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Article

Differential clathrin binding and subcellular localization of OCRL1 splice isoforms.

The Journal of biological chemistry - 10 Apr 2009

Choudhury Rawshan, Noakes Christopher J, McKenzie Edward, Kox Corinne, Lowe Martin

Abstract excerpt

Mutation of the inositol polyphosphate 5-phosphatase OCRL1 causes the X-linked disorder oculocerebrorenal syndrome of Lowe, characterized by defects in the brain, kidneys, and eyes. OCRL1 exists as two splice isoforms that differ by a single exon encoding 8 amino acids. The longer protein, termed isoform a, is the only form in brain, whereas both isoforms are present in all other tissues. The significance of...

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Identifiers

PMID: 19211563
DOI: 10.1074/jbc.M807442200
PMCID: PMC2665120

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Differential clathrin binding and subcellular localization of OCRL1 splice isoforms.PMID 19211563Read ↗

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Structure and function of the Lowe syndrome protein OCRL1.Semantic proximity Read ↗

The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway.Semantic proximity Read ↗

The cellular and physiological functions of the Lowe syndrome protein OCRL1.Semantic proximity Read ↗

A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism.Semantic proximity Read ↗

Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of LoweSemantic proximity Read ↗

The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.Semantic proximity Read ↗

A role for OCRL in glomerular function and disease.Semantic proximity Read ↗

Impaired neural development in a zebrafish model for Lowe syndromeSemantic proximity Read ↗

Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphataseSemantic proximity Read ↗

Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.Semantic proximity Read ↗

A novel OCRL1 mutation in a patient with the mild phenotype of Lowe syndrome.Semantic proximity Read ↗

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