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Nature Structural & Molecular Biology
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Recognition of the F&H motif by the Lowe syndrome protein OCRL

Authors: Pirruccello, Michelle; Swan, Laura E.; Folta-Stogniew, Ewa; De Camilli, Pietro;

Recognition of the F&H motif by the Lowe syndrome protein OCRL

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.

Keywords

Protein Folding, Binding Sites, Amino Acid Motifs, Molecular Sequence Data, Mutation, Missense, Crystallography, X-Ray, Article, Phosphoric Monoester Hydrolases, Oculocerebrorenal Syndrome, Humans, Amino Acid Sequence, Sequence Alignment, Conserved Sequence, rab5 GTP-Binding Proteins

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    influence
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    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
36
Top 10%
Top 10%
Top 10%
Green
hybrid