FAH

Protein identityUniProt · HPA

UniProt accession

P16930

Gene

FAH

Ensembl

ENSG00000103876

Chromosome

15

Canonical length

419 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

Predicted to enable fumarylacetoacetase activity. Predicted to be involved in L-phenylalanine catabolic process; homogentisate catabolic process; and tyrosine catabolic process. Predicted to act upstream of or within arginine catabolic process. Located in extracellular exosome. Implicated in tyrosinemia type I. [provided by Alliance of Genome Resources, Apr 2025]

Canonical amino-acid sequenceUniProt

419 residues, UniProt reviewed canonical sequence.

>P16930|FAH
     1  MSFIPVAEDS DFPIHNLPYG VFSTRGDPRP RIGVAIGDQI LDLSIIKHLF TGPVLSKHQD
    61  VFNQPTLNSF MGLGQAAWKE ARVFLQNLLS VSQARLRDDT ELRKCAFISQ ASATMHLPAT
   121  IGDYTDFYSS RQHATNVGIM FRDKENALMP NWLHLPVGYH GRASSVVVSG TPIRRPMGQM
   181  KPDDSKPPVY GACKLLDMEL EMAFFVGPGN RLGEPIPISK AHEHIFGMVL MNDWSARDIQ
   241  KWEYVPLGPF LGKSFGTTVS PWVVPMDALM PFAVPNPKQD PRPLPYLCHD EPYTFDINLS
   301  VNLKGEGMSQ AATICKSNFK YMYWTMLQQL THHSVNGCNL RPGDLLASGT ISGPEPENFG
   361  SMLELSWKGT KPIDLGNGQT RKFLLDGDEV IITGYCQGDG YRIGFGQCAG KVLPALLPS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FAH can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.23

Highest tissue expression

283 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FAH.

Disease | AllUniProt

Conditions FAH is implicated in, by any mechanism.

• Tyrosinemia 1 (TYRSN1) MIM:276700

Disease | GeneticClinVar

188 pathogenic / likely-pathogenic of 902 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Tyrosinemia type I
• FAH-related disorder
• Tyrosinemia
• Inborn genetic diseases
• Ovarian serous cystadenocarcinoma

ReferencesPubMed · IEDB

Publications for FAH from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.41

gnomAD pLI

0

gnomAD missense Z

-0.03

DepMap mean gene effect

-0.01

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• L-arginine catabolic process
• L-phenylalanine catabolic process
• L-tyrosine catabolic process
• lipid metabolic process
• homogentisate catabolic process

Molecular functions

• metal ion binding
• fumarylacetoacetase activity

Cellular components

• cytosol
• extracellular exosome

Protein domainsUniProt · Pfam · InterPro

• Fumarylacetoacetase-like, C-terminal
• Fumarylacetoacetase-like, C-terminal domain superfamily
• Fumarylacetoacetate (FAA) hydrolase C-terminal
• Fumarylacetoacetase
• Fumarylacetoacetase, N-terminal
• Fumarylacetoacetase, N-terminal domain superfamily
• Fumarylacetoacetase N-terminal

KeywordsUniProt

• Acetylation
• Calcium
• Hydrolase
• Lipid metabolism
• Magnesium
• Metal-binding
• Phenylalanine catabolism
• Phosphoprotein
• Tyrosine catabolism