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O43315 (AQP9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 124. 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-9

Short name=AQP-9
Alternative name(s):
Aquaglyceroporin-9
Small solute channel 1
Gene names
Name:AQP9
Synonyms:SSC1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length295 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Forms a channel with a broad specificity. Mediates passage of a wide variety of non-charged solutes including carbamides, polyols, purines, and pyrimidines in a phloretin- and mercury-sensitive manner, whereas amino acids, cyclic sugars, Na+, K+, Cl-, and deprotonated monocarboxylates are excluded. Also permeable to urea and glycerol. Ref.2

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

Highly expressed in peripheral leukocytes. Also expressed in liver, lung, and spleen.

Domain

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 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_processamine transport

Inferred from direct assay PubMed 9733774. Source: UniProtKB

canalicular bile acid transport

Inferred from electronic annotation. Source: Ensembl

carboxylic acid transport

Traceable author statement PubMed 9733774. Source: UniProtKB

cellular response to cAMP

Inferred from expression pattern PubMed 17636236. Source: UniProtKB

excretion

Traceable author statement PubMed 9733774. Source: UniProtKB

glycerol transport

Traceable author statement. Source: Reactome

immune response

Traceable author statement Ref.1. Source: ProtInc

metabolic process

Traceable author statement PubMed 9733774. Source: UniProtKB

polyol transport

Inferred from direct assay PubMed 9733774. Source: UniProtKB

purine nucleobase transport

Inferred from direct assay PubMed 9733774. Source: UniProtKB

pyrimidine nucleobase transport

Inferred from direct assay PubMed 9733774. Source: UniProtKB

pyrimidine-containing compound transmembrane transport

Inferred from direct assay PubMed 9733774. Source: GOC

response to mercury ion

Inferred from direct assay PubMed 9733774. Source: UniProtKB

response to organic substance

Inferred from direct assay PubMed 9733774. Source: UniProtKB

response to osmotic stress

Traceable author statement PubMed 9733774. Source: UniProtKB

transmembrane transport

Traceable author statement. Source: Reactome

transport

Traceable author statement PubMed 9733774. Source: UniProtKB

water homeostasis

Non-traceable author statement PubMed 9733774. Source: UniProtKB

water transport

Inferred from direct assay PubMed 9733774. Source: UniProtKB

   Cellular_componentbasolateral plasma membrane

Inferred from electronic annotation. Source: Ensembl

integral component of membrane

Non-traceable author statement PubMed 9733774. Source: UniProtKB

integral component of plasma membrane

Traceable author statement Ref.1. Source: ProtInc

intracellular membrane-bounded organelle

Inferred from direct assay PubMed 18718702. Source: UniProtKB

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionamine transmembrane transporter activity

Traceable author statement PubMed 9733774. Source: UniProtKB

carboxylic acid transmembrane transporter activity

Traceable author statement PubMed 9733774. Source: UniProtKB

glycerol channel activity

Inferred from experiment. Source: Reactome

polyol transmembrane transporter activity

Traceable author statement PubMed 9733774. Source: UniProtKB

porin activity

Non-traceable author statement PubMed 9733774. Source: UniProtKB

purine nucleobase transmembrane transporter activity

Inferred from direct assay PubMed 9733774. Source: UniProtKB

pyrimidine nucleobase transmembrane transporter activity

Inferred from direct assay PubMed 9733774. Source: UniProtKB

water channel activity

Inferred from direct assay PubMed 9733774. Source: UniProtKB

water transmembrane transporter activity

Traceable author statement PubMed 9733774. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 295295Aquaporin-9
PRO_0000063964

Regions

Topological domain1 – 2929Cytoplasmic Potential
Transmembrane30 – 5021Helical; Potential
Topological domain51 – 544Extracellular Potential
Transmembrane55 – 7521Helical; Potential
Topological domain76 – 11035Cytoplasmic Potential
Transmembrane111 – 13121Helical; Potential
Topological domain132 – 15827Extracellular Potential
Transmembrane159 – 17921Helical; Potential
Topological domain180 – 18910Cytoplasmic Potential
Transmembrane190 – 21021Helical; Potential
Topological domain211 – 24535Extracellular Potential
Transmembrane246 – 26621Helical; Potential
Topological domain267 – 29529Cytoplasmic Potential
Motif84 – 863NPA 1
Motif216 – 2183NPA 2

Natural variations

Natural variant2791T → A. Ref.1 Ref.2 Ref.4
Corresponds to variant rs1867380 [ dbSNP | Ensembl ].
VAR_024538

Sequences

Sequence LengthMass (Da)Tools
O43315 [UniParc].

