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

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
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, 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	Havana	829 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	cacna1ab-203 (1) Ensembl	Havana	728 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	cacna1ab-206 (1) Ensembl	Havana	8383 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	cacna1ab-003 (1) Ensembl	Havana	714 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	cacna1ab-005 (1) Ensembl	Havana	808 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

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