##gff-version 3 P97313 UniProtKB Chain 1 4128 . . . ID=PRO_0000225599;Note=DNA-dependent protein kinase catalytic subunit P97313 UniProtKB Repeat 288 323 . . . Note=HEAT 1 P97313 UniProtKB Repeat 1001 1037 . . . Note=HEAT 2 P97313 UniProtKB Repeat 1050 1086 . . . Note=HEAT 3 P97313 UniProtKB Repeat 1720 1753 . . . Note=TPR 1 P97313 UniProtKB Domain 2907 3539 . . . Note=FAT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00534 P97313 UniProtKB Repeat 2921 2954 . . . Note=TPR 2 P97313 UniProtKB Repeat 2956 2983 . . . Note=TPR 3 P97313 UniProtKB Domain 3722 4053 . . . Note=PI3K/PI4K catalytic;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00269 P97313 UniProtKB Domain 4096 4128 . . . Note=FATC;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00534,ECO:0000255|PROSITE-ProRule:PRU00535 P97313 UniProtKB Region 1501 1536 . . . Note=Interaction with C1D;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Region 1501 1536 . . . Note=Leucine-zipper P97313 UniProtKB Region 2049 2071 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P97313 UniProtKB Region 2432 3213 . . . Note=KIP-binding;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Region 2614 2635 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P97313 UniProtKB Region 2738 2766 . . . Note=May split the end of the DNA molecule%2C with the two strands separating around the region;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Region 3728 3734 . . . Note=G-loop;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00269 P97313 UniProtKB Region 3919 3927 . . . Note=Catalytic loop;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00269 P97313 UniProtKB Region 3939 3964 . . . Note=Activation loop;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00269 P97313 UniProtKB Site 2017 2018 . . . Note=Cleavage%3B by caspase-3;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Modified residue 117 117 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Modified residue 511 511 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Modified residue 686 686 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Modified residue 840 840 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Modified residue 891 891 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Modified residue 1062 1062 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Modified residue 1206 1206 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Modified residue 1967 1967 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Modified residue 2053 2053 . . . Note=Phosphoserine%3B by autocatalysis;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Modified residue 2255 2255 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Modified residue 2531 2531 . . . Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Modified residue 2605 2605 . . . Note=Phosphothreonine%3B by autocatalysis;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Modified residue 2608 2608 . . . Note=Phosphoserine%3B by autocatalysis;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Modified residue 2634 2634 . . . Note=Phosphothreonine%3B by autocatalysis;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Modified residue 2643 2643 . . . Note=Phosphothreonine%3B by autocatalysis;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Modified residue 3206 3206 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Modified residue 3241 3241 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Modified residue 3260 3260 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Modified residue 3638 3638 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Modified residue 3642 3642 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Modified residue 3731 3731 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Modified residue 3821 3821 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Modified residue 4026 4026 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P78527 P97313 UniProtKB Alternative sequence 842 852 . . . ID=VSP_017361;Note=In isoform 2. DEALSLEEIRI->VRNPFLILYLK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16141072;Dbxref=PMID:16141072 P97313 UniProtKB Alternative sequence 853 4128 . . . ID=VSP_017362;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16141072;Dbxref=PMID:16141072 P97313 UniProtKB Natural variant 2140 2140 . . . Note=R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:9122213,ECO:0000269|PubMed:9339376,ECO:0000269|PubMed:9582343;Dbxref=PMID:9122213,PMID:9339376,PMID:9582343 P97313 UniProtKB Natural variant 3191 3191 . . . Note=L->P P97313 UniProtKB Natural variant 4046 4128 . . . Note=In SCID. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9122213;Dbxref=PMID:9122213 P97313 UniProtKB Mutagenesis 2026 2026 . . . Note=Normal erythrocyte and platelet numbers%3B when associated with A-2038 and 2050-A--A-2053. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32103174;Dbxref=PMID:32103174 P97313 UniProtKB Mutagenesis 2038 2038 . . . Note=Normal erythrocyte and platelet numbers%3B when associated with A-2026 and 2050-A--A-2053. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32103174;Dbxref=PMID:32103174 P97313 UniProtKB Mutagenesis 2050 2053 . . . Note=Normal erythrocyte and platelet numbers%3B when associated with A-2026 and A-2038. SYSS->AYAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32103174;Dbxref=PMID:32103174 P97313 UniProtKB Mutagenesis 2605 2605 . . . Note=Lethal at 4-week-old%3B impaired hematopoiesis due to a decrease in hematopoietic stem and progenitor cells which causes a severe reduction in the numbers of erythrocytes%2C platelets%2C lymphocytes and neutrophils%3B reduced protein synthesis in bone marrow and fetal erythrocyte precursors%3B normal V(D)J recombination in B-cells%3B when associated with 2614-A--A-2616%2C A-2634 and A-2643. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32103174;Dbxref=PMID:32103174 P97313 UniProtKB Mutagenesis 2614 2616 . . . Note=Lethal at 4-week-old%3B impaired hematopoiesis due to a decrease in hematopoietic stem and progenitor cells which causes a severe reduction in the numbers of erythrocytes%2C platelets%2C lymphocytes and neutrophils%3B reduced protein synthesis in bone marrow and fetal erythrocyte precursors%3B normal V(D)J recombination in B-cells%3B when associated with A-2605%2C A-2634 and A-2643. TQT->AQA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32103174;Dbxref=PMID:32103174 P97313 UniProtKB Mutagenesis 2634 2634 . . . Note=Lethal at 4-week-old%3B impaired hematopoiesis due to a decrease in hematopoietic stem and progenitor cells which causes a severe reduction in the numbers of erythrocytes%2C platelets%2C lymphocytes and neutrophils%3B reduced protein synthesis in bone marrow and fetal erythrocyte precursors%3B normal V(D)J recombination in B-cells%3B when associated with A-2605%2C 2614-A--A-2616 and A-2643. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32103174;Dbxref=PMID:32103174 P97313 UniProtKB Mutagenesis 2643 2643 . . . Note=Lethal at 4-week-old%3B impaired hematopoiesis due to a decrease in hematopoietic stem and progenitor cells which causes a severe reduction in the numbers of erythrocytes%2C platelets%2C lymphocytes and neutrophils%3B reduced protein synthesis in bone marrow and fetal erythrocyte precursors%3B normal V(D)J recombination in B-cells%3B when associated with A-2605%2C 2614-A--A-2616 and A-2634. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32103174;Dbxref=PMID:32103174 P97313 UniProtKB Mutagenesis 3922 3922 . . . Note=Probable loss of catalytic activity. Severe reduction in the number of hematopoietic stem and progenitor cells in fetal liver. Slight reduction in translation during erythrocyte development in fetal liver. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32103174;Dbxref=PMID:32103174 P97313 UniProtKB Sequence conflict 3300 3300 . . . Note=M->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 P97313 UniProtKB Sequence conflict 3844 3844 . . . Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305