Division of Nephrology and Hypertension, Oregon Health and Science University and Veterans Affairs Medical Center, Portland, Oregon 97239, USA.
Physiol Rev. 2011 Jan;91(1):177-219. doi: 10.1152/physrev.00017.2010.
WNKs are serine/threonine kinases that comprise a unique branch of the kinome. They are so-named owing to the unusual placement of an essential catalytic lysine. WNKs have now been identified in diverse organisms. In humans and other mammals, four genes encode WNKs. WNKs are widely expressed at the message level, although data on protein expression is more limited. Soon after the WNKs were identified, mutations in genes encoding WNK1 and -4 were determined to cause the human disease familial hyperkalemic hypertension (also known as pseudohypoaldosteronism II, or Gordon's Syndrome). For this reason, a major focus of investigation has been to dissect the role of WNK kinases in renal regulation of ion transport. More recently, a different mutation in WNK1 was identified as the cause of hereditary sensory and autonomic neuropathy type II, an early-onset autosomal disease of peripheral sensory nerves. Thus the WNKs represent an important family of potential targets for the treatment of human disease, and further elucidation of their physiological actions outside of the kidney and brain is necessary. In this review, we describe the gene structure and mechanisms regulating expression and activity of the WNKs. Subsequently, we outline substrates and targets of WNKs as well as effects of WNKs on cellular physiology, both in the kidney and elsewhere. Next, consequences of these effects on integrated physiological function are outlined. Finally, we discuss the known and putative pathophysiological relevance of the WNKs.
WNKs 是丝氨酸/苏氨酸激酶,构成了激酶组的一个独特分支。它们之所以被命名,是因为一个必需的催化赖氨酸的位置异常。WNKs 现已在多种生物体中被鉴定出来。在人类和其他哺乳动物中,有四个基因编码 WNKs。WNKs 在信使水平上广泛表达,尽管关于蛋白质表达的数据更为有限。WNKs 被鉴定后不久,编码 WNK1 和 -4 的基因中的突变被确定为导致人类疾病家族性高钾性高血压(也称为假性醛固酮减少症 II 或 Gordon 综合征)的原因。因此,研究的一个主要重点是剖析 WNK 激酶在肾脏离子转运调节中的作用。最近,WNK1 中的一个不同突变被确定为遗传性感觉和自主神经病 II 型的原因,这是一种外周感觉神经的早发性常染色体疾病。因此,WNKs 代表了一类重要的潜在治疗人类疾病的靶点,有必要进一步阐明它们在肾脏和大脑以外的生理作用。在这篇综述中,我们描述了 WNKs 的基因结构和调节表达和活性的机制。随后,我们概述了 WNKs 的底物和靶点以及 WNKs 对细胞生理学的影响,包括在肾脏和其他部位的影响。接下来,概述了这些影响对综合生理功能的后果。最后,我们讨论了 WNKs 的已知和潜在的病理生理学相关性。