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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
HGNC:13446 SLC2A9
KEGG:hsa:56606 SLC2A9
Monarch:56606 SLC2A9
NCBI Gene:56606 SLC2A9
OMIM:606142 SLC2A9
UCSC:Q9NRM0 SLC2A9
Reference Transcript
RefSeq:NM_001001290.2 SLC2A9
RefSeq:XM_047415975.1 SLC2A9
RefSeq:NM_020041.2 SLC2A9
Participates
as a member of
SLC2A9 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLC2A9 [plasma membrane]
SLC2A9 R380W [plasma membrane]
SLC2A9 T125M [plasma membrane]
SLC2A9 W23* [plasma membrane]
SLC2A9 G216R [plasma membrane]
SLC2A9 R198C [plasma membrane]
SLC2A9 R171C [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
,
XP_047271931.1
Guide to Pharmacology - Targets
882
OpenTargets
ENSG00000109667
ENSEMBL
ENST00000309065
,
ENST00000264784
,
ENSG00000109667
,
ENSP00000264784
,
ENST00000506583
,
ENSP00000311383
,
ENSP00000422209
Mondo
0006510
PRO
Q9NRM0
GlyGen
Q9NRM0
PDB
8Y66
,
8Y65
HPA
ENSG00000109667-SLC2A9
GeneCards
SLC2A9
Pharos - Targets
Q9NRM0
Orphanet
SLC2A9
HMDB Protein
HMDBP11770
Interactors (3)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q9UI26 IPO11
0.527
2
UniProt:Q9Y6D6 BIG1
0.527
2
UniProt:Q5VYK3 ECM29
0.527
2
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