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KCNT1 (potassium sodium-activated channel subfamily T member 1)

Identity

Alias_namespotassium channel, subfamily T, member 1
potassium channel, sodium activated subfamily T, member 1
Alias_symbol (synonym)KCa4.1
KIAA1422
SLACK
Slo2.2
Other aliasEIEE14
ENFL5
bA100C15.2
HGNC (Hugo) KCNT1
LocusID (NCBI) 57582
Atlas_Id 56032
Location 9q34.3  [Link to chromosome band 9q34]
Location_base_pair Starts at 135702185 and ends at 135793147 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)
CAMSAP1 (9q34.3) / KCNT1 (9q34.3)TRUB2 (9q34.11) / KCNT1 (9q34.3)

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)KCNT1   18865
Cards
Entrez_Gene (NCBI)KCNT1  57582  potassium sodium-activated channel subfamily T member 1
AliasesEIEE14; ENFL5; KCa4.1; SLACK; 
Slo2.2; bA100C15.2
GeneCards (Weizmann)KCNT1
Ensembl hg19 (Hinxton)ENSG00000107147 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000107147 [Gene_View]  chr9:135702185-135793147 [Contig_View]  KCNT1 [Vega]
ICGC DataPortalENSG00000107147
TCGA cBioPortalKCNT1
AceView (NCBI)KCNT1
Genatlas (Paris)KCNT1
WikiGenes57582
SOURCE (Princeton)KCNT1
Genetics Home Reference (NIH)KCNT1
Genomic and cartography
GoldenPath hg38 (UCSC)KCNT1  -     chr9:135702185-135793147 +  9q34.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNT1  -     9q34.3   [Description]    (hg19-Feb_2009)
EnsemblKCNT1 - 9q34.3 [CytoView hg19]  KCNT1 - 9q34.3 [CytoView hg38]
Mapping of homologs : NCBIKCNT1 [Mapview hg19]  KCNT1 [Mapview hg38]
OMIM608167   614959   615005   
Gene and transcription
Genbank (Entrez)AB037843 AK123276 AK124588 AK127272 BC136618
RefSeq transcript (Entrez)NM_001272003 NM_020822
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCNT1
Cluster EST : UnigeneHs.104950 [ NCBI ]
CGAP (NCI)Hs.104950
Alternative Splicing GalleryENSG00000107147
Gene ExpressionKCNT1 [ NCBI-GEO ]   KCNT1 [ EBI - ARRAY_EXPRESS ]   KCNT1 [ SEEK ]   KCNT1 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57582
GTEX Portal (Tissue expression)KCNT1
Human Protein AtlasENSG00000107147-KCNT1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5JUK3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5JUK3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5JUK3
Splice isoforms : SwissVarQ5JUK3
PhosPhoSitePlusQ5JUK3
Domains : Interpro (EBI)K_chnl_BK_asu    K_chnl_dom    NAD(P)-bd_dom   
Domain families : Pfam (Sanger)BK_channel_a (PF03493)    Ion_trans_2 (PF07885)   
Domain families : Pfam (NCBI)pfam03493    pfam07885   
Conserved Domain (NCBI)KCNT1
DMDM Disease mutations57582
Blocks (Seattle)KCNT1
SuperfamilyQ5JUK3
Human Protein Atlas [tissue]ENSG00000107147-KCNT1 [tissue]
Peptide AtlasQ5JUK3
IPIIPI00143205   IPI00980517   IPI00103430   IPI00946359   IPI00947342   IPI00945875   IPI00945462   IPI00947538   IPI00945684   
Protein Interaction databases
DIP (DOE-UCLA)Q5JUK3
IntAct (EBI)Q5JUK3
FunCoupENSG00000107147
BioGRIDKCNT1
STRING (EMBL)KCNT1
ZODIACKCNT1
Ontologies - Pathways
QuickGOQ5JUK3
Ontology : AmiGOvoltage-gated potassium channel activity  voltage-gated potassium channel complex  calcium-activated potassium channel activity  potassium ion transmembrane transport  
Ontology : EGO-EBIvoltage-gated potassium channel activity  voltage-gated potassium channel complex  calcium-activated potassium channel activity  potassium ion transmembrane transport  
NDEx NetworkKCNT1
Atlas of Cancer Signalling NetworkKCNT1
Wikipedia pathwaysKCNT1
Orthology - Evolution
OrthoDB57582
GeneTree (enSembl)ENSG00000107147
Phylogenetic Trees/Animal Genes : TreeFamKCNT1
HOVERGENQ5JUK3
HOGENOMQ5JUK3
Homologs : HomoloGeneKCNT1
Homology/Alignments : Family Browser (UCSC)KCNT1
Gene fusions - Rearrangements
Tumor Fusion PortalKCNT1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNT1
dbVarKCNT1
ClinVarKCNT1
1000_GenomesKCNT1 
Exome Variant ServerKCNT1
ExAC (Exome Aggregation Consortium)ENSG00000107147
GNOMAD BrowserENSG00000107147
Genetic variants : HAPMAP57582
Genomic Variants (DGV)KCNT1 [DGVbeta]
DECIPHERKCNT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNT1 
Mutations
ICGC Data PortalKCNT1 
TCGA Data PortalKCNT1 
Broad Tumor PortalKCNT1
OASIS PortalKCNT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKCNT1
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch KCNT1
DgiDB (Drug Gene Interaction Database)KCNT1
DoCM (Curated mutations)KCNT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNT1 (select a term)
intoGenKCNT1
Cancer3DKCNT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608167    614959    615005   
Orphanet20841    13801   
DisGeNETKCNT1
MedgenKCNT1
Genetic Testing Registry KCNT1
NextProtQ5JUK3 [Medical]
TSGene57582
GENETestsKCNT1
Target ValidationKCNT1
Huge Navigator KCNT1 [HugePedia]
snp3D : Map Gene to Disease57582
BioCentury BCIQKCNT1
ClinGenKCNT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57582
Chemical/Pharm GKB GenePA38725
Clinical trialKCNT1
Miscellaneous
canSAR (ICR)KCNT1 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNT1
EVEXKCNT1
GoPubMedKCNT1
iHOPKCNT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:18:41 CET 2017

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