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FLASH GENE
Symbol AQP5 contributors: mct - updated : 17-11-2010
HGNC name aquaporin 5
HGNC id 638
Corresponding disease
PPK1B palmoplantar keratoderma (hyperkeratosis), Bothnian type
Location 12q13.12      Physical location : 50.355.278 - 50.359.461
Synonym name aquaporin 5, water channel forming integral protein
Synonym symbol(s) AQP-5
DNA
TYPE functioning gene
STRUCTURE 4.33 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
cytosine-phosphate-guanine/HTF
Binding site   transcription factor
text structure . three putative Sp1/Sp3 binding elements (SBEs), which are highly conserved
  • a putative CpG island in the promoter (hypo-methylated state of the promoter leading to increased Sp1 binding may play a role in regulation of cell type-specific expression)
  • MAPPING cloned Y linked   status confirmed
    Physical map
    DHH 12q12-q13.1 desert hedgehog homolog (Drosophila) LIMR 12q13.12 lipocalin-interacting membrane receptor K-ALPHA-1 12q12-q14.3 lipocalin-interacting membrane receptor TUBA3 12q12-12q14.3 lipocalin-interacting membrane receptor TUBA6 12q12-q14 tubulin alpha 6 PRPH 12q12-q13 peripherin TROAP 12p11.1 trophinin associated protein (tastin) LOC338761 12q13.12 similar to C1q-related factor precursor FLJ13236 12q13.12 hypothetical protein FLJ13236 SPATS2 12q13.12 spermatogenesis associated, serine-rich 2 KCNH3 12q13 potassium voltage-gated channel, subfamily H (eag-related), member 3 MCRS1 12q13.1 microspherule protein 1 DKFZP434J0113 12q13.12 hypothetical protein DKFZp434J0113 HYPC 12q hypothetical protein DKFZp434J0113 FMNL3 12q13.12 formin-like 3 TEGT 12q12-q13 testis enhanced gene transcript (BAX inhibitor 1) KIAA1602 12q13.12 KIAA1602 protein LOC144233 12q13.12 hypothetical protein LOC144233 FAIM2 12q13 Fas apoptotic inhibitory molecule 2 AQP2 12q13.1 aquaporin 2 (collecting duct) AQP5 12q13 aquaporin 5 AQP6 12q13 aquaporin 6, kidney specific RACGAP1 12p11.1 Rac GTPase activating protein 1 ACCN2 12q12 amiloride-sensitive cation channel 2, neuronal SMARCD1 12q13.1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 GPD1 12q13.1 glycerol-3-phosphate dehydrogenase 1 (soluble) MGC14288 12q13.12 hypothetical protein MGC14288 LASS5 12q13.12 LAG1 longevity assurance homolog 5 (S. cerevisiae) EPLIN 12q13 LAG1 longevity assurance homolog 5 (S. cerevisiae) LOC121006 12q13.12 hypothetical protein LOC121006 LOC113251 12q13.12 c-Mpl binding protein FLJ34278 12q13.12-q13.13 hypothetical protein FLJ34278 ATF1 12q13.1-q13.2 activating transcription factor 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 1835 - 265 - 1999 10527857
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly Homo sapiens
    Hearing/Equilibriumearinnercochlea   Homo sapiens
    Nervousnervecranial nerve  highly
    Respiratorylungalveoli  highly Homo sapiens
     lung     Homo sapiens
    Skin/Tegumentskin appendagesskin glandsweat gland  
    Urinarykidney   highly Homo sapiens
    Visualeyeanterior segmentcornea   Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningepidermisstratum granulosum  Homo sapiensAdult
    Epithelialbarrier/liningcorneal epithelium highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunedendritic cell
    Lymphoid/Immunelymphocyte
    Respiratoryalveolar cell type 1 Homo sapiens
    cell lineage
    cell lines
    fluid/secretion released into human saliva
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • MIP protein domain
  • HOMOLOGY
    interspecies homolog to rattus Aqp5
    Homologene
    FAMILY
  • MIP family
  • CATEGORY protooncogene , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    text
  • at the apical and basolateral membrane of intercalated duct cells of pancreas
  • in plasma membranes of sweat glands
  • polarized expression in the apical plasma membrane of the outer sulcus cells
  • highly expressed at the apical membrane of alveolar type I epithelial cells
  • distributed in the apical plasma membrane and is known as an exocrine-type water-channel protein because of its involvement in the excretion of water from exocrine glands, such as the salivary gland, lacrimal gland, and sweat gland
  • strongly localized to the plasma membrane in the keratinocytes of the stratum granulosum
  • basic FUNCTION
  • ‘‘orthodox’’aquaporin, that transport only water molecules
  • plays an important role in human carcinogenesis
  • water channel proteins which participate in a wide array of physiological processes and are primary determinants of membrane osmotic water permeability
  • water channel forming integral protein
  • putatively involved in low frequency hearing and in cellular trafficking of lacrimal gland
  • may participate in the regulation of paracellular permeability
  • playing an essential role in secretion, providing potential insight into mechanisms underlying mammalian thermoregulation, tactile sensitivity, and the pathophysiology of hyperhidrosis
  • AQP5 targeting can involve more than one pathway and it can be constitutively expressed on the plasma membrane, irrespective of PKA dependent phosphorylation
  • playing a role for in cell-cell interactions and may contribute to regulation of paracellular permeability
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    activated by GATA6 which mediates transcriptional activation of aquaporin-5 through interactions with Sp1
    Other regulated by shear stress
    ASSOCIATED DISORDERS
    corresponding disease(s) PPK1B
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    defective cellular trafficking of AQP5 in the lacrimal glands of Sjogren syndrome
    tumoral     --over  
    in lung cancer tissue associated with poor prognosis
    Susceptibility
    Variant & Polymorphism
    Candidate gene for Sjögren's syndrome (SJGS)
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurosensorial  
    aquaporins appear to be important for the development of novel drug therapies for Meniere's disease and related disorders
    cancer  
    attractive therapeutic target in carcinogenesis
    ANIMAL & CELL MODELS