##gff-version 3 Q05932 UniProtKB Transit peptide 1 42 . . . Note=Mitochondrion;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:22814378;Dbxref=PMID:22814378 Q05932 UniProtKB Chain 43 587 . . . ID=PRO_0000010097;Note=Folylpolyglutamate synthase%2C mitochondrial Q05932 UniProtKB Binding site 106 109 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P08192 Q05932 UniProtKB Binding site 130 130 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P08192 Q05932 UniProtKB Binding site 200 200 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P08192 Q05932 UniProtKB Binding site 228 228 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P08192 Q05932 UniProtKB Binding site 363 363 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P08192 Q05932 UniProtKB Binding site 377 377 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P08192 Q05932 UniProtKB Modified residue 43 43 . . . Note=N-acetylmethionine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:22814378;Dbxref=PMID:22814378 Q05932 UniProtKB Modified residue 539 539 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Q05932 UniProtKB Alternative sequence 1 42 . . . ID=VSP_018733;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Q05932 UniProtKB Alternative sequence 43 50 . . . ID=VSP_041959;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Q05932 UniProtKB Alternative sequence 168 193 . . . ID=VSP_041960;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Q05932 UniProtKB Natural variant 13 13 . . . ID=VAR_066016;Note=F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17875718;Dbxref=dbSNP:rs1034635821,dbSNP:rs759336102,PMID:17875718 Q05932 UniProtKB Natural variant 22 22 . . . ID=VAR_059305;Note=I->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:7721888;Dbxref=dbSNP:rs10760502,PMID:14702039,PMID:15489334,PMID:7721888 Q05932 UniProtKB Natural variant 437 437 . . . ID=VAR_043929;Note=V->D;Dbxref=dbSNP:rs12686275 Q05932 UniProtKB Natural variant 466 466 . . . ID=VAR_066017;Note=Expression is reduced by 1.86-fold%3B Vmax with methotrexate as substrate is significantly reduced resulting in significantly decreased intrinsic clearance of methotrexate%3B Km of glutamic acid is increased 3.5-fold and apparent Vmax of it is reduced 3.4-fold%3B reaction velocity at 100 nmol/L of pemetrexed is significantly reduced and folic acid dose-response curve is shifted to the right which corresponds to 4.32-fold increase in the EC(50) for folic acid%3B IC(50) of methotrexate is 1.84-fold higher and accumulation of a lower ratio of long-chain methotrexate polyglutamates to short-chain polyglutamates is detected%3B all results are for isoform 2 variant in comparison to the wild-type of it. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17875718;Dbxref=dbSNP:rs35789560,PMID:17875718 Q05932 UniProtKB Natural variant 489 489 . . . ID=VAR_043930;Note=A->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:17875718;Dbxref=dbSNP:rs17855900,PMID:15489334,PMID:17875718 Q05932 UniProtKB Natural variant 499 499 . . . ID=VAR_066018;Note=Expression reduced by 2.11-fold%3B Vmax with methotrexate as substrate is significantly reduced resulting in significantly decreased intrinsic clearance of methotrexate%3B apparent Vmax for glutamic acid is reduced 5-fold%3B reaction velocity at 100 nmol/L of pemetrexed is significantly reduced and folic acid dose-response curve is shifted to the right which corresponds to 4.28-fold increase in the EC(50) for folic acid%3B IC(50) of methotrexate is 1.64-fold higher and accumulation of a lower ratio of long-chain methotrexate polyglutamates to short-chain polyglutamates is detected%3B all results are for isoform 2 variant in comparison to the wild-type of it. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17875718;Dbxref=dbSNP:rs200314440,PMID:17875718 Q05932 UniProtKB Natural variant 528 528 . . . ID=VAR_043931;Note=S->T;Dbxref=dbSNP:rs34354111 Q05932 UniProtKB Sequence conflict 101 101 . . . Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305