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 curation of immunofluorescence data
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.
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OAT is a nuclear-encoded mitochondrial matrix enzyme catalyzing the reversible interconversion of ornithine + alpha-ketoglutarate and glutamate semialdehyde + glutamate; site-directed mutagenesis of gyrate-atrophy alleles inactivates the enzyme.
"ornithine delta-aminotransferase is a nuclear-encoded mitochondrial matrix enzyme which catalyzes the reversible interconversion of ornithine and alpha-ketoglutarate to glutamate semialdehyde and glutamate"
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
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OAT is a homohexameric enzyme; disease missense mutants markedly reduce enzymatic activity, are unstable/degraded, or fail to assemble the active hexamer.
"homoexameric enzyme ornithine-delta-aminotransferase"
Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy.
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A generalized deficiency of the mitochondrial enzyme OAT is the inborn error in gyrate atrophy, a degenerative disease of the choroid and retina that leads to blindness.
"A generalized deficiency of the mitochondrial enzyme, ornithine aminotransferase (OAT) is the inborn error in gyrate atrophy"
Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains.
Molecular cloning of human ornithine aminotransferase mRNA.
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OAT (EC 2.6.1.13) is a nonabundant mitochondrial matrix enzyme, severely deficient in the hereditary chorioretinal degenerative disease gyrate atrophy.
"a nonabundant mitochondrial matrix enzyme that is severely deficient in a hereditary chorioretinal degenerative disease (gyrate atrophy)"
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.
ornithine + alpha-ketoglutarate <=> glutamate + L-glutamate gamma-semialdehyde [OAT]
glutamate + L-glutamate gamma-semialdehyde <=> ornithine + alpha-ketoglutarate [OAT]
UniProtKB entry P04181 (OAT_HUMAN)