腺苷脱氨酶

腺苷脱氨酶
牛腺苷脱氨酶的丝带图。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 PDB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 Gene
EC编号	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 secretion Sources: Amigo / QuickGO
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)
鉴定
标志	A_deaminase
Pfam	PF00962（旧版）
Pfam宗系	CL0034（旧版）
InterPro	IPR001365
PROSITE	PDOC00419
SCOP	1add / SUPFAM
现有可用的蛋白结构： Pfam 结构（旧版） / ECOD PDB RCSB PDB; PDBe; PDBj PDBsum 结构概要

Adenosine deaminase (editase) domain
鉴定
标志	A_deamin
Pfam	PF02137（旧版）
InterPro	IPR002466
PROSITE	PDOC00419
SCOP	1add / SUPFAM
现有可用的蛋白结构： Pfam 结构（旧版） / ECOD PDB RCSB PDB; PDBe; PDBj PDBsum 结构概要

Adenosine/AMP deaminase N-terminal
鉴定
标志	A_deaminase_N
Pfam	PF08451（旧版）
InterPro	IPR013659
现有可用的蛋白结构： Pfam 结构（旧版） / ECOD PDB RCSB PDB; PDBe; PDBj PDBsum 结构概要

腺苷脱氨酶（英语：Adenosine deaminase）的是一种参与嘌呤代谢作用的酶。它是用作拆解食物组织中的核酸中的腺苷。在人体中，它主要参与了免疫细胞的制造。若该酶突变，会造成T细胞、B细胞及自然杀手细胞皆无法表现的严重复合型免疫缺乏症(SCID)。

反应

腺苷脱氨酶对腺苷进行不可逆转的脱氨作用，转化腺苷为相关的核苷肌苷，移除氨基酸组。

病理学

腺苷脱氨酶的突变基因使之不容易被表达，这是一些严重复合型免疫缺乏症(SCID)的原因。基因突变令ADA被过度产生是溶血性贫血原因之一。有一些证据表明，一个不同的等位基因(ADA2)可能会导致自闭症。

ADA活性异常与多种疾病相关，如当人体发生结核杆菌侵袭时，人体主要启动细胞免疫，T淋巴细胞和单核巨噬细胞被分枝杆菌激活可引起ADA的活性增强，且间皮细胞吞噬分枝杆菌后产生的特异性细胞因子亦诱导ADA的活性增强。

深入阅读

• 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.  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)
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• 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)
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• 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 . 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 . 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.  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 . 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)