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

ATP1B1 Gene

protein-coding   GIFtS: 66
GCID: GC01P169074

ATPase, Na+/K+ transporting, beta 1 polypeptide


(Previous symbol: ATP1B)
 Explore 29 diseases affiliated with
ATP1B1 via our new
 Human Malady Compendium 
Biological research products
for ATP1B1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
ATPase, Na+/K+ Transporting, Beta 1 Polypeptide1 2     Sodium-Potassium ATPase Subunit Beta 1 (Non-Catalytic)2
ATP1B1 2 3     Sodium/Potassium-Dependent ATPase Beta-1 Subunit2
Adenosinetriphosphatase1     Sodium/Potassium-Transporting ATPase Beta-1 Chain2
Beta 1-Subunit Of Na(+),K(+)-ATPase2     Sodium/Potassium-Transporting ATPase Subunit Beta-12
Na, K-ATPase Beta-1 Polypeptide2     Sodium/Potassium-Dependent ATPase Subunit Beta-13
Sodium Pump Subunit Beta-12     

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

Entrez Gene summary for ATP1B1:
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)

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

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

Gene Wiki entry for ATP1B1


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ATP1B1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Membrane; Single-pass type II membrane protein
Secondary accessions: Q5TGZ3
Alternative splicing: 2 isoforms:  P05026-1   P05026-2   

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P05026

  • ATP1B1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001668.1  
    ENSEMBL proteins: 
     ENSP00000356790   ENSP00000356789   ENSP00000356787   ENSP00000423450  
    Reactome Protein details: P05026
    Human Recombinant Protein Products: 
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    Novus Biologicals ATP1B1 Protein
    Novus Biologicals ATP1B1 Lysate
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    Browse Proteins at Uscn

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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:0016020membrane ----
    GO:0016323basolateral plasma membrane IEA--


    ATP1B1 for ontologies           About GeneDecksing



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    Browse ELISAs and CLIAs at Uscn


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ATP1B1 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry P05026

    ProtoNet protein and cluster: P05026

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

    UniProtKB/Swiss-Prot: AT1B1_HUMAN, P05026
    Similarity: Belongs to the X(+)/potassium ATPases subunit beta family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

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

    miRNA
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    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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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005391sodium:potassium-exchanging ATPase activity IEA--
    GO:0005515protein binding IPI17947299


    ATP1B1 for ontologies           About GeneDecksing


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

    ATP1B1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/19 super-pathways (see all 19About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Ion channel transport
    Ion channel transport1.00
    Ion transport by P-type ATPases0.32
    2Gastric acid secretion
    Gastric acid secretion1.00
    Salivary secretion0.35
    3Basigin interactions
    Basigin interactions1.00
    4Cell surface interactions at the vascular wall
    Cell surface interactions at the vascular wall1.00
    5Selected targets of CREB1
    Selected targets of CREB11.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for ATP1B1
        Selected targets of CREB1

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

    1 BioSystems Pathway for ATP1B1 
        Calcium Regulation in the Cardiac Cell

    5/6        Reactome Pathways for ATP1B1 (see all 6)
        Hemostasis
    Transmembrane transport of small molecules
    Ion channel transport
    Basigin interactions
    Ion transport by P-type ATPases


    5/11         Kegg Pathways  (Kegg details for ATP1B1) (see all 11):
        Cardiac muscle contraction
    Aldosterone-regulated sodium reabsorption
    Endocrine and other factor-regulated calcium reabsorption
    Proximal tubule bicarbonate reclamation
    Salivary secretion


    ATP1B1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATP1B1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    5/42 Interacting proteins for ATP1B1 (P050262, 3 ENSP000003567894) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LRIF1Q5T3J32, 3MINT-63384 I2D: score=4 
    CRIP2P529432, 3MINT-8249124 I2D: score=2 
    DDAH2O958652, 3MINT-8249135 I2D: score=2 
    EZH2Q159102, 3MINT-8249146 I2D: score=2 
    MLL4Q9UMN62, 3MINT-8249157 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IEA--
    GO:0006754ATP biosynthetic process IEA--
    GO:0006810transport TAS2559024
    GO:0006813potassium ion transport ----
    GO:0006814sodium ion transport ----


    ATP1B1 for ontologies           About GeneDecksing



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

    ATP1B1 for compounds           About GeneDecksing

    EMD Millipore small molecules for ATP1B1:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ATP1B1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Ouabain Na+,K+-ATPase inhibitor [630-60-4]
    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 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)

    Search CenterWatch for drugs/clinical trials and news about ATP1B1 / AT1B1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    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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    Additional cDNA sequence: 

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

    24/28 DOTS entries (see all 28):

    DT.75140977  DT.100892664  DT.95189697  DT.95189651  DT.91778953  DT.95093688  DT.100683403  DT.100892669 
    DT.40133655  DT.91778920  DT.91778897  DT.91788330  DT.91656951  DT.121401621  DT.95189710  DT.100031162 
    DT.101956634  DT.101970686  DT.95189704  DT.100031160  DT.121401554  DT.121401660  DT.121401662  DT.121401689 

    24/550 AceView cDNA sequences (see all 550):

    BU675188 BU687076 BM677134 CA943521 BX420567 BM661574 CA450075 AI766959 
    U16799 AW024904 AA236781 BM830180 AA236821 AL697942 AI080468 BQ021775 
    D82214 NM_001001787 AW769310 CA311602 AA987475 W39512 AL583539 BU174422 

    GeneLoc Exon Structure

    5/7 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™, 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

