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

AQP1 Gene

protein-coding   GIFtS: 67
GCID: GC07P030894

aquaporin 1 (Colton blood group)

(Previous names: Colton blood group, aquaporin 1 (channel-forming integral...)
(Previous symbol: CO)
 Explore 84 diseases affiliated with
AQP1 via
MalaCards
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 Human Malady Compendium 
Biological research products
for AQP1    

Aliases
for AQP1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Aquaporin 1 (Colton Blood Group)1 2     Aquaporin 1 (Channel-Forming Integral Protein, 28kDa)1
CHIP281 2 3 5     AQP-CHIP2
CO1 2 5     Aquaporin-11
Aquaporin 1 (Channel-Forming Integral Protein, 28kDa, CO Blood Group)1 2     Aquaporin-CHIP3
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


Summaries
for AQP1 gene

(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:
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)

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)


Genomic Views
for AQP1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007819.17  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     

Proteins
for AQP1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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 F5GY19 Q8TBI5 Q8TDC1
Alternative splicing: 2 isoforms:  P29972-1   P29972-2   (No experimental confirmation available)

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P29972

    • AQP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Novus Biologicals AQP1 Protein
    Novus Biologicals AQP1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for AQP1

    Gene Ontology (GO): 5/15 cellular component terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA17645239
    GO:0005737cytoplasm IDA19545896
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS1722319
    GO:0005903brush border IDA16814974


    AQP1 for ontologies           About GeneDecksing



    AQP1 Antibody Products: 
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    Novus Biologicals AQP1 Antibodies
    Search for Antibodies for AQP1 at Abcam  
    Uscn Antibodies for AQP1
    ThermoFisher Antibodies for AQP1

    Assay Products for AQP1: 
    Browse Kits and Assays available from EMD Millipore
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    Uscn ELISAs and CLIAs for AQP1

    Protein Domains /
    Families
    for AQP1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    AQP1 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: 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


    Function
    for AQP1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: AQP1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AQP1
    8/23 QIAGEN miScript miRNA 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 plasmid: AQP1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AQP1 (see all 7)
    OriGene shRNA RFP: AQP1
    OriGene siRNA: AQP1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AQP1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for AQP1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AQP1 (see all 6)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 4): AQP1 (NM_198098)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AQP1 

    Cell Line
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    Search LifeMap BioReagents cell lines for AQP1

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

    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 IDA14561230
    GO:0005515protein binding IPI19447967


    AQP1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for AQP1:
     Decreased viability with carbo 

    Animal Models:
         Mouse knock-out Aqp1tm1Ask for AQP1
         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


    Pathways & Interactions
    for AQP1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1O2/CO2 exchange in erythrocytes
    		O2/CO2 exchange in erythrocytes1.00
    		Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes1.00
    		Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes1.00
    2Regulation of Water Balance by Renal Aquaporins
    		Regulation of Water Balance by Renal Aquaporins1.00
    		Aquaporin-mediated transport0.84
    3Passive Transport by Aquaporins
    		Passive Transport by Aquaporins1.00
    4Metabolism
    		Metabolism1.00
    5Proximal tubule bicarbonate reclamation
    		Proximal tubule bicarbonate reclamation1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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

    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): 5/43 biological process terms (GO ID links to tree view) (see all 43):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003097renal water transport IDA9096382
    GO:0006182cGMP biosynthetic process IDA14561230
    GO:0006813potassium ion transport ISS--
    GO:0006833water transport TAS--
    GO:0006884cell volume homeostasis IMP11922632


    AQP1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for AQP1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    10/48 Novoseek 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 

    Transcripts
    for AQP1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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)


    miRNA
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    8/23 QIAGEN miScript miRNA 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 plasmid: AQP1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AQP1 (see all 7)
    OriGene shRNA RFP: AQP1
    OriGene siRNA: AQP1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AQP1
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AQP1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AQP1

    Additional cDNA 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.121078330  DT.121078349  DT.92438781 

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

    BM993173 C03473 AJ707627 BI837828 BM710077 T35168 AL548920 CA434639 
    NM_198098 CA393319 BQ014379 CR617260 BF338385 BF337223 F29458 CD519024 
    BQ881586 BF725457 BX329063 CD516308 CF453864 CD608311 BQ718433 BQ717357 

    GeneLoc Exon Structure


    Expression
    for AQP1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    AQP1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/13 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 13) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainChoroid PlexusMature Choroid Plexus CellsChoroid Plexus
    KidneyProximal TubuleProximal Tubule CellsKidney
    BrainChoroid PlexusChoroid Plexus Progenitor CellsChoroid Plexus
    EyeRetinal Pigmented EpitheliumMature Retinal Pigmented Epithelium CellsRetinal Pigmented Epithelium
    KidneyLoop of HenleLoop of Henle CellsKidney
    LiverIntrahepatic Biliary TreeBiliary Epithelial CellsLiver
    HeartAtrioventricular CanalAtrioventricular Canal CellsMyocardium
    AdiposeBody Subcutaneous White AdiposeAdipose
    AdiposeVisceral White AdiposeAdipose
    BoneEndochondral Facial BonesBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/19 LifeMap Cells (see all 19) 
    NameCategory
    Adult human kidney epithelial cells (Primary Cell)Kidney
    mK4 (Cell line)Kidney
    Parietal epithelial cells (PEC) (Adult Stem / Progenitor Cell)Epithelium, Kidney
    mK3 (Cell line)Kidney
    PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle
    PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)Endothelium
    PureStem™ progenitor EN2 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN7 (Embryonic Progenitor Cell)
    CPEC (Generation of choroi...)

