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Fah
Gene Detail
Symbol

Name
ID
Fah
fumarylacetoacetate hydrolase
MGI:95482
Feature Type
protein coding gene
Genetic Map
Chromosome 7
48.36 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)
Sequence Map
Chr7:84585159-84606722 bp, - strand
From VEGA annotation of GRCm38

  21564 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:110  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: FAH
Gene Tree: Fah

Human
homologs
FAH, fumarylacetoacetate hydrolase (fumarylacetoacetase)
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 2184
neXtProt AC: NX_P16930

Human Chr (Location): 15q25.1; chr15:80152891-80186582 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human FAH

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Chemically induced (ENU)(2) Gene trapped(2) Targeted(2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygotes for targeted, deletion, and ENU-induced mutations die perinatally with liver and kidney dysfunction, hypoglycemia, and grossly altered liver mRNA expression.
 
Human Diseases Modeled in Mice Using Fah (1)    Mutations Annotated to Human Diseases (3)    Phenotype Images(1)
Interactions
Fah interacts with 18 markers (Mir31, Mir188, Mir207, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (11 annotations)
Process arginine catabolic process, aromatic amino acid family metabolic process, ...
Component extracellular exosome
Function catalytic activity, fumarylacetoacetase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (132)    Tissues (104)    Images (33)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 126
RT-PCR 6
cDNA source data(166)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA FAH ; Xenbase fah ; ZFIN fah    NEW 
Molecular
reagents
All nucleic(182) Genomic(15) cDNA(166) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000025072 (Evidence)
Ensembl Gene Model ENSMUSG00000030630 (Evidence)
Entrez Gene 14085 (Evidence)
UniGene 3798
DFCI TC1574751, TC1674155
DoTS DT.111018026, DT.495228, DT.94176516, DT.97333930
NIA Mouse Gene Index U028813
EC 3.7.1.2
PDB 1HYO, 1QCN, 1QCO, 1QQJ, 2HZY
Consensus CDS Project CCDS21418.1
International Mouse Phenotyping Consortium Status Fah
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025072 VEGA Gene Model | MGI Sequence Detail 21564 C57BL/6J ±  kb
transcript OTTMUST00000061684 VEGA | MGI Sequence Detail 1470 Not Applicable 
polypeptide OTTMUSP00000030308 VEGA | MGI Sequence Detail 419 Not Applicable 

For the selected sequences
All sequences(37) RefSeq(2) UniProt(2)
Polymorphisms
SNPs within 2kb(301 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR005959 Fumarylacetoacetase
InterPro IPR002529 Fumarylacetoacetase, C-terminal
InterPro IPR011234 Fumarylacetoacetase, C-terminal-related
InterPro IPR015377 Fumarylacetoacetase, N-terminal
Protein Ontology PR:000007323 fumarylacetoacetase
References
(Earliest) J:13711 Guenet JL, fri. Mouse News Lett. 1977;56:57
(Latest) J:218537 Tarlow BD, et al., Bipotential adult liver progenitors are derived from chronically injured mature hepatocytes. Cell Stem Cell. 2014 Nov 6;15(5):605-18
All references(78)
Disease annotation references (9)
Other
accession IDs
MGD-MRK-9709

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/20/2015
MGI 5.22
The Jackson Laboratory