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FLASH GENE
Symbol SLC4A11 contributors: shn - updated : 15-04-2010
HGNC name solute carrier family 4, sodium borate transporter, member 11
HGNC id 16438
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • 14 transmembrane domains and intracellular N and C termini
  • multiple intracellular phosphorylation sites and 2 extracellular N-glycosylation sites
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to Slc4a11, Mus musculus
    ortholog to slc4a11, Danio rerio
    Homologene
    FAMILY
  • anion exchanger family
  • solute carrier family 4 of bicarbonate transporters
  • CATEGORY transport
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • membrane-bound sodium-borate cotransporter, playing an essential role in cell growth and proliferation in cells
  • essential for borate homeostasis (Park et al, 2004)
  • having a key role in the growth and terminal differentiation of neural crest cells during the formation of the endothelium
  • essential for the generation of the endocochlear potential but not for regulation of potassium concentrations in the endolymph (Groger 2010)
  • major role of SLC4A11 in ion homeostasis and fluid transport across various epithelial barriers (Groger 2010)
  • role for mediating a sodium flux into the thin descending limb of Henle loop to allow countercurrent multiplication by osmotic equilibration (Groger 2010)
  • necessary for cell survival which may explain the pathologic corneal endothelial cell loss in endotheliopathies due to SLC4A11 mutations
  • in corneal endothelium, SLC4A11 displays robust Na&
  • 8314;-coupled OH&
    8315; transport
  • cooperative role of AQP1 and SLC4A11 in mediating trans-endothelial water reabsorption
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CHED2 , CDPD1 , FECD4 , KTCN9
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Slc4a11(-/-) mice manifest corneal oedema and distorted endothelial cells, consistent with loss of a water-flux