##gff-version 3 Q4U2R8 UniProtKB Chain 1 563 . . . ID=PRO_0000324166;Note=Solute carrier family 22 member 6 Q4U2R8 UniProtKB Topological domain 1 9 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q4U2R8 UniProtKB Transmembrane 10 30 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q4U2R8 UniProtKB Topological domain 31 135 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q4U2R8 UniProtKB Transmembrane 136 156 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q4U2R8 UniProtKB Topological domain 157 164 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q4U2R8 UniProtKB Transmembrane 165 187 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q4U2R8 UniProtKB Topological domain 188 190 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q4U2R8 UniProtKB Transmembrane 191 213 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q4U2R8 UniProtKB Topological domain 214 224 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q4U2R8 UniProtKB Transmembrane 225 245 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q4U2R8 UniProtKB Topological domain 246 248 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q4U2R8 UniProtKB Transmembrane 249 269 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q4U2R8 UniProtKB Topological domain 270 337 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q4U2R8 UniProtKB Transmembrane 338 358 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q4U2R8 UniProtKB Topological domain 359 368 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q4U2R8 UniProtKB Transmembrane 369 389 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q4U2R8 UniProtKB Topological domain 390 395 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q4U2R8 UniProtKB Transmembrane 396 416 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q4U2R8 UniProtKB Topological domain 417 425 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q4U2R8 UniProtKB Transmembrane 426 446 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q4U2R8 UniProtKB Topological domain 447 455 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q4U2R8 UniProtKB Transmembrane 456 475 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q4U2R8 UniProtKB Topological domain 476 484 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q4U2R8 UniProtKB Transmembrane 485 505 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q4U2R8 UniProtKB Topological domain 506 563 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q4U2R8 UniProtKB Region 525 563 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q4U2R8 UniProtKB Site 230 230 . . . Note=Important for interaction with cidofovir Q4U2R8 UniProtKB Site 438 438 . . . Note=Important for interaction with cidofovir and PAH Q4U2R8 UniProtKB Glycosylation 39 39 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14749323;Dbxref=PMID:14749323 Q4U2R8 UniProtKB Glycosylation 56 56 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14749323;Dbxref=PMID:14749323 Q4U2R8 UniProtKB Glycosylation 92 92 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14749323;Dbxref=PMID:14749323 Q4U2R8 UniProtKB Glycosylation 97 97 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14749323;Dbxref=PMID:14749323 Q4U2R8 UniProtKB Glycosylation 113 113 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10462545;Dbxref=PMID:10462545 Q4U2R8 UniProtKB Alternative sequence 455 498 . . . ID=VSP_032168;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10964714;Dbxref=PMID:10964714 Q4U2R8 UniProtKB Alternative sequence 523 535 . . . ID=VSP_032169;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10049739,ECO:0000303|PubMed:10462545,ECO:0000303|PubMed:10964714,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9762842,ECO:0000303|PubMed:9887087,ECO:0000303|PubMed:9950961;Dbxref=PMID:10049739,PMID:10462545,PMID:10964714,PMID:15489334,PMID:9762842,PMID:9887087,PMID:9950961 Q4U2R8 UniProtKB Natural variant 7 7 . . . ID=VAR_039682;Note=L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16164626;Dbxref=dbSNP:rs1415632329,PMID:16164626 Q4U2R8 UniProtKB Natural variant 50 50 . . . ID=VAR_039683;Note=Lower Vmax%3B increase in substrate affinity and increase in the affinity for the nucleoside phosphonate analogs cidofovir%2C adefovir and tenofovir. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15914676,ECO:0000269|PubMed:16164626;Dbxref=dbSNP:rs11568626,PMID:15914676,PMID:16164626 Q4U2R8 UniProtKB Natural variant 104 104 . . . ID=VAR_047878;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.7;Dbxref=dbSNP:rs11568627 Q4U2R8 UniProtKB Natural variant 293 293 . . . ID=VAR_039684;Note=Increase in substrate affinity. R->W;Dbxref=dbSNP:rs45607933 Q4U2R8 UniProtKB Mutagenesis 30 30 . . . Note=Complete loss of PAH transport activity. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15145940;Dbxref=PMID:15145940 Q4U2R8 UniProtKB Mutagenesis 36 36 . . . Note=Complete loss of PAH transport activity. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15145940;Dbxref=PMID:15145940 Q4U2R8 UniProtKB Mutagenesis 39 39 . . . Note=Complete loss of PAH transport activity. N->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14749323;Dbxref=PMID:14749323 Q4U2R8 UniProtKB Mutagenesis 230 230 . . . Note=Loss of membrane protein expression and little uptake of cidofovir. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17038320;Dbxref=PMID:17038320 Q4U2R8 UniProtKB Mutagenesis 431 431 . . . Note=Decrease in the level of membrane protein expression and 70 %25 loss of PAH uptake. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17038320;Dbxref=PMID:17038320 Q4U2R8 UniProtKB Mutagenesis 438 438 . . . Note=Decrease in the level of membrane protein expression%2C 70 %25 loss of PAH uptake%2C increased affinity for cidofovir%2C lower Vmax for PAH%2C and lower Km and Vmax for cidofovir. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17038320;Dbxref=PMID:17038320 Q4U2R8 UniProtKB Sequence conflict 14 14 . . . Note=G->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q4U2R8 UniProtKB Sequence conflict 563 563 . . . Note=L->F;Ontology_term=ECO:0000305;evidence=ECO:0000305