Gene Ontology annotation through association of InterPro records with 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
Large-scale proteomics and phosphoproteomics of urinary exosomes.
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FAH was among 1132 proteins identified in a large-scale proteomic profile of human urinary exosomes; a bulk proteomics detection rather than a functional localization.
"the analysis identified 1132 proteins unambiguously"
Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15.
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Human FAH cDNA expressed in mammalian cells produces an enzymatically active protein that hydrolyzes the natural substrate fumarylacetoacetate; the in vivo dimer is a homodimer.
"having enzymatic activity as shown by the hydrolysis of the natural substrate fumarylacetoacetate"
In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
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FAH was cataloged among ~900 proteins in a shotgun proteomic survey of prostatic-secretion (urinary) exosomes.
"In pooled EPS-urine exosome samples, ~900 proteins were detected."
A proteome-scale map of the human interactome network.
A reference map of the human binary protein interactome.
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HuRI binary reference interactome (Y2H) reporting FAH interactions with functionally unrelated partners (e.g. ADAMTSL4, CHRDL2, KRTAPs, PLEKHF2, SERTAD1).
"A reference map of the human binary protein interactome."
Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathway.
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Fah encodes the last enzyme of the tyrosine catabolic pathway; its loss causes accumulation of fumarylacetoacetate, maleylacetoacetate, and succinylacetone that trigger hepatocyte apoptosis, the mouse model of tyrosinemia type 1.
"HT1 is due to mutations in the fumarylacetoacetate hydrolase gene Fah, encoding the last enzyme in the tyrosine catabolic pathway."
FAH cleaves 4FAA
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Reactome reaction: FAH (a cytosolic homodimer using Ca2+ and Mg2+ cofactors) catalyzes the final step of tyrosine degradation, hydrolyzing 4-fumarylacetoacetate to fumarate and acetoacetate.
"This is the final step of tyrosine degradation."