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AQP1 (aquaporin 1 (Colton blood group))

Written2019-02Jean Loup Huret
jean-loup.huret@atlasgeneticsoncology.org

Abstract Review on aquaporin-1 (AQP1), with data on DNA, on the protein encoded, and where the gene is implicated.

Keywords Aquaporin-1; AQP1; Tissue water balance; Cell migration; Cell division; Cell adhesion; Cellular volume regulation; Apoptosis; Angiogenesis; Cell cycle; Cell proliferation; Cell membrane; Channel; Cell junction; WNT

(Note : for Links provided by Atlas : click)

Identity

Alias_namesCO
Colton blood group
aquaporin 1 (channel-forming integral protein, 28kDa)
aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)
aquaporin 1
Alias_symbol (synonym)CHIP28
Other alias
HGNC (Hugo) AQP1
LocusID (NCBI) 358
Atlas_Id 46249
Location 7p14.3  [Link to chromosome band 7p14]
Location_base_pair Starts at 30911694 and ends at 30925517 bp from pter ( according to hg19-Feb_2009)  [Mapping AQP1.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
AQP1/CHI3L2AQP1/CFBAQP1/TYK2
AQP1/ARFGEF2ADCYAP1R1/AQP1TRA2A/AQP1

DNA/RNA

Transcription There are various splicing forms. Canonical form transcript (hg38), including UTRs: chr7:30,911,694 - 30,925,516, size: 13,823bp on forward (+) strand; coding region: chr7:30,911,910 - 30,923,629, size: 11,720bp, according to UCSC. Four exons: exon1 (nt 1 - 600) codes for amino acids (aa) 1-128, exon2 (nt 10373 - 10537) for aa 129-183; exon3 (nt 10871 - 10951) for aa 184-210, and exon4 (nt 11757 - 13823) for aa 211-269 (nextProt).

Protein

Note Aquaporins are a family of hydrophobic transmembrane channel proteins involved in transport of water and small molecules in response to osmotic gradients. They are distributed throughout many tissues, with various known roles of production, secretion, reabsorption and regulation of water, but also of cell migration (angiogenesis), signal transduction, and cell proliferation. There are 14 AQPs in humans (and 5 pseudogenes): MIP (previously called AQP0), AQP1, AQP2, AQP3, AQP4, AQP5, AQP6, AQP7, AQP8, AQP9, AQP10, AQP11, AQP12Aand AQP12B. They are classified into two families: orthodox aquaporins, that transport water only, and aquaglyceroporins (AQP3, AQP7 and AQP9), which also transport glycerol, urea and other small molecules. AQPs form homo-tetramers (Review in Papadopoulos and Saadoun, 2015). The monomeric units of AQPs are ~30 kDa proteins and consist of 6 transmembrane α-helices (M1, M2, M4 to M6 and M8), 2 intramembrane half helices (M3 and M7), and 5 connecting loops (loops A to E) (Review in Verkman et al., 2014). They bear conserved intramembrane Asn-Pro-Ala (NPA) sequence motifs in the intramembrane domains, and six tilted transmembrane helices per monomer, with linkers (loops A to E). The NPA motifs act as hydrogen-bond donors and acceptors that coordinate the transport of water through the pore (Verkman et al., 2014).
 
  Figure 1. Aquaporin-1 (AQP1) gene exons and protein domains.
Description Aquaporin-1 canonical form: 269 aa; 28.526kDa; other isoforms; 218, 186, and 154 aa. AQP1 is a transmembrane protein, with a N-term and a C-term cytoplasmic domains: amino acids 2 - 7 (Cytoplasmic), 8 - 36 (Transmembrane), 37 - 48 (Extracellular ("Loop A")), 49 - 66 (Transmembrane), 67 - 70 (Cytoplasmic), 71 - 84 (Intramembrane), 85 - 94 (Cytoplasmic ("Loop B"), 95 - 115 (Transmembrane), 116 - 136 (Extracellular ("Loop C")), 137 - 155 (Transmembrane), 156 - 166 (Cytoplasmic ("Loop D")), 167 - 183 (Transmembrane), 184 - 186 (Extracellular ("Loop E")), 187 - 200 (Intramembrane), 201 - 207 (Extracellular), 208 - 228 (Transmembrane), 229 - 269 (Cytoplasmic) (Figure. 1).

Helical subunits in Loop B and E juxtapose to form a water pore in the monomere. The central pore of the homotetramer (Figure. 2) would be a path for ion and gas (Review in Tomita et al., 2017). Remarkable sites: (Figure. 1)
NPA: aa 76-78, 192-194
N-myristoylation sites (role in membrane targeting): aa 30-35, 40-45, 57-62, 82-87, 104-109, 114-119, 121-126, 132-137, 136-141, 173-178, 190-195, 219-224.
N-glycosylation sites: aa 42-45, 205-208.
Protein kinase C phosphorylation sites: aa 157 - 159, 239-241 (Thr 157 and 239); Casein kinase II phosphorylation site: aa 262 - 265 (Ser 262).
Poly Arg (for preventing proton conduction): aa 159-162.
 
  Figure 2. Aquaporins monomere and tetramere. Aquaporins are transmembrane proteins involved in transport of water and small molecules in response to osmotic gradients (water channels).
Expression AQPs are widely expressed. AQP1 is the main water channel in human (especially erythrocytes), but its function in water permeation can be alternatively supported by urea transporters SLC14A1 and SLC14A2 and glucose transporter SLC2A1 (GLUT1). The CO2-transporting function of APQ1 is replaceable by RHAG gas channel. (Hsu 2018). AQP1 is expressed in all tissues, in particular in renal tubules, exocrine pancreas, neuropil (synaptically dense regions of brain), bile ducts, corneal endothelium, bone marrow, myoepithelial cells of breast and endothelial cells (The Human Protein Atlas). AQP1 is present in pleura and microvessels. AQP1 and AQP4 are expressed in the iris and ciliary epithelium and play important roles in regulating aqueous humor (review in Huber et al. 2012).
Choroid plexus epithelium: AQP1 is highly expressed in the apical side of choroid plexus epithelium, where it facilitates cerebrospinal fluid (CSF) secretion and intracranial pressure regulation (Longatti et al., 2006; review in Huber et al. 2012).
Renal proximal tubule and loop of Henle: mice deficient in AQP1 have a reduced ability to concentrate urine and there is also a moderate defective urinary concentrating ability in AQP1 deficient patients (King et al., 2001).
Erythrocyte: CO2 metabolite enters erythrocytes via diffusion and/or gas channels (e.g. AQP1 and RHAG).
AQP1 is a H2O/CO2 channel in the erythrocyte. There are 160,000-200,000 copies of AQP1 on one erythrocyte membrane (Hsu 2018). AQP1 forms complex with SLC4A1 (band 3) and CA2 (carbonic anhydrase II) for intraerythrocytic CO2/HCO3 conversion in relation to desoxy-hemoglobin (Hsu 2018). 60% of CO2 flux in or out of RBCs is via AQP1 gas channel. The rest of CO2 flux is likely through another gas channel, RHAG, and/or direct diffusion (Hsu 2018).
 
  Figure 3. ModBase predicted comparative 3D structure.
Localisation Localized to the plasma membrane.
Function AQPs main's role is to maintain tissue water balance. AQPs also facilitate cell migration, cell proliferation and cell adhesion. Cell migration: AQPs concentrate at the leading end of migrating cells and facilitate the formation of the lamellipodium (Papadopoulos and Saadoun, 2015). Cell proliferation: AQPs may activates transduction pathways such as the mitogen-activated protein kinase pathways or the Wnt/ β-catenin signaling.
AQP1 may also be involved in down regulation of apoptosis. AQP1 up-regulation induces CTNNB1 (β-catenin) overexpression and serves as co-activator in the nucleus to activate Wnt responsive genes such as MYC, CCND1 (cyclin D1), JUN and FOSL1. AQP1 stabilises the cadherin/ CTNNB1/Lin7/F-actin complex to enhance the migratory and invasive capacity of tumor cells. AQP1 enhances the activity of MMP2 and MMP9 through PTK2 (FAK) and Wnt signalling pathways. Hypoxia induces AQP1 overexpression in tumour cells, in combination with important downstream effectors including CTNNB1, FAK and the Rho family of GTPases known for their role in tumorigenesis. (see review in Tomita et al., 2017).

