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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AQP1 Gene

protein-coding   GIFtS: 70
GCID: GC07P030894

Aquaporin 1

(Previous names: Colton blood group, aquaporin 1 (channel-forming integral...)
(Previous symbol: CO)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Aquaporin 11 2     Aquaporin 1 (Channel-Forming Integral Protein, 28kDa)1
CO1 2 5     AQP-CHIP2
CHIP282 3 5     aquaporin-12
Aquaporin 1 (Channel-Forming Integral Protein, 28kDa, CO Blood Group)1 2     aquaporin-CHIP2
Colton Blood Group1 2     Channel-Like Integral Membrane Protein, 28-KDa2
Urine Water Channel2 3     AQP-13
Water Channel Protein For Red Blood Cells And Kidney Proximal Tubule2 3     Aquaporin-CHIP3

External Ids:    HGNC: 6331   Entrez Gene: 3582   Ensembl: ENSG000002405837   OMIM: 1077765   UniProtKB: P299723   

Export aliases for AQP1 gene to outside databases

Previous GC identifers: GC07P030593 GC07P030693 GC07P030724 GC07P030917 GC07P030811


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AQP1 Gene:
Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0).
This gene encodes an aquaporin which functions as a molecular water channel protein. It is a homotetramer with 6
bilayer spanning domains and N-glycosylation sites. The protein physically resembles channel proteins and is
abundant in erythrocytes and renal tubes. The gene encoding this aquaporin is a possible candidate for disorders
involving imbalance in ocular fluid movement. Several transcript variants encoding different isoforms have been
found for this gene. (provided by RefSeq, Jun 2010)

GeneCards Summary for AQP1 Gene: 
AQP1 (aquaporin 1) is a protein-coding gene. Diseases associated with AQP1 include hydrarthrosis, and polyhydramnios, and among its related super-pathways are Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes and Aquaporin-mediated transport. GO annotations related to this gene include water channel activity and potassium channel activity. An important paralog of this gene is ENSG00000250424.

UniProtKB/Swiss-Prot: AQP1_HUMAN, P29972
Function: Forms a water-specific channel that provides the plasma membranes of red cells and kidney proximal
tubules with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient

Gene Wiki entry for AQP1 (Aquaporin 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007819.17  NC_018918.2  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AQP1 gene promoter:
         AhR   Max1   Sp1   STAT3   NF-kappaB1   NF-kappaB   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): AQP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for AQP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AQP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p14   Ensembl cytogenetic band:  7p14.3   HGNC cytogenetic band: 7p14

AQP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AQP1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P030894:  view genomic region     (about GC identifiers)

Start:
30,893,010 bp from pter      End:
30,965,131 bp from pter
Size:
72,122 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 31,000,921-31,014,637     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AQP1_HUMAN, P29972 (See protein sequence)
Recommended Name: Aquaporin-1  
Size: 269 amino acids; 28526 Da
Subunit: Homotetramer. Interacts with EPHB2; involved in endolymph production in the inner ear (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein
Miscellaneous: Pharmacologically inhibited by submillimolar concentrations of mercury
3 PDB 3D structures from and Proteopedia for AQP1:
1FQY (3D)        1H6I (3D)        1IH5 (3D)    
Secondary accessions: B5BU39 E7EM69 E9PC21 F5GY19 Q8TBI5 Q8TDC1
Alternative splicing: 4 isoforms:  P29972-1   P29972-2   P29972-3   P29972-4   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for AQP1: NX_P29972

Explore proteomics data for AQP1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P29972

  • AQP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AQP1 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001171989.1  NP_001171990.1  NP_001171991.1  NP_932766.1  

    ENSEMBL proteins: 
     ENSP00000311165   ENSP00000386712   ENSP00000387178   ENSP00000395059   ENSP00000405698  
    Reactome Protein details: P29972
    Human Recombinant Protein Products for AQP1: 
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    Cloud-Clone Corp. Proteins for AQP1 

    Gene Ontology (GO): 5/16 cellular component terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA17645239
    GO:0005737cytoplasm IDA16814974
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS1722319
    GO:0005903brush border IDA16133142

    AQP1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    AQP: Ion channels / Aquaporins
    bloodgroup: Blood group antigens

