两个密切相关的内吞蛋白,它们与 APPL1 共享一个共同的 OCRL 结合基序。

Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1.

机构信息

Department of Cell Biology, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT, USA.

出版信息

Proc Natl Acad Sci U S A. 2010 Feb 23;107(8):3511-6. doi: 10.1073/pnas.0914658107. Epub 2010 Feb 2.

Abstract

Mutations of the inositol 5' phosphatase oculocerebrorenal syndrome of Lowe (OCRL) give rise to the congenital X-linked disorders oculocerebrorenal syndrome of Lowe and Dent disease, two conditions giving rise to abnormal kidney proximal tubule reabsorption, and additional nervous system and ocular defects in the case of Lowe syndrome. Here, we identify two closely related endocytic proteins, Ses1 and Ses2, which interact with the ASH-RhoGAP-like (ASPM-SPD-2-Hydin homology and Rho-GTPase Activating Domain-like) domain of OCRL. The interaction is mediated by a short amino acid motif similar to that used by the rab-5 effector APPL1 (Adaptor Protein containing pleckstrin homology [PH] domain, PTB domain and Leucine zipper motif 1) APPL1 for OCRL binding. Ses binding is mutually exclusive with APPL1 binding, and is disrupted by the same missense mutations in the ASH-RhoGAP-like domain that also disrupt APPL1 binding. Like APPL1, Ses1 and -2 are localized on endosomes but reside on different endosomal subpopulations. These findings define a consensus motif (which we have called a phenylalanine and histidine [F&H] motif) for OCRL binding and are consistent with a scenario in which Lowe syndrome and Dent disease result from perturbations at multiple sites within the endocytic pathway.

摘要

肌醇 5' 磷酸酶眼-脑-肾综合征 Lowe(OCRL)的突变导致先天性 X 连锁眼-脑-肾综合征 Lowe 和 Dent 病,这两种疾病导致肾脏近端小管重吸收异常,以及 Lowe 综合征的神经系统和眼部缺陷。在这里,我们鉴定了两种密切相关的内吞蛋白 Ses1 和 Ses2,它们与 OCRL 的 ASH-RhoGAP 样(ASPM-SPD-2-Hydin 同源和 Rho-GTPase 激活结构域样)结构域相互作用。这种相互作用是由一个短的氨基酸基序介导的,类似于 rab-5 效应物 APPL1(含pleckstrin 同源 [PH]结构域、PTB 结构域和亮氨酸拉链模体 1 的衔接蛋白)与 OCRL 结合所使用的基序。Ses 结合与 APPL1 结合相互排斥,并且由 ASH-RhoGAP 样结构域中的相同错义突变破坏,该突变也破坏了 APPL1 结合。与 APPL1 一样,Ses1 和 -2 定位于内体上,但位于不同的内体亚群上。这些发现定义了一个用于 OCRL 结合的共有基序(我们称之为苯丙氨酸和组氨酸 [F&H]基序),并与内吞途径多个位点扰动导致 Lowe 综合征和 Dent 病的情况一致。

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