##gff-version 3 Q11203 UniProtKB Chain 1 375 . . . ID=PRO_0000149266;Note=CMP-N-acetylneuraminate-beta-1%2C4-galactoside alpha-2%2C3-sialyltransferase Q11203 UniProtKB Topological domain 1 8 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q11203 UniProtKB Transmembrane 9 28 . . . Note=Helical%3B Signal-anchor for type II membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q11203 UniProtKB Topological domain 29 375 . . . Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q11203 UniProtKB Glycosylation 80 80 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q11203 UniProtKB Glycosylation 171 171 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q11203 UniProtKB Disulfide bond 160 314 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 Q11203 UniProtKB Alternative sequence 40 73 . . . ID=VSP_010595;Note=In isoform E3+32. NSVVLSFDSAGQTLGSEYDRLGFLLNLDSKLPAE->SSPSQHPCSWMTPFASGLESGSSCRLLGSKVKTI;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 Q11203 UniProtKB Alternative sequence 40 56 . . . ID=VSP_010594;Note=In isoform C1%2C isoform C4%2C isoform C5%2C isoform C7%2C isoform C8%2C isoform C9%2C isoform C11 and isoform C12. NSVVLSFDSAGQTLGSE->K;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|Ref.2,ECO:0000303|Ref.3 Q11203 UniProtKB Alternative sequence 40 55 . . . ID=VSP_010593;Note=In isoform D5 and isoform D2+26. NSVVLSFDSAGQTLGS->SKYSHSSSPQEKPVA;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|Ref.2,ECO:0000303|Ref.3 Q11203 UniProtKB Alternative sequence 40 43 . . . ID=VSP_010592;Note=In isoform E1. NSVV->SLLN;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 Q11203 UniProtKB Alternative sequence 40 40 . . . ID=VSP_010591;Note=In isoform A1%2C isoform A7 and isoform A8. N->SKYSHSSSPQEKPVAD;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 Q11203 UniProtKB Alternative sequence 44 375 . . . ID=VSP_010596;Note=In isoform E1. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 Q11203 UniProtKB Alternative sequence 70 70 . . . ID=VSP_010597;Note=In isoform A8%2C isoform B8 and isoform C8. L->LSPRTLCTVVFGLDCILESPGEPKKLLMPASHPLEILKSLSEDTAFALGFLKLPR;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 Q11203 UniProtKB Alternative sequence 71 101 . . . ID=VSP_010598;Note=In isoform B3 and isoform C11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|Ref.2,ECO:0000303|Ref.3 Q11203 UniProtKB Alternative sequence 74 375 . . . ID=VSP_010599;Note=In isoform E3+32. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 Q11203 UniProtKB Alternative sequence 102 121 . . . ID=VSP_010602;Note=In isoform B5+173. FSKPAPMFLDDSFRKWARIR->AKRNGAWRQKHIQAYVLRQR;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 Q11203 UniProtKB Alternative sequence 102 117 . . . ID=VSP_010601;Note=In isoform C12. FSKPAPMFLDDSFRKW->PGRTISSERKSFCGSW;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 Q11203 UniProtKB Alternative sequence 102 115 . . . ID=VSP_010600;Note=In isoform B4+173. FSKPAPMFLDDSFR->EKVRTFMAWLAWYG;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 Q11203 UniProtKB Alternative sequence 116 375 . . . ID=VSP_010603;Note=In isoform B4+173. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 Q11203 UniProtKB Alternative sequence 118 375 . . . ID=VSP_010604;Note=In isoform C12. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 Q11203 UniProtKB Alternative sequence 122 375 . . . ID=VSP_010605;Note=In isoform B5+173. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 Q11203 UniProtKB Alternative sequence 133 155 . . . ID=VSP_010607;Note=In isoform A7%2C isoform B7 and isoform C7. DNLIKAILSVTKEYRLTPALDSL->VLDAQYPARERVSAEAGESSRHH;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 Q11203 UniProtKB Alternative sequence 133 151 . . . ID=VSP_010606;Note=In isoform B10. DNLIKAILSVTKEYRLTPA->ECIGWLLEICGHSSAQGAP;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 Q11203 UniProtKB Alternative sequence 152 375 . . . ID=VSP_010608;Note=In isoform B10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 Q11203 UniProtKB Alternative sequence 156 375 . . . ID=VSP_010609;Note=In isoform A7%2C isoform B7 and isoform C7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 Q11203 UniProtKB Alternative sequence 186 202 . . . ID=VSP_010610;Note=In isoform C5 and isoform D5. RLNSAPVKGFEKDVGSK->SPGRTISSERKSFCGSW;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 Q11203 UniProtKB Alternative sequence 187 375 . . . ID=VSP_010613;Note=In isoform B5+26 and isoform D2+26. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 Q11203 UniProtKB Alternative sequence 187 244 . . . ID=VSP_010612;Note=In isoform C9. LNSAPVKGFEKDVGSKTTLRITYPEGAMQRPEQYERDSLFVLAGFKWQDFKWLKYIVY->VHRMASGNLWPLECPRSPLRFESSTHISSRRPPSPSLACPSTMASWAGGTSLPLAVWQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 Q11203 UniProtKB Alternative sequence 187 189 . . . ID=VSP_010611;Note=In isoform B1+32. LNS->PRL;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 Q11203 UniProtKB Alternative sequence 190 375 . . . ID=VSP_010614;Note=In isoform B1+32. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 Q11203 UniProtKB Alternative sequence 203 375 . . . ID=VSP_010615;Note=In isoform C5 and isoform D5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 Q11203 UniProtKB Alternative sequence 245 375 . . . ID=VSP_010616;Note=In isoform C9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 Q11203 UniProtKB Alternative sequence 249 346 . . . ID=VSP_010618;Note=In isoform B4%2C isoform C4 and isoform C11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|Ref.2,ECO:0000303|Ref.3 Q11203 UniProtKB Alternative sequence 249 278 . . . ID=VSP_010617;Note=In isoform B1-90. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 Q11203 UniProtKB Natural variant 13 13 . . . ID=VAR_066594;Note=In MRT12%3B most of the mutant protein is improperly localized to the endoplasmic reticulum preventing the protein from interacting with its substrates in the Golgi and resulting in a loss-of-function. A->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21907012;Dbxref=dbSNP:rs387906943,PMID:21907012 Q11203 UniProtKB Natural variant 320 320 . . . ID=VAR_069319;Note=In DEE15. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23252400;Dbxref=PMID:23252400 Q11203 UniProtKB Natural variant 370 370 . . . ID=VAR_066595;Note=In MRT12%3B the mutant protein is improperly localized to the endoplasmic reticulum preventing the protein from interacting with its substrates in the Golgi and resulting in a loss-of-function%3B shows a complete lack of enzyme activity%3B secretion of the mutant protein is dramatically reduced compared to wild-type. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21907012;Dbxref=PMID:21907012 Q11203 UniProtKB Sequence conflict 38 38 . . . Note=D->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q11203 UniProtKB Sequence conflict 94 94 . . . Note=L->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q11203 UniProtKB Sequence conflict 123 123 . . . Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q11203 UniProtKB Sequence conflict 351 351 . . . Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305