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 enable calcium ion binding activity and voltage-gated calcium channel activity. Predicted to act upstream of or within calcium ion transmembrane transport and regulation of monoatomic ion transmembrane transport. Predicted to be located in membrane. Predicted to be part of voltage-gated calcium channel complex. Is expressed in atrium; cardiac ventricle; and somite. Human ortholog(s) of this gene implicated in hypokalemic periodic paralysis and malignant hyperthermia. 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