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Literature summary for 5.3.1.1 extracted from

  • Rodriguez-Almazan, C.; Arreola, R.; Rodriguez-Larrea, D.; Aguirre-Lopez, B.; de Gomez-Puyou, M.T.; Perez-Montfort, R.; Costas, M.; Gomez-Puyou, A.; Torres-Larios, A.
    Structural basis of human triosephosphate isomerase deficiency: mutation E104D is related to alterations of a conserved water network at the dimer interface (2008), J. Biol. Chem., 283, 23254-23263.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
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Homo sapiens

Crystallization (Commentary)

Crystallization (Comment) Organism
mutant E104D, at 1.85 A resolution. Mutant structure is similar to wild-type, mutant residue E104A is part of a conserved cluster of 10 residues, 5 from each subunit. This cluster forms a cavity that possesses an elaborate conserved network of buried water molecules that bridge the two subunits. In the E104D mutant, a disruption of contacts of the amino acid side chains in the conserved cluster leads to a perturbation of the water network in which the water-protein and water-water interactions that join the two monomers are significantly weakened and diminished Homo sapiens

Protein Variants

Protein Variants Comment Organism
E104D mutation involved in human triosephosphate isomerase defiecency autosomal disease. Mutant exhibits normal catalytic activity but shows impairments in the formation of active dimers and low thermostability. E104A is part of a conserved cluster of 10 residues, 5 from each subunit. This cluster forms a cavity that possesses an elaborate conserved network of buried water molecules that bridge the two subunits. In the E104D mutant, a disruption of contacts of the amino acid side chains in the conserved cluster leads to a perturbation of the water network in which the water-protein and water-water interactions that join the two monomers are significantly weakened and diminished Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P60174
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-

Purification (Commentary)

Purification (Comment) Organism
recombinant mutant E104D Homo sapiens