LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase

Cell. 2007 Nov 16;131(4):770-83. doi: 10.1016/j.cell.2007.10.018.

Abstract

beta-glucocerebrosidase, the enzyme defective in Gaucher disease, is targeted to the lysosome independently of the mannose-6-phosphate receptor. Affinity-chromatography experiments revealed that the lysosomal integral membrane protein LIMP-2 is a specific binding partner of beta-glucocerebrosidase. This interaction involves a coiled-coil domain within the lumenal domain. beta-glucocerebrosidase activity and protein levels were severely decreased in LIMP-2-deficient mouse tissues. Analysis of fibroblasts and macrophages isolated from these mice indicated that the majority of beta-glucocerebrosidase was secreted. Missorting of beta-glucocerebrosidase was also evident in vivo, as protein and activity levels were significantly higher in sera from LIMP-2-deficient mice compared to wild-type. Reconstitution of LIMP-2 in LIMP-2-deficient fibroblasts led to a rescue of beta-glucocerebrosidase levels and distribution. LIMP-2 expression also led to lysosomal transport of a beta-glucocerebrosidase endoplasmic reticulum retention mutant. These data support a role for LIMP-2 as the mannose-6-phosphate-independent trafficking receptor for beta-glucocerebrosidase.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • CD36 Antigens / genetics
  • CD36 Antigens / metabolism*
  • Cell Line
  • Endoplasmic Reticulum / metabolism
  • Fibroblasts / cytology
  • Fibroblasts / metabolism
  • Gaucher Disease / metabolism*
  • Glucosylceramidase / genetics
  • Glucosylceramidase / metabolism*
  • Humans
  • Lysosomal Membrane Proteins / genetics
  • Lysosomal Membrane Proteins / metabolism*
  • Lysosomes / metabolism*
  • Macrophages / cytology
  • Macrophages / metabolism
  • Mannosephosphates / genetics
  • Mannosephosphates / metabolism*
  • Mice
  • Molecular Sequence Data
  • Protein Binding
  • Protein Structure, Secondary
  • Protein Transport*
  • Recombinant Proteins / genetics
  • Recombinant Proteins / metabolism
  • Sequence Alignment

Substances

  • CD36 Antigens
  • Lysosomal Membrane Proteins
  • Mannosephosphates
  • Recombinant Proteins
  • Scarb2 protein, mouse
  • mannose-6-phosphate
  • Glucosylceramidase