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SLC22A5 R169Q

Stable Identifier
R-HSA-5625654
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
OCTN2, Organic cation transporter 2, solute carrier family 22 (organic cation transporter), member 5, Solute carrier family 22 member 5, S22A5_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
SLC22A5, OCTN2
Chain
chain:1-557
Other Identifiers
0006980692
11740657_a_at
11740658_a_at
16989018
205074_at
2828521
2828522
2828523
2828531
2828532
2828534
2828536
2828537
2828540
2828543
2828546
2828548
2828549
2828550
2828551
2828552
2828553
2828554
32084_at
4039277
63062
6584
8107920
A_24_P174755
CCDS4154
CCDS78058
ENSG00000197375
ENSP00000245407
ENSP00000402760
ENST00000245407
ENST00000435065
EntrezGene:6584
g4507004_3p_at
g4507004_3p_x_at
GE54539
GO:0000166
GO:0005215
GO:0005515
GO:0005524
GO:0005886
GO:0005887
GO:0006810
GO:0006811
GO:0006814
GO:0006855
GO:0008514
GO:0009437
GO:0015226
GO:0015238
GO:0015293
GO:0015491
GO:0015651
GO:0015697
GO:0015711
GO:0015879
GO:0015893
GO:0016020
GO:0016021
GO:0016324
GO:0022857
GO:0030165
GO:0031526
GO:0052106
GO:0055085
GO:0060731
GO:0070062
GO:0070715
GO:1902603
HGNC:10969
HPA063062
Hs.443572
ILMN_1699357
MIM:212140
MIM:603377
NM_001308122
NM_003060
NP_001295051
NP_003051
PF00083
PH_hs_0001461
SLC22A5
SLC22A5-201
SLC22A5-203
TC05000635.hg
uc003kww.5
uc003kwx.5
UPI0000130BB6
UPI0000EFD9B4
XM_011543590
XM_017009778
XP_011541892
XP_016865267
XR_001742215
XR_001742216
XR_427718
XR_948290
XR_948291
Participant Of
Other forms of this molecule
Modified Residues
Name
L-arginine 169 replaced with L-glutamine
Coordinate
169
PsiMod HEY
A protein modification that effectively converts a source amino acid residue to an L-glutamine.
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
systemic primary carnitine deficiency disease 14365 carnitine uptake defect, carnitine transporter deficiency, primary carnitine deficiency, deficiency of plasma-membrane carnitine transporter, renal carnitine transport defect (disorder)
Cross References
GeneCards
ZINC target
PRO
Orphanet
HMDB Protein
Interactors (6)