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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 |
|---|---|
| A0A804HI37 |
|
| A0A804HKC4 |
|
| F5H522 |
|
| Q13936 |
|
| E9PDI6 |
|
| A0A0A0MR67 |
|
| Q5V9X9 |
|
| Q59GU3 |
|
| A0A804HIJ8 |
|
| A0A804HJB6 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| immune system development |
|
|
| system process |
|
|
| monoatomic ion transport |
|
|
| ion transport |
|
|
| muscle contraction |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| nucleoplasm |
|
|
| cytoplasm |
|
|
| plasma membrane |
|
|
| plasma membrane |
|
|
| plasma membrane |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| ion channel activity |
|
|
| monoatomic ion channel activity |
|
|
| voltage-gated calcium channel activity |
|
|
| voltage-gated calcium channel activity |
|
|
| 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
- P: Inorganic ion transport and metabolism
- T: Signal transduction mechanisms
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110649 | long QT syndrome 8 | |
| DOID:0110220 | Brugada syndrome 3 | |
| DOID:0070536 | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | |
| DOID:0060173 | Timothy syndrome |
Ortholog
| Species | Gene ID | Alliance of Genome Resources |
|---|---|---|
| 12288 | MGI:103013 | |
| 24239 | RGD:2245 | |
| 34950 | FB:FBgn0001991 | |
| 170581 | ZFIN:ZDB-GENE-020129-1 | |
| 100462911 | Xenbase:XB-GENE-6492375 | |
| 100488055 | Xenbase:XB-GENE-991126 |
