##gff-version 3 P13716 UniProtKB Chain 1 330 . . . ID=PRO_0000140526;Note=Delta-aminolevulinic acid dehydratase P13716 UniProtKB Active site 199 199 . . . Note=Schiff-base intermediate with substrate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3092810;Dbxref=PMID:3092810 P13716 UniProtKB Active site 252 252 . . . Note=Schiff-base intermediate with substrate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3092810;Dbxref=PMID:3092810 P13716 UniProtKB Binding site 122 122 . . . . P13716 UniProtKB Binding site 124 124 . . . . P13716 UniProtKB Binding site 131 131 . . . . P13716 UniProtKB Binding site 132 132 . . . . P13716 UniProtKB Binding site 209 209 . . . . P13716 UniProtKB Binding site 221 221 . . . . P13716 UniProtKB Binding site 223 223 . . . . P13716 UniProtKB Binding site 279 279 . . . . P13716 UniProtKB Binding site 318 318 . . . . P13716 UniProtKB Modified residue 199 199 . . . Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P10518 P13716 UniProtKB Modified residue 215 215 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P10518 P13716 UniProtKB Modified residue 252 252 . . . Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P10518 P13716 UniProtKB Alternative sequence 1 38 . . . ID=VSP_037866;Note=In isoform 2. MQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVT->MPPTSSTPSLSRPGLGQAGKPDTGSHPPPTISTSIFLSCFPTIPLSRPRTTGPSHSYQSISHPRSCR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 P13716 UniProtKB Natural variant 12 12 . . . ID=VAR_020973;Note=In an asymptomatic patient with ALAD deficiency%3B also found in a hereditary coproporphyria patient carrying the R-279 mutation in CPOX%3B hexamer with almost no residual activity. F->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10519994,ECO:0000269|PubMed:16398658,ECO:0000269|PubMed:17236137;Dbxref=dbSNP:rs121912984,PMID:10519994,PMID:16398658,PMID:17236137 P13716 UniProtKB Natural variant 59 59 . . . ID=VAR_003633;Note=Allele ALAD*2%3B ALAD*2 heterozygous or homozygous carriers have significantly higher blood lead levels than ALAD*1 homozygotes when exposed to environmental lead%3B fully active octamer. K->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11032836,ECO:0000269|PubMed:1716854,ECO:0000269|PubMed:17236137,ECO:0000269|PubMed:1769358,ECO:0000269|Ref.5;Dbxref=dbSNP:rs1800435,PMID:11032836,PMID:1716854,PMID:17236137,PMID:1769358 P13716 UniProtKB Natural variant 133 133 . . . ID=VAR_003634;Note=In AHEPP%3B mixture of about 50%25 hexamer and 50%25 octamer%3B about 10%25 residual activity. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17236137,ECO:0000269|PubMed:2063868;Dbxref=dbSNP:rs121912980,PMID:17236137,PMID:2063868 P13716 UniProtKB Natural variant 153 153 . . . ID=VAR_020974;Note=In AHEPP%3B about 95%25 octamer%3B about 40%25 residual activity. V->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10706561,ECO:0000269|PubMed:17236137;Dbxref=dbSNP:rs1554740221,PMID:10706561,PMID:17236137 P13716 UniProtKB Natural variant 240 240 . . . ID=VAR_003635;Note=In AHEPP%3B mixture of about 80%25 hexamer and 20%25 octamer%3B about 4%25 residual activity. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1309003,ECO:0000269|PubMed:1569184,ECO:0000269|PubMed:17236137;Dbxref=dbSNP:rs121912982,PMID:1309003,PMID:1569184,PMID:17236137 P13716 UniProtKB Natural variant 274 274 . . . ID=VAR_003636;Note=In AHEPP%3B mixture of about 14%25 hexamer and 86%25 octamer%3B about 20%25 enzyme residual activity. A->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1309003,ECO:0000269|PubMed:1569184,ECO:0000269|PubMed:17236137;Dbxref=dbSNP:rs121912983,PMID:1309003,PMID:1569184,PMID:17236137 P13716 UniProtKB Natural variant 275 275 . . . ID=VAR_003637;Note=In AHEPP%3B mainly octamer%3B reduced activity. V->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17236137,ECO:0000269|PubMed:2063868;Dbxref=dbSNP:rs121912981,PMID:17236137,PMID:2063868 P13716 UniProtKB Mutagenesis 122 122 . . . Note=Reduces enzyme activity about 1000000-fold%3B when associated with A-124 and A-132. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11032836;Dbxref=PMID:11032836 P13716 UniProtKB Mutagenesis 124 124 . . . Note=Reduces enzyme activity about 1000000-fold%3B when associated with A-122 and A-132. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11032836;Dbxref=PMID:11032836 P13716 UniProtKB Mutagenesis 131 131 . . . Note=No effect on catalytic activity%3B when associated with A-223. H->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11032836;Dbxref=PMID:11032836 P13716 UniProtKB Mutagenesis 132 132 . . . Note=Reduces enzyme activity about 1000000-fold%3B when associated with A-122 and A-124. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11032836;Dbxref=PMID:11032836 P13716 UniProtKB Mutagenesis 223 223 . . . Note=No effect on catalytic activity%3B when associated with A-131. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11032836;Dbxref=PMID:11032836 P13716 UniProtKB Helix 8 10 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5HMS P13716 UniProtKB Beta strand 11 13 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5HMS P13716 UniProtKB Helix 14 20 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Turn 21 24 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Helix 28 30 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Beta strand 31 37 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Beta strand 44 46 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Beta strand 48 50 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Beta strand 54 56 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Helix 58 71 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Beta strand 75 80 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Beta strand 83 85 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5HMS P13716 UniProtKB Beta strand 88 90 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5HMS P13716 UniProtKB Helix 92 94 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5HMS P13716 UniProtKB Helix 100 111 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Beta strand 115 121 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Helix 124 126 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5HMS P13716 UniProtKB Beta strand 127 129 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5HMS P13716 UniProtKB Beta strand 131 133 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5HNR P13716 UniProtKB Beta strand 137 139 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5HMS P13716 UniProtKB Helix 141 160 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Beta strand 163 167 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Helix 174 184 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Turn 188 190 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Beta strand 192 194 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Beta strand 198 200 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5HMS P13716 UniProtKB Helix 203 205 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Helix 206 210 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Beta strand 217 219 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5HMS P13716 UniProtKB Turn 222 224 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5HMS P13716 UniProtKB Helix 231 243 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Beta strand 247 253 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Helix 255 257 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Helix 258 267 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Beta strand 273 277 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Helix 279 290 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Helix 296 310 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Beta strand 313 317 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Helix 320 326 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8 P13716 UniProtKB Turn 327 329 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1PV8