SLC17A5 R39C [lysosomal membrane]

Stable Identifier
R-HSA-5624253
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal membrane
Synonyms
Sialin, S17A5_HUMAN
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:Q9NRA2 SLC17A5
Gene Names
SLC17A5
Chain
chain:1-495
Reference Genes
BioGPS Gene:26503 SLC17A5
COSMIC (genes):SLC17A5 SLC17A5
CTD Gene:26503 SLC17A5
dbSNP Gene:26503 SLC17A5
ENSEMBL:ENSG00000119899 SLC17A5
HGNC:10933 SLC17A5
KEGG:hsa:26503 SLC17A5
Monarch:26503 SLC17A5
NCBI Gene:26503 SLC17A5
OMIM:604322 SLC17A5
UCSC:Q9NRA2 SLC17A5
Reference Transcript
Other Identifiers
11723476_at
11723477_x_at
11752119_x_at
11753191_a_at
11758156_s_at
17020823
221041_PM_s_at
221041_s_at
223441_PM_at
223441_at
26503
2960959
2960960
2960961
2960962
2960963
2960964
2960968
2960970
2960971
2960972
2960976
2960977
2960978
2960979
2960980
2960982
2960983
2960994
2960995
2960996
65644_at
8127549
88617_at
A_23_P110896
A_33_P3265270
A_33_P3416321
GE58496
GO:0005215
GO:0005351
GO:0005764
GO:0005765
GO:0005773
GO:0005829
GO:0005886
GO:0006811
GO:0006820
GO:0006865
GO:0009617
GO:0015136
GO:0015293
GO:0015538
GO:0015739
GO:0016020
GO:0016323
GO:0022857
GO:0030672
GO:0031410
GO:0034219
GO:0042874
GO:0042880
GO:0043226
GO:0045202
GO:0055085
GO:0098700
GO:0098978
GO:1902600
HMNXSV003032940
Hs.117865.1.S2_3p_at
ILMN_1684434
PH_hs_0006462
TC06001876.hg
g6912665_3p_a_at
Participates
as a member of
Other forms of this molecule
SLC17A5 P334R [lysosomal membrane]
SLC17A5 H183R [lysosomal membrane]
SLC17A5 T178Nfs*34 [lysosomal membrane]
SLC17A5 I373Lfs*26 [lysosomal membrane]
SLC17A5 [lysosomal membrane]
Modified Residues
Name
L-arginine 39 replaced with L-cysteine
Coordinate
39
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
Disease
Name Identifier Synonyms
inherited metabolic disorder DOID:655 Metabolic hereditary disorder, Inborn Errors of Metabolism, inborn metabolism disorder
Cross References
Guide to Pharmacology - Targets
ENSEMBL
OpenTargets
HPA
PRO
Pharos - Targets
GlyGen
Orphanet
HMDB Protein
PDB
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:O00214 LEG8      0.527 2
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