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FLASH GENE
Symbol AQP9 contributors: mct - updated : 25-10-2013
HGNC name aquaporin 9
HGNC id 643
DNA
TYPE functioning gene
STRUCTURE 47.74 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site   hormone
text structure glucocorticoid-responsive elements
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 3033 31.4 295 - 2005 1612691
  • aquaglyceroporin
  • with a particularly broad substrate specificity
  • - - - 25 - expressed in brain mitochondria 2005 1612691
    enriched in mitochondrial inner membranes
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
     liver   lowly
    Nervousbrain    
    Reproductivemale systemmale genital tractepididymis  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    Nervousadrenergic cell Homo sapiens
    Nervousastrocyte Homo sapiens
    Skeletonosteoclast Homo sapiens
    cell lineage only aquaporin expressed in osteoclast lineage cells (
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six transmembrane regions, intracellular N and C termini characteristic of aquaporin
  • C-terminal portion contains a putative PDZ binding motif (SVIM), essential for interaction with SLC9A3R1
  • HOMOLOGY
    interspecies homolog to rattus Aqp9
    intraspecies homolog to AQP3,AQP7
    Homologene
    FAMILY major intrinsic protein family
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    text
  • co-localize with SLC9A3R1 in the apical membrane of principal cells of the epididymis and the vas deferens
  • present in plasma membrane and mitochondria of astrocytes and catecholaminergic neurons, suggesting that it plays a role in the energetic status of these cells
  • the display of AQP9 at the plasma membrane depends on AQP9 phosphorylation, which appeared to be regulated through a RAC1-dependent pathway
  • basic FUNCTION
  • aquaglyceroporins, that transport glycerol
  • and small solutes in addition to water (Sorani 2008)
  • rapid cellular uptake or exit of metabolites with minimal osmotic perturbation
  • mediates passage of a wide variety of non-charged solutes
  • including carbamides, polyols, purines, and pyrimidines in a phloretin- and mercury-sensitive manner
  • major aquaglyceroporin of the epididymis, liver, and peripheral leukocytes
  • plays an active role in neutrophil volume regulation and migration
  • is the primary route of hepatocyte glycerol uptake for gluconeogenesis
  • plays an important role in the development of microgravity-induced bone loss
  • facilitates diffusion of water and energy substrates such as glycerol and monocarboxylates '
  • urea channel, involved in hepatocyte urea release, and constituting primary but redundant urea facilitator in hepatocytes, potentially
  • facilitates both single cell and multi-cellular migration, and increases the cellular density in the monolayer
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS facilitated diffusion transport
    text
  • water
  • urea
  • neutral solute channel
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other regulation by CFTR that would facilitate the fine control of water and solute transport in the male reproductive tract
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in amnion and chorion, significantly increased in idiopathic polyhydramnios group, but expression in the placenta was significantly decreased
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    osteoarticularbone 
    may be a potential target for the prevention or management of microgravity-induced bone loss
    ANIMAL & CELL MODELS