##gff-version 3 P37275 UniProtKB Chain 1 1124 . . . ID=PRO_0000047231;Note=Zinc finger E-box-binding homeobox 1 P37275 UniProtKB Zinc finger 170 193 . . . Note=C2H2-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 P37275 UniProtKB Zinc finger 200 222 . . . Note=C2H2-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 P37275 UniProtKB Zinc finger 240 262 . . . Note=C2H2-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 P37275 UniProtKB Zinc finger 268 292 . . . Note=C2H2-type 4%3B atypical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 P37275 UniProtKB DNA binding 581 640 . . . Note=Homeobox%3B atypical P37275 UniProtKB Zinc finger 904 926 . . . Note=C2H2-type 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 P37275 UniProtKB Zinc finger 932 954 . . . Note=C2H2-type 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 P37275 UniProtKB Zinc finger 960 981 . . . Note=C2H2-type 7%3B atypical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 P37275 UniProtKB Region 1 124 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P37275 UniProtKB Region 142 163 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P37275 UniProtKB Region 304 327 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P37275 UniProtKB Region 551 586 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P37275 UniProtKB Region 636 714 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P37275 UniProtKB Region 856 898 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P37275 UniProtKB Region 989 1124 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P37275 UniProtKB Compositional bias 31 47 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P37275 UniProtKB Compositional bias 77 95 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P37275 UniProtKB Compositional bias 570 586 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P37275 UniProtKB Compositional bias 656 714 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P37275 UniProtKB Compositional bias 860 886 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P37275 UniProtKB Compositional bias 989 1004 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P37275 UniProtKB Compositional bias 1027 1050 . . . Note=Acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P37275 UniProtKB Compositional bias 1058 1085 . . . Note=Acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P37275 UniProtKB Modified residue 31 31 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q62947 P37275 UniProtKB Modified residue 33 33 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q62947 P37275 UniProtKB Modified residue 313 313 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q64318 P37275 UniProtKB Modified residue 322 322 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:18669648;Dbxref=PMID:18669648 P37275 UniProtKB Modified residue 642 642 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:19690332;Dbxref=PMID:19690332 P37275 UniProtKB Modified residue 679 679 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:23186163;Dbxref=PMID:19690332,PMID:20068231,PMID:23186163 P37275 UniProtKB Modified residue 686 686 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q64318 P37275 UniProtKB Modified residue 693 693 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q64318 P37275 UniProtKB Modified residue 700 700 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q64318 P37275 UniProtKB Modified residue 702 702 . . . Note=Phosphothreonine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:23186163;Dbxref=PMID:19690332,PMID:23186163 P37275 UniProtKB Modified residue 704 704 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q64318 P37275 UniProtKB Cross-link 186 186 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 P37275 UniProtKB Cross-link 195 195 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 P37275 UniProtKB Cross-link 307 307 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 P37275 UniProtKB Cross-link 331 331 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 P37275 UniProtKB Cross-link 335 335 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 P37275 UniProtKB Cross-link 347 347 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)%3B alternate P37275 UniProtKB Cross-link 347 347 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 P37275 UniProtKB Cross-link 439 439 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 P37275 UniProtKB Cross-link 493 493 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:25114211,ECO:0007744|PubMed:25218447,ECO:0007744|PubMed:25755297,ECO:0007744|PubMed:25772364,ECO:0007744|PubMed:28112733;Dbxref=PMID:25114211,PMID:25218447,PMID:25755297,PMID:25772364,PMID:28112733 P37275 UniProtKB Cross-link 504 504 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:25218447,ECO:0007744|PubMed:25755297,ECO:0007744|PubMed:25772364,ECO:0007744|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMID:25772364,PMID:28112733 P37275 UniProtKB Cross-link 515 515 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:25218447,ECO:0007744|PubMed:25755297,ECO:0007744|PubMed:25772364,ECO:0007744|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMID:25772364,PMID:28112733 P37275 UniProtKB Cross-link 548 548 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 P37275 UniProtKB Cross-link 553 553 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 P37275 UniProtKB Cross-link 774 774 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)%3B alternate P37275 UniProtKB Cross-link 774 774 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 P37275 UniProtKB Alternative sequence 1 19 . . . ID=VSP_047279;Note=In isoform 5. MADGPRCKRRKQANPRRNN->MK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 P37275 UniProtKB Alternative sequence 20 87 . . . ID=VSP_047280;Note=In isoform 3. VTNYNTVVETNSDSDDEDKLHIVEEESVTDAADCEGVPEDDLPTDQTVLPGRSSEREGNAKNCWEDDR->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 P37275 UniProtKB Alternative sequence 87 107 . . . ID=VSP_047281;Note=In isoform 4. RKEGQEILGPEAQADEAGCTV->I;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 P37275 UniProtKB Alternative sequence 87 87 . . . ID=VSP_045184;Note=In isoform 2 and isoform 5. R->TG;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 P37275 UniProtKB Natural variant 78 78 . . . ID=VAR_063759;Note=In FECD6%3B no effect on protein expression%3B no effect on nuclear localization. N->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20036349,ECO:0000269|PubMed:23599324,ECO:0000269|PubMed:25190660;Dbxref=dbSNP:rs80194531,PMID:20036349,PMID:23599324,PMID:25190660 P37275 UniProtKB Natural variant 90 90 . . . ID=VAR_052731;Note=G->R;Dbxref=dbSNP:rs12217419 P37275 UniProtKB Natural variant 525 525 . . . ID=VAR_072897;Note=Found in a patient with FECD6. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23599324;Dbxref=PMID:23599324 P37275 UniProtKB Natural variant 553 553 . . . ID=VAR_031824;Note=K->R;Dbxref=dbSNP:rs35753967 P37275 UniProtKB Natural variant 640 640 . . . ID=VAR_072898;Note=In FECD6%3B down-regulation of several collagen genes expression. Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23599324;Dbxref=dbSNP:rs779148597,PMID:23599324 P37275 UniProtKB Natural variant 649 649 . . . ID=VAR_063760;Note=In FECD6%3B no effect on protein expression%3B no effect on nuclear localization. P->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20036349,ECO:0000269|PubMed:25190660;Dbxref=dbSNP:rs781750314,PMID:20036349,PMID:25190660 P37275 UniProtKB Natural variant 696 696 . . . ID=VAR_072899;Note=In FECD6%3B no effect on protein expression%3B no effect on nuclear localization. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25190660;Dbxref=dbSNP:rs567252241,PMID:25190660 P37275 UniProtKB Natural variant 810 810 . . . ID=VAR_063761;Note=In FECD6%3B no effect on protein expression%3B no effect on nuclear localization. Q->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20036349,ECO:0000269|PubMed:25190660;Dbxref=dbSNP:rs199944415,PMID:20036349,PMID:25190660 P37275 UniProtKB Natural variant 840 840 . . . ID=VAR_063762;Note=In FECD6%3B no effect on protein expression%3B no effect on nuclear localization. Q->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20036349,ECO:0000269|PubMed:25190660;Dbxref=dbSNP:rs118020901,PMID:20036349,PMID:25190660 P37275 UniProtKB Natural variant 905 905 . . . ID=VAR_072900;Note=In FECD6%3B no effect on protein expression%3B no effect on nuclear localization. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25190660;Dbxref=dbSNP:rs78449005,PMID:25190660 P37275 UniProtKB Natural variant 905 905 . . . ID=VAR_063763;Note=In FECD6. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20036349;Dbxref=PMID:20036349 P37275 UniProtKB Sequence conflict 12 12 . . . Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 P37275 UniProtKB Sequence conflict 81 81 . . . Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 P37275 UniProtKB Sequence conflict 84 84 . . . Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 P37275 UniProtKB Sequence conflict 220 220 . . . Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 P37275 UniProtKB Sequence conflict 390 390 . . . Note=M->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 P37275 UniProtKB Sequence conflict 420 420 . . . Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 P37275 UniProtKB Sequence conflict 472 472 . . . Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 P37275 UniProtKB Sequence conflict 609 609 . . . Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 P37275 UniProtKB Sequence conflict 654 654 . . . Note=I->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 P37275 UniProtKB Sequence conflict 672 672 . . . Note=D->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 P37275 UniProtKB Sequence conflict 681 681 . . . Note=L->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 P37275 UniProtKB Sequence conflict 775 775 . . . Note=K->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 P37275 UniProtKB Sequence conflict 793 794 . . . Note=IP->KY;Ontology_term=ECO:0000305;evidence=ECO:0000305 P37275 UniProtKB Sequence conflict 797 797 . . . Note=A->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 P37275 UniProtKB Sequence conflict 818 818 . . . Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 P37275 UniProtKB Sequence conflict 838 838 . . . Note=I->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 P37275 UniProtKB Sequence conflict 1066 1066 . . . Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 P37275 UniProtKB Helix 590 600 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2E19 P37275 UniProtKB Helix 608 618 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2E19 P37275 UniProtKB Helix 622 634 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2E19