Gene

cacna1aa

ID
ZDB-GENE-040724-26
Name
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, a
Symbol
cacna1aa Nomenclature History
Previous Names
  • cacna1a (1)
  • si:ch211-237k17.1
  • ZfCav2.1 (1)
Type
protein_coding_gene
Location
Chr: 3 Mapping Details/Browsers
Description
Predicted to have voltage-gated calcium channel activity. Predicted to be involved in calcium ion import and chemical synaptic transmission. Predicted to localize to voltage-gated calcium channel complex. Is expressed in heart and nervous system. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 42; hereditary ataxia (multiple); and migraine (multiple). Orthologous to human CACNA1A (calcium voltage-gated channel subunit alpha1 A).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
9 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
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 cacna1aa Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
developmental and epileptic encephalopathy 42 Alliance Developemental 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 cacna1aa Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
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 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:E9QJF6 2265
UniProtKB:Q5RHB1 1938
UniProtKB:Q5RHB2 1939
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