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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATP1A1 Gene

protein-coding   GIFtS: 71
GCID: GC01P116915

ATPase, Na+/K+ Transporting, Alpha 1 Polypeptide

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
ATPase, Na+/K+ Transporting, Alpha 1 Polypeptide1 2     Na+/K+ ATPase 12
Sodium Pump Subunit Alpha-11 2 3     Na, K-ATPase, Alpha-A Catalytic Polypeptide2
Sodium-Potassium ATPase Catalytic Subunit Alpha-11 2     Na,K-ATPase Alpha-1 Subunit2
Sodium/Potassium-Transporting ATPase Subunit Alpha-11 2     Na,K-ATPase Catalytic Subunit Alpha-A Protein2
Na(+)/K(+) ATPase Alpha-1 Subunit2 3     Sodium Pump 12
EC 3.6.3.93 8     Sodium-Potassium-ATPase, Alpha 1 Polypeptide2
Na+, K+ ATPase Alpha Subunit2     EC 3.6.38

External Ids:    HGNC: 7991   Entrez Gene: 4762   Ensembl: ENSG000001633997   OMIM: 1823105   UniProtKB: P050233   

Export aliases for ATP1A1 gene to outside databases

Previous GC identifers: GC01P117418 GC01P115798 GC01P116063 GC01P116262 GC01P116627 GC01P116717 GC01P114773


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ATP1A1 Gene:
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of
Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the
electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for
osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical
excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and
a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This
gene encodes an alpha 1 subunit. Multiple transcript variants encoding different isoforms have been found for
this gene. (provided by RefSeq, May 2009)

GeneCards Summary for ATP1A1 Gene: 
ATP1A1 (ATPase, Na+/K+ transporting, alpha 1 polypeptide) is a protein-coding gene. Diseases associated with ATP1A1 include thyrotoxic periodic paralysis, and pulmonary edema, and among its related super-pathways are Thyroid hormone synthesis and Salivary secretion. GO annotations related to this gene include sodium:potassium-exchanging ATPase activity and chaperone binding. An important paralog of this gene is ATP1A2.

UniProtKB/Swiss-Prot: AT1A1_HUMAN, P05023
Function: This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with
the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical
gradient of sodium and potassium ions, providing the energy for active transport of various nutrients

summary for ATP1A1 Gene:
Na+,K+-ATPase is an ion pump responsible for maintaining sodium and potassium electrochemical gradients
across the plasma membrane.

Gene Wiki entry for ATP1A1 (ATPase, Na+/K+ transporting, alpha 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP1A1 gene promoter:
         NF-1   Tal-1   p53   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   GATA-1   E47   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): ATP1A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP1A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP1A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p21   Ensembl cytogenetic band:  1p13.1   HGNC cytogenetic band: 1p13

ATP1A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP1A1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P116915:  view genomic region     (about GC identifiers)

Start:
116,915,290 bp from pter      End:
116,952,883 bp from pter
Size:
37,594 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AT1A1_HUMAN, P05023 (See protein sequence)
Recommended Name: Sodium/potassium-transporting ATPase subunit alpha-1 precursor  
Size: 1023 amino acids; 112896 Da
Subunit: Interacts with SIK1 (By similarity). Composed of three subunits: alpha (catalytic), beta and gamma. Binds
the HLA class II histocompatibility antigen, DR1
Subcellular location: Cell membrane; Multi-pass membrane protein. Melanosome. Note=Identified by mass spectrometry
in melanosome fractions from stage I to stage IV
Secondary accessions: B2RBR6 B7Z2T5 B7Z3U6 F5H3A1 Q16689 Q6LDM4 Q9UCN1 Q9UJ20 Q9UJ21
Alternative splicing: 4 isoforms:  P05023-1   P05023-2   P05023-3   P05023-4   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for ATP1A1: NX_P05023

Explore proteomics data for ATP1A1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation on Tyr-10 modulates pumping activity. Dephosphorylation by protein phosphatase 2A (PP2A) following
    increases in intracellular sodium, leading to increase catalytic activity (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P05023

  • 4/103 DME Specific Peptides for ATP1A1 (P05023) (see all 103)
     AVETLGS  SSLTGES  LIFVYDE  DDHKLSL 

    ATP1A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP1A1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_000692.2  NP_001153705.1  NP_001153706.1  

