Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   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

ATP1A1 (ATPase Na+/K+ transporting subunit alpha 1)

Identity

Alias_namesATPase
Other alias-
HGNC (Hugo) ATP1A1
LocusID (NCBI) 476
Atlas_Id 51554
Location 1p13.1  [Link to chromosome band 1p13]
Location_base_pair Starts at 116915795 and ends at 116947396 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AHNAK (11q12.3) / ATP1A1 (1p13.1)ATP1A1 (1p13.1) / ATP1A1 (1p13.1)ATP1A1 (1p13.1) / NOTCH2 (1p12)
ATP1A1 (1p13.1) / PHIP (6q14.1)ATP1A1 (1p13.1) / RABEP1 (17p13.2)ATP1A1 (1p13.1) / SLC22A15 (1p13.1)
ATP1A1 (1p13.1) / TMA7 (3p21.31)ATP1A1 (1p13.1) / UBE3C (7q36.3)ATP1A1 (1p13.1) / VANGL1 (1p13.1)
ATP1A1 (1p13.1) / ZFP36 (19q13.2)EWSR1 (22q12.2) / ATP1A1 (1p13.1)MAP2 (2q34) / ATP1A1 (1p13.1)
MAPK1 (22q11.21) / ATP1A1 (1p13.1)PPP1R15A (19q13.33) / ATP1A1 (1p13.1)RACK1 (5q35.3) / ATP1A1 (1p13.1)
RBM47 (4p14) / ATP1A1 (1p13.1)RSRC1 (3q25.32) / ATP1A1 (1p13.1)VDAC3 (8p11.21) / ATP1A1 (1p13.1)
ZER1 (9q34.11) / ATP1A1 (1p13.1)ATP1A1 1p13.1 / NOTCH2 1p12ATP1A1 1p13.1 / RABEP1 17p13.2
ATP1A1 1p13.1 / VANGL1 1p13.1

