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Aliases for FAH Gene

Aliases for FAH Gene

  • Fumarylacetoacetate Hydrolase 2 3 4
  • Fumarylacetoacetate Hydrolase (Fumarylacetoacetase) 3 5
  • Fumarylacetoacetase 2 3
  • Beta-Diketonase 3 4
  • EC 3.7.1.2 4 61
  • FAA 3 4

External Ids for FAH Gene

Previous GeneCards Identifiers for FAH Gene

  • GC15P076401
  • GC15P073602
  • GC15P078021
  • GC15P078161
  • GC15P078232
  • GC15P080445
  • GC15P057208

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) is a Protein Coding gene. Diseases associated with FAH include Tyrosinemia, Type I and Fanconi Anemia, Complementation Group A. Among its related pathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Metabolism. GO annotations related to this gene include fumarylacetoacetase activity.

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

Regulatory Elements for FAH Gene

Enhancers for FAH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around FAH on UCSC Golden Path with GeneCards custom track

Promoters for FAH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FAH on UCSC Golden Path with GeneCards custom track

Genomic Location for FAH Gene

Chromosome:
15
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

Genes around FAH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for FAH Gene

Post-translational modifications for FAH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAH Gene

Antibody Products

Domains & Families for FAH Gene

Suggested Antigen Peptide Sequences for FAH Gene

Graphical View of Domain Structure for InterPro Entry

P16930

UniProtKB/Swiss-Prot:

FAAA_HUMAN :
  • Belongs to the FAH family.
Family:
  • Belongs to the FAH family.
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:0004334 fumarylacetoacetase activity EXP 8364576
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

Human Phenotype Ontology for FAH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FAH Gene

MGI Knock Outs for FAH:

Animal Model Products

CRISPR Products

miRNA for FAH Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets 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 5
extracellular 5
mitochondrion 2
cytoskeleton 1
endoplasmic reticulum 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

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FAH Gene

Pathways & Interactions for FAH Gene

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

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 --
genes like me logo Genes that share ontologies with FAH: view

No data available for SIGNOR curated interactions for FAH Gene

Drugs & Compounds for FAH Gene

(10) Drugs for FAH Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
SB-649868 Experimental Pharma Antagonist, Target 0
Acetoacetic acid Experimental Pharma Target 0
4-[Hydroxy-[Methyl-Phosphinoyl]]-3-Oxo-Butanoic Acid Experimental Pharma Target 0
calcium Nutra 0

(14) Additional Compounds for FAH Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-Fumarylacetoacetic acid
  • (E)-4,6-dioxo-2-Octenedioate
  • (E)-4,6-dioxo-2-Octenedioic acid
  • 4-Fumaryl-acetoacetate
  • 4-Fumarylacetoacetate
  • Fumarylacetoacetate
28613-33-4
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 (x8.7).

Protein differential expression in normal tissues from HIPED for FAH Gene

This gene is overexpressed in Liver, secretome (32.4) and Nasopharynx (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FAH Gene



NURSA nuclear receptor signaling pathways regulating expression of FAH Gene:

FAH

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 expression patterns with FAH: view

Primer Products

No data available for Protein tissue co-expression partners for FAH Gene

Orthologs for FAH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FAH Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FAH 34
  • 89.34 (n)
  • 91.35 (a)
FAH 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAH 34
  • 87.91 (n)
  • 89.71 (a)
FAH 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fah 34
  • 84.17 (n)
  • 88.78 (a)
Fah 16
Fah 35
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FAH 34
  • 99.2 (n)
  • 99.05 (a)
FAH 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fah 34
  • 84.81 (n)
  • 88.54 (a)
oppossum
(Monodelphis domestica)
Mammalia FAH 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAH 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAH 34
  • 73.24 (n)
  • 80.77 (a)
FAH 35
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAH 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fah 34
  • 70.75 (n)
  • 76.44 (a)
Str.14142 34
African clawed frog
(Xenopus laevis)
Amphibia fah-prov 34
zebrafish
(Danio rerio)
Actinopterygii fah 34
  • 71.1 (n)
  • 75.43 (a)
wufb59b12 34
fah 35
  • 77 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1256 34
fruit fly
(Drosophila melanogaster)
Insecta Faa 36
  • 63 (a)
Faa 34
  • 60.7 (n)
  • 61.52 (a)
Faa 35
  • 60 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005865 34
  • 61.14 (n)
  • 62.44 (a)
worm
(Caenorhabditis elegans)
Secernentea K10C2.4 36
  • 64 (a)
fah-1 34
  • 59.89 (n)
  • 65.13 (a)
fah-1 35
  • 64 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G12050 34
  • 58.9 (n)
  • 58.74 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.12826 34
barley
(Hordeum vulgare)
Liliopsida Hv.4554 34
rice
(Oryza sativa)
Liliopsida Os02g0196800 34
  • 58.27 (n)
  • 58.6 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU05537 34
  • 54.87 (n)
  • 51.35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6721 35
  • 67 (a)
OneToOne
Species where no ortholog for FAH was found in the sources mined by GeneCards:
  • 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

(1) 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
rs121965073 Tyrosinemia 1 (TYRSN1) 80,153,101(+) CCACA(A/G/T)CCTGC reference, missense
VAR_005206 Tyrosinemia 1 (TYRSN1)
rs80338894 Tyrosinemia 1 (TYRSN1) 80,158,170(+) AATCA(G/T)GTAGG reference, missense
rs121965074 Tyrosinemia 1 (TYRSN1) 80,162,282(+) GCATG(A/C)TACCA reference, missense
VAR_005209 Tyrosinemia 1 (TYRSN1)

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

Variant ID Type Subtype PubMed ID
esv3637014 CNV loss 21293372
nsv1071223 CNV deletion 25765185
nsv1634 CNV deletion 18451855
nsv817700 CNV loss 17921354

Variation tolerance for FAH Gene

Residual Variation Intolerance Score: 39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.67; 45.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAH Gene

Human Gene Mutation Database (HGMD)
FAH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAH Gene

Disorders for FAH Gene

MalaCards: The human disease database

(11) MalaCards diseases for FAH Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
tyrosinemia, type i
  • tyrosinemia type i
fanconi anemia, complementation group a
  • fanconi's anemia
tyrosinemia
  • hereditary tyrosinemia
tyrosinemia, type ii
  • tyrosinemia type ii
alkaptonuria
  • alcaptonuria
- elite association - COSMIC cancer census association via MalaCards
Search FAH in MalaCards View complete list of genes associated with diseases

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.

Genatlas disease for FAH Gene

tyrosinemia I,hepatorenal

Relevant External Links for FAH

Genetic Association Database (GAD)
FAH
Human Genome Epidemiology (HuGE) Navigator
FAH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 22 65
  2. Nucleotide sequence of cDNA encoding human fumarylacetoacetase. (PMID: 2336361) Agsteribbe E. … Berger R. (Nucleic Acids Res. 1990) 2 3 4 22 65
  3. Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1. (PMID: 11278491) Bergeron A. … Tanguay R.M. (J. Biol. Chem. 2001) 3 4 22 65
  4. A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation. (PMID: 11476670) Dreumont N. … Tanguay R.M. (BMC Genet. 2001) 3 4 22 65
  5. Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I. (PMID: 11196105) Kim S.Z. … Levy H.L. (J. Inherit. Metab. Dis. 2000) 3 4 22 65

Products for FAH Gene

Sources for FAH Gene

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