CACNA1A


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 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016].

Loading, please wait...
Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location

GO terms in CACNA1A


Loading, please wait...
Term Type
Evidence Type
GO Term ID
GO Des.
MF IBA GO:0005245 voltage-gated calcium channel activity
MF IDA GO:0005245 voltage-gated calcium channel activity
MF IGI GO:0005245 voltage-gated calcium channel activity
MF ISS GO:0005245 voltage-gated calcium channel activity
MF TAS GO:0005245 voltage-gated calcium channel activity
MF TAS GO:0005262 calcium channel activity
Showing 1 to 6 of 32 rows rows per page

Gene expression in normal tissue: CACNA1A

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 2

Gene-drug pathway distribution

Metabolic pathways1ERK MAPK signaling1

Pathways in CACNA1A


Loading, please wait...
Database
Pathway ID
Pathway Des.
reactome R-HSA-112308 Presynaptic depolarization and calcium channel opening
reactome R-HSA-112315 Transmission across Chemical Synapses
reactome R-HSA-112316 Neuronal System
reactome R-HSA-1430728 Metabolism
reactome R-HSA-163685 Integration of energy metabolism
reactome R-HSA-422356 Regulation of insulin secretion
Showing 1 to 6 of 88 rows rows per page

Gene-Drug: Aster Plot


Loading, please wait...
Drug ID
Drug Name
Model Num.
iGMDRD353 PD0325901 1
iGMDRD68 Paclitaxel 1
Showing 1 to 2 of 2 rows

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in CACNA1A

Loading, please wait...
Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

​​​​