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FLASH GENE
Symbol SLC4A7 contributors: mct - updated : 20-08-2015
HGNC name solute carrier family 4, sodium bicarbonate cotransporter, member 7
HGNC id 11033
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • twelve membrane spanning domains protein with intracellular N and C termini
  • a PDZ-binding motif mediating interaction with the CFTR, SLC9A3R1 complex and probably with USH1C
  • HOMOLOGY
    interspecies homolog to rattus Slc4a7 (93.8pc)
    homolog to murine Slc4a7 (94.6pc)
    Homologene
    FAMILY
  • solute carrier family 4, chloride-bicarbonate
  • anion exchanger family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus
    text
  • USH2A, MASS1 and SLC4A7 are co-expressed with the USH1-protein harmonin in the synaptic terminals of both retinal photoreceptors and inner ear hair cells
  • localizes in mitochondria and suppresses the ischaemia-induced activation of the mitochondrial pathway of apoptosis in coronary endothelial cells
  • basic FUNCTION
  • may play a role in bicarbonate salvage in secretory epithelia
  • may also have an associated sodium channel activity
  • stable association of SLC4A7 at the membrane may facilitate constitutive uptake of HCO(3)(-) across the basolateral membrane (BLM)
  • in the kidney medullary thick ascending limb cell line is upregulated under acidic conditions and enhances ammonium transport
  • is electroneutral because it has an apparent stoichiometry of 1:1
  • plays an essential role in intracellular pH regulation and transepithelial HCO(3)(-) movement in the body
  • plays a critical role in pHi regulation in colonic epithelial cells
  • catalyzes the electroneutral movement of 1 Na(+):1 HCO3(-) into kidney cells
  • plays a role in transepithelial HCO3 (-) movement and intracellular pH maintenance in many tissues
  • plays a role in neutralizing intracellular acid loads at the basolateral membrane in cells of the medullary thick ascending limb (mTAL)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with the postsynaptic density protein DLG4 in the brain, and DLG4 increases its channel-like activity while negligibly affecting Na/HCO(3) cotransport
  • physically and functionally associated with a variety of membrane and cytosolic proteins via the binding partners
  • binds to many PDZ proteins, which in turn may allow the transporter to associate with other physiologically important proteins
  • cell & other
    REGULATION
    Other regulated by CFTR (Park 2002)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility may be potential causative gene for breast cancer (Ahmed 2009)
    Variant & Polymorphism SNP allelic variants might alter disposition and/or excretion of drugs and neurotransmitters in brain and periphery in ways that could contribute to differential vulnerabilities to addictions (Ishiguro 2007)
    Candidate gene
  • for USH2B
  • for the contribution to vulnerability to addictions (Ishiguro 2007)
  • Marker
    Therapy target
    ANIMAL & CELL MODELS