ArticleNature structural & molecular biology2011
Recognition of the F&H motif by the Lowe syndrome protein OCRL.
Article in Nature structural & molecular biology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 36 citations in OpenAlex.
- The power of five - inositol polyphosphate 5-phosphatase gene mutations at the intersection of development and disease.FEBS letters · 2026Review
- A combinedCell cycle (Georgetown, Tex.) · 2022Article
- SdhA blocks disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase.Cell reports · 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
- Identification and functional characterization of a hemizygous novel intronic variant in OCRL gene causes Lowe syndrome.Clinical and experimental nephrology · 2020Article
- Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development.Disease models & mechanisms · 2020Article
- Lowe syndrome-linked endocytic adaptors direct membrane cycling kinetics with OCRL inMolecular biology of the cell · 2019Article
- Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (Molecular vision · 2018Article
- Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.Scientific reports · 2017Article
- Kidney Tubular Ablation ofJournal of the American Society of Nephrology : JASN · 2017Article
- OCRL1 engages with the F-BAR protein pacsin 2 to promote biogenesis of membrane-trafficking intermediates.Molecular biology of the cell · 2016Article
- The Lowe syndrome protein OCRL1 is required for endocytosis in the zebrafish pronephric tubule.PLoS genetics · 2015Article
- A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells.eLife · 2014Article
- The cellular and physiological functions of the Lowe syndrome protein OCRL1.Traffic (Copenhagen, Denmark) · 2014Review
- The structure of the RLIP76 RhoGAP-Ral binding domain dyad: fixed position of the domains leads to dual engagement of small G proteins at the membrane.Structure (London, England : 1993) · 2013Article
- Allosteric conformational barcodes direct signaling in the cell.Structure (London, England : 1993) · 2013Review
- Phosphoinositides: tiny lipids with giant impact on cell regulation.Physiological reviews · 2013Review
- Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL.Trends in biochemical sciences · 2012Review
- OCRL controls trafficking through early endosomes via PtdIns4,5P₂-dependent regulation of endosomal actin.The EMBO journal · 2011Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Lowe syndrome and type 2 Dent disease are caused by defects in the inositol 5-phosphatase OCRL. Most missense mutations in the OCRL ASH-RhoGAP domain that are found in affected individuals abolish interactions with the endocytic adaptors APPL1 and Ses (both Ses1 and Ses2), which bind OCRL through a short phenylalanine and histidine (F&H) motif. Using X-ray crystallography, we have identified the F&H motif binding site on the RhoGAP domain of OCRL. Missense mutations associated with disease affected F&H binding indirectly by destabilizing the RhoGAP fold. By contrast, a disease-associated mutation that does not perturb F&H binding and ASH-RhoGAP stability disrupted the interaction of OCRL with Rab5. The F&H binding site of OCRL is conserved even in species that do not have an identified homolog for APPL or Ses. Our study predicts the existence of other OCRL binding partners and shows that the perturbation of OCRL interactions has a crucial role in disease.
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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.