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O14520

- AQP7_HUMAN

UniProt

O14520 - AQP7_HUMAN

Protein

Aquaporin-7

Gene

AQP7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 1 (01 Jan 1998)
      Previous versions | rss
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    Functioni

    Forms a channel for water and glycerol.

    GO - Molecular functioni

    1. glycerol channel activity Source: Reactome
    2. urea channel activity Source: Ensembl
    3. water channel activity Source: ProtInc

    GO - Biological processi

    1. excretion Source: ProtInc
    2. generation of precursor metabolites and energy Source: ProtInc
    3. glycerol transport Source: Reactome
    4. renal water absorption Source: Ensembl
    5. response to drug Source: Ensembl
    6. spermatogenesis Source: Ensembl
    7. transmembrane transport Source: Reactome
    8. water transport Source: Reactome

    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-7
    Short name:
    AQP-7
    Alternative name(s):
    Aquaglyceroporin-7
    Aquaporin adipose
    Short name:
    AQPap
    Aquaporin-7-like
    Gene namesi
    Name:AQP7
    Synonyms:AQP7L, AQP9
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:640. AQP7.

    Subcellular locationi

    GO - Cellular componenti

    1. brush border membrane Source: Ensembl
    2. cell-cell junction Source: UniProtKB
    3. cytoplasm Source: UniProtKB
    4. integral component of plasma membrane Source: ProtInc
    5. plasma membrane Source: UniProtKB
    6. ribonucleoprotein complex Source: Ensembl

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    MIMi614411. phenotype.
    PharmGKBiPA24925.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 342342Aquaporin-7PRO_0000063958Add
    BLAST

    Proteomic databases

    PRIDEiO14520.

    Expressioni

    Gene expression databases

    ArrayExpressiO14520.
    BgeeiO14520.
    CleanExiHS_AQP7.
    HS_AQP9.
    GenevestigatoriO14520.

    Organism-specific databases

    HPAiHPA044049.
    HPA048106.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000297988.

    Structurei

    3D structure databases

    ProteinModelPortaliO14520.
    SMRiO14520. Positions 38-277.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 3636CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini58 – 658ExtracellularSequence Analysis
    Topological domaini87 – 11327CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini135 – 17036ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini192 – 1965CytoplasmicSequence Analysis
    Topological domaini218 – 25538ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini277 – 34266CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei37 – 5721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei66 – 8621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei114 – 13421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei171 – 19121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei197 – 21721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei256 – 27621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi94 – 963NPA 1
    Motifi226 – 2283NPA 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-Ala/Ser (NPA).

    Sequence similaritiesi

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    HOVERGENiHBG106057.
    InParanoidiO14520.
    KOiK08771.
    OMAiGMFPWAN.
    PhylomeDBiO14520.
    TreeFamiTF313173.

    Family and domain databases

    Gene3Di1.20.1080.10. 1 hit.
    InterProiIPR023271. Aquaporin-like.
    IPR015686. Aquaporin_7.
    IPR000425. MIP.
    [Graphical view]
    PANTHERiPTHR19139. PTHR19139. 1 hit.
    PTHR19139:SF16. PTHR19139:SF16. 1 hit.
    PfamiPF00230. MIP. 1 hit.
    [Graphical view]
    PRINTSiPR00783. MINTRINSICP.
    SUPFAMiSSF81338. SSF81338. 1 hit.
    TIGRFAMsiTIGR00861. MIP. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O14520-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MVQASGHRRS TRGSKMVSWS VIAKIQEILQ RKMVREFLAE FMSTYVMMVF    50
    GLGSVAHMVL NKKYGSYLGV NLGFGFGVTM GVHVAGRISG AHMNAAVTFA 100
    NCALGRVPWR KFPVYVLGQF LGSFLAAATI YSLFYTAILH FSGGQLMVTG 150
    PVATAGIFAT YLPDHMTLWR GFLNEAWLTG MLQLCLFAIT DQENNPALPG 200
    TEALVIGILV VIIGVSLGMN TGYAINPSRD LPPRIFTFIA GWGKQVFSNG 250
    ENWWWVPVVA PLLGAYLGGI IYLVFIGSTI PREPLKLEDS VAYEDHGITV 300
    LPKMGSHEPT ISPLTPVSVS PANRSSVHPA PPLHESMALE HF 342
    Length:342
    Mass (Da):37,232
    Last modified:January 1, 1998 - v1
    Checksum:i8A05F92B977D2F93
    GO
    Isoform 2 (identifier: O14520-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-92: Missing.
         248-342: SNGENWWWVP...LHESMALEHF → RYCPCPGPFL

    Show »
    Length:165
    Mass (Da):17,954
    Checksum:i2C120155978F5311
    GO

    Polymorphismi

    Genetic variations in AQP7 are responsible for changes in glycerol release during exercise and define the glycerol quantitative trait locus (GLYCQTL) [MIMi:614411].

