##gff-version 3 Q92887 UniProtKB Chain 1 1545 . . . ID=PRO_0000093356;Note=ATP-binding cassette sub-family C member 2 Q92887 UniProtKB Topological domain 1 27 . . . Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 Q92887 UniProtKB Transmembrane 28 48 . . . Note=Helical%3B Name%3D1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 Q92887 UniProtKB Topological domain 49 68 . . . Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250 Q92887 UniProtKB Transmembrane 69 89 . . . Note=Helical%3B Name%3D2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 Q92887 UniProtKB Topological domain 90 93 . . . Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 Q92887 UniProtKB Transmembrane 94 114 . . . Note=Helical%3B Name%3D3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 Q92887 UniProtKB Topological domain 115 126 . . . Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250 Q92887 UniProtKB Transmembrane 127 147 . . . Note=Helical%3B Name%3D4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 Q92887 UniProtKB Topological domain 148 165 . . . Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 Q92887 UniProtKB Transmembrane 166 186 . . . Note=Helical%3B Name%3D5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 Q92887 UniProtKB Topological domain 187 313 . . . Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250 Q92887 UniProtKB Transmembrane 314 334 . . . Note=Helical%3B Name%3D6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 Q92887 UniProtKB Topological domain 335 360 . . . Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 Q92887 UniProtKB Transmembrane 361 381 . . . Note=Helical%3B Name%3D7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 Q92887 UniProtKB Topological domain 382 437 . . . Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250 Q92887 UniProtKB Transmembrane 438 458 . . . Note=Helical%3B Name%3D8;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 Q92887 UniProtKB Topological domain 459 461 . . . Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 Q92887 UniProtKB Transmembrane 462 482 . . . Note=Helical%3B Name%3D9;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 Q92887 UniProtKB Topological domain 483 544 . . . Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250 Q92887 UniProtKB Transmembrane 545 565 . . . Note=Helical%3B Name%3D10;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 Q92887 UniProtKB Topological domain 566 587 . . . Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 Q92887 UniProtKB Transmembrane 588 608 . . . Note=Helical%3B Name%3D11;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 Q92887 UniProtKB Topological domain 609 971 . . . Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250 Q92887 UniProtKB Transmembrane 972 992 . . . Note=Helical%3B Name%3D12;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 Q92887 UniProtKB Topological domain 993 1033 . . . Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 Q92887 UniProtKB Transmembrane 1034 1054 . . . Note=Helical%3B Name%3D13;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 Q92887 UniProtKB Topological domain 1055 1097 . . . Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250 Q92887 UniProtKB Transmembrane 1098 1118 . . . Note=Helical%3B Name%3D14;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 Q92887 UniProtKB Topological domain 1119 1119 . . . Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 Q92887 UniProtKB Transmembrane 1120 1140 . . . Note=Helical%3B Name%3D15;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 Q92887 UniProtKB Topological domain 1141 1211 . . . Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250 Q92887 UniProtKB Transmembrane 1212 1232 . . . Note=Helical%3B Name%3D16;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 Q92887 UniProtKB Topological domain 1233 1234 . . . Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 Q92887 UniProtKB Transmembrane 1235 1255 . . . Note=Helical%3B Name%3D17;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 Q92887 UniProtKB Topological domain 1256 1545 . . . Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250 Q92887 UniProtKB Domain 322 605 . . . Note=ABC transmembrane type-1 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 Q92887 UniProtKB Domain 637 861 . . . Note=ABC transporter 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00434 Q92887 UniProtKB Domain 979 1264 . . . Note=ABC transmembrane type-1 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 Q92887 UniProtKB Domain 1300 1534 . . . Note=ABC transporter 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00434 Q92887 UniProtKB Region 253 284 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q92887 UniProtKB Compositional bias 262 284 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q92887 UniProtKB Binding site 671 678 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00434 Q92887 UniProtKB Binding site 1334 1341 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00434 Q92887 UniProtKB Modified residue 281 281 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q63120 Q92887 UniProtKB Modified residue 283 283 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:18669648;Dbxref=PMID:18669648 Q92887 UniProtKB Modified residue 878 878 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:24275569;Dbxref=PMID:18669648,PMID:24275569 Q92887 UniProtKB Modified residue 926 926 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Q92887 UniProtKB Modified residue 930 930 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Q92887 UniProtKB Modified residue 938 938 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Q92887 UniProtKB Modified residue 1438 1438 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Q92887 UniProtKB Glycosylation 7 7 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q92887 UniProtKB Glycosylation 12 12 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q92887 UniProtKB Glycosylation 1011 1011 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q92887 UniProtKB Natural variant 39 39 . . . ID=VAR_047152;Note=Y->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10464142,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:22290738,ECO:0000269|PubMed:8662992,ECO:0000269|PubMed:8797578,ECO:0000269|Ref.2,ECO:0000269|Ref.7;Dbxref=dbSNP:rs927344,PMID:10464142,PMID:15489334,PMID:22290738,PMID:8662992,PMID:8797578 Q92887 UniProtKB Natural variant 246 246 . . . ID=VAR_029113;Note=M->L;Dbxref=dbSNP:rs17222744 Q92887 UniProtKB Natural variant 281 281 . . . ID=VAR_013324;Note=S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11477083;Dbxref=dbSNP:rs56131651,PMID:11477083 Q92887 UniProtKB Natural variant 333 333 . . . ID=VAR_020226;Note=Decreased expression%3B altered subcellular localization%3B altered transporter activity. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22290738;Dbxref=dbSNP:rs17222674,PMID:22290738 Q92887 UniProtKB Natural variant 353 353 . . . ID=VAR_020227;Note=Altered transporter activity. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22290738;Dbxref=dbSNP:rs7080681,PMID:22290738 Q92887 UniProtKB Natural variant 417 417 . . . ID=VAR_013325;Note=V->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11266082,ECO:0000269|PubMed:11477083,ECO:0000269|PubMed:25336012;Dbxref=dbSNP:rs2273697,PMID:11266082,PMID:11477083,PMID:25336012 Q92887 UniProtKB Natural variant 486 486 . . . ID=VAR_070607;Note=Altered transporter activity. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22290738;Dbxref=dbSNP:rs17222589,PMID:22290738 Q92887 UniProtKB Natural variant 495 495 . . . ID=VAR_029115;Note=K->E;Dbxref=dbSNP:rs17222561 Q92887 UniProtKB Natural variant 562 562 . . . ID=VAR_029116;Note=F->L;Dbxref=dbSNP:rs17216233 Q92887 UniProtKB Natural variant 670 670 . . . ID=VAR_020228;Note=I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22290738;Dbxref=dbSNP:rs17222632,PMID:22290738 Q92887 UniProtKB Natural variant 768 768 . . . ID=VAR_000099;Note=In DJS. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10053008,ECO:0000269|PubMed:11266082,ECO:0000269|PubMed:25336012,ECO:0000269|PubMed:9425227;Dbxref=dbSNP:rs56199535,PMID:10053008,PMID:11266082,PMID:25336012,PMID:9425227 Q92887 UniProtKB Natural variant 789 789 . . . ID=VAR_013326;Note=S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11266082;Dbxref=dbSNP:rs56220353,PMID:11266082 Q92887 UniProtKB Natural variant 849 849 . . . ID=VAR_020229;Note=L->R;Dbxref=dbSNP:rs17222617 Q92887 UniProtKB Natural variant 921 921 . . . ID=VAR_070608;Note=Altered transporter activity. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22290738;Dbxref=dbSNP:rs41318029,PMID:22290738 Q92887 UniProtKB Natural variant 982 982 . . . ID=VAR_029117;Note=I->V;Dbxref=dbSNP:rs17222554 Q92887 UniProtKB Natural variant 1036 1036 . . . ID=VAR_020230;Note=No effect on transporter activity. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22290738;Dbxref=dbSNP:rs45441199,PMID:22290738 Q92887 UniProtKB Natural variant 1063 1063 . . . ID=VAR_029118;Note=N->S;Dbxref=dbSNP:rs17222540 Q92887 UniProtKB Natural variant 1150 1150 . . . ID=VAR_013327;Note=In DJS%3B protein is properly localized at the plasma membrane%2C but transporter activity is impaired. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11477083;Dbxref=dbSNP:rs72558200,PMID:11477083 Q92887 UniProtKB Natural variant 1173 1173 . . . ID=VAR_013328;Note=In DJS%3B decreased expression and mislocation to the endoplasmic reticulum. I->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11477083,ECO:0000269|PubMed:22290738;Dbxref=dbSNP:rs72558201,PMID:11477083,PMID:22290738 Q92887 UniProtKB Natural variant 1174 1174 . . . ID=VAR_070609;Note=Decreased expression%3B altered subcellular localization%3B decreased transporter activity. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22290738;Dbxref=dbSNP:rs139188247,PMID:22290738 Q92887 UniProtKB Natural variant 1181 1181 . . . ID=VAR_020231;Note=Decreased expression. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22290738;Dbxref=dbSNP:rs8187692,PMID:22290738 Q92887 UniProtKB Natural variant 1188 1188 . . . ID=VAR_020232;Note=V->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22290738,ECO:0000269|Ref.2;Dbxref=dbSNP:rs17222723,PMID:22290738 Q92887 UniProtKB Natural variant 1244 1244 . . . ID=VAR_070610;Note=Decreased transporter activity. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22290738;Dbxref=dbSNP:rs757141905,PMID:22290738 Q92887 UniProtKB Natural variant 1273 1273 . . . ID=VAR_024360;Note=T->A;Dbxref=dbSNP:rs8187699 Q92887 UniProtKB Natural variant 1291 1291 . . . ID=VAR_020233;Note=Altered transporter activity. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22290738;Dbxref=dbSNP:rs17216317,PMID:22290738 Q92887 UniProtKB Natural variant 1382 1382 . . . ID=VAR_010756;Note=In DJS. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10053008;Dbxref=dbSNP:rs72558202,PMID:10053008 Q92887 UniProtKB Natural variant 1392 1393 . . . ID=VAR_013329;Note=In DJS%3B impaired transport from the endoplasmic reticulum to the apical plasma membrane associated with impaired maturation. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10464142,ECO:0000269|PubMed:11093739;Dbxref=PMID:10464142,PMID:11093739 Q92887 UniProtKB Natural variant 1450 1450 . . . ID=VAR_013330;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11266082;Dbxref=dbSNP:rs56296335,PMID:11266082 Q92887 UniProtKB Natural variant 1515 1515 . . . ID=VAR_020234;Note=C->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22290738,ECO:0000269|Ref.2;Dbxref=dbSNP:rs8187710,PMID:22290738 Q92887 UniProtKB Mutagenesis 1254 1254 . . . Note=Fails to transport methotrexate%2C leukotriene C4 and estradiol glucuronide. W->A%2CC;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11500505;Dbxref=PMID:11500505 Q92887 UniProtKB Mutagenesis 1254 1254 . . . Note=Fails to transport methotrexate and leukotriene C4. Does not affect estradiol glucuronide transport. W->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11500505;Dbxref=PMID:11500505 Q92887 UniProtKB Mutagenesis 1254 1254 . . . Note=Fails to transport methotrexate%3B reduces leukotriene C4 transport. Does not affect estradiol glucuronide transport. W->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11500505;Dbxref=PMID:11500505 Q92887 UniProtKB Sequence conflict 1430 1430 . . . Note=V->G;Ontology_term=ECO:0000305;evidence=ECO:0000305