Atlas of Genetics and Cytogenetics in Oncology and Haematology

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KCNU1 (potassium calcium-activated channel subfamily U member 1)

Identity

Alias_namespotassium channel
Alias_symbol (synonym)KCa5.1
Slo3
KCNMC1
Kcnma3
Other aliasKCa5
HGNC (Hugo) KCNU1
LocusID (NCBI) 157855
Atlas_Id 54399
Location 8p11.23  [Link to chromosome band 8p11]
Location_base_pair Starts at 36784324 and ends at 36936126 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)
LETM2 (8p11.23) / KCNU1 (8p11.23)PLEKHA2 (8p11.22) / KCNU1 (8p11.23)RAB11FIP1 (8p11.23) / KCNU1 (8p11.23)
PLEKHA2 8p11.22 / KCNU1 8p11.23RAB11FIP1 8p11.23 / KCNU1 8p11.23

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  Lung: Translocations in Squamous Cell Carcinoma
PLEKHA2/KCNU1 (8p11)
RAB11FIP1/KCNU1 (8p11)
LETM2/KCNU1 (8p11)

External links

Nomenclature
HGNC (Hugo)KCNU1   18867
Cards
Entrez_Gene (NCBI)KCNU1  157855  potassium calcium-activated channel subfamily U member 1
AliasesKCNMC1; KCa5; KCa5.1; Kcnma3; 
Slo3
GeneCards (Weizmann)KCNU1
Ensembl hg19 (Hinxton)ENSG00000215262 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000215262 [Gene_View]  ENSG00000215262 [Sequence]  chr8:36784324-36936126 [Contig_View]  KCNU1 [Vega]
ICGC DataPortalENSG00000215262
TCGA cBioPortalKCNU1
AceView (NCBI)KCNU1
Genatlas (Paris)KCNU1
WikiGenes157855
SOURCE (Princeton)KCNU1
Genetics Home Reference (NIH)KCNU1
Genomic and cartography
GoldenPath hg38 (UCSC)KCNU1  -     chr8:36784324-36936126 +  8p11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNU1  -     8p11.23   [Description]    (hg19-Feb_2009)
EnsemblKCNU1 - 8p11.23 [CytoView hg19]  KCNU1 - 8p11.23 [CytoView hg38]
Mapping of homologs : NCBIKCNU1 [Mapview hg19]  KCNU1 [Mapview hg38]
OMIM615215   
Gene and transcription
Genbank (Entrez)AK302391 BC028701 DB089392 DC401954
RefSeq transcript (Entrez)NM_001031836
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCNU1
Cluster EST : UnigeneHs.13861 [ NCBI ]
CGAP (NCI)Hs.13861
Alternative Splicing GalleryENSG00000215262
Gene ExpressionKCNU1 [ NCBI-GEO ]   KCNU1 [ EBI - ARRAY_EXPRESS ]   KCNU1 [ SEEK ]   KCNU1 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNU1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)157855
GTEX Portal (Tissue expression)KCNU1
Human Protein AtlasENSG00000215262-KCNU1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtA8MYU2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA8MYU2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA8MYU2
Splice isoforms : SwissVarA8MYU2
PhosPhoSitePlusA8MYU2
Domains : Interpro (EBI)Ion_trans_dom    K_chnl_BK_asu    Volt_channel_dom_sf   
Domain families : Pfam (Sanger)BK_channel_a (PF03493)    Ion_trans (PF00520)   
Domain families : Pfam (NCBI)pfam03493    pfam00520   
Conserved Domain (NCBI)KCNU1
DMDM Disease mutations157855
Blocks (Seattle)KCNU1
PDB (RSDB)4HPF   
PDB Europe4HPF   
PDB (PDBSum)4HPF   
PDB (IMB)4HPF   
Structural Biology KnowledgeBase4HPF   
SCOP (Structural Classification of Proteins)4HPF   
CATH (Classification of proteins structures)4HPF   
SuperfamilyA8MYU2
Human Protein Atlas [tissue]ENSG00000215262-KCNU1 [tissue]
Peptide AtlasA8MYU2
IPIIPI00643301   IPI00983835   IPI01010754   IPI00974166   IPI00792832   
Protein Interaction databases
DIP (DOE-UCLA)A8MYU2
IntAct (EBI)A8MYU2
FunCoupENSG00000215262
BioGRIDKCNU1
STRING (EMBL)KCNU1
ZODIACKCNU1
Ontologies - Pathways
QuickGOA8MYU2
Ontology : AmiGOpotassium channel activity  plasma membrane  plasma membrane  calcium-activated potassium channel activity  outward rectifier potassium channel activity  integral component of membrane  reproductive process  regulation of ion transmembrane transport  sperm-egg recognition  regulation of membrane potential  large conductance calcium-activated potassium channel activity  potassium ion transmembrane transport  
Ontology : EGO-EBIpotassium channel activity  plasma membrane  plasma membrane  calcium-activated potassium channel activity  outward rectifier potassium channel activity  integral component of membrane  reproductive process  regulation of ion transmembrane transport  sperm-egg recognition  regulation of membrane potential  large conductance calcium-activated potassium channel activity  potassium ion transmembrane transport  
Pathways : KEGGVascular smooth muscle contraction    Insulin secretion   
NDEx NetworkKCNU1
Atlas of Cancer Signalling NetworkKCNU1
Wikipedia pathwaysKCNU1
Orthology - Evolution
OrthoDB157855
GeneTree (enSembl)ENSG00000215262
Phylogenetic Trees/Animal Genes : TreeFamKCNU1
HOGENOMA8MYU2
Homologs : HomoloGeneKCNU1
Homology/Alignments : Family Browser (UCSC)KCNU1
Gene fusions - Rearrangements
Fusion : MitelmanLETM2/KCNU1 [8p11.23/8p11.23]  [t(8;8)(p11;p11)]  
Fusion : MitelmanPLEKHA2/KCNU1 [8p11.22/8p11.23]  [t(8;8)(p11;p11)]  
Fusion : MitelmanRAB11FIP1/KCNU1 [8p11.23/8p11.23]  [t(8;8)(p11;p11)]  
Fusion PortalPLEKHA2 8p11.22 KCNU1 8p11.23 BRCA
Fusion PortalRAB11FIP1 8p11.23 KCNU1 8p11.23 BLCA
Fusion : QuiverKCNU1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNU1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNU1
dbVarKCNU1
ClinVarKCNU1
1000_GenomesKCNU1 
Exome Variant ServerKCNU1
ExAC (Exome Aggregation Consortium)ENSG00000215262
GNOMAD BrowserENSG00000215262
Varsome BrowserKCNU1
Genetic variants : HAPMAP157855
Genomic Variants (DGV)KCNU1 [DGVbeta]
DECIPHERKCNU1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNU1 
Mutations
ICGC Data PortalKCNU1 
TCGA Data PortalKCNU1 
Broad Tumor PortalKCNU1
OASIS PortalKCNU1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNU1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKCNU1
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 KCNU1
DgiDB (Drug Gene Interaction Database)KCNU1
DoCM (Curated mutations)KCNU1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNU1 (select a term)
intoGenKCNU1
Cancer3DKCNU1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615215   
Orphanet
DisGeNETKCNU1
MedgenKCNU1
Genetic Testing Registry KCNU1
NextProtA8MYU2 [Medical]
TSGene157855
GENETestsKCNU1
Target ValidationKCNU1
Huge Navigator KCNU1 [HugePedia]
snp3D : Map Gene to Disease157855
BioCentury BCIQKCNU1
ClinGenKCNU1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD157855
Chemical/Pharm GKB GenePA38727
Clinical trialKCNU1
Miscellaneous
canSAR (ICR)KCNU1 (select the gene name)
DataMed IndexKCNU1
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNU1
EVEXKCNU1
GoPubMedKCNU1
iHOPKCNU1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Feb 14 16:37:17 CET 2019
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