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ATP1A1 Gene

protein-coding   GIFtS: 72
GCID: GC01P116915

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

  See ATP1A1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include protein kinase binding 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   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 Chromatin IP Primers for ATP1A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • 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)1
  • Ubiquitination2 at Lys45, Lys54, Lys162, Lys177, Lys212, Lys359, Lys377, Lys444, Lys468, Lys476,
                                 Lys487, Lys494, Lys508, Lys605, Lys612, Lys625, Lys629, Lys671, Lys683, Lys698 (see all 22)
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ATP1A1 (P05023) (see all 103)
     AVETLGS  SSLTGES  LIFVYDE  DDHKLSL 


    See ATP1A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    ATP1A1 Human Recombinant Protein Products:

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    OriGene Purified Protein for ATP1A1
    OriGene Protein Over-expression Lysate for ATP1A1
    OriGene MassSpec for ATP1A1
    OriGene Custom Protein Services for ATP1A1
    GenScript Custom Purified and Recombinant Proteins Services for ATP1A1
    Novus Biologicals ATP1A1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for ATP1A1 

    ATP1A1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ATP1A1
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    Novus Biologicals ATP1A1 Antibodies
    Abcam antibodies for ATP1A1 (Q13733, P05023)
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for ATP1A1
    LSBio Antibodies in human, mouse, rat for ATP1A1

    ATP1A1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for ATP1A1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for ATP1A1 


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

    IUPHAR Guide to PHARMACOLOGY protein family classification: alpha1
    Na+/K+-ATPase

    Selected InterPro protein domains (see all 9):
     IPR023298 ATPase_P-typ_TM_dom
     IPR005775 ATPase_P-typ_Na/K_IIC
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR023214 HAD-like_dom
     IPR004014 ATPase_P-typ_cation-transptr_N

    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


    Find genes that share domains with ATP1A1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005391sodium:potassium-exchanging ATPase activity ISS--
    GO:0005515protein binding IPI11027149
    GO:0005524ATP binding IEA--
    GO:0015077monovalent inorganic cation transmembrane transporter activity ----
         
    Find genes that share ontologies with ATP1A1           About GenesLikeMe


    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 

    Find genes that share phenotypes with ATP1A1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Atp1a1tm1Ling for ATP1A1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP1A1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target ATP1A1:
    hsa-mir-484 (MIRT041714), hsa-mir-23b-3p (MIRT046260), hsa-mir-26a-5p (MIRT050108), hsa-mir-99a-5p (MIRT048687), hsa-mir-93-3p (MIRT038912), hsa-mir-26b-5p (MIRT028862), hsa-mir-340-5p (MIRT019537), hsa-mir-320a (MIRT044531), hsa-mir-193b-3p (MIRT016292), hsa-mir-30d-5p (MIRT047825), hsa-let-7b-5p (MIRT052345), hsa-mir-92a-3p (MIRT049192), hsa-mir-18a-5p (MIRT050658), hsa-mir-197-3p (MIRT048123), hsa-mir-196a-5p (MIRT048222)

    Block miRNA regulation of human, mouse, rat ATP1A1 using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for ATP1A1
    Predesigned siRNA for gene silencing in human, mouse, rat ATP1A1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ATP1A1

    Clone
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    OriGene clones in human, mouse for ATP1A1 (see all 19)
    OriGene ORF clones in mouse, rat for ATP1A1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ATP1A1 (NM_000701)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATP1A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP1A1

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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP1A1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AT1A1_HUMAN, P05023: Cell membrane; Multi-pass membrane protein. Melanosome. Note=Identified by mass spectrometry
    in melanosome fractions from stage I to stage IV
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum3
    golgi apparatus3
    cytosol1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 14):    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--

    Find genes that share ontologies with ATP1A1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ATP1A1 About   (see all 24)  
    See pathways by source

    SuperPathContained pathways About
    1Insulin secretion
    Insulin secretion0.36
    Thyroid hormone synthesis0.36
    2Salivary secretion
    Salivary secretion0.34
    Gastric acid secretion0.34
    3Ion channel transport
    Ion channel transport0.58
    4Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    5Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Aldosterone Signaling in Epithelial Cells0.47


    Find genes that share SuperPaths with ATP1A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe 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

