Mucolipin‐1 Is a Lysosomal Membrane Protein Required for Intracellular Lactosylceramide Traffic

Mucolipin‐1 is a membrane protein encoded by the gene MCOLN1, mutations in which result in the lysosomal storage disorder mucolipidosis type IV (MLIV). Efficient lysosomal targeting of mucolipin‐1 requires di‐leucine motifs in both the N‐terminal and the C‐terminal cytosolic tails. We have shown tha...

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Veröffentlicht in:Traffic (Copenhagen, Denmark) Denmark), 2006-10, Vol.7 (10), p.1388-1398
Hauptverfasser: Pryor, Paul R., Reimann, Frank, Gribble, Fiona M., Luzio, J. Paul
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Sprache:eng
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Zusammenfassung:Mucolipin‐1 is a membrane protein encoded by the gene MCOLN1, mutations in which result in the lysosomal storage disorder mucolipidosis type IV (MLIV). Efficient lysosomal targeting of mucolipin‐1 requires di‐leucine motifs in both the N‐terminal and the C‐terminal cytosolic tails. We have shown that aberrant lactosylceramide trafficking in MLIV cells may be rescued by wild‐type mucolipin‐1 expression but not by mucolipin‐1 mistargeted to the plasma membrane or by lysosome‐localized mucolipin‐1 mutated in its predicted ion pore‐selectivity region. Our data demonstrate that the correct localization of mucolipin‐1 and the integrity of its ion pore are essential for its physiological function in the late endocytic pathway.
ISSN:1398-9219
1600-0854
DOI:10.1111/j.1600-0854.2006.00475.x