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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 |
|---|---|---|---|
| 56704 | Xenbase:XB-GENE-954753 | ||
| 57339 | Xenbase:XB-GENE-954753 | MOUSE28089 | |
| 59091 | FB:FBgn0032129 | ||
| 84502 | FB:FBgn0032129 | ||
| 297748 | RATNO32238 | ||
| 472796 | PANTR42781 | ||
| 487001 | CANLF11729 | ||
| 536811 | BOVIN05980 | ||
| 556485 | DANRE29827 | ||
| 697014 | MACMU44319 |
