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CACNA1S (calcium voltage-gated channel subunit alpha1 S)

Identity

Alias_namesHOKPP
MHS5
CACNL1A3
calcium channel
Alias_symbol (synonym)Cav1.1
hypoPP
Other aliasCCHL1A3
HOKPP1
TTPP1
HGNC (Hugo) CACNA1S
LocusID (NCBI) 779
Atlas_Id 56081
Location 1q32.1  [Link to chromosome band 1q32]
Location_base_pair Starts at 201039512 and ends at 201112566 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
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  779  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]  chr1:201039512-201112566 [Contig_View]  CACNA1S [Vega]
ICGC DataPortalENSG00000081248
TCGA cBioPortalCACNA1S
AceView (NCBI)CACNA1S
Genatlas (Paris)CACNA1S
WikiGenes779
SOURCE (Princeton)CACNA1S
Genetics Home Reference (NIH)CACNA1S
Genomic and cartography
GoldenPath hg38 (UCSC)CACNA1S  -     chr1:201039512-201112566 -  1q32.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CACNA1S  -     1q32.1   [Description]    (hg19-Feb_2009)
EnsemblCACNA1S - 1q32.1 [CytoView hg19]  CACNA1S - 1q32.1 [CytoView hg38]
Mapping of homologs : NCBICACNA1S [Mapview hg19]  CACNA1S [Mapview hg38]
OMIM114208   170400   188580   601887   
Gene and transcription
Genbank (Entrez)BC133671 L33798 U09784 U14413 U18986
RefSeq transcript (Entrez)NM_000069
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CACNA1S
Cluster EST : UnigeneHs.1294 [ NCBI ]
CGAP (NCI)Hs.1294
Alternative Splicing GalleryENSG00000081248
Gene ExpressionCACNA1S [ NCBI-GEO ]   CACNA1S [ EBI - ARRAY_EXPRESS ]   CACNA1S [ SEEK ]   CACNA1S [ MEM ]
Gene Expression Viewer (FireBrowse)CACNA1S [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)779
GTEX Portal (Tissue expression)CACNA1S
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
Splice isoforms : SwissVarQ13698
PhosPhoSitePlusQ13698
Domains : Interpro (EBI)Channel_four-helix_dom    GPHH_dom    Ion_trans_dom    VDCC_a1su_IQ    VDCC_L_a1ssu    VDCC_L_a1su    VDCCAlpha1   
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
DMDM Disease mutations779
Blocks (Seattle)CACNA1S
PDB (SRS)2VAY   
PDB (PDBSum)2VAY   
PDB (IMB)2VAY   
PDB (RSDB)2VAY   
Structural Biology KnowledgeBase2VAY   
SCOP (Structural Classification of Proteins)2VAY   
CATH (Classification of proteins structures)2VAY   
SuperfamilyQ13698
Human Protein AtlasENSG00000081248
Peptide AtlasQ13698
HPRD00248
IPIIPI00299240   IPI00642897   
Protein Interaction databases
DIP (DOE-UCLA)Q13698
IntAct (EBI)Q13698
FunCoupENSG00000081248
BioGRIDCACNA1S
STRING (EMBL)CACNA1S
ZODIACCACNA1S
Ontologies - Pathways
QuickGOQ13698
Ontology : AmiGOvoltage-gated calcium channel activity  protein binding  cytoplasm  plasma membrane  plasma membrane  voltage-gated calcium channel complex  calcium ion transport  muscle contraction  high voltage-gated calcium channel activity  T-tubule  I band  regulation of ion transmembrane transport  metal ion binding  cardiac conduction  calcium ion transmembrane transport  membrane depolarization during action potential  
Ontology : EGO-EBIvoltage-gated calcium channel activity  protein binding  cytoplasm  plasma membrane  plasma membrane  voltage-gated calcium channel complex  calcium ion transport  muscle contraction  high voltage-gated calcium channel activity  T-tubule  I band  regulation of ion transmembrane transport  metal ion binding  cardiac conduction  calcium ion transmembrane transport  membrane depolarization during action potential  
Pathways : KEGG   
NDEx NetworkCACNA1S
Atlas of Cancer Signalling NetworkCACNA1S
Wikipedia pathwaysCACNA1S
Orthology - Evolution
OrthoDB779
GeneTree (enSembl)ENSG00000081248
Phylogenetic Trees/Animal Genes : TreeFamCACNA1S
HOVERGENQ13698
HOGENOMQ13698
Homologs : HomoloGeneCACNA1S
Homology/Alignments : Family Browser (UCSC)CACNA1S
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCACNA1S [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CACNA1S
dbVarCACNA1S
ClinVarCACNA1S
1000_GenomesCACNA1S 
Exome Variant ServerCACNA1S
ExAC (Exome Aggregation Consortium)CACNA1S (select the gene name)
Genetic variants : HAPMAP779
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]  
Mutations and Diseases : HGMDCACNA1S
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch CACNA1S
DgiDB (Drug Gene Interaction Database)CACNA1S
DoCM (Curated mutations)CACNA1S (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CACNA1S (select a term)
intoGenCACNA1S
Cancer3DCACNA1S(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114208    170400    188580    601887   
Orphanet211    649    22700    11144   
MedgenCACNA1S
Genetic Testing Registry CACNA1S
NextProtQ13698 [Medical]
TSGene779
GENETestsCACNA1S
Target ValidationCACNA1S
Huge Navigator CACNA1S [HugePedia]
snp3D : Map Gene to Disease779
BioCentury BCIQCACNA1S
ClinGenCACNA1S
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD779
Chemical/Pharm GKB GenePA85
Clinical trialCACNA1S
Miscellaneous
canSAR (ICR)CACNA1S (select the gene name)
Probes
Litterature
PubMed63 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCACNA1S
EVEXCACNA1S
GoPubMedCACNA1S
iHOPCACNA1S
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 : Wed Jun 7 12:26:27 CEST 2017

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