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    FAH fumarylacetoacetate hydrolase [ Homo sapiens (human) ]

    Gene ID: 2184, updated on 21-Dec-2017
    Official Symbol
    FAHprovided by HGNC
    Official Full Name
    fumarylacetoacetate hydrolaseprovided by HGNC
    Primary source
    HGNC:HGNC:3579
    See related
    Ensembl:ENSG00000103876 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]
    Expression
    Broad expression in liver (RPKM 62.1), fat (RPKM 60.9) and 20 other tissues See more
    Orthologs
    Location:
    15q25.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 regulatory subunit M2 pseudogene Neighboring gene zinc finger AN1-type containing 6 Neighboring gene cortexin domain containing 1 Neighboring gene long intergenic non-protein coding RNA 927

    • 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 Jun 15 11:32:44 2016

    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
    PubMed 
    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
     
    tyrosine catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    Preferred Names
    fumarylacetoacetase
    Names
    FAA
    beta-diketonase
    fumarylacetoacetate hydrolase (fumarylacetoacetase)
    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
      ENSP00000453347.1, OTTHUMP00000247619, ENST00000561421.5, OTTHUMT00000416756
      Conserved Domains (3) summary
      TIGR01266
      Location:2416
      fum_ac_acetase; fumarylacetoacetase
      pfam01557
      Location:124412
      FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family
      pfam09298
      Location:15118
      FAA_hydrolase_N; Fumarylacetoacetase N-terminal

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p7 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)
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