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AQP1 Gene

protein-coding   GIFtS: 71
GCID: GC07P030894

Aquaporin 1 (Colton Blood Group)

(Previous names: Colton blood group, aquaporin 1 (channel-forming integral...)
(Previous symbol: CO)
  See AQP1-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)
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Aliases
Aquaporin 1 (Colton Blood Group)1 2     Colton Blood Group1
CO1 2 5     AQP-CHIP2
CHIP282 3 5     aquaporin-12
Aquaporin 1 (Channel-Forming Integral Protein, 28kDa, CO Blood Group)1 2     aquaporin-CHIP2
Urine Water Channel2 3     Channel-Like Integral Membrane Protein, 28-KDa2
Water Channel Protein For Red Blood Cells And Kidney Proximal Tubule2 3     AQP-13
Aquaporin 11     Aquaporin-CHIP3
Aquaporin 1 (Channel-Forming Integral Protein, 28kDa)1     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (Colton blood group)) is a protein-coding gene. Diseases associated with AQP1 include dysferlinopathy, and polyhydramnios. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NC_018918.2  NT_007819.18  
Regulatory elements:
   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 Chromatin IP Primers for AQP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
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: 

  • Glycosylation2 at Asn42, Asn205
  • Modification sites at PhosphoSitePlus

  • See AQP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    AQP1 Human Recombinant Protein Products:

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    AQP1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of AQP1
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    Search eBioscience for ELISAs for AQP1 


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

    IUPHAR Guide to PHARMACOLOGY protein family classification: AQP1
    Aquaporins

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

    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


    Find genes that share domains with AQP1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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
         
    Find genes that share ontologies with AQP1           About GenesLikeMe


    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/body  hearing/vestibular/ear 
     hematopoietic system  homeostasis/metabolism  mortality/aging  nervous system  renal/urinary system 
     reproductive system  respiratory system  vision/eye 

    Find genes that share phenotypes with AQP1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Aqp1tm1Ask for AQP1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AQP1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AQP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AQP1

    miRNA
    Products:
        
    miRTarBase miRNAs that target AQP1:
    hsa-mir-320a (MIRT006497)

    Block miRNA regulation of human, mouse, rat AQP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AQP1 (see all 23):
    hsa-miR-3678-3p hsa-miR-3164 hsa-miR-4311 hsa-miR-4328 hsa-miR-125a-3p hsa-miR-548s hsa-miR-3921 hsa-miR-759
    SwitchGear 3'UTR luciferase reporter plasmidAQP1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for AQP1
    Predesigned siRNA for gene silencing in human, mouse, rat AQP1

    Gene Editing
    Products:
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): AQP1 (NM_198098)
    Sino Biological Human cDNA Clone for AQP1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AQP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AQP1

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AQP1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AQP1_HUMAN, P29972: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane5
    extracellular4
    cytoskeleton2

    Gene Ontology (GO): Selected cellular component terms (see all 17):    About this table

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

    Find genes that share ontologies with AQP1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for AQP1 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Regulation of Water Balance by Renal Aquaporins
    Regulation of Water Balance by Renal Aquaporins0.85
    Passive Transport by Aquaporins0.00
    Aquaporin-mediated transport0.85
    2O2/CO2 exchange in erythrocytes
    O2/CO2 exchange in erythrocytes
    Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes0.00
    Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes0.00
    3Nanog in Mammalian ESC Pluripotency
    eNOS Signaling0.48
    4Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    5Metabolism
    Metabolism0.38


    Find genes that share SuperPaths with AQP1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    1 BioSystems Pathway for AQP1
        Spinal Cord Injury


    4 Reactome Pathways for AQP1
        Erythrocytes take up carbon dioxide and release oxygen
    Erythrocytes take up oxygen and release carbon dioxide
    Regulation of water balance by renal Aquaporins
    Passive transport by Aquaporins


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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including AQP1 (see all 6): 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              Drug Transporters in human mouse rat
              Huntington's Disease in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for AQP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for AQP1 (P299721, 2, 3 ENSP000003111654) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    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): Selected biological process terms (see all 45):    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--

    Find genes that share ontologies with AQP1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--

    Selected 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)



    Find genes that share compounds with AQP1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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)

