Gene

cacna1c

ID
ZDB-GENE-020129-1
Name
calcium channel, voltage-dependent, L type, alpha 1C subunit
Symbol
cacna1c Nomenclature History
Previous Names
  • C-LTCC (1)
  • isl
  • island beat
  • ZfCav1.2 (1)
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. Human ortholog(s) of this gene implicated in Brugada syndrome 3 and Timothy syndrome. Is expressed in central nervous system; digestive system; lateral plate mesoderm; pericardial region; and splanchnocranium. Orthologous to human CACNA1C (calcium voltage-gated channel subunit alpha1 C).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
9 figures from 8 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
21 figures from 11 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With cacna1c Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Brugada syndrome 3 Alliance Brugada syndrome 3 611875
Timothy syndrome Alliance Timothy syndrome 601005
Long QT syndrome 8 618447
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 620029
Associated With cacna1c Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
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, 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:F1R1T3 2168
UniProtKB:Q90ZA7 2168
UniProtKB:Q5TZF1 2196
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations