Reference on EC 2.5.1.61 - hydroxymethylbilane synthase
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REF. 
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Wright, D.J.; Lim, C.K.
Simultaneous determination of hydroxymethylbilane synthase and uroporphyrinogen III synthase in erythrocytes by high-performance liquid chromatography
Biochem. J.
213
85-88
1983
Homo sapiens
Frydman, R.B.; Feinstein, G.
Studies on porphobilinogen deaminase and uroporphyrinogen III cosynthase from human erythrocytes
Biochim. Biophys. Acta
350
358-373
1974
Homo sapiens
Jordan, P.M.; Berry, A.
Preuroporphyrinogen, a universal intermediate in the biosynthesis of uroporphyrinogen III
FEBS Lett.
112
86-88
1980
Cereibacter sphaeroides, Cereibacter sphaeroides NCIB 8253
Levin, E.Y.; Coleman, D.L.
The enzymatic conversion of porphobilinogen to uroporphyrinogen catalyzed by extracts of hematopoietic mouse spleen
J. Biol. Chem.
242
4248-4253
1967
Mus musculus, Spinacia oleracea
-
Jordan, P.M.; Shemin, D.
Purification and properties of uroporphyrinogen I synthetase from Rhodopseudomonas spheroides
J. Biol. Chem.
248
1019-1024
1973
Cereibacter sphaeroides
Davies, R.C.; Neuberger, A.
Polypyrroles formed from porphobilinogen and amines by uroporphyrinogen synthetase of Rhodopseudomonas spheroides
Biochem. J.
133
471-492
1973
Bos taurus, Glycine max, Cereibacter sphaeroides, Spinacia oleracea, Triticum aestivum, Cereibacter sphaeroides NCIB 8253
Miyagi, K.; Kaneshima, M.; Kawakami, J.; Nakada, F.; Petryka, Z.J.; Watson, C.J.
Uroporphyrinogen I synthetase from human erythrocytes: Separation, purification, and properties of isoenzymes
Proc. Natl. Acad. Sci. USA
76
6172-6176
1979
Bos taurus, Cereibacter sphaeroides, Homo sapiens, Spinacia oleracea
Anderson, P.M.; Desnick, R.J.
Purification and properties of uroporphyrinogen I synthase from human erythrocytes
J. Biol. Chem.
255
1993-1999
1980
Homo sapiens
Battersby, A.R.; Fookes, C.J.R.; Matcham, G.W.J.; McDonald, E.
Biosynthesis of the pigments of life: formation of the macrocycle
Nature
285
17-19
1980
Gallus gallus, Euglena gracilis, Propionibacterium freudenreichii subsp. shermanii
Shioi, Y.; Nagamine, M.; Kuroki, M.; Sasa, T.
Purification by affinity chromatography and properties of uroporphyrinogen I synthetase from Chlorella regularis
Biochim. Biophys. Acta
616
300-309
1980
Chlorella regularis, Cereibacter sphaeroides, Spinacia oleracea, Triticum aestivum, Chlorella regularis S-50
Russell, C.S.; Rockwell, P.
The effects of sulfhydryl reagents on the activity of wheat germ uroporphyrinogen I synthase
FEBS Lett.
116
199-202
1980
Triticum aestivum
Williams, D.C.; Morgan, G.S.; McDonald, E.; Battersby, A.R.
Purification of porphobilinogen deaminase from Euglena gracilis and studies of its kinetics
Biochem. J.
193
301-310
1981
Euglena gracilis
Williams, D.C.
Characterization of the multiple forms of hydroxymethylbilane synthase from rat spleen
Biochem. J.
217
675-683
1984
Rattus norvegicus
Farmer, D.J.; Hollebone, B.R.
Comparative inhibition of hepatic hydroxymethylbilane synthase by both hard and soft metal cations
Can. J. Biochem. Cell Biol.
62
49-54
1984
Rattus norvegicus, Rattus norvegicus Sprague-Dawley
Brown, R.C.; Elder, G.H.; Urquhart, A.J.
Purification of hydroxymethylbilane synthase from human erythrocytes
Biochem. Soc. Trans.
13
1227-1228
1985
Homo sapiens
-
Helliwell, J.R.; Nieh, Y.P.; Raftery, J.; Cassata, A.; Habash, J.; Carr, P.D.; Ursby, T.; Wulff, M.; Thompson, A.W.; Niemann, A.C.; Haedener, A.
Time-resolved structures of hydroxymethylbilane synthase (Lys59Gln mutant) as it is loaded with substrate in the crystal determined by Laue diffraction
J. Chem. Soc. Faraday Trans.
94
2615-2622
1998
Escherichia coli
-
Hart, G.J.; Abell, C.; Battersby, A.R.
Purification, N-terminal amino acid sequence and properties of hydroxymethylbilane synthase (porphobilinogen deaminase) from Escherichia coli
Biochem. J.
240
273-276
1986
Escherichia coli
Mazzetti, M.B.; Tomio, J.M.
Purification and some properties of rat liver uroporphyrinogen I synthase
Anal. Asoc. Quim. Argent.
76
207-215
1988
Chlorella regularis, Escherichia coli, Homo sapiens, Rattus norvegicus, Spinacia oleracea
-
Miller, A.D.; Hart, G.J.; Packman, L.C.; Battersby, A.R.
Evidence that the pyrromethane cofactor of hydroxymethylbilane synthase (porphobilinogen deaminase) is bound to the protein through the sulphur atom of cysteine-242
Biochem. J.
254
915-918
1988
Escherichia coli, Escherichia coli TG1
Beifuss, U.; Hart, G.J.; Miller, A.D.; Battersby, A.R.
13C-N.M.R. Studies on the pyrromethane cofactor of hydroxymethylbilane synthase
Tetrahedron Lett.
29
2591-2594
1988
Escherichia coli
-
Smythe, E.; Williams, D.C.
A simple rapid purification scheme for hydroxymethylbilane synthase from human erythrocytes
Biochem. J.
251
237-241
1988
Homo sapiens
Lannfelt, L.; Wetterberg, L.; Lilius, L.; Thunell, S.; Joernvall, H.; Pavlu, B.; Wielburski, A.; Gellerfors, P.
Porphobilinogen deaminase in human erythrocytes
Scand. J. Clin. Lab. Invest.
49
677-684
1989
Homo sapiens
Sharif, A.; Smith, A.G.; Abell, C.
Isolation and characterisation of cDNA clone for chlorophyll synthesis enzyme from Euglena gracilis
Eur. J. Biochem.
184
353-359
1989
Escherichia coli, Euglena gracilis, Homo sapiens, Rattus norvegicus
Haedener, A.; Alefounder, P.; Hart, G.J.; Abell, C.; Battersby, A.R.
Investigation of putative active-site lysine residues in C
Biochem. J.
271
487-491
1990
Escherichia coli
Corrigall, A.V.; Meissner, P.N.; Kirsch, R.E.
Purification of human erythrocyte porphobilinogen deaminase
S. Afr. Med. J.
80
294-269
1991
Homo sapiens
Spano, A.J.; Timko, M.P.
Isolation, characterization and partial amino acid sequence of a chloroplast-localized porphobilinogen deaminase from pea (Pisum sativum L.)
Biochim. Biophys. Acta
1076
29-36
1991
Glycine max, Pisum sativum
Jordan, P.M; Warren, M.J.; Mgbeje, B.I.A.; Wood, S.P.; Cooper, J.B.; Louie, G.; Brownlie, P.; Lambert, R.; Blundell, T.L.
Crystallization and preliminary X-ray investigation of Escherichia coli porphobilinogen deaminase.
J. Mol. Biol.
224
269-271
1992
Escherichia coli
Meissner, P.; Adams, P.; Kirsch, R.
Allosteric inhibition of human lymphoblast and purified porphobilinogen deaminase by protoporphyrinogen and coproporphyrinogen
J. Clin. Invest.
91
1436-1444
1993
Homo sapiens
Haedener, A.; Matzinger, P.K.; Malashkevich, V.N.; Louie, G.V.; Wood, S.P.; Oliver, P.; Alefounder, P.R.; Pitt, A.R.; Abell, C.; Battersby, A.R.
Purification, characterization, crystallisation and X-ray analysis of selenomethionine-labelled hydroxymethylbilane synthase from Escherichia coli
Eur. J. Biochem.
211
615-624
1993
Escherichia coli
Araujo, L.S.; Lombardo, M.E.; Batlle, A.M.D.C.
Inhibition of porphobilinogenase by porphyrins in Saccharomyces cerevisiae
Int. J. Biochem.
26
1377-1381
1994
Saccharomyces cerevisiae
Juknat, A.A.; Doernemann, D.; Senger, H.
Purification and kinetic studies on a porphobilinogen deaminase from the unicellular green alga Scenedesmus obliquus
Planta
193
123-130
1994
Saccharomyces cerevisiae, Chlorella regularis, Escherichia coli, Euglena gracilis, Homo sapiens, Pisum sativum, Rattus norvegicus, Cereibacter sphaeroides, Tetradesmus obliquus, Spinacia oleracea
-
Jones, R.M.; Jordan, P.M.
Purification and properties of porphobilinogen deaminase from Arabidopsis thaliana
Biochem. J.
299
895-902
1994
Arabidopsis thaliana
-
Cardalda, C.A.; Juknat, A.A.; Princ, F.G.; Batlle, A.
Rat harderian gland porphobilinogen deaminase: characterization studies and regulatory action of protoporphyrin IX
Arch. Biochem. Biophys.
347
69-77
1997
Rattus norvegicus
Shoolingin-Jordan, P.M.; Al-Dbass, A.; McNeill, L.A.; Sarwar, M.; Butler, D.
Human porphobilinogen deaminase mutations in the investigation of the mechanism of dipyrromethane cofactor assembly and tetrapyrrole formation
Biochem. Soc. Trans.
31
731-735
2003
Homo sapiens
Schneider-Yin, X.; Hergersberg, M.; Schuurmans, M.M.; Gregor, A.; Minder, E.I.
Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs
J. Inherit. Metab. Dis.
27
625-631
2004
Homo sapiens
Gruenberg-Etkovitz, N.; Greenbaum, L.; Grinblat, B.; Malik, Z.
Proteasomal degradation regulates expression of porphobilinogen deaminase (PBGD) mutants of acute intermittent porphyria
Biochim. Biophys. Acta
1762
819-827
2006
Homo sapiens
Sardh, E.; Rejkjaer, L.; Andersson, D.E.; Harper, P.
Safety, pharmacokinetics and pharmocodynamics of recombinant human porphobilinogen deaminase in healthy subjects and asymptomatic carriers of the acute intermittent porphyria gene who have increased porphyrin precursor excretion
Clin. Pharmacokinet.
46
335-349
2007
Homo sapiens
Poblete-Gutierrez, P.; Wiederholt, T.; Martinez-Mir, A.; Merk, H.F.; Connor, J.M.; Christiano, A.M.; Frank, J.
Demystification of Chester porphyria: a nonsense mutation in the porphobilinogen deaminase gene
Physiol. Res.
55 Suppl 2
S137-S144
2006
Homo sapiens (P08397)
Ulbrichova, D.; Flachsova, E.; Hrdinka, M.; Saligova, J.; Bazar, J.; Raman, C.S.; Martasek, P.
De Novo mutation found in the porphobilinogen deaminase gene in Slovak acute intermittent porphyria patient: molecular biochemical study
Physiol. Res.
55 Suppl 2
S145-S154
2006
Homo sapiens
Brons-Poulsen, J.; Christiansen, L.; Petersen, N.E.; Horder, M.; Kristiansen, K.
Characterization of two isoalleles and three mutations in both isoforms of purified recombinant human porphobilinogen deaminase
Scand. J. Clin. Lab. Invest.
65
93-105
2005
Homo sapiens
Wang, Y.; Scott, C.R.; Gelb, M.H.; Turecek, F.
Direct assay of enzymes in heme biosynthesis for the detection of porphyrias by tandem mass spectrometry. Porphobilinogen deaminase
Anal. Chem.
80
2606-2611
2008
Homo sapiens (P08397), Homo sapiens
Yang, C.C.; Kuo, H.C.; You, H.L.; Wang, J.; Huang, C.C.; Liu, C.Y.; Lan, M.Y.; Stephenson, D.A.; Lee, M.J.
HMBS mutations in Chinese patients with acute intermittent porphyria
Ann. Hum. Genet.
72
683-686
2008
Homo sapiens
Li, N.; Chu, X.; Wu, L.; Liu, X.; Li, D.
Functional studies of rat hydroxymethylbilane synthase
Bioorg. Chem.
36
241-251
2008
Rattus norvegicus (P19356)
Nagaraj, V.A.; Arumugam, R.; Gopalakrishnan, B.; Jyothsna, Y.S.; Rangarajan, P.N.; Padmanaban, G.
Unique properties of Plasmodium falciparum porphobilinogen deaminase
J. Biol. Chem.
283
437-444
2008
Plasmodium falciparum (A8CBH8), Plasmodium falciparum
Schneider-Yin, X.; Ulbrichova, D.; Mamet, R.; Martasek, P.; Marohnic, C.C.; Goren, A.; Minder, E.I.; Schoenfeld, N.
Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria
Mol. Genet. Metab.
94
343-346
2008
Homo sapiens
Lobo, S.A.; Brindley, A.; Warren, M.J.; Saraiva, L.M.
Functional characterization of the early steps of tetrapyrrole biosynthesis and modification in Desulfovibrio vulgaris Hildenborough
Biochem. J.
420
317-325
2009
Desulfovibrio vulgaris
Clavero, S.; Bishop, D.F.; Haskins, M.E.; Giger, U.; Kauppinen, R.; Desnick, R.J.
Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations
Hum. Mol. Genet.
19
584-596
2010
Felis catus (D3W810), Felis catus (D3W811), Felis catus (D3W812), Felis catus
Ulbrichova-Douderova, D.; Martasek, P.
Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis
Anal. Biochem.
