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junctophilin 1
Summary
- Gene Symbol
-
- JPH1
- Organism
- Homo sapiens (human)
Annotation
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| muscle organ development | ||
| regulation of ryanodine-sensitive calcium-release channel activity | ||
| calcium ion transport into cytosol |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| nucleoplasm | ||
| endoplasmic reticulum membrane | ||
| plasma membrane | ||
| junctional sarcoplasmic reticulum membrane | ||
| sarcoplasmic reticulum |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| structural constituent of muscle |
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Junctophilin
- Functional Category
-
- M: Cell wall/membrane/envelope biogenesis
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| InterPro |
|---|
| Junctophilin |
| MORN repeat |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110167 | Charcot-Marie-Tooth disease axonal type 2K |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 101326945 | TURTR07277 | ||
| 101570291 | OCTDE13906 | ||
| 101605043 | JACJA12208 | ||
| 101684943 | MUSPF09198 | ||
| 101876505 | MELUD04317 | ||
| 101947625 | CHRPI05859 | ||
| 102171440 | CAPHI04693 | ||
| 102366973 | LATCH09985 | ||
| 102432700 | MYOLU03508 | ||
| 102445351 | PELSI16976 |
