Gene Ontology annotation through association of InterPro records with GO terms
Use of the ND evidence code for Gene Ontology (GO) terms
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniPathway vocabulary mapping
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Combined Automated Annotation using Multiple IEA Methods
Isolation and characterization of the human tyrosine aminotransferase gene.
-
Characterizes the human TAT gene (12 exons, 454-aa protein, 50,399 Da, 92% protein identity to rat); notes that the functional glucocorticoid response elements present upstream of the rat gene are mutated or Alu-replaced in the human gene.
"The human TAT gene is predicted to code for a 454 amino acid protein of molecular weight 50,399 dalton."
Cloning and expression of human tyrosine aminotransferase cDNA.
-
Human TAT cDNA expressed in HeLa cells produced a ~50 kDa protein that specifically converted L-tyrosine to 4-hydroxyphenylpyruvate, establishing the core molecular function and involvement in tyrosine catabolism.
"The expressed protein catalyzed specifically the conversion of L-[14C]tyrosine into p-[14C]hydroxyphenylpyruvate."
The narrow substrate specificity of human tyrosine aminotransferase -- the enzyme deficient in tyrosinemia type II.
-
Establishes that human TAT has narrow substrate specificity for tyrosine with only weak activity toward phenylalanine, and that Ile-294 is important for catalytic activity; supports treating phenylalanine/aromatic-amino-acid processes as non-core.
"The narrow substrate specificity of human tyrosine aminotransferase -- the enzyme deficient in tyrosinemia type II."
Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations.
Widespread macromolecular interaction perturbations in human genetic disorders.
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
A reference map of the human binary protein interactome.
Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains.