| Gene Symbol |
JPH3
|
| Entrez Gene |
57338
|
| Alt Symbol |
CAGL237, HDL2, JP-3, JP3, TNRC22
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
junctophilin 3
|
| Other Description |
junctophilin type 3|junctophilin-3|trinucleotide repeat containing 22
|
| Swissprots |
Q8N471 Q9HDC4 D3DUN2 Q9HDC3 Q8WXH2
|
| Accessions |
AAL40941 BAB11987 EAW95386 EAW95387 Q8WXH2 AA813196 AB042636 BAB11983 AB593088 BAJ84028 AI299726 AK055486 BAG51525 AK126663 AK295518 BAG58433 AK297215 BAG59698 AW954561 BC008690 AAH08690 BC036533 AAH36533 BG205692 BI553267 BQ014355 DQ893569 ABM84495 DQ894420 ABM85346 XM_006721237 XP_006721300 NM_001271604 NP_001258533 NM_001271605 NP_001258534 NM_020655 NP_065706 NR_073379
|
| 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. JPH3 is brain- specific and appears to have an active role in certain neurons involved in motor coordination and memory.
|
| Subcellular Location |
Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Endoplasmic 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 reticulum membrane, while the N-terminal part associates with the plasma membrane (By similarity). {ECO:0000250}.
|
| Tissue Specificity |
Specifically expressed in brain. {ECO:0000269|PubMed:10891348}.
|
![Western Blot: JPH3 Overexpression Lysate (Adult Normal) [NBP2-04380] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for JPH3.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_2/3977_JPH3%2520Overexpression%2520Lysate%2520(Adult%2520Normal)-Western%2520Blot-NBP2-04380-img0001.jpg)