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SLC3A1 R181Q [plasma membrane]
Stable Identifier
R-HSA-5655710
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Neutral and basic amino acid transport protein rBAT
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC3A1 causes cystinuria (CSNU) (Homo sapiens)
Defective SLC3A1 (in SLC7A9:SLC3A1) does not exchange L-Arg, CySS-, L-Lys for L-Leu (Homo sapiens)
SLC3A1 mutants:SLC7A9 [plasma membrane] (Homo sapiens)
SLC3A1 mutants [plasma membrane] (Homo sapiens)
SLC3A1 R181Q [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q07837 SLC3A1
Gene Names
SLC3A1, RBAT
Chain
chain:1-685
Reference Genes
BioGPS Gene:6519 SLC3A1
COSMIC (genes):SLC3A1 SLC3A1
CTD Gene:6519 SLC3A1
dbSNP Gene:6519 SLC3A1
ENSEMBL:ENSG00000138079 SLC3A1
ENSEMBL_homo_sapiens_GENE:ENSG00000138079.14 SLC3A1
HGNC:11025 SLC3A1
KEGG Gene (Homo sapiens):6519 SLC3A1
Monarch:6519 SLC3A1
NCBI Gene:6519 SLC3A1
OMIM:104614 SLC3A1
UCSC:Q07837 SLC3A1
Reference Transcript
RefSeq:NM_000341.3 SLC3A1
Other Identifiers
11723948_s_at
11745310_s_at
11759940_at
11760058_at
16879601
205799_PM_s_at
205799_s_at
2479699
2479700
2479701
2479702
2479703
2479704
2479705
2479706
2479707
2479708
2479710
2479712
2479713
2479714
2479715
2479716
2479718
2479719
2479720
2479721
2479722
2479732
2479733
2479734
2479735
6519
77704_at
8041727
A_14_P129997
A_14_P133213
A_24_P217234
A_33_P3418417
A_33_P3418421
A_33_P3418426
GE61512
GO:0005215
GO:0005515
GO:0005576
GO:0005615
GO:0005773
GO:0005774
GO:0005886
GO:0005975
GO:0006865
GO:0010467
GO:0015171
GO:0015174
GO:0015184
GO:0015802
GO:0015810
GO:0015811
GO:0015813
GO:0016020
GO:0016324
GO:0031526
GO:0043226
GO:0044877
GO:0046982
GO:0055085
GO:0070062
GO:1990822
HMNXSV003005696
HMNXSV003013357
HMNXSV003042768
ILMN_1754247
PH_hs_0012888
TC02000275.hg
g306441_3p_a_at
Participates
as a member of
SLC3A1 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLC3A1 P615T [plasma membrane]
SLC3A1 Y533N [plasma membrane]
SLC3A1 M467T [plasma membrane]
SLC3A1 [plasma membrane]
SLC3A1 L678P [plasma membrane]
SLC3A1 M467K [plasma membrane]
Modified Residues
Name
L-arginine 181 replaced with L-glutamine
Coordinate
181
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-glutamine residue [MOD:00016]
A protein modification that effectively converts a source amino acid residue to an L-glutamine.
Disease
Name
Identifier
Synonyms
cystinuria
DOID:9266
Cross References
RefSeq
NP_000332.2
Guide to Pharmacology - Targets
889
OpenTargets
ENSG00000138079
GeneCards
Q07837
HPA
ENSG00000138079-SLC3A1
Ensembl
ENST00000409740
,
ENSP00000260649
,
ENSP00000386954
,
ENST00000409741
,
ENSP00000386709
,
ENSG00000138079
,
ENST00000260649
,
ENST00000409380
,
ENSP00000387337
,
ENSP00000386620
,
ENSP00000386677
,
ENST00000409229
,
ENST00000410056
PRO
Q07837
Pharos - Targets
Q07837
Orphanet
16449
HMDB Protein
HMDBP01812
PDB
6YUP
,
6LI9
,
6LID
,
6YUZ
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