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MIRAGE
calcium voltage-gated channel subunit alpha1 C
Summary
- Gene Symbol
-
- CACNA1C
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Autism
- Brugada syndrome
- Calcium channel
- Calmodulin-binding
- Cell membrane
- Cell projection
- Disease variant
- Disulfide bond
- Epilepsy
- Glycoprotein
- Host-virus interaction
- Intellectual disability
- Long QT syndrome
- Metal-binding
- Phosphoprotein
- Postsynaptic cell membrane
- Proteomics identification
- Reference proteome
- Repeat
- Transmembrane helix
- Voltage-gated channel
- Proteins
| UniProt | Protein Name |
|---|---|
| Q13936 |
|
Gene Ontology (GO)
GO Hierarchy
biological process
cellular process [inference]
localization [inference]
biological regulation [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| nucleoplasm | ||
| cytoplasm | ||
| plasma membrane | ||
| plasma membrane | ||
| plasma membrane |
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:0060173 | Timothy syndrome | |
| DOID:0070536 | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | |
| DOID:0110220 | Brugada syndrome 3 | |
| DOID:0110649 | long QT syndrome 8 |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 6329 | SGD:S000003449 | ||
| 6331 | SGD:S000003449 | ||
| 6332 | SGD:S000003449 | ||
| 6334 | SGD:S000003449 | ||
| 6335 | SGD:S000003449 | ||
| 6336 | SGD:S000003449 | ||
| 8911 | SGD:S000003449 | ||
| 8913 | SGD:S000003449 | ||
| 11280 | SGD:S000003449 | ||
| 12286 | SGD:S000003449 |
