Gene
cacna1sb
- ID
- ZDB-GENE-051227-1
- Name
- calcium channel, voltage-dependent, L type, alpha 1S subunit, b
- Symbol
- cacna1sb Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have high voltage-gated calcium channel activity. Predicted to be involved in calcium ion import. Predicted to localize to voltage-gated calcium channel complex. Human ortholog(s) of this gene implicated in hypokalemic periodic paralysis and malignant hyperthermia. Is expressed in atrium and cardiac ventricle. Orthologous to human CACNA1S (calcium voltage-gated channel subunit alpha1 S).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 1 figure from Haverinen et al., 2018
- 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 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
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 |
Family | IPR002077 | Voltage-dependent calcium channel, alpha-1 subunit |
Family | IPR005446 | Voltage-dependent calcium channel, L-type, alpha-1 subunit |
Family | IPR005450 | Voltage-dependent calcium channel, L-type, alpha-1S subunit |
Family | IPR050599 | Voltage-dependent calcium channel alpha-1 subunit |
Homologous_superfamily | IPR027359 | Voltage-dependent channel domain superfamily |
Domain Details Per Protein
Protein | Length | 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:Q6RKB0
|
1847 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
cacna1sb-201
(1)
|
Ensembl | 6,096 nt |
Interactions and Pathways
No data available
Plasmids
No data available