##gff-version 3 Q8N6R0 UniProtKB Chain 1 699 . . . ID=PRO_0000050779;Note=EEF1A lysine and N-terminal methyltransferase Q8N6R0 UniProtKB Region 433 459 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8N6R0 UniProtKB Modified residue 1 1 . . . Note=N-acetylmethionine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:22814378;Dbxref=PMID:22814378 Q8N6R0 UniProtKB Modified residue 267 267 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Q8N6R0 UniProtKB Alternative sequence 1 86 . . . ID=VSP_013919;Note=In isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Q8N6R0 UniProtKB Alternative sequence 151 306 . . . ID=VSP_013920;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 Q8N6R0 UniProtKB Alternative sequence 289 505 . . . ID=VSP_013921;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Q8N6R0 UniProtKB Alternative sequence 643 699 . . . ID=VSP_013922;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10810093;Dbxref=PMID:10810093 Q8N6R0 UniProtKB Natural variant 16 16 . . . ID=VAR_064730;Note=Found in a renal cell carcinoma sample%3B somatic mutation. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21248752;Dbxref=dbSNP:rs774565178,PMID:21248752 Q8N6R0 UniProtKB Natural variant 105 105 . . . ID=VAR_034040;Note=M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs2232816,PMID:14702039 Q8N6R0 UniProtKB Natural variant 359 359 . . . ID=VAR_034041;Note=M->I;Dbxref=dbSNP:rs2232819 Q8N6R0 UniProtKB Natural variant 544 544 . . . ID=VAR_080810;Note=Protective factor against deafness%3B individuals homozygous for GAB1 deafness-associated variants have normal hearing in the presence of Q-544. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29408807;Dbxref=dbSNP:rs145666727,PMID:29408807 Q8N6R0 UniProtKB Mutagenesis 54 54 . . . Note=Decreased eEF1A lysine methyltransferase activity. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30612740;Dbxref=PMID:30612740 Q8N6R0 UniProtKB Mutagenesis 58 58 . . . Note=Loss of eEF1A lysine methyltransferase activity. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30612740;Dbxref=PMID:30612740 Q8N6R0 UniProtKB Mutagenesis 59 59 . . . Note=Loss of eEF1A lysine methyltransferase activity. N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30612740;Dbxref=PMID:30612740 Q8N6R0 UniProtKB Mutagenesis 67 67 . . . Note=Loss of eEF1A lysine methyltransferase activity. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30612740;Dbxref=PMID:30612740 Q8N6R0 UniProtKB Mutagenesis 71 71 . . . Note=Loss of eEF1A lysine methyltransferase activity. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30612740;Dbxref=PMID:30612740 Q8N6R0 UniProtKB Mutagenesis 76 76 . . . Note=Loss of eEF1A lysine methyltransferase activity. N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30612740;Dbxref=PMID:30612740 Q8N6R0 UniProtKB Mutagenesis 115 115 . . . Note=Loss of eEF1A lysine methyltransferase activity. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30612740;Dbxref=PMID:30612740 Q8N6R0 UniProtKB Mutagenesis 120 121 . . . Note=Loss of eEF1A lysine methyltransferase activity. DK->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30612740;Dbxref=PMID:30612740 Q8N6R0 UniProtKB Mutagenesis 156 156 . . . Note=Loss of eEF1A lysine methyltransferase activity. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30612740;Dbxref=PMID:30612740 Q8N6R0 UniProtKB Mutagenesis 524 524 . . . Note=Loss of activity. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30143613;Dbxref=PMID:30143613 Q8N6R0 UniProtKB Mutagenesis 551 551 . . . Note=Decreased activity. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30143613;Dbxref=PMID:30143613 Q8N6R0 UniProtKB Mutagenesis 575 575 . . . Note=Loss of activity. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30143613;Dbxref=PMID:30143613 Q8N6R0 UniProtKB Mutagenesis 576 576 . . . Note=Decreased activity. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30143613;Dbxref=PMID:30143613 Q8N6R0 UniProtKB Mutagenesis 577 577 . . . Note=Decreased activity. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30143613;Dbxref=PMID:30143613 Q8N6R0 UniProtKB Mutagenesis 578 578 . . . Note=No effect on activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30143613;Dbxref=PMID:30143613 Q8N6R0 UniProtKB Mutagenesis 647 647 . . . Note=Decreased activity. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30143613;Dbxref=PMID:30143613 Q8N6R0 UniProtKB Sequence conflict 115 115 . . . Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8N6R0 UniProtKB Sequence conflict 498 498 . . . Note=L->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8N6R0 UniProtKB Sequence conflict 514 514 . . . Note=H->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8N6R0 UniProtKB Sequence conflict 534 534 . . . Note=T->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8N6R0 UniProtKB Helix 472 479 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WCJ Q8N6R0 UniProtKB Helix 480 483 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WCJ Q8N6R0 UniProtKB Helix 487 492 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WCJ Q8N6R0 UniProtKB Beta strand 495 500 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WCJ Q8N6R0 UniProtKB Helix 506 514 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WCJ Q8N6R0 UniProtKB Beta strand 518 525 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WCJ Q8N6R0 UniProtKB Helix 527 536 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WCJ Q8N6R0 UniProtKB Beta strand 545 550 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WCJ Q8N6R0 UniProtKB Helix 552 560 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WCJ Q8N6R0 UniProtKB Helix 563 565 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WCJ Q8N6R0 UniProtKB Beta strand 569 574 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WCJ Q8N6R0 UniProtKB Beta strand 582 584 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WCJ Q8N6R0 UniProtKB Helix 590 593 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WCJ Q8N6R0 UniProtKB Helix 595 603 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WCJ Q8N6R0 UniProtKB Beta strand 605 616 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WCJ Q8N6R0 UniProtKB Helix 620 633 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WCJ Q8N6R0 UniProtKB Beta strand 636 641 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WCJ Q8N6R0 UniProtKB Beta strand 648 654 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WCJ Q8N6R0 UniProtKB Helix 656 658 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WCJ Q8N6R0 UniProtKB Helix 662 677 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WCJ Q8N6R0 UniProtKB Helix 689 692 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WCJ