Literature summary extracted from
Macias, I.; Lain, A.; Bernardo-Seisdedos, G.; Gil, D.; Gonzalez, E.; Falcon-Perez, J.M.; Millet, O.
Hereditary tyrosinemia type I-associated mutations in fumarylacetoacetate hydrolase reduce the enzyme stability and increase its aggregation rate (2019), J. Biol. Chem., 294, 13051-13060 .
Protein Variants
EC Number |
Protein Variants |
Comment |
Organism |
---|
3.7.1.2 |
A134D |
activity is less than 5% compared to wild-type activity |
Homo sapiens |
3.7.1.2 |
A35T |
activity is about 15% compared to wild-type activity |
Homo sapiens |
3.7.1.2 |
C193R |
no activity |
Homo sapiens |
3.7.1.2 |
D233V |
activity is about 5% compared to wild-type activity |
Homo sapiens |
3.7.1.2 |
F62C |
activity is about 20% compared to wild-type activity |
Homo sapiens |
3.7.1.2 |
G158D |
no activity |
Homo sapiens |
3.7.1.2 |
G207D |
activity is less than 10% compared to wild-type activity |
Homo sapiens |
3.7.1.2 |
G337S |
activity is about 5% compared to wild-type activity |
Homo sapiens |
3.7.1.2 |
G343W |
activity is about % compared to wild-type activity |
Homo sapiens |
3.7.1.2 |
G369V |
activity is about % compared to wild-type activity |
Homo sapiens |
3.7.1.2 |
N16I |
no activity |
Homo sapiens |
3.7.1.2 |
P249T |
activity is about 10% compared to wild-type activity |
Homo sapiens |
3.7.1.2 |
P261L |
activity is about 5% compared to wild-type activity |
Homo sapiens |
3.7.1.2 |
P342L |
activity is about 95% compared to wild-type activity |
Homo sapiens |
3.7.1.2 |
R381G |
activity is about % compared to wild-type activity |
Homo sapiens |
3.7.1.2 |
T294P |
activity is about 45% compared to wild-type activity |
Homo sapiens |
3.7.1.2 |
V166G |
activity is about 70% compared to wild-type activity |
Homo sapiens |
3.7.1.2 |
W234G |
activity is about 10% compared to wild-type activity |
Homo sapiens |
KM Value [mM]
EC Number |
KM Value [mM] |
KM Value Maximum [mM] |
Substrate |
Comment |
Organism |
Structure |
---|
3.7.1.2 |
0.0252 |
- |
4-Fumarylacetoacetate |
pH 7.4, 22°C |
Homo sapiens |
|
Natural Substrates/ Products (Substrates)
EC Number |
Natural Substrates |
Organism |
Comment (Nat. Sub.) |
Natural Products |
Comment (Nat. Pro.) |
Rev. |
Reac. |
---|
3.7.1.2 |
4-fumarylacetoacetate + H2O |
Homo sapiens |
- |
acetoacetate + fumarate |
- |
? |
|
Organic Solvent Stability
EC Number |
Organic Solvent |
Comment |
Organism |
---|
3.7.1.2 |
guanidine-HCl |
chemical denaturation using guanidinium chloride at a physiological temperature (37 °C) is reversible |
Homo sapiens |
Organism
EC Number |
Organism |
UniProt |
Comment |
Textmining |
---|
3.7.1.2 |
Homo sapiens |
P16930 |
- |
- |
Purification (Commentary)
EC Number |
Purification (Comment) |
Organism |
---|
3.7.1.2 |
- |
Homo sapiens |
Substrates and Products (Substrate)
EC Number |
Substrates |
Comment Substrates |
Organism |
Products |
Comment (Products) |
Rev. |
Reac. |
---|
3.7.1.2 |
4-fumarylacetoacetate + H2O |
- |
Homo sapiens |
acetoacetate + fumarate |
- |
? |
|
Subunits
EC Number |
Subunits |
Comment |
Organism |
---|
3.7.1.2 |
dimer |
at physiological temperatures and concentrations, the wild-type enzyme (FAH) is in equilibrium between a catalytically active dimer and a monomeric species, with the latter being inactive and prone to oligomerization and aggregation |
Homo sapiens |
Synonyms
EC Number |
Synonyms |
Comment |
Organism |
---|
3.7.1.2 |
FAH |
- |
Homo sapiens |
Temperature Stability [°C]
EC Number |
Temperature Stability Minimum [°C] |
Temperature Stability Maximum [°C] |
Comment |
Organism |
---|
3.7.1.2 |
48 |
- |
dimer dissociates into the monomer, consistent with the irreversible aggregation observed |
Homo sapiens |
Turnover Number [1/s]
EC Number |
Turnover Number Minimum [1/s] |
Turnover Number Maximum [1/s] |
Substrate |
Comment |
Organism |
Structure |
---|
3.7.1.2 |
0.1 |
- |
4-Fumarylacetoacetate |
pH 7.4, 22°C |
Homo sapiens |
|
pH Optimum
EC Number |
pH Optimum Minimum |
pH Optimum Maximum |
Comment |
Organism |
---|
3.7.1.2 |
7.4 |
- |
assay at |
Homo sapiens |
General Information
EC Number |
General Information |
Comment |
Organism |
---|
3.7.1.2 |
malfunction |
more than 100 mutations in the gene encoding fumarylacetoacetate hydrolase cause hereditary tyrosinemia type I, a metabolic disorder characterized by elevated blood levels of tyrosine |
Homo sapiens |