4.2.1.75: uroporphyrinogen-III synthase
This is an abbreviated version!
For detailed information about uroporphyrinogen-III synthase, go to the full flat file.
Word Map on EC 4.2.1.75
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4.2.1.75
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porphyria
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erythropoietic
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heme
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photosensitivity
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5-aminolevulinic
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tetrapyrrole
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coproporphyrins
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delta-aminolevulinic
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ferrochelatase
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pbgase
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mutilate
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erythrodontia
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transfusion-dependent
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protoporphyria
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hypertrichosis
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urologists
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coproporphyrinogen
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aymaras
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amerindian
- 4.2.1.75
- porphyria
-
erythropoietic
- heme
-
photosensitivity
-
5-aminolevulinic
- tetrapyrrole
- coproporphyrins
-
delta-aminolevulinic
-
ferrochelatase
-
pbgase
-
mutilate
-
erythrodontia
-
transfusion-dependent
- protoporphyria
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hypertrichosis
-
urologists
- coproporphyrinogen
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aymaras
-
amerindian
Reaction
Synonyms
CobA/HemD, Hydroxymethylbilane hydrolyase [cyclizing], hydroxymethylbilane hydrolyase, cyclizing, Isomerase, uroporphyrinogen, Porphobilinogenase, Synthase, uroporphyrinogen III co-, U3S, URO synthase, uro'gen III synthase, URO-synthase, UROIIIS, Uroporphyrinogen III co-synthase, Uroporphyrinogen III cosynthase, Uroporphyrinogen III synthase, Uroporphyrinogen isomerase, Uroporphyrinogen-III cosynthase, Uroporphyrinogen-III cosynthetase, uroporphyrinogen-III-synthase, UROS
ECTree
4.2.1.75 uroporphyrinogen-III synthaseAdvanced search results
results (
results (Engineering
Engineering on EC 4.2.1.75 - uroporphyrinogen-III synthase
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PROTEIN VARIANTS 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
A104V
A66V
A69T
C73A
C73D
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computational modeling, structure comparison with the wild-type enzyme and the other C73 mutants
C73L
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computational modeling, structure comparison with the wild-type enzyme and the other C73 mutants
C73N
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computational modeling, structure comparison with the wild-type enzyme and the other C73 mutants
C73R
C73R/A69E
the mutant shows reduced activity compared to the wild type enzyme
C73R/L43D
the mutant shows slightly increased activity compared to the wild type enzyme
C73S
C73Y
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computational modeling, structure comparison with the wild-type enzyme and the other C73 mutants
E127A
site-directed mutagenesis, unaltered activity level compared to the wild-type enzyme
E81D
G188R
G188W
G225S
G236V
H173Y
I129T
I219S
K220A
site-directed mutagenesis, slightly increased activity compared to the wild-type enzyme
L237P
L4F
P248Q
P53L
Q187P
R65A
site-directed mutagenesis, slightly reduced activity compared to the wild-type enzyme
S197A
site-directed mutagenesis, unaltered activity level compared to the wild-type enzyme
S212P
S47P
S63A
site-directed mutagenesis, unaltered activity level compared to the wild-type enzyme
T103A
site-directed mutagenesis, reduced activity compared to the wild-type enzyme
T227A
site-directed mutagenesis, slightly increased activity compared to the wild-type enzyme
T228A
site-directed mutagenesis, conserved residue near to the active site cleft, reduced activity compared to the wild-type enzyme
T228M
T62A
V3F
V82F
V99A
Y168A
site-directed mutagenesis, reduced activity compared to the wild-type enzyme
Y19C
E114A
site-directed mutagenesis, the mutant shows activity slightly reduced compared to the wild-type enzyme
E38A
site-directed mutagenesis, the mutant shows activity similar to the wild-type enzyme
L116A
site-directed mutagenesis, the mutant shows activity slightly reduced compared to the wild-type enzyme
R164A
site-directed mutagenesis, the mutation causes a decrease in enzymatic activity to about 70% that of the wild-type enzyme
R219A
site-directed mutagenesis, the mutation causes a decrease in enzymatic activity to about 25% that of the wild-type enzyme
E114A
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site-directed mutagenesis, the mutant shows activity slightly reduced compared to the wild-type enzyme
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E38A
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site-directed mutagenesis, the mutant shows activity similar to the wild-type enzyme
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L116A
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site-directed mutagenesis, the mutant shows activity slightly reduced compared to the wild-type enzyme
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R164A
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site-directed mutagenesis, the mutation causes a decrease in enzymatic activity to about 70% that of the wild-type enzyme
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R219A
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site-directed mutagenesis, the mutation causes a decrease in enzymatic activity to about 25% that of the wild-type enzyme
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D112G
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site-directed mutagenesis, 50% reduced activity compared to the wild-type enzyme
R15Q
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site-directed mutagenesis, unaltered activity level compared to the wild-type enzyme
S68A
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site-directed mutagenesis, unaltered activity level compared to the wild-type enzyme
T100A
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site-directed mutagenesis, 75% reduced activity compared to the wild-type enzyme
Y166F
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site-directed mutagenesis, more than 99% reduced activity compared to the wild-type enzyme
additional information
A104V
a naturally occuring mutation, 60.6% activity compared to the wild-type enzyme
A104V
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a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria
A66V
a naturally occuring mutation, 95.6% activity compared to the wild-type enzyme
A66V
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a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria
A69T
a naturally occuring mutation, 24.4% activity compared to the wild-type enzyme
