The TRPP subfamily and polycystin-1 proteins

Handb Exp Pharmacol. 2014:222:675-711. doi: 10.1007/978-3-642-54215-2_27.

Abstract

It has been exciting times since the identification of polycystic kidney disease 1 (PKD1) and PKD2 as the genes mutated in autosomal dominant polycystic kidney disease (ADPKD). Biological roles of the encoded proteins polycystin-1 and TRPP2 have been deduced from phenotypes in ADPKD patients, but recent insights from vertebrate and invertebrate model organisms have significantly expanded our understanding of the physiological functions of these proteins. The identification of additional TRPP (TRPP3 and TRPP5) and polycystin-1-like proteins (PKD1L1, PKD1L2, PKD1L3, and PKDREJ) has added yet another layer of complexity to these fascinating cellular signalling units. TRPP proteins assemble with polycystin-1 family members to form receptor-channel complexes. These protein modules have important biological roles ranging from tubular morphogenesis to determination of left-right asymmetry. The founding members of the polycystin family, TRPP2 and polycystin-1, are a prime example of how studying human disease genes can provide insights into fundamental biological mechanisms using a so-called "reverse translational" approach (from bedside to bench). Here, we discuss the current literature on TRPP ion channels and polycystin-1 family proteins including expression, structure, physical interactions, physiology, and lessons from animal model systems and human disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Membrane Permeability
  • Gene Expression Regulation
  • Genetic Predisposition to Disease
  • Humans
  • Ion Channel Gating
  • Membrane Potentials
  • Mice
  • Mice, Knockout
  • Phenotype
  • Protein Conformation
  • Signal Transduction
  • Structure-Activity Relationship
  • TRPP Cation Channels / chemistry
  • TRPP Cation Channels / deficiency
  • TRPP Cation Channels / genetics
  • TRPP Cation Channels / metabolism*

Substances

  • TRPP Cation Channels
  • polycystic kidney disease 1 protein