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Gene Detail
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Synonyms alpha1A, Cacnl1a4, Ccha1a, nmf352, SCA6
Feature Type protein coding gene
Genetic Map
Chromosome 8
40.95 cM
Detailed Genetic Map ± 1 cM

Mapping data(17)
Sequence Map
Chr8:84388440-84640246 bp, + strand
From VEGA annotation of GRCm38

  251807 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
HomoloGene:56383  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: voltage-gated calcium channel
Gene Tree: Cacna1a

Human Homolog CACNA1A, calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
NCBI Gene ID 773
neXtProt AC  NX_O00555
Human Synonyms  APCA, BI, CACNL1A4, CAV2.1, EA2, FHM, HPCA, MHP, MHP1, SCA6
Human Chr (Location)  19p13; chr19:13206442-13506460 (-)  GRCh38
Disease Associations  (3) Diseases Associated with Human CACNA1A
alleles, and
All mutations/alleles(60) : Chemically induced (ENU)(3) Gene trapped(28) Spontaneous(7) Targeted(22)
Incidental mutations (data from Mutagenetix , APF )
Homozygotes for different mutant alleles are characterized by variably severe wobbly gait beginning prior to weaning, ataxia, episodic dyskinesia, cerebellar atrophy, and absence epilepsy.
Human Diseases Modeled Using Mouse Cacna1a (2)    Alleles Annotated to Human Diseases(3)    Phenotype Images(1)
Cacna1a interacts with 101 markers (Mir7-2, Mir7b, Mir9-1, ...)
Gene Ontology
All GO classifications: (126 annotations)
Process adult walking behavior, behavioral response to pain, ...
Component cell, cell projection, ...
Function calcium channel activity, calmodulin binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Literature Summary: (8 records)
Data Summary: Results (128)    Tissues (30)    Images (23)
Theiler Stages: 17, 20, 22, 23, 24, 25, 27, 28
Assay TypeResults
RNA in situ 66
Northern blot 48
cDNA source data(30)
External Resources: Allen Institute   GEO   Expression Atlas
All nucleic(41) Genomic(4) cDNA(31) Primer pair(5) Other(1)
Microarray probesets(6)
Other database
VEGA Gene ModelOTTMUSG00000031448 (Evidence)
Ensembl Gene ModelENSMUSG00000034656 (Evidence)
Entrez Gene12286 (Evidence)
DFCITC1578602, TC1592447, TC1596750, TC1607998
DoTSDT.101273643, DT.101283505, DT.101316080, DT.527675, DT.91367001, DT.97382846
NIA Mouse Gene IndexU009570
Consensus CDS ProjectCCDS52618.1, CCDS57628.1
International Mouse Knockout Project StatusCacna1a
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031448 VEGA Gene Model | MGI Sequence Detail 251807 C57BL/6J ±  kb
transcript OTTMUST00000077929 VEGA | MGI Sequence Detail 7926 Not Applicable 
polypeptide OTTMUSP00000041322 VEGA | MGI Sequence Detail 2368 Not Applicable 

For the selected sequences
All sequences(121) RefSeq(58) UniProt(7)
Polymorphisms All PCR and RFLP(4) : PCR(3) RFLP(1) SNPs within 2kb(2512 from dbSNP Build 137)    SNPs within 2kb including multiple locations(2524)
InterPro IPR017956 AT hook, DNA-binding motif
InterPro IPR005821 Ion transport domain
InterPro IPR002077 Voltage-dependent calcium channel, alpha-1 subunit
InterPro IPR014873 Voltage-dependent calcium channel, alpha-1 subunit, IQ domain
InterPro IPR005448 Voltage-dependent calcium channel, P/Q-type, alpha-1 subunit
InterPro IPR027359 Voltage-dependent potassium channel, four helix bundle domain
Protein Ontology PR:000002118 voltage-dependent P/Q-type calcium channel subunit alpha-1A
References (Earliest) J:262 GREEN MC, et al., Tottering--a neuromusclar mutation in the mouse. And its linkage with oligosyndacylism. J Hered. 1962 Sep-Oct;53:233-7
(Latest) J:211481 Park J, et al., Differential trigeminovascular nociceptive responses in the thalamus in the familial hemiplegic migraine 1 knock-in mouse: a Fos protein study. Neurobiol Dis. 2014 Apr;64:1-7
All references(262)
Disease annotation references (7)
accession IDs
MGD-MRK-11727, MGD-MRK-15048, MGD-MRK-35757, MGD-MRK-39481, MGI:1890949, MGI:3588957

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 5.19
The Jackson Laboratory