SLC22A5 R169W [plasma membrane]

Stable Identifier
R-HSA-5625686
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
OCTN2, Organic cation transporter 2, solute carrier family 22 (organic cation transporter), member 5, Solute carrier family 22 member 5, S22A5_HUMAN
Icon
SLC22A5 R169W [plasma membrane] icon
SLC22A5 R169W [plasma membrane] icon
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:O76082 SLC22A5
Gene Names
SLC22A5, OCTN2
Chain
chain:1-557
Reference Genes
BioGPS Gene:6584 SLC22A5
COSMIC (genes):SLC22A5 SLC22A5
CTD Gene:6584 SLC22A5
dbSNP Gene:6584 SLC22A5
ENSEMBL:ENSG00000197375 SLC22A5
HGNC:10969 SLC22A5
KEGG:hsa:6584 SLC22A5
Monarch:6584 SLC22A5
NCBI Gene:6584 SLC22A5
OMIM:603377 SLC22A5
UCSC:O76082 SLC22A5
Reference Transcript
Other Identifiers
11740657_a_at
11740658_a_at
16989018
205074_PM_at
205074_at
2828521
2828522
2828523
2828531
2828532
2828533
2828534
2828536
2828537
2828538
2828539
2828540
2828542
2828543
2828544
2828545
2828546
2828547
2828548
2828549
2828550
2828551
2828552
2828553
2828554
2828556
2828557
32084_at
4039277
6584
75846_at
8107920
A_14_P137483
A_24_P174755
GE54539
GE624451
GE63195
GO:0003013
GO:0005215
GO:0005515
GO:0005524
GO:0005737
GO:0005783
GO:0005829
GO:0005886
GO:0006814
GO:0009609
GO:0009925
GO:0015199
GO:0015226
GO:0015293
GO:0015651
GO:0015697
GO:0015879
GO:0016020
GO:0016324
GO:0022857
GO:0030165
GO:0031526
GO:0034341
GO:0034612
GO:0042908
GO:0042910
GO:0043226
GO:0055085
GO:0060731
GO:0070062
GO:0070715
GO:0150104
GO:1900749
GO:1901235
GO:1902270
GO:1902603
GO:1990961
HMNXSV003001628
HMNXSV003022058
ILMN_1699357
PH_hs_0001461
TC05000635.hg
g4507004_3p_at
g4507004_3p_x_at
Participates
as a member of
Other forms of this molecule
SLC22A5 [plasma membrane]
SLC22A5 W132* [plasma membrane]
SLC22A5 R169Q [plasma membrane]
SLC22A5 R254* [plasma membrane]
SLC22A5 G15W [plasma membrane]
SLC22A5 P478L [plasma membrane]
Modified Residues
Name
L-arginine 169 replaced with L-tryptophan
Coordinate
169
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
systemic primary carnitine deficiency disease DOID:14365 carnitine uptake defect, carnitine transporter deficiency, primary carnitine deficiency, deficiency of plasma-membrane carnitine transporter, renal carnitine transport defect (disorder)
Cross References
Guide to Pharmacology - Targets
OpenTargets
ENSEMBL
HPA
ZINC - Substances
ZINC target
PRO
Pharos - Targets
Orphanet
GlyGen
HMDB Protein
Interactors (9)
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