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

Gene ID: 481, updated on 6-May-2021

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
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
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Genomic context

See ATP1B1 in Genome Data Viewer
Location:
1q24.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (169106690..169132719)
105.20201022 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 Sharpr-MPRA regulatory region 11596 Neighboring gene NME/NM23 family member 7 Neighboring gene uncharacterized LOC105371605 Neighboring gene basic leucine zipper nuclear factor 1 Neighboring gene coiled-coil domain containing 181

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
GeneReviews: Not available
Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
GeneReviews: Not available
Essential hypertension
MedGen: C0085580 OMIM: 145500 GeneReviews: Not available
Compare labs
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
GeneReviews: Not available
Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.
GeneReviews: Not available
Impact of ancestry and common genetic variants on QT interval in African Americans.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC1798

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ATPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ATPase activator activity IGI
Inferred from Genetic Interaction
more info
PubMed 
enables ATPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables MHC class II protein complex binding HDA PubMed 
enables P-type sodium:potassium-exchanging transporter activity IEA
Inferred from Electronic Annotation
more info
 
enables protein C-terminus binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein heterodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein kinase binding IEA
Inferred from Electronic Annotation
more info
 
enables protein-macromolecule adaptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein-macromolecule adaptor activity IGI
Inferred from Genetic Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in ATP metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cardiac muscle contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cation transmembrane transport IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in cell communication by electrical coupling involved in cardiac conduction TAS
Traceable Author Statement
more info
PubMed 
involved_in cellular calcium ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular potassium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cellular potassium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular sodium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cellular sodium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in establishment or maintenance of transmembrane electrochemical gradient TAS
Traceable Author Statement
more info
PubMed 
involved_in ion transmembrane transport TAS
Traceable Author Statement
more info
 
involved_in leukocyte migration TAS
Traceable Author Statement
more info
 
involved_in membrane repolarization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in membrane repolarization during cardiac muscle cell action potential IC
Inferred by Curator
more info
PubMed 
involved_in positive regulation of ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of P-type sodium:potassium-exchanging transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of P-type sodium:potassium-exchanging transporter activity IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of P-type sodium:potassium-exchanging transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of calcium:sodium antiporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of potassium ion import across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of potassium ion import across plasma membrane IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of potassium ion transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of sodium ion export across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of sodium ion export across plasma membrane IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of sodium ion export across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in potassium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in potassium ion import across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein localization to plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein stabilization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein stabilization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein transport into plasma membrane raft TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of cardiac conduction TAS
Traceable Author Statement
more info
 
involved_in regulation of cardiac muscle contraction by calcium ion signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in relaxation of cardiac muscle ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
involved_in sodium ion export across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in sodium ion export across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
involved_in sodium ion export across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in sodium ion transmembrane transport IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in T-tubule IGI
Inferred from Genetic Interaction
more info
PubMed 
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in caveola IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 
located_in extracellular vesicle HDA PubMed 
located_in intercalated disc ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in lateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in organelle membrane IGI
Inferred from Genetic Interaction
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IGI
Inferred from Genetic Interaction
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in sarcolemma ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of sodium:potassium-exchanging ATPase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of sodium:potassium-exchanging ATPase complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of sodium:potassium-exchanging ATPase complex IGI
Inferred from Genetic Interaction
more info
PubMed 
part_of sodium:potassium-exchanging ATPase complex IPI
Inferred from Physical Interaction
more info
PubMed 
part_of sodium:potassium-exchanging ATPase complex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in sperm flagellum IDA
Inferred from Direct Assay
more info
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)

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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_001677.4NP_001668.1  sodium/potassium-transporting ATPase subunit beta-1

    See identical proteins and their annotated locations for NP_001668.1

    Status: REVIEWED

    Source sequence(s)
    AA514770, AL031726, BC000006, BE223067, BM762099, BQ934151, CD722755, U16799
    Consensus CDS
    CCDS1276.1
    UniProtKB/Swiss-Prot
    P05026
    UniProtKB/TrEMBL
    A3KLL5
    Related
    ENSP00000356789.3, ENST00000367815.9
    Conserved Domains (1) summary
    TIGR01107
    Location:1303
    Na_K_ATPase_bet; Sodium Potassium ATPase beta subunit

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001001787.1: Suppressed sequence

    Description
    NM_001001787.1: This RefSeq was permanently suppressed because it represents a poorly supported variant with non-consensus splice sites.
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