Mucolipin-1 is a lysosomal membrane protein required for intracellular lactosylceramide traffic

Traffic. 2006 Oct;7(10):1388-98. doi: 10.1111/j.1600-0854.2006.00475.x.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Antigens, CD / metabolism*
  • Cell Line
  • Cholesterol / metabolism
  • Endocytosis / physiology*
  • Humans
  • Lactosylceramides / metabolism*
  • Leucine / metabolism
  • Lysosomes / metabolism*
  • Lysosomes / ultrastructure
  • Molecular Sequence Data
  • Mucolipidoses / genetics
  • Mucolipidoses / metabolism
  • Mutation
  • Rats
  • Sequence Alignment
  • Signal Transduction / physiology
  • TRPM Cation Channels / genetics
  • TRPM Cation Channels / metabolism*
  • Transient Receptor Potential Channels

Substances

  • Antigens, CD
  • Lactosylceramides
  • MCOLN1 protein, human
  • TRPM Cation Channels
  • Transient Receptor Potential Channels
  • CDw17 antigen
  • Cholesterol
  • Leucine