Department of Medicine, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA.
Department of Cell Systems & Anatomy, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA.
Hum Mol Genet. 2018 May 15;27(10):1794-1808. doi: 10.1093/hmg/ddy095.
The TMEM127 tumor suppressor gene encodes a transmembrane protein of unknown function mutated in pheochromocytomas and, rarely, in renal cancers. Tumors with inactivating TMEM127 mutations have increased mTORC1 signaling by undefined mechanisms. Here we report that TMEM127 interacts with the lysosome-anchored complex comprised of Rag GTPases, the LAMTOR pentamer (or 'ragulator') and vATPase, which controls amino acid-mediated mTORC1 activation. We found that under nutrient-rich conditions TMEM127 expression reduces mTORC1 recruitment to Rags. In addition, TMEM127 interacts with LAMTOR in an amino acid-dependent manner and decreases the LAMTOR1-vATPase association, while TMEM127-vATPase binding requires intact lysosomal acidification but is amino acid independent. Conversely, both murine and human cells lacking TMEM127 accumulate LAMTOR proteins in the lysosome. Consistent with these findings, pheochromocytomas with TMEM127 mutations have increased levels of LAMTOR proteins. These results suggest that TMEM127 interactions with ragulator and vATPase at the lysosome contribute to restrain mTORC1 signaling in response to amino acids, thus explaining the increased mTORC1 activation seen in TMEM127-deficient tumors.
TMEM127 肿瘤抑制基因编码一种未知功能的跨膜蛋白,在嗜铬细胞瘤中发生突变,在肾癌中很少发生突变。具有失活 TMEM127 突变的肿瘤通过未知机制增加了 mTORC1 信号。在这里,我们报告 TMEM127 与由 Rag GTPases、LAMTOR 五聚体(或“ragulator”)和 vATPase 组成的溶酶体锚定复合物相互作用,该复合物控制氨基酸介导的 mTORC1 激活。我们发现,在营养丰富的条件下,TMEM127 的表达减少了 Rags 对 mTORC1 的募集。此外,TMEM127 以氨基酸依赖的方式与 LAMTOR 相互作用,并降低了 LAMTOR1-vATPase 结合,而 TMEM127-vATPase 结合需要完整的溶酶体酸化,但不依赖于氨基酸。相反,缺乏 TMEM127 的小鼠和人类细胞在溶酶体中积累了更多的 LAMTOR 蛋白。与这些发现一致的是,具有 TMEM127 突变的嗜铬细胞瘤中 LAMTOR 蛋白水平升高。这些结果表明,TMEM127 与 ragulator 和 vATPase 在溶酶体中的相互作用有助于抑制氨基酸对 mTORC1 信号的激活,从而解释了在 TMEM127 缺陷肿瘤中观察到的 mTORC1 激活增加。