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Entry version 184 (13 Feb 2019)
Sequence version 2 (01 Aug 1992)
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Protein

Fumarylacetoacetase

Gene

FAH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Protein has several cofactor binding sites:

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: L-phenylalanine degradation

This protein is involved in step 6 of the subpathway that synthesizes acetoacetate and fumarate from L-phenylalanine.
Proteins known to be involved in the 6 steps of the subpathway in this organism are:
  1. Phenylalanine-4-hydroxylase (PAH)
  2. Tyrosine aminotransferase (TAT)
  3. 4-hydroxyphenylpyruvate dioxygenase (HPD)
  4. Homogentisate 1,2-dioxygenase (HGD)
  5. Maleylacetoacetate isomerase (GSTZ1)
  6. Fumarylacetoacetase (FAH)
This subpathway is part of the pathway L-phenylalanine degradation, which is itself part of Amino-acid degradation.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes acetoacetate and fumarate from L-phenylalanine, the pathway L-phenylalanine degradation and in Amino-acid degradation.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi126CalciumBy similarity1
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei128SubstrateBy similarity1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei133Proton acceptorCurated1
Binding sitei142SubstrateBy similarity1
Metal bindingi199CalciumBy similarity1
Metal bindingi201CalciumBy similarity1
Metal bindingi233CalciumBy similarity1
Metal bindingi233MagnesiumBy similarity1
Binding sitei240SubstrateBy similarity1
Binding sitei244SubstrateBy similarity1
Metal bindingi253MagnesiumBy similarity1
Metal bindingi257MagnesiumBy similarity1
Binding sitei350SubstrateBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase
Biological processPhenylalanine catabolism, Tyrosine catabolism
LigandCalcium, Magnesium, Metal-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS02536-MONOMER

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-71182 Phenylalanine and tyrosine catabolism

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00139;UER00341

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Fumarylacetoacetase (EC:3.7.1.2By similarity)
Short name:
FAA
Alternative name(s):
Beta-diketonase
Fumarylacetoacetate hydrolase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FAH
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 15

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000103876.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3579 FAH

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
613871 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P16930

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Tyrosinemia 1 (TYRSN1)14 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:276700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00520516N → I in TYRSN1; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs121965073EnsemblClinVar.1
Natural variantiVAR_06545435A → T in TYRSN1; atypical mild phenotype. 1 Publication1
Natural variantiVAR_00520662F → C in TYRSN1; loss of activity. 1 Publication1
Natural variantiVAR_00520764Q → H in TYRSN1. Corresponds to variant dbSNP:rs80338894EnsemblClinVar.1
Natural variantiVAR_005208134A → D in TYRSN1; loss of activity. 3 PublicationsCorresponds to variant dbSNP:rs121965074EnsemblClinVar.1
Natural variantiVAR_005209158G → D in TYRSN1. 1 Publication1
Natural variantiVAR_005210166V → G in TYRSN1. 1 PublicationCorresponds to variant dbSNP:rs778387055EnsemblClinVar.1
Natural variantiVAR_005211193C → R in TYRSN1; loss of activity. 2 Publications1
Natural variantiVAR_005212207G → D in TYRSN1. Corresponds to variant dbSNP:rs754196530Ensembl.1
Natural variantiVAR_005213233D → V in TYRSN1; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs80338897EnsemblClinVar.1
Natural variantiVAR_005214234W → G in TYRSN1; loss of activity. 2 Publications1
Natural variantiVAR_005215249P → T in TYRSN1. 1
Natural variantiVAR_005216261P → L in TYRSN1. 1 PublicationCorresponds to variant dbSNP:rs80338898EnsemblClinVar.1
Natural variantiVAR_065455279Q → R in TYRSN1; may affect splicing resulting in skipping of exon 8 alone or together with exon 9; lower activity as compared to wild type. 3 PublicationsCorresponds to variant dbSNP:rs121965078EnsemblClinVar.1
Natural variantiVAR_005217294T → P in TYRSN1. Corresponds to variant dbSNP:rs370634385Ensembl.1
Natural variantiVAR_005218337G → S in TYRSN1. 1 PublicationCorresponds to variant dbSNP:rs80338900EnsemblClinVar.1
Natural variantiVAR_005220342P → L in TYRSN1; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs779040832EnsemblClinVar.1
Natural variantiVAR_005221366Missing in TYRSN1. 1 Publication1
Natural variantiVAR_005222369G → V in TYRSN1. 1 Publication1
Natural variantiVAR_005223381R → G in TYRSN1; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121965077EnsemblClinVar.1
Natural variantiVAR_005224405F → H in TYRSN1; requires 2 nucleotide substitutions. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
2184

MalaCards human disease database

More...
MalaCardsi
FAH
MIMi276700 phenotype

Open Targets

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OpenTargetsi
ENSG00000103876

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
882 Tyrosinemia type 1

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA27977

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB01832 4-[Hydroxy-[Methyl-Phosphinoyl]]-3-Oxo-Butanoic Acid
DB01762 Acetoacetic Acid
DB01677 Fumarate

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FAH

Domain mapping of disease mutations (DMDM)

More...
DMDMi
119778

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources1 Publication
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001568252 – 419FumarylacetoacetaseAdd BLAST418

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylserineCombined sources1 Publication1
Modified residuei92PhosphoserineBy similarity1
Modified residuei309PhosphoserineCombined sources1
Modified residuei395PhosphotyrosineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P16930

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P16930

MaxQB - The MaxQuant DataBase

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MaxQBi
P16930

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P16930

PeptideAtlas

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PeptideAtlasi
P16930

PRoteomics IDEntifications database

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PRIDEi
P16930

ProteomicsDB human proteome resource

More...
ProteomicsDBi
53401

2D gel databases

USC-OGP 2-DE database

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OGPi
P16930

REPRODUCTION-2DPAGE

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REPRODUCTION-2DPAGEi
IPI00031708

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P16930

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P16930

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P16930

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Mainly expressed in liver and kidney. Lower levels are also detected in many other tissues.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000103876 Expressed in 200 organ(s), highest expression level in liver

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P16930 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P16930 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA041370
HPA044093

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108479, 11 interactors

Protein interaction database and analysis system

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IntActi
P16930, 8 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000261755

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P16930

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P16930

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the FAH family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2843 Eukaryota
COG0179 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000008646

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000256845

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG001919

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P16930

KEGG Orthology (KO)

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KOi
K01555

Identification of Orthologs from Complete Genome Data

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OMAi
PNWLHIP

Database of Orthologous Groups

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OrthoDBi
980065at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P16930

TreeFam database of animal gene trees

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TreeFami
TF315211

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.30.30.230, 1 hit
3.90.850.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR005959 Fumarylacetoacetase
IPR011234 Fumarylacetoacetase-like_C
IPR036663 Fumarylacetoacetase_C_sf
IPR015377 Fumarylacetoacetase_N
IPR036462 Fumarylacetoacetase_N_sf

The PANTHER Classification System

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PANTHERi
PTHR43069 PTHR43069, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF01557 FAA_hydrolase, 1 hit
PF09298 FAA_hydrolase_N, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF56529 SSF56529, 1 hit
SSF63433 SSF63433, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR01266 fum_ac_acetase, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P16930-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSFIPVAEDS DFPIHNLPYG VFSTRGDPRP RIGVAIGDQI LDLSIIKHLF
60 70 80 90 100
TGPVLSKHQD VFNQPTLNSF MGLGQAAWKE ARVFLQNLLS VSQARLRDDT
110 120 130 140 150
ELRKCAFISQ ASATMHLPAT IGDYTDFYSS RQHATNVGIM FRDKENALMP
160 170 180 190 200
NWLHLPVGYH GRASSVVVSG TPIRRPMGQM KPDDSKPPVY GACKLLDMEL
210 220 230 240 250
EMAFFVGPGN RLGEPIPISK AHEHIFGMVL MNDWSARDIQ KWEYVPLGPF
260 270 280 290 300
LGKSFGTTVS PWVVPMDALM PFAVPNPKQD PRPLPYLCHD EPYTFDINLS
310 320 330 340 350
VNLKGEGMSQ AATICKSNFK YMYWTMLQQL THHSVNGCNL RPGDLLASGT
360 370 380 390 400
ISGPEPENFG SMLELSWKGT KPIDLGNGQT RKFLLDGDEV IITGYCQGDG
410
YRIGFGQCAG KVLPALLPS
Length:419
Mass (Da):46,374
Last modified:August 1, 1992 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i12EA8D8074C55BB2
GO
Isoform 2 (identifier: P16930-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-70: Missing.

Note: No experimental confirmation available.
Show »
Length:349
Mass (Da):38,614
Checksum:i76484AD16731BE21
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YLC7H0YLC7_HUMAN
Fumarylacetoacetase
FAH
161Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BNP8H3BNP8_HUMAN
Fumarylacetoacetase
FAH
60Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00520516N → I in TYRSN1; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs121965073EnsemblClinVar.1
Natural variantiVAR_06545435A → T in TYRSN1; atypical mild phenotype. 1 Publication1
Natural variantiVAR_00520662F → C in TYRSN1; loss of activity. 1 Publication1
Natural variantiVAR_00520764Q → H in TYRSN1. Corresponds to variant dbSNP:rs80338894EnsemblClinVar.1
Natural variantiVAR_005208134A → D in TYRSN1; loss of activity. 3 PublicationsCorresponds to variant dbSNP:rs121965074EnsemblClinVar.1
Natural variantiVAR_005209158G → D in TYRSN1. 1 Publication1
Natural variantiVAR_005210166V → G in TYRSN1. 1 PublicationCorresponds to variant dbSNP:rs778387055EnsemblClinVar.1
Natural variantiVAR_005211193C → R in TYRSN1; loss of activity. 2 Publications1
Natural variantiVAR_005212207G → D in TYRSN1. Corresponds to variant dbSNP:rs754196530Ensembl.1
Natural variantiVAR_005213233D → V in TYRSN1; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs80338897EnsemblClinVar.1
Natural variantiVAR_005214234W → G in TYRSN1; loss of activity. 2 Publications1
Natural variantiVAR_005215249P → T in TYRSN1. 1
Natural variantiVAR_005216261P → L in TYRSN1. 1 PublicationCorresponds to variant dbSNP:rs80338898EnsemblClinVar.1
Natural variantiVAR_065455279Q → R in TYRSN1; may affect splicing resulting in skipping of exon 8 alone or together with exon 9; lower activity as compared to wild type. 3 PublicationsCorresponds to variant dbSNP:rs121965078EnsemblClinVar.1
Natural variantiVAR_005217294T → P in TYRSN1. Corresponds to variant dbSNP:rs370634385Ensembl.1
Natural variantiVAR_005218337G → S in TYRSN1. 1 PublicationCorresponds to variant dbSNP:rs80338900EnsemblClinVar.1
Natural variantiVAR_005219341R → W Functional polymorphism; does not cause a clinically relevant phenotype; results in lower enzyme activity. 3 PublicationsCorresponds to variant dbSNP:rs11555096EnsemblClinVar.1
Natural variantiVAR_005220342P → L in TYRSN1; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs779040832EnsemblClinVar.1
Natural variantiVAR_005221366Missing in TYRSN1. 1 Publication1
Natural variantiVAR_005222369G → V in TYRSN1. 1 Publication1
Natural variantiVAR_005223381R → G in TYRSN1; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121965077EnsemblClinVar.1
Natural variantiVAR_005224405F → H in TYRSN1; requires 2 nucleotide substitutions. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0554911 – 70Missing in isoform 2. 1 PublicationAdd BLAST70

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M55150 mRNA Translation: AAA52422.1
BT007160 mRNA Translation: AAP35824.1
AK313951 mRNA Translation: BAG36668.1
BX537608 mRNA Translation: CAD97795.1
AC087761 Genomic DNA No translation available.
CH471136 Genomic DNA Translation: EAW99120.1
CH471136 Genomic DNA Translation: EAW99121.1
BC002527 mRNA Translation: AAH02527.1
X51728 mRNA Translation: CAA36016.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS10314.1 [P16930-1]

Protein sequence database of the Protein Information Resource

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PIRi
A37926

NCBI Reference Sequences

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RefSeqi
NP_000128.1, NM_000137.2 [P16930-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.73875

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000261755; ENSP00000261755; ENSG00000103876 [P16930-1]
ENST00000407106; ENSP00000385080; ENSG00000103876 [P16930-1]
ENST00000561421; ENSP00000453347; ENSG00000103876 [P16930-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
2184

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2184

UCSC genome browser

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UCSCi
uc002bfm.3 human [P16930-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M55150 mRNA Translation: AAA52422.1
BT007160 mRNA Translation: AAP35824.1
AK313951 mRNA Translation: BAG36668.1
BX537608 mRNA Translation: CAD97795.1
AC087761 Genomic DNA No translation available.
CH471136 Genomic DNA Translation: EAW99120.1
CH471136 Genomic DNA Translation: EAW99121.1
BC002527 mRNA Translation: AAH02527.1
X51728 mRNA Translation: CAA36016.1
CCDSiCCDS10314.1 [P16930-1]
PIRiA37926
RefSeqiNP_000128.1, NM_000137.2 [P16930-1]
UniGeneiHs.73875

3D structure databases

ProteinModelPortaliP16930
SMRiP16930
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108479, 11 interactors
IntActiP16930, 8 interactors
STRINGi9606.ENSP00000261755

Chemistry databases

DrugBankiDB01832 4-[Hydroxy-[Methyl-Phosphinoyl]]-3-Oxo-Butanoic Acid
DB01762 Acetoacetic Acid
DB01677 Fumarate

PTM databases

iPTMnetiP16930
PhosphoSitePlusiP16930
SwissPalmiP16930

Polymorphism and mutation databases

BioMutaiFAH
DMDMi119778

2D gel databases

OGPiP16930
REPRODUCTION-2DPAGEiIPI00031708

Proteomic databases

EPDiP16930
jPOSTiP16930
MaxQBiP16930
PaxDbiP16930
PeptideAtlasiP16930
PRIDEiP16930
ProteomicsDBi53401

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261755; ENSP00000261755; ENSG00000103876 [P16930-1]
ENST00000407106; ENSP00000385080; ENSG00000103876 [P16930-1]
ENST00000561421; ENSP00000453347; ENSG00000103876 [P16930-1]
GeneIDi2184
KEGGihsa:2184
UCSCiuc002bfm.3 human [P16930-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2184
DisGeNETi2184
EuPathDBiHostDB:ENSG00000103876.11

GeneCards: human genes, protein and diseases

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GeneCardsi
FAH
HGNCiHGNC:3579 FAH
HPAiHPA041370
HPA044093
MalaCardsiFAH
MIMi276700 phenotype
613871 gene
neXtProtiNX_P16930
OpenTargetsiENSG00000103876
Orphaneti882 Tyrosinemia type 1
PharmGKBiPA27977

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2843 Eukaryota
COG0179 LUCA
GeneTreeiENSGT00390000008646
HOGENOMiHOG000256845
HOVERGENiHBG001919
InParanoidiP16930
KOiK01555
OMAiPNWLHIP
OrthoDBi980065at2759
PhylomeDBiP16930
TreeFamiTF315211

Enzyme and pathway databases

UniPathwayi
UPA00139;UER00341

BioCyciMetaCyc:HS02536-MONOMER
ReactomeiR-HSA-71182 Phenylalanine and tyrosine catabolism

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
FAH human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Fumarylacetoacetate_hydrolase

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
2184

Protein Ontology

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PROi
PR:P16930

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000103876 Expressed in 200 organ(s), highest expression level in liver
ExpressionAtlasiP16930 baseline and differential
GenevisibleiP16930 HS

Family and domain databases

Gene3Di2.30.30.230, 1 hit
3.90.850.10, 1 hit
InterProiView protein in InterPro
IPR005959 Fumarylacetoacetase
IPR011234 Fumarylacetoacetase-like_C
IPR036663 Fumarylacetoacetase_C_sf
IPR015377 Fumarylacetoacetase_N
IPR036462 Fumarylacetoacetase_N_sf
PANTHERiPTHR43069 PTHR43069, 1 hit
PfamiView protein in Pfam
PF01557 FAA_hydrolase, 1 hit
PF09298 FAA_hydrolase_N, 1 hit
SUPFAMiSSF56529 SSF56529, 1 hit
SSF63433 SSF63433, 1 hit
TIGRFAMsiTIGR01266 fum_ac_acetase, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiFAAA_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P16930
Secondary accession number(s): B2R9X1, D3DW95, Q53XA7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1990
Last sequence update: August 1, 1992
Last modified: February 13, 2019
This is version 184 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
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