Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   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

KCNN1 (potassium calcium-activated channel subfamily N member 1)

Identity

Alias_namespotassium intermediate/small conductance calcium-activated channel, subfamily N, member 1
potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 1
Alias_symbol (synonym)KCa2.1
hSK1
Other aliasSK1
SKCA1
HGNC (Hugo) KCNN1
LocusID (NCBI) 3780
Atlas_Id 54397
Location 19p13.11  [Link to chromosome band 19p13]
Location_base_pair Starts at 17951302 and ends at 17999121 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ARRDC2 (19p13.11) / KCNN1 (19p13.11)DNM2 (19p13.2) / KCNN1 (19p13.11)FAM53B (10q26.13) / KCNN1 (19p13.11)
KCNN1 (19p13.11) / SLC27A1 (19p13.11)ARRDC2 19p13.11 / KCNN1 19p13.11FAM53B 10q26.13 / KCNN1 19p13.11
KCNN1 19p13.11 / SLC27A1 19p13.11

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) [ 1 ]
  Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)KCNN1   6290
Cards
Entrez_Gene (NCBI)KCNN1  3780  potassium calcium-activated channel subfamily N member 1
AliasesKCa2.1; SK1; SKCA1; hSK1
GeneCards (Weizmann)KCNN1
Ensembl hg19 (Hinxton)ENSG00000105642 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000105642 [Gene_View]  chr19:17951302-17999121 [Contig_View]  KCNN1 [Vega]
ICGC DataPortalENSG00000105642
TCGA cBioPortalKCNN1
AceView (NCBI)KCNN1
Genatlas (Paris)KCNN1
WikiGenes3780
SOURCE (Princeton)KCNN1
Genetics Home Reference (NIH)KCNN1
Genomic and cartography
GoldenPath hg38 (UCSC)KCNN1  -     chr19:17951302-17999121 +  19p13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNN1  -     19p13.11   [Description]    (hg19-Feb_2009)
EnsemblKCNN1 - 19p13.11 [CytoView hg19]  KCNN1 - 19p13.11 [CytoView hg38]
Mapping of homologs : NCBIKCNN1 [Mapview hg19]  KCNN1 [Mapview hg38]
OMIM602982   
Gene and transcription
Genbank (Entrez)AB198191 AK298170 AW594619 BC075037 BE504989
RefSeq transcript (Entrez)NM_002248
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCNN1
Cluster EST : UnigeneHs.158173 [ NCBI ]
CGAP (NCI)Hs.158173
Alternative Splicing GalleryENSG00000105642
Gene ExpressionKCNN1 [ NCBI-GEO ]   KCNN1 [ EBI - ARRAY_EXPRESS ]   KCNN1 [ SEEK ]   KCNN1 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3780
GTEX Portal (Tissue expression)KCNN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92952   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92952  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92952
Splice isoforms : SwissVarQ92952
PhosPhoSitePlusQ92952
Domains : Interpro (EBI)CaM-bd_dom    K_chnl_Ca-activ_SK    K_chnl_dom   
Domain families : Pfam (Sanger)CaMBD (PF02888)    Ion_trans_2 (PF07885)    SK_channel (PF03530)   
Domain families : Pfam (NCBI)pfam02888    pfam07885    pfam03530   
Domain families : Smart (EMBL)CaMBD (SM01053)  
Conserved Domain (NCBI)KCNN1
DMDM Disease mutations3780
Blocks (Seattle)KCNN1
SuperfamilyQ92952
Human Protein AtlasENSG00000105642
Peptide AtlasQ92952
HPRD04282
IPIIPI00827551   IPI00218812   
Protein Interaction databases
DIP (DOE-UCLA)Q92952
IntAct (EBI)Q92952
FunCoupENSG00000105642
BioGRIDKCNN1
STRING (EMBL)KCNN1
ZODIACKCNN1
Ontologies - Pathways
QuickGOQ92952
Ontology : AmiGOcalmodulin binding  plasma membrane  potassium ion transport  chemical synaptic transmission  voltage-gated potassium channel complex  calcium-activated potassium channel activity  small conductance calcium-activated potassium channel activity  neuronal cell body  protein heterodimerization activity  potassium ion transmembrane transport  
Ontology : EGO-EBIcalmodulin binding  plasma membrane  potassium ion transport  chemical synaptic transmission  voltage-gated potassium channel complex  calcium-activated potassium channel activity  small conductance calcium-activated potassium channel activity  neuronal cell body  protein heterodimerization activity  potassium ion transmembrane transport  
Pathways : KEGGInsulin secretion   
NDEx NetworkKCNN1
Atlas of Cancer Signalling NetworkKCNN1
Wikipedia pathwaysKCNN1
Orthology - Evolution
OrthoDB3780
GeneTree (enSembl)ENSG00000105642
Phylogenetic Trees/Animal Genes : TreeFamKCNN1
HOVERGENQ92952
HOGENOMQ92952
Homologs : HomoloGeneKCNN1
Homology/Alignments : Family Browser (UCSC)KCNN1
Gene fusions - Rearrangements
Fusion : MitelmanARRDC2/KCNN1 [19p13.11/19p13.11]  [t(19;19)(p13;p13)]  
Fusion : MitelmanDNM2/KCNN1 [19p13.2/19p13.11]  [del(19)(p13p13)]  
Fusion : MitelmanFAM53B/KCNN1 [10q26.13/19p13.11]  [t(10;19)(q26;p13)]  
Fusion : MitelmanKCNN1/SLC27A1 [19p13.11/19p13.11]  [t(19;19)(p13;p13)]  
Fusion: TCGAARRDC2 19p13.11 KCNN1 19p13.11 OV
Fusion: TCGAFAM53B 10q26.13 KCNN1 19p13.11 LUAD
Fusion: TCGAKCNN1 19p13.11 SLC27A1 19p13.11 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNN1
dbVarKCNN1
ClinVarKCNN1
1000_GenomesKCNN1 
Exome Variant ServerKCNN1
ExAC (Exome Aggregation Consortium)KCNN1 (select the gene name)
Genetic variants : HAPMAP3780
Genomic Variants (DGV)KCNN1 [DGVbeta]
DECIPHERKCNN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNN1 
Mutations
ICGC Data PortalKCNN1 
TCGA Data PortalKCNN1 
Broad Tumor PortalKCNN1
OASIS PortalKCNN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKCNN1
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 KCNN1
DgiDB (Drug Gene Interaction Database)KCNN1
DoCM (Curated mutations)KCNN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNN1 (select a term)
intoGenKCNN1
Cancer3DKCNN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602982   
Orphanet
MedgenKCNN1
Genetic Testing Registry KCNN1
NextProtQ92952 [Medical]
TSGene3780
GENETestsKCNN1
Target ValidationKCNN1
Huge Navigator KCNN1 [HugePedia]
snp3D : Map Gene to Disease3780
BioCentury BCIQKCNN1
ClinGenKCNN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3780
Chemical/Pharm GKB GenePA30070
Clinical trialKCNN1
Miscellaneous
canSAR (ICR)KCNN1 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNN1
EVEXKCNN1
GoPubMedKCNN1
iHOPKCNN1
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 : Wed Jun 7 12:39:19 CEST 2017

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

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.