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O14520 (AQP7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 111. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Aquaporin-7

Short name=AQP-7
Alternative name(s):
Aquaglyceroporin-7
Aquaporin adipose
Short name=AQPap
Aquaporin-7-like
Gene names
Name:AQP7
Synonyms:AQP7L, AQP9
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length342 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Forms a channel for water and glycerol.

Subcellular location

Membrane; Multi-pass membrane protein.

Domain

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).

Polymorphism

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

Sequence similarities

Belongs to the MIP/aquaporin (TC 1.A.8) family. [View classification]

Ontologies

Keywords
   Biological processTransport
   Cellular componentMembrane
   Coding sequence diversityPolymorphism
   DomainRepeat
Transmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processexcretion

Traceable author statement Ref.1. Source: ProtInc

generation of precursor metabolites and energy

Traceable author statement Ref.1. Source: ProtInc

glycerol transport

Traceable author statement. Source: Reactome

renal water absorption

Inferred from electronic annotation. Source: Ensembl

response to drug

Inferred from electronic annotation. Source: Ensembl

spermatogenesis

Inferred from electronic annotation. Source: Ensembl

transmembrane transport

Traceable author statement. Source: Reactome

water transport

Traceable author statement. Source: Reactome

   Cellular_componentbrush border membrane

Inferred from electronic annotation. Source: Ensembl

cell-cell junction

Inferred from direct assay PubMed 18718702. Source: UniProtKB

cytoplasm

Inferred from direct assay PubMed 18718702. Source: UniProtKB

integral component of plasma membrane

Traceable author statement Ref.1. Source: ProtInc

plasma membrane

Inferred from direct assay PubMed 18718702. Source: UniProtKB

ribonucleoprotein complex

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionglycerol channel activity

Inferred from experiment. Source: Reactome

urea channel activity

Inferred from electronic annotation. Source: Ensembl

water channel activity

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 342342Aquaporin-7
PRO_0000063958

Regions

Topological domain1 – 3636Cytoplasmic Potential
Transmembrane37 – 5721Helical; Potential
Topological domain58 – 658Extracellular Potential
Transmembrane66 – 8621Helical; Potential
Topological domain87 – 11327Cytoplasmic Potential
Transmembrane114 – 13421Helical; Potential
Topological domain135 – 17036Extracellular Potential
Transmembrane171 – 19121Helical; Potential
Topological domain192 – 1965Cytoplasmic Potential
Transmembrane197 – 21721Helical; Potential
Topological domain218 – 25538Extracellular Potential
Transmembrane256 – 27621Helical; Potential
Topological domain277 – 34266Cytoplasmic Potential
Motif94 – 963NPA 1
Motif226 – 2283NPA 2

Natural variations

Natural variant121R → C. Ref.2
Corresponds to variant rs139297434 [ dbSNP | Ensembl ].
VAR_067253
Natural variant381L → V.
Corresponds to variant rs2381003 [ dbSNP | Ensembl ].
VAR_061343
Natural variant591V → L. Ref.2
Corresponds to variant rs4008659 [ dbSNP | Ensembl ].
VAR_067254
Natural variant631K → T.
Corresponds to variant rs4008658 [ dbSNP | Ensembl ].
VAR_061344
Natural variant2641G → V Polymorphism that affects water and glycerol transport. Ref.2 Ref.4
Corresponds to variant rs62542743 [ dbSNP | Ensembl ].
VAR_067255

Sequences

Sequence LengthMass (Da)Tools
O14520 [UniParc].

Last modified January 1, 1998. Version 1.
Checksum: 8A05F92B977D2F93

FASTA34237,232
        10         20         30         40         50         60 
MVQASGHRRS TRGSKMVSWS VIAKIQEILQ RKMVREFLAE FMSTYVMMVF GLGSVAHMVL 

        70         80         90        100        110        120 
NKKYGSYLGV NLGFGFGVTM GVHVAGRISG AHMNAAVTFA NCALGRVPWR KFPVYVLGQF 

       130        140        150        160        170        180 
LGSFLAAATI YSLFYTAILH FSGGQLMVTG PVATAGIFAT YLPDHMTLWR GFLNEAWLTG 

       190        200        210        220        230        240 
MLQLCLFAIT DQENNPALPG TEALVIGILV VIIGVSLGMN TGYAINPSRD LPPRIFTFIA 

       250        260        270        280        290        300 
GWGKQVFSNG ENWWWVPVVA PLLGAYLGGI IYLVFIGSTI PREPLKLEDS VAYEDHGITV 

       310        320        330        340 
LPKMGSHEPT ISPLTPVSVS PANRSSVHPA PPLHESMALE HF 

« Hide

References

« Hide 'large scale' references
[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]"Human aquaporin adipose (AQPap) gene. Genomic structure, promoter analysis and functional mutation."
Kondo H., Shimomura I., Kishida K., Kuriyama H., Makino Y., Nishizawa H., Matsuda M., Maeda N., Nagaretani H., Kihara S., Kurachi Y., Nakamura T., Funahashi T., Matsuzawa Y.
Eur. J. Biochem. 269:1814-1826(2002) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB006190 mRNA. Translation: BAA21745.1.
AB052626 Genomic DNA. Translation: BAC05693.1.
AL356218 Genomic DNA. Translation: CAI13309.1.
PIRJC5791.
RefSeqNP_001161.1. NM_001170.1.
XP_005251510.1. XM_005251453.1.
UniGeneHs.455323.

3D structure databases

ProteinModelPortalO14520.
SMRO14520. Positions 38-277.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000297988.

Chemistry

GuidetoPHARMACOLOGY694.

Proteomic databases

PRIDEO14520.

Protocols and materials databases

DNASU364.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000297988; ENSP00000297988; ENSG00000165269.
GeneID364.
KEGGhsa:364.
UCSCuc003zst.3. human.

Organism-specific databases

CTD364.
GeneCardsGC09M033384.
H-InvDBHIX0008072.
HIX0034850.
HIX0034865.
HGNCHGNC:640. AQP7.
HPAHPA044049.
HPA048106.
MIM602974. gene.
614411. phenotype.
neXtProtNX_O14520.
PharmGKBPA24925.
GenAtlasSearch...

Phylogenomic databases

HOVERGENHBG106057.
InParanoidO14520.
KOK08771.
OMAMTAFWGE.
TreeFamTF313173.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressO14520.
BgeeO14520.
CleanExHS_AQP7.
HS_AQP9.
GenevestigatorO14520.

Family and domain databases

Gene3D1.20.1080.10. 1 hit.
InterProIPR023271. Aquaporin-like.
IPR015686. Aquaporin_7.
IPR000425. MIP.
[Graphical view]
PANTHERPTHR19139. PTHR19139. 1 hit.
PTHR19139:SF16. PTHR19139:SF16. 1 hit.
PfamPF00230. MIP. 1 hit.
[Graphical view]
PRINTSPR00783. MINTRINSICP.
SUPFAMSSF81338. SSF81338. 1 hit.
TIGRFAMsTIGR00861. MIP. 1 hit.
ProtoNetSearch...

Other

GeneWikiAQP7.
GenomeRNAi364.
NextBio1523.
PROO14520.
SOURCESearch...

Entry information

Entry nameAQP7_HUMAN
AccessionPrimary (citable) accession number: O14520
Secondary accession number(s): Q5T5L9, Q8NHM3
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 1, 1998
Last modified: April 16, 2014
This is version 111 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM