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ATP1B1 Gene

protein-coding   GIFtS: 70
GCID: GC01P169074

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


(Previous symbol: ATP1B)
  See ATP1B1-related diseases
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, Beta 1 Polypeptide1 2     Beta 1-Subunit Of Na(+),K(+)-ATPase2
ATP1B1 2 3     Na, K-ATPase Beta-1 Polypeptide2
Sodium Pump Subunit Beta-11 2     Sodium/Potassium-Dependent ATPase Beta-1 Subunit2
Sodium-Potassium ATPase Subunit Beta 1 (Non-Catalytic)1 2     Sodium/Potassium-Transporting ATPase Beta-1 Chain2
Sodium/Potassium-Transporting ATPase Subunit Beta-11 2     Sodium/Potassium-Dependent ATPase Subunit Beta-13
adenosinetriphosphatase2     

External Ids:    HGNC: 8041   Entrez Gene: 4812   Ensembl: ENSG000001431537   OMIM: 1823305   UniProtKB: P050263   

Export aliases for ATP1B1 gene to outside databases

Previous GC identifers: GC01P166710 GC01P164726 GC01P165771 GC01P166263 GC01P165807 GC01P167342 GC01P140321


(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 ATP1B1 Gene:
The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, 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 beta subunit regulates, through assembly of
alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit
of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 1 subunit. Alternatively spliced
transcript variants encoding different isoforms have been described, but their biological validity is not known.
(provided by RefSeq, Mar 2010)

GeneCards Summary for ATP1B1 Gene:
ATP1B1 (ATPase, Na+/K+ transporting, beta 1 polypeptide) is a protein-coding gene. Diseases associated with ATP1B1 include thyrotoxic periodic paralysis, and megalencephalic leukoencephalopathy with subcortical cysts. GO annotations related to this gene include sodium:potassium-exchanging ATPase activity. An important paralog of this gene is ATP1B3.

UniProtKB/Swiss-Prot: AT1B1_HUMAN, P05026
Function: This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled
with the exchange of Na(+) and K(+) ions across the plasma membrane. The beta subunit regulates, through assembly
of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane
Function: Involved in cell adhesion and establishing epithelial cell polarity

summary for ATP1B1 Gene:
Na+,K+-ATPase is an ion pump responsible for maintaining sodium and potassium electrochemical gradients
across the plasma membrane.

Gene Wiki entry for ATP1B1 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  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP1B1 gene promoter:
         c-Fos   N-Myc   AP-1   Sp1   FosB   c-Jun   XBP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ATP1B1 promoter sequence
   Search Chromatin IP Primers for ATP1B1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP1B1


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

Entrez Gene cytogenetic band: 1q24   Ensembl cytogenetic band:  1q24.2   HGNC cytogenetic band: 1q24.2

ATP1B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP1B1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P169074:  view genomic region     (about GC identifiers)

Start:
169,074,935 bp from pter      End:
169,101,960 bp from pter
Size:
27,026 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: AT1B1_HUMAN, P05026 (See protein sequence)
Recommended Name: Sodium/potassium-transporting ATPase subunit beta-1  
Size: 303 amino acids; 35061 Da
Subunit: Composed of three subunits: alpha (catalytic), beta and gamma. Interacts with NKAIN1, NKAIN2 and NKAIN4
(By similarity). Interacts with MLC1. Part of a complex containing MLC1, TRPV4, AQP4 and HEPACAM
Secondary accessions: Q5TGZ3
Alternative splicing: 2 isoforms:  P05026-1   P05026-2   

Explore the universe of human proteins at neXtProt for ATP1B1: NX_P05026

Explore proteomics data for ATP1B1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn158, Asn193, Asn265
  • Modification sites at PhosphoSitePlus

  • See ATP1B1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001668.1  
    ENSEMBL proteins: 
     ENSP00000356790   ENSP00000356789   ENSP00000477015   ENSP00000356787   ENSP00000423450  
    Reactome Protein details: P05026

    ATP1B1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for ATP1B1
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    Novus Biologicals ATP1B1 Protein
    Novus Biologicals ATP1B1 Lysate
    Sino Biological Recombinant Protein for ATP1B1
    Sino Biological Cell Lysate for ATP1B1
    ProSpec Recombinant Protein for ATP1B1
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for ATP1B1 

     
    antibodies-online proteins for ATP1B1 (14 products) 

     
    antibodies-online peptides for ATP1B1

    ATP1B1 Antibody Products:

