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. Is expressed in Rohon-Beard neurons; atrium; cardiac ventricle; and spinal cord. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 42; hereditary ataxia (multiple); and migraine (multiple). Orthologous to human CACNA1A (calcium voltage-gated channel subunit alpha1 A).
Genome Resources
Note
None
Expression
All Expression Data
3 figures from 3 publications
Cross-Species Comparison
High Throughput 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
early infantile epileptic encephalopathy 42 Alliance Epileptic encephalopathy, early infantile, 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:F8W631 243
UniProtKB:F8W536 276
UniProtKB:A0A0R4IFN9 2319
UniProtKB:F8W3Z0 2280
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations