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Q13520

- AQP6_HUMAN

UniProt

Q13520 - AQP6_HUMAN

Protein

Aquaporin-6

Gene

AQP6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 120 (01 Oct 2014)
      Sequence version 2 (04 Nov 2008)
      Previous versions | rss
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    Functioni

    Forms a water-specific channel that participates in distinct physiological functions such as glomerular filtration, tubular endocytosis and acid-base metabolism.By similarity

    GO - Molecular functioni

    1. anion channel activity Source: Reactome
    2. nitrate transmembrane transporter activity Source: Ensembl
    3. water channel activity Source: ProtInc

    GO - Biological processi

    1. excretion Source: ProtInc
    2. odontogenesis 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_23826. Passive transport by Aquaporins.

    Protein family/group databases

    TCDBi1.A.8.8.4. the major intrinsic protein (mip) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Aquaporin-6
    Short name:
    AQP-6
    Alternative name(s):
    Aquaporin-2-like
    Kidney-specific aquaporin
    Short name:
    hKID
    Gene namesi
    Name:AQP6
    Synonyms:AQP2L
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:639. AQP6.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of plasma membrane Source: ProtInc
    2. transport vesicle membrane Source: Reactome

    Keywords - Cellular componenti

    Cytoplasmic vesicle, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA24924.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 282282Aquaporin-6PRO_0000063955Add
    BLAST

    Proteomic databases

    PaxDbiQ13520.
    PRIDEiQ13520.

    PTM databases

    PhosphoSiteiQ13520.

    Expressioni

    Gene expression databases

    ArrayExpressiQ13520.
    BgeeiQ13520.
    CleanExiHS_AQP6.
    GenevestigatoriQ13520.

    Organism-specific databases

    HPAiHPA015278.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000320247.

    Structurei

    Secondary structure

    1
    282
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi15 – 4228
    Beta strandi44 – 496
    Helixi55 – 7218
    Beta strandi75 – 784
    Helixi83 – 908
    Helixi101 – 12121
    Turni126 – 1294
    Beta strandi139 – 1424
    Helixi143 – 16119
    Helixi171 – 18717
    Turni188 – 1903
    Helixi198 – 2047
    Helixi212 – 23221

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1S6Emodel-A1-282[»]
    ProteinModelPortaliQ13520.
    SMRiQ13520. Positions 22-254.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 3030CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini49 – 546ExtracellularSequence Analysis
    Topological domaini74 – 9926CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini122 – 14120ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini163 – 1686CytoplasmicSequence Analysis
    Topological domaini189 – 21426ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini237 – 28246CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei31 – 4818HelicalSequence AnalysisAdd
    BLAST
    Transmembranei55 – 7319HelicalSequence AnalysisAdd
    BLAST
    Transmembranei100 – 12122HelicalSequence AnalysisAdd
    BLAST
    Transmembranei142 – 16221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei169 – 18820HelicalSequence AnalysisAdd
    BLAST
    Transmembranei215 – 23622HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi82 – 843NPA 1
    Motifi196 – 1983NPA 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.
    InParanoidiQ13520.
    KOiK09868.
    OMAiVHWVFWV.
    PhylomeDBiQ13520.
    TreeFamiTF312940.

    Family and domain databases

    Gene3Di1.20.1080.10. 1 hit.
    InterProiIPR023271. Aquaporin-like.
    IPR023254. Aquaporin_6.
    IPR000425. MIP.
    IPR022357. MIP_CS.
    [Graphical view]
    PANTHERiPTHR19139. PTHR19139. 1 hit.
    PfamiPF00230. MIP. 1 hit.
    [Graphical view]
    PRINTSiPR02018. AQUAPORIN6.
    PR00783. MINTRINSICP.
    SUPFAMiSSF81338. SSF81338. 1 hit.
    TIGRFAMsiTIGR00861. MIP. 1 hit.
    PROSITEiPS00221. MIP. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q13520-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDAVEPGGRG WASMLACRLW KAISRALFAE FLATGLYVFF GVGSVMRWPT    50
    ALPSVLQIAI TFNLVTAMAV QVTWKASGAH ANPAVTLAFL VGSHISLPRA 100
    VAYVAAQLVG ATVGAALLYG VMPGDIRETL GINVVRNSVS TGQAVAVELL 150
    LTLQLVLCVF ASTDSRQTSG SPATMIGISV ALGHLIGIHF TGCSMNPARS 200
    FGPAIIIGKF TVHWVFWVGP LMGALLASLI YNFVLFPDTK TLAQRLAILT 250
    GTVEVGTGAG AGAEPLKKES QPGSGAVEME SV 282
    Length:282
    Mass (Da):29,370
    Last modified:November 4, 2008 - v2
    Checksum:iBDA1B3DFCA5C685E
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti4 – 52VE → EV in AAB41566. (PubMed:8812490)Curated
    Sequence conflicti76 – 761A → T in AAB41566. (PubMed:8812490)Curated
    Sequence conflicti180 – 1801V → W in AAB41566. (PubMed:8812490)Curated
    Sequence conflicti189 – 1891H → L in AAB41566. (PubMed:8812490)Curated
    Sequence conflicti260 – 2601G → R in AAB41566. (PubMed:8812490)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti234 – 2341V → I.
    Corresponds to variant rs17124220 [ dbSNP | Ensembl ].
    VAR_047233