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    Abcam antibodies for ATP1B1 (Q13733, P05023, P05026)
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    ThermoFisher Antibody for ATP1B1
    antibodies-online antibodies for ATP1B1 (35 products) 

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    antibodies-online kits for ATP1B1 (20 products) 


    (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: beta1
    Na+/K+-ATPase

    2 InterPro protein domains:
     IPR015565 Na/K_ATPase_sub_beta_chordates
     IPR000402 Na/K_ATPase_sub_beta

    Graphical View of Domain Structure for InterPro Entry P05026

    ProtoNet protein and cluster: P05026

    1 Blocks protein domain: IPB000402 Na+/K+ ATPase

    UniProtKB/Swiss-Prot: AT1B1_HUMAN, P05026
    Domain: The C-terminal lobe folds into an immunoglobulin-like domain and mediates cell adhesion properties (By
    similarity)
    Similarity: Belongs to the X(+)/potassium ATPases subunit beta family


    Find genes that share domains with ATP1B1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: AT1B1_HUMAN, P05026
    Function: This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled
    with the exchange of Na(+) and K(+) ions across the plasma membrane. The beta subunit regulates, through assembly
    of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane
    Function: Involved in cell adhesion and establishing epithelial cell polarity

         Genatlas biochemistry entry for ATP1B1:
    ATPase,Na+K+,beta 1 polypeptide,expressed in neurons,containing a CCG repeat in 5'utr

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005391sodium:potassium-exchanging ATPase activity IEA--
    GO:0005515protein binding IPI17947299
    GO:0023026MHC class II protein complex binding IDA--
         
    Find genes that share ontologies with ATP1B1           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Atp1b1):
     cardiovascular system  homeostasis/metabolism  mortality/aging  muscle  normal 

    Find genes that share phenotypes with ATP1B1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ATP1B1

    miRNA
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    miRTarBase miRNAs that target ATP1B1:
    hsa-mir-192-5p (MIRT007176)

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    Selected qRT-PCR Assays for microRNAs that regulate ATP1B1 (see all 76):
    hsa-miR-124* hsa-miR-323-3p hsa-miR-607 hsa-miR-300 hsa-miR-485-3p hsa-miR-200a hsa-miR-578 hsa-miR-502-3p
    SwitchGear 3'UTR luciferase reporter plasmidATP1B1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ATP1B1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP1B1


    (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
    AT1B1_HUMAN, P05026: Cell membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol1
    endoplasmic reticulum1
    extracellular1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005890sodium:potassium-exchanging ATPase complex IEA--
    GO:0005901caveola IEA--
    GO:0016323basolateral plasma membrane IEA--
    GO:0016324apical plasma membrane IEA--

    Find genes that share ontologies with ATP1B1           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 ATP1B1 About   (see all 23)  
    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 ATP1B1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ATP1B1
        Hepatic ABC Transporters
    Aldosterone Signaling in Epithelial Cells

    1 BioSystems Pathway for ATP1B1
        Calcium Regulation in the Cardiac Cell


    2 Reactome Pathways for ATP1B1
        Ion transport by P-type ATPases
    Basigin interactions


    Selected Kegg Pathways  (Kegg details for ATP1B1) (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 ATP1B1: 
              Osmotic Stress in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ATP1B1

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

    Selected Interacting proteins for ATP1B1 (P050262, 3 ENSP000003567894) via UniProtKB, MINT, STRING, and/or I2D (see all 69)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDAH2O958652, 3MINT-8249135 I2D: score=2 
    ENSG00000206395O958652, 3MINT-8249135 I2D: score=2 
    ENSG00000225635O958652, 3MINT-8249135 I2D: score=2 
    ENSG00000226634O958652, 3MINT-8249135 I2D: score=2 
    ENSG00000227317O958652, 3MINT-8249135 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IEA--
    GO:0006810transport TAS2559024
    GO:0006813potassium ion transport ----
    GO:0006814sodium ion transport ----
    GO:0007155cell adhesion IEA--

    Find genes that share ontologies with ATP1B1           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 ATP1B1 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]

    7 HMDB Compounds for ATP1B1    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--
    MagnesiumMagnesium (see all 2)7439-95-4--
    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--

