Gene

cacna1ha

ID

ZDB-GENE-130103-1

Name

calcium channel, voltage-dependent, T type, alpha 1H subunit a

Symbol

cacna1ha Nomenclature History

Previous Names

sb:cb648

Type

protein_coding_gene

Location

Chr: 3 Mapping Details/Browsers

Description

Predicted to have low voltage-gated calcium channel activity and voltage-gated sodium channel activity. Predicted to be involved in several processes, including calcium ion import; neuronal action potential; and positive regulation of calcium ion-dependent exocytosis. Predicted to localize to neuron projection and voltage-gated sodium channel complex. Human ortholog(s) of this gene implicated in childhood absence epilepsy and primary hyperaldosteronism. Is expressed in adaxial cell; diencephalon; heart; and retinal neural layer. Orthologous to human CACNA1H (calcium voltage-gated channel subunit alpha1 H).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

9 figures from 4 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb648 (16 images)

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 cacna1ha Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		Hyperaldosteronism, familial, type IV	617027
		{Epilepsy, childhood absence, susceptibility to, 6}	611942
		{Epilepsy, idiopathic generalized, susceptibility to, 6}	611942

Associated With cacna1ha Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR005821	Ion transport domain
Family	IPR002077	Voltage-dependent calcium channel, alpha-1 subunit
Family	IPR005445	Voltage-dependent calcium channel, T-type, alpha-1 subunit
Family	IPR043203	Voltage-gated cation channel calcium and sodium
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, T-type, alpha-1 subunit	Voltage-dependent channel domain superfamily	Voltage-gated cation channel calcium and sodium
UniProtKB:A0A8M9PGJ8 InterPro	2090
UniProtKB:A0A8M3B162 InterPro	2190
UniProtKB:A0A8M9Q5I3 InterPro	2198
UniProtKB:A0A8M3AR36 InterPro	2191
UniProtKB:A0A8M3AY82 InterPro	2180

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
antisense	ottdart00000053725 (1) Ensembl	Ensembl	606 nt	Select Tool
mRNA	cacna1ha-201 (1) Ensembl	Ensembl	7,875 nt	Select Tool
mRNA	cacna1ha-202 (1) Ensembl	Ensembl	1,104 nt	Select Tool ZFIN BLAST
mRNA	cacna1ha-203 (1) Ensembl	Ensembl	2,058 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance

Citations