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 charcot-marie-tooth disease, type 4a and charcot-marie-tooth disease, axonal, with vocal cord paresis. 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.