    IUPHAR Guide to PHARMACOLOGY protein family classification: AQP1 
    Aquaporins

    4 InterPro protein domains:
     IPR022357 MIP_CS
     IPR023271 Aquaporin-like
     IPR023274 Aquaporin_1
     IPR000425 MIP

    Graphical View of Domain Structure for InterPro Entry P29972

    ProtoNet protein and cluster: P29972

    1 Blocks protein domain: IPB000425 MIP family

    UniProtKB/Swiss-Prot: AQP1_HUMAN, P29972
    Domain: Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming
    loop with the signature motif Asn-Pro-Ala (NPA)
    Similarity: Belongs to the MIP/aquaporin (TC 1.A.8) family


    AQP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AQP1_HUMAN, P29972
    Function: Forms a water-specific channel that provides the plasma membranes of red cells and kidney proximal
    tubules with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient

         Genatlas biochemistry entry for AQP1:
    aquaporin 1 (28kDa),water channel forming integral protein in red cells in the apical basolateral membranes of
    renal proximal tubule and descending limbs of Henle's loop,also expressed in ciliary body,lens,corneal
    epithelium,retinal pigment epithelium (CHIP28),involved in transcellular endothelial fluid transport

         Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity ----
    GO:0005223intracellular cGMP activated cation channel activity IDA14561230
    GO:0005267potassium channel activity IMP11914159
    GO:0005372water transmembrane transporter activity IDA11914159
    GO:0005515protein binding IPI16189514
         
    AQP1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for AQP1:
     Decreased viability with carbo 

         13 MGI mutant phenotypes (inferred from 1 allele(MGI details for Aqp1):
     behavior/neurological  cardiovascular system  endocrine/exocrine gland  growth/size  hearing/vestibular/ear 
     hematopoietic system  homeostasis/metabolism  mortality/aging  nervous system  renal/urinary system 
     reproductive system  respiratory system  vision/eye 

    AQP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Aqp1tm1Ask for AQP1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for AQP1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AQP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AQP1 
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    SwitchGear 3'UTR luciferase reporter plasmidAQP1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AQP1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AQP1 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1O2/CO2 exchange in erythrocytes
    Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes1.00
    O2/CO2 exchange in erythrocytes1.00
    Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes1.00
    2Regulation of Water Balance by Renal Aquaporins
    Regulation of Water Balance by Renal Aquaporins0.84
    Aquaporin-mediated transport0.84
    3SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50
    4Nanog in Mammalian ESC Pluripotency
    eNOS Signaling0.48
    5Metabolism
    Metabolism0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for AQP1
        eNOS Signaling

    1 BioSystems Pathway for AQP1
        Spinal Cord Injury


    5/8        Reactome Pathways for AQP1 (see all 8)
        Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes
    Transmembrane transport of small molecules
    Aquaporin-mediated transport
    Metabolism
    Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes


    2         Kegg Pathways  (Kegg details for AQP1):
        Proximal tubule bicarbonate reclamation
    Bile secretion


    AQP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AQP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/11 Interacting proteins for AQP1 (P299721, 2, 3 ENSP000003111654) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC85BQ158342, 3, ENSP000003116954MINT-68336 I2D: score=4 STRING: ENSP00000311695
    EFEMP2O959672, 3, ENSP000003099534MINT-67045 I2D: score=4 STRING: ENSP00000309953
    KCTD17Q8N5Z52, 3, ENSP000003843914MINT-67673 I2D: score=4 STRING: ENSP00000384391
    MDFIQ997501, 2, 3, ENSP000002303214EBI-745213,EBI-724076 MINT-66628 I2D: score=4 STRING: ENSP00000230321
    TRIP6Q156542, 3, ENSP000002004574MINT-68111 I2D: score=4 STRING: ENSP00000200457
    About this table

    Gene Ontology (GO): 5/44 biological process terms (GO ID links to tree view) (see all 44):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003097renal water transport IDA9096382
    GO:0006182cGMP biosynthetic process IDA14561230
    GO:0006810transport ----
    GO:0006813potassium ion transport ISS--
    GO:0006833water transport TAS--

    AQP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AQP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AQP1