    9 Novoseek inferred chemical compound relationships for ATP1B1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adp 56.9 3 9821385 (1), 9104868 (1), 2143799 (1)
    atp 46.9 6 7636446 (1), 9821385 (1), 9108255 (1), 8368267 (1) (see all 6)
    phosphocreatine 43.4 2 1837013 (1), 8368267 (1)
    adenylate 23.9 2 7636446 (1), 8930003 (1)
    magnesium 19.4 2 7636446 (1), 9821385 (1)
    sodium 6.89 1 8285207 (1)
    creatinine 1.97 3 7636446 (1), 8368267 (1), 8930003 (1)
    calcium 0 3 8074172 (1), 9821385 (1), 9458857 (1)
    potassium 0 3 9821385 (1), 8285207 (1)



    Find genes that share compounds with ATP1B1           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 ATP1B1 gene (2 alternative transcripts): 
    NM_001677.3  NM_001001787.1  

    Unigene Cluster for ATP1B1:

    ATPase, Na+/K+ transporting, beta 1 polypeptide
    Hs.291196  [show with all ESTs]
    Unigene Representative Sequence: NM_001677
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367816 ENST00000367815(uc001gfr.1) ENST00000494797 ENST00000367813
    ENST00000499679
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ATP1B1 (see all 76):
    hsa-miR-124* hsa-miR-323-3p hsa-miR-607 hsa-miR-300 hsa-miR-485-3p hsa-miR-200a hsa-miR-578 hsa-miR-502-3p
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      QuantiTect SYBR Green Assays in human, mouse, rat ATP1B1
      QuantiFast Probe-based Assays in human, mouse, rat ATP1B1

    Additional mRNA sequence: 

    AK290181.1 AK296059.1 AK316043.1 AY545986.1 AY946016.1 BC000006.2 BT009787.1 CR407616.1 
    U16799.1 

    Selected DOTS entries (see all 28):

    DT.75140977  DT.100892664  DT.95189697  DT.95189651  DT.95093688  DT.91778953  DT.100683403  DT.100892669 
    DT.40133655  DT.91778920  DT.101970686  DT.91788330  DT.91778897  DT.91656951  DT.121401621  DT.95189710 
    DT.100031162  DT.101956634  DT.95189704  DT.100031160  DT.100892683  DT.121401554  DT.121401660  DT.121401662 

    Selected AceView cDNA sequences (see all 550):

    BQ689154 BE274172 AI150646 BQ271186 AW024904 BM990193 BM756438 AL583539 
    NM_001677 CR596103 AA211943 BM852553 BP349061 CA450075 F03425 AW772069 
    AI766959 BM677134 AW769310 BU687076 AA887708 AI963436 BU675188 AV653349 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ATP1B1 (see all 7)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b · 9c
    SP1:                          -     -     -                 -                                                                           
    SP2:                                                                                                                                    
    SP3:                          -     -     -     -     -     -                                                                           
    SP4:        -     -           -     -     -                 -                                                                           
    SP5:                                                        -                                                                           


    ECgene alternative splicing isoforms for ATP1B1

    (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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    ATP1B1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTAACATA
    ATP1B1 Expression
    About this image


    ATP1B1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 23) fully expand
     
     Kidney (Urinary System)    fully expand to see all 6 entries
             Ureteric Bud Cells Ureteric Bud
             Metanephros
             Renal proximal tubularlike cells
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Epithalamus
     
     Pancreas (Endocrine System)    fully expand to see all 4 entries
             Tail of Pancreas
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Cardiac Fibroblasts Myocardium
             Endocardium
    ATP1B1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP1B1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.291196

    UniProtKB/Swiss-Prot: AT1B1_HUMAN, P05026
    Tissue specificity: Found in most tissues

        Pathway & Disease-focused RT2 Profiler PCR Array including ATP1B1: 
              Osmotic Stress in human mouse rat

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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ATP1B1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp1b11 , 5 ATPase, Na+/K+ transporting, beta 1 polypeptide1, 5 88.78(n)1
    94.06(a)1
      1 (71.75 cM)5
    119311  NM_009721.61  NP_033851.11 
     1644372675 
    chicken
    (Gallus gallus)
    Aves ATP1B11 ATPase, Na+/K+ transporting, beta 1 polypeptide 71.73(n)
    71.29(a)
      396529  NM_205520.4  NP_990851.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP1B16
    ATPase, Na+/K+ transporting, beta 1 polypeptide
    69(a)
    1 ↔ 1
    3(175500855-175535157)
    African clawed frog
    (Xenopus laevis)
    Amphibia atp1b1a-prov2 ATPase, Na+/K+ transporting, beta 1a polypeptide 80.47(n)    BC047957.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atp1b1a2 ATPase, Na+/K+ transporting, beta 1a polypeptide 79(n)   64267  BC045376.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nrv13
    nrv31
    potassium ion transport
    sodium/potassium-exchanging more3
    nervana 31
    33(a)
    (best of 2)3
    47.05(n)1
    35.38(a)1
      2 27B13
    354081  NM_001273746.11  NP_001260675.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F55F3.33 Sodium and potassium ATPases 31(a)   X(13800847-13803158)   --


