##gff-version 3 P15918 UniProtKB Chain 1 1043 . . . ID=PRO_0000056004;Note=V(D)J recombination-activating protein 1 P15918 UniProtKB Zinc finger 293 332 . . . Note=RING-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00175 P15918 UniProtKB Zinc finger 354 383 . . . Note=RAG1-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01101 P15918 UniProtKB DNA binding 392 459 . . . Note=NBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00820 P15918 UniProtKB Region 1 288 . . . Note=Interaction with importin alpha-1 P15918 UniProtKB Region 40 80 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P15918 UniProtKB Compositional bias 40 56 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P15918 UniProtKB Binding site 269 269 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P15918 UniProtKB Binding site 273 273 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P15918 UniProtKB Binding site 293 293 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P15918 UniProtKB Binding site 296 296 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P15918 UniProtKB Binding site 296 296 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P15918 UniProtKB Binding site 298 298 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P15918 UniProtKB Binding site 308 308 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P15918 UniProtKB Binding site 310 310 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P15918 UniProtKB Binding site 313 313 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P15918 UniProtKB Binding site 316 316 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P15918 UniProtKB Binding site 328 328 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P15918 UniProtKB Binding site 331 331 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P15918 UniProtKB Binding site 358 358 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01101 P15918 UniProtKB Binding site 363 363 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01101 P15918 UniProtKB Binding site 375 375 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01101 P15918 UniProtKB Binding site 379 379 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01101 P15918 UniProtKB Binding site 603 603 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P15918 UniProtKB Binding site 711 711 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P15918 UniProtKB Binding site 965 965 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P15918 UniProtKB Site 896 896 . . . Note=Essential for DNA hairpin formation%2C participates in base-stacking interactions near the cleavage site;Ontology_term=ECO:0000250;evidence=ECO:0000250 P15918 UniProtKB Cross-link 234 234 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P15919 P15918 UniProtKB Alternative sequence 931 1043 . . . ID=VSP_055883;Note=In isoform 2. YEGKITNYFHKTLAHVPEIIERDGSIGAWASEGNESGNKLFRRFRKMNARQSKCYEMEDVLKHHWLYTSKYLQKFMNAHNALKTSGFTMNPQASLGDPLGIEDSLESQDSMEF->N;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 P15918 UniProtKB Natural variant 156 156 . . . ID=VAR_007800;Note=No effect on recombination activity. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8810255;Dbxref=dbSNP:rs1801203,PMID:8810255 P15918 UniProtKB Natural variant 169 169 . . . ID=VAR_029260;Note=S->L;Dbxref=dbSNP:rs4151027 P15918 UniProtKB Natural variant 244 244 . . . ID=VAR_007801;Note=R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8844221;Dbxref=dbSNP:rs199474683,PMID:8844221 P15918 UniProtKB Natural variant 247 247 . . . ID=VAR_029261;Note=R->H;Dbxref=dbSNP:rs4151029 P15918 UniProtKB Natural variant 249 249 . . . ID=VAR_007802;Note=H->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:2598259,ECO:0000269|PubMed:8844221;Dbxref=dbSNP:rs3740955,PMID:15489334,PMID:2598259,PMID:8844221 P15918 UniProtKB Natural variant 302 302 . . . ID=VAR_020113;Note=D->E;Dbxref=dbSNP:rs4151030 P15918 UniProtKB Natural variant 314 314 . . . ID=VAR_045957;Note=In CHIDG%3B reduced recombination activity. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18463379;Dbxref=dbSNP:rs121918568,PMID:18463379 P15918 UniProtKB Natural variant 328 328 . . . ID=VAR_025971;Note=In OS. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11133745;Dbxref=dbSNP:rs121918571,PMID:11133745 P15918 UniProtKB Natural variant 358 358 . . . ID=VAR_078305;Note=Found in a patient with common variable immunodeficiency with B cell deficiency%3B decreased recombinant activity. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24996264;Dbxref=PMID:24996264 P15918 UniProtKB Natural variant 375 375 . . . ID=VAR_078306;Note=Found in a patient with T and B cell immunodeficiency and progressive multifocal leukoencephalopathy%3B uncertain significance. H->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28216420;Dbxref=dbSNP:rs773272902,PMID:28216420 P15918 UniProtKB Natural variant 396 396 . . . ID=VAR_008886;Note=In OS. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10606976,ECO:0000269|PubMed:9630231;Dbxref=dbSNP:rs104894289,PMID:10606976,PMID:9630231 P15918 UniProtKB Natural variant 396 396 . . . ID=VAR_008887;Note=In OS. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19912631,ECO:0000269|PubMed:9630231;Dbxref=dbSNP:rs104894291,PMID:19912631,PMID:9630231 P15918 UniProtKB Natural variant 396 396 . . . ID=VAR_025972;Note=In OS. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11133745;Dbxref=dbSNP:rs104894291,PMID:11133745 P15918 UniProtKB Natural variant 401 401 . . . ID=VAR_025973;Note=In OS. S->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11133745,ECO:0000269|PubMed:19912631;Dbxref=dbSNP:rs199474682,PMID:11133745,PMID:19912631 P15918 UniProtKB Natural variant 410 410 . . . ID=VAR_025974;Note=In OS%3B found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11133745;Dbxref=dbSNP:rs199474684,PMID:11133745 P15918 UniProtKB Natural variant 429 429 . . . ID=VAR_008888;Note=In OS. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9630231;Dbxref=dbSNP:rs104894292,PMID:9630231 P15918 UniProtKB Natural variant 433 433 . . . ID=VAR_025975;Note=In OS and T(-)B(-)NK(+) SCID%3B found in a patient with an atypical form of severe combined immunodeficiency/Omenn syndrome. V->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11133745,ECO:0000269|PubMed:19912631;Dbxref=dbSNP:rs199474679,PMID:11133745,PMID:19912631 P15918 UniProtKB Natural variant 435 435 . . . ID=VAR_025976;Note=In OS. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11133745;Dbxref=dbSNP:rs141524540,PMID:11133745 P15918 UniProtKB Natural variant 444 444 . . . ID=VAR_025977;Note=In OS%3B found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11133745;Dbxref=dbSNP:rs199474685,PMID:11133745 P15918 UniProtKB Natural variant 449 449 . . . ID=VAR_029262;Note=R->K;Dbxref=dbSNP:rs4151031 P15918 UniProtKB Natural variant 454 454 . . . ID=VAR_067274;Note=In OS. L->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21624848;Dbxref=dbSNP:rs199474677,PMID:21624848 P15918 UniProtKB Natural variant 474 474 . . . ID=VAR_067275;Note=Found in a patient with relatively late onset of infections and isolated T-cell lymphopenia%3B likely pathogenic%3B also found in a patient with T and B cell immunodeficiency and progressive multifocal leukoencephalopathy%3B decreases recombination activity%3B no effect on protein abundance. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20956421,ECO:0000269|PubMed:28216420;Dbxref=dbSNP:rs199474678,PMID:20956421,PMID:28216420 P15918 UniProtKB Natural variant 474 474 . . . ID=VAR_025978;Note=In OS%3B found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11133745;Dbxref=dbSNP:rs199474686,PMID:11133745 P15918 UniProtKB Natural variant 507 507 . . . ID=VAR_025979;Note=In OS%3B also found in CHIDG when associated in cis with T-507. R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11133745,ECO:0000269|PubMed:18463379;Dbxref=dbSNP:rs104894298,PMID:11133745,PMID:18463379 P15918 UniProtKB Natural variant 522 522 . . . ID=VAR_025980;Note=In OS%3B also found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome. W->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11133745,ECO:0000269|PubMed:25516070;Dbxref=dbSNP:rs193922461,PMID:11133745,PMID:25516070 P15918 UniProtKB Natural variant 525 525 . . . ID=VAR_029263;Note=P->S;Dbxref=dbSNP:rs4151032 P15918 UniProtKB Natural variant 559 559 . . . ID=VAR_025981;Note=In T(-)B(-)NK(+) SCID and OS%3B also found in a patient with an atypical form of severe combined immunodeficiency/Omenn syndrome%3B decreased recombination activity. R->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11133745,ECO:0000269|PubMed:11520796,ECO:0000269|PubMed:19912631;Dbxref=dbSNP:rs199474681,PMID:11133745,PMID:11520796,PMID:19912631 P15918 UniProtKB Natural variant 561 561 . . . ID=VAR_008890;Note=In OS. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9630231;Dbxref=dbSNP:rs104894285,PMID:9630231 P15918 UniProtKB Natural variant 561 561 . . . ID=VAR_008889;Note=In OS. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9630231;Dbxref=dbSNP:rs104894284,PMID:9630231 P15918 UniProtKB Natural variant 612 612 . . . ID=VAR_078307;Note=Found in a patient with an atypical form of combined immunodeficiency%3B uncertain significance. H->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25516070;Dbxref=dbSNP:rs1850821995,PMID:25516070 P15918 UniProtKB Natural variant 624 624 . . . ID=VAR_025982;Note=In OS. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11133745;Dbxref=dbSNP:rs199474688,PMID:11133745 P15918 UniProtKB Natural variant 624 624 . . . ID=VAR_007803;Note=In T(-)B(-)NK(+) SCID%3B decreased recombination activity. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19912631,ECO:0000269|PubMed:8810255;Dbxref=dbSNP:rs199474680,PMID:19912631,PMID:8810255 P15918 UniProtKB Natural variant 669 669 . . . ID=VAR_025983;Note=In OS. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11133745;Dbxref=dbSNP:rs199474689,PMID:11133745 P15918 UniProtKB Natural variant 699 699 . . . ID=VAR_067276;Note=In OS%3B also in a patient with multiple autoimmune disorders. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21771083;Dbxref=dbSNP:rs199474676,PMID:21771083 P15918 UniProtKB Natural variant 722 722 . . . ID=VAR_007804;Note=In T(-)B(-)NK(+) SCID%3B decreased recombination activity. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8810255;Dbxref=dbSNP:rs28933392,PMID:8810255 P15918 UniProtKB Natural variant 737 737 . . . ID=VAR_008891;Note=In OS%3B also found in CHIDG when associated in cis with T-507. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18463379,ECO:0000269|PubMed:9630231;Dbxref=dbSNP:rs104894286,PMID:18463379,PMID:9630231 P15918 UniProtKB Natural variant 753 753 . . . ID=VAR_025984;Note=In OS%3B found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome. H->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11133745;Dbxref=dbSNP:rs199474687,PMID:11133745 P15918 UniProtKB Natural variant 774 1043 . . . ID=VAR_078308;Note=In T(-)B(-)NK(+) SCID%3B uncertain significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8810255;Dbxref=PMID:8810255 P15918 UniProtKB Natural variant 778 778 . . . ID=VAR_045958;Note=In CHIDG%3B reduced recombination activity. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18463379;Dbxref=dbSNP:rs121918569,PMID:18463379 P15918 UniProtKB Natural variant 820 820 . . . ID=VAR_008892;Note=K->R;Dbxref=dbSNP:rs2227973 P15918 UniProtKB Natural variant 841 841 . . . ID=VAR_025985;Note=In T-CMVA%3B also found in a patient with an atypical form of severe combined immunodeficiency /Omenn syndrome. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16276422;Dbxref=dbSNP:rs104894287,PMID:16276422 P15918 UniProtKB Natural variant 855 855 . . . ID=VAR_025986;Note=Found in a patient with severe combined immunodeficiency with maternal fetal engraftment%3B likely pathogenic. N->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11133745;Dbxref=dbSNP:rs199474690,PMID:11133745 P15918 UniProtKB Natural variant 880 880 . . . ID=VAR_020114;Note=E->K;Dbxref=dbSNP:rs4151033 P15918 UniProtKB Natural variant 885 885 . . . ID=VAR_008893;Note=In OS. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10606976;Dbxref=dbSNP:rs199474691,PMID:10606976 P15918 UniProtKB Natural variant 887 887 . . . ID=VAR_029264;Note=D->N;Dbxref=dbSNP:rs4151034 P15918 UniProtKB Natural variant 897 1043 . . . ID=VAR_078309;Note=In T(-)B(-)NK(+) SCID%3B uncertain significance%3B also found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome%3B uncertain significance%3B loss of recombination activity. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11520796,ECO:0000269|PubMed:25516070,ECO:0000269|PubMed:8810255;Dbxref=PMID:11520796,PMID:25516070,PMID:8810255 P15918 UniProtKB Natural variant 912 912 . . . ID=VAR_008894;Note=In OS. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9630231;Dbxref=dbSNP:rs104894290,PMID:9630231 P15918 UniProtKB Natural variant 938 1043 . . . ID=VAR_078310;Note=In T(-)B(-)NK(+) SCID%3B decreased recombination activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8810255;Dbxref=PMID:8810255 P15918 UniProtKB Natural variant 975 975 . . . ID=VAR_025987;Note=In OS. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11133745;Dbxref=dbSNP:rs150739647,PMID:11133745 P15918 UniProtKB Natural variant 975 975 . . . ID=VAR_045959;Note=In CHIDG%3B reduced recombination activity. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18463379;Dbxref=dbSNP:rs121918570,PMID:18463379 P15918 UniProtKB Natural variant 981 981 . . . ID=VAR_025988;Note=In T-CMVA. Q->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16276422;Dbxref=dbSNP:rs104894288,PMID:16276422