    1 HMDB Compound for AQP1    About this table
    CompoundSynonyms CAS #PubMed Ids
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 DrugBank Compound for AQP1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    AcetazolamideAcetamidothiadiazolesulfonamide (see all 7)59-66-5targetinhibitor12147198 15169637 12830709 14753499 14704128

    4 IUPHAR Ligands for AQP1 (AQP1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    Hg2+
    InhibitorNone--
    cGMP
    ActivatorNone--
    tetraethylammonium
    InhibitorNone--
    Ag+
    InhibitorNone--

    10/48 Novoseek inferred chemical compound relationships for AQP1 gene (see all 48)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hgcl2 72.4 5 8703053 (1), 10559675 (1), 15958180 (1), 12754312 (1) (see all 5)
    pcmbs 65.6 4 9843709 (2), 8584435 (1)
    glycerol 52.7 26 7491270 (5), 19883616 (2), 8584435 (2), 18202181 (1) (see all 9)
    vas-a 51.9 4 9468475 (1), 12162729 (1), 9176368 (1), 17942963 (1)
    urea 43.7 11 1510932 (1), 18202181 (1), 8542029 (1), 12824077 (1) (see all 8)
    dids 36.4 2 12754312 (1), 17012249 (1)
    acetazolamide 36 25 16480680 (6), 17219999 (4), 14704128 (3), 17126329 (2) (see all 5)
    octyl glucoside 33.3 11 9417990 (5)
    sodium 30.7 11 10023655 (1), 12824077 (1), 12595490 (1), 17051265 (1) (see all 9)
    mercury 29.1 13 9843709 (2), 9321919 (2), 10779387 (2), 9369468 (1) (see all 7)

    Search CenterWatch for drugs/clinical trials and news about AQP1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AQP1 gene (5 alternative transcripts): 
    NM_001185060.1  NM_001185061.1  NM_001185062.1  NM_198098.2  NM_000385.3  

    Unigene Cluster for AQP1:

    Aquaporin 1 (Colton blood group)
    Hs.76152  [show with all ESTs]
    Unigene Representative Sequence: NM_198098
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000311813(uc011kac.1 uc003tbv.2) ENST00000482461 ENST00000409899
    ENST00000409611 ENST00000434909 ENST00000441328(uc010kwf.1 uc010kwh.1 uc022abh.1)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB451275.1 AB451402.1 AK298091.1 AK298313.1 AK300995.1 AK301351.1 AK304684.1 AK309608.1 
    AK309688.1 AK309691.1 AK312656.1 AY312580.1 AY312581.1 BC022486.1 BC141905.1 M77829.1 
    S73482.1 U41517.1 U41518.1 

    15 DOTS entries:

    DT.451970  DT.121078321  DT.121078344  DT.40190504  DT.95290625  DT.100660771  DT.95290631  DT.91969493 
    DT.100857646  DT.75133007  DT.95289678  DT.121078301  DT.121078349  DT.92438781  DT.121078330 

    24/364 AceView cDNA sequences (see all 364):

    BX457138 BQ717357 T34883 AJ707627 CA434639 BF338385 BM664279 BQ716907 
    BU149604 BF337223 CA393319 BQ003063 BQ878791 BQ897686 BI837828 BU838557 
    AY312580 BX487324 CR617260 T30572 F36214 BU678243 BM710077 T35168 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AQP1 expression in normal human tissues (normalized intensities)      AQP1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    AQP1 Expression
    About this image


    AQP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/17 selected tissues (see all 17) fully expand
     
     Kidney (Urinary System)    fully expand to see all 6 entries
             Proximal Tubule Cells Proximal Tubule
             mK3
     
     Endothelium (Cardiovascular System)    fully expand to see all 4 entries
             PureStem ES-335, Meso-latp Progenitor
             Embryoid bodies ( Two-step protocol for endothelial differentiation by embryoid...
             Human Umbilical Vein Endothelial Cells (HUVEC) (ScienceCell)   
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Endochondral Facial Bones
             skeleton/cranium/vault of skull   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             Outflow Tract
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Choroid Plexus

    See AQP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AQP1

    SOURCE GeneReport for Unigene cluster: Hs.76152

    UniProtKB/Swiss-Prot: AQP1_HUMAN, P29972
    Tissue specificity: Expressed in a number of tissues including erythrocytes, renal tubules, retinal pigment
    epithelium, heart, lung, skeletal muscle, kidney and pancreas. Weakly expressed in brain, placenta and liver

