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O43315

- AQP9_HUMAN

UniProt

O43315 - AQP9_HUMAN

Protein

Aquaporin-9

Gene

AQP9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 126 (01 Oct 2014)
      Sequence version 2 (11 Jan 2011)
      Previous versions | rss
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    Functioni

    Forms a channel with a broad specificity. Mediates passage of a wide variety of non-charged solutes including carbamides, polyols, purines, and pyrimidines in a phloretin- and mercury-sensitive manner, whereas amino acids, cyclic sugars, Na+, K+, Cl-, and deprotonated monocarboxylates are excluded. Also permeable to urea and glycerol.1 Publication

    GO - Molecular functioni

    1. amine transmembrane transporter activity Source: UniProtKB
    2. carboxylic acid transmembrane transporter activity Source: UniProtKB
    3. glycerol channel activity Source: Reactome
    4. polyol transmembrane transporter activity Source: UniProtKB
    5. porin activity Source: UniProtKB
    6. purine nucleobase transmembrane transporter activity Source: UniProtKB
    7. pyrimidine nucleobase transmembrane transporter activity Source: UniProtKB
    8. water channel activity Source: UniProtKB
    9. water transmembrane transporter activity Source: UniProtKB

    GO - Biological processi

    1. amine transport Source: UniProtKB
    2. canalicular bile acid transport Source: Ensembl
    3. carboxylic acid transport Source: UniProtKB
    4. cellular response to cAMP Source: UniProtKB
    5. excretion Source: UniProtKB
    6. glycerol transport Source: Reactome
    7. immune response Source: ProtInc
    8. metabolic process Source: UniProtKB
    9. polyol transport Source: UniProtKB
    10. purine nucleobase transport Source: UniProtKB
    11. pyrimidine-containing compound transmembrane transport Source: GOC
    12. pyrimidine nucleobase transport Source: UniProtKB
    13. response to mercury ion Source: UniProtKB
    14. response to organic substance Source: UniProtKB
    15. response to osmotic stress Source: UniProtKB
    16. transmembrane transport Source: Reactome
    17. transport Source: UniProtKB
    18. water homeostasis Source: UniProtKB
    19. water transport Source: UniProtKB

    Keywords - Biological processi

    Transport

    Enzyme and pathway databases

    ReactomeiREACT_23809. Transport of glycerol from adipocytes to the liver by Aquaporins.
    REACT_23826. Passive transport by Aquaporins.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Aquaporin-9
    Short name:
    AQP-9
    Alternative name(s):
    Aquaglyceroporin-9
    Small solute channel 1
    Gene namesi
    Name:AQP9
    Synonyms:SSC1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:643. AQP9.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    MIMi602914. gene+phenotype.
    PharmGKBiPA24927.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 295295Aquaporin-9PRO_0000063964Add
    BLAST

    Proteomic databases

    PaxDbiO43315.
    PRIDEiO43315.

    PTM databases

    PhosphoSiteiO43315.

    Expressioni

    Tissue specificityi

    Highly expressed in peripheral leukocytes. Also expressed in liver, lung, and spleen.

    Gene expression databases

    ArrayExpressiO43315.
    BgeeiO43315.
    CleanExiHS_AQP9.
    GenevestigatoriO43315.

    Interactioni

    Protein-protein interaction databases

    BioGridi106861. 1 interaction.
    STRINGi9606.ENSP00000219919.

    Structurei

    3D structure databases

    ProteinModelPortaliO43315.
    SMRiO43315. Positions 21-269.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2929CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini51 – 544ExtracellularSequence Analysis
    Topological domaini76 – 11035CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini132 – 15827ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini180 – 18910CytoplasmicSequence Analysis
    Topological domaini211 – 24535ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini267 – 29529CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei30 – 5021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei55 – 7521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei111 – 13121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei159 – 17921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei190 – 21021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei246 – 26621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi84 – 863NPA 1
    Motifi216 – 2183NPA 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.
    HOGENOMiHOG000288287.
    HOVERGENiHBG106057.
    InParanoidiO43315.
    KOiK09877.
    OMAiMIGENSF.
    PhylomeDBiO43315.
    TreeFamiTF313173.

    Family and domain databases

    Gene3Di1.20.1080.10. 1 hit.
    InterProiIPR023271. Aquaporin-like.
    IPR015685. Aquaporin_9.
    IPR000425. MIP.
    IPR022357. MIP_CS.
    [Graphical view]
    PANTHERiPTHR19139. PTHR19139. 1 hit.
    PTHR19139:SF15. PTHR19139:SF15. 1 hit.
    PfamiPF00230. MIP. 1 hit.
    [Graphical view]
    PRINTSiPR02021. AQUAPORIN9.
    PR00783. MINTRINSICP.
    SUPFAMiSSF81338. SSF81338. 1 hit.
    TIGRFAMsiTIGR00861. MIP. 1 hit.
    PROSITEiPS00221. MIP. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    O43315-1 [UniParc]FASTAAdd to Basket

