The presenilin C-terminus is required for ER-retention, nicastrin-binding and gamma-secretase activity

EMBO J. 2004 Dec 8;23(24):4738-48. doi: 10.1038/sj.emboj.7600478. Epub 2004 Nov 18.

Abstract

gamma-Secretase is an intramembrane cleaving protease involved in Alzheimer's disease. gamma-Secretase occurs as a high molecular weight complex composed of presenilin (PS1/2), nicastrin (NCT), anterior pharynx-defective phenotype 1 and PS enhancer 2. Little is known about the cellular mechanisms of gamma-secretase assembly. Here we demonstrate that the cytoplasmic tail of PS1 fulfills several functions required for complex formation, retention of unincorporated PS1 and gamma-secretase activity. The very C-terminus interacts with the transmembrane domain of NCT and may penetrate into the membrane. Deletion of the last amino acid is sufficient to completely block gamma-secretase assembly and release of PS1 from the endoplasmic reticulum (ER). This suggests that unincorporated PS1 is actively retained within the ER. We identified a hydrophobic stretch of amino acids within the cytoplasmic tail of PS1 distinct from the NCT-binding site, which is required to retain unincorporated PS1 within the ER. Deletion of the retention signal results in the release of PS1 from the ER and the assembly of a nonfunctional gamma-secretase complex, suggesting that at least a part of the retention motif may also be required for the function of PS1.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Amyloid Precursor Protein Secretases
  • Animals
  • COS Cells
  • Chlorocebus aethiops
  • Endopeptidases / metabolism*
  • Endoplasmic Reticulum / metabolism*
  • Membrane Glycoproteins / chemistry
  • Membrane Glycoproteins / metabolism*
  • Membrane Proteins / chemistry*
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism*
  • Molecular Sequence Data
  • Presenilin-1
  • Protein Binding
  • Protein Sorting Signals
  • Protein Structure, Tertiary
  • Recombinant Fusion Proteins / chemistry
  • Recombinant Fusion Proteins / genetics
  • Recombinant Fusion Proteins / metabolism
  • Sequence Alignment

Substances

  • Membrane Glycoproteins
  • Membrane Proteins
  • Presenilin-1
  • Protein Sorting Signals
  • Recombinant Fusion Proteins
  • nicastrin protein
  • Amyloid Precursor Protein Secretases
  • Endopeptidases