    ENSEMBL Gene Tree for ATP1B1 (if available)
    TreeFam Gene Tree for ATP1B1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP1B1 gene
    ATP1B32  ATP1B42  ATP1B22  ATP4B2  
    4 SIMAP similar genes for ATP1B1 using alignment to 8 protein entries:     AT1B1_HUMAN (see all proteins):
    ATP1B2    ATP1B4    ATP4B    ATP1B3

    Find genes that share paralogs with ATP1B1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ATP1B1
    PGOHUM00000245890


    (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 ATP1B1 (see all 719)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs357064351,2
    C--140335160(+) CATTG-/TTAAGT 1 -- int10--------
    rs38354401,2
    C--169078693(+) CTCTC-/TCCCAGT 1 -- int10--------
    rs114232131,2
    C--169079805(+) TTTTT-/TGCTTT 1 -- int10--------
    rs615551931,2
    C--169080852(+) CCATG-/AAAAGG 1 -- int10--------
    rs783285561,2
    C--169084462(+) GAATC-/ATATGCT 1 -- int10--------
    rs716935701,2
    C--169085588(+) CTCTT-/TTAAGGT 1 -- int10--------
    rs711217221,2
    C--169092008(-) CAATT-/TAAAAA
    /TAAAAAAA
    AAAAA
    2 -- int1 cds11NA 2
    rs37956131,2
    C,H--175626177(+) TACAGA/GTTTTC 1 -- us2k17Minor allele frequency- G:0.26EA NA WA 1848
    rs794858711,2
    C,F--175626203(+) ATGGAC/TACTCA 1 -- us2k11Minor allele frequency- T:0.15WA 118
    rs1389072411,2
    --175626298(+) ATACCC/TGCAAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ATP1B1 (169074935 - 169101960 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ATP1B1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2719339CNV Deletion23290073
    nsv831858CNV Gain17160897
    esv22143CNV Gain+Loss19812545

    Human Gene Mutation Database (HGMD): ATP1B1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP1B1
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP1B1

    (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: 182330   
    OMIM disorders: 145500  
    2 diseases for ATP1B1:    
    About MalaCards
    thyrotoxic periodic paralysis    megalencephalic leukoencephalopathy with subcortical cysts


    Find genes that share disorders with ATP1B1           About GenesLikeMe

    Genetic Association Database (GAD): ATP1B1
    Human Genome Epidemiology (HuGE) Navigator: ATP1B1 (9 documents)

    Export disorders for ATP1B1 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 ATP1B1 gene, integrated from 10 sources (see all 115):
    (articles sorted by number of sources associating them with ATP1B1)
        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. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (Carcinogenesis 2010)
    3. 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)
    4. Common variants at ten loci modulate the QT interval duration in the QTSCD Study. (PubMed id 19305409)1, 4 Pfeufer A.... Chakravarti A. (Nat. Genet. 2009)
    5. Association of ATP1B1 single-nucleotide polymorphisms with blood pressure and hypertension in a Chinese population. (PubMed id 19563793)1, 4 Xiao B....Zhu D. ( international journal of clinical chemistry 2009)
    6. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PubMed id 19536175)1, 4 Ehret G.B....Chakravarti A. (Eur. J. Hum. Genet. 2009)
    7. A C-terminal lobe of the beta subunit of Na,K-ATPase and H,K-ATPase resembles cell adhesion molecules. (PubMed id 19694409)1, 2 Bab-Dinitz E....Karlish S.J. (Biochemistry 2009)
    8. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PubMed id 19064610)1, 4 Cheung C.L....Kung A.W. (Hum. Mol. Genet. 2009)
    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. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (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: 481 HGNC: 804 AceView: ATP1B1 Ensembl:ENSG00000143153 euGenes: HUgn481
    ECgene: ATP1B1 Kegg: 481 H-InvDB: ATP1B1

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for ATP1B1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATP1B1 gene:
    Search GeneIP for patents involving ATP1B1

    Licensable Technologies for ATP1B1 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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