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FLASH GENE
Symbol AQP1 contributors: mct/npt - updated : 11-02-2014
HGNC name aquaporin 1 (Colton blood group)
HGNC id 633
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 splicing 2807 28 269 - 2013 23450058
5 - 2487 - 186 - 2013 23450058
4 - 2662 - 218 - 2013 23450058
4 - 2434 - 154 - 2013 23450058
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   predominantly Homo sapiens
 vesselartery    Homo sapiens
Nervousplexus choroid     Rattus norvegicus
Urinarykidney     Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularsmoothvessel   Homo sapiens
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Cardiovascularendothelial cell Homo sapiens
Lymphoid/Immunelymphocyte
Nervousastrocyte Homo sapiens
Nervousglia
Nervousneuron Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
Text expression of aquaporin 1 was detected in amnion, chorion and placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • six transmembrane segments (TM6)
  • intracellular N and C termini
  • two N-glycosylation sites
  • C-terminal tail of AQP1 contains putative calcium (EF-hand) and protein binding sites
  • conjugated GlycoP
    mono polymer homomer , tetramer
    HOMOLOGY
    Homologene
    FAMILY
  • MIP/aquaporin family
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text
  • at the apical and basolateral membrane of intercalated duct cells of pancreas
  • at the skeletal myofiber plasma membrane (Jimi 2007)
  • highly expressed in tissues with rapid O(2) transport
  • localized to the cytoplasm and cell membrane of some medium and small-sized trigeminal neuron
  • basic FUNCTION
  • involved in transcellular endothelial fluid transport
  • playing a role in cell migration and vessel formation
  • may have a role during osmotic stresses including ischemia/reperfusion and cardiopulmonary by pass
  • ‘‘orthodox’’aquaporin, that transport only water molecules (Sorani 2008)
  • represents an important distinguishing characteristic of olfactory ensheathing glia, which may impart unique function to these glia
  • play pivotal roles in cerebral water movement as essential mediators during edema and fluid accumulation
  • in inner ear plays an important role in the development of motion sickness (MS)
  • critical participate in regulating endothelial permeability and barrier function, providing direct evidence of the contribution of AQP1 to blood vessel formation
  • involvement of AQP1 in oral sensory transduction
  • constitutively open channel that closes mediated by membrane-tension increments
  • plays a crucial role in estrogen-induced tubulogenesis of vascular endothelial cells
  • cooperative role of AQP1 and SLC4A11 in mediating trans-endothelial water reabsorption
  • controls potentially both proliferation and migration in pulmonary arterial smooth muscle cell (PASMC) and the mechanism requires the C-terminal tail of the protein but is independent of water transport or the EF-hand motif
  • endothelial expression of AQP1 characterizes the atheroprotected, non-inflamed vessel wall
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text water channel
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with SCN10A (tunes pain perception by interaction with SCN10A in dorsal root ganglion neurons) (Zhang 2010)
  • NFAT5 is necessary for the regulation of AQP1 expression in the inner medulla of the kidney under hypertonic conditions
  • HIF1A participates in the hypoxic induction of AQP1
  • cell & other
    REGULATION
    activated by in response to hypertonicity
    induced by Estrogen (induces AQP1 expression by activating ERE in the promoter of the AQP1 gene, resulting in tubulogenesis of vascular endothelial cells)
    Other its activity as a cGMP-gated cation channel is regulated by tyrosine phosphorylation in the C-terminal domain
    ASSOCIATED DISORDERS
    corresponding disease(s) CO
    related resource Blood Group Antigen Mutation Database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    alteration of its expression in fetal membranes and placenta may be important in the pathophysiology of isolated oligohydramnios
    constitutional     --low  
    in ischemia, hypoxia and cardioplegia
    constitutional     --over  
    in the cerebrospinal fluid of bacterial meningitis patients
    constitutional     --low  
    in the alveolar microvessels may act as a compensatory mechanism to protect against formation of excessive pulmonary edema in chronic heart failure (CHF
    tumoral     --over  
    may play an important role in the ovarian carcinogenesis, progression, and ascites formation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerbrainglioma/neuroblstoma
    sSuppression of AQP1 expression could be a potential means of reducing invasion of glioma cells
    neurosensorialear 
    appear to be important for the development of novel drug therapies for Meniere's disease and related disorders
    miscelleaneouspain 
    novel target for pain management
    cancerlung 
    potential role of AQP1 or AQP4 as novel therapeutic targets for the management of lung cancer
    miscelleaneouspain 
    potential therapeutic target for migraine with aura
    ANIMAL & CELL MODELS