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Aliases for ATP1B1 Gene

Aliases for ATP1B1 Gene

  • ATPase Na+/K+ Transporting Subunit Beta 1 2 3 5
  • Sodium-Potassium ATPase Subunit Beta 1 (Non-Catalytic) 2 3
  • Sodium/Potassium-Transporting ATPase Subunit Beta-1 2 3
  • ATPase, Na+/K+ Transporting, Beta 1 Polypeptide 2 3
  • Sodium Pump Subunit Beta-1 2 3
  • ATP1B 3 4
  • Sodium/Potassium-Transporting ATPase Beta-1 Chain 3
  • Sodium/Potassium-Dependent ATPase Beta-1 Subunit 3
  • Sodium/Potassium-Dependent ATPase Subunit Beta-1 4
  • Beta 1-Subunit Of Na(+),K(+)-ATPase 3
  • Na, K-ATPase Beta-1 Polypeptide 3
  • Adenosinetriphosphatase 3

External Ids for ATP1B1 Gene

Previous HGNC Symbols for ATP1B1 Gene

  • ATP1B

Previous GeneCards Identifiers for ATP1B1 Gene

  • GC01P166710
  • GC01P164726
  • GC01P165771
  • GC01P166263
  • GC01P165807
  • GC01P167342
  • GC01P169074
  • GC01P140321

Summaries for ATP1B1 Gene

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 Subunit Beta 1) is a Protein Coding gene. Diseases associated with ATP1B1 include Hypertension, Essential and Thyrotoxic Periodic Paralysis. Among its related pathways are Salivary secretion and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include ATPase binding and ATPase activator activity. An important paralog of this gene is ATP1B2.

UniProtKB/Swiss-Prot for ATP1B1 Gene

  • 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.

  • Involved in cell adhesion and establishing epithelial cell polarity.

Tocris Summary for ATP1B1 Gene

  • The Na+/K+ ATPase is a membrane protein that is composed of two subunits - alpha and beta. The pump maintains an essential electrochemical gradient within cells through the active transport of sodium (Na+) and potassium (K+) ions.

Gene Wiki entry for ATP1B1 Gene

Additional gene information for ATP1B1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP1B1 Gene

Genomics for ATP1B1 Gene

GeneHancer (GH) Regulatory Elements for ATP1B1 Gene

Promoters and enhancers for ATP1B1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I169101 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 559.7 +2.5 2505 14 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ATP1B1 RN7SL333P METTL18 LINC00970 NME7 CCDC181 RPL7AP21 XCL2 LOC101928596 PIR51723
GH01I169141 Enhancer 1.1 ENCODE dbSUPER 17.9 +41.2 41177 10 FOXA2 MLX ARID4B DMAP1 ETS1 YY1 TCF12 RXRA MIER2 REST NME7 ATP1B1 LOC101928596 PIR51723
GH01I168465 Enhancer 1.4 FANTOM5 Ensembl ENCODE 13.7 -636.8 -636849 6.2 PKNOX1 FOXA2 SMAD1 ARNT FEZF1 IRF4 ZNF207 FOS SP3 ZNF592 ATP1B1 LOC101928596 QRSL1P1 LOC101928565 ENSG00000228697
GH01I168918 Enhancer 1 Ensembl ENCODE 16 -185.1 -185080 3.9 ELF3 FOXA2 BATF RAD21 RARA FOS RUNX3 NR2F2 ZNF217 SP1 RPL29P7 ATP1B1 LOC101928596 RN7SL333P GC01M168920 GC01P168899 LINC00970
GH01I168799 Enhancer 1 ENCODE 15.2 -304.6 -304634 2.9 FOXA2 MLX FEZF1 ZNF2 BRCA1 YY1 ZNF213 FOS KLF13 RXRA ATP1B1 DPT LOC101928596 LOC105371606 LINC00626
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATP1B1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATP1B1 gene promoter:

Genomic Locations for ATP1B1 Gene

Genomic Locations for ATP1B1 Gene
27,026 bases
Plus strand

Genomic View for ATP1B1 Gene

Genes around ATP1B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP1B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP1B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP1B1 Gene

Proteins for ATP1B1 Gene

  • Protein details for ATP1B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Sodium/potassium-transporting ATPase subunit beta-1
    Protein Accession:
    Secondary Accessions:
    • Q5TGZ3

    Protein attributes for ATP1B1 Gene

    303 amino acids
    Molecular mass:
    35061 Da
    Quaternary structure:
    • The sodium/potassium-transporting ATPase is composed of a catalytic alpha subunit, an auxiliary non-catalytic beta subunit and an additional regulatory subunit. Interacts with regulatory subunit FXYD1 (By similarity). Interacts with regulatory subunit FXYD3 (By similarity). Interacts with NKAIN1, NKAIN2 and NKAIN4 (By similarity). Interacts with MLC1 (PubMed:22328087). Part of a complex containing MLC1, TRPV4, AQP4 and HEPACAM (PubMed:22328087). Interacts with KIRREL3 (PubMed:25902260). Interacts with OBSCN (via protein kinase domain 1) (By similarity).

