AIPL1: A specialized chaperone for the phototransduction effector

Cell Signal. 2017 Dec;40:183-189. doi: 10.1016/j.cellsig.2017.09.014. Epub 2017 Sep 20.

Abstract

Molecular chaperones play pivotal roles in protein folding, quality control, assembly of multimeric protein complexes, protein trafficking, stress responses, and other essential cellular processes. Retinal photoreceptor rod and cone cells have an unusually high demand for production, quality control, and trafficking of key phototransduction components, and thus, require a robust and specialized chaperone machinery to ensure the fidelity of sensing and transmission of visual signals. Misfolding and/or mistrafficking of photoreceptor proteins are known causes for debilitating blinding diseases. Phosphodiesterase 6, the effector enzyme of the phototransduction cascade, relies on a unique chaperone aryl hydrocarbon receptor (AhR)-interacting protein-like 1 (AIPL1) for its stability and function. The structure of AIPL1 and its relationship with the client remained obscure until recently. This review summarizes important recent advances in understanding the mechanisms underlying normal function of AIPL1 and the protein perturbations caused by pathogenic mutations.

Keywords: AIPL1; FKBP domain; Molecular chaperone; Phosphodiesterase 6; Photoreceptor; Retina.

Publication types

  • Review

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins / chemistry
  • Carrier Proteins / genetics*
  • Cyclic Nucleotide Phosphodiesterases, Type 6 / chemistry
  • Cyclic Nucleotide Phosphodiesterases, Type 6 / genetics*
  • Eye Proteins / chemistry
  • Eye Proteins / genetics*
  • Humans
  • Light Signal Transduction / genetics*
  • Molecular Chaperones / chemistry
  • Molecular Chaperones / genetics*
  • Multiprotein Complexes / genetics
  • Mutation
  • Photoreceptor Cells, Vertebrate / metabolism
  • Protein Folding
  • Retinal Cone Photoreceptor Cells / metabolism
  • Retinal Cone Photoreceptor Cells / pathology
  • Retinal Rod Photoreceptor Cells / metabolism
  • Retinal Rod Photoreceptor Cells / pathology
  • Signal Transduction / genetics

Substances

  • AIPL1 protein, human
  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins
  • Eye Proteins
  • Molecular Chaperones
  • Multiprotein Complexes
  • Cyclic Nucleotide Phosphodiesterases, Type 6