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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
calcium voltage-gated channel subunit alpha1 D
Summary
- Gene Symbol
-
- CACNA1D
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Calcium channel
- Deafness
- Disease variant
- Disulfide bond
- Epilepsy
- Glycoprotein
- Metal-binding
- Phosphoprotein
- Proteomics identification
- Reference proteome
- Repeat
- Transmembrane helix
- Triplet repeat expansion
- Voltage-gated channel
- Proteins
| UniProt | Protein Name |
|---|---|
| A0A1B0GUN6 |
|
| Q59GD8 |
|
| Q01668 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| sensory perception of sound | ||
| positive regulation of adenylate cyclase activity | ||
| cardiac muscle cell action potential involved in contraction | ||
| regulation of heart rate by cardiac conduction | ||
| calcium ion transmembrane transport |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| voltage-gated calcium channel complex | ||
| plasma membrane | ||
| Z disc | ||
| L-type voltage-gated calcium channel complex |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| ankyrin binding | ||
| voltage-gated calcium channel activity involved in cardiac muscle cell action potential | ||
| metal ion binding | ||
| 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:11446 | sciatic neuropathy | |
| DOID:11723 | Duchenne muscular dystrophy | |
| DOID:5419 | schizophrenia | |
| DOID:9352 | type 2 diabetes mellitus |
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 12289 | MGI:88293 | MOUSE12795 | ||
| 29716 | RGD:70973 | RATNO10814 | ||
| 34950 | FB:FBgn0001991 | |||
| 177513 | WB:WBGene00001187 | |||
| 403310 | ZFIN:ZDB-GENE-030616-135 | DANRE03334 | ||
| 403311 | ZFIN:ZDB-GENE-040525-3 | |||
| 408013 | BOVIN17669 | |||
| 460447 | 9598_0:00106d | PANTR31363 | ||
| 484724 | CANLF07414 | |||
| 693924 | MACMU28606 |
