DISEASES

Disease-gene associations mined from literature

SLC22A1 disease associations

SLC22A1 [ENSP00000355930]

Solute carrier family 22 member 1; 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. ECO:0000269|PubMed:11408531, ECO:0000269|PubMed:15389554, ECO:0000269|PubMed:16272756, ECO:0000269|PubMed:16581093, ECO:0000269|PubMed:9187257, ECO:0000269|PubMed:9260930,

Synonyms:  SLC22A1,  SLC22A1p,  hSLC22A1,  F5GY86,  F5H5P3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM