SLC2A9
entrez
56606
canonical
uniprot
Q9NRM0
canonical
ensembl
ENSG00000109667
resolver
ensp
ENSP00000264784
resolver
ensp
ENSP00000311383
resolver
ensp
ENSP00000655729
resolver
ensp
ENSP00000655730
resolver
ensp
ENSP00000655731
resolver
ensp
ENSP00000655734
resolver
ensp
ENSP00000777003
resolver
ensp
ENSP00000777004
resolver
genesymbol
SLC2A9
resolver
genesymbol_syn
GLUT9
resolver
hgnc
HGNC:13446
resolver
uniprot
Q0VGC4
resolver
uniprot
Q4W5D1
resolver
uniprot
Q8WV30
resolver
uniprot
Q96P00
resolver
uniprot_entry
GTR9_HUMAN
resolver
uniprot_sec
Q0VGC4
resolver
uniprot_sec
Q4W5D1
resolver
uniprot_sec
Q8WV30
resolver
uniprot_sec
Q96P00
resolver
activity_regulation
ACTIVITY REGULATION: [Isoform 1]: Extracellular glucose and urate accelerate urate efflux (PubMed:18842065, PubMed:22647630). Intracellular urate, glucose and fructose accelerate urate influx (PubMed:22647630). {ECO:0000269|PubMed:18842065, ECO:0000269|PubMed:22647630}.; ACTIVITY REGULATION: [Isoform 2]: No effect of extracellular urate, glucose or fructose on urate efflux. Intracellular urate and fructose slightly accelerate urate influx. {ECO:0000269|PubMed:22647630}.
uniprot
proteins
amino_acid_sequence
MARKQNRNSKELGLVPLTDDTSHAGPPGPGRALLECDHLRSGVPGGRRRKDWSCSLLVASLAGAFGSSFLYGYNLSVVNAPTPYIKAFYNESWERRHGRPIDPDTLTLLWSVTVSIFAIGGLVGTLIVKMIGKVLGRKHTLLANNGFAISAALLMACSLQAGAFEMLIVGRFIMGIDGGVALSVLPMYLSEISPKEIRGSLGQVTAIFICIGVFTGQLLGLPELLGKESTWPYLFGVIVVPAVVQLLSLPFLPDSPRYLLLEKHNEARAVKAFQTFLGKADVSQEVEEVLAESRVQRSIRLVSVLELLRAPYVRWQVVTVIVTMACYQLCGLNAIWFYTNSIFGKAGIPPAKIPYVTLSTGGIETLAAVFSGLVIEHLGRRPLLIGGFGLMGLFFGTLTITLTLQDHAPWVPYLSIVGILAIIASFCSGPGGIPFILTGEFFQQSQRPAAFIIAGTVNWLSNFAVGLLFPFIQKSLDTYCFLVFATICITGAIYLYFVLPETKNRTYAEISQAFSKRNKAYPPEEKIDSAVTDGKINGRP
uniprot
proteins
disease_involvement
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. {ECO:0000269|PubMed:18701466, ECO:0000269|PubMed:19026395, ECO:0000269|PubMed:19926891, ECO:0000269|PubMed:21810765, ECO:0000269|PubMed:22132964, ECO:0000269|PubMed:22527535, ECO:0000269|PubMed:29967582}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: High-capacity urate transporter, which may play a role in the urate reabsorption by proximal tubules (PubMed:18327257, PubMed:18701466, PubMed:22647630, PubMed:28083649, PubMed:36749388). May have a residual high-affinity, low-capacity glucose and fructose transporter activity (PubMed:18327257, PubMed:18701466, PubMed:18842065). Transports urate at rates 45- to 60-fold faster than glucose (PubMed:18842065). Does not transport galactose (PubMed:28083649). May mediate small uptake of adenine but not of other nucleobases (PubMed:22647630). {ECO:0000269|PubMed:18327257, ECO:0000269|PubMed:18701466, ECO:0000269|PubMed:18842065, ECO:0000269|PubMed:22647630, ECO:0000269|PubMed:28083649}.
