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Q9NRM0 (GTR9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 115. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Solute carrier family 2, facilitated glucose transporter member 9
Alternative name(s):
Glucose transporter type 9
Short name=GLUT-9
Gene names
Name:SLC2A9
Synonyms:GLUT9
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length540 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Transport urate and fructose. May have a role in the urate reabsorption by proximal tubules. Also transports glucose at low rate. Ref.5 Ref.7

Subcellular location

Membrane; Multi-pass membrane protein Ref.5.

Tissue specificity

Most strongly expressed in basolateral membranes of proximal renal tubular cells, liver and placenta. Also detected in lung, blood leukocytes, heart skeletal muscle and chondrocytes from articular cartilage. Isoform 2 is only detected in the apical membranes of polarized renal tubular cells and placenta. Isoform 1 and isoform 2 are detected in kidney membrane (at protein level). Ref.4 Ref.5

Polymorphism

Genetic variations in SLC2A9 influence the variance in serum uric acid concentrations and define the serum uric acid concentration quantitative trait locus 2 (UAQTL2) [MIM:612076]. Excess serum accumulation of uric acid can lead to the development of gout.

Involvement in disease

Hypouricemia renal 2 (RHUC2) [MIM:612076]: A disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Patients often appear asymptomatic, but may be subject to exercise-induced acute renal failure, chronic renal dysfunction and nephrolithiasis.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8 Ref.10 Ref.11

Sequence similarities

Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. [View classification]

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NRM0-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9NRM0-2)

Also known as: GLUT9deltaN;

The sequence of this isoform differs from the canonical sequence as follows:
     1-50: MARKQNRNSKELGLVPLTDDTSHAGPPGPGRALLECDHLRSGVPGGRRRK → MKLSKKDRGEDEESDSAKKKL

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 540540Solute carrier family 2, facilitated glucose transporter member 9
PRO_0000050378

Regions

Topological domain1 – 5151Cytoplasmic Potential
Transmembrane52 – 7221Helical; Name=1; Potential
Topological domain73 – 10735Extracellular Potential
Transmembrane108 – 12821Helical; Name=2; Potential
Topological domain129 – 14012Cytoplasmic Potential
Transmembrane141 – 16121Helical; Name=3; Potential
Topological domain162 – 17110Extracellular Potential
Transmembrane172 – 19221Helical; Name=4; Potential
Topological domain193 – 2008Cytoplasmic Potential
Transmembrane201 – 22121Helical; Name=5; Potential
Topological domain222 – 23110Extracellular Potential
Transmembrane232 – 25221Helical; Name=6; Potential
Topological domain253 – 31664Cytoplasmic Potential
Transmembrane317 – 33721Helical; Name=7; Potential
Topological domain338 – 35417Extracellular Potential
Transmembrane355 – 37521Helical; Name=8; Potential
Topological domain376 – 3816Cytoplasmic Potential
Transmembrane382 – 40221Helical; Name=9; Potential
Topological domain403 – 41513Extracellular Potential
Transmembrane416 – 43621Helical; Name=10; Potential
Topological domain437 – 45115Cytoplasmic Potential
Transmembrane452 – 47221Helical; Name=11; Potential
Topological domain473 – 4786Extracellular Potential
Transmembrane479 – 49921Helical; Name=12; Potential
Topological domain500 – 54041Cytoplasmic Potential

Amino acid modifications

Glycosylation901N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 5050MARKQ…GRRRK → MKLSKKDRGEDEESDSAKKK L in isoform 2.
VSP_034860
Natural variant221S → N. Ref.7
VAR_045648
Natural variant251G → R. Ref.1 Ref.3
Corresponds to variant rs2276961 [ dbSNP | Ensembl ].
VAR_012157
Natural variant751L → R in RHUC2; reduced urate transport activity. Ref.10
VAR_065772
Natural variant1251T → M in RHUC2; markedly reduced urate transport activity. Ref.11
Corresponds to variant rs181509591 [ dbSNP | Ensembl ].
VAR_065773
Natural variant1711R → C in RHUC2; markedly reduced urate transport activity. Ref.11
VAR_065774
Natural variant1911E → D. Ref.6
VAR_045649
Natural variant1981R → C in RHUC2; markedly reduced urate transport activity. Ref.8
VAR_065775
Natural variant2161G → R. Ref.7
VAR_045650
Natural variant2751T → M. Ref.7
Corresponds to variant rs112404957 [ dbSNP | Ensembl ].
VAR_045651
Natural variant2811D → H. Ref.6 Ref.7
Corresponds to variant rs73225891 [ dbSNP | Ensembl ].
VAR_045652
Natural variant2821V → I. Ref.6
Corresponds to variant rs16890979 [ dbSNP | Ensembl ].
VAR_012158
Natural variant2941R → H.
Corresponds to variant rs3733591 [ dbSNP | Ensembl ].
VAR_020337
Natural variant3001R → H. Ref.7
Corresponds to variant rs145688560 [ dbSNP | Ensembl ].
VAR_045653
Natural variant3501P → L. Ref.1 Ref.3 Ref.6
Corresponds to variant rs2280205 [ dbSNP | Ensembl ].
VAR_012159
Natural variant3801R → W in RHUC2; markedly reduced urate transport activity. Ref.8
VAR_065776
Isoform 2:
Natural variant171A → T in dbSNP:6820230.

