##gff-version 3 Q8NB90 UniProtKB Chain 1 893 . . . ID=PRO_0000330583;Note=ATPase family gene 2 protein homolog A Q8NB90 UniProtKB Region 1 26 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8NB90 UniProtKB Binding site 394 401 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P32794 Q8NB90 UniProtKB Binding site 668 675 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P32794 Q8NB90 UniProtKB Modified residue 272 272 . . . Note=Phosphothreonine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:20068231;Dbxref=PMID:20068231 Q8NB90 UniProtKB Modified residue 274 274 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:20068231;Dbxref=PMID:20068231 Q8NB90 UniProtKB Modified residue 279 279 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:20068231;Dbxref=PMID:20068231 Q8NB90 UniProtKB Cross-link 859 859 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Q8NB90 UniProtKB Alternative sequence 694 696 . . . ID=VSP_033046;Note=In isoform 3. GPE->VGC;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Q8NB90 UniProtKB Alternative sequence 697 893 . . . ID=VSP_033047;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Q8NB90 UniProtKB Alternative sequence 781 790 . . . ID=VSP_033048;Note=In isoform 2. ALMRPGRIDR->VPPSQTFLLL;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 Q8NB90 UniProtKB Alternative sequence 791 893 . . . ID=VSP_033049;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 Q8NB90 UniProtKB Natural variant 27 27 . . . ID=VAR_042703;Note=C->S;Dbxref=dbSNP:rs35430470 Q8NB90 UniProtKB Natural variant 84 84 . . . ID=VAR_075775;Note=In NEDHSB. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26299366;Dbxref=dbSNP:rs745858366,PMID:26299366 Q8NB90 UniProtKB Natural variant 90 90 . . . ID=VAR_075776;Note=In NEDHSB. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26299366;Dbxref=dbSNP:rs796051893,PMID:26299366 Q8NB90 UniProtKB Natural variant 100 100 . . . ID=VAR_075777;Note=In NEDHSB. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26299366;Dbxref=dbSNP:rs796051895,PMID:26299366 Q8NB90 UniProtKB Natural variant 132 893 . . . ID=VAR_086543;Note=In NEDHSB. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34360601;Dbxref=PMID:34360601 Q8NB90 UniProtKB Natural variant 330 330 . . . ID=VAR_075778;Note=In NEDHSB%3B impaired maturation of pre-60S ribosome. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:26299366,ECO:0000269|PubMed:28293831,ECO:0000269|PubMed:34360601,ECO:0000269|PubMed:35354024;Dbxref=PMID:26299366,PMID:28293831,PMID:34360601,PMID:35354024 Q8NB90 UniProtKB Natural variant 448 448 . . . ID=VAR_075779;Note=In NEDHSB. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26299366;Dbxref=dbSNP:rs766034355,PMID:26299366 Q8NB90 UniProtKB Natural variant 488 488 . . . ID=VAR_075780;Note=In NEDHSB. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26299366;Dbxref=PMID:26299366 Q8NB90 UniProtKB Natural variant 529 529 . . . ID=VAR_075781;Note=In NEDHSB. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26299366;Dbxref=dbSNP:rs567175477,PMID:26299366 Q8NB90 UniProtKB Natural variant 626 626 . . . ID=VAR_075782;Note=In NEDHSB. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26299366;Dbxref=dbSNP:rs1553969639,PMID:26299366 Q8NB90 UniProtKB Natural variant 628 628 . . . ID=VAR_075783;Note=In NEDHSB%3B impaired maturation of pre-60S ribosome. D->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:26299366,ECO:0000269|PubMed:35354024;Dbxref=dbSNP:rs768528444,PMID:26299366,PMID:35354024 Q8NB90 UniProtKB Natural variant 673 673 . . . ID=VAR_042704;Note=S->Y;Dbxref=dbSNP:rs35133326 Q8NB90 UniProtKB Natural variant 784 784 . . . ID=VAR_075784;Note=In NEDHSB. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26299366;Dbxref=dbSNP:rs796051894,PMID:26299366 Q8NB90 UniProtKB Natural variant 844 844 . . . ID=VAR_075785;Note=In NEDHSB. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26299366;Dbxref=dbSNP:rs796051892,PMID:26299366 Q8NB90 UniProtKB Sequence conflict 55 55 . . . Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8NB90 UniProtKB Sequence conflict 66 66 . . . Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8NB90 UniProtKB Sequence conflict 210 210 . . . Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8NB90 UniProtKB Sequence conflict 568 568 . . . Note=C->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8NB90 UniProtKB Sequence conflict 603 603 . . . Note=L->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8NB90 UniProtKB Sequence conflict 614 614 . . . Note=M->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8NB90 UniProtKB Sequence conflict 695 695 . . . Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8NB90 UniProtKB Sequence conflict 851 851 . . . Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8NB90 UniProtKB Sequence conflict 891 891 . . . Note=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305