| Gene Information | |
|---|---|
| Gene Name | JP1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 661 |
| Protein Names | Junctophilin-1 (JP-1) (Junctophilin type 1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q9HDC5 |
| Gene Card | JPH1 |
| Uniprot ID | Q9HDC5 |
| Pfam | PF02493 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Abundantly expressed in skeletal muscle. Very low levels in heart. {ECO:0000269|PubMed:10891348}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 7RW4 (X-ray 1.31A ) |
| DBSNP | rs16938829 rs16938828 |
| Subcellular location [CC] | 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}. |
| Mouse PG classification | NA |
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