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O94778

- AQP8_HUMAN

UniProt

O94778 - AQP8_HUMAN

Protein

Aquaporin-8

Gene

AQP8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 121 (01 Oct 2014)
      Sequence version 2 (10 May 2004)
      Previous versions | rss
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    Functioni

    Forms a water-specific channel; mercury-sensitive. Not permeable to glycerol or urea.

    GO - Molecular functioni

    1. water channel activity Source: ProtInc

    GO - Biological processi

    1. canalicular bile acid transport Source: Ensembl
    2. cellular response to cAMP Source: UniProtKB
    3. transmembrane transport Source: Reactome
    4. transport Source: ProtInc
    5. water transport Source: Reactome

    Keywords - Biological processi

    Transport

    Enzyme and pathway databases

    ReactomeiREACT_172715. Detoxification of Reactive Oxygen Species.
    REACT_23826. Passive transport by Aquaporins.

    Protein family/group databases

    TCDBi1.A.8.16.1. the major intrinsic protein (mip) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Aquaporin-8
    Short name:
    AQP-8
    Gene namesi
    Name:AQP8
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:642. AQP8.

    Subcellular locationi

    GO - Cellular componenti

    1. apical part of cell Source: UniProtKB
    2. integral component of plasma membrane Source: ProtInc
    3. intracellular canaliculus Source: Ensembl
    4. intracellular membrane-bounded organelle Source: Ensembl
    5. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA24926.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 261261Aquaporin-8PRO_0000063961Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi59 – 591N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi139 – 1391N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiO94778.
    PRIDEiO94778.

    Expressioni

    Tissue specificityi

    Expressed only in pancreas and colon.

    Gene expression databases

    BgeeiO94778.
    CleanExiHS_AQP8.
    GenevestigatoriO94778.

    Organism-specific databases

    HPAiHPA046259.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000219660.

    Structurei

    3D structure databases

    ProteinModelPortaliO94778.
    SMRiO94778. Positions 34-244.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 3636CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini58 – 8427ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini106 – 1072CytoplasmicSequence Analysis
    Topological domaini129 – 15628ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini178 – 1836CytoplasmicSequence Analysis
    Topological domaini205 – 22824ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini250 – 26112CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei37 – 5721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei85 – 10521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei108 – 12821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei157 – 17721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei184 – 20421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei229 – 24921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi92 – 943NPA 1
    Motifi210 – 2123NPA 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.
    HOVERGENiHBG100478.
    InParanoidiO94778.
    KOiK09869.
    OMAiWRVSWYE.
    OrthoDBiEOG7N8ZWD.
    PhylomeDBiO94778.
    TreeFamiTF312940.

    Family and domain databases

    Gene3Di1.20.1080.10. 1 hit.
    InterProiIPR023271. Aquaporin-like.
    IPR023277. Aquaporin_8.
    IPR000425. MIP.
    IPR022357. MIP_CS.
    [Graphical view]
    PANTHERiPTHR19139. PTHR19139. 1 hit.
    PfamiPF00230. MIP. 1 hit.
    [Graphical view]
    PRINTSiPR02020. AQUAPORIN8.
    PR00783. MINTRINSICP.
    SUPFAMiSSF81338. SSF81338. 1 hit.
    PROSITEiPS00221. MIP. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    O94778-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSGEIAMCEP EFGNDKAREP SVGGRWRVSW YERFVQPCLV ELLGSALFIF    50
    IGCLSVIENG TDTGLLQPAL AHGLALGLVI ATLGNISGGH FNPAVSLAAM 100
    LIGGLNLVML LPYWVSQLLG GMLGAALAKA VSPEERFWNA SGAAFVTVQE 150
    QGQVAGALVA EIILTTLLAL AVCMGAINEK TKGPLAPFSI GFAVTVDILA 200
    GGPVSGGCMN PARAFGPAVV ANHWNFHWIY WLGPLLAGLL VGLLIRCFIG 250
    DGKTRLILKA R 261
    Length:261
    Mass (Da):27,381
    Last modified:May 10, 2004 - v2
    Checksum:iB5328B07A2049B3B
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti130 – 1301A → V in BAA34223. (PubMed:9806845)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti229 – 2291I → M in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036484
    Natural varianti260 – 2601A → P.
    Corresponds to variant rs2287798 [ dbSNP | Ensembl ].
    VAR_021933

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB013456 mRNA. Translation: BAA34223.1.
    AF067797 mRNA. Translation: AAF19050.1.
    BC040630 mRNA. Translation: AAH40630.1.
    CCDSiCCDS10626.1.
    RefSeqiNP_001160.2. NM_001169.2.
    UniGeneiHs.176658.