    ENSEMBL proteins: 
     ENSP00000400124   ENSP00000295598   ENSP00000358506   ENSP00000396236   ENSP00000445306  
     ENSP00000358508  
    Reactome Protein details: P05023
    Human Recombinant Protein Products for ATP1A1: 
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    Novus Biologicals ATP1A1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005768endosome IEA--
    GO:0005783endoplasmic reticulum ISS--
    GO:0005794Golgi apparatus ISS--
    GO:0005886plasma membrane TAS--
    GO:0005890sodium:potassium-exchanging ATPase complex IEA--

    ATP1A1 for ontologies           About GeneDecksing



    ATP1A1 Antibody Products: 
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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PATP: ATPases / P-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: α1 
    Na+/K+-ATPase

    5/9 InterPro protein domains (see all 9):
     IPR023298 ATPase_P-typ_TM_dom
     IPR005775 ATPase_P-typ_Na/K_IIC
     IPR023299 ATPase_P-typ_cyto_domN
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR023214 HAD-like_dom

    Graphical View of Domain Structure for InterPro Entry P05023

    ProtoNet protein and cluster: P05023

    4 Blocks protein domains:
    IPB001757 ATPase
    IPB006068 Cation transporting ATPase
    IPB006069 Sodium/potassium-transporting ATPase signature
    IPB008250 E1-E2 ATPase-associated region


    UniProtKB/Swiss-Prot: AT1A1_HUMAN, P05023
    Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily


    ATP1A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AT1A1_HUMAN, P05023
    Function: This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with
    the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical
    gradient of sodium and potassium ions, providing the energy for active transport of various nutrients
    Catalytic activity: ATP + H(2)O + Na(+)(In) + K(+)(Out) = ADP + phosphate + Na(+)(Out) + K(+)(In)

         Genatlas biochemistry entry for ATP1A1:
    ATPase,Na+K+,alpha 1 polypeptide

         Enzyme Numbers (IUBMB): EC 3.6.3.91 2 EC 3.6.32

         Gene Ontology (GO): 5/17 molecular function terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:00038694-nitrophenylphosphatase activity IEA--
    GO:0005391sodium:potassium-exchanging ATPase activity ISS--
    GO:0005515protein binding IPI11027149
    GO:0005524ATP binding IEA--
         
    ATP1A1 for ontologies           About GeneDecksing


    Phenotypes:
         7 GenomeRNAi human phenotypes for ATP1A1:
     Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella enterica  
     Decreased Salmonella enterica   Decreased Salmonella-containin  Increased cell number in G1, s 

         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Atp1a1):
     behavior/neurological  cardiovascular system  homeostasis/metabolism  mortality/aging  muscle 

    ATP1A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Atp1a1tm1Ling for ATP1A1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ATP1A1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ATP1A1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATP1A1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATP1A1 

    miRNA
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    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate ATP1A1 (see all 11):
    hsa-miR-3163 hsa-miR-3685 hsa-miR-548d-3p hsa-miR-520d-5p hsa-miR-374b hsa-miR-374a hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidATP1A1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): ATP1A1 (NM_000701)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATP1A1
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                         Customized lentivirus expression plasmids for stable overexpression of ATP1A1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP1A1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ATP1A1 About   (see all 21)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Insulin secretion
    Insulin secretion0.36
    Thyroid hormone synthesis0.36
    2Gastric acid secretion
    Gastric acid secretion0.34
    Salivary secretion0.34
    3Ion channel transport
    Ion channel transport0.49
    Ion transport by P-type ATPases0.32
    4SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50
    5Development Leptin signaling via PI3K-dependent pathway
    Development Leptin signaling via PI3K-dependent pathway1.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for ATP1A1
        Sodium-coupled transporters and pumps
    Selected targets of GCR-alpha
    Development Leptin signaling via PI3K-dependent pathway

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ATP1A1
        Hepatic ABC Transporters
    Aldosterone Signaling in Epithelial Cells

    1 Cell Signaling Technology (CST) Pathway for ATP1A1
        Cytoskeletal Signaling

    1 GeneGo (Thomson Reuters) Pathway for ATP1A1
        Development Leptin signaling via PI3K-dependent pathway

    3        Reactome Pathways for ATP1A1
        Transmembrane transport of small molecules
    Ion channel transport
    Ion transport by P-type ATPases

    2 PharmGKB Pathways for ATP1A1
        Antiarrhythmic Pathway, Pharmacodynamics
    Diuretics Pathway, Pharmacodynamics

    5/13         Kegg Pathways  (Kegg details for ATP1A1) (see all 13):
        Cardiac muscle contraction
    Insulin secretion
    Thyroid hormone synthesis
    Aldosterone-regulated sodium reabsorption
    Endocrine and other factor-regulated calcium reabsorption


    ATP1A1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP1A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/122 Interacting proteins for ATP1A1 (P050232, 3 ENSP000002955984) via UniProtKB, MINT, STRING, and/or I2D (see all 122)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TPT1P136932, 3, ENSP000003683504MINT-2634433 I2D: score=3 STRING: ENSP00000368350
    SNX6Q9UNH72, 3, ENSP000003552174MINT-2634538 I2D: score=1 STRING: ENSP00000355217
    TNFRSF1AP194382, 3MINT-49301 I2D: score=2 
    TNFRSF1BP203332, 3MINT-49377 I2D: score=2 
    TRADDQ156282, 3MINT-49467 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002026regulation of the force of heart contraction IEA--
    GO:0002028regulation of sodium ion transport ISS--
    GO:0006754ATP biosynthetic process IEA--
    GO:0006812cation transport ----
    GO:0006813potassium ion transport ----

    ATP1A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ATP1A1 for compounds           About GeneDecksing

    EMD Millipore small molecules for ATP1A1:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ATP1A1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Lithium carbonateMood stabilizer; inhibits Na+/K+ ATPase pump activity[554-13-2]
    Digoxin Na+, K+-ATPase inhibitor [20830-75-5]

    10 HMDB Compounds for ATP1A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    DigoxinCardoxin (see all 19)20830-75-5--
    FurosemideAcetic acid potassium salt (see all 176)54-31-9--
    MagnesiumMagnesium (see all 2)7439-95-4--
    PantoprazolePantoloc (see all 6)102625-70-7--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    PotassiumK+ (see all 16)7440-09-7--
    SodiumSodium (see all 2)7440-23-5--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    10/15 DrugBank Compounds for ATP1A1 (see all 15)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Aluminium-- 7429-90-5targetbinder11509182 15651920 15111247 14507470 11752352 15254985
    DigitoxinDigitoksin (see all 3)71-63-6targetinhibitor131389 132355 11309248 123547 136410 19751721
    OuabainG-Strophanthin (see all 7)630-60-4targetinhibitor10593659 10593655 10541475 11752352 10564763 10567200
    AlmitrineAlmitrine bismesylate (see all 3)27469-53-0targetbinder2527061 8099718 11752352 2144185 2165421
    Bepridil-- 64706-54-3targetinhibitor2148481 2938592 1329768 2933041 2207500
    Digoxin-- 20830-75-5target--11309248 11324464 11515751 11272406 11687608
    Ethacrynic acidEtacrinic acid (see all 6)58-54-8targetinhibitor124600 124205 12713517 127690 12680902
    PotassiumK (see all 5)7440-09-7target--17366541 17334838 17444965 17347782 17369284
    BretyliumBretylate (see all 4)59-41-6targetinhibitor1662173 1667290 1334399 15121098
    Magnesium-- 7439-95-4target--16928192 17294093 16990961 16808357

    2 Novoseek inferred chemical compound relationships for ATP1A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ouabain 54 2 11768735 (1), 19427512 (1)
    calcium 0 2 8407954 (1), 18550646 (1)

    Search CenterWatch for drugs/clinical trials and news about ATP1A1 / AT1A1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for ATP1A1 gene (4 alternative transcripts): 
    NM_000701.7  NM_001160233.1  NM_001160234.1  NM_001001586.1  

    Unigene Cluster for ATP1A1:

    ATPase, Na+/K+ transporting, alpha 1 polypeptide
    Hs.371889  [show with all ESTs]
    Unigene Representative Sequence: NM_001160233
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000418797 ENST00000295598(uc001ege.3) ENST00000488733(uc001egd.2)
    ENST00000369494 ENST00000463382 ENST00000491156 ENST00000440951 ENST00000479960
    ENST00000495965 ENST00000537345(uc010oww.2) ENST00000369496(uc010owv.1 uc010owx.2)


