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FLASH GENE
Symbol SLC9A6 contributors: mct/npt - updated : 28-06-2013
HGNC name solute carrier family 9 (sodium/hydrogen exchanger), member 6
HGNC id 11079
Corresponding disease
MRXSA mental retardation X-linked , South African type
Location Xq26.3      Physical location : 135.067.582 - 135.129.426
Synonym name
  • solute carrier family 9 (sodium/hydrogen exchanger), isoform 6
  • Na(+)/H(+) exchanger 6
  • sodium/hydrogen exchanger 6
  • Synonym symbol(s) NHE6, KIAA0267, MRSA
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head
    STRUCTURE 61.84 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - DXS1047 - DXS8072 - DXS8057 - DXS8098 - DXS8059 - DXS8041 - DXS8074 - SLC9A6 - DXS1062 - DXS984 - DXS984 - DXS998 - qter
    Authors Gene Map (98)
    Physical map
    LOC159090 Xq26.3 similar to hypothetical protein MGC17347 LOC159091 Xq26.3 hypothetical protein BC017868 DJ473B4 Xq26.3 hypothetical protein dJ473B4 LOC340581 Xq26.3 hypothetical protein LOC340581 LOC392545 X similar to high mobility group protein homolog HMG4 LOC389887 X similar to RIKEN cDNA 1110012O05 CXX1 Xq26 CAAX box 1 DKFZP564B147 Xq26.3 DKFZP564B147 protein LOC159049 Xq26.3 hypothetical LOC159049 FLJ20527 Xq26.3 hypothetical protein FLJ20527 LOC392546 X similar to hypothetical protein FLJ20527 LOC389888 X similar to hypothetical protein FLJ20527 LOC389889 X hypothetical gene supported by BC061642 ZNF75 Xq26 zinc finger protein 75 (D8C6) FLJ23614 Xq26.3 hypothetical protein FLJ23614 LOC392547 X similar to KIAA0445 protein LOC203522 Xq26.3 hypothetical protein LOC203522 LOC392548 X similar to C-ets-2 protein LOC139587 Xq26.3 similar to sarcoma antigen; putative tumor antigen MGC27005 Xq26.3 hypothetical protein MGC27005 SAGE Xq28 hypothetical protein MGC27005 LOC93380 Xq26.3 hypothetical protein LOC93380 SLC9A6 Xq26.3 solute carrier family 9 (sodium/hydrogen exchanger), isoform 6 LOC392549 X similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) LOC139542 Xq26.3 similar to E2F transcription factor 6 isoform a FHL1 Xq26 four and a half LIM domains 1 FLJ12649 Xq26.3 hypothetical protein FLJ12649 GPR112 Xq26.3 G protein-coupled receptor 112 BRS3 Xq26-q28 bombesin-like receptor 3 HTATSF1 Xq26-Xq27 HIV TAT specific factor 1 VGLL1 Xq26.3 vestigial like 1 (Drosophila) TNFSF5 Xq26 tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome) ARHGEF6 Xq26 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 LOC392550 X similar to ribosomal protein L7 LOC392551 X similar to Ras-related protein Rab-28 (Rab-26) RBMX Xq26 RNA binding motif protein, X chromosome LOC389890 X hypothetical gene supported by AF419855; NM_005839 LOC389891 X similar to ENSANGP00000013187 GPR101 Xq25-27.1 G protein-coupled receptor 101
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 4742 - 701 - 2010 20130086
    16 - 4646 - 669 - 2010 20130086
    - - 4620 - 649 - 2010 20130086
    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
    Nervousbrain   highly
    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,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic,microsome
    text
  • localizes to endosomes
  • is also found in the plasma membrane
  • 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