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Protein

Solute carrier family 2, facilitated glucose transporter member 9

Gene

SLC2A9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Transport urate and fructose. May have a role in the urate reabsorption by proximal tubules. Also transports glucose at low rate.2 Publications

GO - Molecular functioni

  • carbohydrate:proton symporter activity Source: UniProtKB
  • glucose transmembrane transporter activity Source: Ensembl
  • transmembrane transporter activity Source: Reactome
  • urate transmembrane transporter activity Source: UniProtKB

GO - Biological processi

  • glucose transmembrane transport Source: UniProtKB
  • hexose transmembrane transport Source: Reactome
  • urate metabolic process Source: UniProtKB

Keywordsi

Biological processSugar transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-189200 Cellular hexose transport
R-HSA-5619047 Defective SLC2A9 causes hypouricemia renal 2 (RHUC2)

Protein family/group databases

TCDBi2.A.1.1.72 the major facilitator superfamily (mfs)

Names & Taxonomyi

Protein namesi
Recommended name:
Solute carrier family 2, facilitated glucose transporter member 9
Alternative name(s):
Glucose transporter type 9
Short name:
GLUT-9
Gene namesi
Name:SLC2A9
Synonyms:GLUT9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000109667.11
HGNCiHGNC:13446 SLC2A9
MIMi606142 gene
neXtProtiNX_Q9NRM0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 51CytoplasmicSequence analysisAdd BLAST51
Transmembranei52 – 72Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini73 – 107ExtracellularSequence analysisAdd BLAST35
Transmembranei108 – 128Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini129 – 140CytoplasmicSequence analysisAdd BLAST12
Transmembranei141 – 161Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini162 – 171ExtracellularSequence analysis10
Transmembranei172 – 192Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini193 – 200CytoplasmicSequence analysis8
Transmembranei201 – 221Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini222 – 231ExtracellularSequence analysis10
Transmembranei232 – 252Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini253 – 316CytoplasmicSequence analysisAdd BLAST64
Transmembranei317 – 337Helical; Name=7Sequence analysisAdd BLAST21
Topological domaini338 – 354ExtracellularSequence analysisAdd BLAST17
Transmembranei355 – 375Helical; Name=8Sequence analysisAdd BLAST21
Topological domaini376 – 381CytoplasmicSequence analysis6
Transmembranei382 – 402Helical; Name=9Sequence analysisAdd BLAST21
Topological domaini403 – 415ExtracellularSequence analysisAdd BLAST13
Transmembranei416 – 436Helical; Name=10Sequence analysisAdd BLAST21
Topological domaini437 – 451CytoplasmicSequence analysisAdd BLAST15
Transmembranei452 – 472Helical; Name=11Sequence analysisAdd BLAST21
Topological domaini473 – 478ExtracellularSequence analysis6
Transmembranei479 – 499Helical; Name=12Sequence analysisAdd BLAST21
Topological domaini500 – 540CytoplasmicSequence analysisAdd BLAST41

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Hypouricemia renal 2 (RHUC2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:612076
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06577275L → R in RHUC2; reduced urate transport activity. 1 PublicationCorresponds to variant dbSNP:rs863225072EnsemblClinVar.1
Natural variantiVAR_065773125T → M in RHUC2; markedly reduced urate transport activity. 1 PublicationCorresponds to variant dbSNP:rs181509591EnsemblClinVar.1
Natural variantiVAR_065774171R → C in RHUC2; markedly reduced urate transport activity. 1 PublicationCorresponds to variant dbSNP:rs776127501EnsemblClinVar.1
Natural variantiVAR_065775198R → C in RHUC2; markedly reduced urate transport activity. 1 PublicationCorresponds to variant dbSNP:rs121908322EnsemblClinVar.1
Natural variantiVAR_065776380R → W in RHUC2; markedly reduced urate transport activity. 1 PublicationCorresponds to variant dbSNP:rs121908321EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi56606
MalaCardsiSLC2A9
MIMi612076 phenotype
OpenTargetsiENSG00000109667
Orphaneti94088 Hereditary renal hypouricemia
PharmGKBiPA37771

Chemistry databases

ChEMBLiCHEMBL2052034
DrugBankiDB09502 Fludeoxyglucose F-18
DB00678 Losartan
DB01032 Probenecid
DB08844 Uric Acid

Polymorphism and mutation databases

BioMutaiSLC2A9
DMDMi300669647

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000503781 – 540Solute carrier family 2, facilitated glucose transporter member 9Add BLAST540

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei9PhosphoserineCombined sources1
Glycosylationi90N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei515PhosphoserineCombined sources1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ9NRM0
PaxDbiQ9NRM0
PeptideAtlasiQ9NRM0
PRIDEiQ9NRM0
ProteomicsDBi82386
82387 [Q9NRM0-2]

PTM databases

iPTMnetiQ9NRM0
PhosphoSitePlusiQ9NRM0

Expressioni

Tissue specificityi

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).2 Publications

Gene expression databases

BgeeiENSG00000109667
CleanExiHS_SLC2A9
ExpressionAtlasiQ9NRM0 baseline and differential
GenevisibleiQ9NRM0 HS

Organism-specific databases

HPAiHPA066229

Interactioni

Protein-protein interaction databases

BioGridi121156, 43 interactors
STRINGi9606.ENSP00000264784

Structurei

3D structure databases

ProteinModelPortaliQ9NRM0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni327 – 333Monosaccharide bindingBy similarity7

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0569 Eukaryota
COG0477 LUCA
GeneTreeiENSGT00760000119022
HOGENOMiHOG000202871
HOVERGENiHBG014816
InParanoidiQ9NRM0
KOiK08146
OMAiGLNAIWY
OrthoDBiEOG091G0A9K
PhylomeDBiQ9NRM0
TreeFamiTF313762

Family and domain databases

CDDicd06174 MFS, 1 hit
InterProiView protein in InterPro
IPR020846 MFS_dom
IPR005828 MFS_sugar_transport-like
IPR036259 MFS_trans_sf
IPR003663 Sugar/inositol_transpt
IPR005829 Sugar_transporter_CS
PfamiView protein in Pfam
PF00083 Sugar_tr, 1 hit
PRINTSiPR00171 SUGRTRNSPORT
SUPFAMiSSF103473 SSF103473, 2 hits
TIGRFAMsiTIGR00879 SP, 1 hit
PROSITEiView protein in PROSITE
PS50850 MFS, 1 hit
PS00216 SUGAR_TRANSPORT_1, 1 hit
PS00217 SUGAR_TRANSPORT_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NRM0-1) [UniParc]FASTAAdd to basket
Also known as: SLC2A9-L

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.

« Hide

        10         20         30         40         50
MARKQNRNSK ELGLVPLTDD TSHAGPPGPG RALLECDHLR SGVPGGRRRK
60 70 80 90 100
DWSCSLLVAS LAGAFGSSFL YGYNLSVVNA PTPYIKAFYN ESWERRHGRP
110 120 130 140 150
IDPDTLTLLW SVTVSIFAIG GLVGTLIVKM IGKVLGRKHT LLANNGFAIS
160 170 180 190 200
AALLMACSLQ AGAFEMLIVG RFIMGIDGGV ALSVLPMYLS EISPKEIRGS
210 220 230 240 250
LGQVTAIFIC IGVFTGQLLG LPELLGKEST WPYLFGVIVV PAVVQLLSLP
260 270 280 290 300
FLPDSPRYLL LEKHNEARAV KAFQTFLGKA DVSQEVEEVL AESRVQRSIR
310 320 330 340 350
LVSVLELLRA PYVRWQVVTV IVTMACYQLC GLNAIWFYTN SIFGKAGIPP
360 370 380 390 400
AKIPYVTLST GGIETLAAVF SGLVIEHLGR RPLLIGGFGL MGLFFGTLTI
410 420 430 440 450
TLTLQDHAPW VPYLSIVGIL AIIASFCSGP GGIPFILTGE FFQQSQRPAA
460 470 480 490 500
FIIAGTVNWL SNFAVGLLFP FIQKSLDTYC FLVFATICIT GAIYLYFVLP
510 520 530 540
ETKNRTYAEI SQAFSKRNKA YPPEEKIDSA VTDGKINGRP
Length:540
Mass (Da):58,702
Last modified:July 13, 2010 - v2
Checksum:iEEA40123DB5233B4
GO
Isoform 2 (identifier: Q9NRM0-2) [UniParc]FASTAAdd to basket
Also known as: GLUT9deltaN, SLC2A9-S

