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    FAH fumarylacetoacetate hydrolase [ Homo sapiens (human) ]

    Gene ID: 2184, updated on 23-Nov-2023

    Summary

    Official Symbol
    FAHprovided by HGNC
    Official Full Name
    fumarylacetoacetate hydrolaseprovided by HGNC
    Primary source
    HGNC:HGNC:3579
    See related
    Ensembl:ENSG00000103876 MIM:613871; AllianceGenome:HGNC:3579
    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
    Predicted to enable fumarylacetoacetase activity. Predicted to be involved in L-phenylalanine catabolic process; homogentisate catabolic process; and tyrosine catabolic process. Predicted to act upstream of or within arginine catabolic process. Located in extracellular exosome. Implicated in tyrosinemia type I. [provided by Alliance of Genome Resources, Apr 2022]
    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
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (80152789..80186949)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (78016209..78050378)
    105.20220307 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:80293949-80294721 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:80295257-80296456 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9942 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:80320394-80320775 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:80324347-80325092 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:80325093-80325836 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:80325837-80326580 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:80332051-80332550 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:80351696-80352024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9943 Neighboring gene zinc finger AN1-type containing 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:80404705-80405431 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6731 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr15:80452567-80453210 and GRCh37_chr15:80453211-80453853 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:80460174-80460674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:80478509-80479009 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41453 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41475 Neighboring gene cortexin domain containing 1 Neighboring gene NANOG hESC enhancer GRCh37_chr15:80534358-80534901 Neighboring gene long intergenic non-protein coding RNA 927 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:80610139-80610639

    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

    Clone Names

    • FLJ51912

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables fumarylacetoacetase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    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
     
    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
     
    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)

    NEW Try the new Transcript table

    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
      B2R9X1, D3DW95, P16930, Q53XA7
      UniProtKB/TrEMBL
      A0A384P5L6
      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
      Consensus CDS
      CCDS10314.1
      UniProtKB/Swiss-Prot
      B2R9X1, D3DW95, P16930, Q53XA7
      UniProtKB/TrEMBL
      A0A384P5L6
      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
      Consensus CDS
      CCDS10314.1
      UniProtKB/Swiss-Prot
      B2R9X1, D3DW95, P16930, Q53XA7
      UniProtKB/TrEMBL
      A0A384P5L6
      Related
      ENSP00000261755.5, ENST00000261755.9
      Conserved Domains (1) summary
      TIGR01266
      Location:2416
      fum_ac_acetase; fumarylacetoacetase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      78016209..78050378
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)