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

Gene ID: 2184, updated on 26-Aug-2014
Official Symbol
FAHprovided by HGNC
Official Full Name
fumarylacetoacetate hydrolase (fumarylacetoacetase)provided by HGNC
Primary source
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]
Location:
15q25.1
Exon count:
14
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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
 
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 vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
fumarylacetoacetase
Names
fumarylacetoacetase
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 

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

mRNA and Protein(s)

  1. NM_000137.2NP_000128.1  fumarylacetoacetase

    See proteins identical to 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
    Blast Score: 2087
    fum_ac_acetase; fumarylacetoacetase
    pfam01557
    Location:124359
    Blast Score: 319
    FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family
    pfam09298
    Location:15118
    Blast Score: 368
    FAA_hydrolase_N; Fumarylacetoacetase N-terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000015.10 

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

Alternate HuRef

Genomic

  1. AC_000147.1 

    Range
    57208400..57236922
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 

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