    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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              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

    Primer
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    Orthologs
    for AQP1 gene

    (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 7/26 species (see all 26)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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 --
    		 --
    		 81(a)
    		 1 → many
    		 6(1886212-1916846)
    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 putative aquaporin PIP2-6 51.02(n)
    46.93(a)    		   818487  NM_129458.2  NP_181434.1 
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 13)    		 aquaporin protein, putative, expressed
    (see all 13)    		 37(a)
    36(a)
    (see all 13)    		 many ↔ many
    many ↔ many
    (see all 13)    		 7(15368142-15369174)
    7(15357967-15359502)


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

    Paralogs
    for AQP1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AQP1 gene
    ENSG000002504242  AQP22  AQP82  MIP2  AQP52  AQP42  AQP62  
    8 SIMAP similar genes for AQP1 using alignment to 8 protein entries:     AQP1_HUMAN (see all proteins):
    AQP 1    MIP    AQP2    AQP6    AQP5    AQP4
    AQP8    DKFZp434D2030

    AQP1 for paralogs           About GeneDecksing



    Genomic Variants
    for AQP1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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


    10/292 NCBI SNPs in AQP1 are shown (see all 292)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs283626921,2
    		C,F,non-pathogenic31001164(+) GACGGC/TGGTCC 2 A V mis111Minor allele frequency- T:0.03NS NA EA EU 6482
    rs1915556411,2
    		--30950221(+) TAGGCC/TTCTGG 1 -- us2k10--------
    rs1826418101,2
    		--30950302(+) GGCTCC/GTCTGG 1 -- us2k10--------
    rs1854162311,2
    		--30950430(+) TCTCTC/GTCAGC 1 -- us2k10--------
    rs283626891,2
    		C,F,--30950543(+) CTCCTC/-CCCTC 1 -- us2k12Minor allele frequency- -:0.03NS 88
    rs1441520211,2
    		--30950711(+) CACCAC/GCCTGC 1 -- us2k10--------
    rs14765971,2
    		C,F,A,H,--30950742(+) TCGCTC/GTCGAG 1 -- us2k118Minor allele frequency- G:0.37EA NA NS WA CSA 1001
    rs20755741,2
    		C,F,A,--30950744(+) GCTGTC/TGAGAA 1 -- us2k17Minor allele frequency- T:0.37NS NA WA EA 456
    rs1897837681,2
    		--30950771(+) GGCGGA/GGGCTT 1 -- us2k10--------
    rs1510155611,2
    		--30950936(+) GTGGC-/GGGTGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for AQP1 (30893010 - 30965131 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for AQP1: --
    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
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    Disorders / Diseases
    for AQP1 gene

    (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.)
    About This Section
    AQP1 for disorders           About GeneDecksing

    OMIM gene information: 107776   
    OMIM disorders: 110450  
    20/84 diseases for AQP1 (see all 84):    About MalaCards
    open-angle glaucoma    aquaporin-1 deficiency    bovine spongiform encephalopathy    skeletal muscle regeneration
    primary open angle glaucoma    diabetes insipidus    nephrogenic diabetes insipidus    cerebral amyloid angiopathy
    motion sickness    clear cell renal cell carcinoma    bullous keratopathy    polyhydramnios
    intractable epilepsy    hydrarthrosis    laryngeal squamous cell carcinoma    hemangioblastoma
    keratopathy    bacterial meningitis    dysferlinopathy    glaucoma

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

    10/45 Novoseek 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

    Publications
    for AQP1 gene

    (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 438):
    (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. The water channel gene in human uterus. (PubMed id 7517253)1, 2, 9 Li X.... Koide S.S. (1994)
    5. The human aquaporin-CHIP gene. Structure, organization, and chromosomal localization. (PubMed id 8340403)1, 2, 9 Moon C.... Agre P. (1993)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    8. A refined structure of human aquaporin-1. (PubMed id 11532455)1, 2 de Groot B.L.... Grubmueller H. (2001)
    9. Visualization of a water-selective pore by electron crystallography in vitreous ice. (PubMed id 11171962)1, 2 Ren G.... Mitra A.K. (2001)
    10. Structural determinants of water permeation through aquaporin-1. (PubMed id 11034202)1, 2 Murata K.... Fujiyoshi Y. (2000)

    External Searches for AQP1 gene

    (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)

    Genome Databases showing AQP1 gene

    (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

    Other Databases showing AQP1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing AQP1 gene

    (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

    Intellectual Property
    for AQP1 gene

    (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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    About This Section

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