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 13, 2010. Version 2.
Checksum: EEA40123DB5233B4

FASTA54058,702
        10         20         30         40         50         60 
MARKQNRNSK ELGLVPLTDD TSHAGPPGPG RALLECDHLR SGVPGGRRRK DWSCSLLVAS 

        70         80         90        100        110        120 
LAGAFGSSFL YGYNLSVVNA PTPYIKAFYN ESWERRHGRP IDPDTLTLLW SVTVSIFAIG 

       130        140        150        160        170        180 
GLVGTLIVKM IGKVLGRKHT LLANNGFAIS AALLMACSLQ AGAFEMLIVG RFIMGIDGGV 

       190        200        210        220        230        240 
ALSVLPMYLS EISPKEIRGS LGQVTAIFIC IGVFTGQLLG LPELLGKEST WPYLFGVIVV 

       250        260        270        280        290        300 
PAVVQLLSLP FLPDSPRYLL LEKHNEARAV KAFQTFLGKA DVSQEVEEVL AESRVQRSIR 

       310        320        330        340        350        360 
LVSVLELLRA PYVRWQVVTV IVTMACYQLC GLNAIWFYTN SIFGKAGIPP AKIPYVTLST 

       370        380        390        400        410        420 
GGIETLAAVF SGLVIEHLGR RPLLIGGFGL MGLFFGTLTI TLTLQDHAPW VPYLSIVGIL 

       430        440        450        460        470        480 
AIIASFCSGP GGIPFILTGE FFQQSQRPAA FIIAGTVNWL SNFAVGLLFP FIQKSLDTYC 

       490        500        510        520        530        540 
FLVFATICIT GAIYLYFVLP ETKNRTYAEI SQAFSKRNKA YPPEEKIDSA VTDGKINGRP 

« Hide

Isoform 2 (GLUT9deltaN) [UniParc].

Checksum: CF8BD02FCBB0BC42
Show »

FASTA51155,721

References

« Hide 'large scale' references
[1]"Cloning and expression analysis of a novel member of the facilitative glucose transporter family, SLC2A9 (GLUT9)."
Phay J.E., Hussain H.B., Moley J.F.
Genomics 66:217-220(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ARG-25 AND LEU-350.
Tissue: Kidney.
[2]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"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] (ISOFORMS 1 AND 2), VARIANTS ARG-25 AND LEU-350.
Tissue: Lung and Ovary.
[4]"Human articular chondrocytes express three facilitative glucose transporter isoforms: GLUT1, GLUT3 and GLUT9."
Mobasheri A., Neama G., Bell S., Richardson S., Carter S.D.
Cell Biol. Int. 26:297-300(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 85-238 (ISOFORM 1), TISSUE SPECIFICITY.
Tissue: Articular cartilage.
[5]"Identification and characterization of human glucose transporter-like protein-9 (GLUT9): alternative splicing alters trafficking."
Augustin R., Carayannopoulos M.O., Dowd L.O., Phay J.E., Moley J.F., Moley K.H.
J. Biol. Chem. 279:16229-16236(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY (ISOFORMS 1 AND 2).
[6]"SLC2A9 influences uric acid concentrations with pronounced sex-specific effects."
Doering A., Gieger C., Mehta D., Gohlke H., Prokisch H., Coassin S., Fischer G., Henke K., Klopp N., Kronenberg F., Paulweber B., Pfeufer A., Rosskopf D., Voelzke H., Illig T., Meitinger T., Wichmann H.-E., Meisinger C.
Nat. Genet. 40:430-436(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN THE REGULATION OF SERUM URIC ACID CONCENTRATION, VARIANTS ASP-191; HIS-281; ILE-282 AND LEU-350.
[7]"SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout."
Vitart V., Rudan I., Hayward C., Gray N.K., Floyd J., Palmer C.N., Knott S.A., Kolcic I., Polasek O., Graessler J., Wilson J.F., Marinaki A., Riches P.L., Shu X., Janicijevic B., Smolej-Narancic N., Gorgoni B., Morgan J. expand/collapse author list , Campbell S., Biloglav Z., Barac-Lauc L., Pericic M., Klaric I.M., Zgaga L., Skaric-Juric T., Wild S.H., Richardson W.A., Hohenstein P., Kimber C.H., Tenesa A., Donnelly L.A., Fairbanks L.D., Aringer M., McKeigue P.M., Ralston S.H., Morris A.D., Rudan P., Hastie N.D., Campbell H., Wright A.F.
Nat. Genet. 40:437-442(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN THE REGULATION OF SERUM URIC ACID CONCENTRATION, FUNCTION, VARIANTS ASN-22; ARG-216; MET-275; HIS-281 AND HIS-300.
[8]"Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia."
Matsuo H., Chiba T., Nagamori S., Nakayama A., Domoto H., Phetdee K., Wiriyasermkul P., Kikuchi Y., Oda T., Nishiyama J., Nakamura T., Morimoto Y., Kamakura K., Sakurai Y., Nonoyama S., Kanai Y., Shinomiya N.
Am. J. Hum. Genet. 83:744-751(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS RHUC2 CYS-198 AND TRP-380, CHARACTERIZATION OF VARIANTS RHUC2 CYS-198 AND TRP-380.
[9]Erratum
Matsuo H., Chiba T., Nagamori S., Nakayama A., Domoto H., Phetdee K., Wiriyasermkul P., Kikuchi Y., Oda T., Nishiyama J., Nakamura T., Morimoto Y., Kamakura K., Sakurai Y., Nonoyama S., Kanai Y., Shinomiya N.
Am. J. Hum. Genet. 83:795-795(2008)
[10]"Homozygous SLC2A9 mutations cause severe renal hypouricemia."
Dinour D., Gray N.K., Campbell S., Shu X., Sawyer L., Richardson W., Rechavi G., Amariglio N., Ganon L., Sela B.A., Bahat H., Goldman M., Weissgarten J., Millar M.R., Wright A.F., Holtzman E.J.
J. Am. Soc. Nephrol. 21:64-72(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT RHUC2 ARG-75, CHARACTERIZATION OF VARIANT RHUC2 ARG-75.
[11]"Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2."
Dinour D., Gray N.K., Ganon L., Knox A.J., Shalev H., Sela B.A., Campbell S., Sawyer L., Shu X., Valsamidou E., Landau D., Wright A.F., Holtzman E.J.
Nephrol. Dial. Transplant. 27:1035-1041(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS RHUC2 MET-125 AND CYS-171, CHARACTERIZATION OF VARIANTS RHUC2 MET-125 AND CYS-171.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF210317 mRNA. Translation: AAF85942.1.
AC005674 Genomic DNA. No translation available.
AC098976 Genomic DNA. No translation available.
AC108199 Genomic DNA. Translation: AAY41052.1.
BC018897 mRNA. Translation: AAH18897.1.
BC110414 mRNA. Translation: AAI10415.1.
AF421859 mRNA. Translation: AAL16939.1.
RefSeqNP_001001290.1. NM_001001290.1.
NP_064425.2. NM_020041.2.
UniGeneHs.656895.