    Genome annotation databases

    EnsembliENST00000219660; ENSP00000219660; ENSG00000103375.
    ENST00000566125; ENSP00000454457; ENSG00000103375.
    GeneIDi343.
    KEGGihsa:343.
    UCSCiuc002doc.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB013456 mRNA. Translation: BAA34223.1 .
    AF067797 mRNA. Translation: AAF19050.1 .
    BC040630 mRNA. Translation: AAH40630.1 .
    CCDSi CCDS10626.1.
    RefSeqi NP_001160.2. NM_001169.2.
    UniGenei Hs.176658.

    3D structure databases

    ProteinModelPortali O94778.
    SMRi O94778. Positions 34-244.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000219660.

    Chemistry

    GuidetoPHARMACOLOGYi 695.

    Protein family/group databases

    TCDBi 1.A.8.16.1. the major intrinsic protein (mip) family.

    Proteomic databases

    PaxDbi O94778.
    PRIDEi O94778.

    Protocols and materials databases

    DNASUi 343.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000219660 ; ENSP00000219660 ; ENSG00000103375 .
    ENST00000566125 ; ENSP00000454457 ; ENSG00000103375 .
    GeneIDi 343.
    KEGGi hsa:343.
    UCSCi uc002doc.3. human.

    Organism-specific databases

    CTDi 343.
    GeneCardsi GC16P025227.
    HGNCi HGNC:642. AQP8.
    HPAi HPA046259.
    MIMi 603750. gene.
    neXtProti NX_O94778.
    PharmGKBi PA24926.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0580.
    HOGENOMi HOG000288286.
    HOVERGENi HBG100478.
    InParanoidi O94778.
    KOi K09869.
    OMAi WRVSWYE.
    OrthoDBi EOG7N8ZWD.
    PhylomeDBi O94778.
    TreeFami TF312940.

    Enzyme and pathway databases

    Reactomei REACT_172715. Detoxification of Reactive Oxygen Species.
    REACT_23826. Passive transport by Aquaporins.

    Miscellaneous databases

    GeneWikii AQP8.
    GenomeRNAii 343.
    NextBioi 1415.
    PROi O94778.
    SOURCEi Search...

    Gene expression databases

    Bgeei O94778.
    CleanExi HS_AQP8.
    Genevestigatori O94778.

    Family and domain databases

    Gene3Di 1.20.1080.10. 1 hit.
    InterProi IPR023271. Aquaporin-like.
    IPR023277. Aquaporin_8.
    IPR000425. MIP.
    IPR022357. MIP_CS.
    [Graphical view ]
    PANTHERi PTHR19139. PTHR19139. 1 hit.
    Pfami PF00230. MIP. 1 hit.
    [Graphical view ]
    PRINTSi PR02020. AQUAPORIN8.
    PR00783. MINTRINSICP.
    SUPFAMi SSF81338. SSF81338. 1 hit.
    PROSITEi PS00221. MIP. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and functional expression of human aquaporin8 cDNA and analysis of its gene."
      Koyama N., Ishibashi K., Kuwahara M., Inase N., Ichioka M., Sasaki S., Marumo F.
      Genomics 54:169-172(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Testis.
    2. "Cloning, functional expression, localization and chromosomal mapping of human aquaporin 8."
      Tani T., Yamamoto T., Koyama Y., Nihei K., Funaki H., Ikeuchi T., Yaoita E., Kawasaki K., Sakai Y., Hatakeyama K., Kihara I.
      Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Colon.
    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] OF 7-261.
      Tissue: Colon.
    4. Cited for: VARIANT [LARGE SCALE ANALYSIS] MET-229.

    Entry informationi

    Entry nameiAQP8_HUMAN
    AccessioniPrimary (citable) accession number: O94778
    Secondary accession number(s): Q8IUU3, Q9UIA4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: May 10, 2004
    Last modified: October 1, 2014
    This is version 121 of the entry and version 2 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 16
      Human chromosome 16: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3