Clausen Michael V, Hilbers Florian, Poulsen Hanne
Department of Molecular Biology and Genetics, Aarhus UniversityAarhus, Denmark.
Front Physiol. 2017 Jun 6;8:371. doi: 10.3389/fphys.2017.00371. eCollection 2017.
The sodium and potassium gradients across the plasma membrane are used by animal cells for numerous processes, and the range of demands requires that the responsible ion pump, the Na,K-ATPase, can be fine-tuned to the different cellular needs. Therefore, several isoforms are expressed of each of the three subunits that make a Na,K-ATPase, the alpha, beta and FXYD subunits. This review summarizes the various roles and expression patterns of the Na,K-ATPase subunit isoforms and maps the sequence variations to compare the differences structurally. Mutations in the Na,K-ATPase genes encoding alpha subunit isoforms have severe physiological consequences, causing very distinct, often neurological diseases. The differences in the pathophysiological effects of mutations further underline how the kinetic parameters, regulation and proteomic interactions of the Na,K-ATPase isoforms are optimized for the individual cellular needs.
动物细胞利用跨质膜的钠钾梯度进行多种生理过程，由于需求范围广泛，负责的离子泵即钠钾ATP酶需要根据不同的细胞需求进行精细调节。因此，构成钠钾ATP酶的三个亚基（α、β和FXYD亚基）各自都有多种亚型表达。本综述总结了钠钾ATP酶亚基亚型的各种作用和表达模式，并绘制序列变异图谱以比较结构上的差异。编码α亚基亚型的钠钾ATP酶基因突变会产生严重的生理后果，导致非常独特且往往是神经方面的疾病。突变在病理生理效应上的差异进一步凸显了钠钾ATP酶亚型的动力学参数、调节和蛋白质组学相互作用是如何针对个体细胞需求进行优化的。
