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Aquaporin-9 (AQP-9) (Aquaglyceroporin-9) (Small solute channel 1)

 AQP9_HUMAN              Reviewed;         295 AA.
O43315; Q9NP32;
15-DEC-1998, integrated into UniProtKB/Swiss-Prot.
11-JAN-2011, sequence version 2.
22-NOV-2017, entry version 151.
RecName: Full=Aquaporin-9;
Short=AQP-9;
AltName: Full=Aquaglyceroporin-9;
AltName: Full=Small solute channel 1;
Name=AQP9; Synonyms=SSC1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT ALA-279.
TISSUE=Liver;
PubMed=9514918; DOI=10.1006/bbrc.1998.8252;
Ishibashi K., Kuwahara M., Gu Y., Tanaka Y., Marumo F., Sasaki S.;
"Cloning and functional expression of a new aquaporin (AQP9)
abundantly expressed in the peripheral leukocytes permeable to water
and urea, but not to glycerol.";
Biochem. Biophys. Res. Commun. 244:268-274(1998).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, AND VARIANT ALA-279.
PubMed=10564231;
Tsukaguchi H., Weremowicz S., Morton C.C., Hediger M.A.;
"Functional and molecular characterization of the human neutral solute
channel aquaporin-9.";
Am. J. Physiol. 277:F685-F696(1999).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16572171; DOI=10.1038/nature04601;
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.;
"Analysis of the DNA sequence and duplication history of human
chromosome 15.";
Nature 440:671-675(2006).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ALA-279.
TISSUE=Liver;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
-!- 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.
{ECO:0000269|PubMed:10564231}.
-!- 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).
-!- SIMILARITY: Belongs to the MIP/aquaporin (TC 1.A.8) family.
{ECO:0000305}.
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EMBL; AB008775; BAA24864.1; -; mRNA.
EMBL; AF016495; AAF16677.1; -; mRNA.
EMBL; AF102870; AAF27983.1; -; Genomic_DNA.
EMBL; AC025431; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC066616; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC026258; AAH26258.1; -; mRNA.
CCDS; CCDS10165.1; -.
PIR; JC5973; JC5973.
RefSeq; NP_066190.2; NM_020980.4.
UniGene; Hs.104624; -.
ProteinModelPortal; O43315; -.
SMR; O43315; -.
BioGrid; 106861; 3.
STRING; 9606.ENSP00000219919; -.
TCDB; 1.A.8.9.14; the major intrinsic protein (mip) family.
iPTMnet; O43315; -.
PhosphoSitePlus; O43315; -.
BioMuta; AQP9; -.
EPD; O43315; -.
PaxDb; O43315; -.
PeptideAtlas; O43315; -.
PRIDE; O43315; -.
Ensembl; ENST00000219919; ENSP00000219919; ENSG00000103569.
Ensembl; ENST00000536493; ENSP00000441390; ENSG00000103569.
GeneID; 366; -.
KEGG; hsa:366; -.
UCSC; uc002aez.3; human.
CTD; 366; -.
DisGeNET; 366; -.
EuPathDB; HostDB:ENSG00000103569.9; -.
GeneCards; AQP9; -.
H-InvDB; HIX0012281; -.
HGNC; HGNC:643; AQP9.
MIM; 602914; gene+phenotype.
neXtProt; NX_O43315; -.
OpenTargets; ENSG00000103569; -.
PharmGKB; PA24927; -.
eggNOG; KOG0224; Eukaryota.
eggNOG; COG0580; LUCA.
GeneTree; ENSGT00510000046311; -.
HOGENOM; HOG000288287; -.
HOVERGEN; HBG106057; -.
InParanoid; O43315; -.
KO; K09877; -.
OMA; QVVATMF; -.
OrthoDB; EOG091G0FMS; -.
PhylomeDB; O43315; -.
TreeFam; TF313173; -.
Reactome; R-HSA-432030; Transport of glycerol from adipocytes to the liver by Aquaporins.
Reactome; R-HSA-432047; Passive transport by Aquaporins.
SIGNOR; O43315; -.
GeneWiki; AQP9; -.
GenomeRNAi; 366; -.
PRO; PR:O43315; -.
Proteomes; UP000005640; Chromosome 15.
Bgee; ENSG00000103569; -.
CleanEx; HS_AQP9; -.
ExpressionAtlas; O43315; baseline and differential.
Genevisible; O43315; HS.
GO; GO:0016323; C:basolateral plasma membrane; IEA:Ensembl.
GO; GO:0016021; C:integral component of membrane; NAS:UniProtKB.
GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:UniProtKB.
GO; GO:0005886; C:plasma membrane; TAS:Reactome.
GO; GO:0005275; F:amine transmembrane transporter activity; TAS:UniProtKB.
GO; GO:0046943; F:carboxylic acid transmembrane transporter activity; TAS:UniProtKB.
GO; GO:0015254; F:glycerol channel activity; EXP:Reactome.
GO; GO:0015166; F:polyol transmembrane transporter activity; TAS:UniProtKB.
