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O14520

- AQP7_HUMAN

UniProt

O14520 - AQP7_HUMAN

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Protein

Aquaporin-7

Gene

AQP7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Forms a channel for water and glycerol.

GO - Molecular functioni

  1. glycerol channel activity Source: Reactome
  2. 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. transmembrane transport Source: Reactome
  5. water transport Source: Reactome
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3636CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei37 – 5721HelicalSequence AnalysisAdd
BLAST
Topological domaini58 – 658ExtracellularSequence Analysis
Transmembranei66 – 8621HelicalSequence AnalysisAdd
BLAST
Topological domaini87 – 11327CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei114 – 13421HelicalSequence AnalysisAdd
BLAST
Topological domaini135 – 17036ExtracellularSequence AnalysisAdd
BLAST
Transmembranei171 – 19121HelicalSequence AnalysisAdd
BLAST
Topological domaini192 – 1965CytoplasmicSequence Analysis
Transmembranei197 – 21721HelicalSequence AnalysisAdd
BLAST
Topological domaini218 – 25538ExtracellularSequence AnalysisAdd
BLAST
Transmembranei256 – 27621HelicalSequence AnalysisAdd
BLAST
Topological domaini277 – 34266CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. cell-cell junction Source: UniProtKB
  2. cytoplasm Source: UniProtKB
  3. integral component of plasma membrane Source: ProtInc
  4. plasma membrane Source: UniProtKB
Complete GO annotation...

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

BgeeiO14520.
CleanExiHS_AQP7.
HS_AQP9.
ExpressionAtlasiO14520. baseline.
GenevestigatoriO14520.

Organism-specific databases

HPAiHPA044049.
HPA048106.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000297988.

Structurei

3D structure databases

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

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

GeneTreeiENSGT00510000046311.
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

        10         20         30         40         50
MVQASGHRRS TRGSKMVSWS VIAKIQEILQ RKMVREFLAE FMSTYVMMVF
60 70 80 90 100
GLGSVAHMVL NKKYGSYLGV NLGFGFGVTM GVHVAGRISG AHMNAAVTFA
110 120 130 140 150
NCALGRVPWR KFPVYVLGQF LGSFLAAATI YSLFYTAILH FSGGQLMVTG
160 170 180 190 200
PVATAGIFAT YLPDHMTLWR GFLNEAWLTG MLQLCLFAIT DQENNPALPG
210 220 230 240 250
TEALVIGILV VIIGVSLGMN TGYAINPSRD LPPRIFTFIA GWGKQVFSNG
260 270 280 290 300
ENWWWVPVVA PLLGAYLGGI IYLVFIGSTI PREPLKLEDS VAYEDHGITV
310 320 330 340
LPKMGSHEPT ISPLTPVSVS PANRSSVHPA PPLHESMALE HF
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:
EMBLi
GenBanki
DDBJi
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. [O14520-1]
PIRiJC5791.
RefSeqiNP_001161.1. NM_001170.1. [O14520-1]
XP_005251510.1. XM_005251453.1. [O14520-1]
UniGeneiHs.455323.

Genome annotation databases

EnsembliENST00000297988; ENSP00000297988; ENSG00000165269. [O14520-1]
ENST00000447660; ENSP00000412868; ENSG00000165269. [O14520-2]
GeneIDi364.
KEGGihsa:364.
UCSCiuc003zst.3. human. [O14520-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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. [O14520-1 ]
PIRi JC5791.
RefSeqi NP_001161.1. NM_001170.1. [O14520-1 ]
XP_005251510.1. XM_005251453.1. [O14520-1 ]
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 . [O14520-1 ]
ENST00000447660 ; ENSP00000412868 ; ENSG00000165269 . [O14520-2 ]
GeneIDi 364.
KEGGi hsa:364.
UCSCi uc003zst.3. human. [O14520-1 ]

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

GeneTreei ENSGT00510000046311.
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

Bgeei O14520.
CleanExi HS_AQP7.
HS_AQP9.
ExpressionAtlasi O14520. baseline.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 117 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