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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
Corresponding disease
CO Colton blood group
Location 7p14.3      Physical location : 30.951.414 - 30.965.131
Synonym name
  • channel-like integral membrane protein, 28kD
  • aquaporin 1 (channel-forming integral protein, 28kDa)
  • urine water channel
  • aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)
  • water channel protein for red blood cells and kidney
  • proximal tubule
    Synonym symbol(s) CHIP28, AQP-CHIP, Aquaporin-CHIP, MGC26324
    DNA
    TYPE functioning gene
    STRUCTURE 13.72 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   transcription factor   HRE
    motif repetitive sequence   ALU   other
    text structure mutationel hot spots and low K values (numbers of substitutions per nucleotide site)
  • hypertonicity response element
  • repetition, various STRs (short tandem repeats)
  • 25,7% of Alu concentrated in several region
  • HIF1A other transcription factors might contribute to this regulatory process
  • binding of KLF2 to the AQP1 promoter
  • MAPPING cloned Y linked N status confirmed
    Physical map
    SES1 7p14.3-p14.1 secernin 1 LOC223082 7p15.1 zinc finger/RING finger 2 TSGA13 7q32 testis specific, 13 KLF14 7q32.3 Kruppel-like factor 14 FKBP14 7p15.3 FK506 binding protein 14, 22 kDa DKFZp586I1420 7p15.1 hypothetical protein DKFZp586I1420 FAPP2 7p21-p11.2 phosphoinositol 4-phosphate adaptor protein-2 CARD4 7p15-p14 caspase recruitment domain family, member 4 Ells1 7p15.1 hypothetical protein Ells1 C7orf24 7p15-p14 chromosome 7 open reading frame 24 LOC392791 7 LOC392791 LOC392792 7 hypothetical gene supported by AK125651; BC039420 GARS 7p15 glycyl-tRNA synthetase LOC223082 7p15.1 zinc finger/RING finger 2 CRHR2 7p21-p15 corticotropin releasing hormone receptor 2 DKFZp586I1420 7p15.1 hypothetical protein DKFZp586I1420 INMT 7p15.3-p15.2 indolethylamine N-methyltransferase LOC392651 7 similar to hypothetical protein FLJ22374 CARD4 7p15-p14 caspase recruitment domain family, member 4 C7orf24 7p15-p14 chromosome 7 open reading frame 24 LOC392987 7 similar to ribosomal protein L27 AQP1 7p14 aquaporin 1 (channel-forming integral protein, 28kDa) GARS 7p15 glycyl-tRNA synthetase MKLN1 7q32 muskelin 1, intracellular mediator containing kelch motifs GHRHR 7p14 growth hormone releasing hormone receptor CRHR2 7p21-p15 corticotropin releasing hormone receptor 2 ADCYAP1R1 7p14 adenylate cyclase activating polypeptide 1 (pituitary) receptor type I INMT 7p15.3-p15.2 indolethylamine N-methyltransferase FLJ22374 7p15.1 hypothetical protein FLJ22374 PODXL 7q32-q33 podocalyxin-like AQP1 7p14 aquaporin 1 (channel-forming integral protein, 28kDa) LOC392793 7 similar to eukaryotic translation elongation factor 1 beta 2; eukaryotic translation elongation factor 1 beta 1 LOC392988 7 similar to ribosomal protein S14 GHRHR 7p14 growth hormone releasing hormone receptor NEUROD6 7p15.3 neurogenic differentiation 6 ADCYAP1R1 7p14 adenylate cyclase activating polypeptide 1 (pituitary) receptor type I LOC223075 7p15.1 hypothetical protein LOC223075 NEUROD6 7p15.3 neurogenic differentiation 6 C7orf16 7p15 chromosome 7 open reading frame 16 PLXNA4 7q32.3 plexin A4 PDE1C 7p15.3 phosphodiesterase 1C, calmodulin-dependent 70kDa LOC223075 7p15.1 hypothetical protein LOC223075 C7orf16 7p15 chromosome 7 open reading frame 16 DKFZp434G0625 7q32.3 hypothetical protein DKFZp434G0625
    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