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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATP1A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP1A1
    Sirion Biotech Customized lentivirus for stable overexpression of ATP1A1 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATP1A1
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    Additional mRNA sequence: 

    AK293689.1 AK295095.1 AK296362.1 AK296384.1 AK308418.1 AK314777.1 AY946013.1 BC001330.1 
    BC003077.2 BC050359.1 J03007.1 U16798.1 

    24/74 DOTS entries (see all 74):

    DT.75165969  DT.92345482  DT.95264681  DT.95264709  DT.100855340  DT.70103952  DT.100680990  DT.95293386 
    DT.121352549  DT.95264725  DT.91904187  DT.95264652  DT.121352390  DT.100681002  DT.121352388  DT.95264736 
    DT.75169764  DT.87009666  DT.91962308  DT.121352536  DT.121352584  DT.121352458  DT.121352557  DT.70100137 

    24/1761 AceView cDNA sequences (see all 1761):

    BQ677101 BM725325 BM564633 BQ181726 BQ685426 AI873639 BM512340 AI832688 
    AU127775 AU149523 BU855596 AA350993 BU731481 BQ008763 AI086961 CK429299 
    AW304233 BM876279 NM_000701 BM564509 BU190814 BF034452 BQ898490 BQ681814 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for ATP1A1 (see all 11)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ·
    SP1:                                                                                -                                                                 -         
    SP2:                                                                                -                                                                 -         
    SP3:                                                                                                                                      -           -         
    SP4:                                                        -     -                 -                                                                           
    SP5:        -                                                                                                                                                   

    ExUns: 16c ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24 ^ 25
    SP1:                                -                       -               
    SP2:  -     -     -     -     -     -     -                 -               
    SP3:                                                                        
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for ATP1A1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATP1A1 expression in normal human tissues (normalized intensities)      ATP1A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGCTCTATG
    ATP1A1 Expression
    About this image


    ATP1A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/35 selected tissues (see all 35) fully expand
     
     Brain (Nervous System)    fully expand to see all 20 entries
             Thalamus
             Septum   
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             Collecting Duct Cells Renal Collecting Duct System
             Metanephros
             kidney ; cells in tubules   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart/atrium   
     
     Spinal Cord (Nervous System)    fully expand to see all 3 entries
             Dorsal Horn   
     
     Nose (Sensory Organs)    fully expand to see all 3 entries
             nasopharynx ; respiratory epithelial cells   
             sensory organ/nose   

    See ATP1A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP1A1

    SOURCE GeneReport for Unigene cluster: Hs.371889
        SABiosciences Expression via Pathway-Focused PCR Array including ATP1A1: 
              Osmotic Stress in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP1A1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ATP1A1 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp1a11 , 5 ATPase, Na+/K+ transporting, alpha 1 polypeptide1, 5 89.28(n)1
    96.87(a)1
      3 (44.30 cM)5
    119281  NM_144900.21  NP_659149.11 
     1015762195 
    chicken
    (Gallus gallus)
    Aves ATP1A11 ATPase, Na+/K+ transporting, alpha 1 polypeptide 81.16(n)
    92.65(a)
      396530  NM_205521.1  NP_990852.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP1A16
    Uncharacterized protein
    93(a)
    1 ↔ 1
    GL343414.1(12413-56873)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC044670.12   -- 77.73(n)    BC044670.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atp1a1a.12 ATPase, Na+/K+ transporting, alpha 1a.1 polypeptide 78.39(n)   64612  AY028630.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Atpalpha3 cation transport
    sodium/potassium-exchanging ATPase
    76(a)
    (best of 3)
      93B2   --
    worm
    (Caenorhabditis elegans)
    Secernentea eat-63 Na(+)/K(+) ATPase alpha subunit 73(a)
    (best of 3)
      V(13129245-13132586)   --


    ENSEMBL Gene Tree for ATP1A1 (if available)
    TreeFam Gene Tree for ATP1A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP1A1 gene
    ATP1A22  ATP1A42  ATP12A2  ATP4A2  ATP1A32  
    6 SIMAP similar genes for ATP1A1 using alignment to 7 protein entries:     AT1A1_HUMAN (see all proteins):
    ATP1A3    ATP1A2    ATP1A4    DKFZp666G172    ATP4A    ATP12A

