Aliases for JPH1 Gene
External Ids for JPH1 Gene
Previous GeneCards Identifiers for JPH1 Gene
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]
GeneCards Summary for JPH1 Gene
JPH1 (Junctophilin 1) is a Protein Coding gene. Diseases associated with JPH1 include entropion and polyposis, juvenile intestinal. GO annotations related to this gene include structural constituent of muscle. An important paralog of this gene is JPH3.
UniProtKB/Swiss-Prot for JPH1 Gene
Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH1 contributes to the construction of the skeletal muscle triad by linking the t-tubule (transverse-tubule) and SR (sarcoplasmic reticulum) membranes