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti12 – 121R → C.1 Publication
    Corresponds to variant rs139297434 [ dbSNP | Ensembl ].
    VAR_067253
    Natural varianti38 – 381L → V.
    Corresponds to variant rs2381003 [ dbSNP | Ensembl ].
    VAR_061343
    Natural varianti59 – 591V → L.1 Publication
    Corresponds to variant rs4008659 [ dbSNP | Ensembl ].
    VAR_067254
    Natural varianti63 – 631K → T.
    Corresponds to variant rs4008658 [ dbSNP | Ensembl ].
    VAR_061344
    Natural varianti264 – 2641G → V Polymorphism that affects water and glycerol transport. 2 Publications
    Corresponds to variant rs62542743 [ dbSNP | Ensembl ].
    VAR_067255

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 9292Missing in isoform 2. 2 PublicationsVSP_056249Add
    BLAST
    Alternative sequencei248 – 34295SNGEN…ALEHF → RYCPCPGPFL in isoform 2. 2 PublicationsVSP_056250Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB006190 mRNA. Translation: BAA21745.1.
    AB052626 Genomic DNA. Translation: BAC05693.1.
    AK300716 mRNA. Translation: BAH13332.1.
    AK315879 mRNA. Translation: BAF98770.1.
    AL356218 Genomic DNA. Translation: CAI13309.1.
    BC119672 mRNA. Translation: AAI19673.1.
    BC119673 mRNA. Translation: AAI19674.1.
    CCDSiCCDS6541.1.
    PIRiJC5791.
    RefSeqiNP_001161.1. NM_001170.1.
    XP_005251510.1. XM_005251453.1.
    UniGeneiHs.455323.

    Genome annotation databases

    EnsembliENST00000297988; ENSP00000297988; ENSG00000165269.
    ENST00000537089; ENSP00000441619; ENSG00000165269.
    GeneIDi364.
    KEGGihsa:364.
    UCSCiuc003zst.3. human.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB006190 mRNA. Translation: BAA21745.1 .
    AB052626 Genomic DNA. Translation: BAC05693.1 .
    AK300716 mRNA. Translation: BAH13332.1 .
    AK315879 mRNA. Translation: BAF98770.1 .
    AL356218 Genomic DNA. Translation: CAI13309.1 .
    BC119672 mRNA. Translation: AAI19673.1 .
    BC119673 mRNA. Translation: AAI19674.1 .
    CCDSi CCDS6541.1.
    PIRi JC5791.
    RefSeqi NP_001161.1. NM_001170.1.
    XP_005251510.1. XM_005251453.1.
    UniGenei Hs.455323.

    3D structure databases

    ProteinModelPortali O14520.
    SMRi O14520. Positions 38-277.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000297988.

    Chemistry

    GuidetoPHARMACOLOGYi 694.

    Proteomic databases

    PRIDEi O14520.

    Protocols and materials databases

    DNASUi 364.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000297988 ; ENSP00000297988 ; ENSG00000165269 .
    ENST00000537089 ; ENSP00000441619 ; ENSG00000165269 .
    GeneIDi 364.
    KEGGi hsa:364.
    UCSCi uc003zst.3. human.

    Organism-specific databases

    CTDi 364.
    GeneCardsi GC09M033384.
    H-InvDB HIX0008072.
    HIX0034850.
    HIX0034865.
    HGNCi HGNC:640. AQP7.
    HPAi HPA044049.
    HPA048106.
    MIMi 602974. gene.
    614411. phenotype.
    neXtProti NX_O14520.
    PharmGKBi PA24925.
    GenAtlasi Search...

    Phylogenomic databases

    HOVERGENi HBG106057.
    InParanoidi O14520.
    KOi K08771.
    OMAi GMFPWAN.
    PhylomeDBi O14520.
    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 AQP7.
    GenomeRNAii 364.
    NextBioi 1523.
    PROi O14520.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O14520.
    Bgeei O14520.
    CleanExi HS_AQP7.
    HS_AQP9.
    Genevestigatori O14520.

    Family and domain databases

    Gene3Di 1.20.1080.10. 1 hit.
    InterProi IPR023271. Aquaporin-like.
    IPR015686. Aquaporin_7.
    IPR000425. MIP.
    [Graphical view ]
    PANTHERi PTHR19139. PTHR19139. 1 hit.
    PTHR19139:SF16. PTHR19139:SF16. 1 hit.
    Pfami PF00230. MIP. 1 hit.
    [Graphical view ]
    PRINTSi PR00783. MINTRINSICP.
    SUPFAMi SSF81338. SSF81338. 1 hit.
    TIGRFAMsi TIGR00861. MIP. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning and expression of a novel human aquaporin from adipose tissue with glycerol permeability."
      Kuriyama H., Kawamoto S., Ishida N., Ohno I., Mita S., Matsuzawa Y., Matsubara K., Okubo K.
      Biochem. Biophys. Res. Commun. 241:53-58(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Adipose tissue.
    2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], INVOLVEMENT IN GLYCQTL, VARIANTS CYS-12; LEU-59 AND VAL-264, CHARACTERIZATION OF VARIANT VAL-264.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Skeletal muscle.
    4. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] (ISOFORM 2).
    6. "Adipose tissue expression of the glycerol channel aquaporin-7 gene is altered in severe obesity but not in type 2 diabetes."
      Ceperuelo-Mallafre V., Miranda M., Chacon M.R., Vilarrasa N., Megia A., Gutierrez C., Fernandez-Real J.M., Gomez J.M., Caubet E., Fruhbeck G., Vendrell J.
      J. Clin. Endocrinol. Metab. 92:3640-3645(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT VAL-264.

    Entry informationi

    Entry nameiAQP7_HUMAN
    AccessioniPrimary (citable) accession number: O14520
    Secondary accession number(s): Q08E94, Q5T5L9, Q8NHM3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: January 1, 1998
    Last modified: October 1, 2014
    This is version 115 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: 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