ZFIN is now using GRCz12tu for Genomic Data
Gene
cacna1c
- ID
- ZDB-GENE-020129-1
- Name
- calcium channel, voltage-dependent, L type, alpha 1C subunit
- Symbol
- cacna1c Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Enables voltage-gated calcium channel activity. Acts upstream of or within several processes, including calcium ion transport; embryonic organ morphogenesis; and physiological cardiac muscle hypertrophy. Predicted to be located in several cellular components, including T-tubule; perikaryon; and postsynaptic density membrane. Predicted to be part of voltage-gated calcium channel complex. Is expressed in central nervous system; digestive system; lateral plate mesoderm; pericardial region; and splanchnocranium. Human ortholog(s) of this gene implicated in Brugada syndrome 3; Timothy syndrome; long QT syndrome 8; and neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures. Orthologous to human CACNA1C (calcium voltage-gated channel subunit alpha1 C).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 22 figures from 12 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Brugada syndrome 3 | Alliance | Brugada syndrome 3 | 611875 |
| long QT syndrome 8 | Alliance | Long QT syndrome 8 | 618447 |
| neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | Alliance | Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | 620029 |
| Timothy syndrome | Alliance | Timothy syndrome | 601005 |
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 | IPR005451 | Voltage-dependent calcium channel, L-type, alpha-1C subunit |
| Family | IPR050599 | Voltage-dependent calcium channel alpha-1 subunit |
| Homologous_superfamily | IPR027359 | Voltage-dependent channel domain superfamily |
Domain Details Per Protein
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cacna1c-201
(1)
|
Ensembl | 6,753 nt | ||
| mRNA |
cacna1c-202
(1)
|
Ensembl | 6,852 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers