Junctophilins: a novel family of junctional membrane complex proteins

Mol Cell. 2000 Jul;6(1):11-22. doi: 10.1016/s1097-2765(00)00003-4.

Abstract

Junctional complexes between the plasma membrane (PM) and endoplasmic/sarcoplasmic reticulum (ER/ SR) are a common feature of all excitable cell types and mediate cross-talk between cell surface and intracellular ion channels. We have identified the junctophilins (JPs), a novel conserved family of proteins that are components of the junctional complexes. JPs are composed of a carboxy-terminal hydrophobic segment spanning the ER/SR membrane and a remaining cytoplasmic domain that shows specific affinity for the PM. In mouse, there are at least three JP subtypes: JP-1, -2, and -3. JP-2 is abundantly expressed in the heart, and mutant mice lacking JP-2 exhibited embryonic lethality. Cardiac myocytes from the mutant mice showed deficiency of the junctional membrane complexes and abnormal Ca2+ transients. Our results suggest that JPs are important components of junctional membrane complexes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Motifs
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Calcium Signaling
  • Cell Membrane / metabolism
  • DNA Primers / genetics
  • Endoplasmic Reticulum / metabolism
  • Male
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism*
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Molecular Sequence Data
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / ultrastructure
  • Myocardium / metabolism
  • Myocardium / ultrastructure
  • Rabbits
  • Sarcoplasmic Reticulum / metabolism
  • Sequence Homology, Amino Acid
  • Tissue Distribution

Substances

  • DNA Primers
  • Membrane Proteins
  • junctophilin

Associated data

  • GENBANK/AB023447
  • GENBANK/AB024445
  • GENBANK/AB024447
  • GENBANK/AB024448
  • GENBANK/AB024449