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    FAH fumarylacetoacetate hydrolase [ Equus caballus (horse) ]

    Gene ID: 100049804, updated on 17-Aug-2024

    Summary

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    Official Symbol
    FAHprovided by VGNC
    Official Full Name
    fumarylacetoacetate hydrolaseprovided by VGNC
    Primary source
    VGNC:VGNC:17777
    See related
    Ensembl:ENSECAG00000000939
    Gene type
    protein coding
    RefSeq status
    MODEL
    Organism
    Equus caballus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Perissodactyla; Equidae; Equus
    Orthologs
    human mouse all
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    Genomic context

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    See FAH in Genome Data Viewer
    Location:
    chromosome: 1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current EquCab3.0 (GCF_002863925.1) 1 NC_009144.3 (115414144..115449491, complement)

    Chromosome 1 - NC_009144.3Genomic Context describing neighboring genes Neighboring gene cytoplasmic FMR1-interacting protein 1 Neighboring gene cortexin domain containing 1 Neighboring gene zinc finger AN1-type containing 6 Neighboring gene BCL2 related protein A1

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_009144.3 Chromosome 1 Reference EquCab3.0 Primary Assembly

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Annotation of the Protein Coding Regions of the Equine Genome. Hestand MS, et al. PLoS One, 2015. PMID 26107351, Free PMC Article
    2. Manual GO annotation of predictive protein signatures: the InterPro approach to GO curation. Burge S, et al. Database (Oxford), 2012. PMID 22301074, Free PMC Article
    3. TreeGrafter: phylogenetic tree-based annotation of proteins with Gene Ontology terms and other annotations. Tang H, et al. Bioinformatics, 2019 Feb 1. PMID 30032202, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RefSeq

    Function Evidence Code Pubs
    enables fumarylacetoacetase activity IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in L-phenylalanine catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in homogentisate catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in tyrosine catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    fumarylacetoacetase

    NCBI Reference Sequences (RefSeq)

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    RefSeqs of Annotated Genomes: GCF_002863925.1-RS_2024_08

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

    Reference EquCab3.0 Primary Assembly

    Genomic

    1. NC_009144.3 Reference EquCab3.0 Primary Assembly

      Range
      115414144..115449491 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_014733863.2 → XP_014589349.1  fumarylacetoacetase isoform X2

      UniProtKB/TrEMBL
      A0A9L0SYQ5
      Related
      ENSECAP00000079115.1, ENSECAT00000104784.1
      Conserved Domains (2) summary
      pfam01557
      Location:124 → 273
      FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family
      pfam09298
      Location:15 → 118
      FAA_hydrolase_N; Fumarylacetoacetase N-terminal

    2. XM_001487834.5 → XP_001487884.1  fumarylacetoacetase isoform X1

      UniProtKB/TrEMBL
      A0A9L0SUH4, A0A9L0TTK0
      Related
      ENSECAP00000089759.1, ENSECAT00000102304.1
      Conserved Domains (3) summary
      TIGR01266
      Location:2 → 416
      fum_ac_acetase; fumarylacetoacetase
      pfam01557
      Location:124 → 412
      FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family
      pfam09298
      Location:15 → 118
      FAA_hydrolase_N; Fumarylacetoacetase N-terminal
    Nucleotide Protein
    Heading Accession and Version

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    Research Materials