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FLASH GENE
Symbol SLC9A6 contributors: mct/npt - updated : 28-06-2016
HGNC name solute carrier family 9 (sodium/hydrogen exchanger), member 6
HGNC id 11079
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Endocrineparathyroid   highly
Hearing/Equilibriumear   highly
Nervousplexus choroid   highly Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Skeletonosteoblast Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES acid Hydrophilic
STRUCTURE
motifs/domains
  • twelve transmembrane segments protein
  • a large acidic and hydrophilic cytoplasmic C terminal domain
  • HOMOLOGY
    interspecies homolog to Drosophila Nhe3
    homolog to C.elegans nhx-5
    homolog to yeast S.cerevisiae Nha2
    Homologene
    FAMILY
  • solute carrier protein family 9,sodium/hydrogen exchange
  • monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic,microsome
    text
  • localizes to endosomes
  • is also found in the plasma membrane
  • seem exclusively localized in intracellular organelles such as mitochondrial
  • basic FUNCTION
  • playing a role in electroneural exchange of protons for Na+ and K+ across the mitochondrial inner membrane
  • contributing to organellar volume and calcium homeostasis
  • playing a role in pH regulation
  • regulatory protein in the endosomal recycling system in apical surface development
  • in mineralizing osteoblasts, slightly basic basal pHi is maintained, and external acid load is dissipated, by high-capacity Na(+) /H(+) exchange via SLC9A1 and SLC9A6
  • regulates potentially clathrin-dependent endocytosis of transferrin via pH regulation
  • may play a unique, previously unrecognized, role at glutamatergic synapses that are important for learning and memory
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS mitochondrial transport
    text Na+/H+ antiporter
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • association with RACK1 (RACK1 plays a role in regulating the distribution of SLC9A6 between endosomes and the plasma membrane and contributes to maintaining luminal pH of the endocytic recycling compartments)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRXSA
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    Angelman-like syndrome
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Slc9a6 knockout mice displayed a discrete clinical phenotype attributable to motor hyperactivity and cerebellar dysfunction