Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CACNA1S (calcium voltage-gated channel subunit alpha1 S)

Identity

Alias (NCBI)CACNL1A3
CCHL1A3
Cav1.1
HOKPP
HOKPP1
MHS5
TTPP1
hypoPP
HGNC (Hugo) CACNA1S
HGNC Alias symbCav1.1
hypoPP
HGNC Previous nameHOKPP
 MHS5
 CACNL1A3
HGNC Previous namecalcium channel, voltage-dependent, L type, alpha 1S subunit
LocusID (NCBI) 779
Atlas_Id 56081
Location 1q32.1  [Link to chromosome band 1q32]
Location_base_pair Starts at 201039512 and ends at 201112426 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
TROVE2 (1q31.2) / CACNA1S (1q32.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)CACNA1S   1397
Cards
Entrez_Gene (NCBI)CACNA1S    calcium voltage-gated channel subunit alpha1 S
AliasesCACNL1A3; CCHL1A3; Cav1.1; HOKPP; 
HOKPP1; MHS5; TTPP1; hypoPP
GeneCards (Weizmann)CACNA1S
Ensembl hg19 (Hinxton)ENSG00000081248 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000081248 [Gene_View]  ENSG00000081248 [Sequence]  chr1:201039512-201112426 [Contig_View]  CACNA1S [Vega]
ICGC DataPortalENSG00000081248
TCGA cBioPortalCACNA1S
AceView (NCBI)CACNA1S
Genatlas (Paris)CACNA1S
SOURCE (Princeton)CACNA1S
Genetics Home Reference (NIH)CACNA1S
Genomic and cartography
GoldenPath hg38 (UCSC)CACNA1S  -     chr1:201039512-201112426 -  1q32.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CACNA1S  -     1q32.1   [Description]    (hg19-Feb_2009)
GoldenPathCACNA1S - 1q32.1 [CytoView hg19]  CACNA1S - 1q32.1 [CytoView hg38]
ImmunoBaseENSG00000081248
Genome Data Viewer NCBICACNA1S [Mapview hg19]  
OMIM114208   170400   188580   601887   
Gene and transcription
Genbank (Entrez)BC133671 L33798 U09784 U14413 U18986
RefSeq transcript (Entrez)NM_000069
Consensus coding sequences : CCDS (NCBI)CACNA1S
Gene ExpressionCACNA1S [ NCBI-GEO ]   CACNA1S [ EBI - ARRAY_EXPRESS ]   CACNA1S [ SEEK ]   CACNA1S [ MEM ]
Gene Expression Viewer (FireBrowse)CACNA1S [ Firebrowse - Broad ]
GenevisibleExpression of CACNA1S in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)779
GTEX Portal (Tissue expression)CACNA1S
Human Protein AtlasENSG00000081248-CACNA1S [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13698   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13698  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13698
PhosPhoSitePlusQ13698
Domains : Interpro (EBI)GPHH_dom    Ion_trans_dom    VDCC_a1su_IQ    VDCC_L_a1ssu    VDCC_L_a1su    VDCCAlpha1    Volt_channel_dom_sf   
Domain families : Pfam (Sanger)Ca_chan_IQ (PF08763)    GPHH (PF16905)    Ion_trans (PF00520)   
Domain families : Pfam (NCBI)pfam08763    pfam16905    pfam00520   
Domain families : Smart (EMBL)Ca_chan_IQ (SM01062)  
Conserved Domain (NCBI)CACNA1S
PDB (RSDB)2VAY    6B27   
PDB Europe2VAY    6B27   
PDB (PDBSum)2VAY    6B27   
PDB (IMB)2VAY    6B27   
Structural Biology KnowledgeBase2VAY    6B27   
SCOP (Structural Classification of Proteins)2VAY    6B27   
CATH (Classification of proteins structures)2VAY    6B27   
SuperfamilyQ13698
AlphaFold pdb e-kbQ13698   
Human Protein Atlas [tissue]ENSG00000081248-CACNA1S [tissue]
HPRD00248
Protein Interaction databases
DIP (DOE-UCLA)Q13698
IntAct (EBI)Q13698
BioGRIDCACNA1S
STRING (EMBL)CACNA1S
ZODIACCACNA1S
Ontologies - Pathways
QuickGOQ13698
