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FAH fumarylacetoacetate hydrolase [ Homo sapiens (human) ]

Gene ID: 2184, updated on 13-Feb-2019

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

Genomic context

See FAH in Genome Data Viewer
Location:
15q25.1
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (80152823..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

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

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
fumarylacetoacetase activity IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
homogentisate catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tyrosine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
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
XP_024305640.1

NCBI Reference Sequences (RefSeq)

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, ENST00000561421.5
    Conserved Domains (1) summary
    TIGR01266
    Location:2416
    fum_ac_acetase; fumarylacetoacetase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    80152823..80186582
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449872.1XP_024305640.1  fumarylacetoacetase isoform X1

    Related
    ENSP00000385080.1, ENST00000407106.5
    Conserved Domains (1) summary
    TIGR01266
    Location:2416
    fum_ac_acetase; fumarylacetoacetase
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