    Alternative splice isoforms for ATP1B1 Gene


neXtProt entry for ATP1B1 Gene

Post-translational modifications for ATP1B1 Gene

Other Protein References for ATP1B1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ATP1B1 Gene

Domains & Families for ATP1B1 Gene

Gene Families for ATP1B1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for ATP1B1 Gene

Graphical View of Domain Structure for InterPro Entry



  • The C-terminal lobe folds into an immunoglobulin-like domain and mediates cell adhesion properties.
  • Belongs to the X(+)/potassium ATPases subunit beta family.
  • The C-terminal lobe folds into an immunoglobulin-like domain and mediates cell adhesion properties.
  • Belongs to the X(+)/potassium ATPases subunit beta family.
genes like me logo Genes that share domains with ATP1B1: view

Function for ATP1B1 Gene

Molecular function for ATP1B1 Gene

GENATLAS Biochemistry:
ATPase,Na+K+,beta 1 polypeptide,expressed in neurons,containing a CCG repeat in 5utr
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Function:
Involved in cell adhesion and establishing epithelial cell polarity.

Phenotypes From GWAS Catalog for ATP1B1 Gene

Gene Ontology (GO) - Molecular Function for ATP1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001671 ATPase activator activity IDA 10636900
GO:0005391 contributes_to sodium:potassium-exchanging ATPase activity ISS --
GO:0005515 protein binding IPI 17947299
GO:0005524 contributes_to ATP binding IDA 23954377
GO:0008022 protein C-terminus binding IEA --
genes like me logo Genes that share ontologies with ATP1B1: view
genes like me logo Genes that share phenotypes with ATP1B1: view

Animal Model Products

miRNA for ATP1B1 Gene

miRTarBase miRNAs that target ATP1B1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP1B1 Gene

Localization for ATP1B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP1B1 Gene

Cell membrane; Single-pass type II membrane protein. Cell membrane, sarcolemma. Note=Colocalizes with OBSCN at the intercalated disk and sarcolemma in cardiomyocytes. Localizes in long striations at the level of Z and M lines. {ECO:0000250 UniProtKB:P14094}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP1B1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ATP1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane IDA,TAS --
GO:0005890 sodium:potassium-exchanging ATPase complex IEA,ISS --
GO:0005901 caveola IEA --
GO:0014704 intercalated disc ISS --
genes like me logo Genes that share ontologies with ATP1B1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP1B1 Gene

Pathways & Interactions for ATP1B1 Gene

genes like me logo Genes that share pathways with ATP1B1: view

Gene Ontology (GO) - Biological Process for ATP1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0006814 sodium ion transport IEA --
genes like me logo Genes that share ontologies with ATP1B1: view

No data available for SIGNOR curated interactions for ATP1B1 Gene

Drugs & Compounds for ATP1B1 Gene

(11) Drugs for ATP1B1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Potassium Approved, Investigational Pharma 0
Magnesium Approved Nutra 0
Rubidium chloride Rb-82 Approved, Investigational Pharma Carrier, substrate 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist 0

(5) Additional Compounds for ATP1B1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
  • Sodium
  • Sodium ion
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)

(4) Tocris Compounds for ATP1B1 Gene

Compound Action Cas Number
Digoxin Na+/K+ ATPase inhibitor 20830-75-5
Lithium carbonate Mood stabilizer; inhibits Na+/K+ ATPase pump activity 554-13-2
Ouabain Na+/K+ ATPase inhibitor 630-60-4
Rostafuroxin Na+/K+ ATPase modulator; antihypertensive agent 156722-18-8
genes like me logo Genes that share compounds with ATP1B1: view

Transcripts for ATP1B1 Gene

mRNA/cDNA for ATP1B1 Gene

Unigene Clusters for ATP1B1 Gene

ATPase, Na+/K+ transporting, beta 1 polypeptide:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP1B1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b · 9c
SP1: - - - -
SP3: - - - - - -
SP4: - - - - - -
SP5: -
SP6: - -
SP7: - - - -

Relevant External Links for ATP1B1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ATP1B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATP1B1 Gene

mRNA differential expression in normal tissues according to GTEx for ATP1B1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.0).

