##gff-version 3 Q92581 UniProtKB Chain 1 701 . . . ID=PRO_0000052362;Note=Sodium/hydrogen exchanger 6 Q92581 UniProtKB Transmembrane 71 91 . . . Note=Helical%3B Name%3D1;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q92581 UniProtKB Transmembrane 103 123 . . . Note=Helical%3B Name%3D2;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q92581 UniProtKB Transmembrane 176 196 . . . Note=Helical%3B Name%3D3;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q92581 UniProtKB Transmembrane 211 231 . . . Note=Helical%3B Name%3D4;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q92581 UniProtKB Transmembrane 252 272 . . . Note=Helical%3B Name%3D5;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q92581 UniProtKB Transmembrane 278 298 . . . Note=Helical%3B Name%3D6;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q92581 UniProtKB Transmembrane 324 344 . . . Note=Helical%3B Name%3D7;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q92581 UniProtKB Transmembrane 372 392 . . . Note=Helical%3B Name%3D8;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q92581 UniProtKB Transmembrane 414 434 . . . Note=Helical%3B Name%3D9;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q92581 UniProtKB Transmembrane 436 456 . . . Note=Helical%3B Name%3D10;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q92581 UniProtKB Transmembrane 479 499 . . . Note=Helical%3B Name%3D11;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q92581 UniProtKB Transmembrane 515 535 . . . Note=Helical%3B Name%3D12;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q92581 UniProtKB Glycosylation 128 128 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218 Q92581 UniProtKB Cross-link 475 475 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17370265;Dbxref=PMID:17370265 Q92581 UniProtKB Alternative sequence 1 52 . . . ID=VSP_044868;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Q92581 UniProtKB Alternative sequence 144 175 . . . ID=VSP_061774;Note=In isoform 1. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:9039502,ECO:0000303|PubMed:9507001;Dbxref=PMID:9039502,PMID:9507001 Q92581 UniProtKB Natural variant 9 9 . . . ID=VAR_087516;Note=Does not affect post-translational maturation%3B does not affect membrane sorting%3B does not affect pH homeostasis in recycling endosomes%3B does not affect cargo trafficking. A->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:31676550,ECO:0000269|PubMed:32277048;Dbxref=PMID:31676550,PMID:32277048 Q92581 UniProtKB Natural variant 188 188 . . . ID=VAR_087517;Note=In MRXSCH%3B reduces oligosaccharide maturation%3B decreases protein stability%3B partially accumulated in the ER%3B impairs acidification of endosomes%3B reduces localization to recycling endosomes%3B impairs trafficking to plasma membrane%3B reduces uptake of recycling endosomal cargo. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:25044251,ECO:0000269|PubMed:32277048;Dbxref=PMID:25044251,PMID:32277048 Q92581 UniProtKB Natural variant 218 218 . . . ID=VAR_083536;Note=In MRXSCH%3B decreases protein stability%3B increased ubiquitination%3B impairs acidification of endosomes%3B reduces localization to recycling endosomes%3B impairs trafficking to plasma membrane%3B reduces uptake of recycling endosomal cargo. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30296617;Dbxref=PMID:30296617 Q92581 UniProtKB Natural variant 383 383 . . . ID=VAR_087518;Note=In MRXSCH%3B reduces oligosaccharide maturation%3B decreases protein stability%3B partially accumulated in the ER%3B impairs acidification of endosomes%3B reduces localization to recycling endosomes%3B impairs trafficking to plasma membrane%3B reduces uptake of recycling endosomal cargo. G->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:25044251,ECO:0000269|PubMed:32277048;Dbxref=PMID:25044251,PMID:32277048 Q92581 UniProtKB Natural variant 547 701 . . . ID=VAR_087519;Note=In MRXSCH%3B reduces oligosaccharide maturation%3B largely retained in the ER%3B strongly reduces localization to recycling endosomes%3B strongly impairs trafficking to plasma membrane%3B strongly reduces uptake of recycling endosomal cargo. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24123876,ECO:0000269|PubMed:25044251,ECO:0000269|PubMed:32277048;Dbxref=PMID:24123876,PMID:25044251,PMID:32277048 Q92581 UniProtKB Natural variant 568 568 . . . ID=VAR_087520;Note=Does not affect post-translational maturation%3B does not affect membrane sorting%2C does not affect pH homeostasis in recycling endosomes%2C does not affect cargo trafficking. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32277048;Dbxref=PMID:32277048 Q92581 UniProtKB Natural variant 570 701 . . . ID=VAR_087521;Note=In MRXSCH%3B reduces oligosaccharide maturation%3B largely retained in the ER%3B strongly reduces localization to recycling endosomes%3B strongly impairs trafficking to plasma membrane%3B strongly reduces uptake of recycling endosomal cargo. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:25044251,ECO:0000269|PubMed:32277048;Dbxref=PMID:25044251,PMID:32277048 Q92581 UniProtKB Sequence conflict 20 20 . . . Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q92581 UniProtKB Sequence conflict 92 92 . . . Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q92581 UniProtKB Sequence conflict 144 144 . . . Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q92581 UniProtKB Sequence conflict 339 339 . . . Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q92581 UniProtKB Sequence conflict 404 404 . . . Note=T->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q92581 UniProtKB Sequence conflict 405 405 . . . Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q92581 UniProtKB Sequence conflict 666 666 . . . Note=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305