Gene
cacna1ab
- ID
- ZDB-GENE-090514-3
- Name
- calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, b
- Symbol
- cacna1ab Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Enables high voltage-gated calcium channel activity. Acts upstream of or within neuromuscular synaptic transmission; swimming behavior; and thigmotaxis. Predicted to be located in membrane. Predicted to be part of voltage-gated calcium channel complex. Predicted to be active in neuronal cell body. Is expressed in Rohon-Beard neurons; atrium; cardiac ventricle; and spinal cord. Human ortholog(s) of this gene implicated in brain disease (multiple) and episodic ataxia type 2. Orthologous to human CACNA1A (calcium voltage-gated channel subunit alpha1 A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 42 | Alliance | Developmental and epileptic encephalopathy 42 | 617106 |
| episodic ataxia type 2 | Alliance | Episodic ataxia, type 2 | 108500 |
| familial hemiplegic migraine 1 | Alliance | Migraine, familial hemiplegic, 1 | 141500 |
| familial hemiplegic migraine 1 | Alliance | Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia | 141500 |
| spinocerebellar ataxia type 6 | Alliance | Spinocerebellar ataxia 6 | 183086 |
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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 |
| Family | IPR002077 | Voltage-dependent calcium channel, alpha-1 subunit |
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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 channel domain superfamily | Voltage-dependent L-type calcium channel, IQ-associated domain |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PV10 | InterPro | 2324 | |||||||
| UniProtKB:A0A8M9QD65 | InterPro | 2331 | |||||||
| UniProtKB:F8W3Z0 | InterPro | 2280 | |||||||
| UniProtKB:A0A8M9PUZ6 | InterPro | 2336 | |||||||
| UniProtKB:A0A8M9QLQ1 | InterPro | 2119 |
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- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cacna1ab-201
(1)
|
Ensembl | 829 nt | ||
| mRNA |
cacna1ab-203
(1)
|
Ensembl | 728 nt | ||
| mRNA |
cacna1ab-205
(1)
|
Ensembl | 6,843 nt | ||
| mRNA |
cacna1ab-206
(1)
|
Ensembl | 8,383 nt | ||
| ncRNA |
cacna1ab-003
(1)
|
Ensembl | 714 nt |
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Interactions and Pathways
No data available
Plasmids
No data available