ArticleThe EMBO journal2011
A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1.
Article in The EMBO journal, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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Who cites it
54 citing papers in PubMed, 98 citations in OpenAlex.
- The C9orf72/SMCR8 complex maintains microglial homeostasis via RAB8A-ESCRT-mediated lysosomal repair.The EMBO journal · 2026Article
- A novel RAB5 binding site in human VPS34-CII that is likely the primordial site in eukaryotic evolution.eLife · 2026Article
- Dysregulation of Inositol Polyphosphate 5-Phosphatase OCRL in Alzheimer's Disease: Implications for Autophagy Dysfunction.International journal of molecular sciences · 2025Article
- Phenotype and genotype analyses of 21 Chinese patients with Dent disease.Journal of biomedical research · 2025Article
- Moderate levels of folic acid benefit outcomes for cilia based neural tube defects.Developmental biology · 2025Article
- A tale of Rabs and the exocyst complex in ciliary trafficking and biogenesis.Frontiers in cell and developmental biology · 2025Review
- Phosphoinositides in New Spaces.Cold Spring Harbor perspectives in biology · 2023Review
- The Role of Primary Cilia-Associated Phosphoinositide Signaling in Development.Journal of developmental biology · 2022Review
- The inositol 5-phosphatase INPP5B regulates B cell receptor clustering and signaling.The Journal of cell biology · 2022Article
- A combinedCell cycle (Georgetown, Tex.) · 2022Article
- Rep15 interacts with several Rab GTPases and has a distinct fold for a Rab effector.Nature communications · 2022Article
- Stabilization of the RAS:PDE6D Complex Is a Novel Strategy to Inhibit RAS Signaling.Journal of medicinal chemistry · 2022Article
- A 3D Renal Proximal Tubule on Chip Model Phenocopies Lowe Syndrome and Dent II Disease Tubulopathy.International journal of molecular sciences · 2021Article
- Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes.Human molecular genetics · 2021Article
- Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome.Intractable & rare diseases research · 2020Article
- Structural Basis for Rab8a Recruitment of RILPL2 via LRRK2 Phosphorylation of Switch 2.Structure (London, England : 1993) · 2020Article
- Tumor protein D54 defines a new class of intracellular transport vesicles.The Journal of cell biology · 2020Article
- Lowe syndrome-linked endocytic adaptors direct membrane cycling kinetics with OCRL inMolecular biology of the cell · 2019Article
- Rab8a localisation and activation by Toll-like receptors on macrophage macropinosomes.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2019Article
- Multivalency in Rab effector interactions.Small GTPases · 2019Review
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The oculocerebrorenal syndrome of Lowe (OCRL), also called Lowe syndrome, is characterized by defects of the nervous system, the eye and the kidney. Lowe syndrome is a monogenetic X-linked disease caused by mutations of the inositol-5-phosphatase OCRL1. OCRL1 is a membrane-bound protein recruited to membranes via interaction with a variety of Rab proteins. The structural and kinetic basis of OCRL1 for the recognition of several Rab proteins is unknown. In this study, we report the crystal structure of the Rab-binding domain (RBD) of OCRL1 in complex with Rab8a and the kinetic binding analysis of OCRL1 with several Rab GTPases (Rab1b, Rab5a, Rab6a and Rab8a). In contrast to other effectors that bind their respective Rab predominantly via α-helical structure elements, the Rab-binding interface of OCRL1 consists mainly of the IgG-like β-strand structure of the ASPM-SPD-2-Hydin domain as well as one α-helix. Our results give a deeper structural understanding of disease-causing mutations of OCRL1 affecting Rab binding.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.