##gff-version 3 Q13285 UniProtKB Chain 1 461 . . . ID=PRO_0000053729;Note=Steroidogenic factor 1 Q13285 UniProtKB Domain 222 459 . . . Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01189 Q13285 UniProtKB DNA binding 10 85 . . . Note=Nuclear receptor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407 Q13285 UniProtKB Zinc finger 13 33 . . . Note=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407 Q13285 UniProtKB Zinc finger 49 73 . . . Note=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407 Q13285 UniProtKB Region 119 157 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q13285 UniProtKB Region 230 461 . . . Note=Important for dimerization Q13285 UniProtKB Compositional bias 124 143 . . . Note=Pro residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q13285 UniProtKB Binding site 341 341 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15897460;Dbxref=PMID:15897460 Q13285 UniProtKB Binding site 341 341 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P33242 Q13285 UniProtKB Binding site 436 436 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15897460;Dbxref=PMID:15897460 Q13285 UniProtKB Binding site 436 436 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P33242 Q13285 UniProtKB Binding site 440 440 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15897460;Dbxref=PMID:15897460 Q13285 UniProtKB Binding site 440 440 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P33242 Q13285 UniProtKB Modified residue 34 34 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:11479297;Dbxref=PMID:11479297 Q13285 UniProtKB Modified residue 38 38 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:11479297;Dbxref=PMID:11479297 Q13285 UniProtKB Modified residue 72 72 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:11479297;Dbxref=PMID:11479297 Q13285 UniProtKB Modified residue 203 203 . . . Note=Phosphoserine%3B by CDK7;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10230405,ECO:0000269|PubMed:17901130,ECO:0000269|PubMed:19015234;Dbxref=PMID:10230405,PMID:17901130,PMID:19015234 Q13285 UniProtKB Cross-link 119 119 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15192080;Dbxref=PMID:15192080 Q13285 UniProtKB Cross-link 194 194 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15192080;Dbxref=PMID:15192080 Q13285 UniProtKB Natural variant 15 15 . . . ID=VAR_063255;Note=In SRXY3%3B without adrenal failure. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17200175;Dbxref=dbSNP:rs104894124,PMID:17200175 Q13285 UniProtKB Natural variant 18 22 . . . ID=VAR_079571;Note=In SRXY3%3B loss of DNA-binding%3B significantly decreased transactivator activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28459839;Dbxref=PMID:28459839 Q13285 UniProtKB Natural variant 33 33 . . . ID=VAR_039106;Note=In SRXY3%3B without adrenal failure%3B markedly impaired transcriptional activity. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17694559;Dbxref=dbSNP:rs1832496590,PMID:17694559 Q13285 UniProtKB Natural variant 35 35 . . . ID=VAR_004737;Note=In SRXY3%3B with adrenal failure. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10369247;Dbxref=dbSNP:rs121918654,PMID:10369247 Q13285 UniProtKB Natural variant 40 40 . . . ID=VAR_079572;Note=In SRXY3%3B loss of DNA-binding%3B significantly decreased transactivator activity. T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28459839;Dbxref=PMID:28459839 Q13285 UniProtKB Natural variant 65 65 . . . ID=VAR_078136;Note=In SRXY3%3B without adrenal failure. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24405868;Dbxref=PMID:24405868 Q13285 UniProtKB Natural variant 78 78 . . . ID=VAR_063256;Note=In SRXY3%3B without adrenal failure. M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17200175;Dbxref=dbSNP:rs104894125,PMID:17200175 Q13285 UniProtKB Natural variant 84 84 . . . ID=VAR_039107;Note=In SRXY3%3B without adrenal failure%3B markedly impaired transcriptional activity. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17694559;Dbxref=dbSNP:rs375469069,PMID:17694559 Q13285 UniProtKB Natural variant 91 91 . . . ID=VAR_063257;Note=In SRXY3%3B without adrenal failure. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17200175;Dbxref=dbSNP:rs104894126,PMID:17200175 Q13285 UniProtKB Natural variant 92 92 . . . ID=VAR_016982;Note=In SRXY3%2C SRXX4 and AINR%3B decreased transactivator activity%3B no effect on nuclear location. R->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11932325,ECO:0000269|PubMed:26523528,ECO:0000269|PubMed:27490115,ECO:0000269|PubMed:27855412;Dbxref=dbSNP:rs104894119,PMID:11932325,PMID:26523528,PMID:27490115,PMID:27855412 Q13285 UniProtKB Natural variant 92 92 . . . ID=VAR_078137;Note=In SRXY3 and SRXX4%3B decreased transactivator activity%3B loss of DNA binding%2C at least to some known consensus target sequences%3B no effect on nuclear location. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:27378692,ECO:0000269|PubMed:27490115,ECO:0000269|PubMed:27610946;Dbxref=dbSNP:rs886039769,PMID:27378692,PMID:27490115,PMID:27610946 Q13285 UniProtKB Natural variant 123 123 . . . ID=VAR_062967;Note=In SPGF8 and POF7%3B activity levels similar to wild-type. G->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19246354,ECO:0000269|PubMed:20887963;Dbxref=dbSNP:rs200163795,PMID:19246354,PMID:20887963 Q13285 UniProtKB Natural variant 129 129 . . . ID=VAR_062968;Note=In SPGF8 and POF7%3B loss of activity. P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19246354,ECO:0000269|PubMed:20887963;Dbxref=dbSNP:rs200749741,PMID:19246354,PMID:20887963 Q13285 UniProtKB Natural variant 131 131 . . . ID=VAR_065866;Note=In SPGF8%3B impairs transactivational activity. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20887963;Dbxref=dbSNP:rs387906690,PMID:20887963 Q13285 UniProtKB Natural variant 146 146 . . . ID=VAR_039108;Note=G->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17694559,ECO:0000269|PubMed:19246354;Dbxref=dbSNP:rs1110061,PMID:17694559,PMID:19246354 Q13285 UniProtKB Natural variant 191 191 . . . ID=VAR_065867;Note=In SPGF8%3B impairs transactivational activity. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20887963;Dbxref=dbSNP:rs1253324106,PMID:20887963 Q13285 UniProtKB Natural variant 212 212 . . . ID=VAR_065868;Note=In SPGF8%3B impairs transactivational activity. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20887963;Dbxref=dbSNP:rs201095702,PMID:20887963 Q13285 UniProtKB Natural variant 231 233 . . . ID=VAR_062969;Note=In POF7. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19246354;Dbxref=PMID:19246354 Q13285 UniProtKB Natural variant 238 238 . . . ID=VAR_065869;Note=In SPGF8%3B impairs transactivational activity. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20887963;Dbxref=dbSNP:rs780568525,PMID:20887963 Q13285 UniProtKB Natural variant 255 255 . . . ID=VAR_016983;Note=In AINR. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11038323;Dbxref=dbSNP:rs104894118,PMID:11038323 Q13285 UniProtKB Natural variant 293 293 . . . ID=VAR_062970;Note=In POF7%3B without adrenal failure%3B partial loss of activity. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19246354;Dbxref=dbSNP:rs121918655,PMID:19246354 Q13285 UniProtKB Natural variant 437 437 . . . ID=VAR_063258;Note=In SRXY3%3B without adrenal failure. L->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17200175;Dbxref=dbSNP:rs104894120,PMID:17200175 Q13285 UniProtKB Mutagenesis 119 119 . . . Note=Loss of sumoylation%3B when associated with R-194. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15192080;Dbxref=PMID:15192080 Q13285 UniProtKB Mutagenesis 194 194 . . . Note=Loss of sumoylation. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15192080;Dbxref=PMID:15192080 Q13285 UniProtKB Mutagenesis 269 269 . . . Note=Strongly reduced transactivation. A->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15897460;Dbxref=PMID:15897460 Q13285 UniProtKB Mutagenesis 341 341 . . . Note=Reduced transactivation. Strongly reduced transactivation%3B when associated with F-344. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15897460;Dbxref=PMID:15897460 Q13285 UniProtKB Mutagenesis 344 344 . . . Note=Reduced transactivation. Strongly reduced transactivation%3B when associated with E-341. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15897460;Dbxref=PMID:15897460 Q13285 UniProtKB Mutagenesis 433 433 . . . Note=Strongly reduced transactivation. A->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15897460;Dbxref=PMID:15897460 Q13285 UniProtKB Mutagenesis 436 436 . . . Note=Loss of transactivation%3B when associated with A-440. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15897460;Dbxref=PMID:15897460 Q13285 UniProtKB Mutagenesis 440 440 . . . Note=Loss of transactivation%3B when associated with F-436. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15897460;Dbxref=PMID:15897460 Q13285 UniProtKB Sequence conflict 63 63 . . . Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q13285 UniProtKB Helix 225 233 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1ZDT Q13285 UniProtKB Helix 239 243 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1ZDT Q13285 UniProtKB Helix 262 282 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1ZDT Q13285 UniProtKB Helix 286 288 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1ZDT Q13285 UniProtKB Helix 291 317 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1ZDT Q13285 UniProtKB Beta strand 322 324 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1ZDT Q13285 UniProtKB Beta strand 326 328 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1YOW Q13285 UniProtKB Beta strand 330 332 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1ZDT Q13285 UniProtKB Helix 333 339 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1ZDT Q13285 UniProtKB Helix 342 360 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1ZDT Q13285 UniProtKB Helix 365 376 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1ZDT Q13285 UniProtKB Helix 381 383 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1ZDT Q13285 UniProtKB Helix 387 408 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1ZDT Q13285 UniProtKB Beta strand 411 413 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1ZDT Q13285 UniProtKB Helix 415 442 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1ZDT Q13285 UniProtKB Helix 451 456 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1ZDT