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O14520

- AQP7_HUMAN

UniProt

O14520 - AQP7_HUMAN

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Protein
Aquaporin-7
Gene
AQP7, AQP7L, AQP9
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. 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
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 – 3636Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei37 – 5721Helical; Reviewed prediction
Add
BLAST
Topological domaini58 – 658Extracellular Reviewed prediction
Transmembranei66 – 8621Helical; Reviewed prediction
Add
BLAST
Topological domaini87 – 11327Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei114 – 13421Helical; Reviewed prediction
Add
BLAST
Topological domaini135 – 17036Extracellular Reviewed prediction
Add
BLAST
Transmembranei171 – 19121Helical; Reviewed prediction
Add
BLAST
Topological domaini192 – 1965Cytoplasmic Reviewed prediction
Transmembranei197 – 21721Helical; Reviewed prediction
Add
BLAST
Topological domaini218 – 25538Extracellular Reviewed prediction
Add
BLAST
Transmembranei256 – 27621Helical; Reviewed prediction
Add
BLAST
Topological domaini277 – 34266Cytoplasmic Reviewed prediction
Add
BLAST

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
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-7
PRO_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.

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.

Sequencei

Sequence statusi: Complete.

O14520-1 [UniParc]FASTAAdd to Basket

« 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

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

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB006190 mRNA. Translation: BAA21745.1.
AB052626 Genomic DNA. Translation: BAC05693.1.
AL356218 Genomic DNA. Translation: CAI13309.1.
CCDSiCCDS6541.1.
PIRiJC5791.
RefSeqiNP_001161.1. NM_001170.1.
XP_005251510.1. XM_005251453.1.
UniGeneiHs.455323.

Genome annotation databases

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

Keywords - Coding sequence diversityi

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 .
AL356218 Genomic DNA. Translation: CAI13309.1 .
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 .
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

« 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].
    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. "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].
  4. "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): Q5T5L9, Q8NHM3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 1, 1998
Last modified: September 3, 2014
This is version 114 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

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