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)ATP1A1   799
Cards
Entrez_Gene (NCBI)ATP1A1  476  ATPase Na+/K+ transporting subunit alpha 1
Aliases
GeneCards (Weizmann)ATP1A1
Ensembl hg19 (Hinxton)ENSG00000163399 [Gene_View]  chr1:116915795-116947396 [Contig_View]  ATP1A1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000163399 [Gene_View]  chr1:116915795-116947396 [Contig_View]  ATP1A1 [Vega]
ICGC DataPortalENSG00000163399
TCGA cBioPortalATP1A1
AceView (NCBI)ATP1A1
Genatlas (Paris)ATP1A1
WikiGenes476
SOURCE (Princeton)ATP1A1
Genetics Home Reference (NIH)ATP1A1
Genomic and cartography
GoldenPath hg19 (UCSC)ATP1A1  -     chr1:116915795-116947396 +  1p13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ATP1A1  -     1p13.1   [Description]    (hg38-Dec_2013)
EnsemblATP1A1 - 1p13.1 [CytoView hg19]  ATP1A1 - 1p13.1 [CytoView hg38]
Mapping of homologs : NCBIATP1A1 [Mapview hg19]  ATP1A1 [Mapview hg38]
OMIM182310   
Gene and transcription
Genbank (Entrez)AK293689 AK295095 AK296362 AK296384 AK308418
RefSeq transcript (Entrez)NM_000701 NM_001001586 NM_001160233 NM_001160234
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_032977 NW_004929290
Consensus coding sequences : CCDS (NCBI)ATP1A1
Cluster EST : UnigeneHs.371889 [ NCBI ]
CGAP (NCI)Hs.371889
Alternative Splicing GalleryENSG00000163399
Gene ExpressionATP1A1 [ NCBI-GEO ]   ATP1A1 [ EBI - ARRAY_EXPRESS ]   ATP1A1 [ SEEK ]   ATP1A1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP1A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)476
GTEX Portal (Tissue expression)ATP1A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP05023   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP05023  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP05023
Splice isoforms : SwissVarP05023
Catalytic activity : Enzyme3.6.3.9 [ Enzyme-Expasy ]   3.6.3.93.6.3.9 [ IntEnz-EBI ]   3.6.3.9 [ BRENDA ]   3.6.3.9 [ KEGG ]   
PhosPhoSitePlusP05023
Domaine pattern : Prosite (Expaxy)ATPASE_E1_E2 (PS00154)   
Domains : Interpro (EBI)ATPase_P-typ_cation-transptr_C    ATPase_P-typ_cation-transptr_N    ATPase_P-typ_cyto_domN    ATPase_P-typ_P_site    ATPase_P-typ_TM_dom    ATPase_P-typ_transduc_dom_A    HAD-like_dom    P-type_ATPase_IIC    P_typ_ATPase   
Domain families : Pfam (Sanger)Cation_ATPase_C (PF00689)    Cation_ATPase_N (PF00690)    E1-E2_ATPase (PF00122)   
Domain families : Pfam (NCBI)pfam00689    pfam00690    pfam00122   
Domain families : Smart (EMBL)Cation_ATPase_N (SM00831)  
Conserved Domain (NCBI)ATP1A1
DMDM Disease mutations476
Blocks (Seattle)ATP1A1
SuperfamilyP05023
Human Protein AtlasENSG00000163399
Peptide AtlasP05023
HPRD01662
IPIIPI00006482   IPI00414005   IPI00930085   IPI00465060   IPI00646182   IPI00977640   
Protein Interaction databases
DIP (DOE-UCLA)P05023
IntAct (EBI)P05023
FunCoupENSG00000163399
BioGRIDATP1A1
STRING (EMBL)ATP1A1
ZODIACATP1A1
Ontologies - Pathways
QuickGOP05023
Ontology : AmiGOregulation of the force of heart contraction  regulation of sodium ion transport  sodium:potassium-exchanging ATPase activity  sodium:potassium-exchanging ATPase activity  sodium:potassium-exchanging ATPase activity  protein binding  ATP binding  endosome  endoplasmic reticulum  Golgi apparatus  plasma membrane  plasma membrane  sodium:potassium-exchanging ATPase complex  sodium:potassium-exchanging ATPase complex  caveola  cellular sodium ion homeostasis  regulation of blood pressure  potassium ion import  establishment or maintenance of transmembrane electrochemical gradient  establishment or maintenance of transmembrane electrochemical gradient  establishment or maintenance of transmembrane electrochemical gradient  establishment or maintenance of transmembrane electrochemical gradient  intercalated disc  ATP hydrolysis coupled proton transport  membrane  integral component of membrane  dephosphorylation  basolateral plasma membrane  apical plasma membrane  phosphatase activity  protein kinase binding  protein domain specific binding  cellular potassium ion homeostasis  T-tubule  ankyrin binding  potassium ion binding  sodium ion binding  negative regulation of glucocorticoid biosynthetic process  ion transmembrane transport  sodium ion export from cell  sodium ion export from cell  sarcolemma  melanosome  response to drug  myelin sheath  intracellular membrane-bounded organelle  protein complex  ADP binding  phosphatidylinositol 3-kinase binding  negative regulation of heart contraction  positive regulation of heart contraction  positive regulation of striated muscle contraction  chaperone binding  relaxation of cardiac muscle  cardiac muscle contraction  membrane hyperpolarization  extracellular exosome  cellular response to mechanical stimulus  cellular response to steroid hormone stimulus  regulation of cardiac muscle cell contraction  membrane repolarization  membrane repolarization during cardiac muscle cell action potential  cell communication by electrical coupling involved in cardiac conduction  neuronal postsynaptic density  response to glycoside  extracellular vesicle  regulation of cardiac conduction  steroid hormone binding  potassium ion import across plasma membrane  
