Faculty of Life Sciences, Kyoto Sangyo University, Kyoto, Japan.
Institute for Protein Dynamics, Kyoto Sangyo University, Kyoto, Japan
J Cell Biol. 2019 Mar 4;218(3):949-960. doi: 10.1083/jcb.201712120. Epub 2019 Jan 31.
Mysterin, also known as RNF213, is an intracellular protein that forms large toroidal oligomers. Mysterin was originally identified in genetic studies of moyamoya disease (MMD), a rare cerebrovascular disorder of unknown etiology. While mysterin is known to exert ubiquitin ligase and putative mechanical ATPase activities with a RING finger domain and two adjacent AAA+ modules, its biological role is poorly understood. Here, we report that mysterin is targeted to lipid droplets (LDs), ubiquitous organelles specialized for neutral lipid storage, and markedly increases their abundance in cells. This effect was exerted primarily through specific elimination of adipose triglyceride lipase (ATGL) from LDs. The ubiquitin ligase and ATPase activities of mysterin were both important for its proper LD targeting. Notably, MMD-related mutations in the ubiquitin ligase domain of mysterin significantly impaired its fat-stabilizing activity. Our findings identify a unique new regulator of cytoplasmic LDs and suggest a potential link between the pathogenesis of MMD and fat metabolism.
神秘蛋白(Mysterin),又名 RNF213,是一种形成大型环状寡聚物的细胞内蛋白。神秘蛋白最初是在烟雾病(MMD)的遗传研究中被发现的,MMD 是一种病因不明的罕见脑血管疾病。尽管神秘蛋白具有 RING 指结构域和两个相邻的 AAA+结构域,已知其具有泛素连接酶和潜在的机械 ATP 酶活性,但它的生物学功能尚不清楚。在这里,我们报告神秘蛋白定位于脂滴(LDs),这是一种专门用于储存中性脂肪的普遍细胞器,并显著增加细胞内 LD 的丰度。这种作用主要是通过特异性地从 LD 上去除脂肪甘油三酯酶(ATGL)来实现的。神秘蛋白的泛素连接酶和 ATP 酶活性对于其正确的 LD 靶向都很重要。值得注意的是,神秘蛋白泛素连接酶结构域中的 MMD 相关突变显著削弱了其稳定脂肪的活性。我们的研究结果确定了细胞质 LD 的一个独特的新调节因子,并提示 MMD 的发病机制与脂肪代谢之间可能存在潜在联系。