Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KCNA1 (potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia))

Identity

Other namesAEMK
EA1
HBK1
HUK1
KV1.1
MBK1
MK1
RBK1
HGNC (Hugo) KCNA1
LocusID (NCBI) 3736
Location 12p13.32
Location_base_pair Starts at 5019073 and ends at 5027422 bp from pter ( according to hg19-Feb_2009)
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)KCNA1   6218
Cards
Entrez_Gene (NCBI)KCNA1  3736  potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
GeneCards (Weizmann)KCNA1
Ensembl (Hinxton)ENSG00000111262 [Gene_View]  chr12:5019073-5027422 [Contig_View]  KCNA1 [Vega]
ICGC DataPortalENSG00000111262
AceView (NCBI)KCNA1
Genatlas (Paris)KCNA1
WikiGenes3736
SOURCE (Princeton)NM_000217
Genomic and cartography
GoldenPath (UCSC)KCNA1  -  12p13.32   chr12:5019073-5027422 +  12p13.32   [Description]    (hg19-Feb_2009)
EnsemblKCNA1 - 12p13.32 [CytoView]
Mapping of homologs : NCBIKCNA1 [Mapview]
OMIM160120   176260   
Gene and transcription
Genbank (Entrez)BC101733 BC112180 DA236475 L02750
RefSeq transcript (Entrez)NM_000217
RefSeq genomic (Entrez)AC_000144 NC_000012 NC_018923 NG_011815 NT_009759 NW_001838049 NW_004929382
Consensus coding sequences : CCDS (NCBI)KCNA1
Cluster EST : UnigeneHs.416139 [ NCBI ]
CGAP (NCI)Hs.416139
Alternative Splicing : Fast-db (Paris)GSHG0036015
Alternative Splicing GalleryENSG00000111262
Gene ExpressionKCNA1 [ NCBI-GEO ]     KCNA1 [ SEEK ]   KCNA1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ09470 (Uniprot)
NextProtQ09470  [Medical]
With graphics : InterProQ09470
Splice isoforms : SwissVarQ09470 (Swissvar)
Domains : Interpro (EBI)BTB/POZ-like    BTB/POZ_fold    Channel_four-helix_dom    Ion_trans_dom    K_chnl    K_chnl_volt-dep_Kv    K_chnl_volt-dep_Kv1    K_chnl_volt-dep_Kv1.1    T1-type_BTB    VG_K_chnl   
Related proteins : CluSTrQ09470
Domain families : Pfam (Sanger)BTB_2 (PF02214)    Ion_trans (PF00520)   
Domain families : Pfam (NCBI)pfam02214    pfam00520   
Domain families : Smart (EMBL)BTB (SM00225)  
DMDM Disease mutations3736
Blocks (Seattle)Q09470
PDB (SRS)2AFL   
PDB (PDBSum)2AFL   
PDB (IMB)2AFL   
PDB (RSDB)2AFL   
Human Protein AtlasENSG00000111262
Peptide AtlasQ09470
HPRD08885
IPIIPI00020983   
Protein Interaction databases
DIP (DOE-UCLA)Q09470
IntAct (EBI)Q09470
FunCoupENSG00000111262
BioGRIDKCNA1
InParanoidQ09470
Interologous Interaction database Q09470
IntegromeDBKCNA1
STRING (EMBL)KCNA1
Ontologies - Pathways
Ontology : AmiGOdelayed rectifier potassium channel activity  potassium channel activity  protein binding  plasma membrane  potassium ion transport  synaptic transmission  voltage-gated potassium channel complex  potassium ion transmembrane transporter activity  apical plasma membrane  dendrite  regulation of ion transmembrane transport  neuronal cell body  juxtaparanode region of axon  protein homooligomerization  potassium ion transmembrane transport  
Ontology : EGO-EBIdelayed rectifier potassium channel activity  potassium channel activity  protein binding  plasma membrane  potassium ion transport  synaptic transmission  voltage-gated potassium channel complex  potassium ion transmembrane transporter activity  apical plasma membrane  dendrite  regulation of ion transmembrane transport  neuronal cell body  juxtaparanode region of axon  protein homooligomerization  potassium ion transmembrane transport  
Pathways : BIOCARTA?-arrestins in GPCR Desensitization [Genes]    Roles of ?-arrestin-dependent Recruitment of Src Kinases in GPCR Signaling [Genes]    Role of ?-arrestins in the activation and targeting of MAP kinases [Genes]   
Protein Interaction DatabaseKCNA1
Wikipedia pathwaysKCNA1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)KCNA1
SNP (GeneSNP Utah)KCNA1
SNP : HGBaseKCNA1
Genetic variants : HAPMAPKCNA1
1000_GenomesKCNA1 
ICGC programENSG00000111262 
CONAN: Copy Number AnalysisKCNA1 
Somatic Mutations in Cancer : COSMICKCNA1 
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
Mutations and Diseases : HGMDKCNA1
OMIM160120    176260   
MedgenKCNA1
GENETestsKCNA1
Disease Genetic AssociationKCNA1
Huge Navigator KCNA1 [HugePedia]  KCNA1 [HugeCancerGEM]
Genomic VariantsKCNA1  KCNA1 [DGVbeta]
Exome VariantKCNA1
dbVarKCNA1
ClinVarKCNA1
snp3D : Map Gene to Disease3736
General knowledge
Homologs : HomoloGeneKCNA1
Homology/Alignments : Family Browser (UCSC)KCNA1
Phylogenetic Trees/Animal Genes : TreeFamKCNA1
Chemical/Protein Interactions : CTD3736
Chemical/Pharm GKB GenePA30019
Clinical trialKCNA1
Cancer Resource (Charite)ENSG00000111262
Other databases
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
CoreMineKCNA1
iHOPKCNA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 13 12:54:02 CEST 2014

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