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Cacna1s
Gene Detail
 Symbol
Name
ID
Cacna1s
calcium channel, voltage-dependent, L type, alpha 1S subunit
MGI:88294
Synonyms Cav1.1, Cchl1a3, DHPR alpha1s, fmd, mdg, muscle dysgenesis, sj
Feature Type protein coding gene
Genetic Map
Chromosome 1
59.55 cM, cytoband F
Detailed Genetic Map ± 1 cM


Mapping data(8)
Sequence Map
Chr1:136052750-136119535 bp, + strand
From VEGA annotation of GRCm38

  66786 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:37257  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 2 zebrafish

Protein SuperFamily: voltage-gated calcium channel
Gene Tree: Cacna1s

Human
homologs
Human Homolog CACNA1S, calcium channel, voltage-dependent, L type, alpha 1S subunit
NCBI Gene ID 779
neXtProt AC  NX_Q13698
Human Synonyms  CACNL1A3, Cav1.1, CCHL1A3, HOKPP, HOKPP1, hypoPP, MHS5, TTPP1
Human Chr (Location)  1q32; chr1:201039507-201112566 (-)  GRCh38
Disease Associations  (3) Diseases Associated with Human CACNA1S
Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Spontaneous(1) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutants show edema and failure of myoblast differentiation by day 13 of embryonic development and die perinatally. All muscles degenerate and additional secondary anomalies of the skeleton, short jaw, and cleft palate are seen.
 
Human Diseases Modeled Using Mouse Cacna1s (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)
Interactions
Cacna1s interacts with 133 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (48 annotations)
Process calcium ion import, calcium ion transmembrane transport, ...
Component cytoplasm, I band, ...
Function calcium channel activity, high voltage-gated calcium channel activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (17 records)
Data Summary: Results (92)    Tissues (48)    Images (15)
Theiler Stages: 15, 19, 20, 22, 23, 24, 25, 26, 28
Assay TypeResults
RNA in situ 45
Northern blot 18
Western blot 10
RT-PCR 19
cDNA source data(16)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(24) Genomic(1) cDNA(19) Primer pair(4)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000033761 (Evidence)
Ensembl Gene ModelENSMUSG00000026407 (Evidence)
Entrez Gene12292 (Evidence)
UniGene4418
DFCITC1587358
DoTSDT.101716953, DT.40185435, DT.91328843
NIA Mouse Gene IndexU000850
Consensus CDS ProjectCCDS35724.1, CCDS48380.1
International Mouse Knockout Project StatusCacna1s
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000033761 VEGA Gene Model | MGI Sequence Detail 66786 C57BL/6J ±  kb
transcript OTTMUST00000085066 VEGA | MGI Sequence Detail 6104 Not Applicable 
polypeptide OTTMUSP00000045913 VEGA | MGI Sequence Detail 1850 Not Applicable 

For the selected sequences
All sequences(52) RefSeq(9) UniProt(8)
Polymorphisms RFLP(1) : SNPs within 2kb(671 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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 IPR005450 Voltage-dependent calcium channel, L-type, alpha-1S subunit
InterPro IPR005446 Voltage-dependent calcium channel, L-type, alpha-1 subunit
InterPro IPR027359 Voltage-dependent potassium channel, four helix bundle domain
Protein Ontology PR:000002116 voltage-dependent L-type calcium channel subunit alpha-1S
References (Earliest) J:28893 Smith, Short jaw (sj). Mouse News Lett. 1961;25:12
(Latest) J:206966 Etemad S, et al., Differential neuronal targeting of a new and two known calcium channel beta4 subunit splice variants correlates with their regulation of gene expression. J Neurosci. 2014 Jan 22;34(4):1446-61
All references(103)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-12163, MGD-MRK-14424, MGD-MRK-1800, MGD-MRK-9842, MGI:2138593

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
08/19/2014
MGI 5.19
The Jackson Laboratory