Entity Details

Primary name CACNA1A
Entity type gene
Source Source Link

Details

PrimaryID773
RefseqGeneNG_011569
SymbolCACNA1A
Namecalcium voltage-gated channel subunit alpha1 A
Chromosome19
Location19p13.13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-12
ModificationDate2021-06-13

Ontological Relatives

UniProt IDsCAC1A_HUMAN

GO terms

Show/Hide Table
GOName
GO:0001540 amyloid-beta binding
GO:0005245 voltage-gated calcium channel activity
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005891 voltage-gated calcium channel complex
GO:0006816 calcium ion transport
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0007268 chemical synaptic transmission
GO:0008219 cell death
GO:0008331 high voltage-gated calcium channel activity
GO:0016021 integral component of membrane
GO:0019905 syntaxin binding
GO:0034765 regulation of ion transmembrane transport
GO:0042995 cell projection
GO:0043025 neuronal cell body
GO:0045202 synapse
GO:0046872 metal ion binding
GO:0050796 regulation of insulin secretion
GO:0050804 modulation of chemical synaptic transmission
GO:0051899 membrane depolarization
GO:0070509 calcium ion import
GO:0070588 calcium ion transmembrane transport
GO:1904645 response to amyloid-beta
GO:1904646 cellular response to amyloid-beta

Diseases

Show/Hide Table
Disease IDSourceNameDescription
108500 OMIMEpisodic ataxia 2 (EA2)An autosomal dominant disorder characterized by acetozolamide-responsive attacks of ataxia, migraine-like symptoms, interictal nystagmus, and cerebellar atrophy. The disease is caused by variants affecting the gene represented in this entry.
141500 OMIMMigraine, familial hemiplegic, 1 (FHM1)A subtype of migraine with aura associated with ictal hemiparesis and, in some families, cerebellar ataxia and atrophy. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. The disease is caused by variants affecting the gene represented in this entry.
183086 OMIMSpinocerebellar ataxia 6 (SCA6)Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA6 is an autosomal dominant cerebellar ataxia (ADCA), mainly caused by expansion of a CAG repeat in the coding region of CACNA1A. There seems to be a correlation between the repeat number and earlier onset of the disorder. The disease is caused by variants affecting the gene represented in this entry.
617106 OMIMDevelopmental and epileptic encephalopathy 42 (DEE42)A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE42 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.

