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

GO_REF:0000033

Annotation inferences using phylogenetic trees

GO_REF:0000041

Gene Ontology annotation based on UniPathway vocabulary mapping

GO_REF:0000117

Electronic Gene Ontology annotations created by ARBA machine learning models

GO_REF:0000120

Combined Automated Annotation using Multiple IEA Methods

PMID:16640564

Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism.

Purified human AUH preferentially catalyzes the methylglutaconyl-CoA reaction in leucine degradation; the A240V variant retains much less activity.

PMID:29056341

The Human Knockout Gene CLYBL Connects Itaconate to Vitamin B(12).

The C5-dicarboxylate model assigns AUH the reversible itaconyl-CoA/citramalyl-CoA hydration using earlier enzymology. Direct work centers on CLYBL and MUT; quantitative macrophage pathway flux remains unresolved.

"reaction catalyzed by methylglutaconyl-CoA hydratase (AUH)"

PMID:34800366

Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.

The MitoCoP study establishes a curated human mitochondrial proteome using quantitative proteomics. The existing AUH HTP annotation is consistent with other localization evidence; its specific supplementary row was not independently inspected.

"mitochondrial high-confidence proteome of >1,100 proteins (MitoCoP)."

PMID:7892223

AUH, a gene encoding an AU-specific RNA binding protein with intrinsic enoyl-CoA hydratase activity.

Recombinant AUH binds AU-rich transcripts and has weak enoyl-CoA hydratase activity. Simultaneous matrix binding and catalysis led the authors to suggest separable functional regions; it did not establish a separate folded RNA-binding domain.

"recombinant protein showed a low degree"

Reactome:R-HSA-70785

beta-methylglutaconyl-CoA + H2O <=> beta-hydroxy-beta-methylglutaryl-CoA

The curated reaction places AUH in the leucine-catabolic conversion between methylglutaconyl-CoA and hydroxymethylglutaryl-CoA.

"beta-methylglutaconyl-CoA to yield beta-hydroxy-beta-methylglutaryl-CoA"

Reactome:R-HSA-9914271

AUH mutants don't synthesize 3-hydroxy-methylglutaryl-CoA

The curated mutant-reaction record summarizes impaired AUH activity associated with reported patient variants. Clinical database classifications are not independently reevaluated here.

"A240V: compromised enzymatic activity"

PMID:11738050

Crystal structure of human AUH protein, a single-stranded RNA binding homolog of enoyl-CoA hydratase.

Human AUH adopts the crotonase-superfamily fold and forms a hexamer from two trimers. Mutational evidence implicates the exposed helix-H1 lysines in RNA binding; it does not establish a separate folded RNA-binding domain.

PMID:12434311

3-Methylglutaconic aciduria type I is caused by mutations in AUH.

Human AUH expressed as an MBP fusion has much greater methylglutaconyl-CoA activity than butenoyl-CoA activity. The reverse-direction assay establishes reversible hydratase chemistry, and affected-patient variants connect AUH to methylglutaconic aciduria type I.

PMID:12655555

Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.

Patient genetic analyses identify AUH with methylglutaconyl-CoA hydratase and document variable clinical presentations. The reported variants support the metabolic disease association; individual variant effects are not independently reclassified here.

"Molecular analyses in five patients from four independent families revealed homozygosity or compound heterozygosity for mutations in the AUH gene"

PMID:24598254

A bifunctional protein regulates mitochondrial protein synthesis.

Human-cell experiments place AUH predominantly in the mitochondrial matrix with an inner-membrane-associated fraction. RNA and ribosome copurification and expression perturbations connect AUH to mitochondrial protein synthesis; these association assays do not establish every RNA contact as direct.