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Aliases for FAH Gene

Aliases for FAH Gene

  • Fumarylacetoacetate Hydrolase (Fumarylacetoacetase) 2 3
  • Beta-Diketonase 3 4
  • EC 3.7.1.2 4 64
  • FAA 3 4
  • Fumarylacetoacetate Hydrolase 4
  • Fumarylacetoacetase 3

External Ids for FAH Gene

Summaries for FAH Gene

Entrez Gene Summary for FAH Gene

  • 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]

GeneCards Summary for FAH Gene

FAH (Fumarylacetoacetate Hydrolase (Fumarylacetoacetase)) is a Protein Coding gene. Diseases associated with FAH include tyrosinemia, type i and tyrosinemia. Among its related pathways are Metabolism and Metabolism.

Gene Wiki entry for FAH Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAH Gene

Genomics for FAH Gene

Genomic Location for FAH Gene

Start:
80,152,490 bp from pter
End:
80,186,946 bp from pter
Size:
34,457 bases
Orientation:
Plus strand

Genomic View for FAH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FAH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAH Gene

Proteins for FAH Gene

  • Protein details for FAH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16930-FAAA_HUMAN
    Recommended name:
    Fumarylacetoacetase
    Protein Accession:
    P16930
    Secondary Accessions:
    • B2R9X1
    • D3DW95
    • Q53XA7

    Protein attributes for FAH Gene

    Size:
    419 amino acids
    Molecular mass:
    46374 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer.

    Alternative splice isoforms for FAH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAH Gene

Proteomics data for FAH Gene at MOPED

Selected DME Specific Peptides for FAH Gene

Post-translational modifications for FAH Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys241

Other Protein References for FAH Gene

Domains for FAH Gene

UniProtKB/Swiss-Prot:

FAAA_HUMAN
Family:
  • Belongs to the FAH family.:
    • P16930
genes like me logo Genes that share domains with FAH: view

No data available for Gene Families for FAH Gene

Function for FAH Gene

Molecular function for FAH Gene

GENATLAS Biochemistry: fumarylacetoacetate hydrolase,catalyzing the fifth step of tyrosine catabolism
UniProtKB/Swiss-Prot CatalyticActivity: 4-fumarylacetoacetate + H(2)O = acetoacetate + fumarate.

Enzyme Numbers (IUBMB) for FAH Gene

Gene Ontology (GO) - Molecular Function for FAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004334 fumarylacetoacetase activity EXP --
GO:0005515 protein binding IPI 25416956
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FAH: view
genes like me logo Genes that share phenotypes with FAH: view

Animal Models for FAH Gene

MGI Knock Outs for FAH:

miRNA for FAH Gene

No data available for Transcription Factor Targeting and HOMER Transcription for FAH Gene

Localization for FAH Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAH Gene COMPARTMENTS Subcellular localization image for FAH gene
Compartment Confidence
cytosol 4
cytoskeleton 1
endoplasmic reticulum 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for FAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with FAH: view

Pathways for FAH Gene

genes like me logo Genes that share pathways with FAH: view

Pathways by source for FAH Gene

2 KEGG pathways for FAH Gene

UniProtKB/Swiss-Prot P16930-FAAA_HUMAN

  • Pathway: Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 6/6

Gene Ontology (GO) - Biological Process for FAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006527 arginine catabolic process IEA --
GO:0006559 L-phenylalanine catabolic process TAS --
GO:0006572 tyrosine catabolic process IEA --
GO:0008152 metabolic process --
GO:0009072 aromatic amino acid family metabolic process --
genes like me logo Genes that share ontologies with FAH: view

Compounds for FAH Gene

(6) HMDB Compounds for FAH Gene

Compound Synonyms Cas Number PubMed IDs
4-Fumarylacetoacetic acid
  • (E)-4,6-dioxo-2-Octenedioate
28613-33-4
Acetoacetic acid
  • 3-Ketobutyrate
541-50-4
Calcium
  • Ca
7440-70-2
Fumaric acid
  • (2E)-But-2-enedioate
110-17-8
Magnesium
  • Magnesium
7439-95-4

(3) Drugbank Compounds for FAH Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
4-[Hydroxy-[Methyl-Phosphinoyl]]-3-Oxo-Butanoic Acid
target
Acetoacetic Acid
541-50-4 target
Fumarate
110-17-8 target

(19) Novoseek inferred chemical compound relationships for FAH Gene

Compound -log(P) Hits PubMed IDs
fumarylacetoacetate 99.4 105
succinylacetone 96.5 12
succinylacetoacetate 93.6 1
2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione 92.2 1
maleylacetoacetate 91.2 2
genes like me logo Genes that share compounds with FAH: view

Transcripts for FAH Gene

Unigene Clusters for FAH Gene

Fumarylacetoacetate hydrolase (fumarylacetoacetase):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FAH Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a ·
SP1: - - - - - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - -
SP5: - -
SP6: -
SP7:
SP8:

ExUns: 15b ^ 16a · 16b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for FAH Gene

GeneLoc Exon Structure for
FAH
ECgene alternative splicing isoforms for
FAH

Expression for FAH Gene

mRNA expression in normal human tissues for FAH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAH Gene

This gene is overexpressed in Liver (8.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FAH Gene

SOURCE GeneReport for Unigene cluster for FAH Gene Hs.73875

mRNA Expression by UniProt/SwissProt for FAH Gene

P16930-FAAA_HUMAN
Tissue specificity: Mainly expressed in liver and kidney. Lower levels are also detected in many other tissues
genes like me logo Genes that share expressions with FAH: view

