##gff-version 3 P51790 UniProtKB Chain 1 818 . . . ID=PRO_0000094438;Note=H(+)/Cl(-) exchange transporter 3 P51790 UniProtKB Topological domain 1 125 . . . Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P35523 P51790 UniProtKB Transmembrane 126 163 . . . Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P35523 P51790 UniProtKB Transmembrane 209 232 . . . Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P35523 P51790 UniProtKB Intramembrane 241 248 . . . Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P35523 P51790 UniProtKB Transmembrane 258 276 . . . Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P35523 P51790 UniProtKB Transmembrane 282 301 . . . Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P35523 P51790 UniProtKB Intramembrane 313 325 . . . Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P35523 P51790 UniProtKB Intramembrane 329 337 . . . Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P35523 P51790 UniProtKB Transmembrane 349 367 . . . Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P35523 P51790 UniProtKB Transmembrane 391 416 . . . Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P35523 P51790 UniProtKB Transmembrane 423 443 . . . Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P35523 P51790 UniProtKB Transmembrane 500 520 . . . Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P35523 P51790 UniProtKB Transmembrane 525 544 . . . Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P35523 P51790 UniProtKB Intramembrane 572 586 . . . Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P35523 P51790 UniProtKB Intramembrane 590 601 . . . Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P35523 P51790 UniProtKB Intramembrane 602 605 . . . Note=Note%3DLoop between two helices;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P35523 P51790 UniProtKB Transmembrane 606 624 . . . Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P35523 P51790 UniProtKB Topological domain 625 818 . . . Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P35523 P51790 UniProtKB Domain 658 722 . . . Note=CBS 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00703 P51790 UniProtKB Domain 755 812 . . . Note=CBS 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00703 P51790 UniProtKB Motif 28 29 . . . Note=Di-leucine internalization motif%3B mediates targeting to late endosome and lysosome membranes;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P51791 P51790 UniProtKB Motif 46 47 . . . Note=Di-leucine internalization motif%3B mediates targeting to late endosome and lysosome membranes;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P51791 P51790 UniProtKB Motif 71 75 . . . Note=Di-leucine internalization motif%3B mediates targeting to late endosome and lysosome membranes;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P51791 P51790 UniProtKB Motif 238 242 . . . Note=Selectivity filter part_1;Ontology_term=ECO:0000250;evidence=ECO:0000250 P51790 UniProtKB Motif 280 284 . . . Note=Selectivity filter part_2;Ontology_term=ECO:0000250;evidence=ECO:0000250 P51790 UniProtKB Motif 525 529 . . . Note=Selectivity filter part_3;Ontology_term=ECO:0000250;evidence=ECO:0000250 P51790 UniProtKB Binding site 239 239 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P51790 UniProtKB Binding site 527 527 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P51790 UniProtKB Binding site 630 630 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P51790 UniProtKB Binding site 689 691 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P51790 UniProtKB Binding site 796 799 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P51790 UniProtKB Site 282 282 . . . Note=Mediates proton transfer from the outer aqueous phase to the interior of the protein%3B involved in linking H(+) and Cl(-) transport;Ontology_term=ECO:0000250;evidence=ECO:0000250 P51790 UniProtKB Site 339 339 . . . Note=Mediates proton transfer from the protein to the inner aqueous phase;Ontology_term=ECO:0000250;evidence=ECO:0000250 P51790 UniProtKB Glycosylation 177 177 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P51790 UniProtKB Glycosylation 451 451 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P51790 UniProtKB Glycosylation 479 479 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P51790 UniProtKB Alternative sequence 1 53 . . . ID=VSP_054415;Note=In isoform 4. MESEQLFHRGYYRNSYNSITSASSDEELLDGAGVIMDFQTSEDDNLLDGDTAV->MVTLQLGESHYVVQAGLQLLGSSNPPALASQVAEIT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 P51790 UniProtKB Alternative sequence 312 338 . . . ID=VSP_045105;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 P51790 UniProtKB Alternative sequence 790 818 . . . ID=VSP_016073;Note=In isoform 2. RLLGIITKKDILRHMAQTANQDPASIMFN->IVLGIITKKNILEHLEQLKQHVEPLAPPWHYNKKRYPPAYGPDGKPRPRFNNVQLNLTDEEREETEEEVYLLNSTTL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11967229;Dbxref=PMID:11967229 P51790 UniProtKB Natural variant 85 85 . . . ID=VAR_086219;Note=In NEDHYBA. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34186028;Dbxref=PMID:34186028 P51790 UniProtKB Natural variant 252 252 . . . ID=VAR_086220;Note=In NEDHYBA. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34186028;Dbxref=dbSNP:rs1732397227,PMID:34186028 P51790 UniProtKB Natural variant 324 324 . . . ID=VAR_086221;Note=In NEDHYBA. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34186028;Dbxref=PMID:34186028 P51790 UniProtKB Natural variant 413 413 . . . ID=VAR_086222;Note=In NEDHYBA%3B uncertain significance. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34186028;Dbxref=dbSNP:rs1190062987,PMID:34186028 P51790 UniProtKB Natural variant 453 453 . . . ID=VAR_086223;Note=In NEDHYBA. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34186028;Dbxref=PMID:34186028 P51790 UniProtKB Natural variant 570 570 . . . ID=VAR_086224;Note=In NEDHYBA. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34186028;Dbxref=dbSNP:rs1732900321,PMID:34186028 P51790 UniProtKB Natural variant 607 607 . . . ID=VAR_086225;Note=In NEDHYBA. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34186028;Dbxref=PMID:34186028 P51790 UniProtKB Natural variant 772 772 . . . ID=VAR_086226;Note=In NEDHYBA. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34186028;Dbxref=PMID:34186028 P51790 UniProtKB Mutagenesis 280 280 . . . Note=Changes channel selectivity from I(-)>Cl(-) to Cl(-)>I(-). G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11274166;Dbxref=PMID:11274166 P51790 UniProtKB Sequence conflict 209 209 . . . Note=M->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 P51790 UniProtKB Sequence conflict 551 551 . . . Note=Y->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 P51790 UniProtKB Sequence conflict 570 570 . . . Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 P51790 UniProtKB Sequence conflict 646 646 . . . Note=E->EEF;Ontology_term=ECO:0000305;evidence=ECO:0000305 P51790 UniProtKB Sequence conflict 723 723 . . . Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305