##gff-version 3 P22735 UniProtKB Chain 1 817 . . . ID=PRO_0000213701;Note=Protein-glutamine gamma-glutamyltransferase K P22735 UniProtKB Region 1 100 . . . Note=Membrane anchorage region P22735 UniProtKB Region 1 38 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P22735 UniProtKB Region 59 105 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P22735 UniProtKB Region 793 817 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P22735 UniProtKB Active site 377 377 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU10024 P22735 UniProtKB Active site 436 436 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU10024 P22735 UniProtKB Active site 459 459 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU10024 P22735 UniProtKB Binding site 499 499 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P22735 UniProtKB Binding site 501 501 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P22735 UniProtKB Binding site 548 548 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P22735 UniProtKB Binding site 553 553 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P22735 UniProtKB Modified residue 22 22 . . . Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JLF6 P22735 UniProtKB Modified residue 24 24 . . . Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8973564;Dbxref=PMID:8973564 P22735 UniProtKB Modified residue 68 68 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P23606 P22735 UniProtKB Modified residue 82 82 . . . Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8973564;Dbxref=PMID:8973564 P22735 UniProtKB Modified residue 85 85 . . . Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8973564;Dbxref=PMID:8973564 P22735 UniProtKB Modified residue 92 92 . . . Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8973564;Dbxref=PMID:8973564 P22735 UniProtKB Modified residue 95 95 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JLF6 P22735 UniProtKB Alternative sequence 1 442 . . . ID=VSP_056840;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 P22735 UniProtKB Natural variant 42 42 . . . ID=VAR_015220;Note=In ARCI1%3B skin phenotype consistent with lamellar ichthyosis. S->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7824952,ECO:0000269|Ref.9;Dbxref=dbSNP:rs41295338,PMID:7824952 P22735 UniProtKB Natural variant 53 53 . . . ID=VAR_058638;Note=In ARCI1. C->S P22735 UniProtKB Natural variant 94 94 . . . ID=VAR_058639;Note=In ARCI1. G->D;Dbxref=dbSNP:rs121918729 P22735 UniProtKB Natural variant 102 102 . . . ID=VAR_020918;Note=In ARCI1%3B skin phenotype consistent with lamellar ichthyosis. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11511296;Dbxref=dbSNP:rs398122901,PMID:11511296 P22735 UniProtKB Natural variant 126 126 . . . ID=VAR_058640;Note=In ARCI1. R->C;Dbxref=dbSNP:rs397514524 P22735 UniProtKB Natural variant 126 126 . . . ID=VAR_058641;Note=In ARCI1. R->H;Dbxref=dbSNP:rs200491579 P22735 UniProtKB Natural variant 132 132 . . . ID=VAR_029268;Note=D->N;Dbxref=dbSNP:rs2229462 P22735 UniProtKB Natural variant 134 134 . . . ID=VAR_058642;Note=In ARCI1. Y->C;Dbxref=dbSNP:rs147916609 P22735 UniProtKB Natural variant 142 142 . . . ID=VAR_058643;Note=In ARCI1. R->C;Dbxref=dbSNP:rs121918716 P22735 UniProtKB Natural variant 142 142 . . . ID=VAR_007476;Note=In ARCI1%3B skin phenotype consistent with lamellar ichthyosis. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7773290,ECO:0000269|PubMed:9326318;Dbxref=dbSNP:rs121918718,PMID:7773290,PMID:9326318 P22735 UniProtKB Natural variant 142 142 . . . ID=VAR_058644;Note=In ARCI1. R->P P22735 UniProtKB Natural variant 143 143 . . . ID=VAR_007477;Note=In ARCI1%3B inhibits cell proliferation. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:26220141,ECO:0000269|PubMed:9326318;Dbxref=dbSNP:rs531650682,PMID:26220141,PMID:9326318 P22735 UniProtKB Natural variant 143 143 . . . ID=VAR_007478;Note=In ARCI1%3B skin phenotype consistent with lamellar ichthyosis. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7773290;Dbxref=dbSNP:rs121918719,PMID:7773290 P22735 UniProtKB Natural variant 144 144 . . . ID=VAR_058645;Note=In ARCI1. G->E;Dbxref=dbSNP:rs1465243895 P22735 UniProtKB Natural variant 144 144 . . . ID=VAR_058646;Note=In ARCI1. G->R;Dbxref=dbSNP:rs778635368 P22735 UniProtKB Natural variant 160 160 . . . ID=VAR_058647;Note=In ARCI1. S->C;Dbxref=dbSNP:rs121918728 P22735 UniProtKB Natural variant 205 205 . . . ID=VAR_058648;Note=In ARCI1. L->Q;Dbxref=dbSNP:rs878853259 P22735 UniProtKB Natural variant 209 209 . . . ID=VAR_058649;Note=In ARCI1. V->F P22735 UniProtKB Natural variant 212 212 . . . ID=VAR_075227;Note=In ARCI1%3B inhibits cell proliferation. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26220141;Dbxref=dbSNP:rs1555306304,PMID:26220141 P22735 UniProtKB Natural variant 218 218 . . . ID=VAR_007479;Note=In ARCI1%3B skin phenotype consistent with lamellar ichthyosis. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9326318;Dbxref=dbSNP:rs121918732,PMID:9326318 P22735 UniProtKB Natural variant 225 225 . . . ID=VAR_058650;Note=In ARCI1. R->H;Dbxref=dbSNP:rs549195122 P22735 UniProtKB Natural variant 225 225 . . . ID=VAR_058651;Note=In ARCI1. R->P;Dbxref=dbSNP:rs549195122 P22735 UniProtKB Natural variant 243 243 . . . ID=VAR_058652;Note=In ARCI1. I->S P22735 UniProtKB Natural variant 249 249 . . . ID=VAR_058653;Note=In ARCI1. P->L P22735 UniProtKB Natural variant 264 264 . . . ID=VAR_058654;Note=In ARCI1. R->Q;Dbxref=dbSNP:rs781006633 P22735 UniProtKB Natural variant 264 264 . . . ID=VAR_058655;Note=In ARCI1. R->W;Dbxref=dbSNP:rs201868387 P22735 UniProtKB Natural variant 272 272 . . . ID=VAR_058656;Note=In ARCI1. S->P;Dbxref=dbSNP:rs764040146 P22735 UniProtKB Natural variant 276 276 . . . ID=VAR_058657;Note=In ARCI1. Y->N;Dbxref=dbSNP:rs397514523 P22735 UniProtKB Natural variant 278 278 . . . ID=VAR_058658;Note=In ARCI1. G->R;Dbxref=dbSNP:rs121918725 P22735 UniProtKB Natural variant 285 285 . . . ID=VAR_058659;Note=In ARCI1. E->K;Dbxref=dbSNP:rs749721551 P22735 UniProtKB Natural variant 286 286 . . . ID=VAR_058660;Note=In ARCI1. R->Q;Dbxref=dbSNP:rs121918727 P22735 UniProtKB Natural variant 289 289 . . . ID=VAR_020919;Note=In ARCI1%3B skin phenotype consistent with lamellar ichthyosis. N->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11511296;Dbxref=dbSNP:rs121918730,PMID:11511296 P22735 UniProtKB Natural variant 293 293 . . . ID=VAR_058661;Note=In ARCI1. F->V P22735 UniProtKB Natural variant 304 304 . . . ID=VAR_058662;Note=In ARCI1. I->F;Dbxref=dbSNP:rs753798494 P22735 UniProtKB Natural variant 307 307 . . . ID=VAR_058663;Note=In ARCI1. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19890349;Dbxref=dbSNP:rs121918731,PMID:19890349 P22735 UniProtKB Natural variant 307 307 . . . ID=VAR_020920;Note=In ARCI1%3B skin phenotype consistent with lamellar ichthyosis. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11511296;Dbxref=dbSNP:rs121918731,PMID:11511296 P22735 UniProtKB Natural variant 315 315 . . . ID=VAR_058664;Note=In ARCI1. R->C;Dbxref=dbSNP:rs397514525 P22735 UniProtKB Natural variant 315 315 . . . ID=VAR_058665;Note=In ARCI1. R->H;Dbxref=dbSNP:rs143473912 P22735 UniProtKB Natural variant 315 315 . . . ID=VAR_058666;Note=In ARCI1. R->L;Dbxref=dbSNP:rs143473912 P22735 UniProtKB Natural variant 323 323 . . . ID=VAR_015221;Note=In ARCI1%3B skin phenotype consistent with lamellar ichthyosis. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7824952;Dbxref=dbSNP:rs121918717,PMID:7824952 P22735 UniProtKB Natural variant 323 323 . . . ID=VAR_058667;Note=In ARCI1. R->W;Dbxref=dbSNP:rs771820315 P22735 UniProtKB Natural variant 330 330 . . . ID=VAR_058668;Note=In ARCI1. N->H P22735 UniProtKB Natural variant 331 331 . . . ID=VAR_058669;Note=In ARCI1. S->P P22735 UniProtKB Natural variant 342 342 . . . ID=VAR_058670;Note=In ARCI1. W->R P22735 UniProtKB Natural variant 358 358 . . . ID=VAR_058671;Note=In ARCI1. S->R;Dbxref=dbSNP:rs779287673 P22735 UniProtKB Natural variant 359 359 . . . ID=VAR_058672;Note=In ARCI1. V->M;Dbxref=dbSNP:rs202037016 P22735 UniProtKB Natural variant 365 365 . . . ID=VAR_058673;Note=In ARCI1. Y->D P22735 UniProtKB Natural variant 366 366 . . . ID=VAR_058674;Note=In ARCI1. L->P P22735 UniProtKB Natural variant 372 372 . . . ID=VAR_055374;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.9;Dbxref=dbSNP:rs41293794 P22735 UniProtKB Natural variant 379 379 . . . ID=VAR_007480;Note=In ARCI1. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9326318;Dbxref=dbSNP:rs121918720,PMID:9326318 P22735 UniProtKB Natural variant 382 382 . . . ID=VAR_058675;Note=In ARCI1. G->R P22735 UniProtKB Natural variant 383 383 . . . ID=VAR_058676;Note=In ARCI1. V->M;Dbxref=dbSNP:rs121918722 P22735 UniProtKB Natural variant 389 389 . . . ID=VAR_015222;Note=In ARCI1%3B skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11251583;Dbxref=dbSNP:rs121918723,PMID:11251583 P22735 UniProtKB Natural variant 389 389 . . . ID=VAR_058677;Note=In ARCI1. R->P;Dbxref=dbSNP:rs121918723 P22735 UniProtKB Natural variant 392 392 . . . ID=VAR_058678;Note=In ARCI1. G->D;Dbxref=dbSNP:rs121918726 P22735 UniProtKB Natural variant 396 396 . . . ID=VAR_058679;Note=In ARCI1. R->H;Dbxref=dbSNP:rs121918721 P22735 UniProtKB Natural variant 396 396 . . . ID=VAR_007481;Note=In ARCI1%3B skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9326318;Dbxref=dbSNP:rs121918721,PMID:9326318 P22735 UniProtKB Natural variant 396 396 . . . ID=VAR_058680;Note=In ARCI1. R->S P22735 UniProtKB Natural variant 401 401 . . . ID=VAR_058681;Note=In ARCI1. F->V;Dbxref=dbSNP:rs991194429 P22735 UniProtKB Natural variant 430 430 . . . ID=VAR_058682;Note=In ARCI1. D->V;Dbxref=dbSNP:rs1555306103 P22735 UniProtKB Natural variant 473 473 . . . ID=VAR_058683;Note=In ARCI1. G->S;Dbxref=dbSNP:rs904122716,dbSNP:rs1057517838 P22735 UniProtKB Natural variant 490 490 . . . ID=VAR_058684;Note=In ARCI1. D->G;Dbxref=dbSNP:rs121918724 P22735 UniProtKB Natural variant 518 518 . . . ID=VAR_052550;Note=V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.9;Dbxref=dbSNP:rs35312232 P22735 UniProtKB Natural variant 520 520 . . . ID=VAR_058685;Note=In ARCI1. E->G;Dbxref=dbSNP:rs142404759 P22735 UniProtKB Natural variant 544 544 . . . ID=VAR_058686;Note=In ARCI1. Y->C;Dbxref=dbSNP:rs1044429462 P22735 UniProtKB Natural variant 607 607 . . . ID=VAR_052551;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.9;Dbxref=dbSNP:rs2229464 P22735 UniProtKB Natural variant 687 687 . . . ID=VAR_058687;Note=In ARCI1. R->C;Dbxref=dbSNP:rs147516124 P22735 UniProtKB Natural variant 687 687 . . . ID=VAR_058688;Note=In ARCI1. R->H P22735 UniProtKB Natural variant 755 755 . . . ID=VAR_052552;Note=S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.9;Dbxref=dbSNP:rs35926651 P22735 UniProtKB Natural variant 764 764 . . . ID=VAR_058689;Note=In ARCI1. R->C;Dbxref=dbSNP:rs201853046 P22735 UniProtKB Natural variant 802 802 . . . ID=VAR_024660;Note=D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.9;Dbxref=dbSNP:rs2228337 P22735 UniProtKB Sequence conflict 119 120 . . . Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 P22735 UniProtKB Sequence conflict 301 301 . . . Note=C->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 P22735 UniProtKB Sequence conflict 508 508 . . . Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 P22735 UniProtKB Sequence conflict 551 551 . . . Note=D->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 P22735 UniProtKB Sequence conflict 554 554 . . . Note=R->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 P22735 UniProtKB Sequence conflict 669 669 . . . Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 P22735 UniProtKB Beta strand 693 699 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2XZZ P22735 UniProtKB Beta strand 703 705 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2XZZ P22735 UniProtKB Beta strand 707 714 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2XZZ P22735 UniProtKB Beta strand 717 719 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2XZZ P22735 UniProtKB Beta strand 723 730 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2XZZ P22735 UniProtKB Turn 731 733 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2XZZ P22735 UniProtKB Beta strand 734 741 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2XZZ P22735 UniProtKB Beta strand 749 756 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2XZZ P22735 UniProtKB Beta strand 767 771 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2XZZ P22735 UniProtKB Helix 773 776 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2XZZ