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Protein

Solute carrier family 2, facilitated glucose transporter member 9

Gene

SLC2A9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>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

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processSugar transport, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.1.1.72 the major facilitator superfamily (mfs)

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Solute carrier family 2, facilitated glucose transporter member 9
Alternative name(s):
Glucose transporter type 9
Short name:
GLUT-9
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC2A9
Synonyms:GLUT9
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000109667.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:13446 SLC2A9

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606142 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NRM0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 51CytoplasmicSequence analysisAdd BLAST51
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
56606

MalaCards human disease database

More...
MalaCardsi
SLC2A9
MIMi612076 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000109667

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
94088 Hereditary renal hypouricemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA37771

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2052034

Drug and drug target database

More...
DrugBanki
DB09502 Fludeoxyglucose F-18
DB00678 Losartan
DB01032 Probenecid
DB08844 Uric Acid

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC2A9

Domain mapping of disease mutations (DMDM)

More...
DMDMi
300669647

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000503781 – 540Solute carrier family 2, facilitated glucose transporter member 9Add BLAST540

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei9PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi90N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei515PhosphoserineCombined sources1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9NRM0

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9NRM0

PeptideAtlas

More...
PeptideAtlasi
Q9NRM0

PRoteomics IDEntifications database

More...
PRIDEi
Q9NRM0

ProteomicsDB human proteome resource

More...
ProteomicsDBi
82386
82387 [Q9NRM0-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NRM0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NRM0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000109667 Expressed in 136 organ(s), highest expression level in buccal mucosa cell

CleanEx database of gene expression profiles

More...
CleanExi
HS_SLC2A9

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NRM0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NRM0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA066229

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
121156, 43 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000264784

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q9NRM0

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni327 – 333Monosaccharide bindingBy similarity7

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0569 Eukaryota
COG0477 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159192

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000202871

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG014816

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NRM0

KEGG Orthology (KO)

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KOi
K08146

Identification of Orthologs from Complete Genome Data

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OMAi
SFCIGPG

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0A9K

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NRM0

TreeFam database of animal gene trees

More...
TreeFami
TF313762

Family and domain databases

Conserved Domains Database

More...
CDDi
cd06174 MFS, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR020846 MFS_dom
IPR005828 MFS_sugar_transport-like
IPR036259 MFS_trans_sf
IPR003663 Sugar/inositol_transpt
IPR005829 Sugar_transporter_CS

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00083 Sugar_tr, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00171 SUGRTRNSPORT

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF103473 SSF103473, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00879 SP, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50850 MFS, 1 hit
PS00216 SUGAR_TRANSPORT_1, 1 hit
PS00217 SUGAR_TRANSPORT_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6REK5D6REK5_HUMAN
Solute carrier family 2, facilitate...
SLC2A9
198Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0348601 – 50MARKQ…GRRRK → MKLSKKDRGEDEESDSAKKK L in isoform 2. 1 PublicationAdd BLAST50

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS3406.1 [Q9NRM0-2]
CCDS3407.1 [Q9NRM0-1]

NCBI Reference Sequences

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RefSeqi
NP_001001290.1, NM_001001290.1 [Q9NRM0-2]
NP_064425.2, NM_020041.2 [Q9NRM0-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.444612
Hs.656895

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000264784; ENSP00000264784; ENSG00000109667 [Q9NRM0-1]
ENST00000309065; ENSP00000311383; ENSG00000109667 [Q9NRM0-2]
ENST00000506583; ENSP00000422209; ENSG00000109667 [Q9NRM0-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
56606

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:56606

UCSC genome browser

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UCSCi
uc003gmc.4 human [Q9NRM0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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

3D structure databases

ProteinModelPortaliQ9NRM0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121156, 43 interactors
STRINGi9606.ENSP00000264784

Chemistry databases

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

Protein family/group databases

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

PTM databases

iPTMnetiQ9NRM0
PhosphoSitePlusiQ9NRM0

Polymorphism and mutation databases

BioMutaiSLC2A9
DMDMi300669647

Proteomic databases

EPDiQ9NRM0
PaxDbiQ9NRM0
PeptideAtlasiQ9NRM0
PRIDEiQ9NRM0
ProteomicsDBi82386
82387 [Q9NRM0-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
56606
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
56606
DisGeNETi56606
EuPathDBiHostDB:ENSG00000109667.11

GeneCards: human genes, protein and diseases

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GeneCardsi
SLC2A9

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0004090
HGNCiHGNC:13446 SLC2A9
HPAiHPA066229
MalaCardsiSLC2A9
MIMi606142 gene
612076 phenotype
neXtProtiNX_Q9NRM0
OpenTargetsiENSG00000109667
Orphaneti94088 Hereditary renal hypouricemia
PharmGKBiPA37771

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0569 Eukaryota
COG0477 LUCA
GeneTreeiENSGT00940000159192
HOGENOMiHOG000202871
HOVERGENiHBG014816
InParanoidiQ9NRM0
KOiK08146
OMAiSFCIGPG
OrthoDBiEOG091G0A9K
PhylomeDBiQ9NRM0
TreeFamiTF313762

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
SLC2A9 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SLC2A9

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
56606

Protein Ontology

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PROi
PR:Q9NRM0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000109667 Expressed in 136 organ(s), highest expression level in buccal mucosa cell
CleanExiHS_SLC2A9
ExpressionAtlasiQ9NRM0 baseline and differential
GenevisibleiQ9NRM0 HS

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, 1 hit
TIGRFAMsiTIGR00879 SP, 1 hit
PROSITEiView protein in PROSITE
PS50850 MFS, 1 hit
PS00216 SUGAR_TRANSPORT_1, 1 hit
PS00217 SUGAR_TRANSPORT_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGTR9_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NRM0
Secondary accession number(s): Q0VGC4
, Q4W5D1, Q8WV30, Q96P00
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: July 13, 2010
Last modified: December 5, 2018
This is version 156 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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