JPH1

JPH1
Identifiers
AliasesJPH1, JP-1, JP1, CMT2K, junctophilin 1
External IDsOMIM: 605266; MGI: 1891495; HomoloGene: 10761; GeneCards: JPH1; OMA:JPH1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

56704

57339

Ensembl

ENSG00000104369

ENSMUSG00000042686

UniProt

Q9HDC5
Q86VR1

Q9ET80

RefSeq (mRNA)

NM_020647
NM_001317830
NM_001363050
NM_001363051

NM_020604

RefSeq (protein)

NP_001304759
NP_065698
NP_001349979
NP_001349980
NP_065698.1

NP_065629

Location (UCSC)Chr 8: 74.23 – 74.32 MbChr 1: 17.03 – 17.17 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Junctophilin-1 is a protein that in humans is encoded by the 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.