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
Gene Ontology annotation based on curation of immunofluorescence data
Combined Automated Annotation using Multiple IEA Methods
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.
Ectopic protein lysine methacrylation contributes to defects caused by loss of HIBCH or ECHS1.
-
Loss of HIBCH (or the upstream valine-pathway enzyme ECHS1) causes abnormal mitochondrial morphology and respiratory defects and elevates protein lysine methacrylation, consistent with build-up of reactive valine-pathway thioesters.
"results in abnormal mitochondrial morphology and respiratory defects."
Primary structure and tissue-specific expression of human beta-hydroxyisobutyryl-coenzyme A hydrolase.
-
HIBYL-CoA hydrolase specifically hydrolyzes 3-hydroxyisobutyryl-CoA (a valine catabolite) and also hydrolyzes beta-hydroxypropionyl-CoA; the human enzyme is homologous to the enoyl-CoA hydratase/isomerase family and is expressed predominantly in liver, heart and kidney.
"beta-Hydroxyisobutyryl-CoA (HIBYL-CoA) hydrolase is responsible for the specific"
beta-hydroxyisobutyryl-CoA + H2O => beta-hydroxyisobutyrate + CoA
Branched-chain amino acid catabolism
HIBCH mutants don't synthesize beta-hydroxyisobutyrate