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    FAH fumarylacetoacetate hydrolase [ Homo sapiens (human) ]

    Gene ID: 2184, updated on 8-Jul-2021

    Summary

    Official Symbol
    FAHprovided by HGNC
    Official Full Name
    fumarylacetoacetate hydrolaseprovided by HGNC
    Primary source
    HGNC:HGNC:3579
    See related
    Ensembl:ENSG00000103876 MIM:613871
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Expression
    Broad expression in liver (RPKM 62.1), fat (RPKM 60.9) and 20 other tissues See more
    Orthologs
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    Genomic context

    See FAH in Genome Data Viewer
    Location:
    15q25.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (80152789..80186949)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (80445131..80479291)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ribonucleotide reductase regulatory subunit M2 pseudogene Neighboring gene zinc finger AN1-type containing 6 Neighboring gene Sharpr-MPRA regulatory region 12283 Neighboring gene cortexin domain containing 1 Neighboring gene long intergenic non-protein coding RNA 927

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ51912

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables fumarylacetoacetase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in L-phenylalanine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in L-phenylalanine catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in arginine catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homogentisate catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in tyrosine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 

    General protein information

    Preferred Names
    fumarylacetoacetase
    Names
    FAA
    beta-diketonase
    epididymis secretory sperm binding protein
    fumarylacetoacetate hydrolase (fumarylacetoacetase)
    NP_000128.1
    NP_001361306.1
    NP_001361309.1

    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.

    Genomic

    1. NG_012833.1 RefSeqGene

      Range
      5001..38351
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000137.4NP_000128.1  fumarylacetoacetase

      See identical proteins and their annotated locations for NP_000128.1

      Status: REVIEWED

      Source sequence(s)
      AK313951, BU679766
      Consensus CDS
      CCDS10314.1
      UniProtKB/Swiss-Prot
      P16930
      Related
      ENSP00000453347.2, ENST00000561421.6
      Conserved Domains (1) summary
      TIGR01266
      Location:2416
      fum_ac_acetase; fumarylacetoacetase
    2. NM_001374377.1NP_001361306.1  fumarylacetoacetase

      Status: REVIEWED

      Source sequence(s)
      AC087761
      Related
      ENSP00000385080.1, ENST00000407106.5
      Conserved Domains (1) summary
      TIGR01266
      Location:2416
      fum_ac_acetase; fumarylacetoacetase
    3. NM_001374380.1NP_001361309.1  fumarylacetoacetase

      Status: REVIEWED

      Source sequence(s)
      AC087761
      Related
      ENSP00000261755.5, ENST00000261755.9
      Conserved Domains (1) summary
      TIGR01266
      Location:2416
      fum_ac_acetase; fumarylacetoacetase

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

      Range
      80152789..80186949
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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