303:
280:
1144:
177:
202:
1175:
568:
561:
554:
309:
208:
26:
1199:, an autosomal dominant genetic disorder where insufficient hydroxymethylbilane is produced, leading to a build-up of porphobilinogen in the cytoplasm. This is caused by a gene mutation that, in 90% of cases, causes decreased amounts of enzyme. However, mutations where less-active enzymes and/or different isoforms have been described. At least 115 disease-causing mutations in this gene have been discovered.
3142:
1186:
of ammonia from porphobilinogen, generating a carbocation intermediate (1). This intermediate is then attacked by the dipyrrole cofactor of porphobilinogen deaminase, which after losing a proton yields a trimer covalently bound to the enzyme (2). This intermediate is then open to further reaction
1151:
The structure of 40-42 kDa porphobilinogen deaminase, which is highly conserved amongst organisms, consists of three domains. Domains 1 and 2 are structurally very similar: each consisting of five beta-sheets and three alpha helices in humans. Domain 3 is positioned between the other two and has a
1161:
residues, positioned to face the active site from domains 1 and 2, have been shown to stabilize the carboxylate functionalities on the incoming porphobilinogen as well as the growing pyrrole chain. These structural features presumably favor the formation of the final hydroxymethylbilane product.
52:
1293:
Lannfelt L, Wetterberg L, Lilius L, Thunell S, Jörnvall H, Pavlu B, Wielburski A, Gellerfors P (November 1989). "Porphobilinogen deaminase in human erythrocytes: purification of two forms with apparent molecular weights of 40 kDa and 42 kDa".
1329:
Louie GV, Brownlie PD, Lambert R, Cooper JB, Blundell TL, Wood SP, Warren MJ, Woodcock SC, Jordan PM (September 1992). "Structure of porphobilinogen deaminase reveals a flexible multidomain polymerase with a single catalytic site".
2035:
Mgone CS, Lanyon WG, Moore MR, Connor JM (1992). "Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA".
1970:
Hrdinka M, Puy H, Martasek P (2007). "May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population".
1156:
of this enzyme consisting of two condensed porphobilinogen molecules, is covalently attached to domain 3 and extends into the active site, the cleft between domains 1 and 2. Several positively charged
1896:
Hessels J, Voortman G, van der Wagen A, et al. (2004). "Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors".
1521:
Pichon C, Clemens KR, Jacobson AR, Ian Scott A (June 1992). "On the mechanism of porphobilinogen deaminase. Design, synthesis, and enzymatic reactions of novel porphobilinogen analogs".
2246:
Scobie GA, Llewellyn DH, Urquhart AJ, et al. (1990). "Acute intermittent porphyria caused by a C----T mutation that produces a stop codon in the porphobilinogen deaminase gene".
2495:
2730:
1119:
1187:
with porphobilinogen (1 and 2 repeated three more times). Once a hexamer is formed, hydrolysis allows hydroxymethylbilane to be released, as well as cofactor regeneration (3).
2691:
2143:
Namba H, Narahara K, Tsuji K, et al. (1991). "Assignment of human porphobilinogen deaminase to 11q24.1----q24.2 by in situ hybridization and gene dosage studies".
316:
215:
1822:
Astrin KH, Desnick RJ (1995). "Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene".
1681:
Astrin KH, Desnick RJ (1994). "Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene".
2110:"Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease"
2488:
756:
2075:"High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria"
1634:"A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria"
737:
2723:
138:
2803:
2217:
Tunnacliffe A, McGuire RS (1991). "A physical linkage group in human chromosome band 11q23 covering a region implicated in leukocyte neoplasia".
1859:
Helliwell JR, Nieh YP, Habash J, et al. (2003). "Time-resolved and static-ensemble structural chemistry of hydroxymethylbilane synthase".
3162:
2481:
1275:
2174:"Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria"
1257:
2716:
1143:
2371:"A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia"
2285:"Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria"
988:
2436:
302:
2590:
2861:
2813:
1174:
995:
279:
2823:
1618:
1244:
1223:
2778:
2610:
201:
176:
3017:
1382:
1240:
49:
2768:
2585:
3132:
1726:"Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases"
1219:
2543:
1474:"Studies on the mechanism of hydroxymethylbilane synthase concerning the role of arginine residues in substrate binding"
1196:
118:
1381:
Gill R, Kolstoe SE, Mohammed F, Al D-Bass A, Mosely JE, Sarwar M, Cooper JB, Wood SP, Shoolingin-Jordan PM (May 2009).
