##gff-version 3 O15245 UniProtKB Chain 1 554 . . . ID=PRO_0000333875;Note=Solute carrier family 22 member 1 O15245 UniProtKB Topological domain 1 21 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Transmembrane 22 42 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Topological domain 43 149 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Transmembrane 150 170 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Topological domain 171 176 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Transmembrane 177 197 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Topological domain 198 206 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Transmembrane 207 229 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Topological domain 230 235 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Transmembrane 236 256 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Topological domain 257 262 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Transmembrane 263 283 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Topological domain 284 347 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Transmembrane 348 368 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Topological domain 369 376 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Transmembrane 377 397 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Topological domain 398 402 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Transmembrane 403 423 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Topological domain 424 431 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Transmembrane 432 452 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Topological domain 453 464 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Transmembrane 465 485 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Topological domain 486 492 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Transmembrane 493 513 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Topological domain 514 554 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Motif 283 287 . . . Note=Proline-rich sequence;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:26979622;Dbxref=PMID:26979622 O15245 UniProtKB Modified residue 333 333 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08966 O15245 UniProtKB Modified residue 541 541 . . . Note=Phosphothreonine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 O15245 UniProtKB Glycosylation 71 71 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 O15245 UniProtKB Alternative sequence 354 554 . . . ID=VSP_033587;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 O15245 UniProtKB Alternative sequence 462 532 . . . ID=VSP_033588;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 O15245 UniProtKB Alternative sequence 462 506 . . . ID=VSP_033589;Note=In isoform 2. RNLGVMVCSSLCDIGGIITPFIVFRLREVWQALPLILFAVLGLLA->SGVGPACRGSDATSSRDQGGRFARDHEGRREPWEKSKAQRKHDLP;Ontology_term=ECO:0000305;evidence=ECO:0000305 O15245 UniProtKB Alternative sequence 507 554 . . . ID=VSP_033590;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 O15245 UniProtKB Natural variant 14 14 . . . ID=VAR_043319;Note=Exclusively found in the African American population%3B increased MPP(+) uptake when associated with V-408. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12719534;Dbxref=dbSNP:rs34447885,PMID:12719534 O15245 UniProtKB Natural variant 41 41 . . . ID=VAR_043320;Note=F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15499200;Dbxref=dbSNP:rs2297373,PMID:15499200 O15245 UniProtKB Natural variant 61 61 . . . ID=VAR_043321;Note=Affects transporter activity%3B reduction of MPP(+) uptake%3B reduction of serum O-isobutanoyl-(R)-carnitine levels%3B reduction of MPP(+) uptake when associated with V-408. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12439218,ECO:0000269|PubMed:12719534,ECO:0000269|PubMed:28942964;Dbxref=dbSNP:rs12208357,PMID:12439218,PMID:12719534,PMID:28942964 O15245 UniProtKB Natural variant 85 85 . . . ID=VAR_043322;Note=No changes in MPP(+) uptake%3B when associated with V-408. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12719534;Dbxref=dbSNP:rs35546288,PMID:12719534 O15245 UniProtKB Natural variant 88 88 . . . ID=VAR_043323;Note=Affects transporter activity%3B reduction of MPP(+)%2C serotonin and TEA uptake. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12439218;Dbxref=dbSNP:rs55918055,PMID:12439218 O15245 UniProtKB Natural variant 160 160 . . . ID=VAR_043324;Note=No changes in both MPP(+) and TEA uptake%3B abolishes MPP(+) uptake when associated with S-401%3B largely localized to the plasma membrane. L->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12439218,ECO:0000269|PubMed:12719534,ECO:0000269|PubMed:14697261,ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:15499200,ECO:0000269|PubMed:9260930;Dbxref=dbSNP:rs683369,PMID:12439218,PMID:12719534,PMID:14697261,PMID:14702039,PMID:15489334,PMID:15499200,PMID:9260930 O15245 UniProtKB Natural variant 189 189 . . . ID=VAR_043325;Note=No changes in MPP(+) uptake. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12719534;Dbxref=dbSNP:rs34104736,PMID:12719534 O15245 UniProtKB Natural variant 220 220 . . . ID=VAR_043326;Note=Affects transporter activity%3B reduction of MPP(+) uptake when associated with V-408. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12719534;Dbxref=dbSNP:rs36103319,PMID:12719534 O15245 UniProtKB Natural variant 283 283 . . . ID=VAR_043327;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14697261;Dbxref=dbSNP:rs4646277,PMID:14697261 O15245 UniProtKB Natural variant 287 287 . . . ID=VAR_043328;Note=R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14697261;Dbxref=dbSNP:rs4646278,PMID:14697261 O15245 UniProtKB Natural variant 341 341 . . . ID=VAR_043329;Note=Affects transporter activity%3B reduction of TEA uptake%3B reduction o MPP(+) uptake when associated with V-408%3B largely localized to the plasma membrane. P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12719534,ECO:0000269|PubMed:14697261,ECO:0000269|PubMed:15499200;Dbxref=dbSNP:rs2282143,PMID:12719534,PMID:14697261,PMID:15499200 O15245 UniProtKB Natural variant 342 342 . . . ID=VAR_043330;Note=No changes in MPP(+) uptake when associated with V-408. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12719534;Dbxref=dbSNP:rs34205214,PMID:12719534 O15245 UniProtKB Natural variant 401 401 . . . ID=VAR_043331;Note=Affects transporter activity%3B reduction of MPP(+)%2C serotonin and TEA uptake%3B no MPP(+) uptake when associated with L-160. G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12439218,ECO:0000269|PubMed:12719534;Dbxref=dbSNP:rs34130495,PMID:12439218,PMID:12719534 O15245 UniProtKB Natural variant 408 408 . . . ID=VAR_043332;Note=Does not affect transporter activity%3B no changes in MPP(+) uptake when associated with F-14%3B no changes in MPP(+) uptake when associated with F-85%3B no changes in MPP(+) uptake when associated with L-189%3B no changes in MPP(+) uptake when associated with H-342%3B no changes in MPP(+) uptake when associated with M-420 del%3B no changes in MPP(+) uptake when associated with I-440%3B no changes in MPP(+) uptake when associated with I-461%3B no changes in MPP(+) uptake when associated with M-488%3B reduction of MPP uptake when associated with C-61%3B no MPP(+) uptake when associated with V-220%3B reduction of MPP(+) uptake when associated with L-341%3B no MPP(+) uptake when associated with S-401%3B no MPP(+) uptake when associated with R-465. M->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12719534,ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15499200;Dbxref=dbSNP:rs628031,PMID:12719534,PMID:14702039,PMID:15499200 O15245 UniProtKB Natural variant 420 420 . . . ID=VAR_043333;Note=Reduction of serum O-isobutanoyl-(R)-carnitine levels%3B no change in MPP(+) uptake%3B no changes in MPP(+) uptake when associated with V-408. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12439218,ECO:0000269|PubMed:12719534,ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:28942964;Dbxref=dbSNP:rs72552763,PMID:12439218,PMID:12719534,PMID:14702039,PMID:28942964 O15245 UniProtKB Natural variant 440 440 . . . ID=VAR_043334;Note=M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12719534;Dbxref=dbSNP:rs35956182,PMID:12719534 O15245 UniProtKB Natural variant 461 461 . . . ID=VAR_043335;Note=No changes in MPP(+) uptake when associated with V-408. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12719534;Dbxref=dbSNP:rs34295611,PMID:12719534 O15245 UniProtKB Natural variant 465 465 . . . ID=VAR_043336;Note=Reduction of the localization to the basolateral membrane%3B no MPP(+) uptake when associated with V-408. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12719534,ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs34059508,PMID:12719534,PMID:14702039 O15245 UniProtKB Natural variant 488 488 . . . ID=VAR_043337;Note=No changes in MPP(+) uptake when associated with V-408. R->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12719534;Dbxref=dbSNP:rs35270274,PMID:12719534 O15245 UniProtKB Mutagenesis 24 24 . . . Note=No change in fenoterol uptake. No change in trospium uptake. No change in terbutaline uptake. I->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:35469921;Dbxref=PMID:35469921 O15245 UniProtKB Mutagenesis 28 28 . . . Note=No change in fenoterol uptake. No change in trospium uptake. No change in terbutaline uptake. L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:35469921;Dbxref=PMID:35469921 O15245 UniProtKB Mutagenesis 31 31 . . . Note=No change in fenoterol uptake. No change in trospium uptake. No change in terbutaline uptake. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:35469921;Dbxref=PMID:35469921 O15245 UniProtKB Mutagenesis 32 32 . . . Note=No change in fenoterol uptake. Decreased trospium uptake. Decreased trospium affinity. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:35469921;Dbxref=PMID:35469921 O15245 UniProtKB Mutagenesis 36 36 . . . Note=Increased fenoterol uptake. Increased fenoterol affinity. No change in trospium uptake. No change in terbutaline uptake. No change in terbutaline affinity. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:35469921;Dbxref=PMID:35469921 O15245 UniProtKB Mutagenesis 240 240 . . . Note=Decreased TEA uptake. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26979622;Dbxref=PMID:26979622 O15245 UniProtKB Mutagenesis 283 283 . . . Note=Decreased TEA uptake. P->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26979622;Dbxref=PMID:26979622 O15245 UniProtKB Mutagenesis 361 361 . . . Note=Decreased TEA uptake. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26979622;Dbxref=PMID:26979622 O15245 UniProtKB Mutagenesis 376 376 . . . Note=Decreased TEA uptake. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26979622;Dbxref=PMID:26979622 O15245 UniProtKB Mutagenesis 465 465 . . . Note=No changes in MPP(+) uptake. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12719534;Dbxref=PMID:12719534