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CACNA1I (calcium voltage-gated channel subunit alpha1 I)

Identity

Alias_namescalcium channel
Alias_symbol (synonym)Cav3.3
Other aliasca(v)3.3
HGNC (Hugo) CACNA1I
LocusID (NCBI) 8911
Atlas_Id 55452
Location 22q13.1  [Link to chromosome band 22q13]
Location_base_pair Starts at 39570753 and ends at 39689736 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CACNA1I (22q13.1) / TAB1 (22q13.1)CACNA1I (22q13.1) / ZNF462 (9q31.2)SH3BP1 (22q13.1) / CACNA1I (22q13.1)

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)CACNA1I   1396
Cards
Entrez_Gene (NCBI)CACNA1I  8911  calcium voltage-gated channel subunit alpha1 I
AliasesCav3.3; ca(v)3.3
GeneCards (Weizmann)CACNA1I
Ensembl hg19 (Hinxton)ENSG00000100346 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100346 [Gene_View]  chr22:39570753-39689736 [Contig_View]  CACNA1I [Vega]
ICGC DataPortalENSG00000100346
TCGA cBioPortalCACNA1I
AceView (NCBI)CACNA1I
Genatlas (Paris)CACNA1I
WikiGenes8911
SOURCE (Princeton)CACNA1I
Genetics Home Reference (NIH)CACNA1I
Genomic and cartography
GoldenPath hg38 (UCSC)CACNA1I  -     chr22:39570753-39689736 +  22q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CACNA1I  -     22q13.1   [Description]    (hg19-Feb_2009)
EnsemblCACNA1I - 22q13.1 [CytoView hg19]  CACNA1I - 22q13.1 [CytoView hg38]
Mapping of homologs : NCBICACNA1I [Mapview hg19]  CACNA1I [Mapview hg38]
OMIM608230   
Gene and transcription
Genbank (Entrez)AB032946 AF129133 AF142567 AF211189 AF393329
RefSeq transcript (Entrez)NM_001003406 NM_021096
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CACNA1I
Cluster EST : UnigeneHs.125116 [ NCBI ]
CGAP (NCI)Hs.125116
Alternative Splicing GalleryENSG00000100346
Gene ExpressionCACNA1I [ NCBI-GEO ]   CACNA1I [ EBI - ARRAY_EXPRESS ]   CACNA1I [ SEEK ]   CACNA1I [ MEM ]
Gene Expression Viewer (FireBrowse)CACNA1I [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8911
GTEX Portal (Tissue expression)CACNA1I
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P0X4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P0X4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P0X4
Splice isoforms : SwissVarQ9P0X4
PhosPhoSitePlusQ9P0X4
Domains : Interpro (EBI)CACNA1I    Channel_four-helix_dom    Ion_trans_dom    VDCC_T_a1    VDCCAlpha1   
Domain families : Pfam (Sanger)Ion_trans (PF00520)   
Domain families : Pfam (NCBI)pfam00520   
Conserved Domain (NCBI)CACNA1I
DMDM Disease mutations8911
Blocks (Seattle)CACNA1I
SuperfamilyQ9P0X4
Human Protein AtlasENSG00000100346
Peptide AtlasQ9P0X4
HPRD10500
IPIIPI00152899   IPI00217484   IPI00412316   IPI00938135   IPI00382665   IPI00455036   
Protein Interaction databases
DIP (DOE-UCLA)Q9P0X4
IntAct (EBI)Q9P0X4
FunCoupENSG00000100346
BioGRIDCACNA1I
STRING (EMBL)CACNA1I
ZODIACCACNA1I
Ontologies - Pathways
QuickGOQ9P0X4
Ontology : AmiGOvoltage-gated calcium channel activity  voltage-gated sodium channel activity  protein binding  plasma membrane  voltage-gated calcium channel complex  transport  signal transduction  low voltage-gated calcium channel activity  neuronal action potential  flagellated sperm motility  sleep  regulation of ion transmembrane transport  sodium ion transmembrane transport  positive regulation of calcium ion-dependent exocytosis  regulation of postsynaptic membrane potential  calcium ion import  calcium ion transmembrane transport  membrane depolarization during action potential  
Ontology : EGO-EBIvoltage-gated calcium channel activity  voltage-gated sodium channel activity  protein binding  plasma membrane  voltage-gated calcium channel complex  transport  signal transduction  low voltage-gated calcium channel activity  neuronal action potential  flagellated sperm motility  sleep  regulation of ion transmembrane transport  sodium ion transmembrane transport  positive regulation of calcium ion-dependent exocytosis  regulation of postsynaptic membrane potential  calcium ion import  calcium ion transmembrane transport  membrane depolarization during action potential  
Pathways : KEGGMAPK signaling pathway    Calcium signaling pathway    Circadian entrainment   
NDEx NetworkCACNA1I
Atlas of Cancer Signalling NetworkCACNA1I
Wikipedia pathwaysCACNA1I
Orthology - Evolution
OrthoDB8911
GeneTree (enSembl)ENSG00000100346
Phylogenetic Trees/Animal Genes : TreeFamCACNA1I
HOVERGENQ9P0X4
HOGENOMQ9P0X4
Homologs : HomoloGeneCACNA1I
Homology/Alignments : Family Browser (UCSC)CACNA1I
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCACNA1I [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CACNA1I
dbVarCACNA1I
ClinVarCACNA1I
1000_GenomesCACNA1I 
Exome Variant ServerCACNA1I
ExAC (Exome Aggregation Consortium)CACNA1I (select the gene name)
Genetic variants : HAPMAP8911
Genomic Variants (DGV)CACNA1I [DGVbeta]
DECIPHERCACNA1I [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCACNA1I 
Mutations
ICGC Data PortalCACNA1I 
TCGA Data PortalCACNA1I 
Broad Tumor PortalCACNA1I
OASIS PortalCACNA1I [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCACNA1I  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCACNA1I
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
BioMutasearch CACNA1I
DgiDB (Drug Gene Interaction Database)CACNA1I
DoCM (Curated mutations)CACNA1I (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CACNA1I (select a term)
intoGenCACNA1I
Cancer3DCACNA1I(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608230   
Orphanet
MedgenCACNA1I
Genetic Testing Registry CACNA1I
NextProtQ9P0X4 [Medical]
TSGene8911
GENETestsCACNA1I
Huge Navigator CACNA1I [HugePedia]
snp3D : Map Gene to Disease8911
BioCentury BCIQCACNA1I
ClinGenCACNA1I
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8911
Chemical/Pharm GKB GenePA26011
Clinical trialCACNA1I
Miscellaneous
canSAR (ICR)CACNA1I (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCACNA1I
EVEXCACNA1I
GoPubMedCACNA1I
iHOPCACNA1I
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:08:38 CEST 2017

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