| Gene Symbol |
JPH1
|
| Entrez Gene |
56704
|
| Alt Symbol |
JP-1, JP1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
junctophilin 1
|
| Other Description |
junctophilin type 1|junctophilin type1|junctophilin-1|mitsugumin72
|
| Swissprots |
B2RTZ0 Q9HDC5
|
| Accessions |
BAB11986 EAW87026 EAW87027 EAW87028 EAW87029 EAW87030 EAW87031 Q9HDC5 BC017980 BC049372 AAH49372 BC098299 AAH98299 BC098314 BC099736 BC113856 AAI13857 BC114464 AAI14465 BC139832 AAI39833 BC140875 AAI40876 BC140876 AAI40877 BX537756 CAD97825 CN272069 CR627477 CAH10677 XM_005251273 XP_005251330 XM_005251274 XP_005251331 XM_005251275 XP_005251332 NM_020647 NP_065698
|
| Function |
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.
|
| Subcellular Location |
Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. Sarcoplasmic reticulum membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. Note=Localized predominantly on the plasma membrane. The transmembrane domain is anchored in endoplasmic/sarcoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane. In skeletal muscle cells, it is predominantly localized at the junction of the A and I bands (By similarity). {ECO:0000250}.
|
| Tissue Specificity |
Abundantly expressed in skeletal muscle. Very low levels in heart. {ECO:0000269|PubMed:10891348}.
|