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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
calcium voltage-gated channel subunit alpha1 AMIM:601011Ensembl:ENSG00000141837HGNC:HGNC:1388PA2600719p13.13

GO terms in CACNA1A


Term TypeEvidence TypeGO Term IDGO Des.
MFIBAGO:0005245voltage-gated calcium channel activity
MFIDAGO:0005245voltage-gated calcium channel activity
MFIGIGO:0005245voltage-gated calcium channel activity
MFISSGO:0005245voltage-gated calcium channel activity
MFTASGO:0005245voltage-gated calcium channel activity
MFTASGO:0005262calcium channel activity
MFIPIGO:0005515protein binding
MFIDAGO:0008331high voltage-gated calcium channel activity
MFIDAGO:0019905syntaxin binding
MFIEAGO:0046872metal ion binding
BPIBAGO:0006816calcium ion transport
BPIDAGO:0007204positive regulation of cytosolic calcium ion concentration
BPISSGO:0007204positive regulation of cytosolic calcium ion concentration
BPIBAGO:0007268chemical synaptic transmission
BPIDAGO:0008219cell death
BPIEAGO:0034765regulation of ion transmembrane transport
BPTASGO:0050796regulation of insulin secretion
BPTASGO:0051899membrane depolarization
BPIBAGO:0070509calcium ion import
BPIDAGO:0070588calcium ion transmembrane transport
BPIDAGO:1904645response to amyloid-beta
BPIDAGO:1904646cellular response to amyloid-beta
BPIGIGO:1904646cellular response to amyloid-beta
CCIDAGO:0005634nucleus
CCIDAGO:0005737cytoplasm
CCIDAGO:0005886plasma membrane
CCTASGO:0005886plasma membrane
CCIEAGO:0005891voltage-gated calcium channel complex
CCNASGO:0016021integral component of membrane
CCTASGO:0016021integral component of membrane
CCIDAGO:0042995cell projection
CCISSGO:0043025neuronal cell body

Gene expression in normal tissue: CACNA1A

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in CACNA1A


DatabasePathway IDPathway Des.
reactomeR-HSA-112308Presynaptic depolarization and calcium channel opening
reactomeR-HSA-112315Transmission across Chemical Synapses
reactomeR-HSA-112316Neuronal System
reactomeR-HSA-1430728Metabolism
reactomeR-HSA-163685Integration of energy metabolism
reactomeR-HSA-422356Regulation of insulin secretion
biocartamyosinpathwaypkc-catalyzed phosphorylation of inhibitory phosphoprotein of myosin phosphatase
biocartarac1pathwayrac1 cell motility signaling pathway
biocartarhopathwayrho cell motility signaling pathway
kegghsa04010MAPK signaling pathway - Homo sapiens (human)
kegghsa04020Calcium signaling pathway - Homo sapiens (human)
kegghsa04721Synaptic vesicle cycle - Homo sapiens (human)
kegghsa04723Retrograde endocannabinoid signaling - Homo sapiens (human)
kegghsa04724Glutamatergic synapse - Homo sapiens (human)
kegghsa04725Cholinergic synapse - Homo sapiens (human)
kegghsa04726Serotonergic synapse - Homo sapiens (human)
kegghsa04727GABAergic synapse - Homo sapiens (human)
kegghsa04728Dopaminergic synapse - Homo sapiens (human)
kegghsa04730Long-term depression - Homo sapiens (human)
kegghsa04742Taste transduction - Homo sapiens (human)
kegghsa04930Type II diabetes mellitus - Homo sapiens (human)
kegghsa05032Morphine addiction - Homo sapiens (human)
kegghsa05033Nicotine addiction - Homo sapiens (human)
pharmgkbPA152241951Celecoxib Pathway, Pharmacodynamics
pharmgkbPA153627758Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics
pharmgkbPA2030Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction)
pharmgkbPA2042Sympathetic Nerve Pathway (Neuroeffector Junction)
smpdbSMP00392Benzocaine Action Pathway
smpdbSMP00393Bupivacaine Action Pathway
smpdbSMP00394Chloroprocaine Action Pathway
smpdbSMP00395Cocaine Action Pathway
smpdbSMP00396Dibucaine Action Pathway
smpdbSMP00397Levobupivacaine Action Pathway
smpdbSMP00398Lidocaine (Local Anaesthetic) Action Pathway
smpdbSMP00399Mepivacaine Action Pathway
smpdbSMP00400Oxybuprocaine Action Pathway
smpdbSMP00401Prilocaine Action Pathway
smpdbSMP00402Procaine Action Pathway
smpdbSMP00403Proparacaine Action Pathway
smpdbSMP00404Ropivacaine Action Pathway
smpdbSMP00405Codeine Action Pathway
smpdbSMP00406Morphine Action Pathway
smpdbSMP00407Heroin Action Pathway
smpdbSMP00408Methadone Action Pathway
smpdbSMP00409Oxycodone Action Pathway
smpdbSMP00410Hydromorphone Action Pathway
smpdbSMP00411Hydrocodone Action Pathway
smpdbSMP00412Oxymorphone Action Pathway
smpdbSMP00413Alfentanil Action Pathway
smpdbSMP00414Carfentanil Action Pathway
smpdbSMP00415Fentanyl Action Pathway
smpdbSMP00416Remifentanil Action Pathway
smpdbSMP00417Sufentanil Action Pathway
smpdbSMP00422Imipramine Action Pathway
smpdbSMP00423Desipramine Action Pathway
smpdbSMP00424Citalopram Action Pathway
smpdbSMP00425Escitalopram Action Pathway
smpdbSMP00426Fluoxetine Action Pathway
smpdbSMP00431Nicotine Action Pathway
smpdbSMP00453Nateglinide Action Pathway
smpdbSMP00454Repaglinide Action Pathway
smpdbSMP00460Glibenclamide Action Pathway
smpdbSMP00461Gliclazide Action Pathway
smpdbSMP00643Pancreas Function
smpdbSMP00671Tramadol Action Action Pathway
smpdbSMP00672Propoxyphene Action Pathway
smpdbSMP00673Levorphanol Action Pathway
smpdbSMP00674Anileridine Action Pathway
smpdbSMP00675Diphenoxylate Action Pathway
smpdbSMP00676Dezocine Action Pathway
smpdbSMP00677Levomethadyl Acetate Action Action Pathway
smpdbSMP00678Methadyl Acetate Action Pathway
smpdbSMP006793-Methylthiofentanyl Action Pathway
smpdbSMP00680Dimethylthiambutene Action Pathway
smpdbSMP00681Ethylmorphine Action Pathway
smpdbSMP00683Levallorphan Action Pathway
smpdbSMP00684Buprenorphine Action Pathway
smpdbSMP00685Alvimopan Action Pathway
smpdbSMP00686Pentazocine Action Pathway
smpdbSMP00687Naltrexone Action Pathway
smpdbSMP00688Naloxone Action Pathway
smpdbSMP00689Dihydromorphine Action Pathway
smpdbSMP00690Ketobemidone Action Pathway
smpdbSMP00691Nalbuphine Action Pathway
wikipathwaysWP1584Type II diabetes mellitus
wikipathwaysWP2267Synaptic Vesicle Pathway
wikipathwaysWP382MAPK Signaling Pathway
wikipathwaysWP536Calcium Regulation in the Cardiac Cell

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD353PD03259011
iGMDRD68Paclitaxel1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in CACNA1A

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