Mucolipin-1 is a 65-kDa membrane protein encoded by the MCOLN1 gene, which is mutated in patients with mucolipidosis type IV (MLIV), a rare neurodegenerative lyso- somal storage disorder. We studied the subcellular localization of wild-type and three different mutant forms (T232P, F408del and F465L) of mucolipin by expressing Myc-tagged proteins in HeLa cells. The overexpressed wild-type mucolipin colocalizes to late endocytic structures and induces an aberrant distribution of these compartments. F408del and F465L MLIV mutant proteins show a distribution similar to the wild-type protein, whereas T232P is retained in the endoplasmic reticulum. Among the mutants, only F408del induces a redistribution of the late endocytic compartment. These findings suggest that the overex- pression of the mucolipin cation channel influences the dynamic equilibrium of late endocytic compartments.

Overexpression of wild type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization

MANZONI, Marta;MONTI, Eugenio;BRESCIANI, Roberto;BOZZATO, Andrea;BARLATI, Sergio;BORSANI, Giuseppe
2004-01-01

Abstract

Mucolipin-1 is a 65-kDa membrane protein encoded by the MCOLN1 gene, which is mutated in patients with mucolipidosis type IV (MLIV), a rare neurodegenerative lyso- somal storage disorder. We studied the subcellular localization of wild-type and three different mutant forms (T232P, F408del and F465L) of mucolipin by expressing Myc-tagged proteins in HeLa cells. The overexpressed wild-type mucolipin colocalizes to late endocytic structures and induces an aberrant distribution of these compartments. F408del and F465L MLIV mutant proteins show a distribution similar to the wild-type protein, whereas T232P is retained in the endoplasmic reticulum. Among the mutants, only F408del induces a redistribution of the late endocytic compartment. These findings suggest that the overex- pression of the mucolipin cation channel influences the dynamic equilibrium of late endocytic compartments.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11379/28666
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