JPH1, Official Symbol JPH1provided by HGNC Official Full Name junctophilin 1provided by HGNC Primary source HGNC:HGNC:14201 See related Ensembl:ENSG00000104369 MIM:605266; AllianceGenome:HGNC:14201 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as JP1; JP-1; CMT2K 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 See more Orthologs mouse all