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Literature summary for 2.5.1.61 extracted from

  • 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 (2009), Biochem. J., 420, 17-25.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
Escherichia coli BL21(DE3) pLysS with pUHD2 plasmid Homo sapiens

Crystallization (Commentary)

Crystallization (Comment) Organism
vapor diffusion method, hanging drops with 20 mM Tris-HCl buffer, pH 8.2, containing 5 mM dithiothreitol and reservoir solution consisting of 0.6 M ammonium sulfate, 1.2 M lithium sulfate, 5% ethylene glycol, 50 mM sodium citrate, pH 5.6, and 50 mM dithiothreitol, diffraction data are collected at -173°C in 30% glycerol cryoprotected protein crystals Homo sapiens

Protein Variants

Protein Variants Comment Organism
R167Q 8.5% activity, reduced pH optimum from 8.0 to 6.0, accumulates long-lived intermediate complexes Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
4 porphobilinogen + H2O Homo sapiens
-
hydroxymethylbilane + 4 NH3
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens P08397
-
-

Purification (Commentary)

Purification (Comment) Organism
cells centrifuged, washed with 0.9 M NaCl, re-centrifuged, washed with 20 mM Tris-HCl buffer, pH 8.2, with 5 mM dithiothreitol, and 200 microM PMSF, sonication, heating to 60°C under N2 gas, cooled to 4°C, supernatant applied to a Pharmacia 50 K/30 column packed with DEAE-Sephacel anion-exchange resin, equilibrated with 50 mM Tris-HCl buffer, pH 8.2 containing 5 mM dithiothreitol, and 100 microM PMSF, elution with 0-70 mM KCl gradient, active fractions are pooled and concentrated by ultrafiltration with a PM-10 membrane, further concentrated with a Centricon YM-10 centrifugal filter and gel-filtered on a Hiload 16/60 Superdex G-75 column, equilibrated with 100 mM Tris-HCl buffer, pH 8.2, containing 5 mM dithiothreitol and 100 microM PMSF, concentrated with a Centricon YM-10, buffer-exchanged into 20 mM Tris-HCl buffer, pH 8.2, containing 5 mM dithiothreitol with a Pharmacia PD10 column Homo sapiens

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
0.002
-
R167Q mutant, pH 8.0 Homo sapiens
0.023
-
wild type, pH 8.0 Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4 porphobilinogen + H2O
-
Homo sapiens hydroxymethylbilane + 4 NH3
-
?

Synonyms

Synonyms Comment Organism
human PBGD
-
Homo sapiens
human porphobilinogen deaminase
-
Homo sapiens
hydroxymethylbilane synthase
-
Homo sapiens
preuroporphyrinogen synthase
-
Homo sapiens
uPBGD ubiquitous PBGD, espressed in all cells Homo sapiens
uroporphyrinogen I synthase
-
Homo sapiens

Cofactor

Cofactor Comment Organism Structure
dipyrromethane
-
Homo sapiens

General Information

General Information Comment Organism
malfunction mutation causes acute intermittent porphyria Homo sapiens
metabolism third enzyme in heme biosynthesis pathway in mammals Homo sapiens