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ATP1B1 (ATPase Na+/K+ transporting subunit beta 1)

Identity

Alias_namesATP1B
ATPase
Other alias
HGNC (Hugo) ATP1B1
LocusID (NCBI) 481
Atlas_Id 43838
Location 1q24.2  [Link to chromosome band 1q24]
Location_base_pair Starts at 169106709 and ends at 169132722 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)
ATP1B1 (1q24.2) / ARAP1 (11q13.4)ATP1B1 (1q24.2) / ATP1B1 (1q24.2)ATP1B1 (1q24.2) / RCSD1 (1q24.2)
CSRNP2 (12q13.12) / ATP1B1 (1q24.2)TBC1D16 (17q25.3) / ATP1B1 (1q24.2)ATP1B1 1q24.2 / RCSD1 1q24.2

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 ]
  t(1;1)(q24;q24) ATP1B1/RCSD1

External links

Nomenclature
HGNC (Hugo)ATP1B1   804
Cards
Entrez_Gene (NCBI)ATP1B1  481  ATPase Na+/K+ transporting subunit beta 1
AliasesATP1B
GeneCards (Weizmann)ATP1B1
Ensembl hg19 (Hinxton)ENSG00000143153 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143153 [Gene_View]  ENSG00000143153 [Sequence]  chr1:169106709-169132722 [Contig_View]  ATP1B1 [Vega]
ICGC DataPortalENSG00000143153
TCGA cBioPortalATP1B1
AceView (NCBI)ATP1B1
Genatlas (Paris)ATP1B1
WikiGenes481
SOURCE (Princeton)ATP1B1
Genetics Home Reference (NIH)ATP1B1
Genomic and cartography
GoldenPath hg38 (UCSC)ATP1B1  -     chr1:169106709-169132722 +  1q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP1B1  -     1q24.2   [Description]    (hg19-Feb_2009)
EnsemblATP1B1 - 1q24.2 [CytoView hg19]  ATP1B1 - 1q24.2 [CytoView hg38]
Mapping of homologs : NCBIATP1B1 [Mapview hg19]  ATP1B1 [Mapview hg38]
OMIM145500   182330   
Gene and transcription
Genbank (Entrez)AA507932 AA514770 AK290181 AK296059 AK316043
RefSeq transcript (Entrez)NM_001001787 NM_001677
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP1B1
Cluster EST : UnigeneHs.291196 [ NCBI ]
CGAP (NCI)Hs.291196
Alternative Splicing GalleryENSG00000143153
Gene ExpressionATP1B1 [ NCBI-GEO ]   ATP1B1 [ EBI - ARRAY_EXPRESS ]   ATP1B1 [ SEEK ]   ATP1B1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP1B1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)481
GTEX Portal (Tissue expression)ATP1B1
Human Protein AtlasENSG00000143153-ATP1B1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP05026   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP05026  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP05026
Splice isoforms : SwissVarP05026
PhosPhoSitePlusP05026
Domaine pattern : Prosite (Expaxy)ATPASE_NA_K_BETA_1 (PS00390)    ATPASE_NA_K_BETA_2 (PS00391)   
Domains : Interpro (EBI)Na/K_ATPase_sub_beta    Na/K_ATPase_sub_beta_chordates   
Domain families : Pfam (Sanger)Na_K-ATPase (PF00287)   
Domain families : Pfam (NCBI)pfam00287   
Conserved Domain (NCBI)ATP1B1
DMDM Disease mutations481
Blocks (Seattle)ATP1B1
SuperfamilyP05026
Human Protein Atlas [tissue]ENSG00000143153-ATP1B1 [tissue]
Peptide AtlasP05026
HPRD01663
IPIIPI00747849   IPI00871221   IPI01009449   
Protein Interaction databases
DIP (DOE-UCLA)P05026
IntAct (EBI)P05026
FunCoupENSG00000143153
BioGRIDATP1B1
STRING (EMBL)ATP1B1
ZODIACATP1B1
Ontologies - Pathways
QuickGOP05026
Ontology : AmiGOresponse to hypoxia  ATPase activator activity  sodium:potassium-exchanging ATPase activity  sodium:potassium-exchanging ATPase activity  protein binding  ATP binding  intracellular  plasma membrane  plasma membrane  sodium:potassium-exchanging ATPase complex  sodium:potassium-exchanging ATPase complex  caveola  cellular calcium ion homeostasis  cellular sodium ion homeostasis  cell adhesion  protein C-terminus binding  drug binding  potassium ion import  establishment or maintenance of transmembrane electrochemical gradient  regulation of gene expression  regulation of cardiac muscle contraction by calcium ion signaling  intercalated disc  membrane  basolateral plasma membrane  apical plasma membrane  ATPase activity  protein kinase binding  MHC class II protein complex binding  cellular potassium ion homeostasis  potassium ion binding  sodium ion binding  positive regulation of ATPase activity  ion transmembrane transport  sodium ion export across plasma membrane  sodium ion export across plasma membrane  sarcolemma  myelin sheath  protein transport into plasma membrane raft  ATP metabolic process  protein stabilization  protein stabilization  leukocyte migration  ATPase binding  relaxation of cardiac muscle  cardiac muscle contraction  extracellular exosome  protein localization to plasma membrane  membrane repolarization  membrane repolarization during cardiac muscle cell action potential  cell communication by electrical coupling involved in cardiac conduction  ATP hydrolysis coupled transmembrane transport  positive regulation of potassium ion transmembrane transporter activity  positive regulation of sodium ion export across plasma membrane  positive regulation of calcium:sodium antiporter activity  positive regulation of potassium ion import  extracellular vesicle  regulation of cardiac conduction  potassium ion import across plasma membrane  
