Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol AQP9 contributors: mct - updated : 25-10-2013
HGNC name aquaporin 9
HGNC id 643
Location 15q21.3      Physical location : 58.430.407 - 58.478.110
Synonym name
  • aquaglyceroporin-9
  • small solute channel 1
  • Synonym symbol(s) SSC1, AQP-9, HsT17287
    DNA
    TYPE functioning gene
    STRUCTURE 47.74 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   hormone
    text structure glucocorticoid-responsive elements
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC145788 15q21.1 hypothetical LOC145788 DYX1C1 15q21 hypothetical LOC145788 PYGO1 15q21.1 pygopus 1 FLJ25756 15q21.1 hypothetical protein FLJ25756 NEDD4 15q15-q21.2 neural precursor cell expressed, developmentally down-regulated 4 FLJ12994 15q21.2 hypothetical protein FLJ12994 LOC390586 15 similar to L-3-hydroxyacyl-CoA dehydrogenase LOC161577 15q21.2 LOC161577 protein MNS1 15q21.2 meiosis-specific nuclear structural protein 1 FLJ20086 15q21.2 hypothetical protein FLJ20086 LOC145783 15q21.2 hypothetical protein LOC145783 TCF12 15q21 transcription factor 12 (HTF4, helix-loop-helix transcription factors 4) LOC388124 15 LOC388124 FLJ14957 15q21.2 hypothetical protein FLJ14957 FLJ30973 15q21.2 hypothetical protein FLJ30973 GRINL1A 15q22.1 glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A ALDH1A2 15q21.2 aldehyde dehydrogenase 1 family, member A2 AQP9 15q22.1-q22.2 aquaporin 9 LOC145780 15q21.2 hypothetical LOC145780 LIPC 15q21-q22.2 lipase, hepatic ADAM10 15q22 a disintegrin and metalloproteinase domain 10 KIAA1164 15q21.3 hypothetical protein KIAA1164 LOC390587 15 similar to zinc finger protein 444; endothelial zinc finger protein 2 FLJ13213 15q21.3 hypothetical protein FLJ13213 RNF111 15q21 ring finger protein 111 CCNB2 15q21.3 cyclin B2 MYO1E 15q21-q22 myosin IE LDHL 15q21.3 lactate dehydrogenase A -like LOC390588 15 similar to TGF beta-inducible nuclear protein 1 (Hairy cell leukemia protein 1) (HUSSY-29) MGC26690 15q21.3 hypothetical protein MGC26690 GCNT3 15q21.3 glucosaminyl (N-acetyl) transferase 3, mucin type GTF2A2 15q21.2 general transcription factor IIA, 2, 12kDa BNIP2 15q11.2 BCL2/adenovirus E1B 19kDa interacting protein 2 LOC145767 LOC390589 15 similar to ATP-dependent RNA helicase DDX18 (DEAD-box protein 18) (Myc-regulated DEAD-box protein) (MrDb) FOXB1 15q21-q26 forkhead box B1 ANXA2 15q21-q22 annexin A2 NARG2 15q21.3 NMDA receptor-regulated gene 2 RORA 15q21-q22 RAR-related orphan receptor A HCP38 15q21.3 cytochrome c, somatic pseudogene
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 3033 31.4 295 - 2005 1612691
  • aquaglyceroporin
  • with a particularly broad substrate specificity
  • - - - 25 - expressed in brain mitochondria 2005 1612691
    enriched in mitochondrial inner membranes
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
     liver   lowly
    Nervousbrain    
    Reproductivemale systemmale genital tractepididymis  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    Nervousadrenergic cell Homo sapiens
    Nervousastrocyte Homo sapiens
    Skeletonosteoclast Homo sapiens
    cell lineage only aquaporin expressed in osteoclast lineage cells (
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six transmembrane regions, intracellular N and C termini characteristic of aquaporin
  • C-terminal portion contains a putative PDZ binding motif (SVIM), essential for interaction with SLC9A3R1
  • HOMOLOGY
    interspecies homolog to rattus Aqp9
    intraspecies homolog to AQP3,AQP7
    Homologene
    FAMILY major intrinsic protein family
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    text
  • co-localize with SLC9A3R1 in the apical membrane of principal cells of the epididymis and the vas deferens
  • present in plasma membrane and mitochondria of astrocytes and catecholaminergic neurons, suggesting that it plays a role in the energetic status of these cells
  • the display of AQP9 at the plasma membrane depends on AQP9 phosphorylation, which appeared to be regulated through a RAC1-dependent pathway
  • basic FUNCTION
  • aquaglyceroporins, that transport glycerol
  • and small solutes in addition to water (Sorani 2008)
  • rapid cellular uptake or exit of metabolites with minimal osmotic perturbation
  • mediates passage of a wide variety of non-charged solutes
  • including carbamides, polyols, purines, and pyrimidines in a phloretin- and mercury-sensitive manner
  • major aquaglyceroporin of the epididymis, liver, and peripheral leukocytes
  • plays an active role in neutrophil volume regulation and migration
  • is the primary route of hepatocyte glycerol uptake for gluconeogenesis
  • plays an important role in the development of microgravity-induced bone loss
  • facilitates diffusion of water and energy substrates such as glycerol and monocarboxylates '
  • urea channel, involved in hepatocyte urea release, and constituting primary but redundant urea facilitator in hepatocytes, potentially
  • facilitates both single cell and multi-cellular migration, and increases the cellular density in the monolayer
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS facilitated diffusion transport
    text
  • water
  • urea
  • neutral solute channel
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other regulation by CFTR that would facilitate the fine control of water and solute transport in the male reproductive tract
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in amnion and chorion, significantly increased in idiopathic polyhydramnios group, but expression in the placenta was significantly decreased
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    osteoarticularbone 
    may be a potential target for the prevention or management of microgravity-induced bone loss
    ANIMAL & CELL MODELS