    1 Reactome Pathway for ATP1A1
        Ion transport by P-type ATPases

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

    Selected Kegg Pathways  (Kegg details for ATP1A1) (see all 15):
        Cardiac muscle contraction
    Adrenergic signaling in cardiomyocytes
    Insulin secretion
    Thyroid hormone synthesis
    Thyroid hormone signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Array including ATP1A1: 
              Osmotic Stress in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ATP1A1

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

    Selected Interacting proteins for ATP1A1 (P050231, 2, 3 ENSP000002955984) via UniProtKB, MINT, STRING, and/or I2D (see all 145)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TPT1P136931, 2, 3, ENSP000003683504EBI-358778,EBI-1783169 MINT-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): Selected biological process terms (see all 20):    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 ----

    Find genes that share ontologies with ATP1A1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--

    Selected 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)



    Find genes that share compounds with ATP1A1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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)

    miRNA
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    Selected qRT-PCR 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
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    GenScript: all cDNA clones in your preferred vector (see all 3): ATP1A1 (NM_000701)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATP1A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP1A1
    Primer
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    OriGene qPCR primer pairs and template standards for ATP1A1
    OriGene qSTAR qPCR primer pairs in human, mouse for ATP1A1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ATP1A1
      QuantiTect SYBR Green Assays in human, mouse, rat ATP1A1
      QuantiFast Probe-based Assays in human, mouse, rat ATP1A1

    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 

    Selected 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 

    Selected AceView cDNA sequences (see all 1761):

    BU731481 CA421147 BU858091 CA941001 BM563252 BU855528 BM802108 CB216966 
    BU553110 F01432 BU552414 BM997085 BX463516 BM797147 BU196188 AW410253 
    AA724005 AW377562 BQ721757 BU956979 BM554685 CA395860 BM979940 AI376099 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ATP1A1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 24) fully expand
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Collecting Duct Cells Renal Collecting Duct System
             Metanephros
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Midbrain tegmentum
     
     Zygote (Early Embryonic Tissues)    fully expand to see all 2 entries
             Morula Cells Morula
             Morula
     
     Epithelial Cells
             Collecting Duct Cells Renal Collecting Duct System
     
     Thymus (Hematopoietic System)
             Thymus
    ATP1A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP1A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.371889
        Pathway & Disease-focused RT2 Profiler PCR Array including ATP1A1: 
              Osmotic Stress in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ATP1A1
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    In Situ
    Assay Products:
     

     
    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

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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ATP1A1 gene from Selected species (see all 18)    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 81.06(n)
    92.56(a)
      396530  NM_205521.1  NP_990852.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP1A16
    ATPase, Na+/K+ transporting, alpha 1 polypeptide
    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)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ENA56
    ENA16
    (see all 3)
    Protein with similarity to P-type ATPase sodium pu...
    P-type ATPase sodium pump, involved in Na+ and Li+...
    (see all 3)
    27(a)
    27(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    IV(527422-530697) YDR038C
    IV(535192-538467) YDR040C


    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)
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    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    ATP4A    DKFZp666G172    ATP12A

    Find genes that share paralogs with ATP1A1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATP1A1 (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP1A1
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP1A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 182310    OMIM disorders: --

    1 disease for ATP1A1:    
    About MalaCards
    thyrotoxic periodic paralysis


    Find genes that share disorders with ATP1A1           About GenesLikeMe

    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)
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    PubMed articles for ATP1A1 gene, integrated from 10 sources (see all 213):
    (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. (Clin. Endocrinol. (Oxf) 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. (Gene 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. (Genomics 1990)
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    5. Association between sodium- and potassium-activated adenosine triphosphatase alpha isoforms and bipolar disorders. (PubMed id 19058785)1, 4 Goldstein I....Lichtstein D. (Biol. Psychiatry 2009)
    6. 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. (Eur. J. Pharmacol. 2009)
    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. (Circ. Res. 2007)
    8. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (J. Proteome Res. 2006)
    9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 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. (Biochem. Biophys. Res. Commun. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 476 HGNC: 799 AceView: ATP1A1 Ensembl:ENSG00000163399 euGenes: HUgn476
    ECgene: ATP1A1 Kegg: 476 H-InvDB: ATP1A1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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