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U48408 mRNA. Translation: AAB41566.1.
    AC025154 Genomic DNA. No translation available.
    CCDSiCCDS31798.1.
    RefSeqiNP_001643.2. NM_001652.3.
    UniGeneiHs.54505.

    Genome annotation databases

    EnsembliENST00000315520; ENSP00000320247; ENSG00000086159.
    GeneIDi363.
    KEGGihsa:363.
    UCSCiuc001rvr.1. human.

    Polymorphism databases

    DMDMi212276421.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U48408 mRNA. Translation: AAB41566.1 .
    AC025154 Genomic DNA. No translation available.
    CCDSi CCDS31798.1.
    RefSeqi NP_001643.2. NM_001652.3.
    UniGenei Hs.54505.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1S6E model - A 1-282 [» ]
    ProteinModelPortali Q13520.
    SMRi Q13520. Positions 22-254.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000320247.

    Chemistry

    GuidetoPHARMACOLOGYi 693.

    Protein family/group databases

    TCDBi 1.A.8.8.4. the major intrinsic protein (mip) family.

    PTM databases

    PhosphoSitei Q13520.

    Polymorphism databases

    DMDMi 212276421.

    Proteomic databases

    PaxDbi Q13520.
    PRIDEi Q13520.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000315520 ; ENSP00000320247 ; ENSG00000086159 .
    GeneIDi 363.
    KEGGi hsa:363.
    UCSCi uc001rvr.1. human.

    Organism-specific databases

    CTDi 363.
    GeneCardsi GC12P050417.
    HGNCi HGNC:639. AQP6.
    HPAi HPA015278.
    MIMi 601383. gene.
    neXtProti NX_Q13520.
    PharmGKBi PA24924.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0580.
    HOGENOMi HOG000288286.
    HOVERGENi HBG000312.
    InParanoidi Q13520.
    KOi K09868.
    OMAi VHWVFWV.
    PhylomeDBi Q13520.
    TreeFami TF312940.

    Enzyme and pathway databases

    Reactomei REACT_23826. Passive transport by Aquaporins.

    Miscellaneous databases

    GeneWikii AQP6.
    GenomeRNAii 363.
    NextBioi 1519.
    PROi Q13520.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q13520.
    Bgeei Q13520.
    CleanExi HS_AQP6.
    Genevestigatori Q13520.

    Family and domain databases

    Gene3Di 1.20.1080.10. 1 hit.
    InterProi IPR023271. Aquaporin-like.
    IPR023254. Aquaporin_6.
    IPR000425. MIP.
    IPR022357. MIP_CS.
    [Graphical view ]
    PANTHERi PTHR19139. PTHR19139. 1 hit.
    Pfami PF00230. MIP. 1 hit.
    [Graphical view ]
    PRINTSi PR02018. AQUAPORIN6.
    PR00783. MINTRINSICP.
    SUPFAMi SSF81338. SSF81338. 1 hit.
    TIGRFAMsi TIGR00861. MIP. 1 hit.
    PROSITEi PS00221. MIP. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "cDNA cloning and gene structure of a novel water channel expressed exclusively in human kidney: evidence for a gene cluster of aquaporins at chromosome locus 12q13."
      Ma T., Yang B., Kuo W.L., Verkman A.S.
      Genomics 35:543-550(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Kidney.
    2. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

    Entry informationi

    Entry nameiAQP6_HUMAN
    AccessioniPrimary (citable) accession number: Q13520
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: November 4, 2008
    Last modified: October 1, 2014
    This is version 120 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

    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