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
Enables voltage-gated calcium channel activity. Acts upstream of or within several processes, including calcium ion import; 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
Expression
All Expression Data
11 figures from 9 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
22 figures from 12 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
a366Allele with one delinsUnknownUnknownCRISPR
biz102Allele with one deletionExon 2UnknownCRISPR
la015364TgTransgenic insertionUnknownUnknownDNA
m231unknownUnknownUnknownENU
m379Allele with one point mutationUnknownPremature StopENU
m458Allele with one point mutationUnknownPremature StopENU
sa6050Allele with one point mutationUnknownSplice SiteENU
sa6943Allele with one point mutationUnknownSplice SiteENU
sa10930Allele with one point mutationUnknownPremature StopENU
sa15296Allele with one point mutationUnknownSplice SiteENU
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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
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
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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
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Domain Details Per Protein
Protein Additional Resources 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 InterPro 2183
UniProtKB:A0A8M9QAX1 InterPro 2202
UniProtKB:A0A8M9PGZ0 InterPro 2201
UniProtKB:A0A8M9QAX6 InterPro 2193
UniProtKB:A0A8M9PU49 InterPro 2186
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 4
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
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-87P6ZFIN Curated Data
Contained inBACDKEY-65M5ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanCACNA1C12
Amino acid sequence comparison (2)
Conserved genome location (synteny) (1)
MouseCacna1c6
Amino acid sequence comparison (1)
Conserved genome location (synteny) (1)
Citations
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