Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

KCNA1 (potassium voltage-gated channel subfamily A member 1)

Identity

Other namesAEMK
EA1
HBK1
HUK1
KV1.1
MBK1
MK1
RBK1
HGNC (Hugo) KCNA1
LocusID (NCBI) 3736
Atlas_Id 50218
Location 12p13.32  [Link to chromosome band 12p13]
Location_base_pair Starts at 5019073 and ends at 5027422 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KCNA1 (12p13.32) / NELL2 (12q12)

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 subfamily A member 1
AliasesAEMK; EA1; HBK1; HUK1; 
KV1.1; MBK1; MK1; RBK1
GeneCards (Weizmann)KCNA1
Ensembl hg19 (Hinxton)ENSG00000111262 [Gene_View]  chr12:5019073-5027422 [Contig_View]  KCNA1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000111262 [Gene_View]  chr12:5019073-5027422 [Contig_View]  KCNA1 [Vega]
ICGC DataPortalENSG00000111262
TCGA cBioPortalKCNA1
AceView (NCBI)KCNA1
Genatlas (Paris)KCNA1
WikiGenes3736
SOURCE (Princeton)KCNA1
Genomic and cartography
GoldenPath hg19 (UCSC)KCNA1  -     chr12:5019073-5027422 +  12p13.32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KCNA1  -     12p13.32   [Description]    (hg38-Dec_2013)
EnsemblKCNA1 - 12p13.32 [CytoView hg19]  KCNA1 - 12p13.32 [CytoView hg38]
Mapping of homologs : NCBIKCNA1 [Mapview hg19]  KCNA1 [Mapview hg38]
OMIM160120   176260   
Gene and transcription
Genbank (Entrez)AK094760 AK124568 BC101733 BC112180 DA236475
RefSeq transcript (Entrez)NM_000217
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_011815 NT_009759 NW_004929382
Consensus coding sequences : CCDS (NCBI)KCNA1
Cluster EST : UnigeneHs.416139 [ NCBI ]
CGAP (NCI)Hs.416139
Alternative Splicing GalleryENSG00000111262
Gene ExpressionKCNA1 [ NCBI-GEO ]   KCNA1 [ EBI - ARRAY_EXPRESS ]   KCNA1 [ SEEK ]   KCNA1 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3736
GTEX Portal (Tissue expression)KCNA1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ09470 (Uniprot)
NextProtQ09470  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ09470
Splice isoforms : SwissVarQ09470 (Swissvar)
PhosPhoSitePlusQ09470
Domains : Interpro (EBI)BTB/POZ_dom    Channel_four-helix_dom    Ion_trans_dom    K_chnl_volt-dep_Kv    K_chnl_volt-dep_Kv1    K_chnl_volt-dep_Kv1.1    SKP1/BTB/POZ    T1-type_BTB    VG_K_chnl   
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)KCNA1
PDB (SRS)2AFL   
PDB (PDBSum)2AFL   
PDB (IMB)2AFL   
PDB (RSDB)2AFL   
Structural Biology KnowledgeBase2AFL   
SCOP (Structural Classification of Proteins)2AFL   
CATH (Classification of proteins structures)2AFL   
SuperfamilyQ09470
Human Protein AtlasENSG00000111262
Peptide AtlasQ09470
HPRD08885
IPIIPI00020983   
Protein Interaction databases
DIP (DOE-UCLA)Q09470
IntAct (EBI)Q09470
FunCoupENSG00000111262
BioGRIDKCNA1
STRING (EMBL)KCNA1
ZODIACKCNA1
Ontologies - Pathways
QuickGOQ09470
Ontology : AmiGOstartle response  voltage-gated potassium channel activity  delayed rectifier potassium channel activity  potassium channel activity  protein binding  endoplasmic reticulum  cytosol  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  potassium ion transport  regulation of muscle contraction  synaptic transmission  neuroblast proliferation  voltage-gated potassium channel complex  cell surface  cell communication by electrical coupling  magnesium ion homeostasis  potassium ion transmembrane transporter activity  cytoplasmic, membrane-bounded vesicle  apical plasma membrane  neuronal action potential  hippocampus development  neuronal signal transduction  cell junction  dendrite  paranode region of axon  cellular protein localization  regulation of ion transmembrane transport  regulation of membrane potential  presynaptic membrane  neuronal cell body  perikaryon  axon terminus  juxtaparanode region of axon  juxtaparanode region of axon  synapse  neuromuscular process  neuromuscular process  detection of mechanical stimulus involved in sensory perception of pain  detection of mechanical stimulus involved in sensory perception of touch  protein homooligomerization  cellular response to magnesium ion  potassium ion transmembrane transport  
Ontology : EGO-EBIstartle response  voltage-gated potassium channel activity  delayed rectifier potassium channel activity  potassium channel activity  protein binding  endoplasmic reticulum  cytosol  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  potassium ion transport  regulation of muscle contraction  synaptic transmission  neuroblast proliferation  voltage-gated potassium channel complex  cell surface  cell communication by electrical coupling  magnesium ion homeostasis  potassium ion transmembrane transporter activity  cytoplasmic, membrane-bounded vesicle  apical plasma membrane  neuronal action potential  hippocampus development  neuronal signal transduction  cell junction  dendrite  paranode region of axon  cellular protein localization  regulation of ion transmembrane transport  regulation of membrane potential  presynaptic membrane  neuronal cell body  perikaryon  axon terminus  juxtaparanode region of axon  juxtaparanode region of axon  synapse  neuromuscular process  neuromuscular process  detection of mechanical stimulus involved in sensory perception of pain  detection of mechanical stimulus involved in sensory perception of touch  protein homooligomerization  cellular response to magnesium ion  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]   
NDEx NetworkKCNA1
Atlas of Cancer Signalling NetworkKCNA1
Wikipedia pathwaysKCNA1
Orthology - Evolution
OrthoDB3736
GeneTree (enSembl)ENSG00000111262
Phylogenetic Trees/Animal Genes : TreeFamKCNA1
Homologs : HomoloGeneKCNA1
Homology/Alignments : Family Browser (UCSC)KCNA1
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerKCNA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNA1
dbVarKCNA1
ClinVarKCNA1
1000_GenomesKCNA1 
Exome Variant ServerKCNA1
ExAC (Exome Aggregation Consortium)KCNA1 (select the gene name)
Genetic variants : HAPMAP3736
Genomic Variants (DGV)KCNA1 [DGVbeta]
Mutations
ICGC Data PortalKCNA1 
TCGA Data PortalKCNA1 
Broad Tumor PortalKCNA1
OASIS PortalKCNA1 [ Somatic mutations - Copy number]
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
BioMutasearch KCNA1
DgiDB (Drug Gene Interaction Database)KCNA1
DoCM (Curated mutations)KCNA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNA1 (select a term)
intoGenKCNA1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)12:5019073-5027422  ENSG00000111262
CONAN: Copy Number AnalysisKCNA1 
Mutations and Diseases : HGMDKCNA1
OMIM160120    176260   
MedgenKCNA1
Genetic Testing Registry KCNA1
NextProtQ09470 [Medical]
TSGene3736
GENETestsKCNA1
Huge Navigator KCNA1 [HugePedia]
snp3D : Map Gene to Disease3736
BioCentury BCIQKCNA1
ClinGenKCNA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3736
Chemical/Pharm GKB GenePA30019
Clinical trialKCNA1
Miscellaneous
canSAR (ICR)KCNA1 (select the gene name)
Probes
Litterature
PubMed65 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNA1
EVEXKCNA1
GoPubMedKCNA1
iHOPKCNA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 19 18:55:52 CEST 2016

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.