Department of Cell Biology, Harvard Medical School, 240 Longwood Avenue, Boston, MA, 2115, USA.
Howard Hughes Medical Institute, Boston, MA, USA.
Nat Commun. 2024 Oct 5;15(1):8655. doi: 10.1038/s41467-024-52901-6.
The endoplasmic reticulum (ER) is shaped by abundant membrane curvature-generating proteins that include the REEP family member REEP5. The REEP1 subfamily, consisting of four proteins in mammals (REEP1-4), is less abundant and lack a N-terminal region. Mutations in REEP1 and REEP2 cause Hereditary Spastic Paraplegia, but the function of these four REEP proteins remains enigmatic. Here we show that REEP1-4 reside in a unique vesicular compartment and identify features that determine their localization. Mutations in REEP1-4 that compromise curvature generation, including those causing disease, relocalize the proteins to the bulk ER. These mutants interact with wild-type proteins to retain them in the ER, consistent with their autosomal-dominant disease inheritance. REEP1 vesicles contain the membrane fusogen atlastin-1, but not general ER proteins. We propose that REEP1-4 generate these vesicles themselves by budding from the ER, and that they cycle back to the ER by atlastin-mediated fusion. The vesicles may serve to regulate ER tubule dynamics.
内质网(ER)的形状由丰富的膜曲率生成蛋白决定,其中包括 REEP 家族成员 REEP5。REEP1 亚家族由哺乳动物中的四种蛋白质组成(REEP1-4),其丰度较低且缺乏 N 端区域。REEP1 和 REEP2 的突变会导致遗传性痉挛性截瘫,但这四种 REEP 蛋白的功能仍然是个谜。在这里,我们表明 REEP1-4 位于独特的小泡隔室中,并确定了决定其定位的特征。包括引起疾病的那些,破坏曲率生成的 REEP1-4 突变会使这些蛋白重新定位到粗面内质网。这些突变体与野生型蛋白相互作用,将其保留在 ER 中,这与它们的常染色体显性遗传疾病遗传一致。REEP1 小泡含有膜融合蛋白 atlastin-1,但不含有一般的 ER 蛋白。我们提出 REEP1-4 通过从 ER 出芽自身产生这些小泡,并且它们通过 atlastin 介导的融合返回到 ER。这些小泡可能用于调节 ER 小管动力学。