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P55064

- AQP5_HUMAN

UniProt

P55064 - AQP5_HUMAN

Protein

Aquaporin-5

Gene

AQP5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 122 (01 Oct 2014)
      Sequence version 1 (01 Oct 1996)
      Previous versions | rss
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    Functioni

    Forms a water-specific channel. Implicated in the generation of saliva, tears, and pulmonary secretions.

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. water channel activity Source: UniProtKB

    GO - Biological processi

    1. camera-type eye morphogenesis Source: Ensembl
    2. carbon dioxide transport Source: UniProtKB
    3. excretion Source: ProtInc
    4. odontogenesis Source: UniProtKB
    5. pancreatic juice secretion Source: UniProtKB
    6. saliva secretion Source: Ensembl
    7. transmembrane transport Source: Reactome
    8. water transport Source: Reactome

    Keywords - Biological processi

    Transport

    Enzyme and pathway databases

    ReactomeiREACT_23826. Passive transport by Aquaporins.

    Protein family/group databases

    TCDBi1.A.8.8.9. the major intrinsic protein (mip) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Aquaporin-5
    Short name:
    AQP-5
    Gene namesi
    Name:AQP5
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:638. AQP5.

    Subcellular locationi

    GO - Cellular componenti

    1. apical plasma membrane Source: UniProtKB
    2. basal plasma membrane Source: Ensembl
    3. endoplasmic reticulum Source: Ensembl
    4. extracellular vesicular exosome Source: UniProt
    5. integral component of plasma membrane Source: ProtInc
    6. microvillus Source: Ensembl
    7. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231]: A dermatological disorder characterized by diffuse non-epidermolytic hyperkeratosis of the skin of palms and soles. PPKB is frequently complicated by fungal infections.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti38 – 381A → E in PPKB; retains the ability to traffic to the cell membrane. 1 Publication
    VAR_070442
    Natural varianti45 – 451I → S in PPKB; retains the ability to traffic to the cell membrane. 1 Publication
    VAR_070443
    Natural varianti123 – 1231N → D in PPKB; retains the ability to traffic to the cell membrane. 1 Publication
    VAR_070444
    Natural varianti177 – 1771I → F in PPKB; retains the ability to traffic to the cell membrane. 1 Publication
    VAR_070445
    Natural varianti188 – 1881R → C in PPKB; retains the ability to traffic to the cell membrane. 1 Publication
    VAR_070446

    Keywords - Diseasei

    Disease mutation, Palmoplantar keratoderma

    Organism-specific databases

    MIMi600231. phenotype.
    Orphaneti2337. Non-epidermolytic palmoplantar keratoderma.
    PharmGKBiPA24923.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 265265Aquaporin-5PRO_0000063951Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi124 – 1241N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi125 – 1251N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiP55064.
    PRIDEiP55064.

    PTM databases

    PhosphoSiteiP55064.

    Expressioni

    Gene expression databases

    BgeeiP55064.
    CleanExiHS_AQP5.
    GenevestigatoriP55064.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    MDFIQ997503EBI-746103,EBI-724076

    Protein-protein interaction databases

    BioGridi106858. 3 interactions.
    DIPiDIP-46292N.
    IntActiP55064. 4 interactions.
    MINTiMINT-1442891.
    STRINGi9606.ENSP00000293599.

    Structurei

    Secondary structure

    1
    265
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi2 – 54
    Helixi8 – 3225
    Beta strandi36 – 383
    Helixi42 – 6423
    Helixi70 – 789
    Beta strandi80 – 823
    Helixi84 – 10825
    Helixi111 – 1144
    Turni115 – 1184
    Helixi128 – 15023
    Helixi161 – 18020
    Helixi186 – 19611
    Helixi203 – 22321
    Turni233 – 2353
    Helixi236 – 2394

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3D9SX-ray2.00A/B/C/D2-265[»]
    ProteinModelPortaliP55064.
    SMRiP55064. Positions 2-245.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP55064.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 1212CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini34 – 363ExtracellularSequence Analysis
    Topological domaini58 – 8730CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini109 – 12618ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini148 – 16114CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini183 – 20523ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini227 – 26539CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei13 – 3321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei37 – 5721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei88 – 10821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei127 – 14721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei162 – 18221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei206 – 22621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi69 – 713NPA 1
    Motifi185 – 1873NPA 2

    Domaini

    Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA).

    Sequence similaritiesi

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0580.
    HOGENOMiHOG000288286.
    HOVERGENiHBG000312.
    InParanoidiP55064.
    KOiK09867.
    OMAiMNRFSPS.
    OrthoDBiEOG7N8ZWD.
    PhylomeDBiP55064.
    TreeFamiTF312940.

    Family and domain databases

    Gene3Di1.20.1080.10. 1 hit.
    InterProiIPR023271. Aquaporin-like.
    IPR023276. Aquaporin_5.
    IPR000425. MIP.
    IPR022357. MIP_CS.
    [Graphical view]
    PANTHERiPTHR19139. PTHR19139. 1 hit.
    PfamiPF00230. MIP. 1 hit.
    [Graphical view]
    PRINTSiPR02017. AQUAPORIN5.
    PR00783. MINTRINSICP.
    SUPFAMiSSF81338. SSF81338. 1 hit.
    TIGRFAMsiTIGR00861. MIP. 1 hit.
    PROSITEiPS00221. MIP. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P55064-1 [UniParc]FASTAAdd to Basket

    « Hide

    MKKEVCSVAF LKAVFAEFLA TLIFVFFGLG SALKWPSALP TILQIALAFG    50
    LAIGTLAQAL GPVSGGHINP AITLALLVGN QISLLRAFFY VAAQLVGAIA 100
    GAGILYGVAP LNARGNLAVN ALNNNTTQGQ AMVVELILTF QLALCIFAST 150
    DSRRTSPVGS PALSIGLSVT LGHLVGIYFT GCSMNPARSF GPAVVMNRFS 200
    PAHWVFWVGP IVGAVLAAIL YFYLLFPNSL SLSERVAIIK GTYEPDEDWE 250
    EQREERKKTM ELTTR 265
    Length:265
    Mass (Da):28,292
    Last modified:October 1, 1996 - v1
    Checksum:i053C10E6A17EAFDA
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti38 – 381A → E in PPKB; retains the ability to traffic to the cell membrane. 1 Publication
    VAR_070442
    Natural varianti45 – 451I → S in PPKB; retains the ability to traffic to the cell membrane. 1 Publication
    VAR_070443
    Natural varianti123 – 1231N → D in PPKB; retains the ability to traffic to the cell membrane. 1 Publication
    VAR_070444
    Natural varianti177 – 1771I → F in PPKB; retains the ability to traffic to the cell membrane. 1 Publication
    VAR_070445
    Natural varianti188 – 1881R → C in PPKB; retains the ability to traffic to the cell membrane. 1 Publication
    VAR_070446

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U46569
    , U46566, U46567, U46568 Genomic DNA. Translation: AAC50474.1.
    CR541989 mRNA. Translation: CAG46786.1.
    CR542022 mRNA. Translation: CAG46819.1.
    BC032946 mRNA. Translation: AAH32946.1.
    CCDSiCCDS8793.1.
    RefSeqiNP_001642.1. NM_001651.3.
    UniGeneiHs.298023.

    Genome annotation databases

    EnsembliENST00000293599; ENSP00000293599; ENSG00000161798.
    GeneIDi362.
    KEGGihsa:362.
    UCSCiuc001rvo.3. human.

