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Literature summary for 4.2.1.2 extracted from

  • Bulku, A.; Weaver, T.M.; Berkmen, M.B.
    Biochemical characterization of two clinically-relevant human fumarase variants defective for oligomerization (2018), Open Biochem. J., 12, 1-15 .
    View publication on PubMedView publication on EuropePMC
Search for more literature for 4.2.1.2

Protein Variants

Protein Variants Comment Organism
A308T mutation associated with fumarate hydratase deficiency and hereditary leiomyomatosis and renal cell cancer. Enzyme shows severely diminished fumarase activity, and the variant is largely defective due to decreased turnover rate, while displaying Km values for L-malate similar to wild-type. The protein forms homodimers rather than homotetramers Homo sapiens
H318Y mutation associated with fumarate hydratase deficiency and hereditary leiomyomatosis and renal cell cancer. Enzyme shows severely diminished fumarase activity, and the variant is largely defective due to decreased turnover rate, while displaying Km values for L-malate similar to wild-type. The protein forms homodimers rather than homotetramers Homo sapiens

KM Value [mM]

KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
1.1
-
 L-malate mutant A308T, pH 7.4, 23°C Homo sapiens
1.9
-
 L-malate wild-type, pH 7.4, 23°C Homo sapiens
2
-
 L-malate mutant H318Y, pH 7.4, 23°C Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
-
 Homo sapiens 5739
-

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
135000
-
 gel filtration, mutants H318Y and A308T Homo sapiens
210000
-
 gel filtration, wild-type Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P07954
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
L-malate
-
 Homo sapiens fumarate + H2O
-
 ?

Subunits

Subunits Comment Organism
More mutants H318Y and A308T form irregularly shaped dimers instead of tetramers Homo sapiens
tetramer 4 * 53800, calculated from sequence and SDS-PAGE Homo sapiens

Turnover Number [1/s]

Turnover Number Minimum [1/s] Turnover Number Maximum [1/s] Substrate Comment Organism Structure
0.041
-
 L-malate mutant H318Y, pH 7.4, 23°C Homo sapiens
0.16
-
 L-malate mutant A308T, pH 7.4, 23°C Homo sapiens
150
-
 L-malate wild-type, pH 7.4, 23°C Homo sapiens

kcat/KM [mM/s]

kcat/KM Value [1/mMs-1] kcat/KM Value Maximum [1/mMs-1] Substrate Comment Organism Structure
0.021
-
 L-malate mutant H318Y, pH 7.4, 23°C Homo sapiens
0.15
-
 L-malate mutant A308T, pH 7.4, 23°C Homo sapiens
80
-
 L-malate wild-type, pH 7.4, 23°C Homo sapiens