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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 zebrafish

Protein SuperFamily: voltage-gated calcium channel
Gene Tree: Cacna1a
Human
homologs
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; chr19:13317256-13617274 (-)  GRCh37.p10
Disease Associations  (3) Diseases Associated with Human CACNA1A
Alleles
and
phenotypes 		All alleles(60) : Targeted(22) Gene trapped(28) Spontaneous(7) Chemically induced(3)
 
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)
Gene Ontology
(GO)
classifications 		All GO classifications: (131 annotations)
Process adult walking behavior, behavioral response to pain, ...
Component cell projection, cytoplasm, ...
Function calcium channel activity, calmodulin binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression Literature Summary: (6 records)
Data Summary: Results (128)    Tissues (26)    Images (23)
Theiler Stages: 17, 20, 22, 23, 24, 25, 28
Assay TypeResults
RNA in situ 66
Northern blot 48
RT-PCR 14
cDNA source data(31)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents 		All nucleic(42) Genomic(4) cDNA(32) Primer pair(5) Other(1)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000031448 (Evidence)
Ensembl Gene ModelENSMUSG00000034656 (Evidence)
Entrez Gene12286 (Evidence)
UniGene334658
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
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(71) RefSeq(8) UniProt(7)
Polymorphisms All PCR and RFLP(4) : PCR(3) RFLP(1) SNPs(1181 from dbSNP Build 128)
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
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:195878 Franceschini A, et al., TNFalpha levels and macrophages expression reflect an inflammatory potential of trigeminal ganglia in a mouse model of familial hemiplegic migraine. PLoS One. 2013;8(1):e52394
All references(243)
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
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
05/22/2013
MGI 5.13 		The Jackson Laboratory