        SABiosciences Expression via Pathway-Focused PCR Arrays including AQP1 (see all 6): 
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              Drug Transporters in human mouse rat
              Huntington's Disease in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AQP1 gene from 9/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aqp11 , 5 aquaporin 11, 5 88.1(n)1
    94.05(a)1
      6 (27.38 cM)5
    118261  NM_007472.21  NP_031498.11 
     553364325 
    chicken
    (Gallus gallus)
    Aves AQP11 aquaporin 1 (Colton blood group) 76.7(n)
    86.25(a)
      420384  NM_001039453.1  NP_001034542.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    --
    83(a)
    79(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    AAWZ02041940(453-2586)
    6(1886100-1920548)
    African clawed frog
    (Xenopus laevis)
    Amphibia CD362639.12   -- 78.36(n)    CD362639.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj33g042 Transcribed sequence with weak similarity to protein more 72.97(n)    CK026085.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG77771 , 3 water transporter3
    CG77771
    37(a)3
    50.48(n)1
    40.74(a)1
      47F133
    362371  NM_136842.31  NP_610686.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AQY1(YPR192W)4 Spore-specific water channel that mediates the transport more   --   16(921860-922777) 856322  NP_015518.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PIP2E1 putative aquaporin PIP2-6 51.02(n)
    46.93(a)
      818487  NM_129458.2  NP_181434.1 
    barley
    (Hordeum vulgare)
    Liliopsida AL450814.12   -- 77.55(n)    AL450814.1 


    ENSEMBL Gene Tree for AQP1 (if available)
    TreeFam Gene Tree for AQP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AQP1 gene
    ENSG000002504242  AQP82  AQP22  MIP2  AQP52  AQP42  AQP62  
    7 SIMAP similar genes for AQP1 using alignment to 6 protein entries:     AQP1_HUMAN (see all proteins):
    MIP    AQP6    AQP5    AQP2    AQP4    AQP8
    DKFZp434D2030

    AQP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: AQP1_HUMAN, P29972
    Polymorphism: AQP1 is responsible for the Colton blood group system. Approximately 92% of Caucasians are Co(A+B-)
    (Ala-46), approximately 8% are Co(A+B+), and only 0.2% are Co(A-B+) (Val-46). Co(A-B-) which is very rare, is due
    to a complete absence of AQP1


    10/362 SNPs in AQP1 are shown (see all 362)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs283626921,2,4
    C,Fnon-pathogenic130929736(+) GACGGC/TGGTCC 2 A V mis111Minor allele frequency- T:0.03NS NA EA EU 6482
    rs1048940041,2
    Cpathogenic130929715(+) ATACCC/TGGTGG 2 P L mis10--------
    VAR_0132794
    ----see VAR_0132792 P L mis40--------
    rs283626861,2
    C,F--30927701(+) AGGATG/ATAGAG 1 -- us2k13Minor allele frequency- A:0.05NS WA 192
    rs125334931,2
    C,H--30927942(+) GGTGGC/TCAGTA 1 -- us2k16Minor allele frequency- T:0.01NS EA NA 530
    rs283626871,2
    C,F--30928027(+) GGCACA/TCTTAG 1 -- us2k19Minor allele frequency- T:0.12NS NA WA EA 448
    rs283626881,2
    C,F--30928278(+) TTCTTG/TTTTGT 1 -- us2k14Minor allele frequency- T:0.01NS NA 94
    rs1915556411,2
    --30928299(+) TAGGCC/TTCTGG 1 -- us2k10--------
    rs1826418101,2
    --30928380(+) GGCTCC/GTCTGG 1 -- us2k10--------
    rs1854162311,2
    --30928508(+) TCTCTC/GTCAGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for AQP1 (30893010 - 30965131 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for AQP1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv436557CNV Deletion17901297
    nsv887908CNV Loss21882294
    nsv887911CNV Loss21882294
    nsv887901CNV Loss21882294
    dgv7242n71CNV Gain21882294
    dgv7241n71CNV Gain21882294
    dgv7243n71CNV Gain21882294
    nsv527038CNV Gain19592680
    nsv887906CNV Gain+Loss21882294


