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
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:A0A0R4IFN9 2319
UniProtKB:F8W3Z0 2280
UniProtKB:F8W536 276
UniProtKB:F8W631 243
Transcripts
Genome Browsers
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