Gene
cacna1ia
- ID
- ZDB-GENE-060503-324
- Name
- calcium voltage-gated channel subunit alpha1 Ia
- Symbol
- cacna1ia Nomenclature History
- Previous Names
-
- cacna1i
- si:ch211-51h13.1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable low voltage-gated calcium channel activity and voltage-gated sodium channel activity. Predicted to be involved in several processes, including metal ion transport; neuronal action potential; and positive regulation of calcium ion-dependent exocytosis. Predicted to act upstream of or within calcium ion transmembrane transport and flagellated sperm motility. Predicted to be located in plasma membrane. Predicted to be part of voltage-gated sodium channel complex. Predicted to be active in neuron projection. Is expressed in atrium and cardiac ventricle. Human ortholog(s) of this gene implicated in schizophrenia. Orthologous to human CACNA1I (calcium voltage-gated channel subunit alpha1 I).
- 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
- All Phenotype Data
- 1 Figure from Thyme et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Neurodevelopmental disorder with speech impairment and with or without seizures | 620114 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Ion transport domain | Voltage-dependent calcium channel, T-type, alpha-1 subunit | Voltage-dependent channel domain superfamily | Voltage-gated cation channel calcium and sodium |
---|---|---|---|---|---|
UniProtKB:A0A2R8Q1A5
|
2122 | ||||
UniProtKB:A0A8M9PEP7
|
2121 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
cacna1i-202
(1)
|
Ensembl | 7,247 nt | ||
mRNA |
cacna1ia-201
(1)
|
Ensembl | 7,010 nt | ||
mRNA |
cacna1ia-203
(1)
|
Ensembl | 7,148 nt |
Interactions and Pathways
No data available
Plasmids
No data available