A69T
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a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria
C73A
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computational modeling, structure comparison with the wild-type enzyme and the other C73 mutants
C73R
a frequent, naturally occuring mutation of a residue of the stabilizing helical region, 14.5% activity compared to the wild-type enzyme
C73R
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a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria, the mutant protein retains partial catalytic activity but shows reduced the enzyme stability
C73R
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a naturally occuring mutation in the enzyme responsible for more than one-third of all of the reported cases of the rare autosomal disease congenital erythropoietic porphyria. The mutant protein retains partial catalytic activity but shows reduced the enzyme stability
C73R
the substitution drastically reduces the enzyme activity (1500fold) and stability compared to the wild type enzyme
C73S
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computational modeling, structure comparison with the wild-type enzyme and the other C73 mutants
E81D
a naturally occuring mutation, unaltered activity compared to the wild-type enzyme
E81D
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a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria
G188R
a naturally occuring mutation, 41.4% activity compared to the wild-type enzyme
G188R
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a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria
G188W
a naturally occuring mutation, 31.6% activity compared to the wild-type enzyme
G188W
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a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria
G225S
a naturally occuring mutation, 32.4% activity compared to the wild-type enzyme
G225S
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a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria
G236V
a naturally occuring mutation, 34.0% activity compared to the wild-type enzyme
G236V
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a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria
H173Y
a naturally occuring mutation, 72.6% activity compared to the wild-type enzyme
H173Y
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a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria
I129T
a naturally occuring mutation, 20.0% activity compared to the wild-type enzyme
I129T
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a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria
I219S
a naturally occuring mutation, 85.0% activity compared to the wild-type enzyme
I219S
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a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria
L237P
a naturally occuring mutation, 57.9% activity compared to the wild-type enzyme
L237P
the mutation is associated with congenital erythropoietic porphyria
L237P
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a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria
L4F
a naturally occuring mutation, 20.2% activity compared to the wild-type enzyme
L4F
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a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria
P248Q
a naturally occuring mutation, 29.2% activity compared to the wild-type enzyme
P248Q
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a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria
P53L
a naturally occuring mutation, inactive mutant, no purification of the recombinant mutant
P53L
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a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria
Q187P
a naturally occuring mutation, 15.0% activity compared to the wild-type enzyme
Q187P
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a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria
S212P
a naturally occuring mutation, 20.0% activity compared to the wild-type enzyme
S212P
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a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria
S47P
a naturally occuring mutation, unaltered activity compared to the wild-type enzyme
S47P
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a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria
T228M
a naturally occuring mutation, 97.5% activity compared to the wild-type enzyme
T228M
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a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria
T62A
site-directed mutagenesis, conserved residue near to the active site cleft, unaltered activity level compared to the wild-type enzyme
T62A
a naturally occuring mutation, 1.2% activity compared to the wild-type enzyme
T62A
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a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria
V3F
a naturally occuring mutation, 19.3% activity compared to the wild-type enzyme
V3F
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a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria
V82F
a naturally occuring mutation, 93.8% activity compared to the wild-type enzyme
V82F
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a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria
V99A
a naturally occuring mutation, 88.2% activity compared to the wild-type enzyme
V99A
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a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria
Y19C
a naturally occuring mutation, 13.1% activity compared to the wild-type enzyme
Y19C
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a naturally occuring mutation in the enzyme involved in congenital erythropoietic porphyria
additional information
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16 known mutations causing congenital erythropoietic porphyria in humans via alterations of the tertiary enzyme structure
additional information
the naturally occuring clinical mutations lead to loss in activity due to structural alterations in the enzymes, overview
additional information
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the naturally occuring clinical mutations lead to loss in activity due to structural alterations in the enzymes, overview
additional information
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identification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria. Identification of four different mutations: C73R, a hotspot mutation, the promoter mutation 86A, and two missense mutations, designated G236V and L237P, the latter one encounters in the homozygous state in one of the patients
additional information
changes in the unfolding rate, relative to wild type, overview. Cloning, expression, and analysis of 25 missense mutants from congenital erythropoietic porphyria, CEP, patients, genotyping, overview
additional information
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changes in the unfolding rate, relative to wild type, overview. Cloning, expression, and analysis of 25 missense mutants from congenital erythropoietic porphyria, CEP, patients, genotyping, overview
additional information
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genotype/phenotype analysis of the studied cases of congenital erythropoietic porphyria, overview
