##gff-version 3 P29120 UniProtKB Signal peptide 1 27 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 P29120 UniProtKB Propeptide 28 110 . . . ID=PRO_0000027057;Ontology_term=ECO:0000255;evidence=ECO:0000255 P29120 UniProtKB Chain 111 753 . . . ID=PRO_0000027058;Note=Neuroendocrine convertase 1 P29120 UniProtKB Domain 129 450 . . . Note=Peptidase S8;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01240 P29120 UniProtKB Domain 460 597 . . . Note=P/Homo B;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01173 P29120 UniProtKB Region 596 662 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P29120 UniProtKB Compositional bias 596 616 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P29120 UniProtKB Compositional bias 618 632 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P29120 UniProtKB Compositional bias 633 652 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P29120 UniProtKB Active site 167 167 . . . Note=Charge relay system;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01240 P29120 UniProtKB Active site 208 208 . . . Note=Charge relay system;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01240 P29120 UniProtKB Active site 382 382 . . . Note=Charge relay system;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01240 P29120 UniProtKB Glycosylation 173 173 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P29120 UniProtKB Glycosylation 401 401 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P29120 UniProtKB Glycosylation 632 632 . . . Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23234360;Dbxref=PMID:23234360 P29120 UniProtKB Disulfide bond 225 374 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P29120 UniProtKB Disulfide bond 317 347 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P29120 UniProtKB Disulfide bond 467 494 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P29120 UniProtKB Alternative sequence 1 59 . . . ID=VSP_046100;Note=In isoform 2. MERRAWSLQCTAFVLFCAWCALNSAKAKRQFVNEWAAEIPGGPEAASAIAEELGYDLLG->MGKGSISFLFFS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 P29120 UniProtKB Natural variant 80 80 . . . ID=VAR_013906;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8666140;Dbxref=dbSNP:rs1799904,PMID:8666140 P29120 UniProtKB Natural variant 213 213 . . . ID=VAR_022777;Note=In PC1 deficiency. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14617756;Dbxref=dbSNP:rs137852823,PMID:14617756 P29120 UniProtKB Natural variant 221 221 . . . ID=VAR_013907;Note=Risk factor for obesity%3B induces a 10.4%25 reduction of activity (P %3D 0.03) when compared to the wild-type enzyme. N->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10391209,ECO:0000269|PubMed:18604207;Dbxref=dbSNP:rs6232,PMID:10391209,PMID:18604207 P29120 UniProtKB Natural variant 307 307 . . . ID=VAR_055002;Note=In PC1 deficiency%3B in vitro the mutation markedly impairs the catalytic activity of the enzyme%3B however intracellular trafficking of this mutant enzyme appears normal%3B retains some autocatalytic activity even though it is completely inactive on other substrates. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17595246;Dbxref=dbSNP:rs137852824,PMID:17595246 P29120 UniProtKB Natural variant 483 483 . . . ID=VAR_022778;Note=In PC1 deficiency%3B prevents processing of pro-PCSK1 and leads to its retention in the endoplasmic reticulum. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9207799;Dbxref=dbSNP:rs137852821,PMID:9207799 P29120 UniProtKB Natural variant 665 665 . . . ID=VAR_013908;Note=Q->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10391209,ECO:0000269|PubMed:17595246,ECO:0000269|PubMed:8666140;Dbxref=dbSNP:rs6234,PMID:10391209,PMID:17595246,PMID:8666140 P29120 UniProtKB Natural variant 690 690 . . . ID=VAR_013909;Note=S->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10391209,ECO:0000269|PubMed:17595246;Dbxref=dbSNP:rs6235,PMID:10391209,PMID:17595246 P29120 UniProtKB Sequence conflict 357 357 . . . Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 P29120 UniProtKB Sequence conflict 370 371 . . . Note=LH->VD;Ontology_term=ECO:0000305;evidence=ECO:0000305 P29120 UniProtKB Sequence conflict 617 617 . . . Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305