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Literature summary for 5.1.3.2 extracted from

  • Timson, D.J.
    Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase (2005), FEBS J., 272, 6170-6177.
    View publication on PubMed
Search for more literature for 5.1.3.2

Cloned(Commentary)

Cloned (Comment) Organism
expression in Escherichia coli Homo sapiens

Protein Variants

Protein Variants Comment Organism
D103G the ratio of turnover number to Km-value is 14.4fold lower than the wild-type ratio Homo sapiens
G319E very littel change in steady-state kinetic parameters compared with the wild-type protein Homo sapiens
G90E the ratio of turnover number to Km-value is 1040fold lower than the wild-type ratio. Mutant enzyme is more susceptible to proteolysis than the wild-type protein, presence of substrate at saturating level (1 mM) partially protect the enzyme from proteolysis Homo sapiens
K257R the ratio of turnover number to Km-value is 6.7fold lower than the wild-type ratio Homo sapiens
L183P the ratio of turnover number to Km-value is 4.7fold lower than the wild-type ratio. Mutant enzyme is highly susceptible to proteolysis during expression and purification Homo sapiens
L313M the ratio of turnover number to Km-value is 3.0fold lower than the wild-type ratio Homo sapiens
N34S very little change in steady-state kinetic parameters compared with the wild-type protein. Mutant enzyme is more susceptible to proteolysis than the wild-type protein, presence of substrate at saturating level (1 mM) partially protect the enzyme from proteolysis Homo sapiens
R335H the ratio of turnover number to KM-value is 3.5fold lower than the wild-type ratio Homo sapiens
V94M the ratio of turnover number to Km-value is 75fold lower than the wild-type ratio Homo sapiens

KM Value [mM]

KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
0.035
-
 UDP-galactose 37°C, pH 8.8, mutant enzyme L313M Homo sapiens
0.066
-
 UDP-galactose 37°C, pH 8.8, mutant enzyme K257R Homo sapiens
0.069
-
 UDP-galactose 37°C, pH 8.8, wild-type enzyme Homo sapiens
0.078
-
 UDP-galactose 37°C, pH 8.8, mutant enzyme G319E Homo sapiens
0.082
-
 UDP-galactose 37°C, pH 8.8, mutant enzyme N34S Homo sapiens
0.093
-
 UDP-galactose 37°C, pH 8.8, mutant enzyme G90E Homo sapiens
0.097
-
 UDP-galactose 37°C, pH 8.8, mutant enzyme L183P Homo sapiens
0.099
-
 UDP-galactose 37°C, pH 8.8, mutant enzyme R335H Homo sapiens
0.14
-
 UDP-galactose 37°C, pH 8.8, mutant enzyme D103G Homo sapiens
0.16
-
 UDP-galactose 37°C, pH 8.8, mutant enzyme V94M Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
UDP-galactose Homo sapiens point mutations in UDP-galactose 4-epimerase are associated with the genetic disease, type III galactosemia UDP-glucose
-
 r

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Purification (Commentary)

Purification (Comment) Organism
recombinant enzyme Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
UDP-galactose
-
 Homo sapiens UDP-glucose
-
 r
UDP-galactose point mutations in UDP-galactose 4-epimerase are associated with the genetic disease, type III galactosemia Homo sapiens UDP-glucose
-
 r

Subunits

Subunits Comment Organism
dimer wild-type protein and all the mutants (N34S, G90E, V94M, D103G, L183P, K257R, L313M, G319E and R335H) are able to form dimers. In all cases, especially with the mutant proteins, some higher molecular mass species are also observed Homo sapiens

Synonyms

Synonyms Comment Organism
GalE
-
 Homo sapiens

Turnover Number [1/s]

Turnover Number Minimum [1/s] Turnover Number Maximum [1/s] Substrate Comment Organism Structure
0.046
-
 UDP-galactose 37°C, pH 8.8, mutant enzyme G90E Homo sapiens
1.1
-
 UDP-galactose 37°C, pH 8.8, mutant enzyme V94M Homo sapiens
5
-
 UDP-galactose 37°C, pH 8.8, mutant enzyme D103G Homo sapiens
5.1
-
 UDP-galactose 37°C, pH 8.8, mutant enzyme K257R Homo sapiens
5.8
-
 UDP-galactose 37°C, pH 8.8, mutant enzyme L313M Homo sapiens
11
-
 UDP-galactose 37°C, pH 8.8, mutant enzyme L183P Homo sapiens
15
-
 UDP-galactose 37°C, pH 8.8, mutant enzyme R335H Homo sapiens
30
-
 UDP-galactose 37°C, pH 8.8, mutant enzyme G319E Homo sapiens
32
-
 UDP-galactose 37°C, pH 8.8, mutant enzyme N34S Homo sapiens
36
-
 UDP-galactose 37°C, pH 8.8, wild-type enzyme Homo sapiens