Ontology : EGO-EBIresponse to hypoxia  ATPase activator activity  sodium:potassium-exchanging ATPase activity  sodium:potassium-exchanging ATPase activity  protein binding  ATP binding  intracellular  plasma membrane  plasma membrane  sodium:potassium-exchanging ATPase complex  sodium:potassium-exchanging ATPase complex  caveola  cellular calcium ion homeostasis  cellular sodium ion homeostasis  cell adhesion  protein C-terminus binding  drug binding  potassium ion import  establishment or maintenance of transmembrane electrochemical gradient  regulation of gene expression  regulation of cardiac muscle contraction by calcium ion signaling  intercalated disc  membrane  basolateral plasma membrane  apical plasma membrane  ATPase activity  protein kinase binding  MHC class II protein complex binding  cellular potassium ion homeostasis  potassium ion binding  sodium ion binding  positive regulation of ATPase activity  ion transmembrane transport  sodium ion export across plasma membrane  sodium ion export across plasma membrane  sarcolemma  myelin sheath  protein transport into plasma membrane raft  ATP metabolic process  protein stabilization  protein stabilization  leukocyte migration  ATPase binding  relaxation of cardiac muscle  cardiac muscle contraction  extracellular exosome  protein localization to plasma membrane  membrane repolarization  membrane repolarization during cardiac muscle cell action potential  cell communication by electrical coupling involved in cardiac conduction  ATP hydrolysis coupled transmembrane transport  positive regulation of potassium ion transmembrane transporter activity  positive regulation of sodium ion export across plasma membrane  positive regulation of calcium:sodium antiporter activity  positive regulation of potassium ion import  extracellular vesicle  regulation of cardiac conduction  potassium ion import across plasma membrane  
NDEx NetworkATP1B1
Atlas of Cancer Signalling NetworkATP1B1
Wikipedia pathwaysATP1B1
Orthology - Evolution
OrthoDB481
GeneTree (enSembl)ENSG00000143153
Phylogenetic Trees/Animal Genes : TreeFamATP1B1
HOVERGENP05026
HOGENOMP05026
Homologs : HomoloGeneATP1B1
Homology/Alignments : Family Browser (UCSC)ATP1B1
Gene fusions - Rearrangements
Fusion : MitelmanATP1B1/RCSD1 [1q24.2/1q24.2]  
Fusion PortalATP1B1 1q24.2 RCSD1 1q24.2 LUAD
Fusion : QuiverATP1B1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP1B1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP1B1
dbVarATP1B1
ClinVarATP1B1
1000_GenomesATP1B1 
Exome Variant ServerATP1B1
ExAC (Exome Aggregation Consortium)ENSG00000143153
GNOMAD BrowserENSG00000143153
Genetic variants : HAPMAP481
Genomic Variants (DGV)ATP1B1 [DGVbeta]
DECIPHERATP1B1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP1B1 
Mutations
ICGC Data PortalATP1B1 
TCGA Data PortalATP1B1 
Broad Tumor PortalATP1B1
OASIS PortalATP1B1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP1B1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP1B1
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 ATP1B1
DgiDB (Drug Gene Interaction Database)ATP1B1
DoCM (Curated mutations)ATP1B1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP1B1 (select a term)
intoGenATP1B1
Cancer3DATP1B1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM145500    182330   
Orphanet
DisGeNETATP1B1
MedgenATP1B1
Genetic Testing Registry ATP1B1
NextProtP05026 [Medical]
TSGene481
GENETestsATP1B1
Target ValidationATP1B1
Huge Navigator ATP1B1 [HugePedia]
snp3D : Map Gene to Disease481
BioCentury BCIQATP1B1
ClinGenATP1B1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD481
Chemical/Pharm GKB GenePA66
Clinical trialATP1B1
Miscellaneous
canSAR (ICR)ATP1B1 (select the gene name)
Probes
Litterature
PubMed94 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP1B1
EVEXATP1B1
GoPubMedATP1B1
iHOPATP1B1
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 : Fri Jun 22 16:15:26 CEST 2018
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