SLC22A5
Protein name:
OCTN2
Aliases:
CT1, CDSP
Substrates:
zwitterions (L-carnitine), organic cations
Transport type:
Cotransporter / Na+, L-carnitine, F / organic cations
Tissue and cellular expression:
skeletal muscle, kidney, prostate, lung, pancreas, heart, small intestine, adrenal gland, thyroid gland, liver, etc.
Subcellular expression:
apical membrane of proximal tubules (kidney)
Disease:
Primary systemic carnitine deficiency, Crohn?s disease
Locus:
5q31
Sequence ID:
NP_003051.1,
NM_003060.3
Gene ID:
6584
Splice variants:
N/D
S22A5_HUMAN (UniProt)
Gene names:
SLC22A5, OCTN2
Protein names and data:
S22A5_HUMAN, Full=Solute carrier family 22 member 5, Full=High-affinity sodium-dependent carnitine cotransporter;Full=Organic cation/carnitine transporter 2;
Length: 557 a.a., Mass: 62752 Da,
fasta formatted sequence
Function:
Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3
Disease:
(OMIM:
212140 603377)
Defects in SLC22A5 are the cause of systemic primary carnitine deficiency (CDSP) [MIM:212140]. CDSP is an autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. Present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal myopathy or cardiomyopathy
Cellular location:
Membrane; Multi-pass membrane protein
Tissue specificity:
Strongly expressed in kidney, skeletal muscle, heart and placenta. Highly expressed in intestinal cell types affected by Crohn disease, including epithelial cells. Expressed in CD68 macrophage and CD43 T-cells but not in CD20 B-cells
Database cross-references
UniProt:
O76082
NextBio:
25621
OMIM:
212140
603377
Ensembl:
ENST00000435065
GeneCard:
GC05P132369
TCDB:
2.A.1.19.3
PharmGenUCSF:
SLC22A5
Guide to Pharmacology:
SLC22A5 (1023)
Organic zwitterions/cation transporters (OCTN) (1023)
HGNC:
HGNC:10969
Genetic variants
See also Ensembl:ENST00000435065
12 - 12
G -> S (in CDSP). VAR_064109
15 - 15
G -> W (in CDSP). VAR_064110
17 - 17
F -> L (in CDSP). VAR_020347
19 - 19
R -> P (in CDSP; carnitine transport is reduced to less than 5% of normal). VAR_064111
22 - 22
Missing (in CDSP; reduces carnitine transport). VAR_066842
26 - 26
S -> N (in CDSP; reduces carnitine transport). VAR_066843
32 - 32
N -> S (in CDSP; reduces carnitine transport). VAR_064112
46 - 46
P -> S (in CDSP; carnitine transport is reduced to less than 5% of normal). VAR_064113
66 - 66
T -> P (associated with CDSP; unclassified missense variant). VAR_064114
75 - 75
R -> P (associated with CDSP; unclassified missense variant). VAR_064115
83 - 83
R -> L (in CDSP; reduces carnitine transport). VAR_064116
96 - 96
G -> A (associated with CDSP; unclassified missense variant). VAR_064117
122 - 122
D -> Y (in CDSP). VAR_064118
123 - 123
V -> G (associated with CDSP; unclassified missense variant). VAR_064119
142 - 142
A -> S (in CDSP). VAR_064120
143 - 143
P -> L (associated with CDSP; unclassified missense variant). VAR_064121
144 - 144
L -> F (in dbSNP:rs10040427). VAR_020348
10040427
169 - 169
R -> Q (in CDSP; reduces carnitine transport). VAR_009252
169 - 169
R -> W (in CDSP; abolishes carnitine transport). VAR_064122
177 - 177
M -> V (associated with CDSP; unclassified missense variant). VAR_064123
179 - 179
M -> L (in CDSP). VAR_022564
186 - 186
L -> P (in CDSP). VAR_064124
211 - 211
Y -> C (in CDSP). VAR_009253
214 - 214
A -> V (in CDSP; reduces carnitine transport). VAR_064125
227 - 227
R -> H (in CDSP). VAR_064126
230 - 230
F -> L (associated with CDSP; unclassified missense variant). VAR_064127
232 - 232
T -> M (in CDSP; markedly reduced carnitine transport compared to the wild- type protein). VAR_064128
234 - 234
G -> R (in CDSP). VAR_064129
240 - 240
A -> T (associated with CDSP; unclassified missense variant). VAR_064130
242 - 242
G -> V (in CDSP; abolishes carnitine transport). VAR_064131
257 - 257
R -> W (in CDSP). VAR_064132
264 - 264
T -> R (in CDSP). VAR_064133
280 - 280
S -> F (in CDSP; reduces carnitine transport). VAR_066844
282 - 282
R -> Q (in CDSP; reduces carnitine transport). VAR_064134
283 - 283
W -> C (in CDSP; reduces L-carnitine uptake). VAR_022565
283 - 283
W -> R (in CDSP; reduces carnitine transport). VAR_009254
301 - 301
A -> D (in CDSP; has 2-3% residual carnitine transport of the value measured in cells expressing the wild-type protein). VAR_064135
312 - 312
I -> V (associated with CDSP; unclassified missense variant). VAR_064136
351 - 351
W -> R (in CDSP; abolishes carnitine transport). VAR_064137
355 - 355
S -> L (in CDSP). VAR_064138
358 - 358
Y -> N (associated with CDSP; unclassified missense variant). VAR_064139
362 - 362
S -> L (in CDSP). VAR_064140
398 - 398
P -> L (in CDSP). VAR_064141
399 - 399
R -> Q (in CDSP; carnitine transport is reduced to less than 5% of normal). VAR_064142
399 - 399
R -> W (in CDSP). VAR_064143
440 - 440
T -> M (in CDSP; reduces carnitine transport). VAR_064144
442 - 442
A -> I (in CDSP; requires 2 nucleotide substitutions; reduces carnitine transport). VAR_064145
443 - 443
F -> V (in CDSP). VAR_064146
446 - 446
V -> F (in CDSP; reduces carnitine transport). VAR_009255
447 - 447
Y -> C (in CDSP; reduces carnitine transport). VAR_064147
449 - 449
Y -> D (in CDSP; dbSNP:rs11568514). VAR_029315
11568514
452 - 452
E -> K (in CDSP). VAR_009256
455 - 455
P -> R (in CDSP). VAR_064148
467 - 467
S -> C (in CDSP; reduces L-carnitine uptake). VAR_022566
468 - 468
T -> R (in CDSP; markedly reduced carnitine transport compared to the wild- type protein). VAR_064149
471 - 471
R -> C (in CDSP). VAR_064150
471 - 471
R -> P (in CDSP; reduces carnitine transport). VAR_066845
478 - 478
P -> L (in CDSP; loss of carnitine transport but stimulated organic cation transport). VAR_009257
481 - 481
V -> F. VAR_020349
481 - 481
V -> I. VAR_036816
488 - 488
R -> C (in CDSP). VAR_064151
488 - 488
R -> H (in CDSP; reduces carnitine transport). VAR_066846
507 - 507
L -> S (in CDSP). VAR_064152
508 - 508
F -> L. VAR_029316
530 - 530
M -> V. VAR_029317
549 - 549
P -> S (associated with CDSP; unclassified missense variant; dbSNP:rs11568525). VAR_020350
11568525