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SLC2A9 L75R [plasma membrane]
Stable Identifier
R-HSA-5638240
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
GLUT9, Solute carrier family 2, facilitated glucose transporter member 9, GTR9_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC2A9 causes hypouricemia renal 2 (RHUC2) (Homo sapiens)
Defective SLC2A9 does not transport Fru, Glc, urate (Homo sapiens)
SLC2A9 mutants [plasma membrane] (Homo sapiens)
SLC2A9 L75R [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q9NRM0 SLC2A9
Gene Names
SLC2A9, GLUT9
Chain
chain:1-540
Reference Genes
BioGPS Gene:56606 SLC2A9
COSMIC (genes):SLC2A9 SLC2A9
CTD Gene:56606 SLC2A9
dbSNP Gene:56606 SLC2A9
ENSEMBL:ENSG00000109667 SLC2A9
ENSEMBL:ENSG00000109667.12 SLC2A9
HGNC:13446 SLC2A9
KEGG Gene (Homo sapiens):56606 SLC2A9
Monarch:56606 SLC2A9
NCBI Gene:56606 SLC2A9
OMIM:606142 SLC2A9
UCSC:Q9NRM0 SLC2A9
Reference Transcript
RefSeq:NM_020041.2 SLC2A9
RefSeq:NM_001001290.1 SLC2A9
Other Identifiers
11734177_a_at
16974250
219991_PM_at
219991_at
2760229
2760230
2760231
2760232
2760234
2760251
2760254
2760255
2760263
2760271
2760287
2760298
2760299
2760301
2760314
2760317
2760322
2760329
2760330
56606
63024_at
8099326
A_23_P213014
A_24_P196318
GE82490
GO:0005215
GO:0005351
GO:0005353
GO:0005355
GO:0005515
GO:0005886
GO:0008645
GO:0015143
GO:0015149
GO:0015747
GO:0015749
GO:0015755
GO:0016020
GO:0016323
GO:0016324
GO:0022857
GO:0046415
GO:0055085
GO:1902600
GO:1904659
HMNXSV003004503
HMNXSV003030607
ILMN_1668312
ILMN_1723803
ILMN_1738406
PH_hs_0005208
g9910553_3p_at
Participates
as a member of
SLC2A9 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLC2A9 R171C [plasma membrane]
SLC2A9 R198C [plasma membrane]
SLC2A9 G216R [plasma membrane]
SLC2A9 W23* [plasma membrane]
SLC2A9 T125M [plasma membrane]
SLC2A9 R380W [plasma membrane]
SLC2A9 [plasma membrane]
Modified Residues
Name
L-leucine 75 replaced with L-arginine
Coordinate
75
PsiMod
L-leucine removal [MOD:01641]
A protein modification that effectively removes or replaces an L-leucine.
L-arginine residue [MOD:00011]
A protein modification that effectively converts a source amino acid residue to an L-arginine.
Disease
Name
Identifier
Synonyms
renal tubular transport disease
DOID:447
inborn renal tubular transport disorder
Cross References
RefSeq
NP_001001290.1
,
NP_064425.2
Guide to Pharmacology - Targets
882
OpenTargets
ENSG00000109667
GeneCards
Q9NRM0
HPA
ENSG00000109667-SLC2A9
Ensembl
ENST00000309065
,
ENSP00000264784
,
ENSG00000109667
,
ENST00000506583
,
ENSP00000422209
,
ENSP00000311383
,
ENST00000264784
PRO
Q9NRM0
Pharos - Targets
Q9NRM0
Orphanet
17890
HMDB Protein
HMDBP11770
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