Candidate genes.

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genesymbol type description chr. startpos endpos synonyms
ATP1B1 protein-coding ATPase Na+/K+ transporting subunit beta 1 1 169075947 169101960 MGC1798, ATP1B
  links NCBI   ENSEMBL  SwissProt  GeneCards   STRING   PubMed  create primers for all transcripts
  KEGG pathways Cardiac muscle contraction, Aldosterone-regulated sodium reabsorption, Proximal tubule bicarbonate reclamation, Salivary secretion, Gastric acid secretion
  PFAM Sodium / potassium ATPase beta chain
  InterPro domains Sodium/potassium-transporting ATPase subunit beta, Sodium/potassium-transporting ATPase subunit beta, chordates
  paralogs ATP1B2 (37%), ATP1B3 (34%), ATP4B (28%), ATP1B4 (32%)
CLONING From HeLa cells, Kawakami et al. (1986) isolated a cDNA clone that covered the entire coding region of the beta subunit of Na,K-ATPase. Remarkably, 61% homology to the amino acid sequence of the Torpedo (electric ray) counterpart was demonstrated. - Pseudogenes Lane et al. (1989) isolated clones for a processed pseudogene designated ATP1BL1. Whether this is the same as the ATP1BL1 gene mapped to chromosome 4 by Yang-Feng et al. (1988) was not certain. GENE STRUCTURE Lane et al. (1989) found that the ATP1B gene spans about 26.7 kb of genomic DNA and includes 24 kb of intron sequence. The complete message is encoded by 6 exons ranging in size from 81 to 1,427 bp. MAPPING Yang-Feng et al. (1988) assigned the ATP1B gene to 1q by Southern analysis of DNA from rodent/human somatic cell hybrids. In the course of construction of a physical map of human 1q23-q25, Oakey et al. (1992) mapped ATP1B near the middle of this segment. The corresponding gene in the mouse is located on chromosome 1 (Kent et al., 1987). By linkage studies in interspecific backcrosses of Mus spretus and Mus musculus domesticus, Seldin (1989) also demonstrated that the homologous gene is located on mouse chromosome 1. BIOCHEMICAL FEATURES - Crystal Structure Morth et al. (2007) presented the x-ray crystal structure at 3.5-angstrom resolution of the pig renal sodium/potassium ATPase (Na+,K(+)-ATPase) with 2 rubidium ions bound (as potassium congeners) in an occluded state in the transmembrane part of the alpha subunit (see ATP1A1, 182310). Several of the residues forming the cavity for rubidium/potassium occlusion in the Na+,K(+)-ATPase are homologous to those binding calcium in the calcium-ion ATPase of sarcoendoplasmic reticulum (SERCA1; 108730). The beta and gamma (ATP1G1; 601814) subunits specific to the Na+,K(+)-ATPase are associated with transmembrane helices alpha-M7/alpha-M10, and alpha-M9, respectively. The gamma subunit corresponds to a fragment of the V-type ATPase c subunit. The carboxy terminus of the alpha subunit is contained within a pocket between transmembrane helices and seems to be a novel regulatory element controlling sodium affinity, possibly influenced by the membrane potential. Crystal structures of the potassium-bound form of the Na+/K(+)-ATPase pump revealed an intimate docking of the alpha-subunit carboxy terminus at the transmembrane domain (e.g., Morth et al., 2007). Poulsen et al. (2010) showed that this element is a key regulator of a theretofore unrecognized ion pathway. Models of P-type ATPases operated with a single ion conduit through the pump, but the data of Poulsen et al. (2010) suggested an additional pathway in the Na+/K(+)-ATPase between the ion-binding sites and the cytoplasm. The C-terminal pathway allows a cytoplasmic proton to enter and stabilize site III when empty in the potassium-bound state, and when potassium is released the proton will also return to the cytoplasm, thus allowing an overall asymmetric stoichiometry of the transported ions. The C terminus controls the gate to the pathway. Its structure is crucial for pump function, as demonstrated by at least 8 mutations in the region that cause severe neurologic diseases. This novel model for ion transport by the Na+/K(+)-ATPase was established by electrophysiologic studies of C-terminal mutations in familial hemiplegic migraine (602481) and was further substantiated by molecular dynamics simulations. Poulsen et al. (2010) considered a similar ion regulation likely to apply to the H+/K(+)-ATPase and the Ca(2+)-ATPase. GENE FUNCTION Using yeast 2-hybrid analysis, Zatyka et al. (2008) found that the C-terminal domain of WFS1 (606201) bound the C-terminal domain of ATP1B1. The interaction was confirmed by reciprocal coimmunoprecipitation analysis of proteins expressed in transfected COS-7 cells and endogenous proteins in human and mouse cell lines. Fibroblasts from Wolfram syndrome (222300) patients with 2 different WFS1 mutations showed reduced ATP1B1 levels. Conversely, knockdown of Atp1b1 expression in a mouse insulinoma cell line led to reduced Wfs1 expression. Zatyka et al. (2008) concluded that interaction with WFS1 may be important for ATP1B1 maturation in the endoplasmic reticulum and that loss of this interaction may contribute to the pathology seen in Wolfram syndrome. MOLECULAR GENETICS Chang et al. (2007) reported genomewide linkage and candidate gene-based association studies that demonstrated a replicated linkage peak for blood pressure regulation on human chromosome 1q23-q32, homologous to mouse and rat quantitative trait loci (QTLs) for blood pressure. The region contained at least 3 genes associated with blood pressure level in multiple samples: ATP1B1, RGS5 (603276), and SELE (131210). Individual variants in these 3 genes accounted for 2- to 5-mm Hg differences in mean systolic blood pressure, and the cumulative effect reached 8 to 10 mm Hg. Because the associated alleles in these genes are relatively common (frequency more than 5%), these 3 genes are important contributors to elevated blood pressure in the population at large. Chang et al. (2007) viewed the probable relationship between each of these genes and blood pressure regulation.
See report at OMIM's website.

  • Carboxy-terminus of HKalpha(2) facilitates proper folding of tHKalpha(2)/beta(1) complex allowing translocation of heterodimer to plasma membrane where potassium uptake occurs. Otherwise, alpha/beta complex is destined for degradation.
  • N-glycans linked to the beta2 subunit of the Na,K-ATPase contain apical sorting information, and the high abundance of the beta2 subunit isoform along with the absence of the beta1 subunit, is responsible for the unusual apical location of the Na,K-ATPase
  • Data show that deglycosylation in polarized hepatic cells by drugs, or by site-directed mutagenesis of the N-linked-glycosylation residues, cause the Na+/K+-ATPase beta-subunit to traffic from the native basolateral to the apical/canalicular domain.
  • Observational study of gene-disease association. (HuGE Navigator)
  • these studies are indicative of a synergism between Sp1 and CREB in mediating regulation of Na-K ATPase beta1 subunit by PGRE3; while regulation occurring through PGRE1 also involves Sp1 and CREB.
  • Study identifies an interaction between Wolframin and Na+/K+ ATPase beta1 subunit in transfected Cos7 cells, and between endogenous proteins in placental, neuroblastoma and MIN6 pancreatic beta-cell lines.
  • E2A and Na/K-ATPase beta1 subunit expression in epithelial cells are regulated by interactions between these proteins.
  • Genome-wide association study of gene-disease association. (HuGE Navigator)
  • Reduced expression of the Na,K-beta(1) protein is associated with oxaliplatin resistance in cancer cells.
  • Propose that kinase-dependent regulation of the Na(+)-K(+) pump occurs via glutathionylation of its beta(1) subunit (ATP1B1) at Cys46.
  • ATP1B1 may confer susceptibility to BP regulation and hypertension in this Chinese population.
  • Silencing of ATP1B1 gene can enhance the proliferation and migration capability of SGC-7901 adenocarcinoma cells.
  • Na(+)-K(+) ATPase B1 can synergize with adriamycin and reverse drug resistance in MCF7 cells.
  • Measured properties of the purified carboxy-terminal lobe suggest that the fragment is correctly folded and compatible with the proposed model of Na,K-ATPase beta1 subunit.
  • Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
  • through its interaction with ATP1B1, MLC1 is involved in the control of intracellular osmotic conditions and volume regulation in astrocytes, opening new perspectives for understanding the pathological mechanisms of MLC disease.
  • Data indicate that CypB through its interaction with Na/K-beta1 might regulate maturation and trafficking of the pump through the secretory pathway.
  • Results identified that the beta1 subunit of the host Na(+)/K(+)-ATPase beta1 subunit (ATP1B1) interacts with the cytoplasmic domain of both the influenza A and B virus M2 and BM2 proteins.
  • Ouabain could up-regulate Na+, K(+)-ATPase alpha1 subunit expression and reduce beta1-subunit expression which mediated signal transduction and decreased cell-cell adhesions and induced ECV304 cell death.
  • FXYD1 raises the affinity of the human alpha1beta1 isoform of Na,K-ATPase for Na ions
  • interactions between the beta subunits of neighboring cells maintain integrity of intercellular junctions
  • examined polymorphisms in three genes (ATP1B1, RGS5 and SELE) in relation to hypertension and blood pressure in a cohort of African-Americans
  • Data show that protein kinase A (PKA) phosphorylation has a drastic impact on Na(+)/K(+)-ATPase (NKA) structure and dynamics
  • Changes were found in mRNA and protein expressions of Na(+)/K(+)-ATPase subunits in LG from term pregnant rabbits and these changes suggest a role in the pregnancy-related LG secretion changes and dry eye symptoms observed in these animals.
  • NRF-1 regulates Atp1a1 and Atp1b1 and are important in mediating the energy generation and neuronal activity.
  • A polymorphic 3'UTR element in ATP1B1 regulates alternative polyadenylation and is associated with blood pressure.
  • ATP1B1 is epigenetically silenced by promoter methylation in both renal cell carcinoma (RCC) patients' tissues and cell lines.
  • Activities of AE1 and the sodium pump are coregulated in kidney.
  • Impaired regulation and compromised activity of ion channel proteins contribute to the pathophysiology of vascular dementia.
  • Na,K-ATPase b1-subunit is a target of the Shh signaling pathway and loss of b1-subunit expression may contribute to tumor development and progression not only in carcinoma but also in medulloblastoma, a tumor of neuronal origin.
  • Overexpression of ATP1B1 is associated with cytogenetically normal acute myeloid leukemia.
  • the ratio between FXYD5 and alpha1-beta1 heterodimer determines whether the Na,K-ATPase acts as a positive or negative regulator of intercellular adhesion.
  • Our study describes the potent inhibition of Chikungunya virus and related alphaviruses by the cardiac glycoside digoxin and demonstrates a function for the sodium-potassium ATPase in Chikungunya virus infection.
  • Expression of miR-26a and miR-29a was significantly down regulated in leukoplakia and cancer tissues but up regulated in lichen planus tissues. Expression of target genes such as, ADAMTS7, ATP1B1, COL4A2, CPEB3, CDK6, DNMT3a and PI3KR1 was significan [...]
  • This study reports molecular dynamic simulations of the human NaK-ATPase alpha1 beta 1 isoform embedded into 1,2-oleoylphosphatidylcholine bilayer.
  • Novel Single Nucleotide Polymorphism at ATP1B1 implicate gene regulatory dysfunction in QT prolongation in African and Hispanic Americans.
  • miR-192-5p in the kidney protects against the development of hypertension, which is mediated, at least in part, by targeting Atp1b1.
  • These findings reveal that the downregulation of the Na,KATPase beta1 subunit enhances the expression of profibrotic molecules in alveolar epithelial cells and may contribute to Idiopathic pulmonary fibrosis pathogenesis.
  • Na, K-ATPase alpha1 and beta1 subunits are degraded in lysosomes by RNF183-mediated ubiquitination of beta1 subunit.
  • Na/K-ATPase beta1-subunit associates with neuronal growth regulator 1 (NEGR1) to participate in intercellular interactions.
  • The Na+, K+-ATPase beta1 subunit regulates epithelial tight junctions via MRCKalpha.
  • Inducible ATP1B1 Upregulates Antiviral Innate Immune Responses by the Ubiquitination of TRAF3 and TRAF6.
  •   MGD
  • cardiovascular system phenotype
  • mortality/aging
  • normal phenotype
  • homeostasis/metabolism phenotype
  • muscle phenotype
  •   transcripts ENST00000367816: 2608 bases (protein_coding)
    ENST00000367815: 1883 bases (protein_coding)
    ENST00000499679: 1738 bases (protein_coding)
    ENST00000367813: 1382 bases (protein_coding)
    ENST00000494797: 718 bases (protein_coding)
      interactions (STRING)
    ABCB8: (textmining 569)    ACE2: (textmining 512)    ADCYAP1: (textmining 451)    ADD1: (textmining 508)   
    AMACR: (textmining 433)    ARL4C: (textmining 625)    ATP1A2: (textmining 796)    ATP2B4: (textmining 505)   
    ATP6V1H: (textmining 681)    BACE1: (experimental 625)    BNIP3: (textmining 452)    BSND: (textmining 419)   
    BTG1: (textmining 530)    C1orf226: (textmining 514)    CACNA1B: (textmining 480)    CCDC152: (textmining 436)   
    CCNE1: (textmining 484)    CEACAM5: (textmining 561)    CKS1B: (textmining 502)    CYP4A11: (textmining 451)   
    DPEP1: (textmining 479)    EGFR: (experimental 547)    ESAM: (textmining 451)    ESRRA: (textmining 475)   
    FOSL1: (textmining 401)    FXYD1: (textmining,experimental 606)    FXYD7: (textmining,experimental 642)    GSK3B: (textmining 458)   
    HPGD: (textmining 486)    KCNB2: (textmining 567)    KCNC1: (textmining 425)    KCND2: (textmining 428)   
    KCNN1: (textmining 613)    KCNN3: (textmining 477)    KCNN4: (textmining 477)    KCNQ1: (textmining 532)   
    KCNQ2: (textmining 452)    LGALS8: (textmining 539)    NFIB: (textmining 548)    NKX3-1: (textmining 491)   
    NOS1AP: (textmining 514)    NPY1R: (textmining 583)    PLTP: (textmining 416)    PTGIS: (textmining 451)   
    PXK: (textmining 451)    RGS5: (textmining 907)    RPL27A: (textmining 579)    RPS11: (textmining 573)   
    S100A1: (textmining 486)    SCN2B: (textmining 609)    SCNN1A: (textmining 479)    SELE: (textmining 863)   
    SERPINB8: (textmining 491)    SLC12A2: (textmining 623)    SLC9A1: (textmining 737)    SPINT2: (textmining 486)   
    THRSP: (textmining 508)    TM4SF1: (textmining 583)    TMEFF2: (textmining 460)    UBC: (experimental 635)   
  • response to hypoxia
  • sodium:potassium-exchanging ATPase activity
  • protein binding
  • plasma membrane
  • sodium:potassium-exchanging ATPase complex
  • caveola
  • ATP catabolic process
  • transport
  • cell adhesion
  • blood coagulation
  • metabolic process
  • basolateral plasma membrane
  • apical plasma membrane
  • ion transmembrane transport
  • sodium ion transmembrane transport
  • leukocyte migration
  • transmembrane transport
  • potassium ion transmembrane transport
  • 1 gene(s) (29.833 ms).


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    citing GeneDistiller

    If you feel that GeneDistiller has helped you in your research, please cite the following publication:

    Seelow D, Schwarz JM, Schuelke M.
    GeneDistiller--distilling candidate genes from linkage intervals.
    PLoS ONE. 2008;3(12):e3874. Epub 2008 Dec 5.

    entitylast update (YYYY-MM-DD)
    Disease Ontology2020-06-29
    Ensembl 84 (GRCh73)2016-06-14
    Entrez gene history2021-10-28
    Entrez gene positions2021-10-28
    Entrez gene RIFS2021-10-28
    Entrez genes2021-10-28
    Entrez gene synonyms2021-10-28
    Human Phenotype Ontology2015-12-22