Department of Pharmacology, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520, USA.
Proc Natl Acad Sci U S A. 2010 May 18;107(20):9176-81. doi: 10.1073/pnas.0912295107. Epub 2010 May 3.
The C-terminal cytoplasmic tail of polycystin-2 (PC2/TRPP2), a Ca(2+)-permeable channel, is frequently mutated or truncated in autosomal dominant polycystic kidney disease. We have previously shown that this tail consists of three functional regions: an EF-hand domain (PC2-EF, 720-797), a flexible linker (798-827), and an oligomeric coiled coil domain (828-895). We found that PC2-EF binds Ca(2+) at a single site and undergoes Ca(2+)-dependent conformational changes, suggesting it is an essential element of Ca(2+)-sensitive regulation of PC2 activity. Here we describe the NMR structure and dynamics of Ca(2+)-bound PC2-EF. Human PC2-EF contains a divergent non-Ca(2+)-binding helix-loop-helix (HLH) motif packed against a canonical Ca(2+)-binding EF-hand motif. This HLH motif may have evolved from a canonical EF-hand found in invertebrate PC2 homologs. Temperature-dependent steady-state NOE experiments and NMR R(1) and R(2) relaxation rates correlate with increased molecular motion in the EF-hand, possibly due to exchange between apo and Ca(2+)-bound states, consistent with a role for PC2-EF as a Ca(2+)-sensitive regulator. Structure-based sequence conservation analysis reveals a conserved hydrophobic surface in the same region, which may mediate Ca(2+)-dependent protein interactions. We propose that Ca(2+)-sensing by PC2-EF is responsible for the cooperative nature of PC2 channel activation and inhibition. Based on our results, we present a mechanism of regulation of the Ca(2+) dependence of PC2 channel activity by PC2-EF.
多囊蛋白-2(PC2/TRPP2)的 C 端细胞质尾部是一种 Ca(2+)可渗透通道,在常染色体显性多囊肾病中经常发生突变或截断。我们之前已经表明,该尾部由三个功能区域组成:一个 EF 手结构域(PC2-EF,720-797)、一个柔性接头(798-827)和一个寡聚卷曲螺旋结构域(828-895)。我们发现 PC2-EF 在一个单一的位点结合 Ca(2+),并发生 Ca(2+)-依赖性构象变化,这表明它是 Ca(2+)-敏感调节 PC2 活性的一个基本要素。在这里,我们描述了 Ca(2+)-结合的 PC2-EF 的 NMR 结构和动力学。人 PC2-EF 包含一个发散的非 Ca(2+)-结合的螺旋环螺旋(HLH)基序,与一个典型的 Ca(2+)-结合的 EF 手基序结合。这种 HLH 基序可能是从无脊椎动物 PC2 同源物中的一个典型 EF 手进化而来的。温度依赖性稳态 NOE 实验和 NMR R(1)和 R(2)弛豫率与 EF 手的分子运动增加相关,这可能是由于 apo 和 Ca(2+)-结合状态之间的交换,与 PC2-EF 作为 Ca(2+)-敏感调节剂的作用一致。基于结构的序列保守性分析揭示了同一区域的一个保守的疏水面,这可能介导 Ca(2+)-依赖性的蛋白质相互作用。我们提出,PC2-EF 的 Ca(2+)感应负责 PC2 通道激活和抑制的协同性质。基于我们的结果,我们提出了 PC2-EF 调节 PC2 通道活性的 Ca(2+)依赖性的机制。