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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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

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

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
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 InterPro	2183
UniProtKB:A0A8M9QAX1 InterPro	2202
UniProtKB:A0A8M9PGZ0 InterPro	2201
UniProtKB:A0A8M9QAX6 InterPro	2193
UniProtKB:A0A8M9PU49 InterPro	2186
UniProtKB:A0A8M9PU44 InterPro	2200
UniProtKB:A0A8M9Q050 InterPro	2202
UniProtKB:A0A8M9Q5Q9 InterPro	2201
UniProtKB:A0A8M9Q5R3 InterPro	2184
UniProtKB:A0A8M9QAY0 InterPro	2185
UniProtKB:Q90ZA7 InterPro	2168
UniProtKB:A0A8M9PH00 InterPro	2184
UniProtKB:A0A8M3B905 InterPro	2179
UniProtKB:A0A8M9Q061 InterPro	2185
UniProtKB:A0A8M9PGZ5 InterPro	2186
UniProtKB:A0A8M9Q5R0 InterPro	2191
UniProtKB:A0A8M9Q5R5 InterPro	2163
UniProtKB:A0A8M9PH04 InterPro	1701
UniProtKB:A0A8M9Q067 InterPro	2183
UniProtKB:A0A8M9QAY5 InterPro	2183
UniProtKB:A0A8M9Q055 InterPro	2193