##gff-version 3 P50747 UniProtKB Chain 1 726 . . . ID=PRO_0000064979;Note=Biotin--protein ligase P50747 UniProtKB Domain 463 652 . . . Note=BPL/LPL catalytic;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01067 P50747 UniProtKB Region 28 98 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P50747 UniProtKB Compositional bias 47 78 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P50747 UniProtKB Modified residue 147 147 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:18669648;Dbxref=PMID:18669648 P50747 UniProtKB Modified residue 299 299 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 P50747 UniProtKB Alternative sequence 1 1 . . . ID=VSP_061442;Note=In isoform 2. M->MLITLCYLYLWARWGRRPAELVRATVRRLRASRCSFTFCGAAAQPPGARVCLSRGGRVFCVSDSQSIEDLNKWALFLVSPFILEAEHIAFVTESIWVQSENLQRSSSSETIVKWSDCCLPLACRPGDPYRLIAEASVDNFSKLGVAFM P50747 UniProtKB Natural variant 42 42 . . . ID=VAR_035800;Note=In HLCS deficiency%3B benign%3B conserves enzymatic wild-type activity. E->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11735028,ECO:0000269|PubMed:16959974;Dbxref=dbSNP:rs61732504,PMID:11735028,PMID:16959974 P50747 UniProtKB Natural variant 183 183 . . . ID=VAR_046507;Note=In HLCS deficiency%3B has normal or low KM values for biotin (non-KM mutant). R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10590022;Dbxref=PMID:10590022 P50747 UniProtKB Natural variant 216 216 . . . ID=VAR_021218;Note=In HLCS deficiency%3B has normal or low KM values for biotin (non-KM mutant)%3B growth of patients' fibroblasts is compromised compared with normal fibroblasts%3B patients cells are not sensitive to biotin-depletion from the media%3B growth rates cannot be restored by re-administration of biotin%3B enzyme activity is severely compromised and cannot be increased by additional biotin%3B turn-over rate for the mutant protein is double that of wild-type enzyme. L->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10590022,ECO:0000269|PubMed:12124727,ECO:0000269|PubMed:18429047,ECO:0000269|PubMed:8817339;Dbxref=dbSNP:rs28934602,PMID:10590022,PMID:12124727,PMID:18429047,PMID:8817339 P50747 UniProtKB Natural variant 237 237 . . . ID=VAR_005084;Note=In HLCS deficiency%3B has normal or low KM values for biotin (non-KM mutant). L->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10590022,ECO:0000269|PubMed:11735028,ECO:0000269|PubMed:7842009,ECO:0000269|PubMed:8541348,ECO:0000269|PubMed:9396568;Dbxref=dbSNP:rs119103227,PMID:10590022,PMID:11735028,PMID:7842009,PMID:8541348,PMID:9396568 P50747 UniProtKB Natural variant 241 241 . . . ID=VAR_073074;Note=In HLCS deficiency. G->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25690727;Dbxref=PMID:25690727 P50747 UniProtKB Natural variant 333 333 . . . ID=VAR_009196;Note=In HLCS deficiency%3B <10%25 activity%3B has normal or low KM values for biotin (non-KM mutant). V->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10190325,ECO:0000269|PubMed:10590022,ECO:0000269|PubMed:11735028;Dbxref=dbSNP:rs1198548955,PMID:10190325,PMID:10590022,PMID:11735028 P50747 UniProtKB Natural variant 360 360 . . . ID=VAR_046508;Note=In HLCS deficiency%3B 22%25 activity%3B shows elevated KM values for biotin (KM mutant) compared with that of the wild-type form. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11735028;Dbxref=dbSNP:rs1230666123,PMID:11735028 P50747 UniProtKB Natural variant 363 363 . . . ID=VAR_046509;Note=In HLCS deficiency%3B has normal or low KM values for biotin (non-KM mutant). V->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10590022,ECO:0000269|PubMed:8817339;Dbxref=dbSNP:rs769499327,PMID:10590022,PMID:8817339 P50747 UniProtKB Natural variant 456 456 . . . ID=VAR_046510;Note=In HLCS deficiency%3B 0.2%25 activity. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11735028;Dbxref=dbSNP:rs781603756,PMID:11735028 P50747 UniProtKB Natural variant 462 462 . . . ID=VAR_009197;Note=In HLCS deficiency%3B <10%25 activity. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10190325;Dbxref=dbSNP:rs1256356959,PMID:10190325 P50747 UniProtKB Natural variant 470 470 . . . ID=VAR_046511;Note=In HLCS deficiency%3B 4.3%25 activity. L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11735028;Dbxref=dbSNP:rs1261821166,PMID:11735028 P50747 UniProtKB Natural variant 505 505 . . . ID=VAR_073075;Note=In HLCS deficiency. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20095979;Dbxref=dbSNP:rs1555885056,PMID:20095979 P50747 UniProtKB Natural variant 508 508 . . . ID=VAR_013009;Note=In HLCS deficiency. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11735028,ECO:0000269|PubMed:12633764,ECO:0000269|PubMed:20095979,ECO:0000269|PubMed:8817339;Dbxref=dbSNP:rs119103229,PMID:11735028,PMID:12633764,PMID:20095979,PMID:8817339 P50747 UniProtKB Natural variant 511 511 . . . ID=VAR_021219;Note=In HLCS deficiency. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12124727;Dbxref=PMID:12124727 P50747 UniProtKB Natural variant 518 518 . . . ID=VAR_046512;Note=In HLCS deficiency. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8817339;Dbxref=PMID:8817339 P50747 UniProtKB Natural variant 547 547 . . . ID=VAR_046513;Note=In HLCS deficiency%3B 3.4%25 activity. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11735028;Dbxref=PMID:11735028 P50747 UniProtKB Natural variant 550 550 . . . ID=VAR_009198;Note=In HLCS deficiency. V->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11735028,ECO:0000269|PubMed:12633764,ECO:0000269|PubMed:8817339,ECO:0000269|PubMed:9396568;Dbxref=dbSNP:rs119103231,PMID:11735028,PMID:12633764,PMID:8817339,PMID:9396568 P50747 UniProtKB Natural variant 571 571 . . . ID=VAR_009199;Note=In HLCS deficiency%3B almost no activity. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10190325,ECO:0000269|PubMed:8817339;Dbxref=dbSNP:rs119103228,PMID:10190325,PMID:8817339 P50747 UniProtKB Natural variant 581 581 . . . ID=VAR_009200;Note=In HLCS deficiency%3B <10%25 activity. G->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10190325,ECO:0000269|PubMed:10590022,ECO:0000269|PubMed:11735028,ECO:0000269|PubMed:12124727;Dbxref=dbSNP:rs119103230,PMID:10190325,PMID:10590022,PMID:11735028,PMID:12124727 P50747 UniProtKB Natural variant 582 582 . . . ID=VAR_021220;Note=In HLCS deficiency. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12124727;Dbxref=dbSNP:rs376899782,PMID:12124727 P50747 UniProtKB Natural variant 610 610 . . . ID=VAR_009201;Note=In HLCS deficiency%3B 14%25 of activity%3B shows elevated KM values for biotin (KM mutant) compared with that of the wild-type form. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10190325,ECO:0000269|PubMed:10590022,ECO:0000269|PubMed:11735028;Dbxref=PMID:10190325,PMID:10590022,PMID:11735028 P50747 UniProtKB Natural variant 615 615 . . . ID=VAR_046514;Note=In HLCS deficiency. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16134170;Dbxref=PMID:16134170 P50747 UniProtKB Natural variant 634 634 . . . ID=VAR_046515;Note=In HLCS deficiency. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12633764;Dbxref=dbSNP:rs149399432,PMID:12633764 P50747 UniProtKB Natural variant 634 634 . . . ID=VAR_046516;Note=In HLCS deficiency%3B 12%25 activity. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11735028;Dbxref=PMID:11735028 P50747 UniProtKB Natural variant 715 715 . . . ID=VAR_046517;Note=In HLCS deficiency. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16134170;Dbxref=PMID:16134170 P50747 UniProtKB Sequence conflict 209 209 . . . Note=P->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 P50747 UniProtKB Sequence conflict 463 463 . . . Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 P50747 UniProtKB Sequence conflict 558 558 . . . Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305