    ATP1B1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCTAACATA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    ATP1B1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/26 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 26
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyRenal Collecting Duct SystemPrincipal CellsKidney
    EyeInner Nuclear LayerMature Horizontal CellsHorizontal, Retina
    HeartEndocardiumCushion Mesenchymal CellsEndocardium
    HeartMyocardiumCardiac FibroblastsEpicardium
    KidneyUreteric BudUreteric Bud CellsKidney
    KidneyUreteric BudUreteric Bud Tip CellsKidney
    LiverLiver LobulePeriportal HepatocytesLiver
    Spinal CordSpinal Dorsal ColumnsDorsal Spinal Cord Progenitor CellsSpinal Cord
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    BoneZeugopod PeriosteumBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor EN2 (Embryonic Progenitor Cell)

    See ATP1B1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP1B1

    SOURCE GeneReport for Unigene cluster: Hs.291196

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

        SABiosciences Expression via Pathway-Focused PCR Array including ATP1B1: 
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ATP1B1 gene from 6/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    68(a)
    1 ↔ 1
    3(175501542-175531196)
    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
    nrv11
    potassium ion transport
    sodium/potassium-exchanging more3
    nervana 11
    33(a)
    (best of 2)3
    49.48(n)1
    38.98(a)1
      2 27B13
    339521  NM_057819.31  NP_477167.11 
    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)
    About This Section
    Paralogs for ATP1B1 gene
    ATP1B32  ATP1B42  ATP1B22  ATP4B2  
    4 SIMAP similar genes for ATP1B1 using alignment to 7 protein entries:     AT1B1_HUMAN (see all proteins):
    ATP1B2    ATP1B4    ATP4B    ATP1B3

    ATP1B1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ATP1B1
    PGOHUM00000245890


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/604 NCBI SNPs in ATP1B1 are shown (see all 604    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs794858711,2
    F,--140320024(+) ATGGAC/TACTCA 1 -- us2k11Minor allele frequency- T:0.15WA 118
    rs779376201,2
    F,--140320581(+) ACTGTC/ACTCAG 1 -- us2k11Minor allele frequency- A:0.03EA 120
    rs168619041,2
    C,F,H,--140320904(+) TCTCAA/GTTGGT 1 -- us2k19Minor allele frequency- G:0.04NS EA NA 1036
    rs283625711,2
    C,F,--140321090(+) GAGTGC/GGAGGG 1 -- us2k16Minor allele frequency- G:0.06NA WA CSA 246
    rs283625721,2
    F,--140321198(+) GGAGGG/AGTGGA 1 -- us2k15Minor allele frequency- A:0.12MN EA WA NA 1610
    rs127515931,2
    F,--140321398(+) CGCCGA/C/TCCCCG 1 -- us2k11NA 120
    rs283625731,2
    F,--140321499(+) CGCCCT/CCTCGG 1 -- us2k11Minor allele frequency- C:0.13EA 120
    rs127558791,2
    C--140322404(+) CCAGAA/GTGGGG 1 -- int10--------
    rs1116024031,2
    C,--140322469(+) CTTGGC/TTTGGT 1 -- int12Minor allele frequency- T:0.16CSA WA 120
    rs1112334181,2
    C,--140322576(+) TCCTT-/AAAAAA 1 -- int11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for ATP1B1 (169074935 - 169101960 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ATP1B1
         1 CNV: 65206
    Human Gene Mutation Database (HGMD): ATP1B1

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    (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.)
    About This Section

    ATP1B1 for disorders           About GeneDecksing

    OMIM gene information: 182330   
    OMIM disorders: 145500  
    20/29 diseases for ATP1B1 (see all 29):    About MalaCards
    blood pressure regulation qtl    thyrotoxic periodic paralysis    paralysis    essential hypertension
    cystic fibrosis    goiter    emphysema    gastric adenocarcinoma
    vaginitis    aldosteronism    fibrosis    hypertension
    t-cell leukemia    influenza    colorectal cancer    adenocarcinoma
    breast cancer    ischemia    leukemia    esophagitis

    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)
    About This Section

    PubMed articles for ATP1B1 gene, integrated from 9 sources (see all 109):
    (articles sorted by number of sources associating them with ATP1B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    2. 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. (2004)
    3. Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. (PubMed id 12754519)1, 2 Zhang H.... Aebersold R. (2003)
    4. 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 Ruiz A.... Bok D. (1995)
    5. Human Na(+), K(+)-ATPase genes. Beta subunit gene family contains at least one gene and one pseudogene. (PubMed id 2555225)1, 2 Ushkaryov Y.A....Sverdlov E.D. (1989)
    6. Characterization of two genes for the human Na,K-ATPase beta subunit. (PubMed id 2559024)1, 2 Lane L.K.... Lingrel J.B. (1989)
    7. Molecular cloning and sequence analysis of human Na,K-ATPase beta- subunit. (PubMed id 3008098)1, 2 Kawakami K.... Nagano K. (1986)
    8. Sodium-potassium ATPase 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress. (PubMed id 17947299)1, 9 Zatyka M....Barrett T.G. (2008)
    9. Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes. (PubMed id 16430714)1, 9 Kung A.W....Chan V. (2006)
    10. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)

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

    (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 ATP1B1 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 ATP1B1 gene:
    Search GeneIP for patents involving ATP1B1

    Licensable Technologies for ATP1B1 gene:
    Weizmann Institute:"Na, K-ATPase Isoforms and Selective Inhibitors Thereof"
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