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Fah fumarylacetoacetate hydrolase [ Mus musculus (house mouse) ]

Gene ID: 14085, updated on 27-Feb-2024

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, Apr 2022]
Expression
Biased expression in liver adult (RPKM 290.9), kidney adult (RPKM 236.1) and 9 other tissues See more
Orthologs
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Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 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 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
 
acts_upstream_of_or_within tyrosine catabolic process IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_010176.4NP_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:2416
    fum_ac_acetase; fumarylacetoacetase
    pfam01557
    Location:124390
    FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family
    pfam09298
    Location:15118
    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)