Atlas of Genetics and Cytogenetics in Oncology and Haematology

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KCNMA1 (potassium calcium-activated channel subfamily M alpha 1)

Identity

Alias (NCBI)BKTM
CADEDS
IEG16
KCa1.1
LIWAS
MaxiK
PNKD3
SAKCA
SLO
SLO-ALPHA
SLO1
bA205K10.1
hSlo
mSLO1
HGNC (Hugo) KCNMA1
HGNC Alias symbKCa1.1
mSLO1
HGNC Alias nameBK channel alpha subunit
 maxiK channel
 big potassium channel alpha subunit
HGNC Previous nameSLO
HGNC Previous namepotassium large conductance calcium-activated channel, subfamily M, alpha member 1
 potassium channel, calcium activated large conductance subfamily M alpha, member 1
LocusID (NCBI) 3778
Atlas_Id 47553
Location 10q22.3  [Link to chromosome band 10q22]
Location_base_pair Starts at 76884883 and ends at 77637808 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)
ABCA1 (9q31.1) / KCNMA1 (10q22.3)ADK (10q22.2) / KCNMA1 (10q22.3)CPM (12q15) / KCNMA1 (10q22.3)
FAM149B1 (10q22.2) / KCNMA1 (10q22.3)FRMPD4 (Xp22.2) / KCNMA1 (10q22.3)KCNMA1 (10q22.3) / DCC (18q21.2)
KCNMA1 (10q22.3) / DLG5 (10q22.3)KCNMA1 (10q22.3) / ECD (10q22.1)KCNMA1 (10q22.3) / FAM134C (17q21.2)
KCNMA1 (10q22.3) / KCNMA1 (10q22.3)KCNMA1 (10q22.3) / LHFPL2 (5q14.1)KCNMA1 (10q22.3) / MSMB (10q11.23)
KCNMA1 (10q22.3) / SMARCA2 (9p24.3)KCNMA1 (10q22.3) / XAB2 (19p13.2)MTA3 (2p21) / KCNMA1 (10q22.3)
RUNX1 (21q22.12) / KCNMA1 (10q22.3)ADK 10q22.2 / KCNMA1 10q22.3CPM 12q15 / KCNMA1 10q22.3
FAM149B1 10q22.2 / KCNMA1 10q22.3KCNMA1 10q22.3 / DLG5 10q22.3KCNMA1 10q22.3 / ECD 10q22.1
KCNMA1 10q22.3 / MSMB 10q11.23

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(10;21)(q22;q22) RUNX1/KCNMA1

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 6 ]
  t(10;10)(q11;q22) KCNMA1/MSMB
ADK/KCNMA1 (10q22)
FAM149B1/KCNMA1 (10q22)
KCNMA1/DLG5 (10q22)
KCNMA1/ECD (10q22)
t(10;12)(q22;q15) CPM/KCNMA1

