Gene
cacna1aa
- ID
- ZDB-GENE-040724-26
- Name
- calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, a
- Symbol
- cacna1aa Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to have voltage-gated calcium channel activity. Predicted to be involved in calcium ion import and chemical synaptic transmission. Predicted to localize to voltage-gated calcium channel complex. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 42; hereditary ataxia (multiple); and migraine (multiple). Is expressed in heart and nervous system. Orthologous to human CACNA1A (calcium voltage-gated channel subunit alpha1 A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu1553 (11 images)
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Gawel et al., 2019
- Cross-Species Comparison
- Alliance
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 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| absence epilepsy | AB + MO1-cacna1aa + MO2-cacna1aa | standard conditions | Gawel et al., 2019 |
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 |
| Family | IPR002077 | Voltage-dependent calcium channel, alpha-1 subunit |
| Family | IPR050599 | Voltage-dependent calcium channel alpha-1 subunit |
| Homologous_superfamily | IPR027359 | Voltage-dependent channel domain superfamily |
Domain Details Per Protein
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cacna1aa-201
(1)
|
Ensembl | 6,798 nt | ||
| mRNA |
cacna1aa-202
(1)
|
Ensembl | 5,851 nt | ||
| mRNA |
cacna1aa-203
(1)
|
Ensembl | 5,848 nt |
Interactions and Pathways
No data available
Plasmids
No data available