##gff-version 3 P28069 UniProtKB Chain 1 291 . . . ID=PRO_0000100697;Note=Pituitary-specific positive transcription factor 1 P28069 UniProtKB Domain 124 198 . . . Note=POU-specific;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00530 P28069 UniProtKB DNA binding 214 273 . . . Note=Homeobox;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00108 P28069 UniProtKB Motif 5 13 . . . Note=9aaTAD;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34342803;Dbxref=PMID:34342803 P28069 UniProtKB Alternative sequence 47 47 . . . ID=VSP_002314;Note=In isoform A. T->TVPSILSLIQTPKCLCTHFSVTTLGNT;Ontology_term=ECO:0000305;evidence=ECO:0000305 P28069 UniProtKB Natural variant 4 4 . . . ID=VAR_003776;Note=Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8346040;Dbxref=dbSNP:rs1051612,PMID:8346040 P28069 UniProtKB Natural variant 19 19 . . . ID=VAR_049361;Note=A->V;Dbxref=dbSNP:rs35182189 P28069 UniProtKB Natural variant 24 24 . . . ID=VAR_003777;Note=In CPHD1. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1472057;Dbxref=dbSNP:rs104893757,PMID:1472057 P28069 UniProtKB Natural variant 76 76 . . . ID=VAR_075530;Note=In CPHD1%3B reduces transactivation capacity on the GH1 gene%3B increases the functional binding on the GH1 promoter%3B increases the interaction with ELK1%2C LHX3 and PITX1. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26612202;Dbxref=PMID:26612202 P28069 UniProtKB Natural variant 135 135 . . . ID=VAR_010574;Note=In CPHD1. F->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8768831;Dbxref=dbSNP:rs104893761,PMID:8768831 P28069 UniProtKB Natural variant 143 143 . . . ID=VAR_003778;Note=In CPHD1. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1472057;Dbxref=dbSNP:rs104893759,PMID:1472057 P28069 UniProtKB Natural variant 158 158 . . . ID=VAR_003779;Note=In CPHD1. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1509263;Dbxref=dbSNP:rs104893756,PMID:1509263 P28069 UniProtKB Natural variant 172 172 . . . ID=VAR_063425;Note=In CPHD1%3B results in severe impairment of transactivation%3B has a greatly reduced DNA-binding affinity compared to the wild-type protein. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15928241;Dbxref=dbSNP:rs104893765,PMID:15928241 P28069 UniProtKB Natural variant 174 174 . . . ID=VAR_010575;Note=In CPHD1. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9485179;Dbxref=dbSNP:rs1207179169,PMID:9485179 P28069 UniProtKB Natural variant 179 179 . . . ID=VAR_063426;Note=In CPHD1%3B transactivation capacity of this mutant is markedly decreased on the GH1%3B PRL%2C TSHB and POU1F1 genes%3B abolishes the functional interaction of POU1F1 on the PRL promoter with the coactivator CREBBP but not with the transcription factor LHX3%3B displays normal nuclear accumulation but a markedly decreased binding to a DNA response element. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16968807;Dbxref=dbSNP:rs104893766,PMID:16968807 P28069 UniProtKB Natural variant 193 193 . . . ID=VAR_015260;Note=In CPHD1. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11297581;Dbxref=dbSNP:rs104893758,PMID:11297581 P28069 UniProtKB Natural variant 227 227 . . . ID=VAR_003780;Note=D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8346040;Dbxref=dbSNP:rs1131815,PMID:8346040 P28069 UniProtKB Natural variant 230 230 . . . ID=VAR_063427;Note=In CPHD1%3B results in mild impairment of transactivation%3B has a similar DNA-binding affinity as the wild-type protein. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15928241;Dbxref=dbSNP:rs104893764,PMID:15928241 P28069 UniProtKB Natural variant 239 239 . . . ID=VAR_010576;Note=In CPHD1%3B loss of function. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9626142;Dbxref=dbSNP:rs104893762,PMID:9626142 P28069 UniProtKB Natural variant 265 265 . . . ID=VAR_075531;Note=In CPHD1%3B reduces transactivation capacity on the PRL gene%3B increases instability of the protein. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22010633;Dbxref=dbSNP:rs780359925,PMID:22010633 P28069 UniProtKB Natural variant 271 271 . . . ID=VAR_003781;Note=In CPHD1. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1472057,ECO:0000269|PubMed:1509262,ECO:0000269|PubMed:15928241,ECO:0000269|PubMed:7852536;Dbxref=dbSNP:rs104893755,PMID:1472057,PMID:1509262,PMID:15928241,PMID:7852536 P28069 UniProtKB Mutagenesis 74 74 . . . Note=No effect on the interaction with ELK1%2C LHX3 and PITX1. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26612202;Dbxref=PMID:26612202 P28069 UniProtKB Mutagenesis 75 75 . . . Note=Increases the interaction with LHX3. No effect on the interaction with ELK1. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26612202;Dbxref=PMID:26612202 P28069 UniProtKB Mutagenesis 76 76 . . . Note=Increases the interaction with LHX3 and PITX1. No effect on the interaction with ELK1. P->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26612202;Dbxref=PMID:26612202 P28069 UniProtKB Mutagenesis 77 77 . . . Note=Increases the interaction with LHX3 and PITX1. No effect on the interaction with ELK1. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26612202;Dbxref=PMID:26612202 P28069 UniProtKB Mutagenesis 78 78 . . . Note=Increases the interaction with LHX3 and PITX1. No effect on the interaction with ELK1. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26612202;Dbxref=PMID:26612202 P28069 UniProtKB Helix 127 145 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WC9 P28069 UniProtKB Helix 150 155 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WC9 P28069 UniProtKB Helix 158 161 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WC9 P28069 UniProtKB Helix 167 174 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WC9 P28069 UniProtKB Helix 180 196 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WC9 P28069 UniProtKB Helix 223 235 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WC9 P28069 UniProtKB Helix 241 251 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WC9 P28069 UniProtKB Helix 255 268 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5WC9