315:
214:
2615:
3002:
3118:
3105:
3092:
3079:
3066:
3053:
3040:
2798:
2760:
308:
207:
3012:
2966:
2909:
2788:
2751:
2575:
1063:
801:
126:
2914:
2685:
1383:"Structure of human porphobilinogen deaminase at 2.8 Ă…: the molecular basis of acute intermittent porphyria"
1153:
782:
2473:
1104:
2935:
2854:
1140:) and its subsequent polymerization to a linear tetrapyrrole, which is released as hydroxymethylbilane:
1136:
Functionally, porphobilinogen deaminase catalyzes the loss of ammonia from the porphobilinogen monomer (
190:
3007:
2663:
2382:
1868:
1737:
1339:
105:
2971:
2818:
2793:
2783:
1425:"Evidence for a dipyrromethane cofactor at the catalytic site of E. coli porphobilinogen deaminase"
1121:
1082:
967:
946:
942:
938:
904:
883:
879:
875:
2904:
2508:
2271:
2061:
2023:
1958:
1921:
1847:
1810:
1706:
1454:
1363:
150:
2328:"Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase"
971:
934:
908:
871:
1632:
Grandchamp B, Picat C, de Rooij F, Beaumont C, Wilson P, Deybach JC, Nordmann Y (August 1989).
3167:
2808:
2453:
2410:
2357:
2314:
2263:
2234:
2205:
2160:
2131:
2096:
2053:
2015:
1980:
1950:
1913:
1884:
1839:
1802:
1763:
1698:
1663:
1600:
1565:
1503:
1446:
1405:
1355:
1311:
98:
42:
2950:
2945:
2919:
2847:
2400:
2390:
2347:
2339:
2304:
2296:
2255:
2226:
2195:
2185:
2152:
2121:
2086:
2045:
2005:
1942:
1905:
1876:
1831:
1794:
1785:
Deybach JC, Puy H (1995). "Porphobilinogen deaminase gene structure and molecular defects".
1753:
1745:
1690:
1653:
1645:
1592:
1557:
1530:
1493:
1485:
1436:
1397:
1347:
1303:
567:
560:
553:
395:
326:
270:
225:
2997:
2981:
2894:
1094:
1078:
370:
146:
1909:
1583:
Leeper FJ (April 1989). "The biosynthesis of porphyrins, chlorophylls, and vitamin B12".
2708:
2386:
1872:
1741:
1343:
3146:
3035:
2976:
2658:
2620:
2126:
2109:
2091:
2074:
1758:
1725:
1498:
1473:
1183:
2405:
2370:
2352:
2327:
2309:
2284:
1658:
1633:
1534:
671:
666:
661:
656:
651:
635:
630:
614:
609:
25:
3156:
2940:
2899:
2462:
2444:
2230:
2200:
2173:
1441:
1424:
596:
2275:
2065:
2027:
1962:
1851:
1814:
1710:
1458:
2889:
1925:
1367:
388:
167:
130:
154:
3113:
3048:
2884:
2739:
1280:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1262:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1137:
3141:
1749:
1472:
Lander M, Pitt AR, Alefounder PR, Bardy D, Abell C, Battersby AR (April 1991).
471:
2773:
2429:
1307:
287:
184:
134:
2343:
2190:
1946:
1933:
Kauppinen R (2004). "Molecular diagnostics of acute intermittent porphyria".
1649:
3087:
3061:
2524:
2516:
2440:
2435:
2010:
1993:
1835:
1694:
1163:
701:
531:
409:
354:
341:
253:
240:
142:
2395:
1984:
1954:
1917:
1888:
1767:
1569:
1409:
2414:
2361:
2318:
2267:
2238:
2209:
2164:
2135:
2100:
2057:
2019:
1843:
1806:
1702:
1667:
1604:
1507:
1450:
1359:
1315:
1035:
1030:
1596:
1158:
1077:
biosynthetic pathway. It catalyzes the head to tail condensation of four
1019:
846:
827:
2430:
1195:
The most well-known health issue involving porphobilinogen deaminase is
1066:
2467:
2457:
2259:
2049:
1798:
1401:
1086:
813:
768:
2300:
2156:
1489:
75:
71:
3100:
2870:
2743:
2504:
1880:
1561:
1548:
Battersby AR (December 2000). "Tetrapyrroles: the pigments of life".
1351:
1059:
1003:
723:
1994:"CRIM-positive mutations of acute intermittent porphyria in Finland"
3074:
2553:
2548:
2434:
1073:. Porphobilinogen deaminase is involved in the third step of the
686:
682:
2747:
2639:
2634:
2512:
1074:
1070:
122:
2843:
2712:
2477:
1162:
Porphobilinogen deaminase usually exists in dimer units in the
576:
2452:
Overview of all the structural information available in the
1173:
1142:
2439:
Heme synthesis—note that some reactions occur in the
2839:
1992:
Kauppinen R, Peltonen L, Pihlaja H, Mustajoki P (1993).
1108:
378:
109:, PBG-D, PBGD, PORC, UPS, hydroxymethylbilane synthase
3130:
2369:
Vidaud M, Gattoni R, Stevenin J, et al. (1989).
2283:
Delfau MH, Picat C, de Rooij FW, et al. (1990).
1107:
543:
2108:
Delfau MH, Picat C, De Rooij F, et al. (1991).
3026:
2990:
2959:
2928:
2877:
2759:
2673:
2647:
2633:
2599:
2564:
2532:
2523:
2073:Gu XF, de Rooij F, Voortman G, et al. (1992).
960:
927:
897:
864:
1236:
1234:
1232:
1215:
1213:
1211:
1113:
662:porphyrin-containing compound biosynthetic process
2326:Raich N, Romeo PH, Dubart A, et al. (1986).
325:
224:
1619:"Entrez Gene: HMBS hydroxymethylbilane synthase"
1152:flattened beta-sheet geometry. A dipyrrole, a
1241:GRCm38: Ensembl release 89: ENSMUSG00000032126
2855:
2724:
2489:
8:
1220:GRCh38: Ensembl release 89: ENSG00000256269
2862:
2848:
2840:
2731:
2717:
2709:
2644:
2529:
2496:
2482:
2474:
697:
652:protoporphyrinogen IX biosynthetic process
592:
366:
265:
162:
60:
2404:
2394:
2351:
2308:
2199:
2189:
2125:
2090:
2009:
1757:
1724:Ĺ imÄŤĂková D, Heneberg P (December 2019).
1657:
1497:
1440:
1182:The first step is believed to involve an
1106:
482:fetal liver hematopoietic progenitor cell
2804:Farnesyl-diphosphate farnesyltransferase
1069:) that in humans is encoded by the HMBS
3137:
1207:
1423:Jordan PM, Warren MJ (December 1987).
667:peptidyl-pyrromethane cofactor linkage
15:
615:hydroxymethylbilane synthase activity
330:
291:
286:
229:
188:
183:
7:
2466:(Porphobilinogen deaminase) at the
1114:{\displaystyle \rightleftharpoons }
2591:Uroporphyrinogen III decarboxylase
1910:10.1023/B:BOLI.0000016613.75677.05
957:
924:
894:
861:
837:
818:
792:
773:
747:
728:
548:
466:
404:
383:
14:
2814:Alkylglycerone phosphate synthase
657:tetrapyrrole biosynthetic process
3140:
2824:Geranylgeranyltransferase type 1
1147:Overall reaction of PB deaminase
566:
559:
552:
314:
307:
301:
278:
213:
206:
200:
175:
24:
2779:Methionine adenosyltransferase
2611:Coproporphyrinogen III oxidase
577:More reference expression data
532:More reference expression data
1:
2769:Dimethylallyltranstransferase
2586:Uroporphyrinogen III synthase
1867:: 131–44, discussion 171–90.
1535:10.1016/S0040-4020(01)81567-2
299:
198:
3163:Genes on human chromosome 11
2544:Aminolevulinic acid synthase
2375:Proc. Natl. Acad. Sci. U.S.A
2231:10.1016/0888-7543(90)90030-X
2178:Proc. Natl. Acad. Sci. U.S.A
1442:10.1016/0014-5793(87)81136-5
1197:acute intermittent porphyria
1178:Full PBG Deaminase Mechanism
1052:hydroxymethylbilane synthase
1296:Scand. J. Clin. Lab. Invest
1056:uroporphyrinogen I synthase
3184:
2616:Protoporphyrinogen oxidase
1750:10.1038/s41598-019-54976-4
1081:molecules into the linear
989:Chr 11: 119.08 – 119.09 Mb
432:mucosa of transverse colon
3018:Michaelis–Menten kinetics
2829:Porphobilinogen deaminase
2799:Glutathione S-transferase
2581:Porphobilinogen deaminase
2172:Lee JS, Anvret M (1992).
