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 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; chr1:201008640-201081694 (-)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human CACNA1S

Alleles and phenotypes

All alleles(5) : Targeted(4) Spontaneous(1)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (43 annotations)

Process	calcium ion transmembrane transport, calcium ion 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: (15 records)
Data Summary: Results (92)    Tissues (48)    Images (15)
Theiler Stages: 15, 19, 20, 22, 23, 24, 25, 26, 28

Assay Type	Results
RNA in situ	45
Northern blot	18
Western blot	10
RT-PCR	19

cDNA source data(16)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(24) Genomic(1) cDNA(19) Primer pair(4)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000033761 (Evidence)
Ensembl Gene Model	ENSMUSG00000026407 (Evidence)
Entrez Gene	12292 (Evidence)
UniGene	4418
DFCI	TC1587358
DoTS	DT.101716953, DT.40185435, DT.91328843
NIA Mouse Gene Index	U000850
Consensus CDS Project	CCDS35724.1, CCDS48380.1
International Mouse Knockout Project Status	Cacna1s

Sequences

Length	Strain/Species
genomic	OTTMUSG00000033761	VEGA Gene Model | MGI Sequence Detail	66786	C57BL/6J
transcript	OTTMUST00000085066	VEGA | MGI Sequence Detail	6104	Not Applicable
polypeptide	OTTMUSP00000045913	VEGA | MGI Sequence Detail	1850	Not Applicable

All sequences(48) RefSeq(5) UniProt(8)

Polymorphisms

RFLP(1) : SNPs(525 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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
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:193967 Wu F, et al., A calcium channel mutant mouse model of hypokalemic periodic paralysis. J Clin Invest. 2012 Dec 3;122(12):4580-91
All references(97)

Other accession IDs

MGD-MRK-12163, MGD-MRK-14424, MGD-MRK-1800, MGD-MRK-9842, MGI:2138593