Gene

cacna1sa

ID

ZDB-GENE-090514-1

Name

calcium channel, voltage-dependent, L type, alpha 1S subunit, a

Symbol

cacna1sa Nomenclature History

Previous Names

cacna1s (1)
cav1.1a1sa (1)

Type

protein_coding_gene

Location

Chr: 22 Mapping Details/Browsers

Description

Predicted to have high voltage-gated calcium channel activity. Predicted to be involved in calcium ion transport. Predicted to localize to voltage-gated calcium channel complex. Human ortholog(s) of this gene implicated in hypokalemic periodic paralysis and malignant hyperthermia. Is expressed in atrium; cardiac ventricle; and somite. Orthologous to human CACNA1S (calcium voltage-gated channel subunit alpha1 S).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

3 figures from 2 publications

Cross-Species Comparison

High Throughput Data

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: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With cacna1sa Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
congenital myopathy 18	Alliance	Congenital myopathy 18 due to dihydropyridine receptor defect	620246
hypokalemic periodic paralysis	Alliance	Hypokalemic periodic paralysis, type 1	170400
		{Malignant hyperthermia susceptibility 5}	601887
		{Thyrotoxic periodic paralysis, susceptibility to, 1}	188580

Associated With cacna1sa Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR002048	EF-hand domain
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	IPR005450	Voltage-dependent calcium channel, L-type, alpha-1S subunit
Family	IPR050599	Voltage-dependent calcium channel alpha-1 subunit
Homologous_superfamily	IPR027359	Voltage-dependent channel domain superfamily