Gene Ontology annotation through association of InterPro records with GO terms
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
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
An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells.
Structure of the ornithine transcarbamylase (OTC) gene and DNA diagnosis of OTC deficiency.
Targeting of nuclear-encoded proteins to the mitochondrial matrix: implications for human genetic defects.
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.
Arginine in the leader peptide is required for both import and proteolytic cleavage of a mitochondrial precursor.
Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase.
Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes.
carbamoyl phosphate + ornithine => citrulline + orthophosphate
PITRM1 proteolyzes mitochondrial targeting peptides (presequences)
OTC precursor is targeted to the mitochondrial matrix and processed
Leader sequence variants of OTC aren't targeted to the mitochondria
OTC variants don't synthesize L-citrulline