Gene Ontology annotation through association of InterPro records with GO terms
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
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
Gene Ontology annotation based on curation of immunofluorescence data
Combined Automated Annotation using Multiple IEA Methods
CoA-dependent methylmalonate-semialdehyde dehydrogenase, a unique member of the aldehyde dehydrogenase superfamily. cDNA cloning, evolutionary relationships, and tissue distribution.
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Cloned rat and human MMSDH cDNA and characterized the N-terminal mitochondrial targeting peptide; established MMSDH as a CoA-dependent member of the ALDH superfamily.
"superfamily of aldehyde dehydrogenases and is closely related to betaine"
Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
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Proteome-wide mRNA-interactome capture in HeLa cells recovered ~860 candidate RNA-binding proteins, explicitly including many intermediary-metabolism enzymes; ALDH6A1 is one such enzyme with no established RNA-regulatory role.
"shedding light on RBPs in disease, RNA-binding enzymes of intermediary metabolism"
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
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A patient with biallelic ALDH6A1 mutations (p.Tyr172His/p.Arg535Cys) had directly measured, markedly reduced MMSDH enzyme activity in fibroblasts, confirming the enzyme's methylmalonate-semialdehyde dehydrogenase activity and its role in valine and thymine catabolism.
"Subsequent MMSDH enzyme assay demonstrated reduced activity"
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.
methylmalonate semialdehyde + NAD+ + CoA + H2O => propionyl-CoA + HCO3- + NADH + H+
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Reactome reaction placing ALDH6A1/MMSDH in the mitochondrial matrix, catalyzing the NAD+/CoA-dependent conversion of methylmalonate semialdehyde to propionyl-CoA.
"Mitochondrial methylmalonate semialdehyde dehydrogenase (ALDH6A1) catalyzes the reaction of methylmalonate semialdehyde, NAD+, and CoA to form propionyl-CoA"
Branched-chain amino acid catabolism
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Reactome pathway for branched-chain amino acid (leucine, isoleucine, valine) catabolism, of which the MMSDH-catalyzed step is part of the valine branch.
"The branched-chain amino acids, leucine, isoleucine, and valine, are all essential amino acids"