Orthologs for FAH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FAH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAH 36
  • 99.2 (n)
  • 99.05 (a)
FAH 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FAH 36
  • 89.34 (n)
  • 91.35 (a)
FAH 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAH 36
  • 87.91 (n)
  • 89.71 (a)
FAH 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fah 36
  • 84.17 (n)
  • 88.78 (a)
Fah 16
Fah 37
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAH 37
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAH 37
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fah 36
  • 84.81 (n)
  • 88.54 (a)
chicken
(Gallus gallus)
Aves FAH 36
  • 73.24 (n)
  • 80.77 (a)
FAH 37
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAH 37
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia fah-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia fah 36
  • 70.75 (n)
  • 76.44 (a)
Str.14142 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1256 36
zebrafish
(Danio rerio)
Actinopterygii fah 36
  • 71.1 (n)
  • 75.43 (a)
fah 37
  • 77 (a)
OneToOne
wufb59b12 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005865 36
  • 61.14 (n)
  • 62.44 (a)
fruit fly
(Drosophila melanogaster)
Insecta Faa 36
  • 60.7 (n)
  • 61.52 (a)
Faa 37
  • 60 (a)
OneToOne
Faa 38
  • 63 (a)
worm
(Caenorhabditis elegans)
Secernentea fah-1 36
  • 59.89 (n)
  • 65.13 (a)
fah-1 37
  • 64 (a)
OneToOne
K10C2.4 38
  • 64 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.12826 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G12050 36
  • 58.9 (n)
  • 58.74 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.4554 36
rice
(Oryza sativa)
Liliopsida Os02g0196800 36
  • 58.27 (n)
  • 58.6 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU05537 36
  • 54.87 (n)
  • 51.35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6721 37
  • 67 (a)
OneToOne
Species with no ortholog for FAH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FAH Gene

ENSEMBL:
Gene Tree for FAH (if available)
TreeFam:
Gene Tree for FAH (if available)

Paralogs for FAH Gene

Selected SIMAP similar genes for FAH Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with FAH: view

No data available for Paralogs for FAH Gene

Variants for FAH Gene

Sequence variations from dbSNP and Humsavar for FAH Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs733679 -- 80,160,544(+) ATCTG(G/T)GTGGA intron-variant
rs1030865 -- 80,179,164(-) AGGAT(A/G)TGGAG intron-variant
rs1049165 -- 80,181,129(+) AGTTT(C/T)TGCTG reference, synonymous-codon
rs1049181 -- 80,186,247(+) CAAGC(A/C)CCCCT utr-variant-3-prime
rs1049194 -- 80,186,303(+) CGCCA(C/T)TCAGT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for FAH Gene

Variant ID Type Subtype PubMed ID
nsv1634 CNV Loss 18451855
nsv817700 CNV Loss 17921354

Relevant External Links for FAH Gene

HapMap Linkage Disequilibrium report
FAH
Human Gene Mutation Database (HGMD)
FAH

Disorders for FAH Gene

(1) OMIM Diseases for FAH Gene (613871)

UniProtKB/Swiss-Prot

FAAA_HUMAN
  • Tyrosinemia 1 (TYRSN1) [MIM:276700]: An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and hepatorenal manifestations. Typical features include hepatic necrosis, renal tubular injury, episodic weakness, self-mutilation, and seizures. Renal tubular dysfunction is associated with phosphate loss and hypophosphataemic rickets. Progressive liver disease can lead to the development of hepatocellular carcinoma. Dietary treatment with restriction of tyrosine and phenylalanine alleviates the rickets, but liver transplantation has so far been the only definite treatment. {ECO:0000269 PubMed:11196105, ECO:0000269 PubMed:11476670, ECO:0000269 PubMed:1401056, ECO:0000269 PubMed:20003495, ECO:0000269 PubMed:7550234, ECO:0000269 PubMed:7757089, ECO:0000269 PubMed:7942842, ECO:0000269 PubMed:7977370, ECO:0000269 PubMed:8005583, ECO:0000269 PubMed:8318997, ECO:0000269 PubMed:8364576, ECO:0000269 PubMed:8557261, ECO:0000269 PubMed:9633815}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for FAH Gene

(14) Novoseek inferred disease relationships for FAH Gene

Disease -log(P) Hits PubMed IDs
tyrosinemia type i 98.3 38
tyrosinemias 98 45
tyrosinemia type ii 80.3 1
rickets 69.4 1
metabolic disorder 66.6 12

Genatlas disease for FAH Gene

tyrosinemia I,hepatorenal

Relevant External Links for FAH

GeneTests
FAH
GeneReviews
FAH
Genetic Association Database (GAD)
FAH
Human Genome Epidemiology (HuGE) Navigator
FAH
genes like me logo Genes that share disorders with FAH: view

Publications for FAH Gene

  1. Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15. (PMID: 1998338) Phaneuf D. … Tanguay R.M. (Am. J. Hum. Genet. 1991) 2 3 4 23
  2. Nucleotide sequence of cDNA encoding human fumarylacetoacetase. (PMID: 2336361) Agsteribbe E. … Berger R. (Nucleic Acids Res. 1990) 2 3 4 23
  3. Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1. (PMID: 7550234) Hahn S.H. … Gahl W.A. (Hum. Mutat. 1995) 3 4 23
  4. Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1. (PMID: 7942842) Rootwelt H. … Kvittingen E.A. (Am. J. Hum. Genet. 1994) 3 4 23
  5. Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I. (PMID: 7977370) Rootwelt H. … Kvittingen E.A. (Am. J. Hum. Genet. 1994) 3 4 23

Products for FAH Gene

Sources for FAH Gene

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