POPDC proteins and cardiac function

Biochem Soc Trans. 2019 Oct 31;47(5):1393-1404. doi: 10.1042/BST20190249.

Abstract

The Popeye domain-containing gene family encodes a novel class of cAMP effector proteins in striated muscle tissue. In this short review, we first introduce the protein family and discuss their structure and function with an emphasis on their role in cyclic AMP signalling. Another focus of this review is the recently discovered role of POPDC genes as striated muscle disease genes, which have been associated with cardiac arrhythmia and muscular dystrophy. The pathological phenotypes observed in patients will be compared with phenotypes present in null and knockin mutations in zebrafish and mouse. A number of protein-protein interaction partners have been discovered and the potential role of POPDC proteins to control the subcellular localization and function of these interacting proteins will be discussed. Finally, we outline several areas, where research is urgently needed.

Keywords: Popeye domain-containing; cardiac arrhythmia; cyclic nucleotide; intracellular signaling; muscular dystrophy; protein–protein interaction.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Arrhythmias, Cardiac / genetics
  • Cyclic AMP / metabolism
  • Humans
  • Loss of Function Mutation
  • Mice
  • Muscle Proteins / genetics
  • Muscle Proteins / metabolism*
  • Muscular Dystrophies / genetics
  • Protein Binding
  • Signal Transduction
  • Zebrafish

Substances

  • Muscle Proteins
  • Cyclic AMP