Last modified January 11, 2011. Version 2.
Checksum: B3B416CD9F1F9CAF

FASTA29531,431
        10         20         30         40         50         60 
MQPEGAEKGK SFKQRLVLKS SLAKETLSEF LGTFILIVLG CGCVAQAILS RGRFGGVITI 

        70         80         90        100        110        120 
NVGFSMAVAM AIYVAGGVSG GHINPAVSLA MCLFGRMKWF KLPFYVGAQF LGAFVGAATV 

       130        140        150        160        170        180 
FGIYYDGLMS FAGGKLLIVG ENATAHIFAT YPAPYLSLAN AFADQVVATM ILLIIVFAIF 

       190        200        210        220        230        240 
DSRNLGAPRG LEPIAIGLLI IVIASSLGLN SGCAMNPARD LSPRLFTALA GWGFEVFRAG 

       250        260        270        280        290 
NNFWWIPVVG PLVGAVIGGL IYVLVIEIHH PEPDSVFKTE QSEDKPEKYE LSVIM 

« Hide

References

« Hide 'large scale' references
[1]"Cloning and functional expression of a new aquaporin (AQP9) abundantly expressed in the peripheral leukocytes permeable to water and urea, but not to glycerol."
Ishibashi K., Kuwahara M., Gu Y., Tanaka Y., Marumo F., Sasaki S.
Biochem. Biophys. Res. Commun. 244:268-274(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ALA-279.
Tissue: Liver.
[2]"Functional and molecular characterization of the human neutral solute channel aquaporin-9."
Tsukaguchi H., Weremowicz S., Morton C.C., Hediger M.A.
Am. J. Physiol. 277:F685-F696(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, VARIANT ALA-279.
[3]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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], VARIANT ALA-279.
Tissue: Liver.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB008775 mRNA. Translation: BAA24864.1.
AF016495 mRNA. Translation: AAF16677.1.
AF102870 Genomic DNA. Translation: AAF27983.1.
AC025431 Genomic DNA. No translation available.
AC066616 Genomic DNA. No translation available.
BC026258 mRNA. Translation: AAH26258.1.
CCDSCCDS10165.1.
PIRJC5973.
RefSeqNP_066190.2. NM_020980.3.
UniGeneHs.104624.

3D structure databases

ProteinModelPortalO43315.
SMRO43315. Positions 21-269.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid106861. 1 interaction.
STRING9606.ENSP00000219919.

Chemistry

GuidetoPHARMACOLOGY696.

PTM databases

PhosphoSiteO43315.

Proteomic databases

PaxDbO43315.
PRIDEO43315.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000219919; ENSP00000219919; ENSG00000103569.
ENST00000536493; ENSP00000441390; ENSG00000103569.
GeneID366.
KEGGhsa:366.
UCSCuc002aez.2. human.

Organism-specific databases

CTD366.
GeneCardsGC15P058430.
H-InvDBHIX0012281.
HGNCHGNC:643. AQP9.
MIM602914. gene+phenotype.
neXtProtNX_O43315.
PharmGKBPA24927.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0580.
HOGENOMHOG000288287.
HOVERGENHBG106057.
InParanoidO43315.
KOK09877.
OMAMIGENSF.
PhylomeDBO43315.
TreeFamTF313173.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressO43315.
BgeeO43315.
CleanExHS_AQP9.
GenevestigatorO43315.

Family and domain databases

Gene3D1.20.1080.10. 1 hit.
InterProIPR023271. Aquaporin-like.
IPR015685. Aquaporin_9.
IPR000425. MIP.
IPR022357. MIP_CS.
[Graphical view]
PANTHERPTHR19139. PTHR19139. 1 hit.
PTHR19139:SF15. PTHR19139:SF15. 1 hit.
PfamPF00230. MIP. 1 hit.
[Graphical view]
PRINTSPR02021. AQUAPORIN9.
PR00783. MINTRINSICP.
SUPFAMSSF81338. SSF81338. 1 hit.
TIGRFAMsTIGR00861. MIP. 1 hit.
PROSITEPS00221. MIP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiAQP9.
GenomeRNAi366.
NextBio1527.
PROO43315.
SOURCESearch...

Entry information

Entry nameAQP9_HUMAN
AccessionPrimary (citable) accession number: O43315
Secondary accession number(s): Q9NP32
Entry history
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: January 11, 2011
Last modified: July 9, 2014
This is version 124 of the entry and version 2 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 15

Human chromosome 15: entries, gene names and cross-references to MIM