InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FAH

Summary

InnateDB Protein

IDBP-592595.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FAH

Protein Name

fumarylacetoacetate hydrolase (fumarylacetoacetase)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000453347

InnateDB Gene

IDBG-25690 (FAH)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Disease Associations

Tyrosinemia 1 (TYRSN1) [MIM:276700]: An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and hepatorenal manifestations. Typical features include hepatic necrosis, renal tubular injury, episodic weakness, self-mutilation, and seizures. Renal tubular dysfunction is associated with phosphate loss and hypophosphataemic rickets. Progressive liver disease can lead to the development of hepatocellular carcinoma. Dietary treatment with restriction of tyrosine and phenylalanine alleviates the rickets, but liver transplantation has so far been the only definite treatment. {ECO:0000269PubMed:11196105, ECO:0000269PubMed:11476670, ECO:0000269PubMed:1401056, ECO:0000269PubMed:20003495, ECO:0000269PubMed:7550234, ECO:0000269PubMed:7757089, ECO:0000269PubMed:7942842, ECO:0000269PubMed:7977370, ECO:0000269PubMed:8005583, ECO:0000269PubMed:8318997, ECO:0000269PubMed:8364576, ECO:0000269PubMed:8557261, ECO:0000269PubMed:9633815}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Mainly expressed in liver and kidney. Lower levels are also detected in many other tissues.

Comments

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: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

Protein Structure and Domains

PDB ID

InterPro

IPR002529 Fumarylacetoacetase, C-terminal
IPR005959 Fumarylacetoacetase
IPR011234 Fumarylacetoacetase, C-terminal-related
IPR015377 Fumarylacetoacetase, N-terminal

PFAM

PF01557
PF09298

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P16930

PhosphoSite