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MIRAGE
calcium voltage-gated channel subunit alpha1 S
Summary
- Gene Symbol
-
- CACNA1S
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Calcium channel
- Calmodulin-binding
- Cell membrane
- Disease variant
- Disulfide bond
- Glycoprotein
- Metal-binding
- Phosphoprotein
- Proteomics identification
- Reference proteome
- Repeat
- Transmembrane helix
- Voltage-gated channel
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum organization | ||
| myoblast fusion | ||
| neuromuscular junction development | ||
| skeletal muscle adaptation | ||
| positive regulation of muscle contraction |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytoplasm | ||
| plasma membrane | ||
| voltage-gated calcium channel complex | ||
| voltage-gated calcium channel complex | ||
| sarcoplasmic reticulum |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| voltage-gated calcium channel activity | ||
| voltage-gated calcium channel activity | ||
| protein binding | ||
| calmodulin binding | ||
| high voltage-gated calcium channel activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- voltage-dependent calcium channel
- Functional Category
-
- E: Amino acid transport and metabolism
- J: Translation, ribosomal structure and biogenesis
- P: Inorganic ion transport and metabolism
- T: Signal transduction mechanisms
| InterPro |
|---|
| Ion transport domain |
| Voltage-dependent channel domain superfamily |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0081350 | congenital myopathy 18 | |
| DOID:14452 | hypokalemic periodic paralysis | |
| DOID:8545 | malignant hyperthermia |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 101688476 | MUSPF11840 | ||
| 101877980 | MELUD18089 | ||
| 101963720 | ICTTR03261 | ||
| 102009684 | CHILA01613 | ||
| 102131553 | MACFA20094 | ||
| 102176151 | CAPHI07328 | ||
| 102356715 | LATCH18769 | ||
| 103230339 | CHLSB12088 | ||
| 103269543 | CARSF00705 | ||
| 103657769 | URSMA23137 |
