##gff-version 3 Q9UK59 UniProtKB Chain 1 544 . . . ID=PRO_0000250358;Note=Lariat debranching enzyme Q9UK59 UniProtKB Region 124 154 . . . Note=Lariat recognition loop;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:C4M1P9 Q9UK59 UniProtKB Region 395 463 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q9UK59 UniProtKB Region 476 544 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q9UK59 UniProtKB Compositional bias 395 412 . . . Note=Acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q9UK59 UniProtKB Compositional bias 413 425 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q9UK59 UniProtKB Compositional bias 429 439 . . . Note=Acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q9UK59 UniProtKB Compositional bias 445 463 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q9UK59 UniProtKB Compositional bias 512 522 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q9UK59 UniProtKB Binding site 8 8 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:C4M1P9 Q9UK59 UniProtKB Binding site 10 10 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:C4M1P9 Q9UK59 UniProtKB Binding site 39 39 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:C4M1P9 Q9UK59 UniProtKB Binding site 84 84 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:C4M1P9 Q9UK59 UniProtKB Binding site 174 174 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:C4M1P9 Q9UK59 UniProtKB Binding site 226 226 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:C4M1P9 Q9UK59 UniProtKB Binding site 228 228 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:C4M1P9 Q9UK59 UniProtKB Modified residue 128 128 . . . Note=N6-acetyllysine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:19608861;Dbxref=PMID:19608861 Q9UK59 UniProtKB Modified residue 464 464 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Q9UK59 UniProtKB Modified residue 474 474 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:18669648;Dbxref=PMID:18669648 Q9UK59 UniProtKB Modified residue 478 478 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:18669648;Dbxref=PMID:18669648 Q9UK59 UniProtKB Modified residue 479 479 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:18669648;Dbxref=PMID:18669648 Q9UK59 UniProtKB Modified residue 485 485 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q923B1 Q9UK59 UniProtKB Modified residue 499 499 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q923B1 Q9UK59 UniProtKB Modified residue 514 514 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:17081983,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:21406692,ECO:0007744|PubMed:23186163;Dbxref=PMID:17081983,PMID:20068231,PMID:21406692,PMID:23186163 Q9UK59 UniProtKB Alternative sequence 1 232 . . . ID=VSP_020631;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Q9UK59 UniProtKB Alternative sequence 233 237 . . . ID=VSP_020632;Note=In isoform 2. ALMQH->MIHIV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Q9UK59 UniProtKB Natural variant 13 13 . . . ID=VAR_086073;Note=In IIAE11%3B decreased protein abundance%3B decreased RNA lariat debranching enzyme activity%3B requires 2 nucleotide substitutions. L->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29474921;Dbxref=dbSNP:rs2107907650,PMID:29474921 Q9UK59 UniProtKB Natural variant 17 17 . . . ID=VAR_086074;Note=In IIAE11%3B decreased protein abundance%3B decreased RNA lariat debranching enzyme activity. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29474921;Dbxref=dbSNP:rs2107907632,PMID:29474921 Q9UK59 UniProtKB Natural variant 67 67 . . . ID=VAR_088992;Note=In XGIP%3B likely pathogenic%3B results in decreased function in lariat intron processing and lariant accumulation in homozygous patient cells%3B severely reduced protein abundance in homozygous patient cells. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:37656279;Dbxref=PMID:37656279 Q9UK59 UniProtKB Natural variant 120 120 . . . ID=VAR_086075;Note=In IIAE11%3B decreased protein abundance%3B decreased RNA lariat debranching enzyme activity. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29474921;Dbxref=dbSNP:rs2107906060,PMID:29474921 Q9UK59 UniProtKB Natural variant 197 544 . . . ID=VAR_086076;Note=In IIAE11%3B loss of protein expression. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29474921;Dbxref=PMID:29474921 Q9UK59 UniProtKB Mutagenesis 85 85 . . . Note=No effect on protein abundance. Loss of RNA lariat debranching enzyme activity. H->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29474921;Dbxref=PMID:29474921 Q9UK59 UniProtKB Sequence conflict 308 308 . . . Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q9UK59 UniProtKB Sequence conflict 496 496 . . . Note=T->L;Ontology_term=ECO:0000305;evidence=ECO:0000305