    « Hide

    MQPEGAEKGK SFKQRLVLKS SLAKETLSEF LGTFILIVLG CGCVAQAILS    50
    RGRFGGVITI NVGFSMAVAM AIYVAGGVSG GHINPAVSLA MCLFGRMKWF 100
    KLPFYVGAQF LGAFVGAATV FGIYYDGLMS FAGGKLLIVG ENATAHIFAT 150
    YPAPYLSLAN AFADQVVATM ILLIIVFAIF DSRNLGAPRG LEPIAIGLLI 200
    IVIASSLGLN SGCAMNPARD LSPRLFTALA GWGFEVFRAG NNFWWIPVVG 250
    PLVGAVIGGL IYVLVIEIHH PEPDSVFKTE QSEDKPEKYE LSVIM 295
    Length:295
    Mass (Da):31,431
    Last modified:January 11, 2011 - v2
    Checksum:iB3B416CD9F1F9CAF
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti279 – 2791T → A.3 Publications
    Corresponds to variant rs1867380 [ dbSNP | Ensembl ].
    VAR_024538

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB008775 mRNA. Translation: BAA24864.1.
    AF016495 mRNA. Translation: AAF16677.1.
    AF102870 Genomic DNA. Translation: AAF27983.1.
    AC025431 Genomic DNA. No translation available.
    AC066616 Genomic DNA. No translation available.
    BC026258 mRNA. Translation: AAH26258.1.
    CCDSiCCDS10165.1.
    PIRiJC5973.
    RefSeqiNP_066190.2. NM_020980.3.
    UniGeneiHs.104624.

    Genome annotation databases

    EnsembliENST00000219919; ENSP00000219919; ENSG00000103569.
    ENST00000536493; ENSP00000441390; ENSG00000103569.
    GeneIDi366.
    KEGGihsa:366.
    UCSCiuc002aez.2. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB008775 mRNA. Translation: BAA24864.1 .
    AF016495 mRNA. Translation: AAF16677.1 .
    AF102870 Genomic DNA. Translation: AAF27983.1 .
    AC025431 Genomic DNA. No translation available.
    AC066616 Genomic DNA. No translation available.
    BC026258 mRNA. Translation: AAH26258.1 .
    CCDSi CCDS10165.1.
    PIRi JC5973.
    RefSeqi NP_066190.2. NM_020980.3.
    UniGenei Hs.104624.

    3D structure databases

    ProteinModelPortali O43315.
    SMRi O43315. Positions 21-269.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106861. 1 interaction.
    STRINGi 9606.ENSP00000219919.

    Chemistry

    GuidetoPHARMACOLOGYi 696.

    PTM databases

    PhosphoSitei O43315.

    Proteomic databases

    PaxDbi O43315.
    PRIDEi O43315.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000219919 ; ENSP00000219919 ; ENSG00000103569 .
    ENST00000536493 ; ENSP00000441390 ; ENSG00000103569 .
    GeneIDi 366.
    KEGGi hsa:366.
    UCSCi uc002aez.2. human.

    Organism-specific databases

    CTDi 366.
    GeneCardsi GC15P058430.
    H-InvDB HIX0012281.
    HGNCi HGNC:643. AQP9.
    MIMi 602914. gene+phenotype.
    neXtProti NX_O43315.
    PharmGKBi PA24927.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0580.
    HOGENOMi HOG000288287.
    HOVERGENi HBG106057.
    InParanoidi O43315.
    KOi K09877.
    OMAi MIGENSF.
    PhylomeDBi O43315.
    TreeFami TF313173.

    Enzyme and pathway databases

    Reactomei REACT_23809. Transport of glycerol from adipocytes to the liver by Aquaporins.
    REACT_23826. Passive transport by Aquaporins.

    Miscellaneous databases

    GeneWikii AQP9.
    GenomeRNAii 366.
    NextBioi 1527.
    PROi O43315.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O43315.
    Bgeei O43315.
    CleanExi HS_AQP9.
    Genevestigatori O43315.

    Family and domain databases

    Gene3Di 1.20.1080.10. 1 hit.
    InterProi IPR023271. Aquaporin-like.
    IPR015685. Aquaporin_9.
    IPR000425. MIP.
    IPR022357. MIP_CS.
    [Graphical view ]
    PANTHERi PTHR19139. PTHR19139. 1 hit.
    PTHR19139:SF15. PTHR19139:SF15. 1 hit.
    Pfami PF00230. MIP. 1 hit.
    [Graphical view ]
    PRINTSi PR02021. AQUAPORIN9.
    PR00783. MINTRINSICP.
    SUPFAMi SSF81338. SSF81338. 1 hit.
    TIGRFAMsi TIGR00861. MIP. 1 hit.
    PROSITEi PS00221. MIP. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and functional expression of a new aquaporin (AQP9) abundantly expressed in the peripheral leukocytes permeable to water and urea, but not to glycerol."
      Ishibashi K., Kuwahara M., Gu Y., Tanaka Y., Marumo F., Sasaki S.
      Biochem. Biophys. Res. Commun. 244:268-274(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ALA-279.
      Tissue: Liver.
    2. "Functional and molecular characterization of the human neutral solute channel aquaporin-9."
      Tsukaguchi H., Weremowicz S., Morton C.C., Hediger M.A.
      Am. J. Physiol. 277:F685-F696(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, VARIANT ALA-279.
    3. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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], VARIANT ALA-279.
      Tissue: Liver.

    Entry informationi

    Entry nameiAQP9_HUMAN
    AccessioniPrimary (citable) accession number: O43315
    Secondary accession number(s): Q9NP32
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 15, 1998
    Last sequence update: January 11, 2011
    Last modified: October 1, 2014
    This is version 126 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 15
      Human chromosome 15: 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