3D structure databases

ProteinModelPortalQ9NRM0.
SMRQ9NRM0. Positions 65-504.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000264784.

Chemistry

ChEMBLCHEMBL2052034.

Protein family/group databases

TCDB2.A.1.1.72. the major facilitator superfamily (mfs).

PTM databases

PhosphoSiteQ9NRM0.

Polymorphism databases

DMDM300669647.

Proteomic databases

PaxDbQ9NRM0.
PRIDEQ9NRM0.

Protocols and materials databases

DNASU56606.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000264784; ENSP00000264784; ENSG00000109667. [Q9NRM0-1]
ENST00000309065; ENSP00000311383; ENSG00000109667. [Q9NRM0-2]
ENST00000506583; ENSP00000422209; ENSG00000109667. [Q9NRM0-2]
GeneID56606.
KEGGhsa:56606.
UCSCuc003gmc.3. human. [Q9NRM0-1]
uc003gmd.3. human. [Q9NRM0-2]

Organism-specific databases

CTD56606.
GeneCardsGC04M009772.
H-InvDBHIX0004090.
HGNCHGNC:13446. SLC2A9.
MIM606142. gene.
612076. phenotype.
neXtProtNX_Q9NRM0.
Orphanet94088. Hereditary renal hypouricemia.
PharmGKBPA37771.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0477.
HOGENOMHOG000202871.
HOVERGENHBG014816.
InParanoidQ9NRM0.
KOK08146.
OMAVKAFQTF.
OrthoDBEOG7QVM2R.
PhylomeDBQ9NRM0.
TreeFamTF313762.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ9NRM0.
BgeeQ9NRM0.
CleanExHS_SLC2A9.
GenevestigatorQ9NRM0.

Family and domain databases

InterProIPR020846. MFS_dom.
IPR016196. MFS_dom_general_subst_transpt.
IPR005828. Sub_transporter.
IPR003663. Sugar/inositol_transpt.
IPR005829. Sugar_transporter_CS.
[Graphical view]
PfamPF00083. Sugar_tr. 1 hit.
[Graphical view]
PRINTSPR00171. SUGRTRNSPORT.
SUPFAMSSF103473. SSF103473. 2 hits.
TIGRFAMsTIGR00879. SP. 1 hit.
PROSITEPS50850. MFS. 1 hit.
PS00216. SUGAR_TRANSPORT_1. 1 hit.
PS00217. SUGAR_TRANSPORT_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSLC2A9.
GenomeRNAi56606.
NextBio62053.
PROQ9NRM0.
SOURCESearch...

Entry information

Entry nameGTR9_HUMAN
AccessionPrimary (citable) accession number: Q9NRM0
Secondary accession number(s): Q0VGC4 expand/collapse secondary AC list , Q4W5D1, Q8WV30, Q96P00
Entry history
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: July 13, 2010
Last modified: April 16, 2014
This is version 115 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 4

Human chromosome 4: entries, gene names and cross-references to MIM