Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, Rhode Island, USA; Center for Translational Neuroscience, Brown University, Providence, Rhode Island, USA.
Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, Rhode Island, USA; Center for Translational Neuroscience, Brown University, Providence, Rhode Island, USA.
J Biol Chem. 2024 Aug;300(8):107552. doi: 10.1016/j.jbc.2024.107552. Epub 2024 Jul 11.
Mutations in the endosomal Na+/H+ exchanger 6 (NHE6) cause Christianson syndrome, an X-linked neurological disorder. NHE6 functions in regulation of endosome acidification and maturation in neurons. Using yeast two-hybrid screening with the NHE6 carboxyl terminus as bait, we identify Golgi-associated, gamma adaptin ear-containing, ADP-ribosylation factor (ARF) binding protein 1 (GGA1) as an interacting partner for NHE6. We corroborated the NHE6-GGA1 interaction using: coimmunoprecipitation; overexpressed constructs in mammalian cells; and coimmunoprecipitation of endogenously expressed GGA1 and NHE6 from neuroblastoma cells, as well as from the mouse brain. We demonstrate that GGA1 interacts with organellar NHEs (NHE6, NHE7, and NHE9) and that there is significantly less interaction with cell-surface localized NHEs (NHE1 and NHE5). By constructing hybrid NHE1/NHE6 exchangers, we demonstrate the cytoplasmic tail of NHE6 interacts most strongly with GGA1. We demonstrate the colocalization of NHE6 and GGA1 in cultured, primary hippocampal neurons, using super-resolution microscopy. We test the hypothesis that the interaction of NHE6 and GGA1 functions in the localization of NHE6 to the endosome compartment. Using subcellular fractionation experiments, we show that NHE6 is mislocalized in GGA1 KO cells, wherein we find less NHE6 in endosomes, but more NHE6 transport to lysosomes, and more Golgi retention of NHE6, with increased exocytosis to the surface plasma membrane. Consistent with NHE6 mislocalization, and Golgi retention, we find the intraluminal pH in Golgi to be alkalinized in GGA1-null cells. Our study demonstrates a new interaction between NHE6 and GGA1 which functions in the localization of this intracellular NHE to the endosome compartment.
内体 Na+/H+ 交换蛋白 6 (NHE6) 的突变导致克里斯蒂安森综合征,这是一种 X 连锁的神经疾病。NHE6 在神经元内体酸化和成熟的调节中发挥作用。我们使用 NHE6 羧基末端作为诱饵的酵母双杂交筛选,鉴定出与高尔基体相关的、含有γ衔接蛋白耳的、ADP-核糖基化因子 (ARF) 结合蛋白 1 (GGA1) 是 NHE6 的相互作用伙伴。我们使用以下方法证实了 NHE6-GGA1 相互作用的存在:免疫共沉淀;哺乳动物细胞中过表达的构建体;以及从神经母细胞瘤细胞和小鼠脑中内源性表达的 GGA1 和 NHE6 的免疫共沉淀。我们证明 GGA1 与细胞器 NHEs(NHE6、NHE7 和 NHE9)相互作用,与细胞表面定位的 NHEs(NHE1 和 NHE5)相互作用显著减少。通过构建杂交 NHE1/NHE6 交换体,我们证明 NHE6 的细胞质尾巴与 GGA1 相互作用最强。我们使用超分辨率显微镜在培养的原代海马神经元中证明了 NHE6 和 GGA1 的共定位。我们通过亚细胞分级分离实验测试了 NHE6 和 GGA1 的相互作用是否有助于 NHE6 在内体区室中的定位的假说。我们发现,在 GGA1 KO 细胞中,NHE6 发生了错误定位,在内体中 NHE6 减少,但更多的 NHE6 转运到溶酶体,更多的 NHE6 保留在高尔基体内,同时更多的 NHE6 发生胞吐作用到质膜表面。与 NHE6 错误定位和高尔基体内保留一致,我们发现 GGA1 缺失细胞的高尔基体内腔内的 pH 值碱化。我们的研究表明,NHE6 和 GGA1 之间存在新的相互作用,这种相互作用有助于这种细胞内 NHE 向内体区室的定位。