    ATP1A1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/405 SNPs in ATP1A1 are shown (see all 405)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs729980331,2
    C,F--116913814(+) GAGAAA/GTCTAC 1 -- us2k17Minor allele frequency- G:0.29WA CSA NA EA 364
    rs617880081,2
    C,F--116914159(+) TGATCC/TGCCCG 1 -- us2k12Minor allele frequency- T:0.50WA CSA 4
    rs1839180441,2
    --116914316(+) TTTCTA/GGAAGC 1 -- us2k10--------
    rs1888596561,2
    --116914364(+) TAACAA/GTCTAA 1 -- us2k10--------
    rs741118641,2
    C,F--116914639(+) TTCCAG/CTTTCA 2 -- us2k12Minor allele frequency- C:0.09WA 120
    rs1394588601,2
    C--116914739(+) CCTTT-/CCCCAG 2 -- us2k10--------
    rs1456222181,2
    C--116914879(+) ACCAGA/GGATCT 2 -- us2k10--------
    rs2014241361,2
    C--116914909(+) CTGGG-/CCCCCC 2 -- us2k10--------
    rs1919520171,2
    C--116914914(+) GCCCCC/TCCAGA 2 -- us2k10--------
    rs120625911,2
    C,F,H--116914975(+) AGGCAC/TCTGGC 2 -- us2k112Minor allele frequency- T:0.06EA NS NA WA 1536

    HapMap Linkage Disequilibrium report for ATP1A1 (116915290 - 116952883 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ATP1A1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv2533CNV Insertion18451855

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 182310    OMIM disorders: --

    20/24 diseases for ATP1A1 (see all 24):    About MalaCards
    thyrotoxic periodic paralysis    pulmonary edema    paralysis    diabetic neuropathy
    pharyngitis    dilated cardiomyopathy    essential hypertension    medulloblastoma
    bipolar disorder    neuropathy    hypertension    ischemia
    multiple sclerosis    glioblastoma    retinitis    rheumatoid arthritis
    hypoxia    alzheimer's disease    arthritis    melanoma


    ATP1A1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): ATP1A1
    Human Genome Epidemiology (HuGE) Navigator: ATP1A1 (10 documents)

    Export disorders for ATP1A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ATP1A1 gene, integrated from 9 sources (see all 209):
    (articles sorted by number of sources associating them with ATP1A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes. (PubMed id 16430714)1, 4, 9 Kung A.W....Chan V. (2006)
    2. Characterization and quantification of full-length and truncated Na,K-ATPase alpha 1 and beta 1 RNA transcripts expressed in human retinal pigment epithelium. (PubMed id 7536695)1, 2, 9 Ruiz A.... Bok D. (1995)
    3. The human Na, K-ATPase alpha 1 gene: characterization of the 5'- flanking region and identification of a restriction fragment length polymorphism. (PubMed id 1970326)1, 2, 9 Shull M.M.... Lingrel J.B. (1990)
    4. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    5. Isoform specificity of cardiac glycosides binding to human Na+,K+-ATPase alpha1beta1, alpha2beta1 and alpha3beta1. (PubMed id 19751721)1, 7 Hauck C....MA1ller-Ehmsen J. (2009)
    6. Association Between Sodium- and Potassium-Activated Adenosine Triphosphatase alpha Isoforms and Bipolar Disorders. (PubMed id 19058785)1, 4 Goldstein I....Lichtstein D. (2008)
    7. Association of ATP1A1 and dear single-nucleotide polymorphism haplotypes with essential hypertension: sex-specific and haplotype-specific effects. (PubMed id 17446437)1, 4 Glorioso N....Ruiz-Opazo N. (2007)
    8. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)
    9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    10. Predominance of interaction among wild-type alleles of CYP11B2 in Himalayan natives associates with high-altitude adaptation. (PubMed id 16893516)1, 4 Rajput C....Qadar Pasha M.A. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 476 HGNC: 799 AceView: ATP1A1 Ensembl:ENSG00000163399 euGenes: HUgn476
    ECgene: ATP1A1 Kegg: 476 H-InvDB: ATP1A1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ATP1A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ATP1A1 gene:
    Search GeneIP for patents involving ATP1A1

    Licensable Technologies for ATP1A1 gene:
    Weizmann Institute:"Na, K-ATPase Isoforms and Selective Inhibitors Thereof"
    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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