395
41-48
2009
Homo sapiens (P08397)
Gill, R.; Kolstoe, S.E.; Mohammed, F.; Al D-Bass, A.; Mosely, J.E.; Sarwar, M.; Cooper, J.B.; Wood, S.P.; Shoolingin-Jordan, P.M.
Structure of human porphobilinogen deaminase at 2.8 A: the molecular basis of acute intermittent porphyria
Biochem. J.
420
17-25
2009
Homo sapiens (P08397), Homo sapiens
Ulbrichova, D.; Hrdinka, M.; Saudek, V.; Martasek, P.
Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties
FEBS J.
276
2106-2115
2009
Homo sapiens (P08397), Homo sapiens
Unzu, C.; Sampedro, A.; Mauleon, I.; Vanrell, L.; Dubrot, J.; de Salamanca, R.E.; Gonzalez-Aseguinolaza, G.; Melero, I.; Prieto, J.; Fontanellas, A.
Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute intermittent porphyria
J. Hepatol.
52
417-424
2010
Homo sapiens (P08397), Homo sapiens, Mus musculus (P22907), Mus musculus
Huang, M.; Slewinski, T.L.; Baker, R.F.; Janick-Buckner, D.; Buckner, B.; Johal, G.S.; Braun, D.M.
Camouflage patterning in maize leaves results from a defect in porphobilinogen deaminase
Mol. Plant
2
773-789
2009
Zea mays
Zhou, S.; Narukami, T.; Nameki, M.; Ozawa, T.; Kamimura, Y.; Hoshino, T.; Takaya, N.
Heme-biosynthetic porphobilinogen deaminase protects Aspergillus nidulans from nitrosative stress
Appl. Environ. Microbiol.
78
103-109
2012
Aspergillus nidulans (C8VQK3), Aspergillus nidulans
Roberts, A.; Gill, R.; Hussey, R.J.; Mikolajek, H.; Erskine, P.T.; Cooper, J.B.; Wood, S.P.; Chrystal, E.J.; Shoolingin-Jordan, P.M.
Insights into the mechanism of pyrrole polymerization catalysed by porphobilinogen deaminase: high-resolution X-ray studies of the Arabidopsis thaliana enzyme
Acta Crystallogr. Sect. D
69
471-485
2013
Arabidopsis thaliana (Q43316), Arabidopsis thaliana
Azim, N.; Deery, E.; Warren, M.J.; Wolfenden, B.A.; Erskine, P.; Cooper, J.B.; Coker, A.; Wood, S.P.; Akhtar, M.
Structural evidence for the partially oxidized dipyrromethene and dipyrromethanone forms of the cofactor of porphobilinogen deaminase: structures of the Bacillus megaterium enzyme at near-atomic resolution
Acta Crystallogr. Sect. D
70
744-751
2014
Priestia megaterium (D5DT75), Priestia megaterium, Priestia megaterium ATCC 12872 (D5DT75)
Azim, N.; Deery, E.; Warren, M.J.; Erskine, P.; Cooper, J.B.; Wood, S.P.; Akhtar, M.
Crystallization and preliminary X-ray characterization of the tetrapyrrole-biosynthetic enzyme porphobilinogen deaminase from Bacillus megaterium
Acta Crystallogr. Sect. F
69
906-908
2013
Priestia megaterium (D5DT75), Priestia megaterium, Priestia megaterium ATCC 12872 (D5DT75)
Bustad, H.; Vorland, M.; Roenneseth, E.; Sandberg, S.; Martinez, A.; Toska, K.
Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria
Biosci. Rep.
33
617-626
2013
Homo sapiens (P08397)
Bung, N.; Pradhan, M.; Srinivasan, H.; Bulusu, G.
Structural insights into E. coli porphobilinogen deaminase during synthesis and exit of 1-hydroxymethylbilane
PLoS Comput. Biol.
10
e1003484
2014
Escherichia coli (P06983), Escherichia coli
Chakrabarty, B.; Das, D.; Bung, N.; Roy, A.; Bulusu, G.
Network analysis of hydroxymethylbilane synthase dynamics
J. Mol. Graph. Model.
99
107641
2020
Homo sapiens (P08397), Homo sapiens
Bung, N.; Roy, A.; Priyakumar, U.D.; Bulusu, G.
Computational modeling of the catalytic mechanism of hydroxymethylbilane synthase
Phys. Chem. Chem. Phys.
21
7932-7940
2019
Homo sapiens (P08397), Homo sapiens
Bung, N.; Roy, A.; Chen, B.; Das, D.; Pradhan, M.; Yasuda, M.; New, M.I.; Desnick, R.J.; Bulusu, G.
Human hydroxymethylbilane synthase Molecular dynamics of the pyrrole chain elongation identifies step-specific residues that cause AIP
Proc. Natl. Acad. Sci. USA
115
E4071-E4080
2018
Homo sapiens (P08397), Homo sapiens
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