CLN5 and CLN3 function as a complex to regulate endolysosome function

Biochem J. 2021 Jun 25;478(12):2339-2357. doi: 10.1042/BCJ20210171.

Abstract

CLN5 is a soluble endolysosomal protein whose function is poorly understood. Mutations in this protein cause a rare neurodegenerative disease, neuronal ceroid lipofuscinosis (NCL). We previously found that depletion of CLN5 leads to dysfunctional retromer, resulting in the degradation of the lysosomal sorting receptor, sortilin. However, how a soluble lysosomal protein can modulate the function of a cytosolic protein, retromer, is not known. In this work, we show that deletion of CLN5 not only results in retromer dysfunction, but also in impaired endolysosome fusion events. This results in delayed degradation of endocytic proteins and in defective autophagy. CLN5 modulates these various pathways by regulating downstream interactions between CLN3, an endolysosomal integral membrane protein whose mutations also result in NCL, RAB7A, and a subset of RAB7A effectors. Our data support a model where CLN3 and CLN5 function as an endolysosomal complex regulating various functions.

Keywords: CLN3; CLN5; RAB7A; endosomes; palmitoylation; retromer.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Adaptor Proteins, Signal Transducing / metabolism*
  • Adaptor Proteins, Vesicular Transport / genetics
  • Adaptor Proteins, Vesicular Transport / metabolism*
  • Endosomes / metabolism*
  • Gene Deletion
  • HeLa Cells
  • Humans
  • Lysosomal Membrane Proteins / genetics
  • Lysosomal Membrane Proteins / metabolism*
  • Lysosomes / metabolism*
  • Membrane Glycoproteins / genetics
  • Membrane Glycoproteins / metabolism*
  • Molecular Chaperones / genetics
  • Molecular Chaperones / metabolism*
  • Protein Interaction Domains and Motifs
  • rab GTP-Binding Proteins / genetics
  • rab GTP-Binding Proteins / metabolism*
  • rab7 GTP-Binding Proteins

Substances

  • Adaptor Proteins, Signal Transducing
  • Adaptor Proteins, Vesicular Transport
  • CLN3 protein, human
  • CLN5 protein, human
  • Lysosomal Membrane Proteins
  • Membrane Glycoproteins
  • Molecular Chaperones
  • RILP protein, human
  • rab7 GTP-Binding Proteins
  • rab GTP-Binding Proteins
  • sortilin