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SLC7A7 L334R [plasma membrane]
Stable Identifier
R-HSA-5660926
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Y+L amino acid transporter 1
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC7A7 causes lysinuric protein intolerance (LPI) (Homo sapiens)
Defective SLC7A7 does not exchange L-Arg for L-Leu, Na+ across the plasma membrane (Homo sapiens)
SLC3A2:SLC7A7 mutants [plasma membrane] (Homo sapiens)
SLC7A7 mutants [plasma membrane] (Homo sapiens)
SLC7A7 L334R [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q9UM01 SLC7A7
Gene Names
SLC7A7
Chain
chain:1-511
Reference Genes
BioGPS Gene:9056 SLC7A7
COSMIC (genes):SLC7A7 SLC7A7
CTD Gene:9056 SLC7A7
dbSNP Gene:9056 SLC7A7
ENSEMBL:ENSG00000155465 SLC7A7
ENSEMBL:ENSG00000155465.21 SLC7A7
HGNC:11065 SLC7A7
KEGG Gene (Homo sapiens):9056 SLC7A7
Monarch:9056 SLC7A7
NCBI Gene:9056 SLC7A7
OMIM:603593 SLC7A7
UCSC:Q9UM01 SLC7A7
Reference Transcript
RefSeq:NM_001126106.2 SLC7A7
RefSeq:NM_001126105.2 SLC7A7
RefSeq:XM_011537298.2 SLC7A7
RefSeq:XM_011537299.1 SLC7A7
RefSeq:XM_006720302.1 SLC7A7
Other Identifiers
11720989_a_at
204588_PM_s_at
204588_s_at
33731_at
3556817
3556818
3556819
3556820
3556822
3556823
3556825
3556826
3556827
3556828
3556829
3556830
3556831
3556837
3556838
3556839
3556842
3556843
3556844
3556845
7977786
9056
A_23_P99642
GE55209
GO:0000821
GO:0003333
GO:0005215
GO:0005886
GO:0006520
GO:0006865
GO:0015174
GO:0015179
GO:0015820
GO:0016020
GO:0016323
GO:0022857
GO:0055085
GO:0061459
GO:1903826
GO:1990822
HMNXSV003020439
ILMN_1810275
PH_hs_0011505
TC14000936.hg
TC14001926.hg
g4507054_3p_a_at
Participates
as a member of
SLC7A7 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLC7A7 Y457* [plasma membrane]
SLC7A7 W242* [plasma membrane]
SLC7A7 T299Ifs*10 [plasma membrane]
SLC7A7 M50K [plasma membrane]
SLC7A7 T188I [plasma membrane]
SLC7A7 [plasma membrane]
Modified Residues
Name
L-leucine 334 replaced with L-arginine
Coordinate
334
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
amino acid metabolic disorder
DOID:9252
inborn errors of amino acid metabolism
Cross References
RefSeq
NP_001119577.1
,
XP_011535601.1
,
NP_001119578.1
,
XP_006720365.1
,
XP_011535600.1
Guide to Pharmacology - Targets
898
OpenTargets
ENSG00000155465
GeneCards
Q9UM01
HPA
ENSG00000155465-SLC7A7
Ensembl
ENSP00000380662
,
ENST00000397532
,
ENSP00000380663
,
ENST00000397528
,
ENST00000397529
,
ENSP00000380666
,
ENST00000285850
,
ENSP00000501493
,
ENSP00000452551
,
ENSP00000451881
,
ENSG00000155465
,
ENSP00000285850
,
ENST00000674313
,
ENST00000555702
,
ENST00000555911
PRO
Q9UM01
Pharos - Targets
Q9UM01
Orphanet
15520
HMDB Protein
HMDBP03080
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