uniprot
proteins
mass_dalton
58702
uniprot
proteins
mutagenesis
MUTAGEN 157; /note="C->V: No effect on fructose transport. Increased urate binding affinity and decreased urate transport capacity."; /evidence="ECO:0000269|PubMed:28117388"; MUTAGEN 210; /note="C->F: Decreased urate uptake. Decreased Vmax for urate transport. Has no effect on glucose transport."; /evidence="ECO:0000269|PubMed:29967582"; MUTAGEN 210; /note="C->T: Decreased fructose transport. Higher affinity and lower transport capacity for urate."; /evidence="ECO:0000269|PubMed:28117388"; MUTAGEN 326; /note="C->G: No effect on urate and fructose transport."; /evidence="ECO:0000269|PubMed:28117388"; MUTAGEN 330; /note="C->S: Increased fructose transport. Highly reduced urate transport."; /evidence="ECO:0000269|PubMed:28117388"; MUTAGEN 332; /note="L->V: Increased fructose binding affinity and decreased fructose transport capacity."; /evidence="ECO:0000269|PubMed:28117388"; MUTAGEN 427; /note="C->A: No effect on fructose transport. Higher affinity and lower transport capacity for urate."; /evidence="ECO:0000269|PubMed:28117388"; MUTAGEN 480; /note="C->S: No effect on urate and fructose transport."; /evidence="ECO:0000269|PubMed:28117388"; MUTAGEN 488; /note="C->L: No effect on fructose transport. Highly reduced urate transport."; /evidence="ECO:0000269|PubMed:28117388
uniprot
proteins
protein_family
Glucose transporter subfamily
uniprot
proteins
protein_family
Major facilitator superfamily
uniprot
proteins
protein_family
Sugar transporter (TC 2.A.1.1) family
uniprot
proteins
pubmed
10860667
uniprot
proteins
pubmed
11991658
uniprot
proteins
pubmed
14739288
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17710649
uniprot
proteins
pubmed
18327256
uniprot
proteins
pubmed
18327257
uniprot
proteins
pubmed
18701466
uniprot
proteins
pubmed
18842065
uniprot
proteins
pubmed
19026395
uniprot
proteins
pubmed
19926891
uniprot
proteins
pubmed
21810765
uniprot
proteins
pubmed
22132964
uniprot
proteins
pubmed
22527535
uniprot
proteins
pubmed
22647630
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24409316
uniprot
proteins
pubmed
25268603
uniprot
proteins
pubmed
28083649
uniprot
proteins
pubmed
28117388
uniprot
proteins
pubmed
29967582
uniprot
proteins
pubmed
36749388
uniprot
proteins
sequence_length
540
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Cell membrane {ECO:0000269|PubMed:18701466}; Multi-pass membrane protein. Basolateral cell membrane {ECO:0000269|PubMed:14739288, ECO:0000269|PubMed:24409316}; Multi-pass membrane protein {ECO:0000269|PubMed:14739288}.; SUBCELLULAR LOCATION: [Isoform 2]: Cell membrane {ECO:0000269|PubMed:18701466}. Apical cell membrane {ECO:0000269|PubMed:24409316}; Multi-pass membrane protein. Basolateral cell membrane {ECO:0000269|PubMed:14739288, ECO:0000269|PubMed:24409316}; Multi-pass membrane protein {ECO:0000269|PubMed:14739288}.
uniprot
proteins
transmembrane_region
TRANSMEM 52..72; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 108..128; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 141..161; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 172..192; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 201..221; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 232..252; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 317..337; /note="Helical; Name=7"; /evidence="ECO:0000255"; TRANSMEM 355..375; /note="Helical; Name=8"; /evidence="ECO:0000255"; TRANSMEM 382..402; /note="Helical; Name=9"; /evidence="ECO:0000255"; TRANSMEM 416..436; /note="Helical; Name=10"; /evidence="ECO:0000255"; TRANSMEM 452..472; /note="Helical; Name=11"; /evidence="ECO:0000255"; TRANSMEM 479..499; /note="Helical; Name=12"; /evidence="ECO:0000255
uniprot
proteins