##gff-version 3 Q8N157 UniProtKB Chain 1 1196 . . . ID=PRO_0000050838;Note=Jouberin Q8N157 UniProtKB Repeat 607 649 . . . Note=WD 1 Q8N157 UniProtKB Repeat 652 691 . . . Note=WD 2 Q8N157 UniProtKB Repeat 695 735 . . . Note=WD 3 Q8N157 UniProtKB Repeat 742 781 . . . Note=WD 4 Q8N157 UniProtKB Repeat 797 837 . . . Note=WD 5 Q8N157 UniProtKB Repeat 841 880 . . . Note=WD 6 Q8N157 UniProtKB Repeat 885 926 . . . Note=WD 7 Q8N157 UniProtKB Domain 1051 1111 . . . Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 Q8N157 UniProtKB Region 56 186 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8N157 UniProtKB Region 141 434 . . . Note=Interaction with HAP1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23532844;Dbxref=PMID:23532844 Q8N157 UniProtKB Region 215 242 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8N157 UniProtKB Region 254 327 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8N157 UniProtKB Region 1115 1196 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8N157 UniProtKB Coiled coil 13 45 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8N157 UniProtKB Compositional bias 56 70 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8N157 UniProtKB Compositional bias 71 112 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8N157 UniProtKB Compositional bias 144 177 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8N157 UniProtKB Compositional bias 226 242 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8N157 UniProtKB Compositional bias 259 284 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8N157 UniProtKB Compositional bias 308 326 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8N157 UniProtKB Compositional bias 1123 1137 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8N157 UniProtKB Compositional bias 1138 1158 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8N157 UniProtKB Compositional bias 1159 1190 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8N157 UniProtKB Modified residue 45 45 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Q8N157 UniProtKB Modified residue 1002 1002 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Q8N157 UniProtKB Modified residue 1123 1123 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Q8N157 UniProtKB Alternative sequence 594 609 . . . ID=VSP_015353;Note=In isoform 3. ACRIPNKHLFSLNAGE->ENEDVFVLISPTMEEY;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Q8N157 UniProtKB Alternative sequence 610 1196 . . . ID=VSP_015354;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Q8N157 UniProtKB Alternative sequence 1037 1053 . . . ID=VSP_015355;Note=In isoform 2. GIISIERKPCNHQVDTA->DSHFAEFNTCILWWKKH;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15169551;Dbxref=PMID:15169551 Q8N157 UniProtKB Alternative sequence 1054 1196 . . . ID=VSP_015356;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15169551;Dbxref=PMID:15169551 Q8N157 UniProtKB Natural variant 49 49 . . . ID=VAR_037892;Note=I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16453322;Dbxref=PMID:16453322 Q8N157 UniProtKB Natural variant 351 351 . . . ID=VAR_071194;Note=In JBTS3%3B loss of localization at cilium basal body and cell-cell junctions. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23532844;Dbxref=dbSNP:rs397514726,PMID:23532844 Q8N157 UniProtKB Natural variant 443 443 . . . ID=VAR_023391;Note=In JBTS3%3B alters interaction with HAP1 and NPHP1%3B loss of NPHP1AHI1(2):NPHP1(2) tetramers%3B loss of localization at cilium basal body and cell-cell junctions%3B loss of positive modulation of classical Wnt signaling%3B decreased interaction with CTNNB1. V->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15322546,ECO:0000269|PubMed:15467982,ECO:0000269|PubMed:21623382,ECO:0000269|PubMed:23532844;Dbxref=dbSNP:rs121434350,PMID:15322546,PMID:15467982,PMID:21623382,PMID:23532844 Q8N157 UniProtKB Natural variant 548 548 . . . ID=VAR_037893;Note=R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16155189,ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs35433555,PMID:16155189,PMID:16453322 Q8N157 UniProtKB Natural variant 589 1196 . . . ID=VAR_080417;Note=In JBTS3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs267606641,PMID:16453322 Q8N157 UniProtKB Natural variant 671 671 . . . ID=VAR_076820;Note=In JBTS3. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16155189;Dbxref=dbSNP:rs772989270,PMID:16155189 Q8N157 UniProtKB Natural variant 719 719 . . . ID=VAR_076821;Note=In JBTS3. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16155189;Dbxref=dbSNP:rs863225134,PMID:16155189 Q8N157 UniProtKB Natural variant 723 723 . . . ID=VAR_037894;Note=In JBTS3%3B loss of localization at the primary cilium%3B loss of positive modulation of classical Wnt signaling%3B no effect on interaction with CTNNB1. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16453322,ECO:0000269|PubMed:21623382;Dbxref=dbSNP:rs121434351,PMID:16453322,PMID:21623382 Q8N157 UniProtKB Natural variant 761 761 . . . ID=VAR_037895;Note=S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs794727174,PMID:16453322 Q8N157 UniProtKB Natural variant 830 830 . . . ID=VAR_037896;Note=R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16155189,ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs13312995,PMID:16155189,PMID:16453322 Q8N157 UniProtKB Natural variant 856 856 . . . ID=VAR_037897;Note=T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs199736888,PMID:16453322 Q8N157 UniProtKB Natural variant 896 896 . . . ID=VAR_076822;Note=In JBTS3%3B loss of localization at the primary cilium%3B loss of positive modulation of classical Wnt signaling%3B no effect on interaction with CTNNB1. H->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16155189,ECO:0000269|PubMed:21623382;Dbxref=dbSNP:rs863225135,PMID:16155189,PMID:21623382 Q8N157 UniProtKB Natural variant 933 933 . . . ID=VAR_037898;Note=Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs41288013,PMID:16453322 Q8N157 UniProtKB Natural variant 1018 1018 . . . ID=VAR_037899;Note=Q->P;Dbxref=dbSNP:rs6940875 Q8N157 UniProtKB Natural variant 1086 1086 . . . ID=VAR_068171;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22425360;Dbxref=dbSNP:rs148000791,PMID:22425360 Q8N157 UniProtKB Natural variant 1123 1123 . . . ID=VAR_037900;Note=S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs117447608,PMID:16453322 Q8N157 UniProtKB Natural variant 1140 1140 . . . ID=VAR_037901;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs201148693,PMID:16453322 Q8N157 UniProtKB Sequence conflict 18 18 . . . Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8N157 UniProtKB Sequence conflict 553 553 . . . Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8N157 UniProtKB Beta strand 1055 1060 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4ESR Q8N157 UniProtKB Beta strand 1077 1083 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4ESR Q8N157 UniProtKB Beta strand 1085 1094 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4ESR Q8N157 UniProtKB Beta strand 1097 1102 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4ESR Q8N157 UniProtKB Helix 1103 1105 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4ESR Q8N157 UniProtKB Beta strand 1106 1108 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4ESR Q8N157 UniProtKB Helix 1109 1114 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4ESR