Gene
cacna1sa
- ID
- ZDB-GENE-090514-1
- Name
- calcium channel, voltage-dependent, L type, alpha 1S subunit, a
- Symbol
- cacna1sa Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to enable calcium ion binding activity and voltage-gated calcium channel activity. Predicted to act upstream of or within calcium ion transmembrane transport. Predicted to be located in membrane. Predicted to be part of voltage-gated calcium channel complex. Is expressed in atrium; cardiac ventricle; and somite. Human ortholog(s) of this gene implicated in congenital myopathy 18; hypokalemic periodic paralysis; and malignant hyperthermia. Orthologous to human CACNA1S (calcium voltage-gated channel subunit alpha1 S).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital myopathy 18 | Alliance | Congenital myopathy 18 due to dihydropyridine receptor defect | 620246 |
| hypokalemic periodic paralysis | Alliance | Hypokalemic periodic paralysis, type 1 | 170400 |
| {Malignant hyperthermia susceptibility 5} | 601887 | ||
| {Thyrotoxic periodic paralysis, susceptibility to, 1} | 188580 |
1 - 4 of 4
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR002048 | EF-hand domain |
| Domain | IPR005821 | Ion transport domain |
| Domain | IPR014873 | Voltage-dependent calcium channel, alpha-1 subunit, IQ domain |
| Domain | IPR031649 | Voltage-dependent L-type calcium channel, IQ-associated domain |
| Domain | IPR031688 | Voltage-gated calcium channel subunit alpha, C-terminal |
1 - 5 of 10 Show all
Domain Details Per Protein
| Protein | Additional Resources | Length | EF-hand domain | Ion transport domain | Voltage-dependent calcium channel alpha-1 subunit | Voltage-dependent calcium channel, alpha-1 subunit | Voltage-dependent calcium channel, alpha-1 subunit, IQ domain | Voltage-dependent calcium channel, L-type, alpha-1S subunit | Voltage-dependent calcium channel, L-type, alpha-1 subunit | Voltage-dependent channel domain superfamily | Voltage-dependent L-type calcium channel, IQ-associated domain | Voltage-gated calcium channel subunit alpha, C-terminal |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:C0LU14 | InterPro | 1777 | ||||||||||
| UniProtKB:A0A8M2BFL7 | InterPro | 1778 |
1 - 2 of 2
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cacna1sa-201
(1)
|
Ensembl | 5,650 nt |
1 - 1 of 1
Interactions and Pathways
No data available
Plasmids
No data available