##gff-version 3 P54868 UniProtKB Transit peptide 1 37 . . . Note=Mitochondrion;Ontology_term=ECO:0000305;evidence=ECO:0000305 P54868 UniProtKB Chain 38 508 . . . ID=PRO_0000013483;Note=Hydroxymethylglutaryl-CoA synthase%2C mitochondrial P54868 UniProtKB Active site 132 132 . . . Note=Proton donor/acceptor;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:20346956;Dbxref=PMID:20346956 P54868 UniProtKB Active site 166 166 . . . Note=Acyl-thioester intermediate;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU10116,ECO:0000269|PubMed:20346956;Dbxref=PMID:20346956 P54868 UniProtKB Active site 301 301 . . . Note=Proton donor/acceptor;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:20346956;Dbxref=PMID:20346956 P54868 UniProtKB Binding site 80 80 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20346956;Dbxref=PMID:20346956 P54868 UniProtKB Binding site 204 204 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20346956;Dbxref=PMID:20346956 P54868 UniProtKB Binding site 258 258 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20346956;Dbxref=PMID:20346956 P54868 UniProtKB Binding site 380 380 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20346956;Dbxref=PMID:20346956 P54868 UniProtKB Modified residue 52 52 . . . Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54869 P54868 UniProtKB Modified residue 83 83 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54869 P54868 UniProtKB Modified residue 83 83 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54869 P54868 UniProtKB Modified residue 221 221 . . . Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54869 P54868 UniProtKB Modified residue 243 243 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54869 P54868 UniProtKB Modified residue 256 256 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54869 P54868 UniProtKB Modified residue 256 256 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54869 P54868 UniProtKB Modified residue 306 306 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54869 P54868 UniProtKB Modified residue 310 310 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54869 P54868 UniProtKB Modified residue 310 310 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q2KIE6 P54868 UniProtKB Modified residue 333 333 . . . Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54869 P54868 UniProtKB Modified residue 342 342 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54869 P54868 UniProtKB Modified residue 342 342 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54869 P54868 UniProtKB Modified residue 350 350 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54869 P54868 UniProtKB Modified residue 350 350 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54869 P54868 UniProtKB Modified residue 354 354 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54869 P54868 UniProtKB Modified residue 354 354 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54869 P54868 UniProtKB Modified residue 358 358 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54869 P54868 UniProtKB Modified residue 358 358 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54869 P54868 UniProtKB Modified residue 433 433 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 P54868 UniProtKB Modified residue 437 437 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54869 P54868 UniProtKB Modified residue 440 440 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 P54868 UniProtKB Modified residue 447 447 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54869 P54868 UniProtKB Modified residue 447 447 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54869 P54868 UniProtKB Modified residue 456 456 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54869 P54868 UniProtKB Modified residue 473 473 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54869 P54868 UniProtKB Modified residue 473 473 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54869 P54868 UniProtKB Modified residue 477 477 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P22791 P54868 UniProtKB Alternative sequence 187 228 . . . ID=VSP_042892;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 P54868 UniProtKB Alternative sequence 229 283 . . . ID=VSP_047445;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:21952825;Dbxref=PMID:21952825 P54868 UniProtKB Natural variant 54 54 . . . ID=VAR_032757;Note=In HMGCS2D%3B abolished protein expression. V->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12647205,ECO:0000269|PubMed:23751782;Dbxref=dbSNP:rs28937320,PMID:12647205,PMID:23751782 P54868 UniProtKB Natural variant 112 112 . . . ID=VAR_083500;Note=In HMGCS2D%3B decreased protein abundance%3B abolished enzymatic activity. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29597274;Dbxref=dbSNP:rs768707273,PMID:29597274 P54868 UniProtKB Natural variant 144 144 . . . ID=VAR_083501;Note=In HMGCS2D%3B decreased protein abundance%3B stong reduction of enzymatic activity. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29597274;Dbxref=dbSNP:rs775528207,PMID:29597274 P54868 UniProtKB Natural variant 167 167 . . . ID=VAR_032758;Note=In HMGCS2D%3B abolished enzymatic activity. Y->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12647205,ECO:0000269|PubMed:23751782;Dbxref=dbSNP:rs137852640,PMID:12647205,PMID:23751782 P54868 UniProtKB Natural variant 168 168 . . . ID=VAR_083502;Note=In HMGCS2D. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25511235;Dbxref=dbSNP:rs746217014,PMID:25511235 P54868 UniProtKB Natural variant 169 169 . . . ID=VAR_083503;Note=In HMGCS2D%3B decreased protein abundance%3B abolished enzymatic activity. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25511235;Dbxref=dbSNP:rs1237226874,PMID:25511235 P54868 UniProtKB Natural variant 174 174 . . . ID=VAR_032711;Note=In HMGCS2D%3B reduced peptide level%3B strong reduction of enzymatic activity. F->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11228257,ECO:0000269|PubMed:23751782;Dbxref=dbSNP:rs137852636,PMID:11228257,PMID:23751782 P54868 UniProtKB Natural variant 185 185 . . . ID=VAR_083504;Note=In HMGCS2D%3B strong decreased of protein expression%3B abolished enzymatic activity. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25511235;Dbxref=PMID:25511235 P54868 UniProtKB Natural variant 188 188 . . . ID=VAR_083505;Note=In HMGCS2D%3B abolished protein expression. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16601895,ECO:0000269|PubMed:23751782;Dbxref=dbSNP:rs761373362,PMID:16601895,PMID:23751782 P54868 UniProtKB Natural variant 212 212 . . . ID=VAR_032759;Note=In HMGCS2D%3B abolished protein expression. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11479731,ECO:0000269|PubMed:23751782;Dbxref=dbSNP:rs137852638,PMID:11479731,PMID:23751782 P54868 UniProtKB Natural variant 232 232 . . . ID=VAR_083506;Note=In HMGCS2D%3B decreased protein abundance%3B abolished enzymatic activity. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25511235;Dbxref=dbSNP:rs1002548815,PMID:25511235 P54868 UniProtKB Natural variant 266 266 . . . ID=VAR_083507;Note=In HMGCS2D%3B decreased protein abundance%3B abolished enzymatic activity. L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25511235;Dbxref=dbSNP:rs918691885,PMID:25511235 P54868 UniProtKB Natural variant 307 307 . . . ID=VAR_083508;Note=In HMGCS2D%3B abolished enzymatic activity. M->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16601895,ECO:0000269|PubMed:23751782;Dbxref=PMID:16601895,PMID:23751782 P54868 UniProtKB Natural variant 360 360 . . . ID=VAR_083509;Note=In HMGCS2D. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25511235;Dbxref=PMID:25511235 P54868 UniProtKB Natural variant 388 388 . . . ID=VAR_083510;Note=In HMGCS2D%3B abolished protein expression. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23751782;Dbxref=dbSNP:rs752626288,PMID:23751782 P54868 UniProtKB Natural variant 424 508 . . . ID=VAR_083511;Note=In HMGCS2D. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23751782;Dbxref=PMID:23751782 P54868 UniProtKB Natural variant 470 470 . . . ID=VAR_083512;Note=In HMGCS2D%3B decreased protein abundance%3B abolished enzymatic activity%3B requires 2 nucleotide substitutions. F->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25511235;Dbxref=PMID:25511235 P54868 UniProtKB Natural variant 500 500 . . . ID=VAR_032760;Note=In HMGCS2D%3B abolished enzymatic activity. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11479731,ECO:0000269|PubMed:23751782;Dbxref=dbSNP:rs137852639,PMID:11479731,PMID:23751782 P54868 UniProtKB Natural variant 503 503 . . . ID=VAR_083513;Note=In HMGCS2D%3B decreased protein abundance%3B stong reduction of enzymatic activity. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25511235;Dbxref=PMID:25511235 P54868 UniProtKB Natural variant 505 505 . . . ID=VAR_083514;Note=In HMGCS2D%3B decreased protein abundance%3B stong reduction of enzymatic activity. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25511235;Dbxref=dbSNP:rs758519315,PMID:25511235 P54868 UniProtKB Sequence conflict 234 234 . . . Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 P54868 UniProtKB Sequence conflict 385 385 . . . Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 P54868 UniProtKB Beta strand 55 62 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Beta strand 65 69 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 70 76 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 83 88 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Beta strand 92 94 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 102 117 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 121 123 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Beta strand 124 130 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Beta strand 137 139 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 141 145 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 146 148 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 150 152 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Beta strand 161 164 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 165 167 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 168 180 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Beta strand 189 198 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 206 208 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Beta strand 210 221 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Beta strand 223 226 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Beta strand 232 235 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Beta strand 240 242 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 255 283 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 292 294 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Beta strand 296 300 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 305 322 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 325 331 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 333 338 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 343 347 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 350 367 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 369 372 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 373 378 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 382 384 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 385 396 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 399 402 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Beta strand 406 413 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Turn 414 416 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Beta strand 417 425 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 434 440 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Turn 441 444 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 445 450 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Beta strand 452 455 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 457 470 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Helix 482 484 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Beta strand 490 495 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA P54868 UniProtKB Beta strand 501 505 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2WYA