InnateDB: Systems Biology of the Innate Immune Response

Bos taurus Gene: CACNA1A

Summary

InnateDB Gene

IDBG-642817.2

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CACNA1A

Gene Name

voltage-dependent P/Q-type calcium channel subunit alpha-1A

Synonyms

CAV2.1

Species

Bos taurus

Ensembl Gene

ENSBTAG00000014828

Encoded Proteins

IDBP-695325

voltage-dependent P/Q-type calcium channel subunit alpha-1A

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 7:13249309-13506224

Strand

Forward strand

Band

Transcripts

ENSBTAT00000019752

ENSBTAP00000019752

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 85 interaction(s) predicted by orthology.

Predicted by orthology
Total	85 [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:0005262	calcium channel activity
GO:0005515	protein binding
GO:0008331	high voltage-gated calcium channel activity
GO:0019905	syntaxin binding

Biological Process

GO:0000096	sulfur amino acid metabolic process
GO:0006006	glucose metabolic process
GO:0006810	transport
GO:0006811	ion transport
GO:0006816	calcium ion transport
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: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