U.S. flag

An official website of the United States government

Links from GEO Profiles

    • Showing Current items.

    ATP1B1 ATPase Na+/K+ transporting subunit beta 1 [ Homo sapiens (human) ]

    Gene ID: 481, updated on 4-Jan-2025

    Summary

    Official Symbol
    ATP1B1provided by HGNC
    Official Full Name
    ATPase Na+/K+ transporting subunit beta 1provided by HGNC
    Primary source
    HGNC:HGNC:804
    See related
    Ensembl:ENSG00000143153 MIM:182330; AllianceGenome:HGNC:804
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ATP1B
    Summary
    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]
    Expression
    Broad expression in kidney (RPKM 716.2), brain (RPKM 270.1) and 14 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ATP1B1 in Genome Data Viewer
    Location:
    1q24.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (169106690..169132719)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (168462171..168488201)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (169075928..169101957)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 970 Neighboring gene RNA, 5S ribosomal pseudogene 66 Neighboring gene uncharacterized LOC101928596 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:169074345-169074918 Neighboring gene Sharpr-MPRA regulatory region 5967 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:169076065-169076637 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:169082217-169083416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:169085415-169086034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2070 Neighboring gene NME/NM23 family member 7 Neighboring gene NANOG hESC enhancer GRCh37_chr1:169185155-169185723 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:169225944-169226549 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:169226550-169227154 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:169336872-169338071 Neighboring gene basic leucine zipper nuclear factor 1 Neighboring gene coiled-coil domain containing 181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2072 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1546 Neighboring gene Sharpr-MPRA regulatory region 5964 Neighboring gene solute carrier family 19 member 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (14 hits/1289 screens)

    Associated conditions

    Description Tests
    Essential hypertension, genetic
    MedGen: CN305331 OMIM: 145500 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
    EBI GWAS Catalog
    Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
    EBI GWAS Catalog
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    EBI GWAS Catalog
    Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.
    EBI GWAS Catalog
    Impact of ancestry and common genetic variants on QT interval in African Americans.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • MGC1798

    Gene Ontology Provided by GOA

    Items 1 - 25 of 44
    Process Evidence Code Pubs
    involved_in ATP metabolic process PubMed 
    involved_in cardiac muscle contraction  
    involved_in cell adhesion  
    involved_in cell communication by electrical coupling involved in cardiac conduction PubMed 
    involved_in establishment or maintenance of transmembrane electrochemical gradient PubMed 
    involved_in establishment or maintenance of transmembrane electrochemical gradient PubMed 
    involved_in innate immune response  
    involved_in intracellular calcium ion homeostasis  
    involved_in intracellular potassium ion homeostasis  
    involved_in intracellular potassium ion homeostasis PubMed 
    involved_in intracellular potassium ion homeostasis  
    involved_in intracellular sodium ion homeostasis  
    involved_in intracellular sodium ion homeostasis PubMed 
    involved_in intracellular sodium ion homeostasis  
    involved_in membrane repolarization PubMed 
    involved_in membrane repolarization during cardiac muscle cell action potential PubMed 
    involved_in monoatomic cation transmembrane transport PubMed 
    involved_in positive regulation of ATP-dependent activity PubMed 
    involved_in positive regulation of P-type sodium:potassium-exchanging transporter activity PubMed 
    involved_in positive regulation of P-type sodium:potassium-exchanging transporter activity PubMed 
    involved_in positive regulation of P-type sodium:potassium-exchanging transporter activity  
    involved_in positive regulation of potassium ion import across plasma membrane PubMed 
    involved_in positive regulation of potassium ion import across plasma membrane PubMed 
    involved_in positive regulation of potassium ion transmembrane transporter activity PubMed 
    involved_in positive regulation of sodium ion export across plasma membrane PubMed 
    involved_in positive regulation of sodium ion export across plasma membrane PubMed 
    involved_in positive regulation of sodium ion export across plasma membrane  
    involved_in potassium ion import across plasma membrane  
    involved_in potassium ion import across plasma membrane  
    involved_in potassium ion import across plasma membrane  
    involved_in protein localization to plasma membrane PubMed 
    involved_in protein stabilization PubMed 
    involved_in protein stabilization  
    involved_in protein transport into plasma membrane raft PubMed 
    involved_in proton transmembrane transport PubMed 
    involved_in regulation of calcium ion transmembrane transport  
    involved_in regulation of cardiac muscle contraction by calcium ion signaling  
    involved_in regulation of gene expression  
    involved_in relaxation of cardiac muscle  
    involved_in sodium ion export across plasma membrane  
    involved_in sodium ion export across plasma membrane PubMed 
    involved_in sodium ion export across plasma membrane  
    involved_in sodium ion export across plasma membrane  
    involved_in sodium ion transmembrane transport PubMed 
    Items 1 - 25 of 44
    Component Evidence Code Pubs
    located_in T-tubule PubMed 
    located_in apical plasma membrane PubMed 
    located_in apical plasma membrane  
    located_in basolateral plasma membrane  
    located_in extracellular exosome PubMed 
    located_in extracellular vesicle PubMed 
    located_in intercalated disc  
    located_in lateral plasma membrane PubMed 
    located_in membrane PubMed 
    located_in organelle membrane PubMed 
    located_in plasma membrane PubMed 
    located_in plasma membrane PubMed 
    located_in plasma membrane  
    located_in sarcolemma  
    part_of sodium:potassium-exchanging ATPase complex  
    part_of sodium:potassium-exchanging ATPase complex PubMed 
    part_of sodium:potassium-exchanging ATPase complex PubMed 
    part_of sodium:potassium-exchanging ATPase complex PubMed 
    part_of sodium:potassium-exchanging ATPase complex  
    located_in sperm flagellum PubMed 

    General protein information

    Preferred Names
    sodium/potassium-transporting ATPase subunit beta-1
    Names
    ATPase, Na+/K+ transporting, beta 1 polypeptide
    Beta 1-subunit of Na(+),K(+)-ATPase
    Na, K-ATPase beta-1 polypeptide
    adenosinetriphosphatase
    sodium pump subunit beta-1
    sodium-potassium ATPase subunit beta 1 (non-catalytic)
    sodium/potassium-dependent ATPase beta-1 subunit
    sodium/potassium-transporting ATPase beta-1 chain
    NP_001668.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023230.1 RefSeqGene

      Range
      4982..31011
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001677.4 → NP_001668.1  sodium/potassium-transporting ATPase subunit beta-1

      Status: REVIEWED

      Source sequence(s)
      AA514770, AL031726, BC000006, BE223067, BM762099, BQ934151, CD722755, U16799
      Consensus CDS
      CCDS1276.1
      UniProtKB/Swiss-Prot
      P05026, Q5TGZ3
      UniProtKB/TrEMBL
      A3KLL5, Q6LEU2
      Related
      ENSP00000356789.3, ENST00000367815.9
      Conserved Domains (1) summary
      TIGR01107
      Location:1 → 303
      Na_K_ATPase_bet; Sodium Potassium ATPase beta subunit

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      169106690..169132719
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      168462171..168488201
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Loading
    Loading
    External link. Please review our privacy policy.