O43315 (AQP9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Aquaporin-9
Short name=AQP-9

Alternative name(s):
Aquaglyceroporin-9
Small solute channel 1

Gene names

Name:	AQP9
Synonyms:	SSC1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	295 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Transport
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Repeat Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	canalicular bile acid transport Inferred from electronic annotation. Source: Compara cellular response to cAMP Inferred from expression pattern PubMed 17636236. Source: UniProtKB excretion Traceable author statement PubMed 9733774. Source: UniProtKB immune response Traceable author statement Ref.1. Source: ProtInc metabolic process Traceable author statement PubMed 9733774. Source: UniProtKB response to mercury ion Inferred from direct assay PubMed 9733774. Source: UniProtKB response to osmotic stress Traceable author statement PubMed 9733774. Source: UniProtKB water homeostasis Non-traceable author statement PubMed 9733774. Source: UniProtKB
Cellular_component	basolateral plasma membrane Inferred from electronic annotation. Source: Compara integral to plasma membrane Traceable author statement Ref.1. Source: ProtInc intracellular membrane-bounded organelle Inferred from direct assay PubMed 18718702. Source: UniProtKB
Molecular_function	amine 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 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
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 295	295	Aquaporin-9		PRO_0000063964
Regions
	Topological domain	1 – 29	29	Cytoplasmic Potential
	Transmembrane	30 – 50	21	Helical; Potential
	Topological domain	51 – 54	4	Extracellular Potential
	Transmembrane	55 – 75	21	Helical; Potential
	Topological domain	76 – 110	35	Cytoplasmic Potential
	Transmembrane	111 – 131	21	Helical; Potential
	Topological domain	132 – 158	27	Extracellular Potential
	Transmembrane	159 – 179	21	Helical; Potential
	Topological domain	180 – 189	10	Cytoplasmic Potential
	Transmembrane	190 – 210	21	Helical; Potential
	Topological domain	211 – 245	35	Extracellular Potential
	Transmembrane	246 – 266	21	Helical; Potential
	Topological domain	267 – 295	29	Cytoplasmic Potential
	Motif	84 – 86	3	NPA 1
	Motif	216 – 218	3	NPA 2
Natural variations
	Natural variant	279	1	T → A. Ref.1 Ref.2 Ref.4 Corresponds to variant rs1867380 [ dbSNP | Ensembl ].		VAR_024538

Sequences

	Sequence		Length	Mass (Da)
	O43315 [UniParc]. Last modified January 11, 2011. Version 2. Checksum: B3B416CD9F1F9CAF	FASTA	295	31,431
	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

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00011954.
PIR	JC5973.
RefSeq	NP_066190.2. NM_020980.3.
UniGene	Hs.104624.
3D structure databases
ProteinModelPortal	O43315.
SMR	O43315. Positions 21-269.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000219919.
PTM databases
PhosphoSite	O43315.
Proteomic databases
PaxDb	O43315.
PRIDE	O43315.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000219919; ENSP00000219919; ENSG00000103569. ENST00000536493; ENSP00000441390; ENSG00000103569.
GeneID	366.
KEGG	hsa:366.
UCSC	uc002aez.2. human.
Organism-specific databases
CTD	366.
GeneCards	GC15P058430.
H-InvDB	HIX0012281.
HGNC	HGNC:643. AQP9.
MIM	602914. gene+phenotype.
neXtProt	NX_O43315.
PharmGKB	PA24927.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0580.
HOGENOM	HOG000288287.
HOVERGEN	HBG106057.
InParanoid	O43315.
KO	K09877.
OMA	ATMILLI.
OrthoDB	EOG4VX25Z.
PhylomeDB	O43315.
Enzyme and pathway databases
Reactome	REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	O43315.
Bgee	O43315.
CleanEx	HS_AQP9.
Genevestigator	O43315.
Family and domain databases
Gene3D	1.20.1080.10. 1 hit.
InterPro	IPR023271. Aquaporin-like. IPR015685. Aquaporin_9. IPR000425. MIP. IPR022357. MIP_CS. [Graphical view]
PANTHER	PTHR19139. PTHR19139. 1 hit. PTHR19139:SF15. PTHR19139:SF15. 1 hit.
Pfam	PF00230. MIP. 1 hit. [Graphical view]
PRINTS	PR02021. AQUAPORIN9. PR00783. MINTRINSICP.
SUPFAM	SSF81338. MIP. 1 hit.
TIGRFAMs	TIGR00861. MIP. 1 hit.
PROSITE	PS00221. MIP. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	366.
NextBio	1527.
SOURCE	Search...

Entry information

Entry name

AQP9_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 115 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.