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FLASH GENE
Symbol AQP5 contributors: mct - updated : 17-11-2010
HGNC name aquaporin 5
HGNC id 638
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