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 enable high voltage-gated calcium channel activity. Predicted to be involved in calcium ion import across plasma membrane and chemical synaptic transmission. 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. Predicted to be active in neuronal cell body. Is expressed in heart and nervous system. Used to study absence epilepsy. 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
- 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