##gff-version 3 Q8TEK3 UniProtKB Chain 1 1537 . . . ID=PRO_0000186089;Note=Histone-lysine N-methyltransferase%2C H3 lysine-79 specific Q8TEK3 UniProtKB Domain 16 330 . . . Note=DOT1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00902 Q8TEK3 UniProtKB Region 334 467 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8TEK3 UniProtKB Region 391 416 . . . Note=Required for interaction with nucleosomes and DNA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12628190;Dbxref=PMID:12628190 Q8TEK3 UniProtKB Region 785 853 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8TEK3 UniProtKB Region 893 912 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8TEK3 UniProtKB Region 957 1128 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8TEK3 UniProtKB Region 1145 1243 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8TEK3 UniProtKB Region 1334 1410 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8TEK3 UniProtKB Compositional bias 334 349 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8TEK3 UniProtKB Compositional bias 390 415 . . . Note=Basic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8TEK3 UniProtKB Compositional bias 416 431 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8TEK3 UniProtKB Compositional bias 433 467 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8TEK3 UniProtKB Compositional bias 809 823 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8TEK3 UniProtKB Compositional bias 962 991 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8TEK3 UniProtKB Compositional bias 998 1012 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8TEK3 UniProtKB Compositional bias 1051 1068 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8TEK3 UniProtKB Binding site 136 139 . . . . Q8TEK3 UniProtKB Binding site 159 168 . . . . Q8TEK3 UniProtKB Binding site 186 186 . . . . Q8TEK3 UniProtKB Binding site 222 223 . . . . Q8TEK3 UniProtKB Modified residue 297 297 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Q8TEK3 UniProtKB Modified residue 374 374 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:21406692,ECO:0007744|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163 Q8TEK3 UniProtKB Modified residue 448 448 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Q8TEK3 UniProtKB Modified residue 471 471 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:20068231;Dbxref=PMID:20068231 Q8TEK3 UniProtKB Modified residue 480 480 . . . Note=Phosphothreonine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:20068231;Dbxref=PMID:20068231 Q8TEK3 UniProtKB Modified residue 775 775 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 Q8TEK3 UniProtKB Modified residue 786 786 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Q8TEK3 UniProtKB Modified residue 826 826 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Q8TEK3 UniProtKB Modified residue 834 834 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163 Q8TEK3 UniProtKB Modified residue 900 900 . . . Note=Phosphothreonine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:23186163;Dbxref=PMID:19690332,PMID:23186163 Q8TEK3 UniProtKB Modified residue 902 902 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:21406692,ECO:0007744|PubMed:23186163;Dbxref=PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163 Q8TEK3 UniProtKB Modified residue 984 984 . . . Note=Phosphothreonine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Q8TEK3 UniProtKB Modified residue 997 997 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Q8TEK3 UniProtKB Modified residue 1001 1001 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18220336,ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:23186163;Dbxref=PMID:18220336,PMID:18669648,PMID:19690332,PMID:20068231,PMID:23186163 Q8TEK3 UniProtKB Modified residue 1009 1009 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Q8TEK3 UniProtKB Modified residue 1035 1035 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163 Q8TEK3 UniProtKB Modified residue 1093 1093 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Q8TEK3 UniProtKB Modified residue 1104 1104 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Q8TEK3 UniProtKB Modified residue 1213 1213 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163 Q8TEK3 UniProtKB Modified residue 1246 1246 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Q8TEK3 UniProtKB Alternative sequence 1537 1537 . . . ID=VSP_059795;Note=In isoform 2. N->VVFNHAVPSASAHPFGARVGRGAACGSATLGPSPLQAAASASASSFQAPASVETRPPPPPPPPPPPLPPPAHLGRSPAGPPVLHAPPPPNAALPPPPTLLASNPEPALLQSLASLPPNQAFLPPTSAASLPPANASLSIKLTSLPHKGARPSFTVHHQPLPRLALAQAAPGIPQASATGPSAVWVSLGMPPPYAAHLSGVKPR Q8TEK3 UniProtKB Natural variant 45 45 . . . ID=VAR_088679;Note=Found in a patient with developmental delay and intellectual disability%3B uncertain significance. C->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:37827158;Dbxref=PMID:37827158 Q8TEK3 UniProtKB Natural variant 100 100 . . . ID=VAR_088680;Note=Found in a patient with developmental delay and intellectual disability%3B likely pathogenic. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:37827158;Dbxref=dbSNP:rs781606489,PMID:37827158 Q8TEK3 UniProtKB Natural variant 123 123 . . . ID=VAR_088681;Note=Found in patients with developmental delay and intellectual disability%3B likely pathogenic%3B causes an almost 4-fold increase in H3K79 methylation in vitro. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:37827158;Dbxref=PMID:37827158 Q8TEK3 UniProtKB Natural variant 129 129 . . . ID=VAR_088682;Note=Found in a patient with developmental delay and intellectual disability%3B likely pathogenic. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:37827158;Dbxref=PMID:37827158 Q8TEK3 UniProtKB Natural variant 292 292 . . . ID=VAR_088683;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:37827158;Dbxref=PMID:37827158 Q8TEK3 UniProtKB Natural variant 451 451 . . . ID=VAR_088684;Note=D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:37827158;Dbxref=dbSNP:rs377185393,PMID:37827158 Q8TEK3 UniProtKB Natural variant 626 626 . . . ID=VAR_088685;Note=Found in a patient with developmental delay and intellectual disability%3B likely pathogenic. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:37827158;Dbxref=PMID:37827158 Q8TEK3 UniProtKB Natural variant 726 726 . . . ID=VAR_014287;Note=L->M;Dbxref=dbSNP:rs880525 Q8TEK3 UniProtKB Natural variant 853 853 . . . ID=VAR_088686;Note=Found in a patient with developmental delay and intellectual disability%3B likely pathogenic%3B slightly increases H3K79 methylation in vitro. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:37827158;Dbxref=PMID:37827158 Q8TEK3 UniProtKB Natural variant 1025 1025 . . . ID=VAR_088687;Note=Found in a patient with developmental delay and intellectual disability%3B uncertain significance. K->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:37827158;Dbxref=PMID:37827158 Q8TEK3 UniProtKB Natural variant 1386 1386 . . . ID=VAR_014288;Note=G->S;Dbxref=dbSNP:rs3815308 Q8TEK3 UniProtKB Natural variant 1418 1418 . . . ID=VAR_014289;Note=V->L;Dbxref=dbSNP:rs2302061 Q8TEK3 UniProtKB Mutagenesis 163 165 . . . Note=Abolishes methyltransferase activity. GSG->RCR;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12123582;Dbxref=PMID:12123582 Q8TEK3 UniProtKB Mutagenesis 241 241 . . . Note=Loss of activity. N->A%2CD;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12628190;Dbxref=PMID:12628190 Q8TEK3 UniProtKB Mutagenesis 312 312 . . . Note=Loss of activity. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12628190;Dbxref=PMID:12628190 Q8TEK3 UniProtKB Mutagenesis 312 312 . . . Note=No effect. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12628190;Dbxref=PMID:12628190 Q8TEK3 UniProtKB Sequence conflict 210 210 . . . Note=G->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8TEK3 UniProtKB Sequence conflict 454 467 . . . Note=RSPHSPFYQLPPSV->TLRTPSGSPRRTKL;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8TEK3 UniProtKB Sequence conflict 464 464 . . . Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8TEK3 UniProtKB Beta strand 6 9 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Beta strand 12 16 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7XCT Q8TEK3 UniProtKB Beta strand 18 23 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Beta strand 26 28 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Helix 33 47 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Helix 49 54 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Helix 57 60 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Helix 68 90 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Beta strand 91 93 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3UWP Q8TEK3 UniProtKB Beta strand 98 100 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4ER7 Q8TEK3 UniProtKB Helix 104 118 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Helix 122 125 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Helix 126 128 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4EQZ Q8TEK3 UniProtKB Beta strand 129 131 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Helix 133 135 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Turn 136 139 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Helix 140 151 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Beta strand 155 157 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6O96 Q8TEK3 UniProtKB Beta strand 158 163 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Helix 168 176 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Beta strand 180 186 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Helix 189 209 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Beta strand 216 220 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Helix 226 233 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Beta strand 236 240 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Turn 243 245 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3QOW Q8TEK3 UniProtKB Helix 247 257 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Beta strand 265 270 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Beta strand 281 283 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3UWP Q8TEK3 UniProtKB Helix 287 289 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Beta strand 290 296 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Turn 298 300 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5DTM Q8TEK3 UniProtKB Beta strand 301 303 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5MW4 Q8TEK3 UniProtKB Beta strand 307 309 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4ER7 Q8TEK3 UniProtKB Beta strand 312 317 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Helix 320 330 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6TE6 Q8TEK3 UniProtKB Helix 332 342 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3UWP Q8TEK3 UniProtKB Helix 611 648 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7EDP Q8TEK3 UniProtKB Beta strand 880 882 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2MV7 Q8TEK3 UniProtKB Turn 885 887 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2MV7