CACNA1S (calcium voltage-gated channel subunit alpha1 S)

2016-10-01  

Identity

HGNC
LOCATION
1q32.1
LOCUSID
ALIAS
CACNL1A3,CCHL1A3,Cav1.1,HOKPP,HOKPP1,MHS5,TTPP1,hypoPP
FUSION GENES

Other Information

Locus ID:

NCBI: 779
MIM: 114208
HGNC: 1397
Ensembl: ENSG00000081248

Variants:

dbSNP: 779
ClinVar: 779
TCGA: ENSG00000081248
COSMIC: CACNA1S

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000081248ENST00000362061Q13698
ENSG00000081248ENST00000367338B1ALM3

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
MAPK signaling pathwayKEGGko04010
Calcium signaling pathwayKEGGko04020
GnRH signaling pathwayKEGGko04912
Alzheimer's diseaseKEGGko05010
MAPK signaling pathwayKEGGhsa04010
Calcium signaling pathwayKEGGhsa04020
GnRH signaling pathwayKEGGhsa04912
Alzheimer's diseaseKEGGhsa05010
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Vascular smooth muscle contractionKEGGhsa04270
Vascular smooth muscle contractionKEGGko04270
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGhsa05412
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Cholinergic synapseKEGGhsa04725
GABAergic synapseKEGGko04727
GABAergic synapseKEGGhsa04727
Serotonergic synapseKEGGhsa04726
Retrograde endocannabinoid signalingKEGGhsa04723
Retrograde endocannabinoid signalingKEGGko04723
Insulin secretionKEGGhsa04911
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
Renin secretionKEGGhsa04924
Renin secretionKEGGko04924
Muscle contractionREACTOMER-HSA-397014
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
NCAM1 interactionsREACTOMER-HSA-419037
Aldosterone synthesis and secretionKEGGhsa04925
Aldosterone synthesis and secretionKEGGko04925
Cardiac conductionREACTOMER-HSA-5576891
Phase 0 - rapid depolarisationREACTOMER-HSA-5576892
Phase 2 - plateau phaseREACTOMER-HSA-5576893

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164749136desfluraneChemicalClinicalAnnotation, GuidelineAnnotation, LabelAnnotationassociatedPD11260227, 12411788, 15201141, 16163667
PA33748PRKACAGenePathwayassociated
PA33749PRKACBGenePathwayassociated
PA33750PRKACGGenePathwayassociated
PA34896RYR1GeneDataAnnotationassociated
PA444863Malignant HyperthermiaDiseaseClinicalAnnotation, DataAnnotation, Literature, MultilinkAnnotationassociatedPD11260227, 12411788, 15201141, 16163667, 23788249
PA448871celecoxibChemicalPathwayassociated22336956
PA449461enfluraneChemicalClinicalAnnotation, GuidelineAnnotation, LabelAnnotationassociatedPD11260227, 12411788, 15201141, 16163667
PA449845halothaneChemicalClinicalAnnotation, GuidelineAnnotationassociatedPD11260227, 12411788, 15201141, 16163667
PA450106isofluraneChemicalClinicalAnnotation, GuidelineAnnotation, LabelAnnotationassociatedPD11260227, 12411788, 15201141, 16163667
PA450434methoxyfluraneChemicalClinicalAnnotation, GuidelineAnnotationassociatedPD11260227, 12411788, 15201141, 16163667
PA451341sevofluraneChemicalClinicalAnnotation, GuidelineAnnotation, LabelAnnotationassociatedPD11260227, 12411788, 15201141, 16163667
PA451522succinylcholineChemicalClinicalAnnotation, GuidelineAnnotation, LabelAnnotationassociatedPD11260227, 12411788, 15201141, 16163667

References

Pubmed IDYearTitleCitations
221400912012Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel.71
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
191182772009Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.56
191344692009A CaV1.1 Ca2+ channel splice variant with high conductance and voltage-sensitivity alters EC coupling in developing skeletal muscle.42
198251592009The role of CACNA1S in predisposition to malignant hyperthermia.40
198251592009The role of CACNA1S in predisposition to malignant hyperthermia.40
208614722010Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit.25
191913292009Increasing the number of diagnostic mutations in malignant hyperthermia.22
240135712013Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families.20
280120422017Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.16

Citation

Dessen P

CACNA1S (calcium voltage-gated channel subunit alpha1 S)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56081/cacna1s