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SLC7A9 R333W [plasma membrane]
Stable Identifier
R-HSA-5660898
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
B(0,+)-type amino acid transporter 1, BAT1
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC7A9 causes cystinuria (CSNU) (Homo sapiens)
Defective SLC7A9 (in SLC7A9:SLC3A1) does not exchange L-Arg, CySS-, L-Lys for L-Leu (Homo sapiens)
SLC3A1:SLC7A9 mutants [plasma membrane] (Homo sapiens)
SLC7A9 mutants [plasma membrane] (Homo sapiens)
SLC7A9 R333W [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:P82251 SLC7A9
Gene Names
SLC7A9, BAT1
Chain
chain:1-487
Reference Genes
BioGPS Gene:11136 SLC7A9
COSMIC (genes):SLC7A9 SLC7A9
CTD Gene:11136 SLC7A9
dbSNP Gene:11136 SLC7A9
ENSEMBL:ENSG00000021488 SLC7A9
HGNC:11067 SLC7A9
KEGG:hsa:11136 SLC7A9
Monarch:11136 SLC7A9
NCBI Gene:11136 SLC7A9
OMIM:604144 SLC7A9
UCSC:P82251 SLC7A9
Reference Transcript
RefSeq:NM_001243036.1 SLC7A9
RefSeq:XM_011526402.2 SLC7A9
RefSeq:NM_014270.4 SLC7A9
RefSeq:NM_001126335.1 SLC7A9
Other Identifiers
11136
11726940_a_at
16871161
220135_PM_s_at
220135_s_at
3858758
3858759
3858765
3858766
3858767
3858768
3858770
3858772
3858773
3858774
3858775
3858776
3858778
3858779
3858782
3858783
3858784
3858786
3858787
3858788
3858790
8035941
89096_at
A_23_P142250
GE62493
GO:0003333
GO:0005215
GO:0005515
GO:0005886
GO:0006865
GO:0015171
GO:0015175
GO:0015184
GO:0015297
GO:0015804
GO:0015811
GO:0016020
GO:0016324
GO:0022857
GO:0031526
GO:0042605
GO:0046982
GO:0055085
GO:0065003
GO:0180009
GO:1902475
GO:1990822
HMNXSV003048161
ILMN_1735445
PH_hs_0033197
TC19001390.hg
g7657590_3p_a_at
Participates
as a member of
SLC7A9 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLC7A9 G105R [plasma membrane]
SLC7A9 Y232C [plasma membrane]
SLC7A9 V170M [plasma membrane]
SLC7A9 [plasma membrane]
Modified Residues
Name
L-arginine 333 replaced with L-tryptophan
Coordinate
333
PsiMod
L-tryptophan residue [MOD:00027]
A protein modification that effectively converts a source amino acid residue to L-tryptophan.
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name
Identifier
Synonyms
cystinuria
DOID:9266
Cross References
Guide to Pharmacology - Targets
900
ENSEMBL
ENST00000590341
,
ENST00000023064
,
ENST00000587772
,
ENSP00000464822
,
ENSP00000468439
,
ENSP00000023064
OpenTargets
ENSG00000021488
HPA
ENSG00000021488-SLC7A9
PRO
P82251
Pharos - Targets
P82251
Orphanet
SLC7A9
HMDB Protein
HMDBP01816
PDB
6YV1
,
6YUP
,
6LID
,
6LI9
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