• Gene id: 2184

Gene Summary

• Gene Symbol: FAH   Gene   UCSC   Ensembl
• Gene name: fumarylacetoacetate hydrolase
• Alternate names: fumarylacetoacetase, FAA, beta-diketonase, epididymis secretory sperm binding protein, fumarylacetoacetate hydrolase (fumarylacetoacetase),
• Gene location: 15q25.1 (80152788: 80186948)     Exons: 15     NC_000015.10
• Gene summary(Entrez): 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]
• OMIM: 613871

Protein Summary

• Protein general information: P16930  
  • Name: Fumarylacetoacetase (FAA) (EC 3.7.1.2) (Beta diketonase) (Fumarylacetoacetate hydrolase)
  • Length: 419  
  • Mass: 46374
  • Tissue specificity: Mainly expressed in liver and kidney. Lower levels are also detected in many other tissues.
• Sequence:

  MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLSIIKHLFTGPVLSKHQDVFNQPTLNSFMGLGQ
  AAWKEARVFLQNLLSVSQARLRDDTELRKCAFISQASATMHLPATIGDYTDFYSSRQHATNVGIMFRDKENALMP
  NWLHLPVGYHGRASSVVVSGTPIRRPMGQMKPDDSKPPVYGACKLLDMELEMAFFVGPGNRLGEPIPISKAHEHI
  FGMVLMNDWSARDIQKWEYVPLGPFLGKSFGTTVSPWVVPMDALMPFAVPNPKQDPRPLPYLCHDEPYTFDINLS
  VNLKGEGMSQAATICKSNFKYMYWTMLQQLTHHSVNGCNLRPGDLLASGTISGPEPENFGSMLELSWKGTKPIDL
  GNGQTRKFLLDGDEVIITGYCQGDGYRIGFGQCAGKVLPALLPS

• Structural information:
  • Interpro: IPR005959  IPR011234  IPR036663  IPR015377  IPR036462  
  • STRING: ENSP00000385080
• Other Databases: GeneCards:  FAH  Malacards:  FAH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1902000	homogentisate catabolic process	IBA	biological process
GO:0006559	L-phenylalanine catabolic process	IBA	biological process
GO:0006572	tyrosine catabolic process	IBA	biological process
GO:0004334	fumarylacetoacetase activity	IBA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0004334	fumarylacetoacetase activity	IEA	molecular function
GO:0009072	aromatic amino acid family metabolic process	IEA	biological process
GO:0006559	L-phenylalanine catabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006572	tyrosine catabolic process	IEA	biological process
GO:0004334	fumarylacetoacetase activity	TAS	molecular function
GO:0006572	tyrosine catabolic process	TAS	biological process
GO:0004334	fumarylacetoacetase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006559	L-phenylalanine catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004334	fumarylacetoacetase activity	IEA	molecular function
GO:0006527	arginine catabolic process	IEA	biological process
GO:0006559	L-phenylalanine catabolic process	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00350	Tyrosine metabolism

Diseases

Associated diseases	References
Tyrosinemia	KEGG:H00165
Tyrosinemia	KEGG:H00165
tyrosinemia type I	PMID:27397503
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R