1308:10.3109/00365518909091544
1276:"Mouse PubMed Reference:"
1258:"Human PubMed Reference:"
1048:Porphobilinogen deaminase
1034:
1029:
1025:
1018:
1002:
983:
964:
931:
920:
901:
868:
857:
844:
840:
825:
821:
812:
799:
795:
780:
776:
767:
754:
750:
735:
731:
722:
707:
700:
696:
680:
672:heme biosynthetic process
595:
591:
574:
551:
542:
529:
478:
469:
416:
407:
377:
369:
365:
348:
335:
298:
277:
268:
264:
247:
234:
197:
174:
165:
161:
116:
113:
103:
96:
91:
68:
63:
46:
41:
36:
32:
23:
18:
2910:Diffusion-limited enzyme
2789:Dihydropteroate synthase
2576:Porphobilinogen synthase
2191:10.1073/pnas.88.23.10912
1947:10.1586/14737159.4.2.243
2686:glucuronosyltransferase
2011:10.1002/humu.1380010508
1836:10.1002/humu.1380040403
1695:10.1002/humu.1380040403
996:Chr 9: 44.25 – 44.26 Mb
2525:Porphyrin biosynthesis
2448:
2396:10.1073/pnas.86.3.1041
2344:10.1093/nar/14.15.5955
1973:Physiological Research
1935:Expert Rev. Mol. Diagn
1898:J. Inherit. Metab. Dis
1650:10.1093/nar/17.16.6637
1179:
1148:
1132:Structure and function
1115:
332:9 A5.2|9 24.84 cM
3003:Eadie–Hofstee diagram
2936:Allosteric regulation
2438:
2145:Cytogenet. Cell Genet
1787:J. Bioenerg. Biomembr
1177:
1146:
1116:
1085:while releasing four
191:Chromosome 11 (human)
3013:Lineweaver–Burk plot
2664:Biliverdin reductase
2535:early mitochondrial:
1979:(Suppl 2): S119–36.
1597:10.1039/NP9890600171
1105:
610:transferase activity
448:gastrocnemius muscle
293:Chromosome 9 (mouse)
64:List of PDB id codes
37:Available structures
2819:Farnesyltransferase
2794:Spermidine synthase
2784:Riboflavin synthase
2602:late mitochondrial:
2387:1989PNAS...86.1041V
1873:2003FaDi..122..131H
1861:Faraday Discussions
1742:2019NatSR...918577S
1344:1992Natur.359...33L
1122:hydroxymethylbilane
1083:hydroxymethylbilane
502:endocardial cushion
452:right lobe of liver
2972:Enzyme superfamily
2905:Enzyme promiscuity
2449:
2260:10.1007/BF00193588
2050:10.1007/BF00210738
1799:10.1007/BF02110034
1730:Scientific Reports
1402:10.1042/BJ20082077
1180:
1170:Reaction mechanism
1149:
1111:
802:ENSMUSG00000032126
645:Biological process
624:Cellular component
603:Molecular function
518:left lobe of liver
486:tibiofemoral joint
3128:
3127:
2837:
2836:
2809:Spermine synthase
2706:
2705:
2702:
2701:
2629:
2628:
2332:Nucleic Acids Res
2301:10.1172/JCI114869
2157:10.1159/000133123
2114:Am. J. Hum. Genet
2079:Am. J. Hum. Genet
1638:Nucleic Acids Res
1529:(23): 4687–4712.
1490:10.1042/bj2750447
1045:
1044:
1041:
1040:
1014:
1013:
979:
978:
954:
953:
916:
915:
891:
890:
853:
852:
834:
833:
808:
807:
789:
788:
763:
762:
744:
743:
692:
691:
587:
586:
583:
582:
538:
537:
525:
524:
463:
462:
428:bone marrow cells
361:
360:
260:
259:
87:
86:
83:
82:
47:Ortholog search:
3175:
3145:
3144:
3136:
3008:Hanes–Woolf plot
2951:Enzyme activator
2946:Enzyme inhibitor
2920:Enzyme catalysis
2864:
2857:
2850:
2841:
2733:
2726:
2719:
2710:
2678:
2652:
2645:
2635:Heme degradation
2604:
2569:
2537:
2530:
2507:involved in the
2498:
2491:
2484:
2475:
2443:and some in the
2418:
2408:
2398:
2365:
2355:
2322:
2312:
2279:
2242:
2213:
2203:
2193:
2168:
2139:
2129:
2104:
2094:
2069:
2031:
2013:
1988:
1966:
1929:
1892:
1881:10.1039/b201331b
1855:
1818:
1772:
1771:
1761:
1721:
1715:
1714:
1678:
1672:
1671:
1661:
1629:
1623:
1622:
1615:
1609:
1608:
1580:
1574:
1573:
1562:10.1039/b002635m
1545:
1539:
1538:
1518:
1512:
1511:
1501:
1469:
1463:
1462:
1444:
1420:
1414:
1413:
1387:
1378:
1372:
1371:
1352:10.1038/359033a0
1326:
1320:
1319:
1290:
1284:
1283:
1272:
1266:
1265:
1254:
1248:
1238:
1227:
1217:
1120:
1118:
1117:
1112:
1027:
1026:
998:
991:
974:
958:
949:
925:
921:RefSeq (protein)
911:
895:
886:
862:
838:
819:
793:
774:
748:
729:
698:
593:
579:
570:
563:
556:
549:
534:
474:
472:Top expressed in
467:
412:
410:Top expressed in
405:
384:
367:
357:
344:
333:
318:
311:
305:
294:
282:
266:
256:
243:
232:
217:
210:
204:
193:
179:
163:
157:
155:HMBS - orthologs
108:
101:
78:
61:
55:
34:
33:
28:
16:
3183:
3182:
3178:
3177:
3176:
3174:
3173:
3172:
3153:
3152:
3151:
3139:
3131:
3129:
3124:
3036:Oxidoreductases
3022:
2998:Enzyme kinetics
2986:
2982:List of enzymes
2955:
2924:
2895:Catalytic triad
2873:
2868:
2838:
2833:
2755:
2737:
2707:
2698:
2674:
2669:
2666:
2648:
2637:
2625:
2600:
2595:
2565:
2560:
2533:
2519:
2502:
2426:
2421:
2368:
2338:(15): 5955–68.
