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
- Description
- Exhibits voltage-gated calcium channel activity. Involved in animal organ development; calcium ion import; and regulation of heart contraction. Predicted to localize to 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 and Timothy syndrome. Orthologous to human CACNA1C (calcium voltage-gated channel subunit alpha1 C).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 9 figures from 8 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
Protein | Length | 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 calcium channel, L-type, alpha-1C subunit | Voltage-dependent calcium channel, L-type, alpha-1 subunit | Voltage-dependent channel domain superfamily | Voltage-dependent L-type calcium channel, IQ-associated domain | Voltage-gated calcium channel subunit alpha, C-terminal |
---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M9PU55
|
2183 | |||||||||
UniProtKB:A0A8M9QAX1
|
2202 | |||||||||
UniProtKB:A0A8M9PGZ0
|
2201 | |||||||||
UniProtKB:A0A8M9QAX6
|
2193 | |||||||||
UniProtKB:A0A8M9PU49
|
2186 | |||||||||
UniProtKB:A0A8M9PU44
|
2200 | |||||||||
UniProtKB:A0A8M9Q050
|
2202 | |||||||||
UniProtKB:A0A8M9Q5Q9
|
2201 | |||||||||
UniProtKB:A0A8M9Q5R3
|
2184 | |||||||||
UniProtKB:A0A8M9QAY0
|
2185 | |||||||||
UniProtKB:Q90ZA7
|
2168 | |||||||||
UniProtKB:A0A8M9PH00
|
2184 | |||||||||
UniProtKB:A0A8M3B905
|
2179 | |||||||||
UniProtKB:A0A8M9Q061
|
2185 | |||||||||
UniProtKB:A0A8M9PGZ5
|
2186 | |||||||||
UniProtKB:A0A8M9Q5R0
|
2191 | |||||||||
UniProtKB:A0A8M9Q5R5
|
2163 | |||||||||
UniProtKB:A0A8M9PH04
|
1701 | |||||||||
UniProtKB:A0A8M9Q067
|
2183 | |||||||||
UniProtKB:A0A8M9QAY5
|
2183 | |||||||||
UniProtKB:A0A8M9Q055
|
2193 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
cacna1c-201
(1)
|
Ensembl | 6753 nt | |
mRNA |
cacna1c-202
(1)
|
Havana | 6852 nt |
Interactions and Pathways
No data available
Plasmids
No data available