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Literature summary extracted from

  • Riehman, K.; Crews, C.; Fridovich-Keil, J.L.
    Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase (2001), J. Biol. Chem., 276, 10634-10640.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.7.7.12 expression of wild-type and mutants in Saccharomyces cerevisiae Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.7.7.12 E291K site-directed mutagenesis for construction of the naturally occuring mutation, 62.8% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose Homo sapiens
2.7.7.12 F171S site-directed mutagenesis for construction of the naturally occuring mutation, below 0.2% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose Homo sapiens
2.7.7.12 K285N site-directed mutagenesis for construction of the naturally occuring mutation, below 0.2% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose Homo sapiens
2.7.7.12 L139P site-directed mutagenesis for construction of the naturally occuring mutation, 1.9% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose Homo sapiens
2.7.7.12 N314D site-directed mutagenesis for construction of the naturally occuring mutation, unaltered activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose Homo sapiens
2.7.7.12 P183T site-directed mutagenesis for construction of the naturally occuring mutation, 45.2% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose Homo sapiens
2.7.7.12 Q188R site-directed mutagenesis for construction of the naturally occuring mutation, below 0.2% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose Homo sapiens
2.7.7.12 R201H site-directed mutagenesis for construction of the naturally occuring mutation, 62.8% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose Homo sapiens
2.7.7.12 R231H site-directed mutagenesis for construction of the naturally occuring mutation, below 0.2% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose Homo sapiens
2.7.7.12 R259W site-directed mutagenesis for construction of the naturally occuring mutation, below 0.2% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose Homo sapiens
2.7.7.12 R333W site-directed mutagenesis for construction of the naturally occuring mutation, below 0.2% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose Homo sapiens
2.7.7.12 R67C site-directed mutagenesis for construction of the naturally occuring mutation, 2.3% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose Homo sapiens
2.7.7.12 S135L site-directed mutagenesis for construction of the naturally occuring mutation, 2.7% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose Homo sapiens
2.7.7.12 T350A site-directed mutagenesis for construction of the naturally occuring mutation, 9.9% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose Homo sapiens
2.7.7.12 V151A site-directed mutagenesis for construction of the naturally occuring mutation, 4.6% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucosey Homo sapiens
2.7.7.12 Y323D site-directed mutagenesis for construction of the naturally occuring mutation, 9.6% of wild-type activity, accumulation of alpha-D-galactose 1-phosphate, UDP-galactose and UDP-glucose Homo sapiens

Inhibitors

EC Number Inhibitors Comment Organism Structure
2.7.7.12 D-galactose wild-type and mutants, inverse relationship between enzyme activity and galactose sensitivity Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
2.7.7.12 Homo sapiens
-
-
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.7.7.12 additional information inverse relationship between enzyme activity and galactose sensitivity Homo sapiens ?
-
 ?
2.7.7.12 UDP-glucose + alpha-D-galactose 1-phosphate
-
 Homo sapiens alpha-D-glucose 1-phosphate + UDP-galactose
-
 r

Synonyms

EC Number Synonyms Comment Organism
2.7.7.12 GALT
-
 Homo sapiens