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FLASH GENE
Symbol AQP3 contributors: mct/npt - updated : 11-02-2014
HGNC name aquaporin 3 (Gill blood group)
HGNC id 636
Corresponding disease
GBG GIL blood group
Location 9p13      Physical location : 33.441.161 - 33.447.590
Synonym name
  • aquaporin 3, water channel forming integral protein
  • Gill blood group
  • aquaglyceroporin-3
    • Synonym symbol(s) GIL
    DNA
    TYPE functioning gene
    STRUCTURE 6.43 kb     6 Exon(s)    1 Copie(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (TATA box)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1835 31.4 292 - 2008 18601899
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestine    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerythrocyte
    Blood/Hematopoieticleukocyte
    Lymphoid/Immunedendritic cell
    Lymphoid/Immunelymphocyte
    not specificfibroblast
    Skin/Tegumentepidermal secretory cell
    Skin/Tegumentkeratinocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    Text expression of aquaporin 3 was detected in amnion, chorion and placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • major intrinsic protein (MIP motif)
  • basolateral sorting motif "YRLL
  • C-terminal region of AQP3 is longer compared to AQP10
    • mono polymer dimer
    HOMOLOGY
    interspecies homolog to murine Aqp3
    Homologene
    FAMILY
  • transmembrane channel MIP family
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • forming integral protein in the basolateral membranes
  • selectively targeted to the basolateral membrane
    • basic FUNCTION
  • aquaglyceroporins, that transport glycerol
    • and small solutes in addition to water
  • providing the exit pathway to interstitium
  • involved in water absorption across colonic surface cells
  • playing a role in water-clamp viable layers of the epidermis in order to improve the hydratation of the epidermis below the stratum corneum
  • facilitates water and glycerol movement into and out of the skin
  • playing a role in skin fibroblast cell migration, which occurs during normal wound healing
  • having little influence on keratinocyte differentiation, but is involved in AQP3-facilitated cell proliferation
  • water/glycerol-transporting protein that is strongly expressed at the plasma membranes of keratinocytes in skin
  • required for NADPH Oxidase-derived H2O2 signaling upon growth factor stimulation
  • playing an active role in E-cadherin expression of cell-to-cell contacts
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS excretion
    text water and glycerol channel
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with EGFR (EGFR-mediated expression of aquaporin-3 is involved in skin fibroblast migration)
    • cell & other
    REGULATION
    Other regulated by PKC (PKC modulates the trafficking of AQP3)
    ASSOCIATED DISORDERS
    corresponding disease(s) GBG
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in vitiliginous keratinocytes might be responsible for their reduced survival
    constitutional     --low  
    caused by TNF might be related to the phenotypes of skin inflammation, such as dry skin
    constitutional     --other  
    alteration of its expression in fetal membranes and placenta may be important in the pathophysiology of isolated oligohydramnios
    Susceptibility to Ménière disease
    Variant & Polymorphism SNP
  • variant rs591810 in AQP3 were found in patients with Ménière disease
    • Candidate gene
    Marker
    Therapy target aquaporins appear to be important for the development of novel drug therapies for Meniere's disease and related disorders
    ANIMAL & CELL MODELS