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Literature summary extracted from

  • Elsevier, J.P.; Wells, L.; Quimby, B.B.; Fridovich-Keil, J.L.
    Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase (1996), Proc. Natl. Acad. Sci. USA, 93, 7166-7171.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.7.7.12 expression of His- and 12CA5 epitope-tagged subunits of mutants R333W and Q188R in yeast, analysis of homo- and heterodimer formation of wild-type and mutant subunits Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.7.7.12 Q188R 20-30% activity of wild-type activity as heterodimer with wild-type subunit, no activity as homodimer Homo sapiens
2.7.7.12 Q188R native mutant, no enzyme activity in vivo, galactosemia phenotype Homo sapiens
2.7.7.12 R333W native mutant, catalytically inactive, galactosemic phenotype Homo sapiens
2.7.7.12 R333W 20-30% activity of wild-type activity as heterodimer with wild-type subunit, no activity as homodimer Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
2.7.7.12 Homo sapiens
-
 native galactosemic R333W mutant
-
2.7.7.12 Homo sapiens
-
 native galactosemic Q188R mutant
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.7.7.12 UDP-glucose + alpha-D-galactose 1-phosphate
-
 Homo sapiens alpha-D-glucose 1-phosphate + UDP-galactose
-
 r

Subunits

EC Number Subunits Comment Organism
2.7.7.12 More catalytically inactive subunits of mutants R333W and Q188R form normal homo- and heterodimers Homo sapiens

Synonyms

EC Number Synonyms Comment Organism
2.7.7.12 GALT
-
 Homo sapiens