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

Show »
Length:511
Mass (Da):55,721
Checksum:iCF8BD02FCBB0BC42
GO

Polymorphismi

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04564822S → N1 Publication1
Natural variantiVAR_01215725G → R Polymorphism; no effect on urate transport activity. 3 PublicationsCorresponds to variant dbSNP:rs2276961EnsemblClinVar.1
Natural variantiVAR_06577275L → R in RHUC2; reduced urate transport activity. 1 PublicationCorresponds to variant dbSNP:rs863225072EnsemblClinVar.1
Natural variantiVAR_065773125T → M in RHUC2; markedly reduced urate transport activity. 1 PublicationCorresponds to variant dbSNP:rs181509591EnsemblClinVar.1
Natural variantiVAR_075343169V → M Polymorphism; no effect on urate transport activity. 1 PublicationCorresponds to variant dbSNP:rs144196049Ensembl.1
Natural variantiVAR_065774171R → C in RHUC2; markedly reduced urate transport activity. 1 PublicationCorresponds to variant dbSNP:rs776127501EnsemblClinVar.1
Natural variantiVAR_045649191E → D1 PublicationCorresponds to variant dbSNP:rs376990050Ensembl.1
Natural variantiVAR_065775198R → C in RHUC2; markedly reduced urate transport activity. 1 PublicationCorresponds to variant dbSNP:rs121908322EnsemblClinVar.1
Natural variantiVAR_045650216G → R1 PublicationCorresponds to variant dbSNP:rs561633150Ensembl.1
Natural variantiVAR_045651275T → M Polymorphism; no effect on urate transport activity. 2 PublicationsCorresponds to variant dbSNP:rs112404957EnsemblClinVar.1
Natural variantiVAR_045652281D → H Polymorphism; no effect on urate transport activity. 3 PublicationsCorresponds to variant dbSNP:rs73225891EnsemblClinVar.1
Natural variantiVAR_012158282V → I Polymorphism; no effect on urate transport activity. 2 PublicationsCorresponds to variant dbSNP:rs16890979EnsemblClinVar.1
Natural variantiVAR_020337294R → H Polymorphism; no effect on urate transport activity. 1 PublicationCorresponds to variant dbSNP:rs3733591EnsemblClinVar.1
Natural variantiVAR_045653300R → H1 PublicationCorresponds to variant dbSNP:rs145688560EnsemblClinVar.1
Natural variantiVAR_012159350P → L Polymorphism; no effect on urate transport activity. 4 PublicationsCorresponds to variant dbSNP:rs2280205EnsemblClinVar.1
Natural variantiVAR_065776380R → W in RHUC2; markedly reduced urate transport activity. 1 PublicationCorresponds to variant dbSNP:rs121908321EnsemblClinVar.1
Isoform 2 (identifier: Q9NRM0-2)
Natural varianti17A → T in dbSNP:6820230. 1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0348601 – 50MARKQ…GRRRK → MKLSKKDRGEDEESDSAKKK L in isoform 2. 1 PublicationAdd BLAST50

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS3406.1 [Q9NRM0-2]
CCDS3407.1 [Q9NRM0-1]
RefSeqiNP_001001290.1, NM_001001290.1 [Q9NRM0-2]
NP_064425.2, NM_020041.2 [Q9NRM0-1]
UniGeneiHs.444612
Hs.656895

Genome annotation databases

EnsembliENST00000264784; ENSP00000264784; ENSG00000109667 [Q9NRM0-1]
ENST00000309065; ENSP00000311383; ENSG00000109667 [Q9NRM0-2]
ENST00000506583; ENSP00000422209; ENSG00000109667 [Q9NRM0-2]
GeneIDi56606
KEGGihsa:56606
UCSCiuc003gmc.4 human [Q9NRM0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGTR9_HUMAN
AccessioniPrimary (citable) accession number: Q9NRM0
Secondary accession number(s): Q0VGC4
, Q4W5D1, Q8WV30, Q96P00
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: July 13, 2010
Last modified: July 18, 2018
This is version 153 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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