Mutations

Epigenetics Increased expression of aquaporins 1 and 4 was found in Creutzfeldt-Jakob disease (Rodrèguez et al. 2006).
Germinal Polymorphism: AQP1 is responsible for the Colton blood group system, with high incidence of Co(a) allele/antigen (Ala in aa 45), and low incidence of Co(b) allele/antigen (Val in aa 45). Colton-null phenotype Co(a-b-), is an aquaporin-1 deficiency. The patients, under stress, have a defect in urinary concentration capacity (King et al., 2002). AQP1-null mice have a significant decrease in urine osmolarity, but a normal survival.

Implicated in

Note Aquaporin-1 is a well-established marker of proliferating tumor microvessels (Saadoun et al., 2002).
Aquaporin-1 is present in tumor vascular endothelium. AQP-expressing cancer cells show enhanced migration in vitro and greater local tumor invasion, tumor cell extravasation, and metastases in vivo than aquaporin-1-null transgenic mice. Aquaporin-1 facilitates endothelial cell migration and angiogenesis.
  
Entity Astrocytoma
Note A t(1;7)(p13;p14) AQP1/ CHI3L2 has been found in low grade astrocytoma (Yoshihara et al., 2015).
The fusion gene ADCYAP1R1/AQP1 7p14-7p14 has been found in astrocytoma (Hu et al., 2018).
There was a significant increase in aquaporin-1 expression from low-grade to high-grade astrocytomas. AQP1 up-regulation was predominantly located perivascularly, and associated with angiogenesis, as well as with invasion of grade IV astrocytoma (El Hindy et al., 2013). Aquaporin-1 was expressed in microvessel endothelia and neoplastic astrocytes in metastatic carcinomas. Aquaporin-1 may participate in the formation of brain tumor edema (Saadoun et al., 2002).
  
  
Entity Bladder urothelial carcinoma
Note Marked increase expression levels of aquaporin-1 was noted with bladder urothelial carcinoma histological grade and pathological stage. The expression of aquaporin-1 was markedly higher in cancerous tissues with lymph node metastasis (Liu et al., 2015).
  
  
Entity Breast adenocarcinoma
Note A t(7;19)(p14;p13) AQP1/ TYK2 has been found in breast adenocarcinoma (Hu et al., 2018).
Aquaporin-1 is thought to be involved in estrogen mediated angiogenesis in the mammary gland (Mobasheri and Barrett-Jolley, 2014).
  
  
Entity Cholangiocarcinoma
Note Strong aquaporin-1 expression predicts poor survival, regardless of pathological features in hilar cholangiocarcinoma (Li et al., 2017).
  
  
Entity Choroid plexus carcinoma
Note Aquaporin-1 plays a role in tumor angiogenesis, cell migration, extravasation, and metastasis in choroid plexus carcinoma.
  
  
Entity Colorectal cancer
Note Aquaporin-1 is an independent prognostic factor in advanced colon cancer (Yoshida et al., 2013). Expression of aquaporins 1, 3, and 5 was found in seven colon and colorectal cancer cell lines. The expression of aquaporins 1 and 5 was induced in early-stage disease (early dysplasia) and maintained through the late stages of colon cancer development (Moon et al., 2003).
  