Protein differential expression in normal tissues from HIPED for ATP1B1 Gene

This gene is overexpressed in Frontal cortex (16.1), Nasal epithelium (7.2), Spinal cord (6.3), and Brain (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATP1B1 Gene

Protein tissue co-expression partners for ATP1B1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATP1B1 Gene:


SOURCE GeneReport for Unigene cluster for ATP1B1 Gene:


mRNA Expression by UniProt/SwissProt for ATP1B1 Gene:

Tissue specificity: Found in most tissues.

Evidence on tissue expression from TISSUES for ATP1B1 Gene

  • Nervous system(4.9)
  • Kidney(4.8)
  • Liver(4.5)
  • Eye(4.3)
  • Pancreas(3.7)
  • Lung(3.4)
  • Stomach(3.2)
  • Muscle(2.7)
  • Heart(2.6)
  • Intestine(2.5)
  • Thyroid gland(2.3)
  • Gall bladder(2.2)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with ATP1B1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP1B1 Gene

Orthologs for ATP1B1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATP1B1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ATP1B1 33 34
  • 99.12 (n)
(Canis familiaris)
Mammalia ATP1B1 33 34
  • 89.33 (n)
(Rattus norvegicus)
Mammalia Atp1b1 33
  • 89.22 (n)
(Mus musculus)
Mammalia Atp1b1 33 16 34
  • 88.78 (n)
(Bos Taurus)
Mammalia ATP1B1 33 34
  • 88.08 (n)
(Monodelphis domestica)
Mammalia ATP1B1 34
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia ATP1B1 34
  • 71 (a)
(Gallus gallus)
Aves ATP1B1 33 34
  • 71.73 (n)
(Anolis carolinensis)
Reptilia ATP1B1 34
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia atp1b1 33
  • 67 (n)
African clawed frog
(Xenopus laevis)
Amphibia atp1b1a-prov 33
(Danio rerio)
Actinopterygii atp1b1b 33 34
  • 61.17 (n)
atp1b1a 33 34
  • 58 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10571 33
fruit fly
(Drosophila melanogaster)
Insecta nrv3 33 34
  • 47.05 (n)
Nrv1 35
  • 33 (a)
CG8663 35
  • 30 (a)
nrv1 34
  • 29 (a)
nrv2 34
  • 23 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009595 33
  • 45.91 (n)
(Caenorhabditis elegans)
Secernentea F55F3.3 35
  • 31 (a)
nkb-3 34
  • 28 (a)
nkb-1 34
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10387 34
  • 27 (a)
Species where no ortholog for ATP1B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP1B1 Gene

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

Paralogs for ATP1B1 Gene

Paralogs for ATP1B1 Gene

(4) SIMAP similar genes for ATP1B1 Gene using alignment to 8 proteins: Pseudogenes for ATP1B1 Gene

genes like me logo Genes that share paralogs with ATP1B1: view

Variants for ATP1B1 Gene

Sequence variations from dbSNP and Humsavar for ATP1B1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs267598155 uncertain-significance, Cardiac arrhythmia 169,130,013(+) C/T coding_sequence_variant, missense_variant
rs1000003322 -- 169,115,209(+) GGGGGGTGGGG/GGGG intron_variant
rs1000131391 -- 169,118,895(+) A/C intron_variant
rs1000176887 -- 169,109,713(+) G/A intron_variant
rs1000430440 -- 169,107,149(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ATP1B1 Gene

Variant ID Type Subtype PubMed ID
esv22143 CNV gain+loss 19812545
esv2719339 CNV deletion 23290073
nsv1078878 OTHER inversion 25765185
nsv831858 CNV gain 17160897

Variation tolerance for ATP1B1 Gene

Residual Variation Intolerance Score: 47.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.16; 3.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP1B1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP1B1 Gene

Disorders for ATP1B1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ATP1B1 Gene - From: HGMD, OMIM, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypertension, essential
  • eht
thyrotoxic periodic paralysis
  • thyrotoxic hypokalemic periodic paralysis
hemiplegic migraine
  • migraine hemiplegic
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP1B1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ATP1B1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP1B1 Gene

Publications for ATP1B1 Gene

  1. Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes. (PMID: 16430714) Kung AW … Chan V (Clinical endocrinology 2006) 3 22 44 58
  2. Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations. (PMID: 22328087) Lanciotti A … Ambrosini E (Human molecular genetics 2012) 3 4 58
  3. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PMID: 20453000) Liu CY … Christiani DC (Carcinogenesis 2010) 3 44 58
  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. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  5. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 44 58

Products for ATP1B1 Gene

Sources for ATP1B1 Gene

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