SLC22A1
Protein name:
OCT1
Aliases:
N/D
Substrates:
organic cations
Transport type:
Facilitated transporter
Tissue and cellular expression:
liver, small intestine, kidney, lung, skeletal muscle, brain (endothelial cells of blood-brain barrier), adipose tissue, immune cells
Subcellular expression:
sinusoidal membrane of hepatocytes (liver)
Disease:
cytotoxicity of oxaliplatin and picoplatin
Locus:
6q26
Sequence ID:
NP_003048.1,
NM_003057.2
NP_694857.1,
NM_153187.1
Gene ID:
6580
Splice variants:
3 splice variants from liver with no uptake in vitro
S22A1_HUMAN (UniProt)
Gene names:
SLC22A1, OCT1
Protein names and data:
S22A1_HUMAN, Full=Solute carrier family 22 member 1, Full=Organic cation transporter 1;Short=hOCT1;
Length: 554 a.a., Mass: 61154 Da,
fasta formatted sequence
Function:
Translocates a broad array of organic cations with various structures and molecular weights including the model compounds 1-methyl-4-phenylpyridinium (MPP), tetraethylammonium (TEA), N-1-methylnicotinamide (NMN), 4-(4-(dimethylamino)styryl)- N-methylpyridinium (ASP), the endogenous compounds choline, guanidine, histamine, epinephrine, adrenaline, noradrenaline and dopamine, and the drugs quinine, and metformin. The transport of organic cations is inhibited by a broad array of compounds like tetramethylammonium (TMA), cocaine, lidocaine, NMDA receptor antagonists, atropine, prazosin, cimetidine, TEA and NMN, guanidine, cimetidine, choline, procainamide, quinine, tetrabutylammonium, and tetrapentylammonium. Translocates organic cations in an electrogenic and pH-independent manner. Translocates organic cations across the plasma membrane in both directions. Transports the polyamines spermine and spermidine. Transports pramipexole across the basolateral membrane of the proximal tubular epithelial cells. The choline transport is activated by MMTS. Regulated by various intracellular signaling pathways including inhibition by protein kinase A activation, and endogenously activation by the calmodulin complex, the calmodulin- dependent kinase II and LCK tyrosine kinase
Cellular location:
Basolateral cell membrane; Multi-pass membrane protein
Tissue specificity:
Widely expressed with high level in liver. Isoform 1 and isoform 2 are expressed in liver. Isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in glial cell lines
Database cross-references
UniProt:
O15245
NextBio:
25603
OMIM:
602607
Ensembl:
ENST00000460902
GeneCard:
GC06P160121
PharmGenUCSF:
SLC22A1
Guide to Pharmacology:
SLC22A1 (1019)
Organic cation transporters (OCT) (1019)
HGNC:
HGNC:10963
Genetic variants
See also Ensembl:ENST00000460902
14 - 14
S -> F (exclusively found in the African American population; increase of the MPP uptake; when associated with V-408; dbSNP:rs34447885). VAR_043319
34447885
41 - 41
F -> L (in dbSNP:rs2297373). VAR_043320
2297373
61 - 61
R -> C (reduction of the MPP uptake. Reduction of the MPP uptake; when associated with V-408; dbSNP:rs12208357). VAR_043321
12208357
85 - 85
L -> F (no changes in the MPP uptake; when associated with V-408; dbSNP:rs35546288). VAR_043322
35546288
88 - 88
C -> R (in dbSNP:rs55918055). VAR_043323
55918055
160 - 160
L -> F (no changes in both TEA and MPP uptake. No MPP uptake; when associated with S-401. Largely localized in the plasma membrane; dbSNP:rs683369). VAR_043324
683369
189 - 189
S -> L (no changes in the MPP uptake. No changes in the MPP uptake; when associated with V-408). VAR_043325
220 - 220
G -> V (no MPP uptake. Reduction of the MPP uptake; when associated with V-408). VAR_043326
283 - 283
P -> L (in dbSNP:rs4646277). VAR_043327
4646277
287 - 287
R -> G (in dbSNP:rs4646278). VAR_043328
4646278
341 - 341
P -> L (reduction of the MPP uptake. Reduction of the MPP uptake; when associated with V-408. Partly reduction of TEA uptake. Largely localized in the plasma membrane; dbSNP:rs2282143). VAR_043329
2282143
342 - 342
R -> H (no changes in the MPP uptake; when associated with V-408; dbSNP:rs34205214). VAR_043330
34205214
401 - 401
G -> S (no MPP uptake. Reduction of the serotonin uptake. No MPP uptake; when associated with L-160; dbSNP:rs34130495). VAR_043331
34130495
408 - 408
M -> V (no changes in the MPP uptake. No changes in the MPP uptake; when associated with F-14. No changes in the MPP uptake; when associated with F-85. No changes in the MPP uptake; when associated with L-189. No changes in the MPP uptake; when associated with His-342. No changes in the MPP uptake; when associated with M-420 del. No changes in the MPP uptake; when associated with I- 440. No changes in the MPP uptake; when associated with I-461. No changes in the MPP uptake; when associated with M-488. Reduction of the MPP uptake; when associated with C-61. No MPP uptake; when associated with V-220. Reduction of the MPP uptake; when associated with L-341. No MPP uptake; when associated with S- 401. No MPP uptake; when associated with R-465; dbSNP:rs628031). VAR_043332
628031
420 - 420
Missing (no changes in the MPP uptake. No changes in the MPP uptake; when associated with V-408). VAR_043333
440 - 440
M -> I (in dbSNP:rs35956182). VAR_043334
35956182
461 - 461
V -> I (no changes in the MPP uptake; when associated with V-408; dbSNP:rs34295611). VAR_043335
34295611
465 - 465
G -> R (reduction of the localization to the basolateral membrane. No MPP uptake; when associated with V-408; dbSNP:rs34059508). VAR_043336
34059508
488 - 488
R -> M (no changes in the MPP uptake; when associated with V-408; dbSNP:rs35270274). VAR_043337
35270274