1989 83 2 497 501 PMC 303706 nbsp PMID 2783588 doi 10 1172 JCI113909 Murray JL Perez Soler R Bywaters D Hersh EM Decreased adenosine deaminase ADA and 5 nucleotidase 5NT activity in peripheral blood T cells in Hodgkin disease Am J Hematol 1986 21 1 57 66 PMID 3010705 doi 10 1002 ajh 2830210108 Wiginton DA Kaplan DJ States JC et al Complete sequence and structure of the gene for human adenosine deaminase Biochemistry 1987 25 25 8234 44 PMID 3028473 doi 10 1021 bi00373a017 引文格式1维护 显式使用等标签 link Akeson AL Wiginton DA Dusing MR et al Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts J Biol Chem 1988 263 31 16291 6 PMID 3182793 引文格式1维护 显式使用等标签 link Glader BE Backer K Elevated red cell adenosine deaminase activity a marker of disordered erythropoiesis in Diamond Blackfan anaemia and other haematologic diseases Br J Haematol 1988 68 2 165 8 PMID 3348976 doi 10 1111 j 1365 2141 1988 tb06184 x Petersen MB Tranebjaerg L Tommerup N et al New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q J Med Genet 1987 24 2 93 6 PMC 1049896 nbsp PMID 3560174 doi 10 1136 jmg 24 2 93 引文格式1维护 显式使用等标签 link Orkin SH Goff SC Kelley WN Daddona PE Transient expression of human adenosine deaminase cDNAs identification of a nonfunctional clone resulting from a single amino acid substitution Mol Cell Biol 1985 5 4 762 7 PMC 366780 nbsp PMID 3838797 Valerio D Duyvesteyn MG Dekker BM et al Adenosine deaminase characterization and expression of a gene with a remarkable promoter EMBO J 1985 4 2 437 43 PMC 554205 nbsp PMID 3839456 引文格式1维护 显式使用等标签 link Bonthron DT Markham AF Ginsburg D Orkin SH Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency J Clin Invest 1985 76 2 894 7 PMC 423929 nbsp PMID 3839802 doi 10 1172 JCI112050 Daddona PE Shewach DS Kelley WN et al Human adenosine deaminase cDNA and complete primary amino acid sequence J Biol Chem 1984 259 19 12101 6 PMID 6090454 引文格式1维护 显式使用等标签 link Valerio D Duyvesteyn MG Meera Khan P et al Isolation of cDNA clones for human adenosine deaminase Gene 1984 25 2 3 231 40 PMID 6198240 doi 10 1016 0378 1119 83 90227 5 引文格式1维护 显式使用等标签 link 取自 https zh wikipedia org w index php title 腺苷脫氨酶 amp oldid 69143463, 维基百科，wiki，书籍，书籍，图书馆，

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