Ontology : AmiGOvoltage-gated calcium channel activity  voltage-gated calcium channel activity  protein binding  calmodulin binding  cytoplasm  plasma membrane  voltage-gated calcium channel complex  calcium ion transport  calcium ion transport  muscle contraction  high voltage-gated calcium channel activity  high voltage-gated calcium channel activity  T-tubule  I band  regulation of ion transmembrane transport  metal ion binding  calcium ion import  calcium ion transmembrane transport  cellular response to caffeine  L-type voltage-gated calcium channel complex  
Ontology : EGO-EBIvoltage-gated calcium channel activity  voltage-gated calcium channel activity  protein binding  calmodulin binding  cytoplasm  plasma membrane  voltage-gated calcium channel complex  calcium ion transport  calcium ion transport  muscle contraction  high voltage-gated calcium channel activity  high voltage-gated calcium channel activity  T-tubule  I band  regulation of ion transmembrane transport  metal ion binding  calcium ion import  calcium ion transmembrane transport  cellular response to caffeine  L-type voltage-gated calcium channel complex  
Pathways : KEGGMAPK signaling pathway    Calcium signaling pathway    Cardiac muscle contraction    Adrenergic signaling in cardiomyocytes    Vascular smooth muscle contraction    Retrograde endocannabinoid signaling    Cholinergic synapse    Serotonergic synapse    GABAergic synapse    Insulin secretion    GnRH signaling pathway    Alzheimer's disease    Hypertrophic cardiomyopathy (HCM)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)    Dilated cardiomyopathy   
NDEx NetworkCACNA1S
Atlas of Cancer Signalling NetworkCACNA1S
Wikipedia pathwaysCACNA1S
Orthology - Evolution
OrthoDB779
GeneTree (enSembl)ENSG00000081248
Phylogenetic Trees/Animal Genes : TreeFamCACNA1S
Homologs : HomoloGeneCACNA1S
Homology/Alignments : Family Browser (UCSC)CACNA1S
Gene fusions - Rearrangements
Fusion : QuiverCACNA1S
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCACNA1S [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CACNA1S
dbVarCACNA1S
ClinVarCACNA1S
MonarchCACNA1S
1000_GenomesCACNA1S 
Exome Variant ServerCACNA1S
GNOMAD BrowserENSG00000081248
Varsome BrowserCACNA1S
ACMGCACNA1S variants
VarityQ13698
Genomic Variants (DGV)CACNA1S [DGVbeta]
DECIPHERCACNA1S [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCACNA1S 
Mutations
ICGC Data PortalCACNA1S 
TCGA Data PortalCACNA1S 
Broad Tumor PortalCACNA1S
OASIS PortalCACNA1S [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCACNA1S  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCACNA1S
Mutations and Diseases : HGMDCACNA1S
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCACNA1S
DgiDB (Drug Gene Interaction Database)CACNA1S
DoCM (Curated mutations)CACNA1S
CIViC (Clinical Interpretations of Variants in Cancer)CACNA1S
Cancer3DCACNA1S
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114208    170400    188580    601887   
Orphanet211    649    22700    11144   
DisGeNETCACNA1S
MedgenCACNA1S
Genetic Testing Registry CACNA1S
NextProtQ13698 [Medical]
GENETestsCACNA1S
Target ValidationCACNA1S
Huge Navigator CACNA1S [HugePedia]
ClinGenCACNA1S
Clinical trials, drugs, therapy
MyCancerGenomeCACNA1S
Protein Interactions : CTDCACNA1S
Pharm GKB GenePA85
Pharm GKB PathwaysPA152241951   PA166122732   PA2024   
PharosQ13698
Clinical trialCACNA1S
Miscellaneous
canSAR (ICR)CACNA1S
HarmonizomeCACNA1S
DataMed IndexCACNA1S
Probes
Litterature
PubMed78 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCACNA1S
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:01:59 CEST 2021

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