Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniPathway vocabulary mapping
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 and characterisation of human aldose 1-epimerase.
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Recombinant human GALM has aldose 1-epimerase (mutarotase) activity (EC 5.1.3.3) and interconverts the alpha- and beta-anomers of hexose sugars, with a preference for galactose over glucose; site-directed mutagenesis confirmed catalytic/substrate-binding residues.
"Enzyme assays show that the protein has aldose 1-epimerase activity and exhibits a preference for galactose over glucose. Site-directed mutagenesis confirmed the involvement of three residues involved in catalysis and substrate binding."
Large-scale proteomics and phosphoproteomics of urinary exosomes.
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Large-scale LC-MS/MS proteomics of human urinary exosomes; GALM is among the many proteins detected in this exosome fraction.
"we used LC-MS/MS to profile the proteome of human urinary exosomes. Overall, the analysis identified 1132 proteins unambiguously"
Biallelic GALM pathogenic variants cause a novel type of galactosemia.
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Biallelic loss-of-function GALM variants impair aldose 1-epimerase activity and the Leloir pathway, causing a novel (type IV) galactosemia (galactose mutarotase deficiency, GALAC4).
"Biallelic GALM pathogenic variants cause a novel type of galactosemia."
GALM converts beta-D-GAL to alpha-D-GAL
Defective GALM doesn't convert beta-D-GAL to alpha-D-GAL