CACNA1S (calcium voltage-gated channel subunit alpha1 S)

2016-10-01  

Identity

HGNC
CACNA1S
LOCATION
1q32.1
LOCUSID
779
ALIAS
CACNL1A3,CCHL1A3,Cav1.1,HOKPP,HOKPP1,MHS5,TTPP1,hypoPP
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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
368254572024CACNA1S mutation-associated dental anomalies: A calcium channelopathy.2
368254572024CACNA1S mutation-associated dental anomalies: A calcium channelopathy.2
375102682023Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.1
376790492023CACNA1S Variant Associated With a Myalgic Myopathy Phenotype.2
381112032023Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth.0
375102682023Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.1
376790492023CACNA1S Variant Associated With a Myalgic Myopathy Phenotype.2
381112032023Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth.0
346085712022Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.7
346085712022Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.7
337833542021Structural determinants of voltage-gating properties in calcium channels.14
339698282021MRTF-A regulates Ca(2+) release through CACNA1S.0
344637122021Gating pore currents occur in CaV1.1 domain III mutants associated with HypoPP.6
337833542021Structural determinants of voltage-gating properties in calcium channels.14
339698282021MRTF-A regulates Ca(2+) release through CACNA1S.0

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-(calcium-voltage-gated-channel-subunit-alpha1-s)