Department of Biological Chemistry, University of Athens Medical School, Athens, Greece.
Int J Biochem Cell Biol. 2010 Oct;42(10):1610-3. doi: 10.1016/j.biocel.2010.06.017. Epub 2010 Jun 25.
Polycystin-1 (PC1), encoded by the Pkd1 gene, is a large transmembrane protein whose mutation is involved in autosomal dominant polycystic kidney disease. When expressed, PC1 activates a G-protein signaling pathway that subsequently modulates Ca(2+) channels. PC1 is highly expressed in developing tissue and via its C-terminus tail forms a complex with polycystin-2; this complex, found to be located at the primary cilia, seems to act as a mechanosensor that could affect proliferation, differentiation and apoptosis of cells. Also, loss of polycystins correlates with disruption of flow-dependent and steady-state intracellular Ca(2+) signaling. Despite the lack of clarity on the role of the polycystins as mechanosensor molecules, a new interest in this PCs/primary cilium complex is providing continuously new insights. In this review, some of the known features of PC1 such as structure, function, signaling pathways involved and its role as a possible therapeutic target are being discussed.
多囊蛋白 1（PC1），由 Pkd1 基因编码，是一种大型跨膜蛋白，其突变与常染色体显性多囊肾病有关。当表达时，PC1 激活 G 蛋白信号通路，随后调节 Ca(2+)通道。PC1 在发育组织中高度表达，并通过其 C 端尾巴与多囊蛋白 2 形成复合物；该复合物位于初级纤毛中，似乎作为机械感受器发挥作用，可影响细胞的增殖、分化和凋亡。此外，多囊蛋白的缺失与依赖流动和稳定状态的细胞内 Ca(2+)信号的中断相关。尽管多囊蛋白作为机械感受器分子的作用尚不清楚，但人们对该 PCs/初级纤毛复合物的新兴趣不断提供新的见解。在这篇综述中，讨论了 PC1 的一些已知特征，如结构、功能、涉及的信号通路及其作为可能的治疗靶点的作用。