External links

Nomenclature
HGNC (Hugo)KCNMA1   6284
Cards
Entrez_Gene (NCBI)KCNMA1  3778  potassium calcium-activated channel subfamily M alpha 1
AliasesBKTM; CADEDS; IEG16; KCa1.1; 
LIWAS; MaxiK; PNKD3; SAKCA; SLO; SLO-ALPHA; SLO1; bA205K10.1; hSlo; mSLO1
GeneCards (Weizmann)KCNMA1
Ensembl hg19 (Hinxton)ENSG00000156113 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000156113 [Gene_View]  ENSG00000156113 [Sequence]  chr10:76884883-77637808 [Contig_View]  KCNMA1 [Vega]
ICGC DataPortalENSG00000156113
TCGA cBioPortalKCNMA1
AceView (NCBI)KCNMA1
Genatlas (Paris)KCNMA1
WikiGenes3778
SOURCE (Princeton)KCNMA1
Genetics Home Reference (NIH)KCNMA1
Genomic and cartography
GoldenPath hg38 (UCSC)KCNMA1  -     chr10:76884883-77637808 -  10q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNMA1  -     10q22.3   [Description]    (hg19-Feb_2009)
GoldenPathKCNMA1 - 10q22.3 [CytoView hg19]  KCNMA1 - 10q22.3 [CytoView hg38]
ImmunoBaseENSG00000156113
genome Data Viewer NCBIKCNMA1 [Mapview hg19]  
OMIM600150   609446   617643   618596   618729   
Gene and transcription
Genbank (Entrez)AB113382 AB113575 AB209488 AB524033 AF025999
RefSeq transcript (Entrez)NM_001014797 NM_001161352 NM_001161353 NM_001271518 NM_001271519 NM_001271520 NM_001271521 NM_001271522 NM_001322829 NM_001322830 NM_001322832 NM_001322835 NM_001322836 NM_001322837 NM_001322838 NM_001322839 NM_002247
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCNMA1
Alternative Splicing GalleryENSG00000156113
Gene ExpressionKCNMA1 [ NCBI-GEO ]   KCNMA1 [ EBI - ARRAY_EXPRESS ]   KCNMA1 [ SEEK ]   KCNMA1 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNMA1 [ Firebrowse - Broad ]
GenevisibleExpression of KCNMA1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3778
GTEX Portal (Tissue expression)KCNMA1
Human Protein AtlasENSG00000156113-KCNMA1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ12791   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ12791  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ12791
Splice isoforms : SwissVarQ12791
PhosPhoSitePlusQ12791
Domains : Interpro (EBI)Ca-act_K_channel_Slo-1    Ion_trans_dom    K_chnl_BK_asu    NAD(P)-bd_dom_sf    Volt_channel_dom_sf   
Domain families : Pfam (Sanger)BK_channel_a (PF03493)    Ion_trans (PF00520)   
Domain families : Pfam (NCBI)pfam03493    pfam00520   
Conserved Domain (NCBI)KCNMA1
DMDM Disease mutations3778
Blocks (Seattle)KCNMA1
PDB (RSDB)2K44    3MT5    3NAF    6V22    6V35    6V38    6V3G   
PDB Europe2K44    3MT5    3NAF    6V22    6V35    6V38    6V3G   
PDB (PDBSum)2K44    3MT5    3NAF    6V22    6V35    6V38    6V3G   
PDB (IMB)2K44    3MT5    3NAF    6V22    6V35    6V38    6V3G   
Structural Biology KnowledgeBase2K44    3MT5    3NAF    6V22    6V35    6V38    6V3G   
SCOP (Structural Classification of Proteins)2K44    3MT5    3NAF    6V22    6V35    6V38    6V3G   
CATH (Classification of proteins structures)2K44    3MT5    3NAF    6V22    6V35    6V38    6V3G   
SuperfamilyQ12791
Human Protein Atlas [tissue]ENSG00000156113-KCNMA1 [tissue]
Peptide AtlasQ12791
HPRD15967
IPIIPI00410168   IPI00410169   IPI00164387   IPI00410172   IPI00410173   IPI00426186   IPI01018977   IPI00410170   IPI00980408   IPI00478411   IPI01011414   IPI00942725   IPI00642051   IPI00642598   IPI00644663   IPI00903205   IPI00645778   IPI00553197   IPI00552812   
Protein Interaction databases
DIP (DOE-UCLA)Q12791
IntAct (EBI)Q12791
FunCoupENSG00000156113
BioGRIDKCNMA1
STRING (EMBL)KCNMA1
ZODIACKCNMA1
Ontologies - Pathways
QuickGOQ12791
Ontology : AmiGOresponse to hypoxia  actin binding  voltage-gated potassium channel activity  voltage-gated potassium channel activity  protein binding  plasma membrane  caveola  potassium ion transport  response to osmotic stress  voltage-gated potassium channel complex  calcium-activated potassium channel activity  calcium-activated potassium channel activity  integral component of membrane  apical plasma membrane  cellular potassium ion homeostasis  response to carbon monoxide  response to carbon monoxide  regulation of ion transmembrane transport  regulation of membrane potential  positive regulation of apoptotic process  postsynaptic membrane  negative regulation of cell volume  metal ion binding  response to calcium ion  large conductance calcium-activated potassium channel activity  large conductance calcium-activated potassium channel activity  large conductance calcium-activated potassium channel activity  micturition  smooth muscle contraction involved in micturition  relaxation of vascular smooth muscle  potassium ion transmembrane transport  
