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FLASH GENE
Symbol ATP1B1 contributors: mct - updated : 01-07-2014
HGNC name ATPase, Na+/K+ transporting, beta 1 polypeptide
HGNC id 804
Location 1q24      Physical location : 169.075.946 - 169.101.960
Synonym name sodium/potassium-transporting ATPase beta-1 chain
Synonym symbol(s) ATP1B
EC.number 3.6.1.37
DNA
TYPE functioning gene
STRUCTURE 26.00 kb     6 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
text structure
  • a CCG repeat in 5'utr
  • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 2212 - 303 - Kavakan, Matlhagela
    - - 1568 - 301 retinal pigment epithelium Woo, Matlhagela
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas   highly
     parathyroid   highly
    Nervousbrain   highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningretinal pigment epithelium (RPE)  
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY family of Na+/K+ and H+/K+ ATPases beta chain proteins, subfamily of Na+/K+ -ATPases
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • osmotic balance and cell volume stability
  • 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
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport
    text Na+, K+ pump
    PATHWAY
    metabolism
    signaling
    a component
  • complexing with ATP1A1 and maybe others
  • three subunits, a large catalytic subunit (alpha), a smaller glycoprotein subunit (beta), and gamma
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    ATP
    protein
  • binding to ATP1A1
  • 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
  • WFS1 may be necessary for the stability of ATP6V1A and ATP1B1, but does not protect ATP6V1A and ATP1B1 from proteasome-mediated degradation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to essential hypertension
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS