Expression of FAH in cancer - Summary - The Human Protein Atlas

CANCER ATLAS

Gene description

Fumarylacetoacetate hydrolase (fumarylacetoacetase)

Protein class

Disease related genes, Enzymes, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Protein evidence

Evidence at protein level

Colorectal cancer

Breast cancer

Prostate cancer

Lung cancer

Liver cancer

STAINING SUMMARY

HPA041370	HPA044093

GENE INFORMATION
Gene name	FAH
Synonyms
Description	Fumarylacetoacetate hydrolase (fumarylacetoacetase) (HGNC Symbol)
Entrez gene summary	This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq, Jul 2008]
Chromosome	15
Cytoband	q25.1
Chromosome location (bp)	80152490 - 80186946
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000103876 (version 83.38)
Entrez gene	2184
UniProt	P16930 (UniProt - Evidence at protein level)
neXtProt	NX_P16930
Antibodypedia	FAH antibodies

PROTEIN BROWSER

FAH-001	FAH-004	FAH-005	FAH-006	FAH-007

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
FAH-001 ENSP00000385080 ENST00000407106	P16930 [Direct mapping] Fumarylacetoacetase Show all	Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0003824 [catalytic activity] GO:0004334 [fumarylacetoacetase activity] GO:0005515 [protein binding] GO:0005829 [cytosol] GO:0006527 [arginine catabolic process] GO:0006559 [L-phenylalanine catabolic process] GO:0006572 [tyrosine catabolic process] GO:0008152 [metabolic process] GO:0009072 [aromatic amino acid family metabolic process] GO:0034641 [cellular nitrogen compound metabolic process] GO:0044281 [small molecule metabolic process] GO:0046872 [metal ion binding] GO:0070062 [extracellular exosome] Show all	419 aa 46.4 kDa	No	0
FAH-004 ENSP00000454271 ENST00000539156	P16930 [Direct mapping] Fumarylacetoacetase Show all	Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0003824 [catalytic activity] GO:0004334 [fumarylacetoacetase activity] GO:0005515 [protein binding] GO:0005829 [cytosol] GO:0006559 [L-phenylalanine catabolic process] GO:0006572 [tyrosine catabolic process] GO:0008152 [metabolic process] GO:0009072 [aromatic amino acid family metabolic process] GO:0034641 [cellular nitrogen compound metabolic process] GO:0044281 [small molecule metabolic process] GO:0046872 [metal ion binding] GO:0070062 [extracellular exosome] Show all	349 aa 38.6 kDa	No	0
FAH-005 ENSP00000261755 ENST00000261755	P16930 [Direct mapping] Fumarylacetoacetase Show all	Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0003824 [catalytic activity] GO:0004334 [fumarylacetoacetase activity] GO:0005515 [protein binding] GO:0005829 [cytosol] GO:0006559 [L-phenylalanine catabolic process] GO:0006572 [tyrosine catabolic process] GO:0008152 [metabolic process] GO:0009072 [aromatic amino acid family metabolic process] GO:0034641 [cellular nitrogen compound metabolic process] GO:0044281 [small molecule metabolic process] GO:0046872 [metal ion binding] GO:0070062 [extracellular exosome] Show all	419 aa 46.4 kDa	No	0
FAH-006 ENSP00000453347 ENST00000561421	P16930 [Direct mapping] Fumarylacetoacetase Show all	Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003824 [catalytic activity] GO:0004334 [fumarylacetoacetase activity] GO:0005515 [protein binding] GO:0005829 [cytosol] GO:0006559 [L-phenylalanine catabolic process] GO:0006572 [tyrosine catabolic process] GO:0008152 [metabolic process] GO:0009072 [aromatic amino acid family metabolic process] GO:0034641 [cellular nitrogen compound metabolic process] GO:0044281 [small molecule metabolic process] GO:0046872 [metal ion binding] GO:0070062 [extracellular exosome] Show all	419 aa 46.4 kDa	No	0
FAH-007 ENSP00000453152 ENST00000558022	H0YLC7 [Direct mapping] Fumarylacetoacetase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0003824 [catalytic activity] GO:0004334 [fumarylacetoacetase activity] GO:0008152 [metabolic process] GO:0009072 [aromatic amino acid family metabolic process] Show all	161 aa 18 kDa	No	0