Ontology : EGO-EBIresponse to hypoxia  actin binding  voltage-gated potassium channel activity  voltage-gated potassium channel activity  protein binding  plasma membrane  caveola  potassium ion transport  response to osmotic stress  voltage-gated potassium channel complex  calcium-activated potassium channel activity  calcium-activated potassium channel activity  integral component of membrane  apical plasma membrane  cellular potassium ion homeostasis  response to carbon monoxide  response to carbon monoxide  regulation of ion transmembrane transport  regulation of membrane potential  positive regulation of apoptotic process  postsynaptic membrane  negative regulation of cell volume  metal ion binding  response to calcium ion  large conductance calcium-activated potassium channel activity  large conductance calcium-activated potassium channel activity  large conductance calcium-activated potassium channel activity  micturition  smooth muscle contraction involved in micturition  relaxation of vascular smooth muscle  potassium ion transmembrane transport  
Pathways : KEGGVascular smooth muscle contraction    Insulin secretion    Salivary secretion    Pancreatic secretion   
NDEx NetworkKCNMA1
Atlas of Cancer Signalling NetworkKCNMA1
Wikipedia pathwaysKCNMA1
Orthology - Evolution
OrthoDB3778
GeneTree (enSembl)ENSG00000156113
Phylogenetic Trees/Animal Genes : TreeFamKCNMA1
HOGENOMQ12791
Homologs : HomoloGeneKCNMA1
Homology/Alignments : Family Browser (UCSC)KCNMA1
Gene fusions - Rearrangements
Fusion : MitelmanADK/KCNMA1 [10q22.2/10q22.3]  
Fusion : MitelmanCPM/KCNMA1 [12q15/10q22.3]  
Fusion : MitelmanFAM149B1/KCNMA1 [10q22.2/10q22.3]  
Fusion : MitelmanKCNMA1/DLG5 [10q22.3/10q22.3]  
Fusion : MitelmanKCNMA1/ECD [10q22.3/10q22.1]  
Fusion : MitelmanKCNMA1/MSMB [10q22.3/10q11.23]  
Fusion : MitelmanRUNX1/KCNMA1 [21q22.12/10q22.3]  
Fusion PortalADK 10q22.2 KCNMA1 10q22.3 BRCA PRAD
Fusion PortalCPM 12q15 KCNMA1 10q22.3 BRCA
Fusion PortalFAM149B1 10q22.2 KCNMA1 10q22.3 BRCA
Fusion PortalKCNMA1 10q22.3 DLG5 10q22.3 BRCA OV
Fusion PortalKCNMA1 10q22.3 ECD 10q22.1 BRCA
Fusion PortalKCNMA1 10q22.3 MSMB 10q11.23 BRCA
Fusion : QuiverKCNMA1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNMA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNMA1
dbVarKCNMA1
ClinVarKCNMA1
MonarchKCNMA1
1000_GenomesKCNMA1 
Exome Variant ServerKCNMA1
GNOMAD BrowserENSG00000156113
Varsome BrowserKCNMA1
Genetic variants : HAPMAP3778
Genomic Variants (DGV)KCNMA1 [DGVbeta]
DECIPHERKCNMA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNMA1 
Mutations
ICGC Data PortalKCNMA1 
TCGA Data PortalKCNMA1 
Broad Tumor PortalKCNMA1
OASIS PortalKCNMA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNMA1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DKCNMA1
Mutations and Diseases : HGMDKCNMA1
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 KCNMA1
DgiDB (Drug Gene Interaction Database)KCNMA1
DoCM (Curated mutations)KCNMA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNMA1 (select a term)
intoGenKCNMA1
Cancer3DKCNMA1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600150    609446    617643    618596    618729   
Orphanet11163   
DisGeNETKCNMA1
MedgenKCNMA1
Genetic Testing Registry KCNMA1
NextProtQ12791 [Medical]
TSGene3778
GENETestsKCNMA1
Target ValidationKCNMA1
Huge Navigator KCNMA1 [HugePedia]
snp3D : Map Gene to Disease3778
BioCentury BCIQKCNMA1
ClinGenKCNMA1
Clinical trials, drugs, therapy
Protein Interactions : CTD3778
Pharm GKB GenePA220
Clinical trialKCNMA1
Miscellaneous
canSAR (ICR)KCNMA1 (select the gene name)
HarmonizomeKCNMA1
DataMed IndexKCNMA1
Probes
Litterature
PubMed204 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNMA1
EVEXKCNMA1
GoPubMedKCNMA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Sep 14 14:16:38 CEST 2020
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