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    Selected qRT-PCR Assays for microRNAs that regulate AQP1 (see all 23):
    hsa-miR-3678-3p hsa-miR-3164 hsa-miR-4311 hsa-miR-4328 hsa-miR-125a-3p hsa-miR-548s hsa-miR-3921 hsa-miR-759
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    GenScript: all cDNA clones in your preferred vector (see all 4): AQP1 (NM_198098)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AQP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AQP1
    Primer
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    OriGene qPCR primer pairs and template standards for AQP1
    OriGene qSTAR qPCR primer pairs in human, mouse for AQP1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AQP1
      QuantiTect SYBR Green Assays in human, mouse, rat AQP1
      QuantiFast Probe-based Assays in human, mouse, rat AQP1

    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 

    Selected AceView cDNA sequences (see all 364):

    BM710077 BQ017042 BF341114 AA077127 F29458 T35168 AJ707627 CK430001 
    CR617260 BM664279 AU122128 AL548920 BE857314 BU149604 BX457138 BU678243 
    CF453864 NM_000385 BQ880006 NM_198098 BP343819 BF725457 BM505461 BQ719069 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AQP1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 13) fully expand
     
     Kidney (Urinary System)    fully expand to see all 9 entries
             Proximal Tubule Cells Proximal Tubule
             Adult human kidney epithelial cells
             Proximal tubule-like cells
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
             CPEC
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Choroid Plexus
             CPEC
     
     NULL (Uncategorized)    fully expand to see all 4 entries
             CPEC
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
    AQP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AQP1 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including AQP1 (see all 6): 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              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

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AQP1 gene from Selected species (see all 18)    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) 76.33(n)
    85.87(a)
      420384  NM_001039453.1  NP_001034542.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    83(a)
    79(a)
    many ↔ many
    many ↔ many
    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 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PIP2E1 PIP2E 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)
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    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

    Find genes that share paralogs with AQP1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    AQP1_HUMAN, P29972: 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


    Selected SNPs for AQP1 (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--------
    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--------
    rs283626901,2
    C,F,H--30928642(+) TGTCTG/ATCTCT 1 -- us2k19Minor allele frequency- A:0.04NS NA WA 994

    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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 107776   
    OMIM disorders: 110450  
    10 diseases for AQP1:    
    About MalaCards
    dysferlinopathy    polyhydramnios    priapism    motion sickness
    skeletal muscle regeneration    oligohydramnios    hepatorenal syndrome    dystrophinopathies
    meniere's disease    diabetes insipidus

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

    Find genes that share disorders with AQP1           About GenesLikeMe

    Selected 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)
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    PubMed articles for AQP1 gene, integrated from 10 sources (see all 455):
    (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. (Proc. Natl. Acad. Sci. U.S.A. 1991)
    2. The three-dimensional structure of aquaporin-1. (PubMed id 9177353)1, 2, 9 Walz T.... Engel A. (Nature 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. (J. Biol. Chem. 1993)
    4. Genetic polymorphisms associated with priapism in sickle cell disease. (PubMed id 17408468)1, 4, 9 Elliott L....Telen M.J. (Br. J. Haematol. 2007)
    5. The water channel gene in human uterus. (PubMed id 7517253)1, 2, 9 Li X.... Koide S.S. (Biochem. Mol. Biol. Int. 1994)
    6. The human aquaporin-CHIP gene. Structure, organization, and chromosomal localization. (PubMed id 8340403)1, 2, 9 Moon C.... Agre P. (J. Biol. Chem. 1993)
    7. Molecular analysis of aquaporin genes 1 to 4 in patients with MeniA"re's disease. (PubMed id 21063116)1, 4 Candreia C....GA1rtler N. (Cell. Physiol. Biochem. 2010)
    8. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (Nephron Clin Pract 2010)
    9. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    10. AQP1 and SLC4A10 as candidate genes for primary open-angle glaucoma. (PubMed id 20101282)1, 4 Liu W....Allingham R.R. (Mol. Vis. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 358 HGNC: 633 AceView: AQP1 Ensembl:ENSG00000240583 euGenes: HUgn358
    ECgene: AQP1 Kegg: 358 H-InvDB: AQP1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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/036

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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