GO; GO:0015288; F:porin activity; NAS:UniProtKB.
GO; GO:0005345; F:purine nucleobase transmembrane transporter activity; IDA:UniProtKB.
GO; GO:0005350; F:pyrimidine nucleobase transmembrane transporter activity; IDA:UniProtKB.
GO; GO:0015265; F:urea channel activity; EXP:Reactome.
GO; GO:0015250; F:water channel activity; IDA:UniProtKB.
GO; GO:0005372; F:water transmembrane transporter activity; TAS:UniProtKB.
GO; GO:0015837; P:amine transport; IDA:UniProtKB.
GO; GO:0015722; P:canalicular bile acid transport; IEA:Ensembl.
GO; GO:0046942; P:carboxylic acid transport; TAS:UniProtKB.
GO; GO:0071320; P:cellular response to cAMP; IEP:UniProtKB.
GO; GO:0007588; P:excretion; TAS:UniProtKB.
GO; GO:0015793; P:glycerol transport; TAS:Reactome.
GO; GO:0006955; P:immune response; TAS:ProtInc.
GO; GO:0008152; P:metabolic process; TAS:UniProtKB.
GO; GO:0015791; P:polyol transport; IDA:UniProtKB.
GO; GO:0006863; P:purine nucleobase transport; IDA:UniProtKB.
GO; GO:0015855; P:pyrimidine nucleobase transport; IDA:UniProtKB.
GO; GO:0046689; P:response to mercury ion; IDA:UniProtKB.
GO; GO:0010033; P:response to organic substance; IDA:UniProtKB.
GO; GO:0006970; P:response to osmotic stress; TAS:UniProtKB.
GO; GO:0006810; P:transport; TAS:UniProtKB.
GO; GO:0030104; P:water homeostasis; NAS:UniProtKB.
GO; GO:0006833; P:water transport; IDA:UniProtKB.
CDD; cd00333; MIP; 1.
Gene3D; 1.20.1080.10; -; 1.
InterPro; IPR023271; Aquaporin-like.
InterPro; IPR015685; Aquaporin_9.
InterPro; IPR000425; MIP.
InterPro; IPR022357; MIP_CS.
PANTHER; PTHR43829:SF6; PTHR43829:SF6; 1.
Pfam; PF00230; MIP; 1.
PRINTS; PR02021; AQUAPORIN9.
PRINTS; PR00783; MINTRINSICP.
SUPFAM; SSF81338; SSF81338; 1.
TIGRFAMs; TIGR00861; MIP; 1.
PROSITE; PS00221; MIP; 1.
2: Evidence at transcript level;
Complete proteome; Membrane; Polymorphism; Reference proteome; Repeat;
Transmembrane; Transmembrane helix; Transport.
CHAIN 1 295 Aquaporin-9.
/FTId=PRO_0000063964.
TOPO_DOM 1 29 Cytoplasmic. {ECO:0000255}.
TRANSMEM 30 50 Helical. {ECO:0000255}.
TOPO_DOM 51 54 Extracellular. {ECO:0000255}.
TRANSMEM 55 75 Helical. {ECO:0000255}.
TOPO_DOM 76 110 Cytoplasmic. {ECO:0000255}.
TRANSMEM 111 131 Helical. {ECO:0000255}.
TOPO_DOM 132 158 Extracellular. {ECO:0000255}.
TRANSMEM 159 179 Helical. {ECO:0000255}.
TOPO_DOM 180 189 Cytoplasmic. {ECO:0000255}.
TRANSMEM 190 210 Helical. {ECO:0000255}.
TOPO_DOM 211 245 Extracellular. {ECO:0000255}.
TRANSMEM 246 266 Helical. {ECO:0000255}.
TOPO_DOM 267 295 Cytoplasmic. {ECO:0000255}.
MOTIF 84 86 NPA 1.
MOTIF 216 218 NPA 2.
VARIANT 279 279 T -> A (in dbSNP:rs1867380).
{ECO:0000269|PubMed:10564231,
ECO:0000269|PubMed:15489334,
ECO:0000269|PubMed:9514918}.
/FTId=VAR_024538.
SEQUENCE 295 AA; 31431 MW; B3B416CD9F1F9CAF CRC64;
MQPEGAEKGK SFKQRLVLKS SLAKETLSEF LGTFILIVLG CGCVAQAILS RGRFGGVITI
NVGFSMAVAM AIYVAGGVSG GHINPAVSLA MCLFGRMKWF KLPFYVGAQF LGAFVGAATV
FGIYYDGLMS FAGGKLLIVG ENATAHIFAT YPAPYLSLAN AFADQVVATM ILLIIVFAIF
DSRNLGAPRG LEPIAIGLLI IVIASSLGLN SGCAMNPARD LSPRLFTALA GWGFEVFRAG
NNFWWIPVVG PLVGAVIGGL IYVLVIEIHH PEPDSVFKTE QSEDKPEKYE LSVIM


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