##gff-version 3 Q96CV9 UniProtKB Chain 1 577 . . . ID=PRO_0000058066;Note=Optineurin Q96CV9 UniProtKB Zinc finger 547 577 . . . Note=CCHC NOA-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01142 Q96CV9 UniProtKB Region 1 32 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q96CV9 UniProtKB Region 58 209 . . . Note=Interaction with Rab8 Q96CV9 UniProtKB Region 101 143 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q96CV9 UniProtKB Region 186 209 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q96CV9 UniProtKB Region 261 297 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q96CV9 UniProtKB Region 411 577 . . . Note=Interaction with HD Q96CV9 UniProtKB Region 412 520 . . . Note=Interaction with MYO6;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15837803;Dbxref=PMID:15837803 Q96CV9 UniProtKB Coiled coil 38 170 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 Q96CV9 UniProtKB Coiled coil 239 508 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 Q96CV9 UniProtKB Motif 176 181 . . . Note=LIR Q96CV9 UniProtKB Motif 474 479 . . . Note=UBAN Q96CV9 UniProtKB Compositional bias 1 24 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q96CV9 UniProtKB Compositional bias 261 295 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q96CV9 UniProtKB Binding site 555 555 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01142 Q96CV9 UniProtKB Binding site 558 558 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01142 Q96CV9 UniProtKB Binding site 571 571 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01142 Q96CV9 UniProtKB Binding site 575 575 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01142 Q96CV9 UniProtKB Modified residue 177 177 . . . Note=Phosphoserine%3B by TBK1;Ontology_term=ECO:0000269,ECO:0007744,ECO:0007744;evidence=ECO:0000269|PubMed:21617041,ECO:0007744|PubMed:23186163,ECO:0007744|PubMed:24275569;Dbxref=PMID:21617041,PMID:23186163,PMID:24275569 Q96CV9 UniProtKB Modified residue 198 198 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Q96CV9 UniProtKB Modified residue 342 342 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Q96CV9 UniProtKB Modified residue 526 526 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Q96CV9 UniProtKB Alternative sequence 1 57 . . . ID=VSP_013261;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9488477;Dbxref=PMID:9488477 Q96CV9 UniProtKB Alternative sequence 210 215 . . . ID=VSP_013262;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Q96CV9 UniProtKB Natural variant 26 26 . . . ID=VAR_021537;Note=In GLC1E. H->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15226658,ECO:0000269|PubMed:15370540,ECO:0000269|PubMed:15557444;Dbxref=dbSNP:rs200710076,PMID:15226658,PMID:15370540,PMID:15557444 Q96CV9 UniProtKB Natural variant 50 50 . . . ID=VAR_021538;Note=In GLC1E%3B selectively promotes cell death of retinal ganglion cells probably by inducing TBC1D17-mediated inhibition of autophagy%3B affects Rab8-mediated endocytic trafficking%3B no effect on interaction with TBC1D17%3B increases colocalization with TBC1D17 and Rab8%3B increases interaction with TFRC and impairs its endocytic recycling%3B increases interactions with TBK1%3B decreases self-association%3B disturbs transition from the ER to Golgi%3B no effect on ubiquitin-binding%3B increases interaction with RAB8A as shown by immunoprecipitation in transfected HeLa cells%2C although other assays in yeast and mice show loss of direct interaction%2C it has been proposed that the variant might abolish direct interaction with Rab8 and enhance indirect interaction%2C hence altering the functional positioning of the molecules in the complex in such a way that it leads to constitutive or increased inactivation of Rab8 by TBC1D17. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11834836,ECO:0000269|PubMed:17389490,ECO:0000269|PubMed:20085643,ECO:0000269|PubMed:20388642,ECO:0000269|PubMed:22854040,ECO:0000269|PubMed:23669351,ECO:0000269|PubMed:24752605;Dbxref=dbSNP:rs28939688,PMID:11834836,PMID:17389490,PMID:20085643,PMID:20388642,PMID:22854040,PMID:23669351,PMID:24752605 Q96CV9 UniProtKB Natural variant 98 98 . . . ID=VAR_021539;Note=May modify intraocular pressure and increase risk of GLC1E and NPG%3B induces TFRC degradation leading to autophagic death in retinal ganglion cells. M->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11834836,ECO:0000269|PubMed:14627677,ECO:0000269|PubMed:15498064,ECO:0000269|PubMed:15557444,ECO:0000269|PubMed:23357852;Dbxref=dbSNP:rs11258194,PMID:11834836,PMID:14627677,PMID:15498064,PMID:15557444,PMID:23357852 Q96CV9 UniProtKB Natural variant 103 103 . . . ID=VAR_021540;Note=In GLC1E. E->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12939304;Dbxref=dbSNP:rs1346865805,PMID:12939304 Q96CV9 UniProtKB Natural variant 201 201 . . . ID=VAR_021541;Note=P->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11834836,ECO:0000269|PubMed:9488477,ECO:0000269|Ref.3;Dbxref=PMID:11834836,PMID:9488477 Q96CV9 UniProtKB Natural variant 213 213 . . . ID=VAR_021542;Note=Requires 2 nucleotide substitutions. K->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11834836,ECO:0000269|PubMed:9488477,ECO:0000269|Ref.3;Dbxref=PMID:11834836,PMID:9488477 Q96CV9 UniProtKB Natural variant 216 216 . . . ID=VAR_021543;Note=S->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11834836,ECO:0000269|PubMed:9488477,ECO:0000269|Ref.3;Dbxref=dbSNP:rs750088207,PMID:11834836,PMID:9488477 Q96CV9 UniProtKB Natural variant 295 295 . . . ID=VAR_078108;Note=In ALS12%3B no effect on Golgi subcellular location%3B no effect on protein expression level%3B increased Golgi fragmentation%3B decreased Golgi ribbon formation%3B increased susceptibility to endoplasmic reticulum (ER) stress. V->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27534431;Dbxref=dbSNP:rs761558354,PMID:27534431 Q96CV9 UniProtKB Natural variant 308 308 . . . ID=VAR_030769;Note=S->P;Dbxref=dbSNP:rs7068431 Q96CV9 UniProtKB Natural variant 322 322 . . . ID=VAR_021544;Note=E->K;Dbxref=dbSNP:rs523747 Q96CV9 UniProtKB Natural variant 357 357 . . . ID=VAR_021545;Note=T->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11834836,ECO:0000269|PubMed:9488477,ECO:0000269|Ref.3;Dbxref=PMID:11834836,PMID:9488477 Q96CV9 UniProtKB Natural variant 478 478 . . . ID=VAR_063597;Note=In ALS12. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20428114;Dbxref=dbSNP:rs267606929,PMID:20428114 Q96CV9 UniProtKB Natural variant 486 486 . . . ID=VAR_021546;Note=In GLC1E%3B juvenile onset. H->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12939304,ECO:0000269|PubMed:15326130;Dbxref=dbSNP:rs373425395,PMID:12939304,PMID:15326130 Q96CV9 UniProtKB Natural variant 545 545 . . . ID=VAR_021547;Note=In GLC1E%3B uncertain significance. R->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11834836,ECO:0000269|PubMed:14597044,ECO:0000269|PubMed:15557444;Dbxref=dbSNP:rs75654767,PMID:11834836,PMID:14597044,PMID:15557444 Q96CV9 UniProtKB Mutagenesis 50 50 . . . Note=No effect on retinal ganglion cell death%2C decreased interaction with TFRC%2C loss of localization to recycling endosomes%2C loss of ubiquitin-binding%3B when associated with N-474. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20085643,ECO:0000269|PubMed:24752605;Dbxref=PMID:20085643,PMID:24752605 Q96CV9 UniProtKB Mutagenesis 178 178 . . . Note=Abolishes interaction with MAP1LC3A and GABARAPL1%2C no effect on binding to linear ubiquitin. F->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21617041,ECO:0000269|PubMed:23805866;Dbxref=PMID:21617041,PMID:23805866 Q96CV9 UniProtKB Mutagenesis 178 178 . . . Note=Increases interaction with MAP1LC3B. F->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21617041,ECO:0000269|PubMed:23805866;Dbxref=PMID:21617041,PMID:23805866 Q96CV9 UniProtKB Mutagenesis 474 475 . . . Note=Abolishes colocalization with cytosolic Salmonella. DF->NA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21617041;Dbxref=PMID:21617041 Q96CV9 UniProtKB Mutagenesis 474 474 . . . Note=No effect on retinal ganglion cell death%2C drastically decreased interaction with TFRC%2C loss of localization to recycling endosomes%2C loss of ubiquitin-binding%3B when associated with K-50. D->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20085643,ECO:0000269|PubMed:20174559,ECO:0000269|PubMed:24752605;Dbxref=PMID:20085643,PMID:20174559,PMID:24752605 Q96CV9 UniProtKB Mutagenesis 474 474 . . . Note=Significant reduction in ubiquitin binding%2C decreased interaction with TBK1%2C loss of localization to recycling endosomes%2C disruption of interaction with TFRC%2C loss of inhibition of IFNB activation in response to TLR3 or RIG-I signaling%2C no effect on retinal ganglion cell death. D->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20085643,ECO:0000269|PubMed:20174559,ECO:0000269|PubMed:24752605;Dbxref=PMID:20085643,PMID:20174559,PMID:24752605 Q96CV9 UniProtKB Sequence conflict 436 436 . . . Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q96CV9 UniProtKB Turn 30 33 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5EOF Q96CV9 UniProtKB Helix 37 98 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5EOF Q96CV9 UniProtKB Beta strand 177 180 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7CZM Q96CV9 UniProtKB Helix 447 497 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5B83 Q96CV9 UniProtKB Turn 556 560 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2LO4 Q96CV9 UniProtKB Beta strand 561 564 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5AAZ Q96CV9 UniProtKB Helix 566 574 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2LO4