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Cacna1a
Gene Detail
Symbol

Name
ID
Cacna1a
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
MGI:109482
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
Vertebrate
homology
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

HCOP human homology predictions: CACNA1A
Protein SuperFamily: voltage-gated calcium channel
Gene Tree: Cacna1a

Human
homologs
CACNA1A, calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Orthology source: HomoloGene, HGNC

IDs:
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.p2

Disease Associations: (3) Diseases Associated with Human CACNA1A

Mutations,
alleles, and
phenotypes
All mutations/alleles(60) : Chemically induced (ENU)(3) Gene trapped(28) Spontaneous(7) Targeted(22)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Cacna1a (2)    Mutations Annotated to Human Diseases (3)    Phenotype Images(1)
Interactions
Cacna1a interacts with 101 markers (Mir7-2, Mir7b, Mir9-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (128 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
Expression
Literature Summary: (9 records)
Data Summary: Results (128)    Tissues (30)    Images (23)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 66
Northern blot 48
RT-PCR 14
cDNA source data(30)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase cacna1a ; ZFIN cacna1aa, cacna1ab    NEW 
Molecular
reagents
All nucleic(41) Genomic(4) cDNA(31) Primer pair(5) Other(1)
Microarray probesets(6)
Other database
links
VEGA Gene Model OTTMUSG00000031448 (Evidence)
Ensembl Gene Model ENSMUSG00000034656 (Evidence)
Entrez Gene 12286 (Evidence)
UniGene 334658
DFCI TC1592447, TC1578602, TC1596750, TC1607998
DoTS DT.97382846, DT.91367001, DT.527675, DT.101316080, DT.101283505, DT.101273643
NIA Mouse Gene Index U009570
Consensus CDS Project CCDS52618.1, CCDS57628.1
International Mouse Phenotyping Consortium Status Cacna1a
Sequences
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(127) RefSeq(64) 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)
Protein-related
information
ResourceIDDescription
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:221102 Kim TY, et al., Absence-like seizures and their pharmacological profile in tottering-6j mice. Biochem Biophys Res Commun. 2015 May 20;
All references(270)
Disease annotation references (8)
Other
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
06/23/2015
MGI 5.22
The Jackson Laboratory