Fah fumarylacetoacetate hydrolase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fahprovided by MGI
Official Full Name: fumarylacetoacetate hydrolaseprovided by MGI
Primary source: MGI:MGI:95482
See related: Ensembl:ENSMUSG00000030630 AllianceGenome:MGI:95482
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: swst
Summary: Enables fumarylacetoacetase activity. Acts upstream of or within arginine catabolic process. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and skeleton. Used to study tyrosinemia type I. Human ortholog(s) of this gene implicated in tyrosinemia type I. Orthologous to human FAH (fumarylacetoacetate hydrolase). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in liver adult (RPKM 290.9), kidney adult (RPKM 236.1) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 D3; 7 48.36 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (84234367..84255150, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (84585159..84605942, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I.
Title: Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I.
A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I.
Title: A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I.
FAH mutation reduces FAH activity in liver and kidney and causes chronic tyrosinemia and sleep-wake disruption.
Title: Tissue-specific FAH deficiency alters sleep-wake patterns and results in chronic tyrosinemia in mice.
Naked plasmid DNA transfection offers a promising alternative treatment for hereditary tyrosinemia type 1 caused by mutation of the fah gene.
Title: High volume naked DNA tail-vein injection restores liver function in Fah-knock out mice.
Kidneys of adult Fah(-/-) mice, withdrawn from NTBC for 15 days, reveal limited characteristics of apoptosis, and have acquired resistance to a caspase-9- and caspase-3-independent form of cell death
Title: Renal proximal tubular cells acquire resistance to cell death stimuli in mice with hereditary tyrosinemia type 1.
Gene expressions in tyrosinemia type I model mice with liver failure using microarrays. Numerous genes, including amino acid metabolism and apoptosis related genes, were up- or down-regulated at the onset of liver failure.
Title: Gene expression profiles of homogentisate-treated Fah-/- Hpd-/-mice using DNA microarrays.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (3) 1 citation
Endonuclease-mediated (8) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables fumarylacetoacetase activity	IBA Inferred from Biological aspect of Ancestor more info
enables fumarylacetoacetase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in L-phenylalanine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in L-phenylalanine catabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within arginine catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in homogentisate catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in tyrosine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in tyrosine catabolic process	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: fumarylacetoacetase

Names: FAA; beta-diketonase

NP_034306.2

EC 3.7.1.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_010176.4 → NP_034306.2 fumarylacetoacetase

See identical proteins and their annotated locations for NP_034306.2

Status: VALIDATED

Source sequence(s)

AI848212, AK158808, BY265969, BY293890

Consensus CDS

CCDS21418.1

UniProtKB/Swiss-Prot

P35505, Q3TY87, Q9QW65

Related

ENSMUSP00000032865.9, ENSMUST00000032865.17

Conserved Domains (3) summary

TIGR01266
Location:2 → 416

fum_ac_acetase; fumarylacetoacetase

pfam01557
Location:124 → 390

FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family

pfam09298
Location:15 → 118

FAA_hydrolase_N; Fumarylacetoacetase N-terminal