Homo sapiens Gene: FAH
Summary
InnateDB Gene IDBG-25690.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FAH
Gene Name fumarylacetoacetate hydrolase (fumarylacetoacetase)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000103876
Encoded Proteins
fumarylacetoacetate hydrolase (fumarylacetoacetase)
fumarylacetoacetate hydrolase (fumarylacetoacetase)
fumarylacetoacetate hydrolase (fumarylacetoacetase)
fumarylacetoacetate hydrolase (fumarylacetoacetase)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:80152490-80186946
Strand Forward strand
Band q25.1
Transcripts
ENST00000261755 ENSP00000261755
ENST00000407106 ENSP00000385080
ENST00000558022 ENSP00000453152
ENST00000537726
ENST00000558767
ENST00000561369
ENST00000561421 ENSP00000453347
ENST00000539156 ENSP00000454271
ENST00000558627
ENST00000558514
ENST00000559542
ENST00000559217
ENST00000561353 ENSP00000454952
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 2 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004334 fumarylacetoacetase activity
GO:0046872 metal ion binding
Biological Process
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
Cellular Component
GO:0005829 cytosol
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Phenylalanine and tyrosine catabolism pathway
Metabolism of amino acids and derivatives pathway
Metabolism pathway
KEGG
Tyrosine metabolism pathway
INOH
Tyrosine metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.73875
RefSeq NM_000137
HUGO
OMIM
CCDS CCDS10314
HPRD 02040
IMGT
EMBL
GenPept
RNA Seq Atlas