  
Entity Head and neck cancer
Note High expression is correlated with better prognosis in head and neck cancer, according to The Human Protein Atlas. On the other hand, aquaporin-1 was overexpressed in nasopharyngeal cancer tissues; migrated tumor tissue had even higher expression (Li and Zhang 2010).
  
  
Entity Hemangioblastoma
Note Upregulation of aquaporin-1 expression was found in hemangioblastoma (Chen et al. 2006).
  
  
Entity Kidney adenocarcinomay
Note A t(7;20)(p14;q13) AQP1/ ARFGEF2 has been found in adenocarcinoma of the kidney (Hu et al., 2018).
High expression is correlated with better prognosis in renal cell cancer according to The Human Protein Atlas.
  
  
Entity Lung cancer
Note A t(6;7)(p21;p14) AQP1/ CFB has been found in lung adenocarcinoma (Hu et al., 2018).
Aquaporin-1 was overexpressed in adenocarcinoma and bronchoalveolar carcinoma, respectively, whereas all cases of squamous cell carcinoma and normal lung tissue were negative (Hoque et al., 2006).
  
  
Entity Multiple myeloma
Note Patients with active multiple myeloma display significantly higher levels of aquaporin-1 than those with non-active multiple myeloma. Patients with monoclonal gammopathies of undetermined significance (MGUS) had lower levels of aquaporin-1 (Vacca et al. 2001).
  
  
Entity Uterus cervical carcinoma
Note The fusion gene TRA2A/AQP1 (7p15-7p14) has been found in squamous cell carcinoma of the uterus cervix (Hu et al., 2018).
Aquaporins 1 and 3 were upregulated in cervical carcinoma, significantly increased in advanced stage disease, and patients with deeper tumor infiltration, lymph node metastases or larger tumor volume (Chen et al., 2014).
  
  
Entity Uterus endometrial adenocarcinoma
Note A positive correlation between aquaporin-1, microvascular density and vascular endothelial growth factor ( VEGFA) expression in tumor progression of endometrial adenocarcinoma (Pan et al. 2008).
  
  
Entity Pleural malignant mesothelioma
Note Expression of aquaporin-1 in malignant mesothelioma is an independent prognostic factor, irrespective of the type of treatment received. Expression of AQP1 by more than 50% of tumor cells was associated with prolonged survival (Kao et al., 2012).
  
  
Entity Prostate adenocarcinoma
Note Aquaporin-1 overexpression was significantly associated with higher Gleason scores and is associated with prostate adenocarcinoma progression (Park and Yoon 2017).
  

To be noted

Aquaporin-targeted drugs: Heavy metal ions (mercury, silver, gold) are inhibitors of aquaporin-1. The Henle loop diuretic bumetanide and analogues AqB013 and AqF026 also inhibit aquaporin-1. The quaternary ammonium compound tetraethylammonium is an inhibitor of aquaporin-1 water permeability (Verkman et al., 2014; Tomita et al., 2017).

Bibliography

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Increased expression of aquaporin 1 in human hemangioblastomas and its correlation with cyst formation
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Correlation of aquaporin-1 water channel protein expression with tumor angiogenesis in human astrocytoma
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Aquaporin 1 is overexpressed in lung cancer and stimulates NIH-3T3 cell proliferation and anchorage-independent growth
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TumorFusions: an integrative resource for cancer-associated transcript fusions
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Defective urinary concentrating ability due to a complete deficiency of aquaporin-1
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Decreased pulmonary vascular permeability in aquaporin-1-null humans
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Elevated AQP1 Expression Is Associated With Unfavorable Oncologic Outcome in Patients With Hilar Cholangiocarcinoma
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Expression of aquaporin-1 in nasopharyngeal cancer tissues
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Expression of aquaporin 1 in bladder uroepithelial cell carcinoma and its relevance to recurrence
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Involvement of aquaporins in colorectal carcinogenesis
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Overexpression of Aquaporin-1 is a Prognostic Factor for Biochemical Recurrence in Prostate Adenocarcinoma
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Increased expression of water channel aquaporin 1 and aquaporin 4 in Creutzfeldt-Jakob disease and in bovine spongiform encephalopathy-infected bovine-PrP transgenic mice
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Increased aquaporin 1 water channel expression in human brain tumours
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Citation

This paper should be referenced as such :
Huret JL
AQP1 (aquaporin 1 (Colton blood group));
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Genes/AQP1ID46249ch7p14.html


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(1;7)(p13;p14) AQP1/CHI3L2


External links

Nomenclature
HGNC (Hugo)AQP1   633
LRG (Locus Reference Genomic)LRG_808
Cards
AtlasAQP1ID46249ch7p14
Entrez_Gene (NCBI)AQP1  358  aquaporin 1 (Colton blood group)
AliasesAQP-CHIP; CHIP28; CO
GeneCards (Weizmann)AQP1
Ensembl hg19 (Hinxton)ENSG00000240583 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000240583 [Gene_View]  ENSG00000240583 [Sequence]  chr7:30911694-30925517 [Contig_View]  AQP1 [Vega]
ICGC DataPortalENSG00000240583
TCGA cBioPortalAQP1
AceView (NCBI)AQP1
Genatlas (Paris)AQP1
WikiGenes358
SOURCE (Princeton)AQP1
Genetics Home Reference (NIH)AQP1
Genomic and cartography
GoldenPath hg38 (UCSC)AQP1  -     chr7:30911694-30925517 +  7p14.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AQP1  -     7p14.3   [Description]    (hg19-Feb_2009)
GoldenPathAQP1 - 7p14.3 [CytoView hg19]  AQP1 - 7p14.3 [CytoView hg38]
ImmunoBaseENSG00000240583
Mapping of homologs : NCBIAQP1 [Mapview hg19]  AQP1 [Mapview hg38]
OMIM107776   110450   
Gene and transcription
Genbank (Entrez)AB451275 AB451402 AK298091 AK298313 AK300995
RefSeq transcript (Entrez)NM_000385 NM_001185060 NM_001185061 NM_001185062 NM_001329872 NM_198098
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AQP1
Cluster EST : UnigeneHs.76152 [ NCBI ]
CGAP (NCI)Hs.76152
Alternative Splicing GalleryENSG00000240583
Gene ExpressionAQP1 [ NCBI-GEO ]   AQP1 [ EBI - ARRAY_EXPRESS ]   AQP1 [ SEEK ]   AQP1 [ MEM ]
Gene Expression Viewer (FireBrowse)AQP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)358
GTEX Portal (Tissue expression)AQP1
Human Protein AtlasENSG00000240583-AQP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP29972   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP29972  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP29972
Splice isoforms : SwissVarP29972
PhosPhoSitePlusP29972
Domaine pattern : Prosite (Expaxy)MIP (PS00221)   
Domains : Interpro (EBI)Aquaporin-like    Aquaporin_1    Aquaporin_transptr    MIP    MIP_CS   
Domain families : Pfam (Sanger)MIP (PF00230)   
Domain families : Pfam (NCBI)pfam00230   
Conserved Domain (NCBI)AQP1
DMDM Disease mutations358
Blocks (Seattle)AQP1
PDB (RSDB)1FQY    1H6I    1IH5    4CSK   
PDB Europe1FQY    1H6I    1IH5    4CSK   
PDB (PDBSum)1FQY    1H6I    1IH5    4CSK   
PDB (IMB)1FQY    1H6I    1IH5    4CSK   
Structural Biology KnowledgeBase1FQY    1H6I    1IH5    4CSK   
SCOP (Structural Classification of Proteins)1FQY    1H6I    1IH5    4CSK   
CATH (Classification of proteins structures)1FQY    1H6I    1IH5    4CSK   
SuperfamilyP29972
Human Protein Atlas [tissue]ENSG00000240583-AQP1 [tissue]
Peptide AtlasP29972
HPRD00140
IPIIPI00024689   IPI00909619   IPI01018127   IPI01010361   IPI00917259   IPI00909780   IPI00428490   IPI00979161   IPI00915781   IPI00915988   
Protein Interaction databases
DIP (DOE-UCLA)P29972
IntAct (EBI)P29972
FunCoupENSG00000240583
BioGRIDAQP1
STRING (EMBL)AQP1
ZODIACAQP1
Ontologies - Pathways
QuickGOP29972
Ontology : AmiGOrenal water homeostasis  renal water transport  renal water transport  intracellular cGMP-activated cation channel activity  potassium channel activity  water transmembrane transporter activity  protein binding  nucleus  cytoplasm  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  brush border  potassium ion transport  water transport  water transport  water transport  cell volume homeostasis  hyperosmotic response  ammonium transmembrane transporter activity  ammonium transmembrane transporter activity  basal plasma membrane  potassium ion transmembrane transporter activity  glycerol transmembrane transporter activity  glycerol transmembrane transporter activity  water channel activity  water channel activity  water channel activity  water channel activity  carbon dioxide transport  ammonium transport  bicarbonate transport  glycerol transport  integral component of membrane  basolateral plasma membrane  apical plasma membrane  cellular homeostasis  cGMP-mediated signaling  symbiont-containing vacuole  symbiont-containing vacuole membrane  lateral ventricle development  transmembrane transporter activity  pancreatic juice secretion  nitric oxide transmembrane transporter activity  nitric oxide transport  establishment or maintenance of actin cytoskeleton polarity  brush border membrane  nuclear membrane  cerebrospinal fluid secretion  cellular response to UV  transepithelial water transport  carbon dioxide transmembrane transport  carbon dioxide transmembrane transport  carbon dioxide transmembrane transporter activity  carbon dioxide transmembrane transporter activity  sarcolemma  odontogenesis  response to drug  identical protein binding  negative regulation of apoptotic process  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  apical part of cell  positive regulation of angiogenesis  positive regulation of saliva secretion  positive regulation of fibroblast proliferation  multicellular organismal water homeostasis  extracellular exosome  extracellular exosome  cellular response to hydrogen peroxide  cellular response to inorganic substance  cellular response to mechanical stimulus  cellular response to copper ion  cellular response to mercury ion  cellular response to retinoic acid  cellular response to cAMP  cellular response to cAMP  cellular response to hypoxia  cellular response to salt stress  cellular hyperosmotic response  cellular response to dexamethasone stimulus  cellular response to nitric oxide  potassium ion transmembrane transport  ammonium transmembrane transport  maintenance of symbiont-containing vacuole by host  
Ontology : EGO-EBIrenal water homeostasis  renal water transport  renal water transport  intracellular cGMP-activated cation channel activity  potassium channel activity  water transmembrane transporter activity  protein binding  nucleus  cytoplasm  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  brush border  potassium ion transport  water transport  water transport  water transport  cell volume homeostasis  hyperosmotic response  ammonium transmembrane transporter activity  ammonium transmembrane transporter activity  basal plasma membrane  potassium ion transmembrane transporter activity  glycerol transmembrane transporter activity  glycerol transmembrane transporter activity  water channel activity  water channel activity  water channel activity  water channel activity  carbon dioxide transport  ammonium transport  bicarbonate transport  glycerol transport  integral component of membrane  basolateral plasma membrane  apical plasma membrane  cellular homeostasis  cGMP-mediated signaling  symbiont-containing vacuole  symbiont-containing vacuole membrane  lateral ventricle development  transmembrane transporter activity  pancreatic juice secretion  nitric oxide transmembrane transporter activity  nitric oxide transport  establishment or maintenance of actin cytoskeleton polarity  brush border membrane  nuclear membrane  cerebrospinal fluid secretion  cellular response to UV  transepithelial water transport  carbon dioxide transmembrane transport  carbon dioxide transmembrane transport  carbon dioxide transmembrane transporter activity  carbon dioxide transmembrane transporter activity  sarcolemma  odontogenesis  response to drug  identical protein binding  negative regulation of apoptotic process  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  apical part of cell  positive regulation of angiogenesis  positive regulation of saliva secretion  positive regulation of fibroblast proliferation  multicellular organismal water homeostasis  extracellular exosome  extracellular exosome  cellular response to hydrogen peroxide  cellular response to inorganic substance  cellular response to mechanical stimulus  cellular response to copper ion  cellular response to mercury ion  cellular response to retinoic acid  cellular response to cAMP  cellular response to cAMP  cellular response to hypoxia  cellular response to salt stress  cellular hyperosmotic response  cellular response to dexamethasone stimulus  cellular response to nitric oxide  potassium ion transmembrane transport  ammonium transmembrane transport  maintenance of symbiont-containing vacuole by host  
Pathways : KEGGProximal tubule bicarbonate reclamation    Bile secretion   
REACTOMEP29972 [protein]
REACTOME PathwaysR-HSA-432047 [pathway]   
NDEx NetworkAQP1
Atlas of Cancer Signalling NetworkAQP1
Wikipedia pathwaysAQP1
Orthology - Evolution
OrthoDB358
GeneTree (enSembl)ENSG00000240583
Phylogenetic Trees/Animal Genes : TreeFamAQP1
HOGENOMP29972
Homologs : HomoloGeneAQP1
Homology/Alignments : Family Browser (UCSC)AQP1
Gene fusions - Rearrangements
Fusion : MitelmanAQP1/CHI3L2 [7p14.3/1p13.3]  
Fusion PortalAQP1 7p14.3 CHI3L2 1p13.3 LGG
Fusion : FusionGDB2281    2282    2283    2284    2398    39295    857   
Fusion : Fusion_HubADCYAP1R1--AQP1    AQP1--ARFGEF2    AQP1--CFB    AQP1--CHI3L2    AQP1--NPPA-AS1    AQP1--TG    AQP1--TYK2    ARHGAP22--AQP1    CALD1--AQP1    COL1A1--AQP1    HLA-E--AQP1    INMT-FAM188B--AQP1    PAPSS1--AQP1    RTTN--AQP1    TRA2A--AQP1   
Fusion : QuiverAQP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAQP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AQP1
dbVarAQP1
ClinVarAQP1
1000_GenomesAQP1 
Exome Variant ServerAQP1
ExAC (Exome Aggregation Consortium)ENSG00000240583
GNOMAD BrowserENSG00000240583
Varsome BrowserAQP1
Genetic variants : HAPMAP358
Genomic Variants (DGV)AQP1 [DGVbeta]
DECIPHERAQP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAQP1 
Mutations
ICGC Data PortalAQP1 
TCGA Data PortalAQP1 
Broad Tumor PortalAQP1
OASIS PortalAQP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAQP1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DAQP1
Mutations and Diseases : HGMDAQP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch AQP1
DgiDB (Drug Gene Interaction Database)AQP1
DoCM (Curated mutations)AQP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AQP1 (select a term)
intoGenAQP1
NCG5 (London)AQP1
Cancer3DAQP1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM107776    110450   
Orphanet
DisGeNETAQP1
MedgenAQP1
Genetic Testing Registry AQP1
NextProtP29972 [Medical]
TSGene358
GENETestsAQP1
Target ValidationAQP1
Huge Navigator AQP1 [HugePedia]
snp3D : Map Gene to Disease358
BioCentury BCIQAQP1
ClinGenAQP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD358
Chemical/Pharm GKB GenePA24918
Clinical trialAQP1
Miscellaneous
canSAR (ICR)AQP1 (select the gene name)
DataMed IndexAQP1
Probes
Litterature
PubMed307 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAQP1
EVEXAQP1
GoPubMedAQP1
iHOPAQP1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 21:01:21 CET 2019

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