Polar transmembrane-based amino acids in presenilin 1 are involved in endoplasmic reticulum localization, Pen2 protein binding, and γ-secretase complex stabilization

J Biol Chem. 2011 Nov 4;286(44):38390-38396. doi: 10.1074/jbc.M111.252429. Epub 2011 Sep 13.

Abstract

γ-Secretase is composed of the four membrane proteins presenilin, nicastrin, Pen2, and Aph1. These four proteins assemble in a coordinated and regulated manner into a high molecular weight complex. The subunits constitute a total of 19 transmembrane domains (TMD), with many carrying important amino acids involved in catalytic activity, interaction with other subunits, or in ER retention/retrieval of unassembled subunits. We here focus on TMD4 of presenilin 1 (PS1) and show that a number of polar amino acids are critical for γ-secretase assembly and function. An asparagine, a threonine, and an aspartate form a polar interface important for endoplasmic reticulum retention/retrieval. A single asparagine in TMD4 of PS1 is involved in a protein-protein interaction by binding to another asparagine in Pen2. Intriguingly, a charged aspartate in TMD4 is critical for γ-secretase activity, most likely by stabilizing the newly formed complex.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alzheimer Disease / metabolism
  • Amino Acids / chemistry*
  • Animals
  • Asparagine / chemistry
  • Binding Sites
  • Glycosylation
  • HEK293 Cells
  • Humans
  • Mice
  • Mice, Knockout
  • Mutation
  • Presenilin-1 / chemistry
  • Presenilin-1 / metabolism*
  • Presenilin-2 / chemistry
  • Presenilin-2 / metabolism*
  • Protein Binding
  • Protein Conformation

Substances

  • Amino Acids
  • Presenilin-1
  • Presenilin-2
  • Asparagine