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    Fah fumarylacetoacetate hydrolase [ Mus musculus (house mouse) ]

    Gene ID: 14085, updated on 11-Apr-2024

    Summary

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    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, Apr 2022]
    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

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    See Fah in Genome Data Viewer
    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_000073.7Genomic Context describing neighboring genes Neighboring gene cathepsin A pseudogene Neighboring gene cortexin domain containing 1 Neighboring gene STARR-positive B cell enhancer mm9_chr7:91742914-91743215 Neighboring gene STARR-seq mESC enhancer starr_19439 Neighboring gene zinc finger, AN1-type domain 6 Neighboring gene STARR-positive B cell enhancer ABC_E2830 Neighboring gene RIKEN cDNA 2610206C17 gene Neighboring gene STARR-positive B cell enhancer mm9_chr7:91838324-91838625 Neighboring gene STARR-seq mESC enhancer starr_19440 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:91898346-91898547 Neighboring gene STARR-positive B cell enhancer mm9_chr7:91898675-91898976 Neighboring gene transformation related protein 63 regulated like, pseudogene 1 Neighboring gene predicted gene, 57784

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. A versatile transposon-based technology to generate loss- and gain-of-function phenotypes in the mouse liver. Kopasz AG, et al. BMC Biol, 2022 Apr 1. PMID 35361222, Free PMC Article
    2. A Three-Dimensional Imaging Method for the Quantification and Localization of Dynamic Cell Tracking Posttransplantation. Lu F, et al. Front Cell Dev Biol, 2021. PMID 34557483, Free PMC Article
    3. Chemical modifications of adenine base editor mRNA and guide RNA expand its application scope. Jiang T, et al. Nat Commun, 2020 Apr 24. PMID 32332735, Free PMC Article
    4. A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I. Balestra D, et al. Int J Mol Sci, 2020 Mar 20. PMID 32244944, Free PMC Article
    5. Adenine base editing in an adult mouse model of tyrosinaemia. Song CQ, et al. Nat Biomed Eng, 2020 Jan. PMID 31740768, Free PMC Article

    See all (118) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I.
      Title: Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables catalytic activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables fumarylacetoacetase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables fumarylacetoacetase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    acts_upstream_of_or_within arginine catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in aromatic amino acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in homogentisate catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in tyrosine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    fumarylacetoacetase
    Names
    FAA
    beta-diketonase
    NP_034306.2

    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)

    1. 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

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      84234367..84255150 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P35505.2 GenPept UniProtKB/Swiss-Prot:P35505

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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