Version 5.4
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
IDBP-25692
fumarylacetoacetate hydrolase (fumarylacetoacetase)
IDBP-295611
fumarylacetoacetate hydrolase (fumarylacetoacetase)
IDBP-599727
fumarylacetoacetate hydrolase (fumarylacetoacetase)
IDBP-592595
fumarylacetoacetate hydrolase (fumarylacetoacetase)
IDBP-747288
IDBP-746247
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
ENSMUSG00000030630
View Gene Order
ENSBTAG00000012338
Not yet available
Pathways
NETPATH
REACTOME
REACT_1786
Phenylalanine and tyrosine catabolism pathway
REACT_13
Metabolism of amino acids and derivatives pathway
REACT_111217
Metabolism pathway
KEGG
hsa00350
Tyrosine metabolism pathway
INOH
INOH website
Tyrosine metabolism pathway
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

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca