Version 5.4
Homo sapiens Gene: CACNA1A
Summary
InnateDB Gene IDBG-31996.6
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 APCA; BI; CACNL1A4; CAV2.1; EA2; FHM; HPCA; MHP; MHP1; SCA6
Species Homo sapiens
Ensembl Gene ENSG00000141837
Encoded Proteins
IDBP-31998
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
IDBP-759858
IDBP-762350
IDBP-763401
IDBP-764898
IDBP-765921
IDBP-761626
IDBP-806776
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 19:13206442-13623990
Strand Reverse strand
Band p13.13
Transcripts
ENST00000360228 ENSP00000353362
ENST00000573891 ENSP00000460276
ENST00000585802 ENSP00000465598
ENST00000593160
ENST00000590205
ENST00000592864 ENSP00000464729
ENST00000587525 ENSP00000467729
ENST00000573710 ENSP00000460092
ENST00000587451
ENST00000574822
ENST00000593267
ENST00000574974 ENSP00000459963
ENST00000586190
ENST00000614285 ENSP00000479983
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 106 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 106 [view]
Protein-Protein 106 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005216 ion channel activity
GO:0005244 voltage-gated 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:0006112 energy reserve 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:0034220 ion transmembrane transport
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:0044281 small molecule metabolic 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:0050796 regulation of insulin secretion
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:0070588 calcium ion transmembrane transport
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:0016021 integral component of membrane
GO:0030425 dendrite
GO:0042995 cell projection
GO:0043025 neuronal cell body
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000034656
View Gene Order
ENSBTAG00000014828
Not yet available
Pathways
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
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.501632 Hs.729638
RefSeq NM_000068 NM_001127221 NM_001127222 NM_001174080 NM_023035
HUGO
OMIM
CCDS CCDS45998 CCDS45999
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas

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