Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniPathway vocabulary mapping
Automatic Gene Ontology annotation based on Rhea mapping
Combined Automated Annotation using Multiple IEA Methods
Isolation and characterisation of a cDNA encoding the precursor for a novel member of the acyl-CoA dehydrogenase gene family.
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Cloned the ACAD8 cDNA (415-aa precursor, chromosome 11q25) as a novel member of the human acyl-CoA dehydrogenase family; substrate specificity was not yet determined.
"A gene encoding the precursor for a novel member of the human acyl-CoA"
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.
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Showed that ACAD-8 is an isobutyryl-CoA dehydrogenase, is imported into mitochondria and forms tetramers, and functions in valine catabolism (distinct from the isoleucine-pathway SBCAD).
"indicate that ACAD-8 is a mitochondrial enzyme that functions in valine catabolism."
Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.
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Recombinant ACAD8 characterized enzymatically as an isobutyryl-CoA dehydrogenase (preferred substrate isobutyryl-CoA; weaker with 2-methylbutyryl-CoA and propionyl-CoA); first patient (Arg302Gln) defines IBDD as a valine-oxidation defect.
"Thus, this enzyme is an isobutyryl-CoA dehydrogenase."
Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.
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Reported additional IBDD patients/variants from newborn screening for elevated C4-carnitine; functional studies showed variant IBD proteins disturb folding and reduce active tetramer levels.
"The isobutyryl-CoA dehydrogenase (IBD) enzyme is involved in the degradation of valine."
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
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The BioPlex AP-MS study is the GOA source for a generic interaction annotation; the specific VSTM2A partner is documented in the fetched UniProt/IntAct cross-reference, not in the quoted study-wide abstract.
"Through affinity-purification mass spectrometry, we have created two proteome-scale, cell-line-specific interaction networks."
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.
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The study defines MitoCoP and is the seeded source of the mitochondrial localization annotation; the quoted main-text statement is study-wide rather than the ACAD8-specific supplementary row.
"leading to the definition of the high-confidence mitochondrial proteome MitoCoP"
isobutyryl-CoA + FAD => methacrylyl-CoA + FADH2
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Reactome reaction for ACAD8-catalyzed isobutyryl-CoA dehydrogenation in the mitochondrial matrix.
"Mitochondrial isobutyryl-CoA dehydrogenase (ACAD8) catalyzes the reaction of isobutyryl-CoA and FAD to form methacrylyl-CoA and FADH2"
CLPXP binds mitochondrial matrix proteins
LONP1 degrades mitochondrial matrix proteins
LONP1 binds mitochondrial matrix proteins
CLPXP degrades mitochondrial matrix proteins