2325:
2289:J. Clin. Invest
2282:
2245:
2216:
2184:(23): 10912–5.
2171:
2142:
2107:
2072:
2034:
1991:
1969:
1932:
1895:
1858:
1821:
1784:
1780:
1778:Further reading
1775:
1723:
1722:
1718:
1680:
1679:
1675:
1644:(16): 6637–49.
1631:
1630:
1626:
1617:
1616:
1612:
1582:
1581:
1577:
1547:
1546:
1542:
1520:
1519:
1515:
1471:
1470:
1466:
1422:
1421:
1417:
1385:
1380:
1379:
1375:
1328:
1327:
1323:
1292:
1291:
1287:
1274:
1273:
1269:
1256:
1255:
1251:
1239:
1230:
1218:
1209:
1205:
1193:
1172:
1134:
1127:
1103:
1102:
1100:
1095:porphobilinogen
1079:porphobilinogen
1036:View/Edit Mouse
1031:View/Edit Human
994:
987:
984:Location (UCSC)
970:
966:
945:
941:
937:
933:
907:
903:
882:
878:
874:
870:
783:ENSG00000256269
676:
640:
619:
575:
565:
564:
558:
557:
530:
521:
516:
512:
508:
504:
500:
496:
492:
488:
484:
470:
459:
454:
450:
446:
442:
440:muscle of thigh
438:
434:
430:
426:
422:
420:trabecular bone
408:
352:
339:
331:
321:
320:
319:
312:
292:
269:Gene location (
251:
238:
230:
220:
219:
218:
211:
189:
166:Gene location (
117:
104:
97:
70:
48:
12:
11:
5:
3181:
3179:
3171:
3170:
3165:
3155:
3154:
3150:
3149:
3126:
3125:
3123:
3122:
3109:
3096:
3083:
3070:
3057:
3044:
3030:
3028:
3024:
3023:
3021:
3020:
3015:
3010:
3005:
3000:
2994:
2992:
2988:
2987:
2985:
2984:
2979:
2974:
2969:
2963:
2961:
2960:Classification
2957:
2956:
2954:
2953:
2948:
2943:
2938:
2932:
2930:
2926:
2925:
2923:
2922:
2917:
2912:
2907:
2902:
2897:
2892:
2887:
2881:
2879:
2875:
2874:
2869:
2867:
2866:
2859:
2852:
2844:
2835:
2834:
2832:
2831:
2826:
2821:
2816:
2811:
2806:
2801:
2796:
2791:
2786:
2781:
2776:
2771:
2765:
2763:
2757:
2756:
2738:
2736:
2735:
2728:
2721:
2713:
2704:
2703:
2700:
2699:
2697:
2696:
2695:
2694:
2681:
2679:
2671:
2670:
2668:
2667:
2661:
2659:Heme oxygenase
2655:
2653:
2642:
2631:
2630:
2627:
2626:
2624:
2623:
2621:Ferrochelatase
2618:
2613:
2607:
2605:
2597:
2596:
2594:
2593:
2588:
2583:
2578:
2572:
2570:
2562:
2561:
2559:
2558:
2557:
2556:
2551:
2540:
2538:
2527:
2521:
2520:
2503:
2501:
2500:
2493:
2486:
2478:
2472:
2471:
2433:
2432:
2425:
2424:External links
2422:
2420:
2419:
2366:
2323:
2280:
2243:
2214:
2169:
2151:(2–3): 105–8.
2140:
2105:
2070:
2032:
1989:
1967:
1930:
1893:
1856:
1819:
1793:(2): 197–205.
1781:
1779:
1776:
1774:
1773:
1716:
1673:
1624:
1610:
1591:(2): 171–203.
