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    FAH fumarylacetoacetate hydrolase (fumarylacetoacetase) [ Homo sapiens (human) ]

    Gene ID: 2184, updated on 7-Feb-2016
    Official Symbol
    FAHprovided by HGNC
    Official Full Name
    fumarylacetoacetate hydrolase (fumarylacetoacetase)provided by HGNC
    Primary source
    HGNC:HGNC:3579
    See related
    Ensembl:ENSG00000103876; HPRD:02040; MIM:613871; Vega:OTTHUMG00000144187
    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]
    Orthologs
    Location:
    15q25.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (80152891..80186582)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (80445233..80478924)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ribonucleotide reductase M2 pseudogene Neighboring gene zinc finger, AN1-type domain 6 Neighboring gene long intergenic non-protein coding RNA 1314 Neighboring gene long intergenic non-protein coding RNA 927

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ51912

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    fumarylacetoacetase activity EXP
    Inferred from Experiment
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    L-phenylalanine catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    L-phenylalanine catabolic process TAS
    Traceable Author Statement
    more info
     
    arginine catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    cellular nitrogen compound metabolic process TAS
    Traceable Author Statement
    more info
     
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    tyrosine catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    fumarylacetoacetase
    Names
    FAA
    beta-diketonase
    NP_000128.1

    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
      4893..38584
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000137.2NP_000128.1  fumarylacetoacetase

      See identical proteins and their annotated locations for NP_000128.1

      Status: REVIEWED

      Source sequence(s)
      AK313951, BQ225295, BU679766
      Consensus CDS
      CCDS10314.1
      UniProtKB/Swiss-Prot
      P16930
      Related
      ENSP00000453347, OTTHUMP00000247619, ENST00000561421, OTTHUMT00000416756
      Conserved Domains (3) summary
      TIGR01266
      Location:2416
      fum_ac_acetase; fumarylacetoacetase
      pfam01557
      Location:124359
      FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family
      pfam09298
      Location:15118
      FAA_hydrolase_N; Fumarylacetoacetase N-terminal

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

      Range
      80152891..80186582
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      80563191..80596880
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)