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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 Megalencephalic Leukoencephalopathy With Subcortical Cysts and Thyrotoxic Periodic Paralysis. Among its related pathways are Ion channel transport and Cardiac conduction. 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

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

Genomics for ATP1B1 Gene

Regulatory Elements for ATP1B1 Gene

Enhancers for ATP1B1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F169141 0.5 ENCODE 17.8 +41.2 41177 10.0 PKNOX1 ATF1 MLX ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF121 ZMIZ1 NME7 ATP1B1 LOC101928596 PIR51723
GH01F168892 1.1 ENCODE 17.5 -212.1 -212060 1.8 SOX13 DRAP1 RARA CTBP1 GATA3 GATA4 NR2F6 MAFK MIXL1 GATAD2A ATP1B1 RPL29P7 LOC101928596 SUMO1P2 GC01M168860
GH01F168906 0.2 ENCODE 17 -198.2 -198232 1.0 ELF3 RAD21 RCOR1 FOS CREM CEBPB ZHX2 NR2F2 ZNF217 MBD2 ATP1B1 LOC101928596 RPL29P7 GC01P168899 GC01M168920
GH01F168835 0.8 ENCODE 16.6 -269.8 -269842 1.2 REST ATP1B1 LINC00970 LOC101928596 GC01M168860 LOC105371606
GH01F168863 0.7 ENCODE 16.1 -241.5 -241508 0.9 ELF3 MLX RAD21 RARA GATA4 CREM MIXL1 SP5 PPARG KAT8 ATP1B1 LOC101928596 RPL29P7 GC01M168860 SUMO1P2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ATP1B1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP1B1 Gene

Chromosome:
1
Start:
169,105,697 bp from pter
End:
169,132,722 bp from pter
Size:
27,026 bases
Orientation:
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:
    P05026-AT1B1_HUMAN
    Recommended name:
    Sodium/potassium-transporting ATPase subunit beta-1
    Protein Accession:
    P05026
    Secondary Accessions:
    • Q5TGZ3

    Protein attributes for ATP1B1 Gene

    Size:
    303 amino acids
    Molecular mass:
    35061 Da
    Quaternary structure:
    • Composed of three subunits: alpha (catalytic), beta and gamma. Interacts with NKAIN1, NKAIN2 and NKAIN4 (By similarity). Interacts with MLC1 (PubMed:22328087). Part of a complex containing MLC1, TRPV4, AQP4 and HEPACAM. Interacts with KIRREL3 (PubMed:25902260).

    Alternative splice isoforms for ATP1B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP1B1 Gene

Post-translational modifications for ATP1B1 Gene

  • Glycosylation at Asn 158, Asn 193, and Asn 265
  • Modification sites at PhosphoSitePlus

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

Protein Domains for ATP1B1 Gene

Graphical View of Domain Structure for InterPro Entry

P05026

UniProtKB/Swiss-Prot:

AT1B1_HUMAN :
  • The C-terminal lobe folds into an immunoglobulin-like domain and mediates cell adhesion properties.
  • Belongs to the X(+)/potassium ATPases subunit beta family.
Domain:
  • The C-terminal lobe folds into an immunoglobulin-like domain and mediates cell adhesion properties.
Family:
  • 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.

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

Clone Products

Flow Cytometry 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP1B1 Gene COMPARTMENTS Subcellular localization image for ATP1B1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 1
endoplasmic reticulum 1
mitochondrion 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 IEA,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

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

(10) Drugs for ATP1B1 Gene - From: HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Potassium Approved Pharma 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Lansoprazole Approved, Investigational Pharma H+,K+-ATPase inhibitor 207
Omeprazole Approved, Investigational, Vet_approved Pharma Activator H+,K+-ATPase inhibitor 337

(6) Additional Compounds for ATP1B1 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
sodium
  • Sodium
  • Sodium ion
7440-23-5
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
PF 3716556
928774-43-0

(4) Tocris Compounds for ATP1B1 Gene

Compound Action Cas Number
Lansoprazole H+,K+-ATPase inhibitor 103577-45-3
Omeprazole H+,K+-ATPase inhibitor 73590-58-6
PF 3716556 Selective H+,K+-ATPase inhibitor 928774-43-0
SCH 28080 H+,K+-ATPase inhibitor 76081-98-6
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

Clone Products

Flow Cytometry 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: - - - -
SP2:
SP3: - - - - - -
SP4: - - - - - -
SP5: -
SP6: - -
SP7: - - - -

Relevant External Links for ATP1B1 Gene

GeneLoc Exon Structure for
ATP1B1
ECgene alternative splicing isoforms for
ATP1B1

Expression for ATP1B1 Gene

mRNA expression in normal human tissues 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:

ATP1B1

SOURCE GeneReport for Unigene cluster for ATP1B1 Gene:

Hs.291196

mRNA Expression by UniProt/SwissProt for ATP1B1 Gene:

P05026-AT1B1_HUMAN
Tissue specificity: Found in most tissues.
genes like me logo Genes that share expression patterns with ATP1B1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
chimpanzee
(Pan troglodytes)
Mammalia ATP1B1 34 35
  • 99.12 (n)
dog
(Canis familiaris)
Mammalia ATP1B1 34 35
  • 89.33 (n)
rat
(Rattus norvegicus)
Mammalia Atp1b1 34
  • 89.22 (n)
mouse
(Mus musculus)
Mammalia Atp1b1 34 16 35
  • 88.78 (n)
cow
(Bos Taurus)
Mammalia ATP1B1 34 35
  • 88.08 (n)
oppossum
(Monodelphis domestica)
Mammalia ATP1B1 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP1B1 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP1B1 34 35
  • 71.73 (n)
lizard
(Anolis carolinensis)
Reptilia ATP1B1 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp1b1 34
  • 67 (n)
African clawed frog
(Xenopus laevis)
Amphibia atp1b1a-prov 34
zebrafish
(Danio rerio)
Actinopterygii atp1b1b 34 35
  • 61.17 (n)
atp1b1a 34 35
  • 58 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10571 34
fruit fly
(Drosophila melanogaster)
Insecta nrv3 34 35
  • 47.05 (n)
Nrv1 36
  • 33 (a)
CG8663 36
  • 30 (a)
nrv1 35
  • 29 (a)
ManyToMany
nrv2 35
  • 23 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009595 34
  • 45.91 (n)
worm
(Caenorhabditis elegans)
Secernentea F55F3.3 36
  • 31 (a)
nkb-3 35
  • 28 (a)
ManyToMany
nkb-1 35
  • 26 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10387 35
  • 27 (a)
OneToMany
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

ENSEMBL:
Gene Tree for ATP1B1 (if available)
TreeFam:
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.org 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 Sequence Context AA Info Type
rs267598155 Uncertain significance 169,130,013(+) AGCCT(C/T)CCAAG reference, missense
rs1040500 -- 169,119,218(-) ATGAG(C/T)ATTTC intron-variant
rs1040501 -- 169,119,076(-) GTTGA(C/T)AGCAC intron-variant
rs1040502 -- 169,118,894(-) CTGAT(A/G)AATCA intron-variant
rs1040503 -- 169,116,983(+) TTTCC(A/G)CCCCC 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)

Relevant External Links for ATP1B1 Gene

Human Gene Mutation Database (HGMD)
ATP1B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP1B1

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

Disorders for ATP1B1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ATP1B1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
megalencephalic leukoencephalopathy with subcortical cysts
  • vacuolating megalencephalic leukoencephalopathy with subcortical cysts
thyrotoxic periodic paralysis
  • thyrotoxic hypokalemic periodic paralysis
hemiplegic migraine
  • migraine hemiplegic
familial hemiplegic migraine
  • fhm
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ATP1B1

Genetic Association Database (GAD)
ATP1B1
Human Genome Epidemiology (HuGE) Navigator
ATP1B1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP1B1
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 A.W. … Chan V. (Clin. Endocrinol. (Oxf) 2006) 3 22 46 64
  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. (Hum. Mol. Genet. 2012) 3 4 64
  3. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PMID: 20453000) Liu C.Y. … Christiani D.C. (Carcinogenesis 2010) 3 46 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  5. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret G.B. … Chakravarti A. (Eur. J. Hum. Genet. 2009) 3 46 64

Products for ATP1B1 Gene

Sources for ATP1B1 Gene

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