1575:
1540:
1513:
1464:
1435:(1–2): 87–92.
1415:
1373:
1338:(6390): 33–9.
1321:
1285:
1267:
1249:
1228:
1206:
1204:
1201:
1192:
1189:
1184:E1 elimination
1171:
1168:
1133:
1130:
1129:
1128:
1125:
1110:
1098:
1043:
1042:
1039:
1038:
1033:
1023:
1022:
1016:
1015:
1012:
1011:
1009:
1007:
1000:
999:
992:
985:
981:
980:
977:
976:
962:
961:
955:
952:
951:
929:
928:
922:
918:
917:
914:
913:
899:
898:
892:
889:
888:
866:
865:
859:
855:
854:
851:
850:
842:
841:
835:
832:
831:
823:
822:
816:
810:
809:
806:
805:
797:
796:
790:
787:
786:
778:
777:
771:
765:
764:
761:
760:
752:
751:
745:
742:
741:
733:
732:
726:
720:
719:
714:
709:
705:
704:
694:
693:
690:
689:
678:
677:
675:
674:
669:
664:
659:
654:
648:
646:
642:
641:
639:
638:
633:
627:
625:
621:
620:
618:
617:
612:
606:
604:
600:
599:
589:
588:
585:
584:
581:
580:
572:
571:
546:
540:
539:
536:
535:
527:
526:
523:
522:
520:
519:
515:
511:
510:abdominal wall
507:
503:
499:
495:
491:
487:
483:
479:
476:
475:
464:
461:
460:
458:
457:
453:
449:
445:
441:
437:
433:
429:
425:
421:
417:
414:
413:
401:
400:
392:
381:
375:
374:
371:RNA expression
363:
362:
359:
358:
350:
346:
345:
337:
334:
329:
323:
322:
313:
306:
300:
296:
295:
290:
284:
283:
275:
274:
262:
261:
258:
257:
249:
245:
244:
236:
233:
228:
222:
221:
212:
205:
199:
195:
194:
187:
181:
180:
172:
171:
159:
158:
115:
111:
110:
102:
94:
93:
89:
88:
85:
84:
81:
80:
66:
65:
57:
56:
45:
39:
38:
30:
29:
21:
20:
13:
10:
9:
6:
4:
3:
2:
3180:
3169:
3166:
3164:
3161:
3160:
3158:
3148:
3143:
3138:
3134:
3120:
3116:
3115:
3110:
3107:
3103:
3102:
3097:
3094:
3090:
3089:
3084:
3081:
3077:
3076:
3071:
3068:
3064:
3063:
3058:
3055:
3051:
3050:
3045:
3042:
3038:
3037:
3032:
3031:
3029:
3025:
3019:
3016:
3014:
3011:
3009:
3006:
3004:
3001:
2999:
2996:
2995:
2993:
2989:
2983:
2980:
2978:
2977:Enzyme family
2975:
2973:
2970:
2968:
2965:
2964:
2962:
2958:
2952:
2949:
2947:
2944:
2942:
2941:Cooperativity
2939:
2937:
2934:
2933:
2931:
2927:
2921:
2918:
2916:
2913:
2911:
2908:
2906:
2903:
2901:
2900:Oxyanion hole
2898:
2896:
2893:
2891:
2888:
2886:
2883:
2882:
2880:
2876:
2872:
2865:
2860:
2858:
2853:
2851:
2846:
2845:
2842:
2830:
2827:
2825:
2822:
2820:
2817:
2815:
2812:
2810:
2807:
2805:
2802:
2800:
2797:
2795:
2792:
2790:
2787:
2785:
2782:
2780:
2777:
2775:
2772:
2770:
2767:
2766:
2764:
2762:
2758:
2753:
2749:
2745:
2741:
2734:
2729:
2727:
2722:
2720:
2715:
2714:
2711:
2693:
2690:
2689:
2688:
2687:
2683:
2682:
2680:
2677:
2672:
2665:
2662:
2660:
2657:
2656:
2654:
2651:
2646:
2643:
2641:
2636:
2632:
2622:
2619:
2617:
2614:
2612:
2609:
2608:
2606:
2603:
2598:
2592:
2589:
2587:
2584:
2582:
2579:
2577:
2574:
2573:
2571:
2568:
2563:
2555:
2552:
2550:
2547:
2546:
2545:
2542:
2541:
2539:
2536:
2531:
2528:
2526:
2522:
2518:
2514:
2510:
2506:
2499:
2494:
2492:
2487:
2485:
2480:
2479:
2476:
2469:
2465:
2464:
2459:
2455:
2451:
2450:
2446:
2445:mitochondrion
2442:
2437:
2431:
2428:
2427:
2423:
2416:
2412:
2407:
2402:
2397:
2392:
2388:
2384:
2381:(3): 1041–5.
2380:
2376:
2372:
2367:
2363:
2359:
2354:
2349:
2345:
2341:
2337:
2333:
2329:
2324:
2320:
2316:
2311:
2306:
2302:
2298:
2295:(5): 1511–6.
2294:
2290:
2286:
2281:
2277:
2273:
2269:
2265:
2261:
2257:
2253:
2249:
2244:
2240:
2236:
2232:
2228:
2225:(3): 447–53.
2224:
2220:
2215:
2211:
2207:
2202:
2197:
2192:
2187:
2183:
2179:
2175:
2170:
2166:
2162:
2158:
2154:
2150:
2146:
2141:
2137:
2133:
2128:
2123:
2119:
2115:
2111:
2106:
2102:
2098:
2093:
2088:
2084:
2080:
2076:
2071:
2067:
2063:
2059:
2055:
2051:
2047:
2044:(1–2): 12–6.
2043:
2039:
2033:
2029:
2025:
2021:
2017:
2012:
2007:
2003:
1999:
1995:
1990:
1986:
1982:
1978:
1974:
1968:
1964:
1960:
1956:
1952:
1948:
1944:
1940:
1936:
1931:
1927:
1923:
1919:
1915:
1911:
1907:
1903:
1899:
1894:
1890:
1886:
1882:
1878:
1874:
1870:
1866:
1862:
1857:
1853:
1849:
1845:
1841:
1837:
1833:
1830:(4): 243–52.
1829:
1825:
1820:
1816:
1812:
1808:
1804:
1800:
1796:
1792:
1788:
1783:
1782:
1777:
1769:
1765:
1760:
1755:
1751:
1747:
1743:
1739:
1735:
1731:
1727:
1720:
1717:
1712:
1708:
1704:
1700:
1696:
1692:
1689:(4): 243–52.
1688:
1684:
1677:
1674:
1669:
1665:
1660:
1655:
1651:
1647:
1643:
1639:
1635:
1628:
1625:
1620:
1614:
1611:
1606:
1602:
1598:
1594:
1590:
1586:
1579:
1576:
1571:
1567:
1563:
1559:
1556:(6): 507–26.
1555:
1551:
1544:
1541:
1536:
1532:
1528:
1524:
1517:
1514:
1509:
1505:
1500:
1495:
1491:
1487:
1484:(2): 447–52.
1483:
1479:
1475:
1468:
1465:
1460:
1456:
1452:
1448:
1443:
1438:
1434:
1430:
1426:
1419:
1416:
1411:
1407:
1403:
1399:
1395:
1391:
1384:
1377:
1374:
1369:
1365:
1361:
1357:
1353:
1349:
1345:
1341:
1337:
1333:
1325:
1322:
1317:
1313:
1309:
1305:
1302:(7): 677–84.
1301:
1297:
1289:
1286:
1281:
1277:
1271:
1268:
1263:
1259:
1253:
1250:
1246:
1242:
1237:
1235:
1233:
1229:
1225:
1221:
1216:
1214:
1212:
1208:
1202:
1200:
1198:
1190:
1188:
1185:
1176:
1169:
1167:
1166:of the cell.
1165:
1160:
1155:
1145:
1141:
1139:
1131:
1123:
1096:
1092:
1091:
1090:
1088:
1084:
1080:
1076:
1072:
1068:
1065:
1061:
1057:
1053:
1049:
1037:
1032:
1028:
1024:
1021:
1017:
1010:
1008:
1005:
1001:
997:
993:
990:
986:
982:
975:
973:
969:
963:
959:
956:
950:
948:
944:
940:
936:
930:
926:
923:
919:
912:
910:
906:
900:
896:
893:
887:
885:
881:
877:
873:
867:
863:
860:
858:RefSeq (mRNA)
856:
849:
848:
843:
839:
836:
830:
829:
824:
820:
817:
815:
811:
804:
803:
798:
794:
791:
785:
784:
779:
775:
772:
770:
766:
759:
758:
753:
749:
746:
740:
739:
734:
730:
727:
725:
721:
718:
715:
713:
710:
706:
703:
699:
695:
688:
684:
679:
673:
670:
668:
665:
663:
660:
658:
655:
653:
650:
649:
647:
644:
643:
637:
634:
632:
629:
628:
626:
623:
622:
616:
613:
611:
608:
607:
605:
602:
601:
598:
597:Gene ontology
594:
590:
578:
573:
569:
562:
555:
550:
547:
545:
541:
533:
528:
517:
513:
509:
505:
501:
498:body of femur
497:
493:
489:
485:
481:
480:
477:
473:
468:
465:
455:
451:
447:
444:apex of heart
443:
439:
435:
431:
427:
423:
419:
418:
415:
411:
406:
403:
402:
399:
397:
393:
391:
390:
386:
385:
382:
380:
376:
372:
368:
364:
356:
351:
347:
343:
338:
328:
324:
317:
310:
304:
297:
289:
285:
281:
276:
272:
267:
263:
255:
250:
246:
242:
237:
227:
223:
216:
209:
203:
196:
192:
186:
182:
178:
173:
169:
164:
160:
156:
152:
148:
144:
140:
136:
132:
128:
124:
120:
112:
107:
100:
95:
90:
79:
77:
73:
67:
62:
59:
58:
54:
51:
44:
40:
35:
31:
27:
22:
17:
3114:Translocases
3111:
3098:
3085:
3072:
3059:
3049:Transferases
3046:
3033:
2890:Binding site
2828:
2774:Thiaminase I
2740:Transferases
2684:
2675:
2649:
2601:
2580:
2566:
2534:
2461:
2378:
2374:
2335:
2331:
2292:
2288:
2254:(6): 631–4.