    Polymorphism databases

    DMDMi1703358.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U46569
    , U46566 , U46567 , U46568 Genomic DNA. Translation: AAC50474.1 .
    CR541989 mRNA. Translation: CAG46786.1 .
    CR542022 mRNA. Translation: CAG46819.1 .
    BC032946 mRNA. Translation: AAH32946.1 .
    CCDSi CCDS8793.1.
    RefSeqi NP_001642.1. NM_001651.3.
    UniGenei Hs.298023.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3D9S X-ray 2.00 A/B/C/D 2-265 [» ]
    ProteinModelPortali P55064.
    SMRi P55064. Positions 2-245.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106858. 3 interactions.
    DIPi DIP-46292N.
    IntActi P55064. 4 interactions.
    MINTi MINT-1442891.
    STRINGi 9606.ENSP00000293599.

    Chemistry

    GuidetoPHARMACOLOGYi 692.

    Protein family/group databases

    TCDBi 1.A.8.8.9. the major intrinsic protein (mip) family.

    PTM databases

    PhosphoSitei P55064.

    Polymorphism databases

    DMDMi 1703358.

    Proteomic databases

    PaxDbi P55064.
    PRIDEi P55064.

    Protocols and materials databases

    DNASUi 362.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000293599 ; ENSP00000293599 ; ENSG00000161798 .
    GeneIDi 362.
    KEGGi hsa:362.
    UCSCi uc001rvo.3. human.

    Organism-specific databases

    CTDi 362.
    GeneCardsi GC12P050411.
    HGNCi HGNC:638. AQP5.
    MIMi 600231. phenotype.
    600442. gene.
    neXtProti NX_P55064.
    Orphaneti 2337. Non-epidermolytic palmoplantar keratoderma.
    PharmGKBi PA24923.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0580.
    HOGENOMi HOG000288286.
    HOVERGENi HBG000312.
    InParanoidi P55064.
    KOi K09867.
    OMAi MNRFSPS.
    OrthoDBi EOG7N8ZWD.
    PhylomeDBi P55064.
    TreeFami TF312940.

    Enzyme and pathway databases

    Reactomei REACT_23826. Passive transport by Aquaporins.

    Miscellaneous databases

    EvolutionaryTracei P55064.
    GeneWikii AQP5.
    GenomeRNAii 362.
    NextBioi 1515.
    PROi P55064.
    SOURCEi Search...

    Gene expression databases

    Bgeei P55064.
    CleanExi HS_AQP5.
    Genevestigatori P55064.

    Family and domain databases

    Gene3Di 1.20.1080.10. 1 hit.
    InterProi IPR023271. Aquaporin-like.
    IPR023276. Aquaporin_5.
    IPR000425. MIP.
    IPR022357. MIP_CS.
    [Graphical view ]
    PANTHERi PTHR19139. PTHR19139. 1 hit.
    Pfami PF00230. MIP. 1 hit.
    [Graphical view ]
    PRINTSi PR02017. AQUAPORIN5.
    PR00783. MINTRINSICP.
    SUPFAMi SSF81338. SSF81338. 1 hit.
    TIGRFAMsi TIGR00861. MIP. 1 hit.
    PROSITEi PS00221. MIP. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The human aquaporin-5 gene. Molecular characterization and chromosomal localization."
      Lee M.D., Bhakta K.Y., Raina S., Yonescu R., Griffin C.A., Copeland N.G., Gilbert D.J., Jenkins N.A., Preston G.M., Agre P.
      J. Biol. Chem. 271:8599-8604(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Testis.
    4. "Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma."
      Blaydon D.C., Lind L.K., Plagnol V., Linton K.J., Smith F.J., Wilson N.J., McLean W.H., Munro C.S., South A.P., Leigh I.M., O'Toole E.A., Lundstroem A., Kelsell D.P.
      Am. J. Hum. Genet. 93:330-335(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PPKB GLU-38; SER-45; ASP-123; PHE-177 AND CYS-188, CHARACTERIZATION OF VARIANTS GLU-38; SER-45; ASP-123; PHE-177 AND CYS-188.

    Entry informationi

    Entry nameiAQP5_HUMAN
    AccessioniPrimary (citable) accession number: P55064
    Secondary accession number(s): Q6FGW8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: October 1, 1996
    Last modified: October 1, 2014
    This is version 122 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3