Interactions

101 interactions

InteractorPartnerSourcesPublicationsLink
CACNA1AABI1BioGRID, IntAct21078624 details
CACNA1AABCA2BioGRID, IntAct21078624 details
CACNA1AGET3BioGRID, IntAct21078624 details
CACNA1AARHGAP22BioGRID, IntAct21078624 details
CACNA1AAP2M1BioGRID, IntAct21078624 details
CACNA1AAMIGO2BioGRID, IntAct21078624 details
CACNA1AALDOABioGRID, IntAct21078624 details
CACNA1AACTN1BioGRID, IntAct21078624 details
CACNA1ACKAP5BioGRID, IntAct21078624 details
CACNA1ACALM1IntAct21078624 details
CACNA1ACALM2BioGRID, IntAct21078624 details
CACNA1ACALM3BioGRID, IntAct21078624 details
CACNA1AC1QTNF1BioGRID, IntAct21078624 details
CACNA1ATSPOAP1BioGRID, IntAct21078624 details
CACNA1ACRIM1BioGRID, IntAct21078624 details
CACNA1AHHATLBioGRID, IntAct21078624 details
CACNA1AGRNBioGRID, IntAct21078624 details
CACNA1AFBLN1BioGRID, IntAct21078624 details
CACNA1AEIF3ABioGRID, IntAct21078624 details
CACNA1AEHMT2BioGRID, IntAct21078624 details
CACNA1AEFEMP2BioGRID, IntAct21078624 details
CACNA1AEFEMP1BioGRID, IntAct21078624 details
CACNA1ADNAJB5BioGRID, IntAct21078624 details
CACNA1ACSNK2BBioGRID, IntAct21078624 details
CACNA1AKALRNBioGRID, IntAct21078624 details
CACNA1AHECW1BioGRID, IntAct21078624 details
CACNA1AKHDRBS3BioGRID, IntAct21078624 details
CACNA1AJAG2BioGRID, IntAct21078624 details
CACNA1AIP6K1BioGRID, IntAct21078624 details
CACNA1AHSPG2BioGRID, IntAct21078624 details
CACNA1AHIVEP1BioGRID, IntAct21078624 details
CACNA1AKIAA1191BioGRID, IntAct21078624 details
CACNA1ASRRM4BioGRID, IntAct21078624 details
CACNA1ALRP1BioGRID, IntAct21078624 details
CACNA1AADGRL1BioGRID, IntAct21078624 details
CACNA1ALLGL1BioGRID, IntAct21078624 details
CACNA1ATELO2BioGRID, IntAct21078624 details
CACNA1AMEGF6BioGRID, IntAct21078624 details
CACNA1AMATN2BioGRID, IntAct21078624 details
CACNA1AMATKBioGRID, IntAct21078624 details
CACNA1AMANBALBioGRID, IntAct21078624 details
CACNA1ALTBP4BioGRID, IntAct21078624 details
CACNA1AMEGF8BioGRID, IntAct21078624 details
CACNA1AMIA3BioGRID, IntAct21078624 details
CACNA1AMOAP1BioGRID, IntAct21078624 details
CACNA1ANDUFB8BioGRID, IntAct21078624 details
CACNA1ANELL2BioGRID, IntAct21078624 details
CACNA1ANELL1BioGRID, IntAct21078624 details
CACNA1ACYSRT1BioGRID, IntAct21078624 details
CACNA1ANOTCH1BioGRID, IntAct21078624 details
CACNA1ANOXA1BioGRID, IntAct21078624 details
CACNA1APCSK5BioGRID, IntAct21078624 details
CACNA1APCSK6BioGRID, IntAct21078624 details
CACNA1APMM1BioGRID, IntAct21078624 details
CACNA1APPIGBioGRID, IntAct21078624 details
CACNA1APPP1R12CBioGRID, IntAct21078624 details
CACNA1AOLIG1BioGRID, IntAct21078624 details
CACNA1ARBM12BBioGRID, IntAct21078624 details
CACNA1ARIMBP2BioGRID, IntAct21078624 details
CACNA1ARPL31BioGRID, IntAct21078624 details
CACNA1ARPS17BioGRID, IntAct21078624 details
CACNA1ASCP2BioGRID, IntAct21078624 details
CACNA1APTGDSBioGRID, IntAct21078624 details
CACNA1ATSC22D1BioGRID, IntAct21078624 details
CACNA1ANELFCDBioGRID, IntAct21078624 details
CACNA1ATAF15BioGRID, IntAct21078624 details
CACNA1ASUMF2BioGRID, IntAct21078624 details
CACNA1ASPRY1BioGRID, IntAct21078624 details
CACNA1ASRSF1BioGRID, IntAct21078624 details
CACNA1APUF60BioGRID, IntAct21078624 details
CACNA1AWBP1BioGRID, IntAct21078624 details
CACNA1AVWFBioGRID, IntAct21078624 details
CACNA1AVPS52BioGRID, IntAct21078624 details
CACNA1AVARS1BioGRID, IntAct21078624 details
CACNA1AUQCRC2BioGRID, IntAct21078624 details
CACNA1ATUBB2BBioGRID, IntAct21078624 details
CACNA1ATSPAN7BioGRID, IntAct21078624 details
CACNA1AZCCHC17BioGRID, IntAct21078624 details
CACNA1AZNF233BioGRID, IntAct21078624 details
CACNA1AYLPM1BioGRID, IntAct21078624 details
CACNA1AGOLGA6L9IntAct21078624 details
CACNA1AAGRNBioGRID, IntAct21078624 details
CACNA1ALAMB1BioGRID, IntAct21078624 details
CACNA1ACABP1BioGRID, HPRD11865310 14570872 details
CACNA1ACACNB4BioGRID, HPRD10212211 9442082 details
CACNA1ASYT1BioGRID, HPRD9303303 details
CACNA1ABTG3BioGRID21078624 details
CACNA1ACRMP1BioGRID21078624 details
CACNA1ALTBP1BioGRID21078624 details
CACNA1ALTBP3BioGRID21078624 details
CACNA1AKDM5BBioGRID19336002 details
CACNA1AGNB2BioGRID9238069 details
CACNA1AKLHL1BioGRID17289272 details
CACNA1AUBE2L3BioGRID25483588 details
CACNA1AMAP1BBioGRID25483588 details
CACNA1ACACNB1HPRD1370480 details
CACNA1APPM1AHPRD15728831 details
CACNA1AGNB1HPRD9009193 details
CACNA1ABCL6BioGRID, IntAct16147992 details
CACNA1ATCTN2BioGRID, IntAct26638075 details
CACNA1ATCTN3BioGRID, IntAct26638075 details