Penning Trevor M
Center of Excellence in Environmental Toxicology, Department of Pharmacology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Chem Biol Interact. 2015 Jun 5;234:236-46. doi: 10.1016/j.cbi.2014.09.024. Epub 2014 Oct 7.
The aldo-keto reductase (AKR) protein superfamily contains >190 members that fall into 16 families and are found in all phyla. These enzymes reduce carbonyl substrates such as: sugar aldehydes; keto-steroids, keto-prostaglandins, retinals, quinones, and lipid peroxidation by-products. Exceptions include the reduction of steroid double bonds catalyzed by AKR1D enzymes (5β-reductases); and the oxidation of proximate carcinogen trans-dihydrodiol polycyclic aromatic hydrocarbons; while the β-subunits of potassium gated ion channels (AKR6 family) control Kv channel opening. AKRs are usually 37kDa monomers, have an (α/β)8-barrel motif, display large loops at the back of the barrel which govern substrate specificity, and have a conserved cofactor binding domain. AKRs catalyze an ordered bi bi kinetic mechanism in which NAD(P)H cofactor binds first and leaves last. In enzymes that favor NADPH, the rate of release of NADP(+) is governed by a slow isomerization step which places an upper limit on kcat. AKRs retain a conserved catalytic tetrad consisting of Tyr55, Asp50, Lys84, and His117 (AKR1C9 numbering). There is conservation of the catalytic mechanism with short-chain dehydrogenases/reductases (SDRs) even though they show different protein folds. There are 15 human AKRs of these AKR1B1, AKR1C1-1C3, AKR1D1, and AKR1B10 have been implicated in diabetic complications, steroid hormone dependent malignancies, bile acid deficiency and defects in retinoic acid signaling, respectively. Inhibitor programs exist world-wide to target each of these enzymes to treat the aforementioned disorders. Inherited mutations in AKR1C and AKR1D1 enzymes are implicated in defects in the development of male genitalia and bile acid deficiency, respectively, and occur in evolutionarily conserved amino acids. The human AKRs have a large number of nsSNPs and splice variants, but in many instances functional genomics is lacking. AKRs and their variants are now poised to be interrogated using modern genomic and informatics approaches to determine their association with human health and disease.
醛酮还原酶(AKR)蛋白超家族包含190多个成员,分为16个家族,存在于所有生物门类中。这些酶可还原羰基底物,如:糖醛、酮类固醇、酮前列腺素、视黄醛、醌类以及脂质过氧化副产物。例外情况包括AKR1D酶(5β-还原酶)催化的类固醇双键还原;以及近端致癌物反式二氢二醇多环芳烃的氧化;而钾离子门控通道的β亚基(AKR6家族)控制Kv通道的开放。AKR通常是37kDa的单体,具有(α/β)8桶状基序,在桶状结构的背面有大的环,这些环决定底物特异性,并且有一个保守的辅因子结合结构域。AKR催化一种有序的双底物双产物动力学机制,其中NAD(P)H辅因子首先结合且最后离开。在偏好NADPH的酶中,NADP(+)的释放速率受一个缓慢的异构化步骤控制,这对催化常数(kcat)设置了上限。AKR保留了一个由Tyr55、Asp50、Lys84和His117(AKR1C9编号)组成的保守催化四联体。尽管短链脱氢酶/还原酶(SDR)显示出不同的蛋白质折叠,但它们与AKR的催化机制存在保守性。人类有15种AKR,其中AKR1B1、AKR1C1 - 1C3、AKR1D1和AKR1B10分别与糖尿病并发症、类固醇激素依赖性恶性肿瘤、胆汁酸缺乏以及视黄酸信号传导缺陷有关。世界各地都存在针对这些酶的抑制剂研发项目,以治疗上述疾病。AKR1C和AKR1D1酶的遗传性突变分别与男性生殖器发育缺陷和胆汁酸缺乏有关,且发生在进化保守的氨基酸位点。人类AKR有大量的非同义单核苷酸多态性(nsSNP)和剪接变体,但在许多情况下缺乏功能基因组学研究。现在准备使用现代基因组学和信息学方法来研究AKR及其变体,以确定它们与人类健康和疾病的关联。