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Literature summary for 2.4.1.133 extracted from

  • Bui, C.; Talhaoui, I.; Chabel, M.; Mulliert, G.; Coughtrie, M.W.; Ouzzine, M.; Fournel-Gigleux, S.
    Molecular characterization of beta1,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers-Danlos syndrome (EDS) (2010), FEBS Lett., 584, 3962-3968.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
expressed in Escherichia coli BL21(DE3) cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
A186D the mutant exhibits 9times reduced activity compared to the wild type enzyme Homo sapiens
L206P loss of activity upon L206P substitution due to altered protein folding is the primary cause for the glycosaminoglycan synthesis defect in patients with the progeroid form of Ehlers-Danlos syndrome carrying the compound Homo sapiens
R270C the substitution strongly reduces enzyme affinity towards xyloside acceptor to about 60% compared to the wild type enzyme, thus affecting glycosaminoglycan chains formation Homo sapiens

KM Value [mM]

KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
0.45
-
UDP-galactose wild type enzyme, in 100 mM sodium cacodylate buffer (pH 7.4) containing 10 mM MnCl2, at 37°C Homo sapiens
0.6
-
4-methylumbelliferyl O-beta-D-xylopyranoside wild type enzyme, in 100 mM sodium cacodylate buffer (pH 7.4) containing 10 mM MnCl2, at 37°C Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Purification (Commentary)

Purification (Comment) Organism
glutathione Sepharose column chromatography Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
UDP-galactose + 4-methylumbelliferyl O-beta-D-xylopyranoside
-
Homo sapiens UDP + 4-methylumbelliferyl 4-O-beta-D-galactopyranoyl-beta-D-xylopyranoside
-
?

Synonyms

Synonyms Comment Organism
beta1,4-galactosyltransferase 7
-
Homo sapiens
beta4GalT7
-
Homo sapiens

Turnover Number [1/s]

Turnover Number Minimum [1/s] Turnover Number Maximum [1/s] Substrate Comment Organism Structure
1.14
-
UDP-galactose wild type enzyme, in 100 mM sodium cacodylate buffer (pH 7.4) containing 10 mM MnCl2, at 37°C Homo sapiens