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Literature summary extracted from

  • Persson, M.; Letts, J.A.; Hosseini-Maaf, B.; Borisova, S.N.; Palcic, M.M.; Evans, S.V.; Olsson, M.L.
    Structural effects of naturally occurring human blood group B galactosyltransferase mutations adjacent to the DXD motif (2007), J. Biol. Chem., 282, 9564-9570.
    View publication on PubMed

Protein Variants

EC Number Protein Variants Comment Organism
2.4.1.37 M214R mutation is adjacent to the 211DVD213 motif. 1200fold decrease in kcat compared with wild type enzyme. The crystal structure of M214R shows that DVD motif coordination to Mn2+ is disrupted by Arg214 causing displacement of the metal by a water molecule. Individuals with the M214R mutation show the Bel variant expressing very low levels of B antigens Homo sapiens
2.4.1.37 M214T mutation is adjacent to the 211DVD213 motif. The crystal structure of the M214T mutant shows no change in DVD motif coordination to Mn2+. Instead a critical residue, Met266, which is responsible for determining donor specificity, has adopted alternate conformations. The conformation with the highest occupancy opens up the active site to accommodate the larger A-specific donor, UDP-GalNAc, accounting for the dual specificity. Individuals with M214T mutation give rise to AweakB phenotype Homo sapiens
2.4.1.37 M214V mutation is adjacent to the 211DVD213 motif. Individuals with M214T mutation give rise to AweakB phenotype Homo sapiens

Metals/Ions

EC Number Metals/Ions Comment Organism Structure
2.4.1.37 Mn2+ the enzyme has a characteristic 211DVD213 motif that coordinates to a Mn2+ ion shown to be critical in donor binding and catalysis Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
2.4.1.37 Homo sapiens P16442 recombinantly expressed in Escherichia coli
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.4.1.37 UDP-D-galactose + alpha-L-Fucp-(1,2)-beta-D-Galp-O(CH2)7CH3
-
 Homo sapiens UDP + alpha-L-Fuc-(1,2)-[alpha-D-Galp-(1,3)-]-beta-D-Galp-O(CH2)7CH3
-
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Turnover Number [1/s]

EC Number Turnover Number Minimum [1/s] Turnover Number Maximum [1/s] Substrate Comment Organism Structure
2.4.1.37 0.00016
-
 UDP-N-acetylgalactosamine mutant enzyme M214R Homo sapiens
2.4.1.37 0.0042
-
 UDP-galactose mutant enzyme M214R Homo sapiens
2.4.1.37 0.37
-
 UDP-N-acetylgalactosamine mutant enzyme M214V Homo sapiens
2.4.1.37 0.42
-
 UDP-N-acetylgalactosamine wild-type enzyme Homo sapiens
2.4.1.37 1.3
-
 UDP-galactose mutant enzyme M214V Homo sapiens
2.4.1.37 1.6
-
 UDP-N-acetylgalactosamine mutant enzyme M214T Homo sapiens
2.4.1.37 5.1
-
 UDP-galactose wild-type enzyme Homo sapiens
2.4.1.37 5.4
-
 UDP-galactose mutant enzyme M214T Homo sapiens