2251:
2247:
2222:
2218:
2181:
2177:
2148:
2144:
2120:(2): 421–8.
2117:
2113:
2085:(3): 660–5.
2082:
2078:
2041:
2037:
2004:(5): 392–6.
2001:
1997:
1976:
1972:
1941:(2): 243–9.
1938:
1934:
1904:(1): 19–27.
1901:
1897:
1864:
1860:
1827:
1823:
1790:
1786:
1736:(1): 18577.
1733:
1729:
1719:
1686:
1682:
1676:
1641:
1637:
1627:
1613:
1588:
1585:Nat Prod Rep
1584:
1578:
1553:
1550:Nat Prod Rep
1549:
1543:
1526:
1522:
1516:
1481:
1477:
1467:
1432:
1428:
1418:
1396:(1): 17–25.
1393:
1389:
1376:
1335:
1331:
1324:
1299:
1295:
1288:
1279:
1270:
1261:
1252:
1194:
1181:
1150:
1135:
1055:
1051:
1047:
1046:
968:NP_001103721
965:
947:NP_001245138
943:NP_001245137
939:NP_001019553
932:
905:NM_001110251
902:
884:NM_001258209
880:NM_001258208
876:NM_001024382
869:
845:
826:
800:
781:
755:
736:
716:
711:
514:right kidney
394:
387:
252:119,093,834
239:119,084,866
114:External IDs
69:
2885:Active site
1523:Tetrahedron
1138:deamination
1089:molecules:
490:human fetus
424:bone marrow
353:44,255,525
340:44,247,636
92:Identifiers
3157:Categories
3088:Isomerases
3062:Hydrolases
2929:Regulation
2567:cytosolic:
2509:metabolism
2248:Hum. Genet
2038:Hum. Genet
1998:Hum. Mutat
1824:Hum. Mutat
1683:Hum. Mutat
1478:Biochem. J
1390:Biochem. J
1247:, May 2017
1226:, May 2017
1203:References
398:(ortholog)
135:HomoloGene
2967:EC number
2517:porphyrin
2441:cytoplasm
1429:FEBS Lett
1191:Pathology
1164:cytoplasm
1109:⇌
972:NP_038579
935:NP_000181
909:NM_013551
872:NM_000190
702:Orthologs
636:cytoplasm
143:GeneCards
3168:EC 2.5.1
2991:Kinetics
2915:Cofactor
2878:Activity
2447:(yellow)
2276:28858687
2219:Genomics
2066:19680295
2028:10575526
1985:17298216
1963:21392441
1955:14995910
1918:14970743
1889:12555854
1852:24402776
1815:41764609
1768:31819097
1711:24402776
1570:11152419
1459:13483654
1410:19207107
1243:–
1222:–
1159:arginine
1154:cofactor
1067:2.5.1.61
1058:) is an
1020:Wikidata
681:Sources:
506:yolk sac
3147:Biology
3101:Ligases
2871:Enzymes
2650:spleen:
2505:Enzymes
2468:PDBe-KB
2458:UniProt
2415:2915972
2383:Bibcode
2362:2875434
2319:2243128
2268:2227955
2239:1981047
2210:1961762
2165:1914516
2136:1714233
2127:1683312
2101:1496994
2092:1682727
2058:1427766
2020:1301948
1926:9504522
1869:Bibcode
1844:7866402
1807:7592566
1759:6901466
1738:Bibcode
1703:7866402
1668:2789372
1605:2664584
1508:2025226
1499:1150073
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