Ontology : EGO-EBIregulation of the force of heart contraction  regulation of sodium ion transport  sodium:potassium-exchanging ATPase activity  sodium:potassium-exchanging ATPase activity  sodium:potassium-exchanging ATPase activity  protein binding  ATP binding  endosome  endoplasmic reticulum  Golgi apparatus  plasma membrane  plasma membrane  sodium:potassium-exchanging ATPase complex  sodium:potassium-exchanging ATPase complex  caveola  cellular sodium ion homeostasis  regulation of blood pressure  potassium ion import  establishment or maintenance of transmembrane electrochemical gradient  establishment or maintenance of transmembrane electrochemical gradient  establishment or maintenance of transmembrane electrochemical gradient  establishment or maintenance of transmembrane electrochemical gradient  intercalated disc  ATP hydrolysis coupled proton transport  membrane  integral component of membrane  dephosphorylation  basolateral plasma membrane  apical plasma membrane  phosphatase activity  protein kinase binding  protein domain specific binding  cellular potassium ion homeostasis  T-tubule  ankyrin binding  potassium ion binding  sodium ion binding  negative regulation of glucocorticoid biosynthetic process  ion transmembrane transport  sodium ion export from cell  sodium ion export from cell  sarcolemma  melanosome  response to drug  myelin sheath  intracellular membrane-bounded organelle  protein complex  ADP binding  phosphatidylinositol 3-kinase binding  negative regulation of heart contraction  positive regulation of heart contraction  positive regulation of striated muscle contraction  chaperone binding  relaxation of cardiac muscle  cardiac muscle contraction  membrane hyperpolarization  extracellular exosome  cellular response to mechanical stimulus  cellular response to steroid hormone stimulus  regulation of cardiac muscle cell contraction  membrane repolarization  membrane repolarization during cardiac muscle cell action potential  cell communication by electrical coupling involved in cardiac conduction  neuronal postsynaptic density  response to glycoside  extracellular vesicle  regulation of cardiac conduction  steroid hormone binding  potassium ion import across plasma membrane  
Pathways : KEGGCardiac muscle contraction    Adrenergic signaling in cardiomyocytes    Insulin secretion    Thyroid hormone synthesis    Thyroid hormone signaling pathway    Aldosterone-regulated sodium reabsorption    Endocrine and other factor-regulated calcium reabsorption    Proximal tubule bicarbonate reclamation    Salivary secretion    Gastric acid secretion    Pancreatic secretion    Carbohydrate digestion and absorption    Protein digestion and absorption    Bile secretion    Mineral absorption   
NDEx NetworkATP1A1
Atlas of Cancer Signalling NetworkATP1A1
Wikipedia pathwaysATP1A1
Orthology - Evolution
OrthoDB476
GeneTree (enSembl)ENSG00000163399
Phylogenetic Trees/Animal Genes : TreeFamATP1A1
HOVERGENP05023
HOGENOMP05023
Homologs : HomoloGeneATP1A1
Homology/Alignments : Family Browser (UCSC)ATP1A1
Gene fusions - Rearrangements
Fusion : MitelmanATP1A1/NOTCH2 [1p13.1/1p12]  
Fusion : MitelmanATP1A1/RABEP1 [1p13.1/17p13.2]  [t(1;17)(p13;p13)]  
Fusion : MitelmanATP1A1/VANGL1 [1p13.1/1p13.1]  [t(1;1)(p13;p13)]  
Fusion: TCGAATP1A1 1p13.1 NOTCH2 1p12 BRCA
Fusion: TCGAATP1A1 1p13.1 RABEP1 17p13.2 BRCA
Fusion: TCGAATP1A1 1p13.1 VANGL1 1p13.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP1A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP1A1
dbVarATP1A1
ClinVarATP1A1
1000_GenomesATP1A1 
Exome Variant ServerATP1A1
ExAC (Exome Aggregation Consortium)ATP1A1 (select the gene name)
Genetic variants : HAPMAP476
Genomic Variants (DGV)ATP1A1 [DGVbeta]
DECIPHER (Syndromes)1:116915795-116947396  ENSG00000163399
CONAN: Copy Number AnalysisATP1A1 
Mutations
ICGC Data PortalATP1A1 
TCGA Data PortalATP1A1 
Broad Tumor PortalATP1A1
OASIS PortalATP1A1 [ Somatic mutations - Copy number]
Cancer Gene: CensusATP1A1 
Somatic Mutations in Cancer : COSMICATP1A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP1A1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ATP1A1
DgiDB (Drug Gene Interaction Database)ATP1A1
DoCM (Curated mutations)ATP1A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP1A1 (select a term)
intoGenATP1A1
Cancer3DATP1A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM182310   
Orphanet
MedgenATP1A1
Genetic Testing Registry ATP1A1
NextProtP05023 [Medical]
TSGene476
GENETestsATP1A1
Huge Navigator ATP1A1 [HugePedia]
snp3D : Map Gene to Disease476
BioCentury BCIQATP1A1
ClinGenATP1A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD476
Chemical/Pharm GKB GenePA62
Clinical trialATP1A1
Miscellaneous
canSAR (ICR)ATP1A1 (select the gene name)
Probes
Litterature
PubMed166 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP1A1
EVEXATP1A1
GoPubMedATP1A1
iHOPATP1A1
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 : Tue Mar 14 12:56:54 CET 2017

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

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.