Version 5.4
Mus musculus Gene: Cacna1a
Summary
InnateDB Gene IDBG-174190.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Cacna1a
Gene Name calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Synonyms alpha1A; APCA; BI; Caca1a; Cacnl1a4; Cav2.1; Ccha1a; EA2; FHM; HPCA; la; MHP; MHP1; nmf352; rkr; SCA6; tg
Species Mus musculus
Ensembl Gene ENSMUSG00000034656
Encoded Proteins
IDBP-400934
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
IDBP-400932
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000141837:
Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Mar 2010]
Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3\' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Mar 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:84388440-84640246
Strand Forward strand
Band C2
Transcripts
ENSMUST00000121390 ENSMUSP00000112436
ENSMUST00000122053 ENSMUSP00000114055
ENSMUST00000135382
ENSMUST00000129620
ENSMUST00000126302
ENSMUST00000143215
ENSMUST00000141981
ENSMUST00000144879
ENSMUST00000153691
ENSMUST00000130507
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 89 interaction(s) predicted by orthology.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 89 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005216 ion channel activity
GO:0005245 voltage-gated calcium channel activity
GO:0005515 protein binding
GO:0008331 high voltage-gated calcium channel activity
GO:0019905 syntaxin binding
GO:0046872 metal ion binding
Biological Process
GO:0000096 sulfur amino acid metabolic process
GO:0006006 glucose metabolic process
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0007214 gamma-aminobutyric acid signaling pathway
GO:0007268 synaptic transmission
GO:0007270 neuron-neuron synaptic transmission
GO:0007274 neuromuscular synaptic transmission
GO:0007416 synapse assembly
GO:0007628 adult walking behavior
GO:0008219 cell death
GO:0014051 gamma-aminobutyric acid secretion
GO:0014056 regulation of acetylcholine secretion
GO:0016049 cell growth
GO:0017156 calcium ion-dependent exocytosis
GO:0017158 regulation of calcium ion-dependent exocytosis
GO:0019226 transmission of nerve impulse
GO:0021522 spinal cord motor neuron differentiation
GO:0021590 cerebellum maturation
GO:0021679 cerebellar molecular layer development
GO:0021680 cerebellar Purkinje cell layer development
GO:0021702 cerebellar Purkinje cell differentiation
GO:0021750 vestibular nucleus development
GO:0021953 central nervous system neuron differentiation
GO:0030644 cellular chloride ion homeostasis
GO:0032353 negative regulation of hormone biosynthetic process
GO:0034765 regulation of ion transmembrane transport
GO:0035249 synaptic transmission, glutamatergic
GO:0042133 neurotransmitter metabolic process
GO:0042391 regulation of membrane potential
GO:0042445 hormone metabolic process
GO:0043113 receptor clustering
GO:0043524 negative regulation of neuron apoptotic process
GO:0048265 response to pain
GO:0048266 behavioral response to pain
GO:0048791 calcium ion-dependent exocytosis of neurotransmitter
GO:0048813 dendrite morphogenesis
GO:0050770 regulation of axonogenesis
GO:0050877 neurological system process
GO:0050883 musculoskeletal movement, spinal reflex action
GO:0050885 neuromuscular process controlling balance
GO:0050905 neuromuscular process
GO:0051899 membrane depolarization
GO:0055085 transmembrane transport
GO:0060024 rhythmic synaptic transmission
GO:0070509 calcium ion import
GO:0086010 membrane depolarization during action potential
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005891 voltage-gated calcium channel complex
GO:0016020 membrane
GO:0030425 dendrite
GO:0042995 cell projection
GO:0043025 neuronal cell body
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000141837
View Gene Order
ENSBTAG00000014828
Not yet available
Pathways
NETPATH
REACTOME
REACT_217323
Integration of energy metabolism pathway
REACT_188937
Metabolism pathway
REACT_263148
Regulation of insulin secretion pathway
REACT_225645
Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels pathway
REACT_259290
Neuronal System pathway
REACT_233318
Transmission across Chemical Synapses pathway
KEGG
mmu04742
Taste transduction pathway
mmu04930
Type II diabetes mellitus pathway
mmu04020
Calcium signaling pathway pathway
mmu04010
MAPK signaling pathway pathway
mmu04730
Long-term depression pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
REACT_18325
Regulation of insulin secretion pathway
REACT_1505
Integration of energy metabolism pathway
REACT_13685
Neuronal System pathway
REACT_13606
Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels pathway
REACT_13477
Transmission across Chemical Synapses pathway
REACT_111217
Metabolism pathway
KEGG
hsa04010
MAPK signaling pathway pathway
hsa04742
Taste transduction pathway
hsa04730
Long-term depression pathway
hsa04930
Type II diabetes mellitus pathway
hsa04020
Calcium signaling pathway pathway
INOH
PID NCI
Cross-References
SwissProt P97445
TrEMBL Q76N29 Q76N30 Q9R0P8
UniProt Splice Variant
Entrez Gene 12286
UniGene Mm.334658 Mm.462494 Mm.488321
RefSeq NM_001252060 NM_001252061 NM_007578 XM_006530587 XM_006530588 XM_006530589 XM_006530590 XM_006530591 XM_006530592 XM_006530593 XM_006530594 XM_006530595 XM_006530596 XM_006530597 XM_006530598 XM_006530599 XM_006530600 XM_006530603 XM_006530611 NM_001252059
OMIM
CCDS CCDS52618 CCDS57628
HPRD
IMGT
MGI ID MGI:109482
MGI Symbol Cacna1a
EMBL AB011275 AB011276 AB025352 AY714490 U76716
GenPept AAC52940 AAW56205 BAA33545 BAA33546 BAA84110
RNA Seq Atlas 12286

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca