##gff-version 3 P15863 UniProtKB Chain 1 534 . . . ID=PRO_0000050172;Note=Paired box protein Pax-1 P15863 UniProtKB DNA binding 98 224 . . . Note=Paired;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00381 P15863 UniProtKB Region 101 157 . . . Note=PAI subdomain;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00381 P15863 UniProtKB Region 176 224 . . . Note=RED subdomain;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00381 P15863 UniProtKB Region 424 480 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P15863 UniProtKB Region 492 511 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P15863 UniProtKB Alternative sequence 1 95 . . . ID=VSP_039095;Note=In isoform 2 and isoform 3. MKFTLGLGSRAWRVSWEGAAAAAAGPGAGGSALRCRAQRVSSPRLGRRGSRLSGALPLCLSRGGGGAQALPDCAGPSPGHPGHPGARQLAGPLAM->MRRAPLRGSSAPLPTPSQTQAVCPWTPSCLGTHRSPLEVRLGAVPRSAWGPLANPPGVFSPSGSLLSGASA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 P15863 UniProtKB Alternative sequence 428 534 . . . ID=VSP_039096;Note=In isoform 2. GSLPAPAARPRTPSVAYTDCPSRPRPPRGSSPRTRARRERQADPGAQVCAAAPAIGTGRIGGLAEEEASAGPRGARPASPQAQPCLWPDPPHFLYWSGFLGFSELGF->VADRKPPSSGSKAPDALSSLHGLPIPASTS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 P15863 UniProtKB Natural variant 139 139 . . . ID=VAR_003787;Note=Found in a patient with neural tube defects%3B uncertain significance. Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8863157;Dbxref=PMID:8863157 P15863 UniProtKB Natural variant 166 166 . . . ID=VAR_070922;Note=In OTFCS2%3B significantly reduced transactivation of the regulatory sequence of NKX3-2 in cells over-expressing the mutant sequence compared to cells over-expressing wild-type sequence. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23851939;Dbxref=dbSNP:rs540296842,PMID:23851939 P15863 UniProtKB Natural variant 439 439 . . . ID=VAR_055369;Note=T->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.2;Dbxref=dbSNP:rs17861058 P15863 UniProtKB Natural variant 453 453 . . . ID=VAR_055370;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.2;Dbxref=dbSNP:rs17861059 P15863 UniProtKB Natural variant 504 504 . . . ID=VAR_055371;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.2;Dbxref=dbSNP:rs17861061