Full name: junctophilin 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: CMT2K; JP-1; JP1

Summary: Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. [provided by RefSeq, Jul 2008]

Expression: Broad expression in brain (RPKM 3.3), lung (RPKM 3.1) and 20 other tissues

Gene size: 86841bp

Exon count: 6