Gene

cacna1ab

ID

ZDB-GENE-090514-3

Name

calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, b

Symbol

cacna1ab Nomenclature History

Previous Names

far (1)
fakir (1)
unm tb204
unm_tb204

Type

protein_coding_gene

Location

Chr: 11 Mapping Details/Browsers

Description

Exhibits high voltage-gated calcium channel activity. Involved in neuromuscular synaptic transmission; swimming behavior; and thigmotaxis. Predicted to localize to voltage-gated calcium channel complex. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 42; hereditary ataxia (multiple); and migraine (multiple). Is expressed in Rohon-Beard neurons; atrium; cardiac ventricle; and spinal cord. Orthologous to human CACNA1A (calcium voltage-gated channel subunit alpha1 A).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

3 figures from 3 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: 9 figures from 4 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With cacna1ab Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
developmental and epileptic encephalopathy 42	Alliance	Developmental and epileptic encephalopathy 42	617106
episodic ataxia type 2	Alliance	Episodic ataxia, type 2	108500
familial hemiplegic migraine 1	Alliance	Migraine, familial hemiplegic, 1	141500
familial hemiplegic migraine 1	Alliance	Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia	141500
spinocerebellar ataxia type 6	Alliance	Spinocerebellar ataxia 6	183086

Associated With cacna1ab 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
Family	IPR002077	Voltage-dependent calcium channel, alpha-1 subunit
Family	IPR050599	Voltage-dependent calcium channel alpha-1 subunit
Homologous_superfamily	IPR027359	Voltage-dependent channel domain superfamily

Domain Details Per Protein

Protein	Length	EF-hand domain	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 channel domain superfamily	Voltage-dependent L-type calcium channel, IQ-associated domain
UniProtKB:A0A8M9PV10 InterPro	2324
UniProtKB:A0A8M9QD65 InterPro	2331
UniProtKB:F8W3Z0 InterPro	2280
UniProtKB:A0A8M9PUZ6 InterPro	2336
UniProtKB:A0A8M9QLQ1 InterPro	2119
UniProtKB:A0A8M9QLP2 InterPro	2335
UniProtKB:A0A8M9PV04 InterPro	2332
UniProtKB:A0A8M9QD59 InterPro	2335
UniProtKB:A0A8M9Q7B0 InterPro	2332
UniProtKB:A0A8M9Q7A3 InterPro	2336
UniProtKB:A0A8M9QLP7 InterPro	2330
UniProtKB:A0A8M9QHR9 InterPro	1693
UniProtKB:A0A8M9QHR4 InterPro	2328
UniProtKB:A0A8M9QHQ9 InterPro	2335
UniProtKB:A0A8M9Q7B5 InterPro	2296
UniProtKB:A0A8M9QD71 InterPro	2284
UniProtKB:A0A8M6Z3D5 InterPro	2331

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	cacna1ab-201 (1) Ensembl	Ensembl	829 nt	Select Tool
mRNA	cacna1ab-203 (1) Ensembl	Ensembl	728 nt	Select Tool
mRNA	cacna1ab-205 (1) Ensembl	Ensembl	6,843 nt	Select Tool ZFIN BLAST
mRNA	cacna1ab-206 (1) Ensembl	Ensembl	8,383 nt	Select Tool
ncRNA	cacna1ab-003 (1) Ensembl	Ensembl	714 nt	Select Tool
ncRNA	cacna1ab-005 (1) Ensembl	Ensembl	808 nt	Select Tool

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations