Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Combined Automated Annotation using Multiple IEA Methods
Identification of the human methylmalonyl-CoA racemase gene based on the analysis of prokaryotic gene arrangements. Implications for decoding the human genome.
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Identified the human DL-methylmalonyl-CoA racemase (MCEE) gene and confirmed biochemically that the human protein and its prokaryotic homolog both encode DL-methylmalonyl-CoA racemases (epimerases) acting in propionyl-CoA metabolism.
"Subsequent biochemical studies confirmed this inference by showing that the prokaryotic gene PH0272 and its human homologue both encode DL-methylmalonyl-CoA racemases."
A proteome-scale map of the human interactome network.
Widespread macromolecular interaction perturbations in human genetic disorders.
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
A reference map of the human binary protein interactome.
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.
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MCEE is detected in the high-confidence human mitochondrial proteome, supporting its mitochondrial localisation.
"Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context."
A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.
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A homozygous nonsense mutation in MCEE causes methylmalonyl-CoA epimerase deficiency (MCEED), a mild methylmalonic aciduria, confirming a physiological role for MCEE in propionyl-CoA/methylmalonyl-CoA catabolism.
D-methylmalonyl-CoA <=> L-methylmalonyl-CoA
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MCEE mediates the reversible interconversion of D- and L-methylmalonyl-CoA in the mitochondrial matrix.
"This reaction takes place in the 'mitochondrial matrix' and is mediated by the 'methylmalonyl-CoA epimerase activity' of 'methylmalonyl-CoA epimerase'."
Propionyl-CoA catabolism
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The three-reaction propionyl-CoA catabolic pathway (including the MCEE epimerase step) converts propionyl-CoA to succinyl-CoA in the mitochondrial matrix.
"The three reactions of this pathway convert propionyl-CoA to succinyl-CoA, an intermediate of the citric acid cycle."