    Human Gene Mutation Database (HGMD): AQP1

    Locus Specific Mutation Databases (LSDB): AQP1
    Blood Group Antigen Gene Mutation Database (BGMUT) blood group system
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing AQP1
    DNA2.0 Custom Variant and Variant Library Synthesis for AQP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 107776   
    OMIM disorders: 110450  
    20/78 diseases for AQP1 (see all 78):    About MalaCards
    hydrarthrosis    polyhydramnios    bovine spongiform encephalopathy    skeletal muscle regeneration
    dysferlinopathy    priapism    hemangioblastoma    motion sickness
    dystrophinopathies    oligohydramnios    hepatorenal syndrome    diabetes insipidus
    peritonitis    autoimmune pancreatitis    brain edema    bullous keratopathy
    keratopathy    bacterial meningitis    varicocele    nephrogenic diabetes insipidus

    3 diseases from the University of Copenhagen DISEASES database for AQP1:
    Brain edema     Kidney disease     Hydrocephalus

    AQP1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/45 Novoseek inferred disease relationships for AQP1 gene (see all 45)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    diabetes insipidus nephrogenic 72.9 1 8793791 (1)
    aqueous humor 51.7 5 8815812 (1), 9497312 (1), 10694901 (1), 10873606 (1) (see all 5)
    antidiuresis 50.1 1 1280133 (1)
    fuchs dystrophy 45.5 2 15385580 (1)
    pancreas exocrine 42.6 3 11917120 (1), 14759764 (1), 16179736 (1)
    edema 36.7 15 15809704 (2), 15670385 (2), 12761937 (2), 16539309 (2) (see all 8)
    oncocytoma 35.2 4 15502805 (2), 18930582 (1), 18036175 (1)
    fluid retention 34.2 1 15667881 (1)
    hypofunction 31.4 2 10766354 (1), 16368071 (1)
    hemangioblastoma 31.1 9 17077939 (6), 16300893 (2), 20179436 (1)

    Genetic Association Database (GAD): AQP1
    Human Genome Epidemiology (HuGE) Navigator: AQP1 (15 documents)

    Export disorders for AQP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AQP1 gene, integrated from 9 sources (see all 452):
    (articles sorted by number of sources associating them with AQP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of the cDNA for erythrocyte integral membrane protein of 28 kilodaltons: member of an ancient channel family. (PubMed id 1722319)1, 2, 3, 9 Preston G.M. and Agre P. (1991)
    2. The three-dimensional structure of aquaporin-1. (PubMed id 9177353)1, 2, 9 Walz T.... Engel A. (1997)
    3. The mercury-sensitive residue at cysteine 189 in the CHIP28 water channel. (PubMed id 7677994)1, 2, 9 Preston G.M.... Agre P. (1993)
    4. Genetic polymorphisms associated with priapism in sickle cell disease. (PubMed id 17408468)1, 4, 9 Elliott L....Telen M.J. (2007)
    5. The water channel gene in human uterus. (PubMed id 7517253)1, 2, 9 Li X.... Koide S.S. (1994)
    6. The human aquaporin-CHIP gene. Structure, organization, and chromosomal localization. (PubMed id 8340403)1, 2, 9 Moon C.... Agre P. (1993)
    7. Molecular analysis of aquaporin genes 1 to 4 in patie nts with MeniA"re's disease. (PubMed id 21063116)1, 4 Candreia C....GA1rtler N. (2010)
    8. L-type voltage-dependent calcium channel alpha subuni t 1C is a novel candidate gene associated with secondary hyperparathyroidism: a n application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (2010)
    9. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    10. AQP1 and SLC4A10 as candidate genes for primary open- angle glaucoma. (PubMed id 20101282)1, 4 Liu W....Allingham R.R. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 358 HGNC: 633 AceView: AQP1 Ensembl:ENSG00000240583 euGenes: HUgn358
    ECgene: AQP1 Kegg: 358 H-InvDB: AQP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AQP1 Pharmacogenomics, SNPs, Pathways
    dbRBC/BGMUThttp://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=colton
    SeattleSNPshttp://pga.gs.washington.edu/data/aqp1/
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/sptlt036.shtml

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AQP1 gene:
    Search GeneIP for patents involving AQP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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