SLC6A19 R240* [plasma membrane]

Stable Identifier
R-HSA-5659732
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Sodium-dependent neutral amino acid transporter B(0)
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
SLC6A19, B0AT1
Chain
chain:1-634
Reference Transcript
Other Identifiers
11722779_a_at
11722780_at
11722781_at
16982699
231021_PM_at
231021_at
231480_PM_at
231480_at
238177_PM_at
238177_at
2799031
2799032
2799033
2799034
2799036
2799037
2799038
2799039
2799041
2799043
2799045
2799047
2799048
2799049
2799050
2799051
2799052
2799053
2799054
2799055
2799057
2799058
2799059
2799060
2799061
340024
8104268
82143_at
83047_at
90109_at
A_14_P202457
A_23_P62070
A_33_P3220545
GE88804
GO:0003333
GO:0005215
GO:0005515
GO:0005576
GO:0005615
GO:0005886
GO:0006865
GO:0007584
GO:0015171
GO:0015175
GO:0015293
GO:0015804
GO:0016020
GO:0016324
GO:0019058
GO:0022857
GO:0031526
GO:0035725
GO:0043226
GO:0055085
GO:0070062
GO:0071702
GO:0071705
HMNXSV003015250
Hs.127748.0.A1_3p_at
Hs.127748.0.A1_3p_x_at
Hs.148367.0.A1_3p_at
Hs.163323.0.A1_3p_at
ILMN_1724021
PH_hs_0038461
TC05000016.hg
Participates
Other forms of this molecule
Modified Residues
Name
Nonsense mutation at L-arginine 240
Coordinate
240
PsiMod
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
Hartnup disease DOID:1060 neutral amino acid transport defect, Neutral 1 amino acid transport defect (disorder), deficiency of tryptophan oxygenase
Cross References
Guide to Pharmacology - Targets
939
OpenTargets
GeneCards
PRO
Pharos - Targets
Orphanet
HMDB Protein
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